uniprot_acc	gene_symbol	position	wt_aa	mut_aa	label	source	review_status	cysteine_fraction	protein_name	mutation_id	n_terminal	cysteine_gained	cysteine_lost	ros_axis	import_axis	mutation_key
Q96CU9	FOXRED1	429	N	S	1	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	N430S	False	False	False	False	False	Q96CU9_429_S
Q9ULP9	TBC1D24	146	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	D147H	False	False	False	True	False	Q9ULP9_146_H
Q5T481	RBM20	637	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P638L	False	False	False	False	False	Q5T481_637_L
Q5T481	RBM20	633	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R634Q	False	False	False	False	False	Q5T481_633_Q
Q5T481	RBM20	635	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R636S	False	False	False	False	False	Q5T481_635_S
Q5T481	RBM20	635	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R636H	False	False	False	False	False	Q5T481_635_H
Q9NX18	SDHAF2	77	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	G78R	False	False	False	False	False	Q9NX18_77_R
O00584	RNASET2	183	C	R	1	ClinVar	criteria provided, single submitter	0.04296875	Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)	C184R	False	False	True	True	False	O00584_183_R
Q9BU61	NDUFAF3	76	G	R	1	ClinVar	no assertion criteria provided	0.021739130434782608	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	G77R	False	False	False	False	False	Q9BU61_76_R
Q9BU61	NDUFAF3	121	R	P	1	ClinVar	no assertion criteria provided	0.021739130434782608	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R122P	False	False	False	False	False	Q9BU61_121_P
Q9BU61	NDUFAF3	0	M	T	1	ClinVar	criteria provided, single submitter	0.021739130434782608	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1T	True	False	False	False	True	Q9BU61_0_T
A6NFY7	SDHAF1	56	G	R	1	ClinVar	criteria provided, single submitter	0.008695652173913044	Succinate dehydrogenase assembly factor 1, mitocho	G57R	False	False	False	False	False	A6NFY7_56_R
A6NFY7	SDHAF1	54	R	P	1	ClinVar	no assertion criteria provided	0.008695652173913044	Succinate dehydrogenase assembly factor 1, mitocho	R55P	False	False	False	False	False	A6NFY7_54_P
Q330K2	NDUFAF6	98	Q	R	1	ClinVar	no assertion criteria provided	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	Q99R	False	False	False	False	False	Q330K2_98_R
Q5TEU4	NDUFAF5	228	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	L229P	False	False	False	False	False	Q5TEU4_228_P
Q5TEU4	NDUFAF5	158	L	F	1	ClinVar	no assertion criteria provided	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	L159F	False	False	False	False	False	Q5TEU4_158_F
Q9BTV4	TMEM43	357	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	S358L	False	False	False	False	False	Q9BTV4_357_L
Q9H1K1	ISCU	49	G	E	1	ClinVar	criteria provided, single submitter	0.023952095808383235	Iron-sulfur cluster assembly enzyme ISCU (NifU-lik	G50E	True	False	False	False	True	Q9H1K1_49_E
Q9P032	NDUFAF4	64	L	P	1	ClinVar	no assertion criteria provided	0.005714285714285714	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	L65P	False	False	False	False	False	Q9P032_64_P
Q9Y2Z4	YARS2	51	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	F52L	False	False	False	False	False	Q9Y2Z4_51_L
Q6PI48	DARS2	262	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	R263Q	False	False	False	False	False	Q6PI48_262_Q
Q6PI48	DARS2	151	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	C152F	False	False	True	True	False	Q6PI48_151_F
Q6PI48	DARS2	44	S	G	1	ClinVar	no assertion criteria provided	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	S45G	True	False	False	False	True	Q6PI48_44_G
Q6PI48	DARS2	178	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	R179H	False	False	False	False	False	Q6PI48_178_H
O75648	TRMU	9	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023752969121140142	Mitochondrial tRNA-specific 2-thiouridylase 1 (EC 	A10S	True	False	False	False	True	O75648_9_S
Q96H96	COQ2	246	Y	C	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	Y247C	False	True	False	True	False	Q96H96_246_C
Q96H96	COQ2	146	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	R147H	False	False	False	False	False	Q96H96_146_H
Q96H96	COQ2	95	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	S96N	False	False	False	False	False	Q96H96_95_N
P08397	HMBS	166	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0110803324099723	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (H	R167Q	False	False	False	False	False	P08397_166_Q
P08397	HMBS	172	R	Q	1	ClinVar	criteria provided, single submitter	0.0110803324099723	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (H	R173Q	False	False	False	False	False	P08397_172_Q
P08397	HMBS	166	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0110803324099723	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (H	R167W	False	False	False	False	False	P08397_166_W
P08397	HMBS	80	L	P	1	ClinVar	no assertion criteria provided	0.0110803324099723	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (H	L81P	False	False	False	False	False	P08397_80_P
Q9P0J0	NDUFA13	4	K	N	1	ClinVar	no assertion criteria provided	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	K5N	True	False	False	False	True	Q9P0J0_4_N
Q9H936	SLC25A22	205	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02476780185758514	Mitochondrial glutamate carrier 1 (GC-1) (Glutamat	P206L	False	False	False	False	False	Q9H936_205_L
Q9H936	SLC25A22	235	G	W	1	ClinVar	no assertion criteria provided	0.02476780185758514	Mitochondrial glutamate carrier 1 (GC-1) (Glutamat	G236W	False	False	False	False	False	Q9H936_235_W
Q96AD5	PNPLA2	194	P	L	1	ClinVar	criteria provided, single submitter	0.023809523809523808	Patatin-like phospholipase domain-containing prote	P195L	False	False	False	False	False	Q96AD5_194_L
P11498	PC	609	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A610T	False	False	False	False	False	P11498_609_T
P11498	PC	742	M	I	1	ClinVar	no assertion criteria provided	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	M743I	False	False	False	False	False	P11498_742_I
P11498	PC	144	V	A	1	ClinVar	no assertion criteria provided	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	V145A	False	False	False	False	False	P11498_144_A
P11498	PC	450	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R451C	False	True	False	True	False	P11498_450_C
P11498	PC	582	R	L	1	ClinVar	no assertion criteria provided	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R583L	False	False	False	False	False	P11498_582_L
Q8IWN7	RP1L1	44	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017083333333333332	Retinitis pigmentosa 1-like 1 protein	R45W	True	False	False	False	True	Q8IWN7_44_W
O95140	MFN2	93	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R94Q	False	False	False	False	False	O95140_93_Q
O95140	MFN2	739	W	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	W740S	False	False	False	False	False	O95140_739_S
O95140	MFN2	75	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L76P	False	False	False	False	False	O95140_75_P
O95140	MFN2	279	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R280H	False	False	False	False	False	O95140_279_H
O95140	MFN2	250	P	A	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	P251A	False	False	False	False	False	O95140_250_A
O95140	MFN2	68	V	F	1	ClinVar	no assertion criteria provided	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V69F	False	False	False	False	False	O95140_68_F
O95140	MFN2	356	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	K357N	False	False	False	False	False	O95140_356_N
O95140	MFN2	164	H	D	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H165D	False	False	False	False	False	O95140_164_D
O95140	MFN2	93	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R94W	False	False	False	False	False	O95140_93_W
O95140	MFN2	363	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R364W	False	False	False	False	False	O95140_363_W
O95140	MFN2	205	T	I	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T206I	False	False	False	False	False	O95140_205_I
O95140	MFN2	706	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R707W	False	False	False	False	False	O95140_706_W
O95140	MFN2	103	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R104W	False	False	False	False	False	O95140_103_W
O95571	ETHE1	162	R	W	1	ClinVar	reviewed by expert panel	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	R163W	False	False	False	True	False	O95571_162_W
O95571	ETHE1	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	M1I	True	False	False	True	True	O95571_0_I
Q9Y606	PUS1	143	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	R144W	False	False	False	False	False	Q9Y606_143_W
P42704	LRPPRC	353	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A354V	False	False	False	False	False	P42704_353_V
O75072	FKTN	306	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	R307Q	False	False	False	False	False	O75072_306_Q
O75072	FKTN	357	Q	P	1	ClinVar	no assertion criteria provided	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	Q358P	False	False	False	False	False	O75072_357_P
O75072	FKTN	169	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	A170E	False	False	False	False	False	O75072_169_E
Q5T2R2	PDSS1	307	D	E	1	ClinVar	no assertion criteria provided	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	D308E	False	False	False	False	False	Q5T2R2_307_E
Q8NI60	COQ8A	212	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R213W	False	False	False	False	False	Q8NI60_212_W
Q8NI60	COQ8A	271	G	V	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	G272V	False	False	False	False	False	Q8NI60_271_V
Q8NI60	COQ8A	271	G	D	1	ClinVar	no assertion criteria provided	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	G272D	False	False	False	False	False	Q8NI60_271_D
Q8NI60	COQ8A	513	Y	C	1	ClinVar	no assertion criteria provided	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	Y514C	False	True	False	True	False	Q8NI60_513_C
Q9UI10	EIF2B4	356	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	R357Q	False	False	False	False	False	Q9UI10_356_Q
Q9UI10	EIF2B4	227	A	V	1	ClinVar	no assertion criteria provided	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	A228V	False	False	False	False	False	Q9UI10_227_V
Q9UI10	EIF2B4	464	C	R	1	ClinVar	no assertion criteria provided	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	C465R	False	False	True	True	False	Q9UI10_464_R
Q9UI10	EIF2B4	488	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	Y489H	False	False	False	False	False	Q9UI10_488_H
Q96RP9	GFM1	173	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	N174S	False	False	False	False	False	Q96RP9_173_S
Q96RP9	GFM1	495	M	R	1	ClinVar	no assertion criteria provided	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	M496R	False	False	False	False	False	Q96RP9_495_R
Q9NSU2	TREX1	113	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.025477707006369428	Three-prime repair exonuclease 1 (EC 3.1.11.2) (3'	R114H	False	False	False	False	False	Q9NSU2_113_H
Q9NSU2	TREX1	199	D	N	1	ClinVar	criteria provided, single submitter	0.025477707006369428	Three-prime repair exonuclease 1 (EC 3.1.11.2) (3'	D200N	False	False	False	False	False	Q9NSU2_199_N
Q9NSU2	TREX1	17	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.025477707006369428	Three-prime repair exonuclease 1 (EC 3.1.11.2) (3'	D18N	True	False	False	False	True	Q9NSU2_17_N
Q9H9S5	FKRP	275	L	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01616161616161616	Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) 	L276I	False	False	False	False	False	Q9H9S5_275_I
Q9H6K4	OPA3	92	G	S	1	ClinVar	no assertion criteria provided	0.01675977653631285	Optic atrophy 3 protein	G93S	False	False	False	False	False	Q9H6K4_92_S
Q9H6K4	OPA3	104	Q	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01675977653631285	Optic atrophy 3 protein	Q105E	False	False	False	False	False	Q9H6K4_104_E
Q9H1R3	MYLK2	94	A	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	A95E	False	False	False	False	False	Q9H1R3_94_E
P49770	EIF2B2	212	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	E213G	False	False	False	False	False	P49770_212_G
P49770	EIF2B2	315	V	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	V316D	False	False	False	False	False	P49770_315_D
P49770	EIF2B2	170	S	F	1	ClinVar	criteria provided, single submitter	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	S171F	False	False	False	False	False	P49770_170_F
Q9NR50	EIF2B3	224	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	R225Q	False	False	False	False	False	Q9NR50_224_Q
Q9NR50	EIF2B3	86	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	A87V	False	False	False	False	False	Q9NR50_86_V
Q9NR50	EIF2B3	345	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	I346T	False	False	False	False	False	Q9NR50_345_T
Q9NZV5	SELENON	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013559322033898305	Selenoprotein N (SelN)	M1V	True	False	False	False	True	Q9NZV5_0_V
Q96RR1	TWNK	474	A	P	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A475P	False	False	False	False	False	Q96RR1_474_P
Q96RR1	TWNK	358	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A359T	False	False	False	False	False	Q96RR1_358_T
Q96RR1	TWNK	314	W	L	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	W315L	False	False	False	False	False	Q96RR1_314_L
Q96RR1	TWNK	353	R	P	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R354P	False	False	False	False	False	Q96RR1_353_P
Q96RR1	TWNK	380	L	P	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	L381P	False	False	False	False	False	Q96RR1_380_P
Q96RR1	TWNK	333	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R334Q	False	False	False	False	False	Q96RR1_333_Q
Q96RR1	TWNK	368	S	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	S369Y	False	False	False	False	False	Q96RR1_368_Y
Q96RR1	TWNK	318	K	E	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	K319E	False	False	False	False	False	Q96RR1_318_E
Q96RR1	TWNK	456	T	I	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	T457I	False	False	False	False	False	Q96RR1_456_I
Q96RR1	TWNK	507	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	Y508C	False	True	False	True	False	Q96RR1_507_C
Q96RR1	TWNK	373	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R374W	False	False	False	False	False	Q96RR1_373_W
Q96RR1	TWNK	317	A	T	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A318T	False	False	False	False	False	Q96RR1_317_T
Q15049	MLC1	92	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	S93L	False	False	False	False	False	Q15049_92_L
Q15049	MLC1	140	N	K	1	ClinVar	no assertion criteria provided	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	N141K	False	False	False	False	False	Q15049_140_K
Q15049	MLC1	140	N	S	1	ClinVar	no assertion criteria provided	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	N141S	False	False	False	False	False	Q15049_140_S
Q15049	MLC1	91	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	P92S	False	False	False	False	False	Q15049_91_S
Q15049	MLC1	58	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G59E	False	False	False	False	False	Q15049_58_E
Q9BT22	ALG1	257	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03017241379310345	Chitobiosyldiphosphodolichol beta-mannosyltransfer	S258L	False	False	False	True	False	Q9BT22_257_L
Q96T60	PNKP	325	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	E326K	False	False	False	False	False	Q96T60_325_K
Q9BQ52	ELAC2	216	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	S217L	False	False	False	False	False	Q9BQ52_216_L
Q9BQ52	ELAC2	540	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	A541T	False	False	False	False	False	Q9BQ52_540_T
Q9BQ52	ELAC2	547	H	A	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	H548A	False	False	False	False	False	Q9BQ52_547_A
Q9BQ52	ELAC2	621	E	V	0	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	E622V	False	False	False	False	False	Q9BQ52_621_V
O60313	OPA1	636	Y	C	1	ClinVar	no assertion criteria provided	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	Y637C	False	True	False	True	False	O60313_636_C
Q9NZC2	TREM2	125	V	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	V126G	False	False	False	False	False	Q9NZC2_125_G
Q9UHN1	POLG2	450	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	G451E	False	False	False	False	False	Q9UHN1_450_E
P43897	TSFM	311	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	R312W	False	False	False	False	False	P43897_311_W
Q7LG56	RRM2B	193	E	K	1	ClinVar	no assertion criteria provided	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	E194K	False	False	False	False	False	Q7LG56_193_K
Q7LG56	RRM2B	235	C	F	1	ClinVar	no assertion criteria provided	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	C236F	False	False	True	True	False	Q7LG56_235_F
Q7LG56	RRM2B	120	R	H	1	ClinVar	no assertion criteria provided	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	R121H	False	False	False	False	False	Q7LG56_120_H
Q9Y4W6	AFG3L2	690	E	K	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	E691K	False	False	False	False	False	Q9Y4W6_690_K
Q9Y4W6	AFG3L2	673	S	L	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	S674L	False	False	False	False	False	Q9Y4W6_673_L
Q9Y4W6	AFG3L2	693	A	E	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	A694E	False	False	False	False	False	Q9Y4W6_693_E
Q9Y4W6	AFG3L2	701	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R702Q	False	False	False	False	False	Q9Y4W6_701_Q
Q9Y4W6	AFG3L2	431	N	T	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	N432T	False	False	False	False	False	Q9Y4W6_431_T
O43819	SCO2	224	S	F	1	ClinVar	no assertion criteria provided	0.011278195488721804	Protein SCO2 homolog, mitochondrial	S225F	False	False	False	False	False	O43819_224_F
O43819	SCO2	139	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011278195488721804	Protein SCO2 homolog, mitochondrial	E140K	False	False	False	False	False	O43819_139_K
O43819	SCO2	132	C	Y	1	ClinVar	no assertion criteria provided	0.011278195488721804	Protein SCO2 homolog, mitochondrial	C133Y	False	False	True	True	False	O43819_132_Y
O43914	TYROBP	0	M	T	1	ClinVar	no assertion criteria provided	0.02654867256637168	TYRO protein tyrosine kinase-binding protein (DNAX	M1T	True	False	False	False	True	O43914_0_T
Q9UBF9	MYOT	56	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	T57I	False	False	False	False	False	Q9UBF9_56_I
Q9UBF9	MYOT	54	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	S55F	False	False	False	False	False	Q9UBF9_54_F
Q9UBF9	MYOT	59	S	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	S60C	False	True	False	True	False	Q9UBF9_59_C
Q9UBF9	MYOT	59	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	S60F	False	False	False	False	False	Q9UBF9_59_F
Q9UBF9	MYOT	94	S	I	1	ClinVar	no assertion criteria provided	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	S95I	False	False	False	False	False	Q9UBF9_94_I
Q9UBF9	MYOT	38	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	S39F	True	False	False	False	True	Q9UBF9_38_F
Q9UNE0	EDAR	88	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.049107142857142856	Tumor necrosis factor receptor superfamily member 	R89H	False	False	False	True	False	Q9UNE0_88_H
P35499	SCN4A	1591	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	M1592V	False	False	False	False	False	P35499_1591_V
P35499	SCN4A	1305	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	G1306V	False	False	False	False	False	P35499_1305_V
P35499	SCN4A	1312	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	T1313M	False	False	False	False	False	P35499_1312_M
P35499	SCN4A	674	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	R675Q	False	False	False	False	False	P35499_674_Q
P35499	SCN4A	1305	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	G1306E	False	False	False	False	False	P35499_1305_E
Q13144	EIF2B5	90	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	T91A	False	False	False	False	False	Q13144_90_A
Q13144	EIF2B5	627	W	R	1	ClinVar	no assertion criteria provided	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	W628R	False	False	False	False	False	Q13144_627_R
Q13144	EIF2B5	385	G	V	1	ClinVar	criteria provided, single submitter	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	G386V	False	False	False	False	False	Q13144_385_V
Q13144	EIF2B5	112	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R113H	False	False	False	False	False	Q13144_112_H
Q13144	EIF2B5	194	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R195H	False	False	False	False	False	Q13144_194_H
Q13144	EIF2B5	308	V	L	1	ClinVar	criteria provided, single submitter	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	V309L	False	False	False	False	False	Q13144_308_L
Q13144	EIF2B5	194	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R195C	False	True	False	True	False	Q13144_194_C
Q13144	EIF2B5	181	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	T182M	False	False	False	False	False	Q13144_181_M
Q13144	EIF2B5	314	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R315H	False	False	False	False	False	Q13144_314_H
Q13144	EIF2B5	55	F	C	1	ClinVar	no assertion criteria provided	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	F56C	False	True	False	True	False	Q13144_55_C
Q9P2R7	SUCLA2	117	G	R	1	ClinVar	no assertion criteria provided	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	G118R	False	False	False	False	False	Q9P2R7_117_R
Q9P2R7	SUCLA2	283	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	R284C	False	True	False	True	False	Q9P2R7_283_C
O95817	BAG3	208	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P209L	False	False	False	False	False	O95817_208_L
O00429	DNM1L	394	A	D	1	ClinVar	no assertion criteria provided	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	A395D	False	False	False	False	False	O00429_394_D
O75380	NDUFS6	114	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04838709677419355	NADH dehydrogenase [ubiquinone] iron-sulfur protei	C115Y	False	False	True	True	False	O75380_114_Y
O75489	NDUFS3	144	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007575757575757576	NADH dehydrogenase [ubiquinone] iron-sulfur protei	T145I	False	False	False	False	False	O75489_144_I
O75489	NDUFS3	198	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007575757575757576	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R199W	False	False	False	False	False	O75489_198_W
Q9Y223	GNE	265	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R266Q	False	False	False	False	False	Q9Y223_265_Q
Q9Y223	GNE	711	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	M712T	False	False	False	False	False	Q9Y223_711_T
Q9Y223	GNE	630	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	A631T	False	False	False	False	False	Q9Y223_630_T
Q9Y223	GNE	245	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R246Q	False	False	False	False	False	Q9Y223_245_Q
Q9Y223	GNE	571	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	V572L	False	False	False	False	False	Q9Y223_571_L
Q9Y223	GNE	302	C	V	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	C303V	False	False	True	True	False	Q9Y223_302_V
Q9Y223	GNE	630	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	A631V	False	False	False	False	False	Q9Y223_630_V
Q9Y223	GNE	170	M	V	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	M171V	False	False	False	False	False	Q9Y223_170_V
O75746	SLC25A12	589	Q	R	1	ClinVar	no assertion criteria provided	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	Q590R	False	False	False	False	False	O75746_589_R
Q9Y276	BCS1L	276	S	N	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	S277N	False	False	False	False	False	Q9Y276_276_N
Q9Y276	BCS1L	98	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	P99L	False	False	False	False	False	Q9Y276_98_L
Q9Y276	BCS1L	154	R	P	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R155P	False	False	False	False	False	Q9Y276_154_P
Q9Y276	BCS1L	77	S	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	S78G	False	False	False	False	False	Q9Y276_77_G
Q9Y276	BCS1L	44	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R45C	True	True	False	True	True	Q9Y276_44_C
Q9Y276	BCS1L	182	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R183H	False	False	False	False	False	Q9Y276_182_H
Q9Y276	BCS1L	183	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R184C	False	True	False	True	False	Q9Y276_183_C
Q9Y276	BCS1L	34	G	R	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	G35R	True	False	False	False	True	Q9Y276_34_R
Q9Y276	BCS1L	49	T	A	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	T50A	True	False	False	False	True	Q9Y276_49_A
Q9Y276	BCS1L	182	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R183C	False	True	False	True	False	Q9Y276_182_C
Q7KZN9	COX15	216	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014634146341463415	Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytoch	R217W	False	False	False	False	False	Q7KZN9_216_W
O75880	SCO1	173	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013289036544850499	Protein SCO1 homolog, mitochondrial	P174L	False	False	False	False	False	O75880_173_L
O75306	NDUFS2	228	P	Q	1	ClinVar	no assertion criteria provided	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	P229Q	False	False	False	False	False	O75306_228_Q
O75306	NDUFS2	412	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	S413P	False	False	False	False	False	O75306_412_P
P61764	STXBP1	543	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G544D	False	False	False	False	False	P61764_543_D
P61764	STXBP1	179	C	Y	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C180Y	False	False	True	True	False	P61764_179_Y
P61764	STXBP1	442	M	R	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M443R	False	False	False	False	False	P61764_442_R
P61764	STXBP1	83	V	D	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V84D	False	False	False	False	False	P61764_83_D
Q9UQ90	SPG7	691	S	T	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	S692T	False	False	False	False	False	Q9UQ90_691_T
Q9UQ90	SPG7	348	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	G349S	False	False	False	False	False	Q9UQ90_348_S
Q9UQ90	SPG7	582	W	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	W583C	False	True	False	True	False	Q9UQ90_582_C
Q9UGJ0	PRKAG2	301	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	R302Q	False	False	False	False	False	Q9UGJ0_301_Q
Q9UGJ0	PRKAG2	399	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	T400N	False	False	False	False	False	Q9UGJ0_399_N
Q9UGJ0	PRKAG2	487	N	I	1	ClinVar	no assertion criteria provided	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	N488I	False	False	False	False	False	Q9UGJ0_487_I
Q9UGJ0	PRKAG2	530	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	R531Q	False	False	False	False	False	Q9UGJ0_530_Q
Q9UGJ0	PRKAG2	529	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	H530R	False	False	False	False	False	Q9UGJ0_529_R
Q9UGJ0	PRKAG2	505	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	E506Q	False	False	False	False	False	Q9UGJ0_505_Q
O14521	SDHD	80	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	P81L	False	False	False	True	False	O14521_80_L
O14521	SDHD	91	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	D92Y	False	False	False	True	False	O14521_91_Y
O14521	SDHD	101	H	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	H102L	False	False	False	True	False	O14521_101_L
O14521	SDHD	113	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	Y114C	False	True	False	True	False	O14521_113_C
O14521	SDHD	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	M1I	True	False	False	True	True	O14521_0_I
O14521	SDHD	138	L	P	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L139P	False	False	False	True	False	O14521_138_P
O14521	SDHD	49	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	H50R	True	False	False	True	True	O14521_49_R
O14521	SDHD	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	M1V	True	False	False	True	True	O14521_0_V
Q99574	SERPINI1	48	S	P	1	ClinVar	criteria provided, single submitter	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	S49P	True	False	False	False	True	Q99574_48_P
Q99574	SERPINI1	51	S	R	1	ClinVar	no assertion criteria provided	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	S52R	False	False	False	False	False	Q99574_51_R
Q99574	SERPINI1	337	H	R	1	ClinVar	no assertion criteria provided	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	H338R	False	False	False	False	False	Q99574_337_R
Q99574	SERPINI1	391	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	G392E	False	False	False	False	False	Q99574_391_E
Q99574	SERPINI1	391	G	R	1	ClinVar	criteria provided, single submitter	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	G392R	False	False	False	False	False	Q99574_391_R
Q99643	SDHC	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	M1I	True	False	False	False	True	Q99643_0_I
P50570	DNM2	368	R	Q	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R369Q	False	False	False	False	False	P50570_368_Q
P50570	DNM2	368	R	W	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R369W	False	False	False	False	False	P50570_368_W
P50570	DNM2	464	R	W	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R465W	False	False	False	False	False	P50570_464_W
P50570	DNM2	367	E	K	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	E368K	False	False	False	False	False	P50570_367_K
P50570	DNM2	618	S	L	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	S619L	False	False	False	False	False	P50570_618_L
P50570	DNM2	618	S	W	1	ClinVar	criteria provided, single submitter	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	S619W	False	False	False	False	False	P50570_618_W
Q13049	TRIM32	486	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.042879019908116385	E3 ubiquitin-protein ligase TRIM32 (EC 2.3.2.27) (	D487N	False	False	False	True	False	Q13049_486_N
O43526	KCNQ2	305	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A306T	False	False	False	False	False	O43526_305_T
O43526	KCNQ2	213	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R214W	False	False	False	False	False	O43526_213_W
O43526	KCNQ2	206	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R207W	False	False	False	False	False	O43526_206_W
O43526	KCNQ2	553	K	N	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K554N	False	False	False	False	False	O43526_553_N
O43526	KCNQ2	246	S	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S247W	False	False	False	False	False	O43526_246_W
O43526	KCNQ2	206	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R207Q	False	False	False	False	False	O43526_206_Q
Q92743	HTRA1	251	A	T	1	ClinVar	criteria provided, single submitter	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	A252T	False	False	False	True	False	Q92743_251_T
O00217	NDUFS8	78	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	P79L	False	False	False	True	False	O00217_78_L
O00217	NDUFS8	84	P	L	1	ClinVar	no assertion criteria provided	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	P85L	False	False	False	True	False	O00217_84_L
Q12887	COX10	203	N	K	1	ClinVar	no assertion criteria provided	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	N204K	False	False	False	False	False	Q12887_203_K
Q12887	COX10	195	T	K	1	ClinVar	no assertion criteria provided	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	T196K	False	False	False	False	False	Q12887_195_K
Q12887	COX10	224	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	P225L	False	False	False	False	False	Q12887_224_L
Q12887	COX10	335	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	D336V	False	False	False	False	False	Q12887_335_V
Q12887	COX10	335	D	G	1	ClinVar	no assertion criteria provided	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	D336G	False	False	False	False	False	Q12887_335_G
Q12887	COX10	0	M	T	1	ClinVar	no assertion criteria provided	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	M1T	True	False	False	False	True	Q12887_0_T
O75251	NDUFS7	121	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	V122M	False	False	False	False	False	O75251_121_M
O75251	NDUFS7	144	R	H	1	ClinVar	no assertion criteria provided	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R145H	False	False	False	False	False	O75251_144_H
P78363	ABCA4	1037	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01891772987241531	Retinal-specific phospholipid-transporting ATPase 	A1038V	False	False	False	False	False	P78363_1037_V
Q13702	RAPSN	87	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.050970873786407765	43 kDa receptor-associated protein of the synapse 	N88K	False	False	False	True	False	Q13702_87_K
Q13702	RAPSN	163	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.050970873786407765	43 kDa receptor-associated protein of the synapse 	R164C	False	True	False	True	False	Q13702_163_C
Q16854	DGUOK	141	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	R142K	False	False	False	False	False	Q16854_141_K
Q16854	DGUOK	226	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	E227K	False	False	False	False	False	Q16854_226_K
Q16854	DGUOK	254	D	Y	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	D255Y	False	False	False	False	False	Q16854_254_Y
Q9Y281	CFL2	34	A	T	1	ClinVar	no assertion criteria provided	0.012048192771084338	Cofilin-2 (Cofilin, muscle isoform)	A35T	True	False	False	False	True	Q9Y281_34_T
O60706	ABCC9	1512	A	T	1	ClinVar	no assertion criteria provided	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	A1513T	False	False	False	False	False	O60706_1512_T
P56539	CAV3	55	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.059602649006622516	Caveolin-3 (M-caveolin)	G56S	False	False	False	True	False	P56539_55_S
P56539	CAV3	45	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.059602649006622516	Caveolin-3 (M-caveolin)	A46T	True	False	False	True	True	P56539_45_T
P56539	CAV3;SSUH2	26	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.059602649006622516	Caveolin-3 (M-caveolin)	R27Q	True	False	False	True	True	P56539_26_Q
P56539	CAV3	32	N	K	1	ClinVar	criteria provided, single submitter	0.059602649006622516	Caveolin-3 (M-caveolin)	N33K	True	False	False	True	True	P56539_32_K
O00499	BIN1	34	K	N	1	ClinVar	no assertion criteria provided	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	K35N	True	False	False	False	True	O00499_34_N
O00499	BIN1	150	D	N	1	ClinVar	no assertion criteria provided	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	D151N	False	False	False	False	False	O00499_150_N
P49792	RANBP2	584	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	T585M	False	False	False	False	False	P49792_584_M
P55072	VCP	154	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R155H	False	False	False	False	False	P55072_154_H
P55072	VCP	154	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R155C	False	True	False	True	False	P55072_154_C
P55072	VCP	231	A	E	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	A232E	False	False	False	False	False	P55072_231_E
P55072	VCP	94	R	G	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R95G	False	False	False	False	False	P55072_94_G
P55072	VCP	190	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R191Q	False	False	False	False	False	P55072_190_Q
P55072	VCP	158	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R159H	False	False	False	False	False	P55072_158_H
O00555	CACNA1A	191	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R192Q	False	False	False	False	False	O00555_191_Q
O00555	CACNA1A	664	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T665M	False	False	False	False	False	O00555_664_M
O00555	CACNA1A	1808	I	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1809L	False	False	False	False	False	O00555_1808_L
O00555	CACNA1A	1659	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1660H	False	False	False	False	False	O00555_1659_H
O00555	CACNA1A	292	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G293R	False	False	False	False	False	O00555_292_R
O00555	CACNA1A	1382	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y1383C	False	True	False	True	False	O00555_1382_C
O00555	CACNA1A	217	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S218L	False	False	False	False	False	O00555_217_L
O00555	CACNA1A	581	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R582Q	False	False	False	False	False	O00555_581_Q
O00555	CACNA1A	1707	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1708T	False	False	False	False	False	O00555_1707_T
O00555	CACNA1A	1344	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1345Q	False	False	False	False	False	O00555_1344_Q
Q9UM54	MYO6	245	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01854714064914992	Unconventional myosin-VI (Unconventional myosin-6)	H246R	False	False	False	False	False	Q9UM54_245_R
Q14896	MYBPC3	541	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	E542Q	False	False	False	False	False	Q14896_541_Q
Q14896	MYBPC3	58	T	A	1	ClinVar	no assertion criteria provided	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	T59A	False	False	False	False	False	Q14896_58_A
Q14896	MYBPC3	819	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R820Q	False	False	False	False	False	Q14896_819_Q
P40939	HADHA	509	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	E510Q	False	False	False	False	False	P40939_509_Q
P40939	HADHA	341	L	P	1	ClinVar	no assertion criteria provided	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	L342P	False	False	False	False	False	P40939_341_P
P40939	HADHA	304	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	I305N	False	False	False	False	False	P40939_304_N
P31040	SDHA	553	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	R554W	False	False	False	False	False	P31040_553_W
P31040	SDHA	523	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	A524V	False	False	False	False	False	P31040_523_V
P31040	SDHA	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	M1L	True	False	False	False	True	P31040_0_L
P31040	SDHA	554	G	E	1	ClinVar	criteria provided, single submitter	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	G555E	False	False	False	False	False	P31040_554_E
P50461	CSRP3	57	C	G	1	ClinVar	criteria provided, single submitter	0.08247422680412371	Cysteine and glycine-rich protein 3 (Cardiac LIM p	C58G	False	False	True	True	False	P50461_57_G
P49810	PSEN2	129	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020089285714285716	Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E	S130L	False	False	False	False	False	P49810_129_L
P23786	CPT2	630	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	R631C	False	True	False	True	False	P23786_630_C
P23786	CPT2	112	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	S113L	False	False	False	False	False	P23786_112_L
P23786	CPT2	49	P	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	P50H	True	False	False	False	True	P23786_49_H
P23786	CPT2	173	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	E174K	False	False	False	False	False	P23786_173_K
P23786	CPT2	382	F	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	F383Y	False	False	False	False	False	P23786_382_Y
P23786	CPT2	502	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	R503C	False	True	False	True	False	P23786_502_C
P23786	CPT2	226	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	P227L	False	False	False	False	False	P23786_226_L
P23786	CPT2	119	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	Y120C	False	True	False	True	False	P23786_119_C
P19404	NDUFV2	28	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020080321285140562	NADH dehydrogenase [ubiquinone] flavoprotein 2, mi	V29A	True	False	False	False	True	P19404_28_A
Q00325	SLC25A3	71	G	E	1	ClinVar	no assertion criteria provided	0.022099447513812154	Solute carrier family 25 member 3 (Phosphate carri	G72E	False	False	False	False	False	Q00325_71_E
Q9UM47	NOTCH3	70	W	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	W71C	False	True	False	True	False	Q9UM47_70_C
Q9UM47	NOTCH3	168	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R169C	False	True	False	True	False	Q9UM47_168_C
Q9UM47	NOTCH3	181	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R182C	False	True	False	True	False	Q9UM47_181_C
Q9UM47	NOTCH3	62	A	T	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A63T	False	False	False	True	False	Q9UM47_62_T
Q9UM47	NOTCH3	454	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C455R	False	False	True	True	False	Q9UM47_454_R
Q9UM47	NOTCH3	331	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R332C	False	True	False	True	False	Q9UM47_331_C
Q9UM47	NOTCH3	132	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R133C	False	True	False	True	False	Q9UM47_132_C
Q9UM47	NOTCH3	1019	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A1020P	False	False	False	True	False	Q9UM47_1019_P
Q9UM47	NOTCH3	427	C	S	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C428S	False	False	True	True	False	Q9UM47_427_S
P54278	PMS2	45	S	I	1	ClinVar	reviewed by expert panel	0.024361948955916472	Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DN	S46I	True	False	False	False	True	P54278_45_I
Q07699	SCN1B	120	C	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03211009174311927	Sodium channel regulatory subunit beta-1	C121W	False	False	True	True	False	Q07699_120_W
Q16281	CNGA3	276	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010086455331412104	Cyclic nucleotide-gated channel alpha-3 (CNG chann	R277C	False	True	False	True	False	Q16281_276_C
P03915	MT-ND5	123	F	L	1	ClinVar	reviewed by expert panel	0.009950248756218905	NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2	F124L	False	False	False	False	False	P03915_123_L
P13473	LAMP2	309	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024390243902439025	Lysosome-associated membrane glycoprotein 2 (LAMP-	V310I	False	False	False	False	False	P13473_309_I
P08559	PDHA1	377	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R378H	False	False	False	True	False	P08559_377_H
P08559	PDHA1	262	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R263G	False	False	False	True	False	P08559_262_G
P08559	PDHA1	301	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R302C	False	True	False	True	False	P08559_301_C
P08559	PDHA1	257	D	A	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D258A	False	False	False	True	False	P08559_257_A
P08559	PDHA1	204	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	F205L	False	False	False	True	False	P08559_204_L
P08559	PDHA1	242	Y	N	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y243N	False	False	False	True	False	P08559_242_N
P08559	PDHA1	314	D	N	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D315N	False	False	False	True	False	P08559_314_N
P08559	PDHA1	281	M	L	0	ClinVar	reviewed by expert panel	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M282L	False	False	False	True	False	P08559_281_L
P08559	PDHA1	9	R	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R10P	True	False	False	True	True	P08559_9_P
P08559	PDHA1	287	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R288H	False	False	False	True	False	P08559_287_H
P08559	PDHA1	215	L	F	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L216F	False	False	False	True	False	P08559_215_F
Q8TAB3	PCDH19	440	V	E	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	V441E	False	False	False	False	False	Q8TAB3_440_E
Q8TAB3	PCDH19	556	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N557K	False	False	False	False	False	Q8TAB3_556_K
Q13496	MTM1	188	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	N189S	False	False	False	False	False	Q13496_188_S
Q13496	MTM1	396	Y	C	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	Y397C	False	True	False	True	False	Q13496_396_C
Q13496	MTM1	68	R	C	1	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R69C	False	True	False	True	False	Q13496_68_C
Q13496	MTM1	240	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R241C	False	True	False	True	False	Q13496_240_C
Q13496	MTM1	156	E	K	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	E157K	False	False	False	False	False	Q13496_156_K
Q96QS3	ARX	352	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	P353L	False	False	False	False	False	Q96QS3_352_L
Q96QS3	ARX	331	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R332H	False	False	False	False	False	Q96QS3_331_H
P11532	DMD	2909	E	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	E2910V	False	False	False	False	False	P11532_2909_V
P11532	DMD	2911	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	N2912D	False	False	False	False	False	P11532_2911_D
P11532	DMD	2920	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	H2921R	False	False	False	False	False	P11532_2920_R
O60220	TIMM8A	65	C	W	1	ClinVar	criteria provided, single submitter	0.041237113402061855	Mitochondrial import inner membrane translocase su	C66W	False	False	True	True	False	O60220_65_W
Q99714	HSD17B10	129	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	R130C	False	True	False	True	False	Q99714_129_C
Q99714	HSD17B10	246	N	S	1	ClinVar	no assertion criteria provided	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	N247S	False	False	False	False	False	Q99714_246_S
O76039	CDKL5	151	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	C152F	False	False	True	True	False	O76039_151_F
O76039	CDKL5	174	R	S	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R175S	False	False	False	False	False	O76039_174_S
O76039	CDKL5	39	A	V	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A40V	True	False	False	False	True	O76039_39_V
O76039	CDKL5	71	I	T	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	I72T	False	False	False	False	False	O76039_71_T
Q13642	FHL1	279	V	M	1	ClinVar	no assertion criteria provided	0.09597523219814241	Four and a half LIM domains protein 1 (FHL-1) (Ske	V280M	False	False	False	True	False	Q13642_279_M
O15239	NDUFA1	7	G	R	1	ClinVar	no assertion criteria provided	0.014285714285714285	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	G8R	True	False	False	False	True	O15239_7_R
O15239	NDUFA1	36	R	S	1	ClinVar	no assertion criteria provided	0.014285714285714285	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R37S	True	False	False	False	True	O15239_36_S
P09622	DLD	71	K	E	1	ClinVar	no assertion criteria provided	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	K72E	False	False	False	False	False	P09622_71_E
P09622	DLD	487	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	P488L	False	False	False	False	False	P09622_487_L
P09622	DLD	228	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	G229C	False	True	False	True	False	P09622_228_C
P09622	DLD	494	R	G	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	R495G	False	False	False	False	False	P09622_494_G
P09622	DLD	392	I	T	1	ClinVar	no assertion criteria provided	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	I393T	False	False	False	False	False	P09622_392_T
P09622	DLD	374	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	E375K	False	False	False	False	False	P09622_374_K
P09622	DLD	360	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	M361V	False	False	False	False	False	P09622_360_V
P48728	AMT	41	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	H42R	True	False	False	False	True	P48728_41_R
P48728	AMT	275	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	D276H	False	False	False	False	False	P48728_275_H
P48728	AMT	319	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R320H	False	False	False	False	False	P48728_319_H
P23378	GLDC	563	S	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S564I	False	False	False	False	False	P23378_563_I
P23378	GLDC	514	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R515S	False	False	False	False	False	P23378_514_S
P23378	GLDC	760	G	R	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G761R	False	False	False	False	False	P23378_760_R
P23378	GLDC	801	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A802V	False	False	False	False	False	P23378_801_V
P23378	GLDC	0	M	T	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	M1T	True	False	False	False	True	P23378_0_T
P23378	GLDC	388	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A389V	False	False	False	False	False	P23378_388_V
P23378	GLDC	738	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R739H	False	False	False	False	False	P23378_738_H
P05166	PCCB	409	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R410W	False	False	False	False	False	P05166_409_W
P05166	PCCB	167	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	E168K	False	False	False	False	False	P05166_167_K
P05166	PCCB	427	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	T428I	False	False	False	False	False	P05166_427_I
P05166	PCCB	434	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	Y435C	False	True	False	True	False	P05166_434_C
P05165	PCCA	372	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	M373K	False	False	False	False	False	P05165_372_K
P45379	TNNT2	88	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	I89N	False	False	False	False	False	P45379_88_N
P45379	TNNT2	101	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R102Q	False	False	False	False	False	P45379_101_Q
P45379	TNNT2	119	F	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	F120I	False	False	False	False	False	P45379_119_I
P45379	TNNT2	150	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R151W	False	False	False	False	False	P45379_150_W
P45379	TNNT2	140	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R141W	False	False	False	False	False	P45379_140_W
P45379	TNNT2	214	R	L	1	ClinVar	no assertion criteria provided	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R215L	False	False	False	False	False	P45379_214_L
P19429	TNNI3	144	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R145G	False	False	False	False	False	P19429_144_G
P19429	TNNI3	205	K	Q	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	K206Q	False	False	False	False	False	P19429_205_Q
P19429	TNNI3	81	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	P82S	False	False	False	False	False	P19429_81_S
P19429	TNNI3	195	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	D196N	False	False	False	False	False	P19429_195_N
P19429	TNNI3	189	D	G	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	D190G	False	False	False	False	False	P19429_189_G
P19429	TNNI3	191	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R192H	False	False	False	False	False	P19429_191_H
P19429	TNNI3	177	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	K178E	False	False	False	False	False	P19429_177_E
P19429	TNNI3	144	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R145W	False	False	False	False	False	P19429_144_W
P19429	TNNI3	143	L	Q	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	L144Q	False	False	False	False	False	P19429_143_Q
P19429	TNNI3	35	K	Q	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	K36Q	True	False	False	False	True	P19429_35_Q
P19429	TNNI3	184	N	K	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	N185K	False	False	False	False	False	P19429_184_K
P19429	TNNI3	202	G	S	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	G203S	False	False	False	False	False	P19429_202_S
P19429	TNNI3	20	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R21C	True	True	False	True	True	P19429_20_C
P63316	TNNC1	158	G	D	1	ClinVar	criteria provided, single submitter	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	G159D	False	False	False	False	False	P63316_158_D
P63316	TNNC1	7	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	A8V	True	False	False	False	True	P63316_7_V
P06753	TPM3	8	M	R	1	ClinVar	no assertion criteria provided	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	M9R	True	False	False	False	True	P06753_8_R
P06753	TPM3	167	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R168H	False	False	False	False	False	P06753_167_H
P06753	TPM3	99	L	M	1	ClinVar	no assertion criteria provided	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	L100M	False	False	False	False	False	P06753_99_M
P06753	TPM3	167	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R168G	False	False	False	False	False	P06753_167_G
P06753	TPM3	167	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R168C	False	True	False	True	False	P06753_167_C
P09493	TPM1	179	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E180G	False	False	False	False	False	P09493_179_G
P09493	TPM1	174	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D175N	False	False	False	False	False	P09493_174_N
P09493	TPM1	94	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	V95A	False	False	False	False	False	P09493_94_A
P07951	TPM2	116	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	E117K	False	False	False	False	False	P07951_116_K
P07951	TPM2	40	E	K	1	ClinVar	criteria provided, single submitter	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	E41K	True	False	False	False	True	P07951_40_K
P07951	TPM2	201	N	K	1	ClinVar	no assertion criteria provided	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	N202K	False	False	False	False	False	P07951_201_K
P01137	TGFB1	9	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Transforming growth factor beta-1 proprotein [Clea	P10L	True	False	False	True	True	P01137_9_L
P01112	HRAS	11	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031746031746031744	GTPase HRas (EC 3.6.5.2) (H-Ras-1) (Ha-Ras) (Trans	G12V	True	False	False	True	True	P01112_11_V
P01112	HRAS	11	G	S	1	ClinVar	reviewed by expert panel	0.031746031746031744	GTPase HRas (EC 3.6.5.2) (H-Ras-1) (Ha-Ras) (Trans	G12S	True	False	False	True	True	P01112_11_S
P01112	HRAS	62	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031746031746031744	GTPase HRas (EC 3.6.5.2) (H-Ras-1) (Ha-Ras) (Trans	E63K	False	False	False	True	False	P01112_62_K
P01112	HRAS	21	Q	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031746031746031744	GTPase HRas (EC 3.6.5.2) (H-Ras-1) (Ha-Ras) (Trans	Q22K	True	False	False	True	True	P01112_21_K
Q8WZ42	TTN	739	R	L	1	ClinVar	no assertion criteria provided	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R740L	False	False	False	False	False	Q8WZ42_739_L
Q8WZ42	TTN	975	W	R	1	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	W976R	False	False	False	False	False	Q8WZ42_975_R
O00142	TK2	120	H	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	H121N	False	False	False	False	False	O00142_120_N
O00142	TK2	211	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	I212N	False	False	False	False	False	O00142_211_N
O00142	TK2	107	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	T108M	False	False	False	False	False	O00142_107_M
O00142	TK2	52	I	M	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	I53M	False	False	False	False	False	O00142_52_M
Q15526	SURF1	273	Y	D	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	Y274D	False	False	False	False	False	Q15526_273_D
Q15526	SURF1	123	G	E	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	G124E	False	False	False	False	False	Q15526_123_E
P21912	SDHB	196	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	P197R	False	False	False	True	False	P21912_196_R
P21912	SDHB	241	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R242H	False	False	False	True	False	P21912_241_H
P21912	SDHB	45	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R46G	True	False	False	True	True	P21912_45_G
P21912	SDHB	100	C	Y	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C101Y	False	False	True	True	False	P21912_100_Y
P21912	SDHB	131	H	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	H132P	False	False	False	True	False	P21912_131_P
P21912	SDHB	2	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	A3G	True	False	False	True	True	P21912_2_G
Q99250	SCN2A	1329	L	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1330F	False	False	False	False	False	Q99250_1329_F
Q99250	SCN2A	1562	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1563V	False	False	False	False	False	Q99250_1562_V
Q99250	SCN2A	891	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V892I	False	False	False	False	False	Q99250_891_I
Q99250	SCN2A	222	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R223Q	False	False	False	False	False	Q99250_222_Q
Q99250	SCN2A	1318	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1319Q	False	False	False	False	False	Q99250_1318_Q
P35498	SCN1A	1647	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1648H	False	False	False	False	False	P35498_1647_H
P35498	SCN1A	874	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T875M	False	False	False	False	False	P35498_874_M
P35498	SCN1A	187	D	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D188V	False	False	False	False	False	P35498_187_V
P35498	SCN1A	1655	I	M	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1656M	False	False	False	False	False	P35498_1655_M
P35498	SCN1A	985	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L986F	False	False	False	False	False	P35498_985_F
P35498	SCN1A	1269	K	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	K1270T	False	False	False	False	False	P35498_1269_T
P35498	SCN1A	1708	T	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1709I	False	False	False	False	False	P35498_1708_I
P35498	SCN1A	144	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M145T	False	False	False	False	False	P35498_144_T
P35498	SCN1A	1498	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1499L	False	False	False	False	False	P35498_1498_L
P13637	ATP1A3	922	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	D923N	False	False	False	False	False	P13637_922_N
P50993	ATP1A2	547	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	R548H	False	False	False	False	False	P50993_547_H
Q92736	RYR2	2245	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	S2246L	False	False	False	False	False	Q92736_2245_L
Q92736	RYR2	4496	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	R4497C	False	True	False	True	False	Q92736_4496_C
P21817	RYR1	613	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R614C	False	True	False	True	False	P21817_613_C
P21817	RYR1	2434	R	H	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2435H	False	False	False	False	False	P21817_2434_H
P21817	RYR1	162	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R163C	False	True	False	True	False	P21817_162_C
P21817	RYR1	2433	G	R	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G2434R	False	False	False	False	False	P21817_2433_R
P21817	RYR1	2457	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2458C	False	True	False	True	False	P21817_2457_C
P21817	RYR1	2162	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2163C	False	True	False	True	False	P21817_2162_C
P21817	RYR1	2162	R	H	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2163H	False	False	False	False	False	P21817_2162_H
P21817	RYR1	2167	V	M	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	V2168M	False	False	False	False	False	P21817_2167_M
P21817	RYR1	2205	T	M	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T2206M	False	False	False	False	False	P21817_2205_M
P21817	RYR1	3526	P	S	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	P3527S	False	False	False	False	False	P21817_3526_S
P21817	RYR1	4636	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T4637A	False	False	False	False	False	P21817_4636_A
P11177	PDHB	131	Y	C	1	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	Y132C	False	True	False	True	False	P11177_131_C
P11177	PDHB	343	P	S	1	ClinVar	no assertion criteria provided	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	P344S	False	False	False	False	False	P11177_343_S
Q06124	PTPN11	467	T	M	1	ClinVar	reviewed by expert panel	0.016863406408094434	Tyrosine-protein phosphatase non-receptor type 11 	T468M	False	False	False	False	False	Q06124_467_M
P02766	TTR	49	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013605442176870748	Transthyretin (ATTR) (Prealbumin) (TBPA)	V50M	True	False	False	False	True	P02766_49_M
P02766	TTR	79	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013605442176870748	Transthyretin (ATTR) (Prealbumin) (TBPA)	T80A	False	False	False	False	False	P02766_79_A
P02766	TTR	141	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013605442176870748	Transthyretin (ATTR) (Prealbumin) (TBPA)	V142I	False	False	False	False	False	P02766_141_I
P02766	TTR	138	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013605442176870748	Transthyretin (ATTR) (Prealbumin) (TBPA)	T139M	False	False	False	False	False	P02766_138_M
P02766	TTR	25	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013605442176870748	Transthyretin (ATTR) (Prealbumin) (TBPA)	G26S	True	False	False	False	True	P02766_25_S
P54098	POLG	954	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Y955C	False	True	False	True	False	P54098_954_C
P54098	POLG	303	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L304R	False	False	False	False	False	P54098_303_R
P54098	POLG	2	R	P	1	ClinVar	no assertion criteria provided	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R3P	True	False	False	False	True	P54098_2_P
P54098	POLG	626	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R627W	False	False	False	False	False	P54098_626_W
P54098	POLG	931	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	H932Y	False	False	False	False	False	P54098_931_Y
P54098	POLG	1050	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G1051R	False	False	False	False	False	P54098_1050_R
P54098	POLG	847	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G848S	False	False	False	False	False	P54098_847_S
P54098	POLG	863	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	N864S	False	False	False	False	False	P54098_863_S
P54098	POLG	747	W	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	W748S	False	False	False	False	False	P54098_747_S
P54098	POLG	956	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A957S	False	False	False	False	False	P54098_956_S
P54098	POLG	830	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Y831C	False	True	False	True	False	P54098_830_C
P54098	POLG	736	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G737R	False	False	False	False	False	P54098_736_R
P54098	POLG	510	S	N	1	ClinVar	no assertion criteria provided	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S511N	False	False	False	False	False	P54098_510_N
P54098	POLG	226	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R227W	False	False	False	False	False	P54098_226_W
P54098	POLG	1072	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	P1073L	False	False	False	False	False	P54098_1072_L
P26678	PLN	8	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.057692307692307696	Phospholamban (PLB)	R9C	True	True	False	True	True	P26678_8_C
P04049	RAF1	256	S	L	1	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	S257L	False	False	False	False	False	P04049_256_L
P04049	RAF1	260	P	S	1	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	P261S	False	False	False	False	False	P04049_260_S
P04049	RAF1	612	L	V	1	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	L613V	False	False	False	False	False	P04049_612_V
P49821	NDUFV1	422	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	T423M	False	False	False	False	False	P49821_422_M
P49821	NDUFV1	340	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	A341V	False	False	False	False	False	P49821_340_V
P49821	NDUFV1	213	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	E214K	False	False	False	False	False	P49821_213_K
P08590	MYL3	148	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015384615384615385	Myosin light chain 3 (Cardiac myosin light chain 1	M149V	False	False	False	False	False	P08590_148_V
P10916	MYL2	21	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	E22K	True	False	False	False	True	P10916_21_K
P10916	MYL2	57	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	R58Q	False	False	False	False	False	P10916_57_Q
P10916	MYL2	17	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	F18L	True	False	False	False	True	P10916_17_L
P12883	MYH7	402	R	Q	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R403Q	False	False	False	False	False	P12883_402_Q
P12883	MYH7	248	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R249Q	False	False	False	False	False	P12883_248_Q
P12883	MYH7	452	R	C	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R453C	False	True	False	True	False	P12883_452_C
P12883	MYH7	583	G	R	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G584R	False	False	False	False	False	P12883_583_R
P12883	MYH7	605	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V606M	False	False	False	False	False	P12883_605_M
P12883	MYH7	923	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E924K	False	False	False	False	False	P12883_923_K
P12883	MYH7	948	E	K	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E949K	False	False	False	False	False	P12883_948_K
P12883	MYH7	722	R	C	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R723C	False	True	False	True	False	P12883_722_C
P12883	MYH7	907	L	V	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L908V	False	False	False	False	False	P12883_907_V
P12883	MYH7	740	G	R	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G741R	False	False	False	False	False	P12883_740_R
P12883	MYH7	255	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G256E	False	False	False	False	False	P12883_255_E
P12883	MYH7	777	D	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D778G	False	False	False	False	False	P12883_777_G
P12883	MYH7	402	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R403L	False	False	False	False	False	P12883_402_L
P12883	MYH7	402	R	W	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R403W	False	False	False	False	False	P12883_402_W
P12883	MYH7	512	F	C	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F513C	False	True	False	True	False	P12883_512_C
P12883	MYH7	718	R	W	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R719W	False	False	False	False	False	P12883_718_W
P12883	MYH7	715	G	R	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G716R	False	False	False	False	False	P12883_715_R
P12883	MYH7	934	E	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E935K	False	False	False	False	False	P12883_934_K
P12883	MYH7	718	R	Q	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R719Q	False	False	False	False	False	P12883_718_Q
P12883	MYH7	531	S	P	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S532P	False	False	False	False	False	P12883_531_P
P12883	MYH7	763	F	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F764L	False	False	False	False	False	P12883_763_L
P12883	MYH7	1499	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1500P	False	False	False	False	False	P12883_1499_P
P12883	MYH7	1900	H	L	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	H1901L	False	False	False	False	False	P12883_1900_L
P12883	MYH7	1711	R	W	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1712W	False	False	False	False	False	P12883_1711_W
P12883	MYH7	482	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E483K	False	False	False	False	False	P12883_482_K
P12883	MYH7	869	R	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R870H	False	False	False	False	False	P12883_869_H
P12883	MYH7	440	T	M	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T441M	False	False	False	False	False	P12883_440_M
P12883	MYH7	1792	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1793P	False	False	False	False	False	P12883_1792_P
P12883	MYH7	496	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E497D	False	False	False	False	False	P12883_496_D
P12883	MYH7	905	D	G	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D906G	False	False	False	False	False	P12883_905_G
P12883	MYH7	452	R	S	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R453S	False	False	False	False	False	P12883_452_S
Q9UKX2	MYH2	705	E	K	1	ClinVar	no assertion criteria provided	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	E706K	False	False	False	False	False	Q9UKX2_705_K
P13533	MYH6	829	P	L	1	ClinVar	no assertion criteria provided	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	P830L	False	False	False	False	False	P13533_829_L
P28331	NDUFS1	251	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	D252G	False	False	False	False	False	P28331_251_G
P02545	LMNA	452	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R453W	False	False	False	False	False	P02545_452_W
P02545	LMNA	59	R	G	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R60G	False	False	False	False	False	P02545_59_G
P02545	LMNA	526	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R527P	False	False	False	False	False	P02545_526_P
P02545	LMNA	194	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	N195K	False	False	False	False	False	P02545_194_K
P02545	LMNA	202	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E203G	False	False	False	False	False	P02545_202_G
P02545	LMNA	376	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R377H	False	False	False	False	False	P02545_376_H
P02545	LMNA	160	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E161K	False	False	False	False	False	P02545_160_K
P02545	LMNA	56	A	P	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	A57P	False	False	False	False	False	P02545_56_P
P55084	HADHB	262	D	G	1	ClinVar	no assertion criteria provided	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	D263G	False	False	False	False	False	P55084_262_G
P55084	HADHB	60	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	R61H	False	False	False	False	False	P55084_60_H
P55084	HADHB	246	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	R247H	False	False	False	False	False	P55084_246_H
P55084	HADHB	443	R	K	1	ClinVar	no assertion criteria provided	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	R444K	False	False	False	False	False	P55084_443_K
P55084	HADHB	454	V	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	V455G	False	False	False	False	False	P55084_454_G
P11166	SLC2A1	125	R	L	1	ClinVar	no assertion criteria provided	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R126L	False	False	False	False	False	P11166_125_L
P11166	SLC2A1	90	G	D	1	ClinVar	no assertion criteria provided	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G91D	False	False	False	False	False	P11166_90_D
P11166	SLC2A1	125	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R126H	False	False	False	False	False	P11166_125_H
P11166	SLC2A1	313	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G314S	False	False	False	False	False	P11166_313_S
P11166	SLC2A1	274	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	A275T	False	False	False	False	False	P11166_274_T
P11166	SLC2A1	92	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R93W	False	False	False	False	False	P11166_92_W
P11166	SLC2A1	125	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R126C	False	True	False	True	False	P11166_125_C
P11166	SLC2A1	91	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R92W	False	False	False	False	False	P11166_91_W
P39210	MPV17	49	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	R50Q	True	False	False	False	True	P39210_49_Q
P39210	MPV17	165	N	K	1	ClinVar	no assertion criteria provided	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	N166K	False	False	False	False	False	P39210_165_K
P39210	MPV17	49	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	R50W	True	False	False	False	True	P39210_49_W
P19971	TYMP	288	E	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	E289A	False	False	False	False	False	P19971_288_A
P19971	TYMP	144	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G145R	False	False	False	False	False	P19971_144_R
P19971	TYMP	221	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	K222R	False	False	False	False	False	P19971_221_R
P19971	TYMP	152	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G153S	False	False	False	False	False	P19971_152_S
P19971	TYMP	43	R	Q	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	R44Q	True	False	False	False	True	P19971_43_Q
P19971	TYMP	207	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	V208M	False	False	False	False	False	P19971_207_M
P19971	TYMP	310	G	R	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G311R	False	False	False	False	False	P19971_310_R
P19971	TYMP	201	R	T	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	R202T	False	False	False	False	False	P19971_201_T
P19971	TYMP	284	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L285P	False	False	False	False	False	P19971_284_P
Q14126	DSG2	48	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	R49H	True	False	False	False	True	Q14126_48_H
Q14126	DSG2	45	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	R46Q	True	False	False	False	True	Q14126_45_Q
P17661	DES	359	A	P	1	ClinVar	no assertion criteria provided	0.002127659574468085	Desmin	A360P	False	False	False	False	False	P17661_359_P
P17661	DES	344	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	L345P	False	False	False	False	False	P17661_344_P
P17661	DES	405	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	R406W	False	False	False	False	False	P17661_405_W
P17661	DES	384	L	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	L385P	False	False	False	False	False	P17661_384_P
P17661	DES	388	Q	P	1	ClinVar	no assertion criteria provided	0.002127659574468085	Desmin	Q389P	False	False	False	False	False	P17661_388_P
P17661	DES	441	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	T442I	False	False	False	False	False	P17661_441_I
P17661	DES	349	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	R350P	False	False	False	False	False	P17661_349_P
P15924	DSP	286	N	K	1	ClinVar	no assertion criteria provided	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	N287K	False	False	False	False	False	P15924_286_K
P15924	DSP	2365	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R2366C	False	True	False	True	False	P15924_2365_C
P14854	COX6B1	19	R	H	1	ClinVar	criteria provided, single submitter	0.046511627906976744	Cytochrome c oxidase subunit 6B1 (Cytochrome c oxi	R20H	True	False	False	True	True	P14854_19_H
P02511	CRYAB	119	R	G	1	ClinVar	no assertion criteria provided	0.0	Alpha-crystallin B chain (Alpha(B)-crystallin) (He	R120G	False	False	False	False	False	P02511_119_G
P12111	COL6A3	1678	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G1679E	False	False	False	False	False	P12111_1678_E
P12111	COL6A3	1725	L	R	1	ClinVar	no assertion criteria provided	0.009442870632672332	Collagen alpha-3(VI) chain	L1726R	False	False	False	False	False	P12111_1725_R
P12110	COL6A2	270	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G271S	False	False	False	False	False	P12110_270_S
P12110	COL6A2	620	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	D621N	False	False	False	False	False	P12110_620_N
P12110	COL6A2	776	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	C777R	False	False	True	True	False	P12110_776_R
P12110	COL6A2	282	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G283R	False	False	False	False	False	P12110_282_R
P12109	COL6A1	525	G	V	1	ClinVar	no assertion criteria provided	0.019455252918287938	Collagen alpha-1(VI) chain	G526V	False	False	False	False	False	P12109_525_V
P12109	COL6A1	340	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G341D	False	False	False	False	False	P12109_340_D
P12109	COL6A1	120	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	K121R	False	False	False	False	False	P12109_120_R
P12109	COL6A1	283	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G284R	False	False	False	False	False	P12109_283_R
P12109	COL6A1	289	G	R	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G290R	False	False	False	False	False	P12109_289_R
P12109	COL6A1	280	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G281R	False	False	False	False	False	P12109_280_R
P35523	CLCN1	229	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	G230E	False	False	False	False	False	P35523_229_E
P35523	CLCN1	479	P	L	1	ClinVar	criteria provided, single submitter	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	P480L	False	False	False	False	False	P35523_479_L
P35523	CLCN1	551	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	Q552R	False	False	False	False	False	P35523_551_R
P35523	CLCN1	289	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	I290M	False	False	False	False	False	P35523_289_M
P35523	CLCN1	316	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	R317Q	False	False	False	False	False	P35523_316_Q
P35523	CLCN1	127	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	M128V	False	False	False	False	False	P35523_127_V
P10809	HSPD1	97	V	I	1	ClinVar	criteria provided, single submitter	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	V98I	False	False	False	False	False	P10809_97_I
P10809	HSPD1	28	D	G	1	ClinVar	criteria provided, single submitter	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	D29G	True	False	False	False	True	P10809_28_G
Q13698	CACNA1S	1238	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R1239H	False	False	False	False	False	Q13698_1238_H
Q13698	CACNA1S	527	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R528H	False	False	False	False	False	Q13698_527_H
O14983	ATP2A1	788	P	L	1	ClinVar	criteria provided, single submitter	0.023976023976023976	Sarcoplasmic/endoplasmic reticulum calcium ATPase 	P789L	False	False	False	False	False	O14983_788_L
P01009	SERPINA1	279	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007177033492822967	Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (	D280V	False	False	False	False	False	P01009_279_V
Q01484	ANK2	3739	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011119535001263583	Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non	L3740I	False	False	False	False	False	Q01484_3739_I
P49768	PSEN1	162	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010706638115631691	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [	H163R	False	False	False	False	False	P49768_162_R
P49768	PSEN1	425	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010706638115631691	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [	A426P	False	False	False	False	False	P49768_425_P
P49768	PSEN1	205	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010706638115631691	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [	G206A	False	False	False	False	False	P49768_205_A
P49768	PSEN1	430	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010706638115631691	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [	A431E	False	False	False	False	False	P49768_430_E
P12235	SLC25A4	113	A	P	1	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	A114P	False	False	False	False	False	P12235_113_P
P12235	SLC25A4	288	V	M	1	ClinVar	no assertion criteria provided	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	V289M	False	False	False	False	False	P12235_288_M
P12235	SLC25A4	97	L	P	1	ClinVar	no assertion criteria provided	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	L98P	False	False	False	False	False	P12235_97_P
P12235	SLC25A4	103	D	G	1	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	D104G	False	False	False	False	False	P12235_103_G
P12235	SLC25A4	122	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	A123D	False	False	False	False	False	P12235_122_D
P68133	ACTA1	95	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	L96P	False	False	False	False	False	P68133_95_P
P68133	ACTA1	116	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N117S	False	False	False	False	False	P68133_116_S
P68133	ACTA1	16	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G17R	True	False	False	False	True	P68133_16_R
P68133	ACTA1	164	V	L	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V165L	False	False	False	False	False	P68133_164_L
P68133	ACTA1	260	E	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E261V	False	False	False	False	False	P68133_260_V
P68133	ACTA1	358	I	L	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I359L	False	False	False	False	False	P68133_358_L
P68133	ACTA1	269	G	C	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G270C	False	True	False	True	False	P68133_269_C
P68133	ACTA1	137	I	M	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I138M	False	False	False	False	False	P68133_137_M
P68133	ACTA1	2	D	Y	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D3Y	True	False	False	False	True	P68133_2_Y
P68133	ACTA1	335	E	A	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E336A	False	False	False	False	False	P68133_335_A
P68133	ACTA1	293	D	V	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D294V	False	False	False	False	False	P68133_293_V
P68133	ACTA1	333	P	S	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P334S	False	False	False	False	False	P68133_333_S
P68133	ACTA1	164	V	M	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V165M	False	False	False	False	False	P68133_164_M
P68032	ACTC1	296	A	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	A297S	False	False	False	False	False	P68032_296_S
P68032	ACTC1	332	A	P	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	A333P	False	False	False	False	False	P68032_332_P
P68032	ACTC1	100	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	E101K	False	False	False	False	False	P68032_100_K
P02708	CHRNA1	172	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015317286652078774	Acetylcholine receptor subunit alpha	G173S	False	False	False	False	False	P02708_172_S
P53597	SUCLG1	84	G	A	1	ClinVar	no assertion criteria provided	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	G85A	False	False	False	False	False	P53597_84_A
P53597	SUCLG1	169	P	R	1	ClinVar	no assertion criteria provided	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	P170R	False	False	False	False	False	P53597_169_R
O76039	CDKL5	177	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R178P	False	False	False	False	False	O76039_177_P
P21912	SDHB	139	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	V140F	False	False	False	True	False	P21912_139_F
P02545	LMNA	58	L	R	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L59R	False	False	False	False	False	P02545_58_R
P35523	CLCN1	530	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	A531V	False	False	False	False	False	P35523_530_V
P35523	CLCN1	306	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	F307S	False	False	False	False	False	P35523_306_S
P35523	CLCN1	309	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	T310M	False	False	False	False	False	P35523_309_M
Q14353	GAMT;NDUFS7	208	T	M	0	ClinVar	reviewed by expert panel	0.01694915254237288	Guanidinoacetate N-methyltransferase (EC 2.1.1.2)	T209M	False	False	False	False	False	Q14353_208_M
P11498	PC	630	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R631Q	False	False	False	False	False	P11498_630_Q
P14923	JUP	696	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0174496644295302	Junction plakoglobin (Catenin gamma) (Desmoplakin 	M697L	False	False	False	False	False	P14923_696_L
P54098	POLG	545	R	C	0	ClinVar	reviewed by expert panel	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R546C	False	True	False	True	False	P54098_545_C
P54098	POLG	661	E	K	0	ClinVar	reviewed by expert panel	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	E662K	False	False	False	False	False	P54098_661_K
P54098	POLG	231	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R232H	False	False	False	False	False	P54098_231_H
O14521	SDHD	94	L	P	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L95P	False	False	False	True	False	O14521_94_P
Q9UJS0	SLC25A13	530	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	G531D	False	False	False	False	False	Q9UJS0_530_D
Q15049	MLC1	343	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	N344S	False	False	False	False	False	Q15049_343_S
Q15049	MLC1	170	C	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	C171F	False	False	True	True	False	Q15049_170_F
Q15049	MLC1	217	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	N218K	False	False	False	False	False	Q15049_217_K
Q6PI48	DARS2	337	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	G338E	False	False	False	False	False	Q6PI48_337_E
Q6PI48	DARS2	195	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	K196R	False	False	False	False	False	Q6PI48_195_R
O43526	KCNQ2	352	R	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R353G	False	False	False	False	False	O43526_352_G
O43526	KCNQ2	358	T	K	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T359K	False	False	False	False	False	O43526_358_K
O43526	KCNQ2	552	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R553Q	False	False	False	False	False	O43526_552_Q
O43526	KCNQ2	580	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R581Q	False	False	False	False	False	O43526_580_Q
O43526	KCNQ2	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M1V	True	False	False	False	True	O43526_0_V
O43526	KCNQ2	779	N	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	N780T	False	False	False	False	False	O43526_779_T
O43526	KCNQ2	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M1T	True	False	False	False	True	O43526_0_T
O43526	KCNQ2	121	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S122L	False	False	False	False	False	O43526_121_L
O43526	KCNQ2	195	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A196V	False	False	False	False	False	O43526_195_V
O43526	KCNQ2	207	M	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M208V	False	False	False	False	False	O43526_207_V
O43526	KCNQ2	211	D	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D212G	False	False	False	False	False	O43526_211_G
O43526	KCNQ2	212	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R213W	False	False	False	False	False	O43526_212_W
O43526	KCNQ2	227	H	Q	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	H228Q	False	False	False	False	False	O43526_227_Q
O43526	KCNQ2	242	L	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L243F	False	False	False	False	False	O43526_242_F
O43526	KCNQ2	249	V	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V250G	False	False	False	False	False	O43526_249_G
O43526	KCNQ2	332	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R333W	False	False	False	False	False	O43526_332_W
O43526	KCNQ2	332	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R333Q	False	False	False	False	False	O43526_332_Q
Q14524	SCN5A	557	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	H558R	False	False	False	False	False	Q14524_557_R
P21817	RYR1	2786	T	S	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T2787S	False	False	False	False	False	P21817_2786_S
Q14315	FLNC	250	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	M251T	False	False	False	False	False	Q14315_250_T
Q14315	FLNC	192	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A193T	False	False	False	False	False	Q14315_192_T
P12110	COL6A2	870	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	D871N	False	False	False	False	False	P12110_870_N
P15924	DSP	2365	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R2366H	False	False	False	False	False	P15924_2365_H
P02545	LMNA	540	R	G	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R541G	False	False	False	False	False	P02545_540_G
P07333	CSF1R	874	M	T	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	M875T	False	False	False	False	False	P07333_874_T
P07333	CSF1R	632	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	E633K	False	False	False	False	False	P07333_632_K
P07333	CSF1R	793	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	I794T	False	False	False	False	False	P07333_793_T
P07333	CSF1R	836	D	Y	1	ClinVar	no assertion criteria provided	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	D837Y	False	False	False	False	False	P07333_836_Y
P21817	RYR1	3980	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	H3981Y	False	False	False	False	False	P21817_3980_Y
P35498	SCN1A	1668	A	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1669E	False	False	False	False	False	P35498_1668_E
Q99250	SCN2A	1210	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E1211K	False	False	False	False	False	Q99250_1210_K
Q99250	SCN2A	1472	I	M	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1473M	False	False	False	False	False	Q99250_1472_M
Q99250	SCN2A	262	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A263V	False	False	False	False	False	Q99250_262_V
Q15526	SURF1	226	W	R	1	ClinVar	no assertion criteria provided	0.01	Surfeit locus protein 1	W227R	False	False	False	False	False	Q15526_226_R
Q96QS3	ARX	534	L	Q	1	ClinVar	no assertion criteria provided	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	L535Q	False	False	False	False	False	Q96QS3_534_Q
P23786	CPT2	351	F	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	F352C	False	True	False	True	False	P23786_351_C
Q9UQD0	SCN8A	1767	N	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1768D	False	False	False	False	False	Q9UQD0_1767_D
P31040	SDHA	588	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	R589W	False	False	False	False	False	P31040_588_W
Q16795	NDUFA9	320	R	P	1	ClinVar	no assertion criteria provided	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R321P	False	False	False	False	False	Q16795_320_P
O95299	NDUFA10	0	M	V	1	ClinVar	criteria provided, single submitter	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1V	True	False	False	False	True	O95299_0_V
O95299	NDUFA10	141	Q	R	1	ClinVar	no assertion criteria provided	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	Q142R	False	False	False	False	False	O95299_141_R
Q9Y4W6	AFG3L2	665	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	M666V	False	False	False	False	False	Q9Y4W6_665_V
Q9Y4W6	AFG3L2	665	M	R	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	M666R	False	False	False	False	False	Q9Y4W6_665_R
Q9Y4W6	AFG3L2	670	G	R	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G671R	False	False	False	False	False	Q9Y4W6_670_R
Q9Y4W6	AFG3L2	615	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	Y616C	False	True	False	True	False	Q9Y4W6_615_C
Q9BR39	JPH2	100	S	R	1	ClinVar	no assertion criteria provided	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	S101R	False	False	False	False	False	Q9BR39_100_R
Q9BR39	JPH2	164	S	F	1	ClinVar	no assertion criteria provided	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	S165F	False	False	False	False	False	Q9BR39_164_F
Q9BR39	JPH2	504	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	G505S	False	False	False	False	False	Q9BR39_504_S
Q9NPC6	MYOZ2	47	S	P	1	ClinVar	criteria provided, single submitter	0.0	Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)	S48P	True	False	False	False	True	Q9NPC6_47_P
Q9NPC6	MYOZ2	245	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)	I246M	False	False	False	False	False	Q9NPC6_245_M
P56381	ATP5F1E	11	Y	C	1	ClinVar	no assertion criteria provided	0.0196078431372549	ATP synthase F(1) complex subunit epsilon, mitocho	Y12C	True	True	False	True	True	P56381_11_C
O76024	WFS1	683	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	A684V	False	False	False	False	False	O76024_683_V
Q9H3S4	TPK1	49	N	H	1	ClinVar	no assertion criteria provided	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	N50H	True	False	False	False	True	Q9H3S4_49_H
Q96RP9	GFM1	249	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	R250W	False	False	False	False	False	Q96RP9_249_W
Q9Y375	NDUFAF1	206	T	P	1	ClinVar	no assertion criteria provided	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	T207P	False	False	False	False	False	Q9Y375_206_P
Q9UMS0	NFU1	207	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	G208C	False	True	False	True	False	Q9UMS0_207_C
O95571	ETHE1	184	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	L185R	False	False	False	True	False	O95571_184_R
O95140	MFN2	215	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	F216S	False	False	False	False	False	O95140_215_S
O95140	MFN2	361	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T362M	False	False	False	False	False	O95140_361_M
Q9H845	ACAD9	416	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R417C	False	True	False	True	False	Q9H845_416_C
Q9H845	ACAD9	43	F	I	1	ClinVar	no assertion criteria provided	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	F44I	True	False	False	False	True	Q9H845_43_I
Q9H845	ACAD9	265	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R266Q	False	False	False	False	False	Q9H845_265_Q
Q9H845	ACAD9	325	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A326P	False	False	False	False	False	Q9H845_325_P
Q9H845	ACAD9	531	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R532W	False	False	False	False	False	Q9H845_531_W
Q5T160	RARS2	11	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	Q12R	True	False	False	False	True	Q5T160_11_R
Q14CZ8	HEPACAM	195	S	Y	1	ClinVar	criteria provided, single submitter	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	S196Y	False	False	False	False	False	Q14CZ8_195_Y
Q14CZ8	HEPACAM	91	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	R92Q	False	False	False	False	False	Q14CZ8_91_Q
Q14CZ8	HEPACAM	210	D	N	1	ClinVar	no assertion criteria provided	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	D211N	False	False	False	False	False	Q14CZ8_210_N
Q14CZ8	HEPACAM	97	R	C	1	ClinVar	criteria provided, single submitter	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	R98C	False	True	False	True	False	Q14CZ8_97_C
Q14CZ8	HEPACAM	88	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	G89S	False	False	False	False	False	Q14CZ8_88_S
Q14CZ8	HEPACAM	88	G	D	1	ClinVar	criteria provided, single submitter	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	G89D	False	False	False	False	False	Q14CZ8_88_D
Q14CZ8	HEPACAM	91	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	R92W	False	False	False	False	False	Q14CZ8_91_W
Q5JTZ9	AARS2	591	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R592W	False	False	False	False	False	Q5JTZ9_591_W
Q5JTZ9	AARS2	154	L	R	1	ClinVar	no assertion criteria provided	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	L155R	False	False	False	False	False	Q5JTZ9_154_R
Q96KG7	MEGF10	773	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.12982456140350876	Multiple epidermal growth factor-like domains prot	C774R	False	False	True	True	False	Q96KG7_773_R
Q96KG7	MEGF10	325	C	R	1	ClinVar	criteria provided, single submitter	0.12982456140350876	Multiple epidermal growth factor-like domains prot	C326R	False	False	True	True	False	Q96KG7_325_R
Q9NP81	SARS2	389	D	G	1	ClinVar	criteria provided, single submitter	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	D390G	False	False	False	False	False	Q9NP81_389_G
Q0ZGT2	NEXN	130	Q	E	1	ClinVar	no assertion criteria provided	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	Q131E	False	False	False	False	False	Q0ZGT2_130_E
Q96CU9	FOXRED1	351	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	R352W	False	False	False	False	False	Q96CU9_351_W
C9JR72	KBTBD13	389	K	N	1	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	K390N	False	False	False	True	False	C9JR72_389_N
C9JR72	KBTBD13	407	R	C	1	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	R408C	False	True	False	True	False	C9JR72_407_C
Q86WW8	COA5	52	A	P	1	ClinVar	no assertion criteria provided	0.08108108108108109	Cytochrome c oxidase assembly factor 5	A53P	False	False	False	True	False	Q86WW8_52_P
Q96I36	COX14	18	M	I	1	ClinVar	no assertion criteria provided	0.017543859649122806	Cytochrome c oxidase assembly protein COX14	M19I	True	False	False	False	True	Q96I36_18_I
Q9Y2Z9	COQ6	352	A	D	1	ClinVar	criteria provided, single submitter	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	A353D	False	False	False	False	False	Q9Y2Z9_352_D
Q15049	MLC1	68	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	S69L	False	False	False	False	False	Q15049_68_L
Q8WUU5	GATAD1	101	S	P	1	ClinVar	no assertion criteria provided	0.022304832713754646	GATA zinc finger domain-containing protein 1 (Ocul	S102P	False	False	False	False	False	Q8WUU5_101_P
Q9NQT5	EXOSC3	30	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02909090909090909	Exosome complex component RRP40 (Exosome component	G31A	True	False	False	False	True	Q9NQT5_30_A
P10916	MYL2	165	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	D166V	False	False	False	False	False	P10916_165_V
P08590	MYL3	93	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015384615384615385	Myosin light chain 3 (Cardiac myosin light chain 1	R94H	False	False	False	False	False	P08590_93_H
Q86TC9	MYPN	392	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	V393A	False	False	False	False	False	Q86TC9_392_A
Q86TC9	MYPN	690	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	S691N	False	False	False	False	False	Q86TC9_690_N
Q86TC9	MYPN	706	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	S707N	False	False	False	False	False	Q86TC9_706_N
Q86TC9	MYPN	1134	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	P1135T	False	False	False	False	False	Q86TC9_1134_T
Q86TC9	MYPN	627	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	F628L	False	False	False	False	False	Q86TC9_627_L
Q86TC9	MYPN	802	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	S803R	False	False	False	False	False	Q86TC9_802_R
Q86TC9	MYPN	803	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	G804R	False	False	False	False	False	Q86TC9_803_R
Q86TC9	MYPN	409	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	V410A	False	False	False	False	False	Q86TC9_409_A
Q86TC9	MYPN	466	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	E467K	False	False	False	False	False	Q86TC9_466_K
Q53GG5	PDLIM3	126	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03021978021978022	PDZ and LIM domain protein 3 (Actinin-associated L	V127M	False	False	False	True	False	Q53GG5_126_M
Q53GG5	PDLIM3	244	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03021978021978022	PDZ and LIM domain protein 3 (Actinin-associated L	T245I	False	False	False	True	False	Q53GG5_244_I
P09493	TPM1	61	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E62Q	False	False	False	False	False	P09493_61_Q
P09493	TPM1	62	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	A63V	False	False	False	False	False	P09493_62_V
P09493	TPM1	179	E	V	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E180V	False	False	False	False	False	P09493_179_V
P09493	TPM1	191	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E192K	False	False	False	False	False	P09493_191_K
P09493	TPM1	214	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	S215L	False	False	False	False	False	P09493_214_L
P09493	TPM1	229	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D230N	False	False	False	False	False	P09493_229_N
P09493	TPM1	280	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	M281T	False	False	False	False	False	P09493_280_T
P09493	TPM1	159	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	R160H	False	False	False	False	False	P09493_159_H
P28331	NDUFS1	594	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	T595A	False	False	False	False	False	P28331_594_A
O60706	ABCC9	1153	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	R1154W	False	False	False	False	False	O60706_1153_W
O60706	ABCC9	1153	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	R1154Q	False	False	False	False	False	O60706_1153_Q
Q9HAB3	SLC52A2	305	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029213483146067417	Solute carrier family 52, riboflavin transporter, 	G306R	False	False	False	False	False	Q9HAB3_305_R
O60706	ABCC9	1115	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	R1116H	False	False	False	False	False	O60706_1115_H
O60706	ABCC9	1115	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	R1116C	False	True	False	True	False	O60706_1115_C
Q9Y5U8	MPC1	96	R	W	1	ClinVar	criteria provided, single submitter	0.027522935779816515	Mitochondrial pyruvate carrier 1 (Brain protein 44	R97W	False	False	False	False	False	Q9Y5U8_96_W
Q9Y5U8	MPC1	78	L	H	1	ClinVar	no assertion criteria provided	0.027522935779816515	Mitochondrial pyruvate carrier 1 (Brain protein 44	L79H	False	False	False	False	False	Q9Y5U8_78_H
O14958	CASQ2	243	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005012531328320802	Calsequestrin-2 (Calsequestrin, cardiac muscle iso	H244R	False	False	False	False	False	O14958_243_R
Q02487	DSC2	797	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	R798Q	False	False	False	False	False	Q02487_797_Q
Q14126	DSG2	514	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	V515I	False	False	False	False	False	Q14126_514_I
Q14126	DSG2	882	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	S883P	False	False	False	False	False	Q14126_882_P
Q14126	DSG2	902	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	T903I	False	False	False	False	False	Q14126_902_I
P15924	DSP	938	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	G939S	False	False	False	False	False	P15924_938_S
P15924	DSP	1851	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1852H	False	False	False	False	False	P15924_1851_H
P15924	DSP	304	I	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I305F	False	False	False	False	False	P15924_304_F
O75112	LDB3	634	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	V635I	False	False	False	False	False	O75112_634_I
O75112	LDB3	100	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P101L	False	False	False	False	False	O75112_100_L
O75112	LDB3	250	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	K251R	False	False	False	False	False	O75112_250_R
P02545	LMNA	334	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R335W	False	False	False	False	False	P02545_334_W
P02545	LMNA	470	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R471H	False	False	False	False	False	P02545_470_H
Q14896	MYBPC3	769	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	D770N	False	False	False	False	False	Q14896_769_N
Q14896	MYBPC3	791	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	W792R	False	False	False	False	False	Q14896_791_R
Q14896	MYBPC3	971	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R972W	False	False	False	False	False	Q14896_971_W
Q14896	MYBPC3	997	Q	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	Q998E	False	False	False	False	False	Q14896_997_E
Q14896	MYBPC3	188	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	V189I	False	False	False	False	False	Q14896_188_I
P12883	MYH7	1326	N	K	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N1327K	False	False	False	False	False	P12883_1326_K
P12883	MYH7	1711	R	Q	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1712Q	False	False	False	False	False	P12883_1711_Q
Q9H1R3	MYLK2	143	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	P144A	False	False	False	False	False	Q9H1R3_143_A
Q9UGJ0	PRKAG2	292	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	F293L	False	False	False	False	False	Q9UGJ0_292_L
Q92736	RYR2	1884	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	G1885E	False	False	False	False	False	Q92736_1884_E
Q92736	RYR2	1885	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	G1886S	False	False	False	False	False	Q92736_1885_S
Q92736	RYR2	2957	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	Q2958R	False	False	False	False	False	Q92736_2957_R
P21912	SDHB	10	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R11H	True	False	False	True	True	P21912_10_H
Q9BTV4	TMEM43	311	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	R312W	False	False	False	False	False	Q9BTV4_311_W
O15239	NDUFA1	31	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014285714285714285	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	G32R	True	False	False	False	True	O15239_31_R
A2RRP1	NBAS	1913	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	R1914H	False	False	False	False	False	A2RRP1_1913_H
P13637	ATP1A3	800	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	D801N	False	False	False	False	False	P13637_800_N
P13637	ATP1A3	814	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	E815K	False	False	False	False	False	P13637_814_K
P13637	ATP1A3	946	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G947R	False	False	False	False	False	P13637_946_R
P11166	SLC2A1	211	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R212C	False	True	False	True	False	P11166_211_C
P11166	SLC2A1	231	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R232C	False	True	False	True	False	P11166_231_C
P12883	MYH7	25	A	V	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A26V	True	False	False	False	True	P12883_25_V
P39210	MPV17	93	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	G94R	False	False	False	False	False	P39210_93_R
P39210	MPV17	97	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	P98L	False	False	False	False	False	P39210_97_L
P39210	MPV17	169	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	S170F	False	False	False	False	False	P39210_169_F
P07333	CSF1R	781	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	R782H	False	False	False	False	False	P07333_781_H
P07333	CSF1R	848	F	S	1	ClinVar	no assertion criteria provided	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	F849S	False	False	False	False	False	P07333_848_S
Q9Y4W6	AFG3L2	653	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	T654I	False	False	False	False	False	Q9Y4W6_653_I
Q9Y4W6	AFG3L2	665	M	T	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	M666T	False	False	False	False	False	Q9Y4W6_665_T
Q9Y4W6	AFG3L2	670	G	E	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G671E	False	False	False	False	False	Q9Y4W6_670_E
Q9Y4W6	AFG3L2	699	E	K	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	E700K	False	False	False	False	False	Q9Y4W6_699_K
P05165	PCCA	137	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	A138T	False	False	False	False	False	P05165_137_T
P05165	PCCA	163	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	I164T	False	False	False	False	False	P05165_163_T
P05165	PCCA	287	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R288G	False	False	False	False	False	P05165_287_G
P05166	PCCB	496	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	A497V	False	False	False	False	False	P05166_496_V
P05166	PCCB	511	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R512C	False	True	False	True	False	P05166_511_C
P05166	PCCB	518	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	L519P	False	False	False	False	False	P05166_518_P
P05166	PCCB	535	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	N536D	False	False	False	False	False	P05166_535_D
P05166	PCCB	111	G	D	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G112D	False	False	False	False	False	P05166_111_D
P05166	PCCB	152	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	A153P	False	False	False	False	False	P05166_152_P
P05166	PCCB	287	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	V288I	False	False	False	False	False	P05166_287_I
O00142	TK2	57	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	N58S	False	False	False	False	False	O00142_57_S
O00142	TK2	63	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	T64M	False	False	False	False	False	O00142_63_M
O00142	TK2	65	C	W	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	C66W	False	False	True	True	False	O00142_65_W
O00142	TK2	111	Y	N	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	Y112N	False	False	False	False	False	O00142_111_N
O00142	TK2	129	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R130W	False	False	False	False	False	O00142_129_W
O00142	TK2	129	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R130Q	False	False	False	False	False	O00142_129_Q
O00142	TK2	138	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	A139V	False	False	False	False	False	O00142_138_V
O00142	TK2	182	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R183G	False	False	False	False	False	O00142_182_G
O00142	TK2	182	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R183W	False	False	False	False	False	O00142_182_W
O00142	TK2	187	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	T188A	False	False	False	False	False	O00142_187_A
O00142	TK2	191	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R192K	False	False	False	False	False	O00142_191_K
O00142	TK2	214	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	L215P	False	False	False	False	False	O00142_214_P
Q14524	SCN5A	221	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	R222Q	False	False	False	False	False	Q14524_221_Q
O95817	BAG3	461	L	P	1	ClinVar	criteria provided, single submitter	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	L462P	False	False	False	False	False	O95817_461_P
O95817	BAG3	257	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	R258W	False	False	False	False	False	O95817_257_W
Q9HAB3	SLC52A2	122	L	P	1	ClinVar	criteria provided, single submitter	0.029213483146067417	Solute carrier family 52, riboflavin transporter, 	L123P	False	False	False	False	False	Q9HAB3_122_P
Q11203	ST3GAL3	319	A	P	1	ClinVar	no assertion criteria provided	0.013333333333333334	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha	A320P	False	False	False	False	False	Q11203_319_P
Q5JUK3	KCNT1	795	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	Y796H	False	False	False	False	False	Q5JUK3_795_H
Q5JUK3	KCNT1	397	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	R398Q	False	False	False	False	False	Q5JUK3_397_Q
Q13224	GRIN2B	552	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P553L	False	False	False	False	False	Q13224_552_L
P17661	DES	418	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	P419S	False	False	False	False	False	P17661_418_S
O43526	KCNQ2	212	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R213Q	False	False	False	False	False	O43526_212_Q
O43526	KCNQ2	545	M	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M546V	False	False	False	False	False	O43526_545_V
O43526	KCNQ2	289	G	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G290D	False	False	False	False	False	O43526_289_D
Q9NWS8	RMND1	416	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015590200445434299	Required for meiotic nuclear division protein 1 ho	R417Q	False	False	False	False	False	Q9NWS8_416_Q
Q9NP73	ALG13	93	K	E	1	ClinVar	no assertion criteria provided	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	K94E	False	False	False	False	False	Q9NP73_93_E
Q5JPH6	EARS2	107	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	R108W	False	False	False	False	False	Q5JPH6_107_W
Q5JPH6	EARS2	109	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	G110S	False	False	False	False	False	Q5JPH6_109_S
Q5JPH6	EARS2	95	E	K	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	E96K	False	False	False	False	False	Q5JPH6_95_K
Q5JPH6	EARS2	166	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	C167Y	False	False	True	True	False	Q5JPH6_166_Y
Q5JPH6	EARS2	64	K	E	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	K65E	False	False	False	False	False	Q5JPH6_64_E
O95363	FARS2	143	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	Y144C	False	True	False	True	False	O95363_143_C
O95363	FARS2	328	I	T	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	I329T	False	False	False	False	False	O95363_328_T
O95363	FARS2	390	D	V	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	D391V	False	False	False	False	False	O95363_390_V
Q96DP5	MTFMT	208	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017994858611825194	Methionyl-tRNA formyltransferase, mitochondrial (M	S209L	False	False	False	False	False	Q96DP5_208_L
P63316	TNNC1	30	A	S	1	ClinVar	criteria provided, single submitter	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	A31S	True	False	False	False	True	P63316_30_S
O00217	NDUFS8	158	A	D	1	ClinVar	no assertion criteria provided	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	A159D	False	False	False	True	False	O00217_158_D
O00217	NDUFS8	62	E	Q	1	ClinVar	no assertion criteria provided	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	E63Q	False	False	False	True	False	O00217_62_Q
Q96AD5	PNPLA2	249	Q	P	1	ClinVar	no assertion criteria provided	0.023809523809523808	Patatin-like phospholipase domain-containing prote	Q250P	False	False	False	False	False	Q96AD5_249_P
Q9BQP7	MGME1	232	Y	C	1	ClinVar	no assertion criteria provided	0.020348837209302327	Mitochondrial genome maintenance exonuclease 1 (EC	Y233C	False	True	False	True	False	Q9BQP7_232_C
Q13144	EIF2B5	269	D	H	1	ClinVar	no assertion criteria provided	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	D270H	False	False	False	False	False	Q13144_269_H
Q9NR50	EIF2B3	26	L	Q	1	ClinVar	no assertion criteria provided	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	L27Q	True	False	False	False	True	Q9NR50_26_Q
P49770	EIF2B2	84	V	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	V85E	False	False	False	False	False	P49770_84_E
P09622	DLD	478	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	D479V	False	False	False	False	False	P09622_478_V
P09622	DLD	481	R	G	1	ClinVar	no assertion criteria provided	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	R482G	False	False	False	False	False	P09622_481_G
Q9UHN1	POLG2	204	P	R	1	ClinVar	no assertion criteria provided	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	P205R	False	False	False	False	False	Q9UHN1_204_R
Q9UHN1	POLG2	368	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	R369G	False	False	False	False	False	Q9UHN1_368_G
P15056	BRAF	21	D	N	0	ClinVar	reviewed by expert panel	0.016971279373368148	Serine/threonine-protein kinase B-raf (EC 2.7.11.1	D22N	True	False	False	False	True	P15056_21_N
Q06124	PTPN11	138	E	D	1	ClinVar	reviewed by expert panel	0.016863406408094434	Tyrosine-protein phosphatase non-receptor type 11 	E139D	False	False	False	False	False	Q06124_138_D
Q06124	PTPN11	552	T	M	0	ClinVar	reviewed by expert panel	0.016863406408094434	Tyrosine-protein phosphatase non-receptor type 11 	T553M	False	False	False	False	False	Q06124_552_M
P04049	RAF1	256	S	P	1	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	S257P	False	False	False	False	False	P04049_256_P
P04049	RAF1	260	P	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	P261A	False	False	False	False	False	P04049_260_A
P04049	RAF1	311	V	A	0	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	V312A	False	False	False	False	False	P04049_311_A
P04049	RAF1	474	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	F475L	False	False	False	False	False	P04049_474_L
Q07889	SOS1	654	P	L	0	ClinVar	reviewed by expert panel	0.012753188297074268	Son of sevenless homolog 1 (SOS-1)	P655L	False	False	False	False	False	Q07889_654_L
Q07889	SOS1	707	A	T	0	ClinVar	reviewed by expert panel	0.012753188297074268	Son of sevenless homolog 1 (SOS-1)	A708T	False	False	False	False	False	Q07889_707_T
Q07889	SOS1	718	G	A	0	ClinVar	reviewed by expert panel	0.012753188297074268	Son of sevenless homolog 1 (SOS-1)	G719A	False	False	False	False	False	Q07889_718_A
P36507	MAP2K2	297	P	L	0	ClinVar	reviewed by expert panel	0.0125	Dual specificity mitogen-activated protein kinase 	P298L	False	False	False	False	False	P36507_297_L
Q9Y223	GNE	175	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	D176V	False	False	False	False	False	Q9Y223_175_V
Q13586	STIM1	428	R	C	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	R429C	False	True	False	True	False	Q13586_428_C
P31483	TIA1	383	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015544041450777202	Cytotoxic granule associated RNA binding protein T	E384K	False	False	False	False	False	P31483_383_K
Q13586	STIM1	83	D	G	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	D84G	False	False	False	False	False	Q13586_83_G
Q13586	STIM1	108	H	N	1	ClinVar	no assertion criteria provided	0.0072992700729927005	Stromal interaction molecule 1	H109N	False	False	False	False	False	Q13586_108_N
Q13586	STIM1	108	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0072992700729927005	Stromal interaction molecule 1	H109R	False	False	False	False	False	Q13586_108_R
Q13586	STIM1	71	H	Q	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	H72Q	False	False	False	False	False	Q13586_71_Q
Q99643	SDHC	113	H	L	0	ClinVar	no assertion criteria provided	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	H114L	False	False	False	False	False	Q99643_113_L
Q9NX18	SDHAF2	32	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	R33C	True	True	False	True	True	Q9NX18_32_C
P22695	UQCRC2	182	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	R183W	False	False	False	False	False	P22695_182_W
P02511	CRYAB	108	D	H	1	ClinVar	no assertion criteria provided	0.0	Alpha-crystallin B chain (Alpha(B)-crystallin) (He	D109H	False	False	False	False	False	P02511_108_H
P21817	RYR1	3401	C	G	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	C3402G	False	False	True	True	False	P21817_3401_G
P21817	RYR1	401	M	T	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	M402T	False	False	False	False	False	P21817_401_T
P68133	ACTA1	47	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G48D	True	False	False	False	True	P68133_47_D
P68133	ACTA1	5	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E6K	True	False	False	False	True	P68133_5_K
P06753	TPM3	90	R	P	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R91P	False	False	False	False	False	P06753_90_P
Q14896	MYBPC3	381	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R382W	False	False	False	False	False	Q14896_381_W
Q14896	MYBPC3	494	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R495G	False	False	False	False	False	Q14896_494_G
Q14896	MYBPC3	501	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R502W	False	False	False	False	False	Q14896_501_W
Q14896	MYBPC3	501	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R502Q	False	False	False	False	False	Q14896_501_Q
Q14896	MYBPC3	521	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	A522T	False	False	False	False	False	Q14896_521_T
Q14896	MYBPC3	530	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	G531R	False	False	False	False	False	Q14896_530_R
Q14896	MYBPC3	832	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	A833V	False	False	False	False	False	Q14896_832_V
Q14896	MYBPC3	871	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	E872K	False	False	False	False	False	Q14896_871_K
Q14896	MYBPC3	895	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	V896M	False	False	False	False	False	Q14896_895_M
Q14896	MYBPC3	1001	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R1002W	False	False	False	False	False	Q14896_1001_W
Q14896	MYBPC3	1035	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R1036C	False	True	False	True	False	Q14896_1035_C
Q14896	MYBPC3	157	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	V158M	False	False	False	False	False	Q14896_157_M
Q14896	MYBPC3	176	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R177H	False	False	False	False	False	Q14896_176_H
Q14896	MYBPC3	218	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	V219L	False	False	False	False	False	Q14896_218_L
Q14896	MYBPC3	235	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	S236G	False	False	False	False	False	Q14896_235_G
Q14896	MYBPC3	236	Y	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	Y237S	False	False	False	False	False	Q14896_236_S
Q14896	MYBPC3	257	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	E258K	False	False	False	False	False	Q14896_257_K
Q14896	MYBPC3	277	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	G278E	False	False	False	False	False	Q14896_277_E
Q14896	MYBPC3	325	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R326Q	False	False	False	False	False	Q14896_325_Q
P12883	MYH7	354	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A355T	False	False	False	False	False	P12883_354_T
P12883	MYH7	368	R	Q	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R369Q	False	False	False	False	False	P12883_368_Q
P12883	MYH7	406	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G407V	False	False	False	False	False	P12883_406_V
P12883	MYH7	439	V	M	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V440M	False	False	False	False	False	P12883_439_M
P12883	MYH7	452	R	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R453H	False	False	False	False	False	P12883_452_H
P12883	MYH7	456	I	T	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I457T	False	False	False	False	False	P12883_456_T
P12883	MYH7	510	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I511T	False	False	False	False	False	P12883_510_T
P12883	MYH7	583	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G584S	False	False	False	False	False	P12883_583_S
P12883	MYH7	599	P	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P600S	False	False	False	False	False	P12883_599_S
P12883	MYH7	662	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R663C	False	True	False	True	False	P12883_662_C
P12883	MYH7	662	R	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R663H	False	False	False	False	False	P12883_662_H
P12883	MYH7	701	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I702N	False	False	False	False	False	P12883_701_N
P12883	MYH7	707	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G708A	False	False	False	False	False	P12883_707_A
P12883	MYH7	722	R	G	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R723G	False	False	False	False	False	P12883_722_G
P12883	MYH7	782	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R783P	False	False	False	False	False	P12883_782_P
P12883	MYH7	786	R	H	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R787H	False	False	False	False	False	P12883_786_H
P12883	MYH7	837	P	L	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P838L	False	False	False	False	False	P12883_837_L
P12883	MYH7	841	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S842N	False	False	False	False	False	P12883_841_N
P12883	MYH7	848	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M849T	False	False	False	False	False	P12883_848_T
P12883	MYH7	851	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M852T	False	False	False	False	False	P12883_851_T
P12883	MYH7	881	Q	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q882E	False	False	False	False	False	P12883_881_E
P12883	MYH7	893	E	G	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E894G	False	False	False	False	False	P12883_893_G
P12883	MYH7	903	R	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R904H	False	False	False	False	False	P12883_903_H
P12883	MYH7	914	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L915P	False	False	False	False	False	P12883_914_P
P12883	MYH7	926	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E927K	False	False	False	False	False	P12883_926_K
P12883	MYH7	929	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E930K	False	False	False	False	False	P12883_929_K
P12883	MYH7	981	M	T	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M982T	False	False	False	False	False	P12883_981_T
P12883	MYH7	1044	R	L	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1045L	False	False	False	False	False	P12883_1044_L
P12883	MYH7	1056	G	S	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G1057S	False	False	False	False	False	P12883_1056_S
P12883	MYH7	1095	D	Y	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D1096Y	False	False	False	False	False	P12883_1095_Y
P12883	MYH7	1127	A	T	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1128T	False	False	False	False	False	P12883_1127_T
P12883	MYH7	1192	R	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1193H	False	False	False	False	False	P12883_1192_H
P12883	MYH7	1376	T	M	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T1377M	False	False	False	False	False	P12883_1376_M
P12883	MYH7	1378	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1379T	False	False	False	False	False	P12883_1378_T
P12883	MYH7	1419	R	W	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1420W	False	False	False	False	False	P12883_1419_W
P12883	MYH7	1419	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1420Q	False	False	False	False	False	P12883_1419_Q
P12883	MYH7	142	R	Q	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R143Q	False	False	False	False	False	P12883_142_Q
P12883	MYH7	1458	K	N	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K1459N	False	False	False	False	False	P12883_1458_N
P12883	MYH7	145	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K146N	False	False	False	False	False	P12883_145_N
P12883	MYH7	1490	S	C	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S1491C	False	True	False	True	False	P12883_1490_C
P12883	MYH7	1636	A	T	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1637T	False	False	False	False	False	P12883_1636_T
P12883	MYH7	168	R	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R169S	False	False	False	False	False	P12883_168_S
P12883	MYH7	1800	E	K	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1801K	False	False	False	False	False	P12883_1800_K
P12883	MYH7	1901	E	Q	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1902Q	False	False	False	False	False	P12883_1901_Q
P12883	MYH7	1905	A	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1906G	False	False	False	False	False	P12883_1905_G
P12883	MYH7	1913	E	K	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1914K	False	False	False	False	False	P12883_1913_K
P12883	MYH7	200	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I201T	False	False	False	False	False	P12883_200_T
P12883	MYH7	203	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R204H	False	False	False	False	False	P12883_203_H
P12883	MYH7	236	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R237W	False	False	False	False	False	P12883_236_W
P12883	MYH7	238	D	N	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D239N	False	False	False	False	False	P12883_238_N
P12883	MYH7	262	I	T	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I263T	False	False	False	False	False	P12883_262_T
P19429	TNNI3	140	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R141Q	False	False	False	False	False	P19429_140_Q
P19429	TNNI3	143	L	P	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	L144P	False	False	False	False	False	P19429_143_P
P19429	TNNI3	144	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R145Q	False	False	False	False	False	P19429_144_Q
P19429	TNNI3	154	M	T	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	M155T	False	False	False	False	False	P19429_154_T
P19429	TNNI3	156	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	A157V	False	False	False	False	False	P19429_156_V
P19429	TNNI3	161	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R162Q	False	False	False	False	False	P19429_161_Q
P19429	TNNI3	161	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R162P	False	False	False	False	False	P19429_161_P
P19429	TNNI3	181	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	E182K	False	False	False	False	False	P19429_181_K
P19429	TNNI3	183	E	K	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	E184K	False	False	False	False	False	P19429_183_K
P19429	TNNI3	185	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R186Q	False	False	False	False	False	P19429_185_Q
P09493	TPM1	7	M	R	1	ClinVar	no assertion criteria provided	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	M8R	True	False	False	False	True	P09493_7_R
P09493	TPM1	113	E	G	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E114G	False	False	False	False	False	P09493_113_G
P09493	TPM1	140	M	I	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	M141I	False	False	False	False	False	P09493_140_I
P09493	TPM1	158	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D159N	False	False	False	False	False	P09493_158_N
P09493	TPM1	237	R	W	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	R238W	False	False	False	False	False	P09493_237_W
P10916	MYL2	161	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	G162E	False	False	False	False	False	P10916_161_E
P45379	TNNT2	97	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	D98E	False	False	False	False	False	P45379_97_E
P45379	TNNT2	95	D	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	D96A	False	False	False	False	False	P45379_95_A
P45379	TNNT2	101	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R102W	False	False	False	False	False	P45379_101_W
P45379	TNNT2	103	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R104H	False	False	False	False	False	P45379_103_H
P45379	TNNT2	103	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R104L	False	False	False	False	False	P45379_103_L
P45379	TNNT2	127	E	K	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	E128K	False	False	False	False	False	P45379_127_K
P45379	TNNT2	139	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R140C	False	True	False	True	False	P45379_139_C
P45379	TNNT2	140	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R141Q	False	False	False	False	False	P45379_140_Q
P45379	TNNT2	140	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R141P	False	False	False	False	False	P45379_140_P
P45379	TNNT2	143	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R144G	False	False	False	False	False	P45379_143_G
P45379	TNNT2	182	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R183Q	False	False	False	False	False	P45379_182_Q
P45379	TNNT2	262	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	K263R	False	False	False	False	False	P45379_262_R
Q92736	RYR2	378	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	V379M	False	False	False	False	False	Q92736_378_M
Q92736	RYR2	4280	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	T4281M	False	False	False	False	False	Q92736_4280_M
Q92736	RYR2	506	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	V507I	False	False	False	False	False	Q92736_506_I
Q92736	RYR2	1135	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	A1136V	False	False	False	False	False	Q92736_1135_V
Q92736	RYR2	1399	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	S1400G	False	False	False	False	False	Q92736_1399_G
Q92736	RYR2	3186	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	K3187R	False	False	False	False	False	Q92736_3186_R
P35609	ACTN2	474	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	D475N	False	False	False	False	False	P35609_474_N
P35609	ACTN2	603	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	M604V	False	False	False	False	False	P35609_603_V
Q5T481	RBM20	454	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S455L	False	False	False	False	False	Q5T481_454_L
Q5T481	RBM20	635	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R636C	False	True	False	True	False	Q5T481_635_C
Q5T481	RBM20	767	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S768L	False	False	False	False	False	Q5T481_767_L
Q5T481	RBM20	912	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	E913K	False	False	False	False	False	Q5T481_912_K
Q5T481	RBM20	1056	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R1057Q	False	False	False	False	False	Q5T481_1056_Q
Q5T481	RBM20	1124	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	E1125K	False	False	False	False	False	Q5T481_1124_K
Q5T481	RBM20	1222	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	E1223Q	False	False	False	False	False	Q5T481_1222_Q
Q5T481	RBM20	172	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P173T	False	False	False	False	False	Q5T481_172_T
Q5T481	RBM20	231	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G232D	False	False	False	False	False	Q5T481_231_D
O14958	CASQ2	75	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005012531328320802	Calsequestrin-2 (Calsequestrin, cardiac muscle iso	V76M	False	False	False	False	False	O14958_75_M
P17661	DES	458	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	V459I	False	False	False	False	False	P17661_458_I
P17661	DES	12	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	S13F	True	False	False	False	True	P17661_12_F
Q14126	DSG2	350	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	S351G	False	False	False	False	False	Q14126_350_G
Q14126	DSG2	712	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	E713K	False	False	False	False	False	Q14126_712_K
Q14126	DSG2	772	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	R773K	False	False	False	False	False	Q14126_772_K
Q14126	DSG2	862	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	M863L	False	False	False	False	False	Q14126_862_L
Q14126	DSG2	88	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	Y89C	False	True	False	True	False	Q14126_88_C
Q14126	DSG2	919	V	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	V920G	False	False	False	False	False	Q14126_919_G
Q14126	DSG2	961	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	I962M	False	False	False	False	False	Q14126_961_M
Q14126	DSG2	157	V	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	V158G	False	False	False	False	False	Q14126_157_G
Q14126	DSG2	292	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	I293V	False	False	False	False	False	Q14126_292_V
Q16363	LAMA4	497	Y	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	Y498H	False	False	False	False	False	Q16363_497_H
Q16363	LAMA4	544	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	R545C	False	True	False	True	False	Q16363_544_C
Q16363	LAMA4	666	D	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	D667Y	False	False	False	False	False	Q16363_666_Y
Q16363	LAMA4	936	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	E937G	False	False	False	False	False	Q16363_936_G
Q16363	LAMA4	93	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	G94S	False	False	False	False	False	Q16363_93_S
Q16363	LAMA4	983	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	V984I	False	False	False	False	False	Q16363_983_I
Q16363	LAMA4	1079	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	R1080Q	False	False	False	False	False	Q16363_1079_Q
Q16363	LAMA4	1116	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	G1117S	False	False	False	False	False	Q16363_1116_S
Q16363	LAMA4	1118	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	P1119R	False	False	False	False	False	Q16363_1118_R
Q16363	LAMA4	153	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	R154W	False	False	False	False	False	Q16363_153_W
Q16363	LAMA4	1548	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	N1549S	False	False	False	False	False	Q16363_1548_S
Q16363	LAMA4	1563	S	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	S1564I	False	False	False	False	False	Q16363_1563_I
Q16363	LAMA4	171	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	G172S	False	False	False	False	False	Q16363_171_S
Q16363	LAMA4	1814	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	V1815I	False	False	False	False	False	Q16363_1814_I
P13473	LAMP2	251	I	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024390243902439025	Lysosome-associated membrane glycoprotein 2 (LAMP-	I252S	False	False	False	False	False	P13473_251_S
P13533	MYH6	376	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	D377E	False	False	False	False	False	P13533_376_E
P13533	MYH6	55	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	G56R	False	False	False	False	False	P13533_55_R
P13533	MYH6	935	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	A936S	False	False	False	False	False	P13533_935_S
P13533	MYH6	963	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	A964S	False	False	False	False	False	P13533_963_S
P13533	MYH6	1100	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	V1101A	False	False	False	False	False	P13533_1100_A
P13533	MYH6	1129	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	A1130T	False	False	False	False	False	P13533_1129_T
P13533	MYH6	1294	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	E1295Q	False	False	False	False	False	P13533_1294_Q
P13533	MYH6	1592	Q	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	Q1593L	False	False	False	False	False	P13533_1592_L
P13533	MYH6	1612	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	V1613A	False	False	False	False	False	P13533_1612_A
P13533	MYH6	1635	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	R1636C	False	True	False	True	False	P13533_1635_C
P13533	MYH6	207	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	D208N	False	False	False	False	False	P13533_207_N
O15273	TCAP	63	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029940119760479042	Telethonin (Titin cap protein)	S64L	False	False	False	False	False	O15273_63_L
O15273	TCAP	105	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029940119760479042	Telethonin (Titin cap protein)	R106C	False	True	False	True	False	O15273_105_C
O95677	EYA4	276	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012519561815336464	Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absen	G277S	False	False	False	False	False	O95677_276_S
O95817	BAG3	406	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P407L	False	False	False	False	False	O95817_406_L
O95817	BAG3	454	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	E455K	False	False	False	False	False	O95817_454_K
O95817	BAG3	70	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	R71Q	False	False	False	False	False	O95817_70_Q
O95817	BAG3	82	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	H83Q	False	False	False	False	False	O95817_82_Q
O95817	BAG3	150	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	C151R	False	False	True	True	False	O95817_150_R
P15924	DSP	3	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	N4K	True	False	False	False	True	P15924_3_K
P15924	DSP	493	Y	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y494F	False	False	False	False	False	P15924_493_F
P15924	DSP	592	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	N593S	False	False	False	False	False	P15924_592_S
P15924	DSP	986	S	P	1	ClinVar	no assertion criteria provided	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	S987P	False	False	False	False	False	P15924_986_P
P15924	DSP	1380	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T1381S	False	False	False	False	False	P15924_1380_S
P15924	DSP	1457	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1458G	False	False	False	False	False	P15924_1457_G
P15924	DSP	1484	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1485S	False	False	False	False	False	P15924_1484_S
P15924	DSP	1511	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y1512C	False	True	False	True	False	P15924_1511_C
P15924	DSP	1536	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1537C	False	True	False	True	False	P15924_1536_C
P15924	DSP	1525	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	N1526K	False	False	False	False	False	P15924_1525_K
P15924	DSP	1583	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A1584T	False	False	False	False	False	P15924_1583_T
P15924	DSP	1737	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1738Q	False	False	False	False	False	P15924_1737_Q
P15924	DSP	1832	E	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E1833V	False	False	False	False	False	P15924_1832_V
P15924	DSP	2218	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V2219I	False	False	False	False	False	P15924_2218_I
P15924	DSP	2766	T	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T2767N	False	False	False	False	False	P15924_2766_N
Q99959	PKP2	337	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	T338A	False	False	False	False	False	Q99959_337_A
Q99959	PKP2	365	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	L366P	False	False	False	False	False	Q99959_365_P
Q99959	PKP2	57	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	E58D	False	False	False	False	False	Q99959_57_D
Q99959	PKP2	69	S	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	S70I	False	False	False	False	False	Q99959_69_I
Q99959	PKP2	235	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	A236S	False	False	False	False	False	Q99959_235_S
Q99959	PKP2	25	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	D26N	True	False	False	False	True	Q99959_25_N
Q99959	PKP2	263	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	A264V	False	False	False	False	False	Q99959_263_V
P68032	ACTC1	184	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	R185W	False	False	False	False	False	P68032_184_W
O60706	ABCC9	1136	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	V1137I	False	False	False	False	False	O60706_1136_I
O76041	NEBL	350	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	M351V	False	False	False	False	False	O76041_350_V
O76041	NEBL	377	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	D378H	False	False	False	False	False	O76041_377_H
O76041	NEBL	3	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	P4L	True	False	False	False	True	O76041_3_L
O76041	NEBL	433	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	I434M	False	False	False	False	False	O76041_433_M
O76041	NEBL	620	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	I621V	False	False	False	False	False	O76041_620_V
O76041	NEBL	653	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	N654K	False	False	False	False	False	O76041_653_K
O76041	NEBL	685	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	V686A	False	False	False	False	False	O76041_685_A
O76041	NEBL	727	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	T728A	False	False	False	False	False	O76041_727_A
O76041	NEBL	827	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	I828V	False	False	False	False	False	O76041_827_V
O76041	NEBL	884	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	S885F	False	False	False	False	False	O76041_884_F
O76041	NEBL	218	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	A219D	False	False	False	False	False	O76041_218_D
O75112	LDB3	486	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	R487H	False	False	False	False	False	O75112_486_H
O75112	LDB3	54	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	V55I	False	False	False	False	False	O75112_54_I
O75112	LDB3	117	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	V118M	False	False	False	False	False	O75112_117_M
P18206	VCL	412	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008818342151675485	Vinculin (Metavinculin) (MV)	A413T	False	False	False	False	False	P18206_412_T
P18206	VCL	933	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008818342151675485	Vinculin (Metavinculin) (MV)	A934V	False	False	False	False	False	P18206_933_V
Q15327	ANKRD1	49	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01567398119122257	Ankyrin repeat domain-containing protein 1 (Cardia	A50P	True	False	False	False	True	Q15327_49_P
Q15327	ANKRD1	65	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01567398119122257	Ankyrin repeat domain-containing protein 1 (Cardia	R66G	False	False	False	False	False	Q15327_65_G
Q15327	ANKRD1	106	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01567398119122257	Ankyrin repeat domain-containing protein 1 (Cardia	V107L	False	False	False	False	False	Q15327_106_L
Q9UGJ0	PRKAG2	19	S	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	S20I	True	False	False	False	True	Q9UGJ0_19_I
Q9UGJ0	PRKAG2	322	F	I	1	ClinVar	no assertion criteria provided	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	F323I	False	False	False	False	False	Q9UGJ0_322_I
Q9NPC6	MYOZ2	9	Q	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)	Q10P	True	False	False	False	True	Q9NPC6_9_P
Q8WUU5	GATAD1	53	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022304832713754646	GATA zinc finger domain-containing protein 1 (Ocul	G54S	False	False	False	False	False	Q8WUU5_53_S
Q8WUU5	GATAD1	232	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022304832713754646	GATA zinc finger domain-containing protein 1 (Ocul	R233W	False	False	False	False	False	Q8WUU5_232_W
P14923	JUP	686	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0174496644295302	Junction plakoglobin (Catenin gamma) (Desmoplakin 	I687V	False	False	False	False	False	P14923_686_V
P14923	JUP	141	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0174496644295302	Junction plakoglobin (Catenin gamma) (Desmoplakin 	R142H	False	False	False	False	False	P14923_141_H
Q9BTV4	TMEM43	365	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	A366T	False	False	False	False	False	Q9BTV4_365_T
Q9BTV4	TMEM43	368	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	L369F	False	False	False	False	False	Q9BTV4_368_F
Q9BTV4	TMEM43	167	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	K168N	False	False	False	False	False	Q9BTV4_167_N
Q9BTV4	TMEM43	178	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	M179T	False	False	False	False	False	Q9BTV4_178_T
Q9BTV4	TMEM43	27	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	R28W	True	False	False	False	True	Q9BTV4_27_W
Q9BTV4	TMEM43	317	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	A318V	False	False	False	False	False	Q9BTV4_317_V
Q02487	DSC2	357	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	T358I	False	False	False	False	False	Q02487_357_I
Q02487	DSC2	775	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	I776V	False	False	False	False	False	Q02487_775_V
Q02487	DSC2	10	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	N11S	True	False	False	False	True	Q02487_10_S
Q9H1R3	MYLK2	57	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	A58D	False	False	False	False	False	Q9H1R3_57_D
Q9H1R3	MYLK2	88	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	G89D	False	False	False	False	False	Q9H1R3_88_D
Q8WZ42	TTN	334	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V335M	False	False	False	False	False	Q8WZ42_334_M
Q8WZ42	TTN	3366	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R3367Q	False	False	False	False	False	Q8WZ42_3366_Q
Q8WZ42	TTN	3418	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	S3419N	False	False	False	False	False	Q8WZ42_3418_N
Q8WZ42	TTN	359	R	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R360T	False	False	False	False	False	Q8WZ42_359_T
Q8WZ42	TTN	497	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V498I	False	False	False	False	False	Q8WZ42_497_I
Q8WZ42	TTN	59	D	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	D60Y	False	False	False	False	False	Q8WZ42_59_Y
Q8WZ42	TTN	7743	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	N7744K	False	False	False	False	False	Q8WZ42_7743_K
Q8WZ42	TTN	8407	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T8408I	False	False	False	False	False	Q8WZ42_8407_I
Q8WZ42	TTN	756	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	P757L	False	False	False	False	False	Q8WZ42_756_L
Q8WZ42	TTN	810	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T811I	False	False	False	False	False	Q8WZ42_810_I
Q8WZ42	TTN	1200	K	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	K1201E	False	False	False	False	False	Q8WZ42_1200_E
Q8WZ42	TTN	1222	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A1223V	False	False	False	False	False	Q8WZ42_1222_V
Q8WZ42	TTN	1294	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	S1295L	False	False	False	False	False	Q8WZ42_1294_L
Q8WZ42	TTN	1392	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	I1393V	False	False	False	False	False	Q8WZ42_1392_V
Q8WZ42	TTN	1415	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R1416C	False	True	False	True	False	Q8WZ42_1415_C
Q8WZ42	TTN	1440	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R1441P	False	False	False	False	False	Q8WZ42_1440_P
Q8WZ42	TTN	1442	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	L1443P	False	False	False	False	False	Q8WZ42_1442_P
Q8WZ42	TTN	1543	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	I1544V	False	False	False	False	False	Q8WZ42_1543_V
Q8WZ42	TTN	1571	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R1572Q	False	False	False	False	False	Q8WZ42_1571_Q
Q8WZ42	TTN	1579	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T1580M	False	False	False	False	False	Q8WZ42_1579_M
Q8WZ42	TTN	19227	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R19228H	False	False	False	False	False	Q8WZ42_19227_H
Q8WZ42	TTN	1743	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	P1744L	False	False	False	False	False	Q8WZ42_1743_L
Q8WZ42	TTN	20163	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V20164L	False	False	False	False	False	Q8WZ42_20163_L
Q8WZ42	TTN	180	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	S181N	False	False	False	False	False	Q8WZ42_180_N
Q8WZ42	TTN	2242	D	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	D2243Y	False	False	False	False	False	Q8WZ42_2242_Y
Q8WZ42	TTN	25759	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	N25760S	False	False	False	False	False	Q8WZ42_25759_S
Q8WZ42	TTN	2391	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	G2392S	False	False	False	False	False	Q8WZ42_2391_S
Q8WZ42	TTN	26620	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T26621M	False	False	False	False	False	Q8WZ42_26620_M
Q8WZ42	TTN	2579	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	I2580M	False	False	False	False	False	Q8WZ42_2579_M
Q8WZ42	TTN	2609	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	M2610I	False	False	False	False	False	Q8WZ42_2609_I
Q8WZ42	TTN	30524	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	I30525V	False	False	False	False	False	Q8WZ42_30524_V
Q8WZ42	TTN	2822	V	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V2823F	False	False	False	False	False	Q8WZ42_2822_F
Q8WZ42	TTN	2830	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	S2831N	False	False	False	False	False	Q8WZ42_2830_N
Q8WZ42	TTN	33526	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V33527I	False	False	False	False	False	Q8WZ42_33526_I
Q8WZ42	TTN	3153	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	K3154R	False	False	False	False	False	Q8WZ42_3153_R
Q8WZ42	TTN	323	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	P324S	False	False	False	False	False	Q8WZ42_323_S
Q8WZ42	TTN	3260	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V3261M	False	False	False	False	False	Q8WZ42_3260_M
Q8WZ42	TTN	327	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R328C	False	True	False	True	False	Q8WZ42_327_C
Q8WZ42	TTN	3807	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	P3808S	False	False	False	False	False	Q8WZ42_3807_S
Q0ZGT2	NEXN	244	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	G245R	False	False	False	False	False	Q0ZGT2_244_R
Q0ZGT2	NEXN	331	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	E332A	False	False	False	False	False	Q0ZGT2_331_A
P02545	LMNA	376	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R377C	False	True	False	True	False	P02545_376_C
P02545	LMNA	51	L	V	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L52V	False	False	False	False	False	P02545_51_V
P02545	LMNA	540	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R541C	False	True	False	True	False	P02545_540_C
P02545	LMNA	110	E	Q	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E111Q	False	False	False	False	False	P02545_110_Q
P02545	LMNA	149	T	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	T150P	False	False	False	False	False	P02545_149_P
P02545	LMNA	161	L	P	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L162P	False	False	False	False	False	P02545_161_P
P02545	LMNA	202	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E203K	False	False	False	False	False	P02545_202_K
P02545	LMNA	266	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	Y267H	False	False	False	False	False	P02545_266_H
P02545	LMNA	316	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E317K	False	False	False	False	False	P02545_316_K
Q14524	SCN5A	33	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	R34C	True	True	False	True	True	Q14524_33_C
Q14524	SCN5A	523	S	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	S524Y	False	False	False	False	False	Q14524_523_Y
Q14524	SCN5A	655	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	P656L	False	False	False	False	False	Q14524_655_L
Q14524	SCN5A	1088	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	P1089L	False	False	False	False	False	Q14524_1088_L
Q14192	FHL2	176	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.12544802867383512	Four and a half LIM domains protein 2 (FHL-2) (LIM	R177Q	False	False	False	True	False	Q14192_176_Q
Q14192	FHL2	28	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.12544802867383512	Four and a half LIM domains protein 2 (FHL-2) (LIM	V29M	True	False	False	True	True	Q14192_28_M
Q8TB37	NUBPL	192	L	F	1	ClinVar	no assertion criteria provided	0.012539184952978056	Iron-sulfur cluster transfer protein NUBPL (IND1 h	L193F	False	False	False	False	False	Q8TB37_192_F
P68133	ACTA1	327	K	N	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	K328N	False	False	False	False	False	P68133_327_N
P28331	NDUFS1	618	D	N	1	ClinVar	no assertion criteria provided	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	D619N	False	False	False	False	False	P28331_618_N
Q8TD16	BICD2	106	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0048543689320388345	Protein bicaudal D homolog 2 (Bic-D 2)	S107L	False	False	False	False	False	Q8TD16_106_L
Q16740	CLPP	144	T	P	1	ClinVar	no assertion criteria provided	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	T145P	False	False	False	False	False	Q16740_144_P
Q16740	CLPP	146	C	S	1	ClinVar	no assertion criteria provided	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	C147S	False	False	True	True	False	Q16740_146_S
Q15031	LARS2	521	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	T522N	False	False	False	False	False	Q15031_521_N
Q15031	LARS2	628	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	T629M	False	False	False	False	False	Q15031_628_M
Q5RI15	COX20	51	T	P	1	ClinVar	no assertion criteria provided	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	T52P	False	False	False	True	False	Q5RI15_51_P
P23378	GLDC	370	H	D	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H371D	False	False	False	False	False	P23378_370_D
P23378	GLDC	439	I	N	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	I440N	False	False	False	False	False	P23378_439_N
P23378	GLDC	460	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R461Q	False	False	False	False	False	P23378_460_Q
P23378	GLDC	532	N	Y	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N533Y	False	False	False	False	False	P23378_532_Y
P23378	GLDC	643	C	F	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C644F	False	False	True	True	False	P23378_643_F
P23378	GLDC	650	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H651R	False	False	False	False	False	P23378_650_R
P23378	GLDC	693	A	P	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A694P	False	False	False	False	False	P23378_693_P
P23378	GLDC	699	P	A	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P700A	False	False	False	False	False	P23378_699_A
P23378	GLDC	701	T	I	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T702I	False	False	False	False	False	P23378_701_I
P23378	GLDC	727	G	R	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G728R	False	False	False	False	False	P23378_727_R
P23378	GLDC	752	H	P	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H753P	False	False	False	False	False	P23378_752_P
P23378	GLDC	761	G	R	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G762R	False	False	False	False	False	P23378_761_R
P23378	GLDC	768	P	L	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P769L	False	False	False	False	False	P23378_768_L
P23378	GLDC	770	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G771R	False	False	False	False	False	P23378_770_R
P23378	GLDC	81	L	W	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L82W	False	False	False	False	False	P23378_81_W
P23378	GLDC	829	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T830M	False	False	False	False	False	P23378_829_M
P23378	GLDC	948	P	L	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P949L	False	False	False	False	False	P23378_948_L
P23378	GLDC	965	R	G	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R966G	False	False	False	False	False	P23378_965_G
P23378	GLDC	131	S	W	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S132W	False	False	False	False	False	P23378_131_W
P23378	GLDC	137	Y	F	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Y138F	False	False	False	False	False	P23378_137_F
P23378	GLDC	149	N	T	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N150T	False	False	False	False	False	P23378_149_T
P23378	GLDC	160	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Y161C	False	True	False	True	False	P23378_160_C
P23378	GLDC	186	T	K	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T187K	False	False	False	False	False	P23378_186_K
P23378	GLDC	201	A	V	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A202V	False	False	False	False	False	P23378_201_V
P23378	GLDC	268	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T269M	False	False	False	False	False	P23378_268_M
P23378	GLDC	282	A	P	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A283P	False	False	False	False	False	P23378_282_P
P23378	GLDC	295	L	R	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L296R	False	False	False	False	False	P23378_295_R
P48728	AMT	46	G	W	1	ClinVar	no assertion criteria provided	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	G47W	True	False	False	False	True	P48728_46_W
P48728	AMT	76	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	S77L	False	False	False	False	False	P48728_76_L
P48728	AMT	144	N	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	N145I	False	False	False	False	False	P48728_144_I
P48728	AMT	224	Y	C	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	Y225C	False	True	False	True	False	P48728_224_C
P48728	AMT	295	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R296H	False	False	False	False	False	P48728_295_H
O43914	TYROBP	38	S	N	1	ClinVar	no assertion criteria provided	0.02654867256637168	TYRO protein tyrosine kinase-binding protein (DNAX	S39N	True	False	False	False	True	O43914_38_N
Q9Y276	BCS1L	143	R	Q	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R144Q	False	False	False	False	False	Q9Y276_143_Q
Q9Y276	BCS1L	326	V	A	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	V327A	False	False	False	False	False	Q9Y276_326_A
Q5T440	IBA57	313	Q	P	1	ClinVar	no assertion criteria provided	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	Q314P	False	False	False	False	False	Q5T440_313_P
Q9ULP9	TBC1D24	228	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	F229S	False	False	False	True	False	Q9ULP9_228_S
P12111	COL6A3	2064	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2065S	False	False	False	False	False	P12111_2064_S
Q2TBA0	KLHL40	527	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	E528K	False	False	False	False	False	Q2TBA0_527_K
Q2TBA0	KLHL40	468	G	C	1	ClinVar	criteria provided, single submitter	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	G469C	False	True	False	True	False	Q2TBA0_468_C
Q2TBA0	KLHL40	200	W	L	1	ClinVar	no assertion criteria provided	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	W201L	False	False	False	False	False	Q2TBA0_200_L
Q2TBA0	KLHL40	537	A	P	1	ClinVar	no assertion criteria provided	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	A538P	False	False	False	False	False	Q2TBA0_537_P
P18507	GABRG2	322	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	R323Q	False	False	False	False	False	P18507_322_Q
Q9UQD0	SCN8A	1330	L	V	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1331V	False	False	False	False	False	Q9UQD0_1330_V
Q9HAZ2	PRDM16	1100	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028996865203761754	Histone-lysine N-methyltransferase PRDM16 (EC 2.1.	V1101M	False	False	False	False	False	Q9HAZ2_1100_M
Q9HAZ2	PRDM16	886	L	P	1	ClinVar	no assertion criteria provided	0.028996865203761754	Histone-lysine N-methyltransferase PRDM16 (EC 2.1.	L887P	False	False	False	False	False	Q9HAZ2_886_P
Q07699	SCN1B	84	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03211009174311927	Sodium channel regulatory subunit beta-1	R85H	False	False	False	True	False	Q07699_84_H
Q14896	MYBPC3	489	G	V	1	ClinVar	no assertion criteria provided	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	G490V	False	False	False	False	False	Q14896_489_V
Q9H9J2	MRPL44	155	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018072289156626505	Large ribosomal subunit protein mL44 (EC 3.1.26.-)	L156R	False	False	False	False	False	Q9H9J2_155_R
P09651	HNRNPA1	313	D	V	1	ClinVar	criteria provided, single submitter	0.005376344086021506	Heterogeneous nuclear ribonucleoprotein A1 (hnRNP 	D314V	False	False	False	False	False	P09651_313_V
Q9Y6M9	NDUFB9	63	L	P	1	ClinVar	no assertion criteria provided	0.0223463687150838	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	L64P	False	False	False	False	False	Q9Y6M9_63_P
P54098	POLG	516	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G517V	False	False	False	False	False	P54098_516_V
P07333	CSF1R	776	R	W	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	R777W	False	False	False	False	False	P07333_776_W
P07333	CSF1R	827	F	S	1	ClinVar	no assertion criteria provided	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	F828S	False	False	False	False	False	P07333_827_S
P02545	LMNA	214	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L215P	False	False	False	False	False	P02545_214_P
P21817	RYR1	1831	G	A	0	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G1832A	False	False	False	False	False	P21817_1831_A
P21817	RYR1	4328	A	D	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A4329D	False	False	False	False	False	P21817_4328_D
P21817	RYR1	4845	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A4846V	False	False	False	False	False	P21817_4845_V
P21817	RYR1	4905	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A4906V	False	False	False	False	False	P21817_4905_V
P21817	RYR1	4633	E	K	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E4634K	False	False	False	False	False	P21817_4633_K
P21817	RYR1	4920	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	F4921S	False	False	False	False	False	P21817_4920_S
P21817	RYR1	4890	G	R	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G4891R	False	False	False	False	False	P21817_4890_R
P21817	RYR1	4896	G	V	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G4897V	False	False	False	False	False	P21817_4896_V
P21817	RYR1	4898	G	E	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G4899E	False	False	False	False	False	P21817_4898_E
P21817	RYR1	4886	H	Y	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	H4887Y	False	False	False	False	False	P21817_4886_Y
P21817	RYR1	2452	I	T	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	I2453T	False	False	False	False	False	P21817_2452_T
P21817	RYR1	3605	L	P	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L3606P	False	False	False	False	False	P21817_3605_P
P21817	RYR1	4813	L	F	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L4814F	False	False	False	False	False	P21817_4813_F
P21817	RYR1	4857	N	D	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	N4858D	False	False	False	False	False	P21817_4857_D
P21817	RYR1	2451	R	W	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2452W	False	False	False	False	False	P21817_2451_W
P21817	RYR1	2453	R	H	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2454H	False	False	False	False	False	P21817_2453_H
P21817	RYR1	2507	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2508C	False	True	False	True	False	P21817_2507_C
P21817	RYR1	4892	R	P	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4893P	False	False	False	False	False	P21817_4892_P
P21817	RYR1	4892	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4893W	False	False	False	False	False	P21817_4892_W
P21817	RYR1	4913	R	G	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4914G	False	False	False	False	False	P21817_4913_G
P21817	RYR1	4913	R	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4914T	False	False	False	False	False	P21817_4913_T
P21817	RYR1	4636	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T4637I	False	False	False	False	False	P21817_4636_I
P21817	RYR1	4919	T	N	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T4920N	False	False	False	False	False	P21817_4919_N
P21817	RYR1	4630	Y	N	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y4631N	False	False	False	False	False	P21817_4630_N
P21817	RYR1	4863	Y	C	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y4864C	False	True	False	True	False	P21817_4863_C
P08574	CYC1	95	W	C	1	ClinVar	no assertion criteria provided	0.018461538461538463	Cytochrome c1, heme protein, mitochondrial (EC 7.1	W96C	False	True	False	True	False	P08574_95_C
P08574	CYC1	214	L	F	1	ClinVar	criteria provided, single submitter	0.018461538461538463	Cytochrome c1, heme protein, mitochondrial (EC 7.1	L215F	False	False	False	False	False	P08574_214_F
Q9BQ52	ELAC2	519	T	I	1	ClinVar	no assertion criteria provided	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	T520I	False	False	False	False	False	Q9BQ52_519_I
Q9BQ52	ELAC2	153	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	F154L	False	False	False	False	False	Q9BQ52_153_L
Q9BQ52	ELAC2	422	L	F	1	ClinVar	no assertion criteria provided	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	L423F	False	False	False	False	False	Q9BQ52_422_F
P12883	MYH7	282	Y	D	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Y283D	False	False	False	False	False	P12883_282_D
Q9NP73	ALG13	106	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	N107S	False	False	False	False	False	Q9NP73_106_S
Q9UKA2	FBXL4	567	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	G568A	False	False	False	True	False	Q9UKA2_567_A
Q9UKA2	FBXL4	481	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	R482W	False	False	False	True	False	Q9UKA2_481_W
Q9UKA2	FBXL4	564	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	D565G	False	False	False	True	False	Q9UKA2_564_G
P09471	GNAO1	278	I	N	1	ClinVar	no assertion criteria provided	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	I279N	False	False	False	False	False	P09471_278_N
P09471	GNAO1	173	D	G	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D174G	False	False	False	False	False	P09471_173_G
P09471	GNAO1	202	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G203R	False	False	False	False	False	P09471_202_R
P17661	DES	337	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	L338R	False	False	False	False	False	P17661_337_R
P17661	DES	341	N	D	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	N342D	False	False	False	False	False	P17661_341_D
P17661	DES	356	A	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	A357P	False	False	False	False	False	P17661_356_P
P17661	DES	369	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	L370P	False	False	False	False	False	P17661_369_P
P17661	DES	398	D	Y	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	D399Y	False	False	False	False	False	P17661_398_Y
P17661	DES	400	E	K	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	E401K	False	False	False	False	False	P17661_400_K
P17661	DES	412	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	E413K	False	False	False	False	False	P17661_412_K
P17661	DES	448	K	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	K449T	False	False	False	False	False	P17661_448_T
P17661	DES	453	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	R454W	False	False	False	False	False	P17661_453_W
P17661	DES	115	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	N116S	False	False	False	False	False	P17661_115_S
P17661	DES	11	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	S12F	True	False	False	False	True	P17661_11_F
P17661	DES	15	R	C	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	R16C	True	True	False	True	True	P17661_15_C
P17661	DES	1	S	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	S2I	True	False	False	False	True	P17661_1_I
P17661	DES	244	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	E245D	False	False	False	False	False	P17661_244_D
P17661	DES	273	L	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	L274P	False	False	False	False	False	P17661_273_P
P02545	LMNA	348	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R349W	False	False	False	False	False	P02545_348_W
P02545	LMNA	376	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R377L	False	False	False	False	False	P02545_376_L
P02545	LMNA	497	W	C	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	W498C	False	True	False	True	False	P02545_497_C
P02545	LMNA	540	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R541S	False	False	False	False	False	P02545_540_S
P02545	LMNA	540	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R541H	False	False	False	False	False	P02545_540_H
P02545	LMNA	540	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R541P	False	False	False	False	False	P02545_540_P
P02545	LMNA	81	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E82K	False	False	False	False	False	P02545_81_K
P02545	LMNA	9	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	T10I	True	False	False	False	True	P02545_9_I
P02545	LMNA	142	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	S143P	False	False	False	False	False	P02545_142_P
P02545	LMNA	165	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R166P	False	False	False	False	False	P02545_165_P
P02545	LMNA	189	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R190W	False	False	False	False	False	P02545_189_W
P02545	LMNA	189	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R190Q	False	False	False	False	False	P02545_189_Q
P02545	LMNA	191	D	V	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	D192V	False	False	False	False	False	P02545_191_V
P02545	LMNA	202	E	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E203V	False	False	False	False	False	P02545_202_V
P02545	LMNA	24	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R25C	True	True	False	True	True	P02545_24_C
P02545	LMNA	248	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R249Q	False	False	False	False	False	P02545_248_Q
P02545	LMNA	258	Y	H	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	Y259H	False	False	False	False	False	P02545_258_H
P02545	LMNA	299	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	D300N	False	False	False	False	False	P02545_299_N
Q5T011	SZT2	498	S	I	1	ClinVar	no assertion criteria provided	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	S499I	False	False	False	False	False	Q5T011_498_I
P51787	KCNQ1	152	T	M	0	ClinVar	reviewed by expert panel	0.013313609467455622	Potassium voltage-gated channel subfamily KQT memb	T153M	False	False	False	False	False	P51787_152_M
Q12809	KCNH2	620	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02070750647109577	Voltage-gated inwardly rectifying potassium channe	S621N	False	False	False	False	False	Q12809_620_N
Q14524	SCN5A	355	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	D356N	False	False	False	False	False	Q14524_355_N
Q14524	SCN5A	460	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	L461V	False	False	False	False	False	Q14524_460_V
Q14524	SCN5A	571	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	A572D	False	False	False	False	False	Q14524_571_D
Q14524	SCN5A	813	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	R814W	False	False	False	False	False	Q14524_813_W
Q14524	SCN5A	813	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	R814Q	False	False	False	False	False	Q14524_813_Q
Q14524	SCN5A	909	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	S910L	False	False	False	False	False	Q14524_909_L
Q14524	SCN5A	120	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	R121W	False	False	False	False	False	Q14524_120_W
Q14524	SCN5A	160	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	Sodium channel protein type 5 subunit alpha (Sodiu	E161K	False	False	False	False	False	Q14524_160_K
O00555	CACNA1A	452	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A453T	False	False	False	False	False	O00555_452_T
O00555	CACNA1A	499	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T500M	False	False	False	False	False	O00555_499_M
O00555	CACNA1A	916	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E917D	False	False	False	False	False	O00555_916_D
O00555	CACNA1A	991	E	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E992V	False	False	False	False	False	O00555_991_V
O00555	CACNA1A	1103	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G1104S	False	False	False	False	False	O00555_1103_S
O00555	CACNA1A	1662	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1663Q	False	False	False	False	False	O00555_1662_Q
O00555	CACNA1A	1665	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1666W	False	False	False	False	False	O00555_1665_W
O00555	CACNA1A	194	R	K	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R195K	False	False	False	False	False	O00555_194_K
O00555	CACNA1A	252	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	H253Y	False	False	False	False	False	O00555_252_Y
P35498	SCN1A	376	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R377Q	False	False	False	False	False	P35498_376_Q
P35498	SCN1A	392	R	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R393S	False	False	False	False	False	P35498_392_S
P35498	SCN1A	392	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R393C	False	True	False	True	False	P35498_392_C
P35498	SCN1A	392	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R393H	False	False	False	False	False	P35498_392_H
P35498	SCN1A	402	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F403L	False	False	False	False	False	P35498_402_L
P35498	SCN1A	811	T	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T812R	False	False	False	False	False	P35498_811_R
P35498	SCN1A	83	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y84C	False	True	False	True	False	P35498_83_C
P35498	SCN1A	941	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L942P	False	False	False	False	False	P35498_941_P
P35498	SCN1A	945	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R946H	False	False	False	False	False	P35498_945_H
P35498	SCN1A	100	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R101W	False	False	False	False	False	P35498_100_W
P35498	SCN1A	100	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R101Q	False	False	False	False	False	P35498_100_Q
P35498	SCN1A	1206	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1207P	False	False	False	False	False	P35498_1206_P
P35498	SCN1A	1232	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1233R	False	False	False	False	False	P35498_1232_R
P35498	SCN1A	1244	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1245Q	False	False	False	False	False	P35498_1244_Q
P35498	SCN1A	1389	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1390M	False	False	False	False	False	P35498_1389_M
P35498	SCN1A	1395	C	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1396G	False	False	True	True	False	P35498_1395_G
P35498	SCN1A	1421	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1422C	False	True	False	True	False	P35498_1421_C
P35498	SCN1A	1450	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1451L	False	False	False	False	False	P35498_1450_L
P35498	SCN1A	1479	G	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1480V	False	False	False	False	False	P35498_1479_V
P35498	SCN1A	1544	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1545V	False	False	False	False	False	P35498_1544_V
P35498	SCN1A	1587	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1588R	False	False	True	True	False	P35498_1587_R
P35498	SCN1A	1595	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1596C	False	True	False	True	False	P35498_1595_C
P35498	SCN1A	1607	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1608Y	False	False	False	False	False	P35498_1607_Y
P35498	SCN1A	1635	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1636Q	False	False	False	False	False	P35498_1635_Q
P35498	SCN1A	1644	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1645Q	False	False	False	False	False	P35498_1644_Q
P35498	SCN1A	1656	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1657H	False	False	False	False	False	P35498_1656_H
P35498	SCN1A	1715	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1716R	False	False	True	True	False	P35498_1715_R
P35498	SCN1A	1772	S	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1773F	False	False	False	False	False	P35498_1772_F
P35498	SCN1A	1779	M	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1780T	False	False	False	False	False	P35498_1779_T
P35498	SCN1A	1782	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1783T	False	False	False	False	False	P35498_1782_T
P35498	SCN1A	1782	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1783V	False	False	False	False	False	P35498_1782_V
P35498	SCN1A	1927	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1928G	False	False	False	False	False	P35498_1927_G
P35498	SCN1A	193	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D194N	False	False	False	False	False	P35498_193_N
P35498	SCN1A	216	T	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T217K	False	False	False	False	False	P35498_216_K
P35498	SCN1A	225	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T226M	False	False	False	False	False	P35498_225_M
P35498	SCN1A	226	I	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I227S	False	False	False	False	False	P35498_226_S
P35498	SCN1A	238	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A239T	False	False	False	False	False	P35498_238_T
P35498	SCN1A	279	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W280R	False	False	False	False	False	P35498_279_R
P35498	SCN1A	321	R	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R322I	False	False	False	False	False	P35498_321_I
P35498	SCN1A	342	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G343D	False	False	False	False	False	P35498_342_D
P35498	SCN1A	387	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y388H	False	False	False	False	False	P35498_387_H
P35498	SCN1A	603	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R604H	False	False	False	False	False	P35498_603_H
P35498	SCN1A	789	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y790C	False	True	False	True	False	P35498_789_C
P35498	SCN1A-AS1;SCN1A	858	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R859C	False	True	False	True	False	P35498_858_C
P35498	SCN1A	90	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I91T	False	False	False	False	False	P35498_90_T
P35498	SCN1A	930	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R931C	False	True	False	True	False	P35498_930_C
P35498	SCN1A	943	V	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V944A	False	False	False	False	False	P35498_943_A
P35498	SCN1A	945	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R946C	False	True	False	True	False	P35498_945_C
P35498	SCN1A	953	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E954K	False	False	False	False	False	P35498_953_K
P35498	SCN1A	958	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C959R	False	False	True	True	False	P35498_958_R
P35498	SCN1A	1033	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1034T	False	False	False	False	False	P35498_1033_T
P35498	SCN1A	111	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T112I	False	False	False	False	False	P35498_111_I
P35498	SCN1A	1286	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1287P	False	False	False	False	False	P35498_1286_P
P35498	SCN1A	1432	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1433E	False	False	False	False	False	P35498_1432_E
P35498	SCN1A	1433	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1434R	False	False	False	False	False	P35498_1433_R
P35498	SCN1A	1585	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1586E	False	False	False	False	False	P35498_1585_E
P35498	SCN1A	1647	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1648C	False	True	False	True	False	P35498_1647_C
P35498	SCN1A	1656	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1657C	False	True	False	True	False	P35498_1656_C
P35498	SCN1A	1657	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1658M	False	False	False	False	False	P35498_1657_M
P35498	SCN1A	1684	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1685V	False	False	False	False	False	P35498_1684_V
P35498	SCN1A	1691	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1692S	False	False	False	False	False	P35498_1691_S
P35498	SCN1A	174	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A175T	False	False	False	False	False	P35498_174_T
P35498	SCN1A	1780	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1781C	False	True	False	True	False	P35498_1780_C
P35498	SCN1A	176	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G177E	False	False	False	False	False	P35498_176_E
P35498	SCN1A	1851	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1852T	False	False	False	False	False	P35498_1851_T
P35498	SCN1A	189	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W190R	False	False	False	False	False	P35498_189_R
P35498	SCN1A	1908	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1909I	False	False	False	False	False	P35498_1908_I
P35498	SCN1A	251	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I252N	False	False	False	False	False	P35498_251_N
Q15049	MLC1	83	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	R84C	False	True	False	True	False	Q15049_83_C
Q15049	MLC1	211	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G212R	False	False	False	False	False	Q15049_211_R
Q15049	MLC1	245	S	R	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	S246R	False	False	False	False	False	Q15049_245_R
Q15049	MLC1	319	T	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	T320K	False	False	False	False	False	Q15049_319_K
Q96MF2	STAC3	283	W	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019230769230769232	SH3 and cysteine-rich domain-containing protein 3	W284S	False	False	False	False	False	Q96MF2_283_S
O43426	SYNJ1	218	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	R219Q	False	False	False	False	False	O43426_218_Q
Q9ULP9	TBC1D24	241	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R242C	False	True	False	True	False	Q9ULP9_241_C
Q9ULP9	TBC1D24	39	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R40C	True	True	False	True	True	Q9ULP9_39_C
P08243	ASNS	361	F	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	F362V	False	False	False	False	False	P08243_361_V
P08243	ASNS	549	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R550C	False	True	False	True	False	P08243_549_C
P08243	ASNS	5	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	A6E	True	False	False	False	True	P08243_5_E
Q9UJS0	SLC25A13	354	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	R355Q	False	False	False	False	False	Q9UJS0_354_Q
Q16585	SGCB	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-asso	M1V	True	False	False	False	True	Q16585_0_V
Q13496	MTM1	229	W	R	1	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	W230R	False	False	False	False	False	Q13496_229_R
P05165	PCCA	474	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	I475V	False	False	False	False	False	P05165_474_V
P05166	PCCB	0	M	K	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	M1K	True	False	False	False	True	P05166_0_K
P05166	PCCB	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	M1I	True	False	False	False	True	P05166_0_I
P21817	RYR1	3646	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	H3647Q	False	False	False	False	False	P21817_3646_Q
P21817	RYR1	4504	D	H	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D4505H	False	False	False	False	False	P21817_4504_H
P21817	RYR1	1341	S	G	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	S1342G	False	False	False	False	False	P21817_1341_G
P21817	RYR1	1392	K	R	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	K1393R	False	False	False	False	False	P21817_1392_R
P21817	RYR1	1877	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E1878D	False	False	False	False	False	P21817_1877_D
P21817	RYR1	2059	G	C	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G2060C	False	True	False	True	False	P21817_2059_C
P21817	RYR1	2942	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D2943N	False	False	False	False	False	P21817_2942_N
Q13936	CACNA1C	816	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01981089599279604	Voltage-dependent L-type calcium channel subunit a	P817S	False	False	False	False	False	Q13936_816_S
O75072	FKTN	202	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	R203Q	False	False	False	False	False	O75072_202_Q
P68133	ACTA1	44	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V45F	True	False	False	False	True	P68133_44_F
P68133	ACTA1	147	G	S	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G148S	False	False	False	False	False	P68133_147_S
P35498	SCN1A	858	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R859H	False	False	False	False	False	P35498_858_H
P35498	SCN1A	1954	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1955T	False	False	False	False	False	P35498_1954_T
P35498	SCN1A	27	R	H	0	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R28H	True	False	False	False	True	P35498_27_H
Q8TAB3	PCDH19	1078	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P1079A	False	False	False	False	False	Q8TAB3_1078_A
Q8TAB3	PCDH19	1106	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	R1107G	False	False	False	False	False	Q8TAB3_1106_G
Q8TAB3	PCDH19	124	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N125S	False	False	False	False	False	Q8TAB3_124_S
P12109	COL6A1	438	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	R439Q	False	False	False	False	False	P12109_438_Q
P12109	COL6A1	680	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	I681T	False	False	False	False	False	P12109_680_T
P12109	COL6A1	782	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	R783Q	False	False	False	False	False	P12109_782_Q
P12109	COL6A1	807	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	Q808H	False	False	False	False	False	P12109_807_H
P12109	COL6A1	813	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	K814R	False	False	False	False	False	P12109_813_R
P12109	COL6A1	849	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	R850H	False	False	False	False	False	P12109_849_H
P12109	COL6A1	880	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	T881M	False	False	False	False	False	P12109_880_M
P12109	COL6A1	889	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	S890L	False	False	False	False	False	P12109_889_L
P12109	COL6A1	927	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	R928H	False	False	False	False	False	P12109_927_H
P12109	COL6A1	115	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	S116N	False	False	False	False	False	P12109_115_N
P12109	COL6A1	292	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G293R	False	False	False	False	False	P12109_292_R
P12109	COL6A1	298	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G299E	False	False	False	False	False	P12109_298_E
P12110	COL6A2	398	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	S399N	False	False	False	False	False	P12110_398_N
P12110	COL6A2	517	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	P518S	False	False	False	False	False	P12110_517_S
P12110	COL6A2	589	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	T590M	False	False	False	False	False	P12110_589_M
P12110	COL6A2	679	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R680H	False	False	False	False	False	P12110_679_H
P12110	COL6A2	783	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R784H	False	False	False	False	False	P12110_783_H
P12110	COL6A2;FTCD	934	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G935R	False	False	False	False	False	P12110_934_R
P12110	COL6A2	994	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	A995T	False	False	False	False	False	P12110_994_T
P12110	COL6A2;FTCD	1014	I	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	I1015L	False	False	False	False	False	P12110_1014_L
P12110	COL6A2	105	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	E106K	False	False	False	False	False	P12110_105_K
P12110	COL6A2	166	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G167S	False	False	False	False	False	P12110_166_S
P12110	COL6A2	226	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	D227N	False	False	False	False	False	P12110_226_N
P12110	COL6A2	277	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	E278K	False	False	False	False	False	P12110_277_K
O76039	CDKL5	733	T	A	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T734A	False	False	False	False	False	O76039_733_A
O76039	CDKL5	177	R	Q	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R178Q	False	False	False	False	False	O76039_177_Q
O75923	DYSF	851	I	V	0	ClinVar	reviewed by expert panel	0.017788461538461538	Dysferlin (Dystrophy-associated fer-1-like protein	I852V	False	False	False	False	False	O75923_851_V
O75923	DYSF	1875	D	N	1	ClinVar	reviewed by expert panel	0.017788461538461538	Dysferlin (Dystrophy-associated fer-1-like protein	D1876N	False	False	False	False	False	O75923_1875_N
P11532	DMD	408	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T409S	False	False	False	False	False	P11532_408_S
P11532	DMD	504	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V505L	False	False	False	False	False	P11532_504_L
P11532	DMD	517	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	D518E	False	False	False	False	False	P11532_517_E
P11532	DMD	714	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T715S	False	False	False	False	False	P11532_714_S
P11532	DMD	724	D	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	D725Y	False	False	False	False	False	P11532_724_Y
P11532	DMD	795	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V796I	False	False	False	False	False	P11532_795_I
P11532	DMD	796	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	N797K	False	False	False	False	False	P11532_796_K
P11532	DMD	868	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	Q869H	False	False	False	False	False	P11532_868_H
P11532	DMD	947	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	M948V	False	False	False	False	False	P11532_947_V
P11532	DMD	1135	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T1136S	False	False	False	False	False	P11532_1135_S
P11532	DMD	1244	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T1245I	False	False	False	False	False	P11532_1244_I
P11532	DMD	1323	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R1324C	False	True	False	True	False	P11532_1323_C
P11532	DMD	1387	F	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	F1388V	False	False	False	False	False	P11532_1387_V
P11532	DMD	1509	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	K1510R	False	False	False	False	False	P11532_1509_R
P11532	DMD	1671	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	N1672K	False	False	False	False	False	P11532_1671_K
P11532	DMD	1744	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R1745H	False	False	False	False	False	P11532_1744_H
P11532	DMD	1873	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	E1874K	False	False	False	False	False	P11532_1873_K
P11532	DMD	2107	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2108C	False	True	False	True	False	P11532_2107_C
P11532	DMD	2154	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2155W	False	False	False	False	False	P11532_2154_W
P11532	DMD	2383	S	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	S2384Y	False	False	False	False	False	P11532_2383_Y
P11532	DMD	2789	R	W	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	R2790W	False	False	False	False	False	P11532_2789_W
P11532	DMD	3227	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	F3228L	False	False	False	False	False	P11532_3227_L
P12111	COL6A3	341	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	V342M	False	False	False	False	False	P12111_341_M
P12111	COL6A3	410	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	L411V	False	False	False	False	False	P12111_410_V
P12111	COL6A3	490	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	D491H	False	False	False	False	False	P12111_490_H
P12111	COL6A3	491	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	T492S	False	False	False	False	False	P12111_491_S
P12111	COL6A3	562	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	D563G	False	False	False	False	False	P12111_562_G
P12111	COL6A3	595	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A596S	False	False	False	False	False	P12111_595_S
P12111	COL6A3	658	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R659H	False	False	False	False	False	P12111_658_H
P12111	COL6A3	806	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A807T	False	False	False	False	False	P12111_806_T
P12111	COL6A3	829	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A830S	False	False	False	False	False	P12111_829_S
P12111	COL6A3	1029	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	V1030M	False	False	False	False	False	P12111_1029_M
P12111	COL6A3	1063	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R1064Q	False	False	False	False	False	P12111_1063_Q
P12111	COL6A3	1087	K	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	K1088Q	False	False	False	False	False	P12111_1087_Q
P12111	COL6A3	1363	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	V1364M	False	False	False	False	False	P12111_1363_M
P12111	COL6A3	1575	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R1576Q	False	False	False	False	False	P12111_1575_Q
P12111	COL6A3	1631	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R1632Q	False	False	False	False	False	P12111_1631_Q
P12111	COL6A3	1686	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	P1687S	False	False	False	False	False	P12111_1686_S
P12111	COL6A3	1753	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	K1754R	False	False	False	False	False	P12111_1753_R
P12111	COL6A3	2217	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	P2218L	False	False	False	False	False	P12111_2217_L
P12111	COL6A3	2548	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R2549W	False	False	False	False	False	P12111_2548_W
P12111	COL6A3	2830	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	D2831H	False	False	False	False	False	P12111_2830_H
P12111	COL6A3	2926	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	M2927T	False	False	False	False	False	P12111_2926_T
P12111	COL6A3	2940	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A2941V	False	False	False	False	False	P12111_2940_V
P12111	COL6A3	2987	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	M2988V	False	False	False	False	False	P12111_2987_V
P12111	COL6A3	3011	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A3012P	False	False	False	False	False	P12111_3011_P
P12111	COL6A3	3068	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	T3069I	False	False	False	False	False	P12111_3068_I
P20929	NEB	3602	W	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	W3603C	False	True	False	True	False	P20929_3602_C
P20929	NEB	6101	R	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	R6102T	False	False	False	False	False	P20929_6101_T
P20929	NEB	8144	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	A8145P	False	False	False	False	False	P20929_8144_P
P20929	NEB	8401	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I8402V	False	False	False	False	False	P20929_8401_V
P20929	NEB	1026	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K1027N	False	False	False	False	False	P20929_1026_N
P20929	NEB	1063	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	Y1064C	False	True	False	True	False	P20929_1063_C
P20929	NEB	1490	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	V1491M	False	False	False	False	False	P20929_1490_M
P20929	NEB	2022	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	M2023I	False	False	False	False	False	P20929_2022_I
P20929	NEB	2436	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	R2437Q	False	False	False	False	False	P20929_2436_Q
P20929	NEB	2504	A	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	A2505E	False	False	False	False	False	P20929_2504_E
P20929	NEB	2612	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K2613N	False	False	False	False	False	P20929_2612_N
P51608	MECP2	387	P	S	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P388S	False	False	False	False	False	P51608_387_S
Q9UBF9	MYOT	114	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	A115T	False	False	False	False	False	Q9UBF9_114_T
Q9UBF9	MYOT	148	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	E149Q	False	False	False	False	False	Q9UBF9_148_Q
Q9UBF9	MYOT	205	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	G206D	False	False	False	False	False	Q9UBF9_205_D
Q96T60	PNKP	179	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	R180S	False	False	False	False	False	Q96T60_179_S
Q96T60	PNKP	19	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	P20S	True	False	False	False	True	Q96T60_19_S
O60313	OPA1	14	Q	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	Q15K	True	False	False	False	True	O60313_14_K
O60313	OPA1	157	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	S158N	False	False	False	False	False	O60313_157_N
Q9UBY8	CLN8	228	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024475524475524476	Protein CLN8	P229A	False	False	False	False	False	Q9UBY8_228_A
Q9H9S5	FKRP	173	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01616161616161616	Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) 	S174C	False	True	False	True	False	Q9H9S5_173_C
Q75V66	ANO5	321	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014238773274917854	Anoctamin-5 (Gnathodiaphyseal dysplasia 1 protein)	L322F	False	False	False	False	False	Q75V66_321_F
P11166	SLC2A1	457	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R458W	False	False	False	False	False	P11166_457_W
P49810	PSEN2	61	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020089285714285716	Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E	R62H	False	False	False	False	False	P49810_61_H
P49768	PSEN1	230	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010706638115631691	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [	A231T	False	False	False	False	False	P49768_230_T
P49768	PSEN1	317	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010706638115631691	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [	E318G	False	False	False	False	False	P49768_317_G
Q13224	GRIN2B	1413	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1414S	False	False	False	False	False	Q13224_1413_S
Q13224	GRIN2B	4	A	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A5V	True	False	False	False	True	Q13224_4_V
O15537	RS1	212	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.044642857142857144	Retinoschisin (X-linked juvenile retinoschisis pro	R213W	False	False	False	True	False	O15537_212_W
O43186	CRX	121	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010033444816053512	Cone-rod homeobox protein	G122D	False	False	False	False	False	O43186_121_D
P51788	CLCN2	499	A	V	1	ClinVar	no assertion criteria provided	0.01893095768374165	Chloride channel protein 2 (ClC-2)	A500V	False	False	False	False	False	P51788_499_V
Q9NZC7	WWOX	371	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	G372R	False	False	False	False	False	Q9NZC7_371_R
Q05639	EEF1A2	69	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	G70S	False	False	False	False	False	Q05639_69_S
Q8NCM2	KCNH5	326	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R327H	False	False	False	False	False	Q8NCM2_326_H
Q9Y2Z4	YARS2	45	G	D	1	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	G46D	True	False	False	False	True	Q9Y2Z4_45_D
Q9Y2Z4	YARS2	190	G	D	1	ClinVar	no assertion criteria provided	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	G191D	False	False	False	False	False	Q9Y2Z4_190_D
Q9Y2Z4	YARS2	434	S	G	1	ClinVar	no assertion criteria provided	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	S435G	False	False	False	False	False	Q9Y2Z4_434_G
O43526	KCNQ2	264	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A265V	False	False	False	False	False	O43526_264_V
O75880	SCO1	131	G	S	1	ClinVar	no assertion criteria provided	0.013289036544850499	Protein SCO1 homolog, mitochondrial	G132S	False	False	False	False	False	O75880_131_S
P04049	RAF1	260	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	P261L	False	False	False	False	False	P04049_260_L
Q9H936	SLC25A22	109	G	R	1	ClinVar	no assertion criteria provided	0.02476780185758514	Mitochondrial glutamate carrier 1 (GC-1) (Glutamat	G110R	False	False	False	False	False	Q9H936_109_R
P07333	CSF1R	780	A	E	1	ClinVar	no assertion criteria provided	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A781E	False	False	False	False	False	P07333_780_E
P0DJ07	PET100	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Protein PET100 homolog, mitochondrial	M1I	True	False	False	False	True	P0DJ07_0_I
P10589	NR2F1	114	R	P	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R115P	False	False	False	True	False	P10589_114_P
P10589	NR2F1	112	S	R	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	S113R	False	False	False	True	False	P10589_112_R
P10589	NR2F1	251	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	L252P	False	False	False	True	False	P10589_251_P
P10589	NR2F1	111	R	K	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R112K	False	False	False	True	False	P10589_111_K
Q9Y276	BCS1L	300	Y	N	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	Y301N	False	False	False	False	False	Q9Y276_300_N
P14867	GABRA1	250	G	S	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	G251S	False	False	False	False	False	P14867_250_S
P14867	GABRA1	305	K	T	1	ClinVar	no assertion criteria provided	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	K306T	False	False	False	False	False	P14867_305_T
P61764	STXBP1	282	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	E283K	False	False	False	False	False	P61764_282_K
P68133	ACTA1	357	W	C	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	W358C	False	True	False	True	False	P68133_357_C
P68133	ACTA1	137	I	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I138N	False	False	False	False	False	P68133_137_N
P68133	ACTA1	171	A	E	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A172E	False	False	False	False	False	P68133_171_E
Q15052	ARHGEF6	120	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028350515463917526	Rho guanine nucleotide exchange factor 6 (Alpha-Pi	R121H	False	False	False	False	False	Q15052_120_H
O00555	CACNA1A	730	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E731A	False	False	False	False	False	O00555_730_A
O00555	CACNA1A	912	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P913S	False	False	False	False	False	O00555_912_S
O00555	CACNA1A	1009	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1010A	False	False	False	False	False	O00555_1009_A
A2IDD5	CCDC78	237	K	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	K238Q	False	False	False	False	False	A2IDD5_237_Q
A2IDD5	CCDC78	251	W	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	W252R	False	False	False	False	False	A2IDD5_251_R
A2IDD5	CCDC78	267	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	T268M	False	False	False	False	False	A2IDD5_267_M
Q12860	CNTN1	774	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	S775N	False	False	False	False	False	Q12860_774_N
P12110	COL6A2;FTCD	993	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	A994T	False	False	False	False	False	P12110_993_T
P12111	COL6A3	2642	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A2643V	False	False	False	False	False	P12111_2642_V
P12111	COL6A3	2857	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	V2858I	False	False	False	False	False	P12111_2857_I
Q96H96	COQ2	15	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	V16L	True	False	False	False	True	Q96H96_15_L
Q9Y2Z9	COQ6	338	D	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	D339V	False	False	False	False	False	Q9Y2Z9_338_V
Q9H9S5	FKRP	142	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01616161616161616	Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) 	R143S	False	False	False	False	False	Q9H9S5_142_S
Q14315	FLNC	833	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T834M	False	False	False	False	False	Q14315_833_M
Q14315	FLNC	1252	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V1253I	False	False	False	False	False	Q14315_1252_I
Q14315	FLNC	1566	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1567Q	False	False	False	False	False	Q14315_1566_Q
C9JR72	KBTBD13	80	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	A81V	False	False	False	True	False	C9JR72_80_V
C9JR72	KBTBD13	264	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	G265D	False	False	False	True	False	C9JR72_264_D
O43526	KCNQ2	449	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V450M	False	False	False	False	False	O43526_449_M
O43526	KCNQ2	754	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y755C	False	True	False	True	False	O43526_754_C
O43526	KCNQ2	870	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R871S	False	False	False	False	False	O43526_870_S
Q9UBF9	MYOT	49	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	Q50R	True	False	False	False	True	Q9UBF9_49_R
Q16795	NDUFA9	293	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	P294L	False	False	False	False	False	Q16795_293_L
Q9Y375	NDUFAF1	8	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	R9H	True	False	False	False	True	Q9Y375_8_H
Q9Y375	NDUFAF1	30	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	R31L	True	False	False	False	True	Q9Y375_30_L
Q9Y375	NDUFAF1	313	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	A314G	False	False	False	False	False	Q9Y375_313_G
O75306	NDUFS2	351	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	P352A	False	False	False	False	False	O75306_351_A
O75251	NDUFS7	22	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	P23L	True	False	False	False	True	O75251_22_L
P20929	NEB	3715	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	M3716I	False	False	False	False	False	P20929_3715_I
P20929	NEB	3909	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D3910G	False	False	False	False	False	P20929_3909_G
P20929	NEB	5587	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	S5588T	False	False	False	False	False	P20929_5587_T
P20929	NEB	6037	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	N6038S	False	False	False	False	False	P20929_6037_S
P20929	NEB	6692	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	T6693I	False	False	False	False	False	P20929_6692_I
P20929	NEB	6730	D	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D6731V	False	False	False	False	False	P20929_6730_V
P20929	NEB	7014	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	S7015C	False	True	False	True	False	P20929_7014_C
P20929	NEB	7285	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D7286N	False	False	False	False	False	P20929_7285_N
P20929	NEB	7793	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	S7794L	False	False	False	False	False	P20929_7793_L
P20929	NEB	7831	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	T7832I	False	False	False	False	False	P20929_7831_I
P20929	NEB	1137	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	N1138D	False	False	False	False	False	P20929_1137_D
P20929	NEB	1468	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	E1469D	False	False	False	False	False	P20929_1468_D
P20929	NEB	1478	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	V1479I	False	False	False	False	False	P20929_1478_I
P20929	NEB	1700	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	V1701A	False	False	False	False	False	P20929_1700_A
P20929	NEB	1855	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	R1856Q	False	False	False	False	False	P20929_1855_Q
P20929	NEB	1990	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	H1991Y	False	False	False	False	False	P20929_1990_Y
P20929	NEB	2238	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I2239M	False	False	False	False	False	P20929_2238_M
P20929	NEB	2729	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D2730G	False	False	False	False	False	P20929_2729_G
P20929	NEB	2772	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	R2773Q	False	False	False	False	False	P20929_2772_Q
P20929	NEB	2911	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	S2912P	False	False	False	False	False	P20929_2911_P
Q9NQ66	PLCB1	152	E	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012335526315789474	1-phosphatidylinositol 4,5-bisphosphate phosphodie	E153V	False	False	False	False	False	Q9NQ66_152_V
P54098	POLG	42	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Q43R	True	False	False	False	True	P54098_42_R
Q5T160	RARS2	51	K	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	K52I	False	False	False	False	False	Q5T160_51_I
Q5T160	RARS2	234	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	V235M	False	False	False	False	False	Q5T160_234_M
Q5T160	RARS2	290	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	K291R	False	False	False	False	False	Q5T160_290_R
Q5T160	RARS2	330	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	I331V	False	False	False	False	False	Q5T160_330_V
Q99250	SCN2A	907	K	R	0	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K908R	False	False	False	False	False	Q99250_907_R
Q99250	SCN2A	18	R	K	0	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R19K	True	False	False	False	True	Q99250_18_K
Q9UQD0	SCN8A	1591	V	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1592L	False	False	False	False	False	Q9UQD0_1591_L
P31040	SDHA	656	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	V657I	False	False	False	False	False	P31040_656_I
P53985	SLC16A1	489	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024	Monocarboxylate transporter 1 (MCT 1) (Solute carr	D490E	False	False	False	False	False	P53985_489_E
Q9UQ90	SPG7	502	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	T503A	False	False	False	False	False	Q9UQ90_502_A
Q9UQ90	SPG7	687	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	R688Q	False	False	False	False	False	Q9UQ90_687_Q
Q9BUB7	TMEM70	33	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	A34P	True	False	False	False	True	Q9BUB7_33_P
Q9BUB7	TMEM70	115	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	L116V	False	False	False	False	False	Q9BUB7_115_V
Q9BUB7	TMEM70	249	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	T250A	False	False	False	False	False	Q9BUB7_249_A
Q9BUB7	TMEM70	258	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	D259E	False	False	False	False	False	Q9BUB7_258_E
P23786	CPT2	150	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	R151Q	False	False	False	False	False	P23786_150_Q
Q7LG56	RRM2B	40	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	R41W	True	False	False	False	True	Q7LG56_40_W
Q7LG56	RRM2B	109	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	R110C	False	True	False	True	False	Q7LG56_109_C
Q7LG56	RRM2B	223	I	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	I224S	False	False	False	False	False	Q7LG56_223_S
Q7LG56	RRM2B	281	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	M282I	False	False	False	False	False	Q7LG56_281_I
Q9P0J0	NDUFA13	56	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R57H	False	False	False	False	False	Q9P0J0_56_H
P63267	ACTG2	147	R	S	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R148S	False	False	False	False	False	P63267_147_S
P63267	ACTG2	177	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R178L	False	False	False	False	False	P63267_177_L
P63267	ACTG2	39	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R40C	True	True	False	True	True	P63267_39_C
P63267	ACTG2	177	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R178C	False	True	False	True	False	P63267_177_C
P63267	ACTG2	177	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R178H	False	False	False	False	False	P63267_177_H
P63267	ACTG2	39	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R40H	True	False	False	False	True	P63267_39_H
P63267	ACTG2	256	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R257C	False	True	False	True	False	P63267_256_C
P63267	ACTG2	133	Y	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	Y134N	False	False	False	False	False	P63267_133_N
Q13586	STIM1	303	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0072992700729927005	Stromal interaction molecule 1	R304W	False	False	False	False	False	Q13586_303_W
P12883	MYH7	895	D	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D896N	False	False	False	False	False	P12883_895_N
P12883	MYH7	724	L	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L725P	False	False	False	False	False	P12883_724_P
P12883	MYH7	683	M	R	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M684R	False	False	False	False	False	P12883_683_R
P12883	MYH7	524	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E525K	False	False	False	False	False	P12883_524_K
P12883	MYH7	509	F	L	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F510L	False	False	False	False	False	P12883_509_L
P12883	MYH7	422	A	T	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A423T	False	False	False	False	False	P12883_422_T
P12883	MYH7	383	S	Y	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S384Y	False	False	False	False	False	P12883_383_Y
P12883	MYH7	366	K	N	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K367N	False	False	False	False	False	P12883_366_N
P12883	MYH7	361	M	L	0	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M362L	False	False	False	False	False	P12883_361_L
P12883	MYH7	357	H	L	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	H358L	False	False	False	False	False	P12883_357_L
P21817	RYR1	3365	R	H	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R3366H	False	False	False	False	False	P21817_3365_H
P21817	RYR1	3538	R	H	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R3539H	False	False	False	False	False	P21817_3538_H
P21817	RYR1	3582	E	Q	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E3583Q	False	False	False	False	False	P21817_3582_Q
P21817	RYR1	3755	Q	E	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Q3756E	False	False	False	False	False	P21817_3755_E
P21817	RYR1	3771	R	Q	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R3772Q	False	False	False	False	False	P21817_3771_Q
P21817	RYR1	3902	R	Q	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R3903Q	False	False	False	False	False	P21817_3902_Q
P21817	RYR1	400	R	H	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R401H	False	False	False	False	False	P21817_400_H
P21817	RYR1	4135	R	S	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4136S	False	False	False	False	False	P21817_4135_S
P21817	RYR1	4294	A	V	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A4295V	False	False	False	False	False	P21817_4294_V
P21817	RYR1	43	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R44C	True	True	False	True	True	P21817_43_C
P21817	RYR1	4736	R	W	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4737W	False	False	False	False	False	P21817_4736_W
P21817	RYR1	4736	R	Q	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4737Q	False	False	False	False	False	P21817_4736_Q
P21817	RYR1	4881	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T4882M	False	False	False	False	False	P21817_4881_M
P21817	RYR1	4972	P	L	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	P4973L	False	False	False	False	False	P21817_4972_L
P21817	RYR1	529	R	H	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R530H	False	False	False	False	False	P21817_529_H
P21817	RYR1	532	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R533C	False	True	False	True	False	P21817_532_C
P21817	RYR1	551	R	W	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R552W	False	False	False	False	False	P21817_551_W
P21817	RYR1	613	R	L	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R614L	False	False	False	False	False	P21817_613_L
P21817	RYR1	1727	S	F	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	S1728F	False	False	False	False	False	P21817_1727_F
P21817	RYR1	1786	P	L	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	P1787L	False	False	False	False	False	P21817_1786_L
P21817	RYR1	2199	A	V	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A2200V	False	False	False	False	False	P21817_2199_V
P21817	RYR1	2279	V	I	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	V2280I	False	False	False	False	False	P21817_2279_I
P21817	RYR1	2320	I	V	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	I2321V	False	False	False	False	False	P21817_2320_V
P21817	RYR1	2335	R	H	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2336H	False	False	False	False	False	P21817_2335_H
P21817	RYR1	2341	N	S	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	N2342S	False	False	False	False	False	P21817_2341_S
P21817	RYR1	2354	R	W	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2355W	False	False	False	False	False	P21817_2354_W
P21817	RYR1	2427	A	T	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A2428T	False	False	False	False	False	P21817_2427_T
P21817	RYR1	2430	D	N	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D2431N	False	False	False	False	False	P21817_2430_N
P21817	RYR1	2430	D	Y	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D2431Y	False	False	False	False	False	P21817_2430_Y
P21817	RYR1	2453	R	C	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2454C	False	True	False	True	False	P21817_2453_C
P21817	RYR1	2549	L	V	0	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L2550V	False	False	False	False	False	P21817_2549_V
Q9ULP9	TBC1D24	177	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	S178L	False	False	False	True	False	Q9ULP9_177_L
P50570	DNM2	262	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	P263L	False	False	False	False	False	P50570_262_L
O15287	FANCG;VCP	213	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02572347266881029	Fanconi anemia group G protein (Protein FACG) (DNA	R214C	False	True	False	True	False	O15287_213_C
O15287	FANCG;VCP	296	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02572347266881029	Fanconi anemia group G protein (Protein FACG) (DNA	T297I	False	False	False	False	False	O15287_296_I
O15287	FANCG;VCP	377	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02572347266881029	Fanconi anemia group G protein (Protein FACG) (DNA	S378L	False	False	False	False	False	O15287_377_L
P21912	SDHB	56	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	H57R	False	False	False	True	False	P21912_56_R
Q99643	SDHC	49	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	R50C	True	True	False	True	True	Q99643_49_C
Q9UQD0	SCN8A	849	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R850Q	False	False	False	False	False	Q9UQD0_849_Q
Q16854	DGUOK	95	L	P	1	ClinVar	no assertion criteria provided	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	L96P	False	False	False	False	False	Q16854_95_P
Q5U5X0	LYRM7	24	D	N	1	ClinVar	no assertion criteria provided	0.009615384615384616	Complex III assembly factor LYRM7 (LYR motif-conta	D25N	True	False	False	False	True	Q5U5X0_24_N
Q5JTZ9	AARS2	677	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R678Q	False	False	False	False	False	Q5JTZ9_677_Q
Q5JTZ9	AARS2	729	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	V730M	False	False	False	False	False	Q5JTZ9_729_M
Q5JTZ9	AARS2	808	L	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	L809Q	False	False	False	False	False	Q5JTZ9_808_Q
Q5JTZ9	AARS2	813	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	V814M	False	False	False	False	False	Q5JTZ9_813_M
Q5JTZ9	AARS2	849	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	M850V	False	False	False	False	False	Q5JTZ9_849_V
Q5JTZ9	AARS2	876	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R877W	False	False	False	False	False	Q5JTZ9_876_W
Q5JTZ9	AARS2	286	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	D287E	False	False	False	False	False	Q5JTZ9_286_E
Q5JTZ9	AARS2	398	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	N399S	False	False	False	False	False	Q5JTZ9_398_S
Q5JTZ9	AARS2	470	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R471Q	False	False	False	False	False	Q5JTZ9_470_Q
Q9H845	ACAD9	325	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A326T	False	False	False	False	False	Q9H845_325_T
Q9H845	ACAD9	329	K	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	K330Q	False	False	False	False	False	Q9H845_329_Q
Q9H845	ACAD9	476	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R477Q	False	False	False	False	False	Q9H845_476_Q
Q8NI60	COQ8A	84	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	H85Q	False	False	False	False	False	Q8NI60_84_Q
O95831	AIFM1	34	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P35S	True	False	False	False	True	O95831_34_S
Q8N5M1	ATPAF2	170	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	ATP synthase mitochondrial F1 complex assembly fac	V171M	False	False	False	False	False	Q8N5M1_170_M
Q8N5M1	ATPAF2	11	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	ATP synthase mitochondrial F1 complex assembly fac	G12E	True	False	False	False	True	Q8N5M1_11_E
O95817	BAG3	8	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	M9V	True	False	False	False	True	O95817_8_V
Q9Y276	BCS1L	209	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	D210N	False	False	False	False	False	Q9Y276_209_N
Q96RR1	TWNK	367	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	V368I	False	False	False	False	False	Q96RR1_367_I
Q330K2	NDUFAF6	279	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	V280I	False	False	False	False	False	Q330K2_279_I
O76039	CDKL5	790	Q	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Q791P	False	False	False	False	False	O76039_790_P
Q96H96	COQ2	141	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	T142A	False	False	False	False	False	Q96H96_141_A
Q96H96	COQ2	145	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	N146S	False	False	False	False	False	Q96H96_145_S
O75208	COQ9	208	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	L209V	False	False	False	False	False	O75208_208_V
O75208	COQ9	287	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	K288N	False	False	False	False	False	O75208_287_N
Q12887	COX10	27	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	T28I	True	False	False	False	True	Q12887_27_I
Q12887	COX10	61	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	T62S	False	False	False	False	False	Q12887_61_S
Q12887	COX10	96	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	Y97C	False	True	False	True	False	Q12887_96_C
Q12887	COX10	158	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	R159Q	False	False	False	False	False	Q12887_158_Q
Q7KZN9	COX15	182	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014634146341463415	Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytoch	R183H	False	False	False	False	False	Q7KZN9_182_H
Q5RI15	COX20	117	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	N118S	False	False	False	True	False	Q5RI15_117_S
P23786	CPT2	100	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	A101V	False	False	False	False	False	P23786_100_V
Q6PI48	DARS2	547	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	L548M	False	False	False	False	False	Q6PI48_547_M
Q16854	DGUOK	169	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	Q170R	False	False	False	False	False	Q16854_169_R
P09622	DLD	11	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	A12T	True	False	False	False	True	P09622_11_T
P11532	DMD	12	R	K	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	R13K	True	False	False	False	True	P11532_12_K
P50570	DNM2	79	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	H80Y	False	False	False	False	False	P50570_79_Y
P15924	DSP	1529	V	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V1530F	False	False	False	False	False	P15924_1529_F
P15924	DSP	2868	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I2869V	False	False	False	False	False	P15924_2868_V
Q5JPH6	EARS2	456	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	S457G	False	False	False	False	False	Q5JPH6_456_G
Q5JPH6	EARS2	470	K	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	K471T	False	False	False	False	False	Q5JPH6_470_T
Q5JPH6	EARS2	5	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	R6G	True	False	False	False	True	Q5JPH6_5_G
O95571	ETHE1	20	A	S	0	ClinVar	reviewed by expert panel	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	A21S	True	False	False	True	True	O95571_20_S
O95363	FARS2	245	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	T246M	False	False	False	False	False	O95363_245_M
O95363	FARS2	279	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	N280S	False	False	False	False	False	O95363_279_S
Q96RP9	GFM1	42	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	N43D	True	False	False	False	True	Q96RP9_42_D
Q96RP9	GFM1	158	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	N159S	False	False	False	False	False	Q96RP9_158_S
Q96RP9	GFM1	189	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	M190L	False	False	False	False	False	Q96RP9_189_L
Q96RP9	GFM1	663	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	V664I	False	False	False	False	False	Q96RP9_663_I
Q9Y3Q4	HCN4	882	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	P883R	False	False	False	False	False	Q9Y3Q4_882_R
Q9Y3Q4	HCN4	1112	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	M1113V	False	False	False	False	False	Q9Y3Q4_1112_V
P10809	HSPD1	562	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	G563A	False	False	False	False	False	P10809_562_A
Q9BR39	JPH2	395	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	A396T	False	False	False	False	False	Q9BR39_395_T
Q9H061	TMEM126A	63	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020512820512820513	Transmembrane protein 126A	R64H	False	False	False	False	False	Q9H061_63_H
Q9H061	TMEM126A	187	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020512820512820513	Transmembrane protein 126A	S188T	False	False	False	False	False	Q9H061_187_T
Q9BUB7	TMEM70	126	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	T127A	False	False	False	False	False	Q9BUB7_126_A
Q9BUB7	TMEM70	227	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	N228K	False	False	False	False	False	Q9BUB7_227_K
Q9H3S4	TPK1	32	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	R33H	True	False	False	False	True	Q9H3S4_32_H
P43897	TSFM	251	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	V252I	False	False	False	False	False	P43897_251_I
Q8WZ42	TTN	2962	T	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T2963P	False	False	False	False	False	Q8WZ42_2962_P
P42704	LRPPRC	477	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	T478A	False	False	False	False	False	P42704_477_A
P42704	LRPPRC	13	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A14G	True	False	False	False	True	P42704_13_G
Q96GW9	MARS2	526	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	V527A	False	False	False	False	False	Q96GW9_526_A
O95140	MFN2	704	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V705I	False	False	False	False	False	O95140_704_I
P35749	MYH11;NDE1	1233	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007606490872210953	Myosin-11 (Myosin heavy chain 11) (Myosin heavy ch	A1234T	False	False	False	False	False	P35749_1233_T
Q86TC9	MYPN	815	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	P816L	False	False	False	False	False	Q86TC9_815_L
O95299	NDUFA10	237	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	E238K	False	False	False	False	False	O95299_237_K
Q16795	NDUFA9	4	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A5P	True	False	False	False	True	Q16795_4_P
Q9Y375	NDUFAF1	175	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	E176K	False	False	False	False	False	Q9Y375_175_K
Q9Y375	NDUFAF1	185	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	I186M	False	False	False	False	False	Q9Y375_185_M
P19404	NDUFV2	39	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020080321285140562	NADH dehydrogenase [ubiquinone] flavoprotein 2, mi	V40M	True	False	False	False	True	P19404_39_M
Q0ZGT2	NEXN	469	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	E470Q	False	False	False	False	False	Q0ZGT2_469_Q
Q9UMS0	NFU1	95	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	R96C	False	True	False	True	False	Q9UMS0_95_C
Q9UMS0	NFU1	24	M	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	M25K	True	False	False	False	True	Q9UMS0_24_K
P11498	PC	749	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	T750M	False	False	False	False	False	P11498_749_M
Q8TAB3	PCDH19	979	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	R980C	False	True	False	True	False	Q8TAB3_979_C
Q8TAB3	PCDH19	1093	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	L1094V	False	False	False	False	False	Q8TAB3_1093_V
O00330	PDHX	23	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	R24G	True	False	False	False	True	O00330_23_G
O00330	PDHX	188	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	R189H	False	False	False	False	False	O00330_188_H
O00330	PDHX	325	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	V326L	False	False	False	False	False	O00330_325_L
O00330	PDHX	443	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	R444K	False	False	False	False	False	O00330_443_K
Q5T2R2	PDSS1	135	F	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	F136C	False	True	False	True	False	Q5T2R2_135_C
Q5T2R2	PDSS1	29	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	G30V	True	False	False	False	True	Q5T2R2_29_V
Q86YH6	PDSS2	2	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015037593984962405	All trans-polyprenyl-diphosphate synthase PDSS2 (A	F3L	True	False	False	False	True	Q86YH6_2_L
Q86YH6	PDSS2	3	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015037593984962405	All trans-polyprenyl-diphosphate synthase PDSS2 (A	R4P	True	False	False	False	True	Q86YH6_3_P
Q96T60	PNKP	195	Y	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	Y196N	False	False	False	False	False	Q96T60_195_N
Q96T60	PNKP	477	V	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	V478G	False	False	False	False	False	Q96T60_477_G
Q9UHN1	POLG2	168	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	A169T	False	False	False	False	False	Q9UHN1_168_T
Q9UHN1	POLG2	415	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	G416A	False	False	False	False	False	Q9UHN1_415_A
Q9Y606	PUS1	132	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	D133N	False	False	False	False	False	Q9Y606_132_N
Q9NP81	SARS2	34	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	T35A	True	False	False	False	True	Q9NP81_34_A
P35498	SCN1A	1464	I	V	0	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1465V	False	False	False	False	False	P35498_1464_V
Q9UQD0	SCN8A	699	I	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I700L	False	False	False	False	False	Q9UQD0_699_L
O75880	SCO1	57	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013289036544850499	Protein SCO1 homolog, mitochondrial	P58S	False	False	False	False	False	O75880_57_S
Q96JX3	SERAC1	29	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	I30T	True	False	False	False	True	Q96JX3_29_T
Q96JX3	SERAC1	46	F	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	F47I	True	False	False	False	True	Q96JX3_46_I
Q9H936	SLC25A22	149	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02476780185758514	Mitochondrial glutamate carrier 1 (GC-1) (Glutamat	L150V	False	False	False	False	False	Q9H936_149_V
Q9UQ90	SPG7	293	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	R294H	False	False	False	False	False	Q9UQ90_293_H
Q13813	SPTAN1	443	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	V444I	False	False	False	False	False	Q13813_443_I
Q9P2R7	SUCLA2	198	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	S199T	False	False	False	False	False	Q9P2R7_198_T
Q9P2R7	SUCLA2	366	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	D367N	False	False	False	False	False	Q9P2R7_366_N
Q9P2R7	SUCLA2	36	L	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	L37W	True	False	False	False	True	Q9P2R7_36_W
Q9P2R7	SUCLA2	85	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	I86V	False	False	False	False	False	Q9P2R7_85_V
Q9P2R7	SUCLA2	12	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	V13M	True	False	False	False	True	Q9P2R7_12_M
Q15526	SURF1	55	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	A56G	False	False	False	False	False	Q15526_55_G
Q9BSH4	TACO1	144	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026936026936026935	Translational activator of cytochrome c oxidase 1 	G145S	False	False	False	False	False	Q9BSH4_144_S
Q9ULP9	TBC1D24	294	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	F295L	False	False	False	True	False	Q9ULP9_294_L
O60741	HCN1	99	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S100F	False	False	False	False	False	O60741_99_F
O60741	HCN1	271	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S272P	False	False	False	False	False	O60741_271_P
O60741	HCN1	296	R	T	1	ClinVar	no assertion criteria provided	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R297T	False	False	False	False	False	O60741_296_T
O60741	HCN1	278	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	H279Y	False	False	False	False	False	O60741_278_Y
Q96D31	ORAI1	244	P	L	1	ClinVar	no assertion criteria provided	0.009966777408637873	Calcium release-activated calcium channel protein 	P245L	False	False	False	False	False	Q96D31_244_L
Q9BYM8	RBCK1	386	N	S	1	ClinVar	criteria provided, single submitter	0.06274509803921569	RanBP-type and C3HC4-type zinc finger-containing p	N387S	False	False	False	True	False	Q9BYM8_386_S
Q8WYQ3	CHCHD10	58	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	S59L	False	False	False	False	False	Q8WYQ3_58_L
Q86YT5	SLC13A5	218	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	G219R	False	False	False	False	False	Q86YT5_218_R
Q86YT5	SLC13A5	226	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	T227M	False	False	False	False	False	Q86YT5_226_M
Q86YT5	SLC13A5	487	L	P	1	ClinVar	criteria provided, single submitter	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	L488P	False	False	False	False	False	Q86YT5_487_P
P21912	SDHB	128	P	R	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	P129R	False	False	False	True	False	P21912_128_R
Q5ST30	VARS2	348	A	T	1	ClinVar	no assertion criteria provided	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	A349T	False	False	False	False	False	Q5ST30_348_T
Q5ST30	VARS2	595	A	D	1	ClinVar	no assertion criteria provided	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	A596D	False	False	False	False	False	Q5ST30_595_D
Q5ST30	VARS2	336	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	T337I	False	False	False	False	False	Q5ST30_336_I
P21912	SDHB	191	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C192Y	False	False	True	True	False	P21912_191_Y
P21912	SDHB	117	D	Y	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	D118Y	False	False	False	True	False	P21912_117_Y
P21912	SDHB	95	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G96S	False	False	False	True	False	P21912_95_S
P04049	RAF1	602	L	P	1	ClinVar	no assertion criteria provided	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	L603P	False	False	False	False	False	P04049_602_P
P21912	SDHB	229	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R230H	False	False	False	True	False	P21912_229_H
P21912	SDHB	67	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C68Y	False	False	True	True	False	P21912_67_Y
Q5JTZ9	AARS2	49	F	C	1	ClinVar	no assertion criteria provided	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	F50C	True	True	False	True	True	Q5JTZ9_49_C
Q9BW92	TARS2	281	P	L	1	ClinVar	criteria provided, single submitter	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	P282L	False	False	False	False	False	Q9BW92_281_L
Q8N157	AHI1	1085	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016722408026755852	Jouberin (Abelson helper integration site 1 protei	E1086G	False	False	False	False	False	Q8N157_1085_G
Q13586	STIM1	114	I	F	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	I115F	False	False	False	False	False	Q13586_114_F
P12883	MYH7	1480	L	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1481P	False	False	False	False	False	P12883_1480_P
P12883	MYH7	1598	T	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T1599P	False	False	False	False	False	P12883_1598_P
P12883	MYH7	1607	R	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1608P	False	False	False	False	False	P12883_1607_P
P12883	MYH7	1611	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1612P	False	False	False	False	False	P12883_1611_P
P12883	MYH7	1645	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1646P	False	False	False	False	False	P12883_1645_P
P12883	MYH7	1635	A	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1636P	False	False	False	False	False	P12883_1635_P
P51608	MECP2	398	P	L	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P399L	False	False	False	False	False	P51608_398_L
P51608	MECP2	404	P	L	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P405L	False	False	False	False	False	P51608_404_L
P51608	MECP2	217	G	A	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	G218A	False	False	False	False	False	P51608_217_A
P51608	MECP2	239	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	T240S	False	False	False	False	False	P51608_239_S
P51608	MECP2	316	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	K317R	False	False	False	False	False	P51608_316_R
O76039	CDKL5	398	N	T	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N399T	False	False	False	False	False	O76039_398_T
O76039	CDKL5	41	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	K42R	True	False	False	False	True	O76039_41_R
O76039	CDKL5	443	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R444C	False	True	False	True	False	O76039_443_C
O76039	CDKL5	460	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N461S	False	False	False	False	False	O76039_460_S
O76039	CDKL5	507	I	T	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	I508T	False	False	False	False	False	O76039_507_T
O76039	CDKL5	630	I	T	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	I631T	False	False	False	False	False	O76039_630_T
O76039	CDKL5	64	R	Q	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R65Q	False	False	False	False	False	O76039_64_Q
O76039	CDKL5	717	V	M	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V718M	False	False	False	False	False	O76039_717_M
O76039	CDKL5	126	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H127R	False	False	False	False	False	O76039_126_R
O76039	CDKL5	177	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R178W	False	False	False	False	False	O76039_177_W
O76039	CDKL5	179	P	L	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P180L	False	False	False	False	False	O76039_179_L
O76039	CDKL5	192	D	G	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	D193G	False	False	False	False	False	O76039_192_G
O76039	CDKL5	195	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	S196L	False	False	False	False	False	O76039_195_L
O76039	CDKL5	19	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G20R	True	False	False	False	True	O76039_19_R
O76039	CDKL5	219	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L220P	False	False	False	False	False	O76039_219_P
O76039	CDKL5	284	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R285S	False	False	False	False	False	O76039_284_S
Q9NZV8	KCND2	403	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	V404M	False	False	False	False	False	Q9NZV8_403_M
Q99714	HSD17B10	85	D	G	1	ClinVar	no assertion criteria provided	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	D86G	False	False	False	False	False	Q99714_85_G
O14979	HNRNPDL	377	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007142857142857143	Heterogeneous nuclear ribonucleoprotein D-like (hn	D378H	False	False	False	False	False	O14979_377_H
P43897	TSFM	314	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	C315Y	False	False	True	True	False	P43897_314_Y
O95140	MFN2	258	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R259C	False	True	False	True	False	O95140_258_C
P11532	DMD	570	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	F571L	False	False	False	False	False	P11532_570_L
Q9BR39	JPH2	160	T	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	T161K	False	False	False	False	False	Q9BR39_160_K
P12883	MYH7	286	Y	C	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Y287C	False	True	False	True	False	P12883_286_C
P12883	MYH7	1052	R	Q	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1053Q	False	False	False	False	False	P12883_1052_Q
P10916	MYL2	79	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	T80N	False	False	False	False	False	P10916_79_N
Q9H1R3	MYLK2	300	T	N	0	ClinVar	criteria provided, single submitter	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	T301N	False	False	False	False	False	Q9H1R3_300_N
P52179	MYOM1	659	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	P660A	False	False	False	False	False	P52179_659_A
Q86TC9	MYPN	1232	I	F	0	ClinVar	no assertion criteria provided	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	I1233F	False	False	False	False	False	Q86TC9_1232_F
Q9UQD0	SCN8A	1616	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1617Q	False	False	False	False	False	Q9UQD0_1616_Q
Q9UQD0	SCN8A	1465	N	K	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1466K	False	False	False	False	False	Q9UQD0_1465_K
Q9UQD0	SCN8A	1465	N	T	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1466T	False	False	False	False	False	Q9UQD0_1465_T
P13637	ATP1A3	817	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	E818K	False	False	False	False	False	P13637_817_K
Q13698	CACNA1S	1085	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R1086S	False	False	False	False	False	Q13698_1085_S
Q00577	PURA	96	K	E	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	K97E	False	False	False	False	False	Q00577_96_E
Q00577	PURA	99	L	P	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	L100P	False	False	False	False	False	Q00577_99_P
Q00577	PURA	88	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	A89P	False	False	False	False	False	Q00577_88_P
Q00577	PURA	198	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	R199P	False	False	False	False	False	Q00577_198_P
P25705	ATP5F1A	320	Y	C	1	ClinVar	no assertion criteria provided	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	Y321C	False	True	False	True	False	P25705_320_C
P30084	ECHS1	0	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	M1R	True	False	False	False	True	P30084_0_R
P30084	ECHS1	1	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A2V	True	False	False	False	True	P30084_1_V
O95817	BAG3	208	P	Q	1	ClinVar	criteria provided, single submitter	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P209Q	False	False	False	False	False	O95817_208_Q
Q14721	KCNB1	346	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S347R	False	False	False	False	False	Q14721_346_R
Q14721	KCNB1	373	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T374I	False	False	False	False	False	Q14721_373_I
Q14721	KCNB1	378	G	R	1	ClinVar	no assertion criteria provided	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G379R	False	False	False	False	False	Q14721_378_R
P63267	ACTG2	268	G	E	1	ClinVar	no assertion criteria provided	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	G269E	False	False	False	False	False	P63267_268_E
Q05193	DNM1	176	A	P	1	ClinVar	no assertion criteria provided	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	A177P	False	False	False	False	False	Q05193_176_P
Q05193	DNM1	205	K	N	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	K206N	False	False	False	False	False	Q05193_205_N
Q05193	DNM1	358	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G359A	False	False	False	False	False	Q05193_358_A
O76039	CDKL5	200	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L201P	False	False	False	False	False	O76039_200_P
O76039	CDKL5	573	P	L	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P574L	False	False	False	False	False	O76039_573_L
O76039	CDKL5	851	P	L	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P852L	False	False	False	False	False	O76039_851_L
Q15842	KCNJ8	421	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	ATP-sensitive inward rectifier potassium channel 8	S422L	False	False	False	False	False	Q15842_421_L
Q96Q11	TRNT1	189	R	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	R190I	False	False	False	False	False	Q96Q11_189_I
Q96Q11	TRNT1	222	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	I223T	False	False	False	False	False	Q96Q11_222_T
Q96Q11	TRNT1	165	L	S	1	ClinVar	no assertion criteria provided	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	L166S	False	False	False	False	False	Q96Q11_165_S
Q96Q11	TRNT1	153	T	I	1	ClinVar	no assertion criteria provided	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	T154I	False	False	False	False	False	Q96Q11_153_I
P15924	DSP	596	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	S597L	False	False	False	False	False	P15924_596_L
P15924	DSP	563	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T564I	False	False	False	False	False	P15924_563_I
Q96QS3	ARX	332	T	S	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	T333S	False	False	False	False	False	Q96QS3_332_S
O00499	BIN1	531	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	T532M	False	False	False	False	False	O00499_531_M
P11166	SLC2A1	33	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	N34D	True	False	False	False	True	P11166_33_D
P61764	STXBP1	144	Y	H	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Y145H	False	False	False	False	False	P61764_144_H
P61764	STXBP1	244	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	H245R	False	False	False	False	False	P61764_244_R
Q13813	SPTAN1	434	S	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	S435A	False	False	False	False	False	Q13813_434_A
Q9H936	SLC25A22	56	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02476780185758514	Mitochondrial glutamate carrier 1 (GC-1) (Glutamat	V57I	False	False	False	False	False	Q9H936_56_I
P50570	DNM2	374	V	E	1	ClinVar	criteria provided, single submitter	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	V375E	False	False	False	False	False	P50570_374_E
P50570	DNM2	521	R	H	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R522H	False	False	False	False	False	P50570_521_H
P50570	DNM2	522	R	G	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R523G	False	False	False	False	False	P50570_522_G
P50570	DNM2	620	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	L621P	False	False	False	False	False	P50570_620_P
P50570	DNM2	626	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	P627R	False	False	False	False	False	P50570_626_R
P21817	RYR1	1351	A	G	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A1352G	False	False	False	False	False	P21817_1351_G
P21817	RYR1	1570	I	V	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	I1571V	False	False	False	False	False	P21817_1570_V
P21817	RYR1	4293	T	M	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T4294M	False	False	False	False	False	P21817_4293_M
Q8TAB3	PCDH19	231	N	I	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	N232I	False	False	False	False	False	Q8TAB3_231_I
Q13496	MTM1	0	M	R	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	M1R	True	False	False	False	True	Q13496_0_R
Q13496	MTM1	0	M	I	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	M1I	True	False	False	False	True	Q13496_0_I
Q13496	MTM1	48	V	F	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	V49F	True	False	False	False	True	Q13496_48_F
Q13496	MTM1	68	R	G	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R69G	False	False	False	False	False	Q13496_68_G
Q13496	MTM1	69	L	F	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L70F	False	False	False	False	False	Q13496_69_F
Q13496	MTM1	86	L	P	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L87P	False	False	False	False	False	Q13496_86_P
Q13496	MTM1	178	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P179S	False	False	False	False	False	Q13496_178_S
Q13496	MTM1	183	R	G	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R184G	False	False	False	False	False	Q13496_183_G
Q13496	MTM1	185	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	T186I	False	False	False	False	False	Q13496_185_I
Q13496	MTM1	191	Y	C	1	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	Y192C	False	True	False	True	False	Q13496_191_C
Q13496	MTM1	203	V	G	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	V204G	False	False	False	False	False	Q13496_203_G
Q13496	MTM1	204	P	L	1	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P205L	False	False	False	False	False	Q13496_204_L
Q13496	MTM1	225	P	T	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P226T	False	False	False	False	False	Q13496_225_T
Q13496	MTM1	226	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	V227M	False	False	False	False	False	Q13496_226_M
Q13496	MTM1	227	L	P	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L228P	False	False	False	False	False	Q13496_227_P
Q13496	MTM1	247	G	V	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G248V	False	False	False	False	False	Q13496_247_V
Q13496	MTM1	259	Y	S	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	Y260S	False	False	False	False	False	Q13496_259_S
Q13496	MTM1	263	I	S	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	I264S	False	False	False	False	False	Q13496_263_S
Q13496	MTM1	304	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	E305K	False	False	False	False	False	Q13496_304_K
Q13496	MTM1	319	S	P	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	S320P	False	False	False	False	False	Q13496_319_P
Q13496	MTM1	345	W	R	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	W346R	False	False	False	False	False	Q13496_345_R
Q13496	MTM1	373	H	D	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	H374D	False	False	False	False	False	Q13496_373_D
Q13496	MTM1	377	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G378R	False	False	False	False	False	Q13496_377_R
Q13496	MTM1	379	D	V	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	D380V	False	False	False	False	False	Q13496_379_V
Q13496	MTM1	386	S	Y	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	S387Y	False	False	False	False	False	Q13496_386_Y
Q13496	MTM1	393	D	H	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	D394H	False	False	False	False	False	Q13496_393_H
Q13496	MTM1	401	G	A	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G402A	False	False	False	False	False	Q13496_401_A
Q13496	MTM1	410	W	C	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	W411C	False	True	False	True	False	Q13496_410_C
Q13496	MTM1	414	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G415E	False	False	False	False	False	Q13496_414_E
Q13496	MTM1	420	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R421Q	False	False	False	False	False	Q13496_420_Q
Q13496	MTM1	435	P	L	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P436L	False	False	False	False	False	Q13496_435_L
Q13496	MTM1	441	I	N	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	I442N	False	False	False	False	False	Q13496_441_N
Q13496	MTM1	442	D	A	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	D443A	False	False	False	False	False	Q13496_442_A
Q13496	MTM1	458	N	I	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	N459I	False	False	False	False	False	Q13496_458_I
Q13496	MTM1	462	L	S	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L463S	False	False	False	False	False	Q13496_462_S
Q13496	MTM1	462	L	W	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L463W	False	False	False	False	False	Q13496_462_W
Q13496	MTM1	475	G	V	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G476V	False	False	False	False	False	Q13496_475_V
Q13496	MTM1	477	F	S	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	F478S	False	False	False	False	False	Q13496_477_S
Q13496	MTM1	567	I	V	0	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	I568V	False	False	False	False	False	Q13496_567_V
O76039	CDKL5	20	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E21G	True	False	False	False	True	O76039_20_G
O76039	CDKL5	175	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	W176R	False	False	False	False	False	O76039_175_R
O76039	CDKL5	466	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H467R	False	False	False	False	False	O76039_466_R
Q14683	SMC1A	1048	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	R1049Q	False	False	False	False	False	Q14683_1048_Q
Q14683	SMC1A	710	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	R711W	False	False	False	False	False	Q14683_710_W
P31040	SDHA	584	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	R585W	False	False	False	False	False	P31040_584_W
Q6UW78	UQCC3	19	V	E	1	ClinVar	no assertion criteria provided	0.0	Ubiquinol-cytochrome-c reductase complex assembly 	V20E	True	False	False	False	True	Q6UW78_19_E
P13637	ATP1A3	926	C	Y	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	C927Y	False	False	True	True	False	P13637_926_Y
P13637	ATP1A3	755	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	R756H	False	False	False	False	False	P13637_755_H
P15924	DSP	2374	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	G2375R	False	False	False	False	False	P15924_2374_R
Q14896	MYBPC3	456	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	T457M	False	False	False	False	False	Q14896_456_M
P12883	MYH7	869	R	C	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R870C	False	True	False	True	False	P12883_869_C
P12883	MYH7	319	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V320M	False	False	False	False	False	P12883_319_M
P21817	RYR1	706	G	S	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G707S	False	False	False	False	False	P21817_706_S
P21817	RYR1	892	G	S	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G893S	False	False	False	False	False	P21817_892_S
P21817	RYR1	932	A	T	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A933T	False	False	False	False	False	P21817_932_T
P21817	RYR1	1678	R	H	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R1679H	False	False	False	False	False	P21817_1678_H
P11532	DMD	2523	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2524H	False	False	False	False	False	P11532_2523_H
P47870	GABRB2	78	M	T	1	ClinVar	no assertion criteria provided	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	M79T	False	False	False	False	False	P47870_78_T
Q9NWS8	RMND1	237	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015590200445434299	Required for meiotic nuclear division protein 1 ho	N238S	False	False	False	False	False	Q9NWS8_237_S
Q9UQD0	SCN8A	222	R	G	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R223G	False	False	False	False	False	Q9UQD0_222_G
Q96RR1	TWNK	584	N	S	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	N585S	False	False	False	False	False	Q96RR1_584_S
Q96RR1	TWNK	440	W	G	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	W441G	False	False	False	False	False	Q96RR1_440_G
Q13224	GRIN2B	617	V	G	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V618G	False	False	False	False	False	Q13224_617_G
Q13224	GRIN2B	614	N	I	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N615I	False	False	False	False	False	Q13224_614_I
Q13224	GRIN2B	539	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R540H	False	False	False	False	False	Q13224_539_H
P07333	CSF1R	783	V	M	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V784M	False	False	False	False	False	P07333_783_M
P07333	CSF1R	780	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A781V	False	False	False	False	False	P07333_780_V
P07333	CSF1R	776	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	R777Q	False	False	False	False	False	P07333_776_Q
O95831	AIFM1	559	Y	H	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	Y560H	False	False	False	False	False	O95831_559_H
O95831	AIFM1	474	P	L	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P475L	False	False	False	False	False	O95831_474_L
O95831	AIFM1	439	A	V	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A440V	False	False	False	False	False	O95831_439_V
O95831	AIFM1	421	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	R422Q	False	False	False	False	False	O95831_421_Q
O95831	AIFM1	421	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	R422W	False	False	False	False	False	O95831_421_W
O95831	AIFM1	365	N	S	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	N366S	False	False	False	False	False	O95831_365_S
O95831	AIFM1	359	G	R	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G360R	False	False	False	False	False	O95831_359_R
O95831	AIFM1	286	I	T	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	I287T	False	False	False	False	False	O95831_286_T
O95831	AIFM1	190	L	P	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	L191P	False	False	False	False	False	O95831_190_P
O95831	AIFM1	144	A	V	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A145V	False	False	False	False	False	O95831_144_V
Q9Y4W6	AFG3L2	624	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	M625I	False	False	False	False	False	Q9Y4W6_624_I
P12111	COL6A3	2973	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A2974T	False	False	False	False	False	P12111_2973_T
P12111	COL6A3	1436	I	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1437M	False	False	False	False	False	P12111_1436_M
P12111	COL6A3	1156	R	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1157M	False	False	False	False	False	P12111_1156_M
P12110	COL6A2	285	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G286E	False	False	False	False	False	P12110_285_E
P12110	COL6A2	291	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G292S	False	False	False	False	False	P12110_291_S
P12110	COL6A2	303	G	V	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G304V	False	False	False	False	False	P12110_303_V
P12110	COL6A2	852	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R853Q	False	False	False	False	False	P12110_852_Q
P46976	GYG1	101	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017142857142857144	Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)	D102H	False	False	False	False	False	P46976_101_H
P21912	SDHB	92	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C93R	False	False	True	True	False	P21912_92_R
P45379	TNNT2	278	N	K	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	N279K	False	False	False	False	False	P45379_278_K
P45379	TNNT2	91	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	G92R	False	False	False	False	False	P45379_91_R
P35609	ACTN2	432	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	S433L	False	False	False	False	False	P35609_432_L
P21912	SDHB	86	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	L87S	False	False	False	True	False	P21912_86_S
P45379	TNNT2	188	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	S189F	False	False	False	False	False	P45379_188_F
P45379	TNNT2	119	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	F120L	False	False	False	False	False	P45379_119_L
P45379	TNNT2	103	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R104C	False	True	False	True	False	P45379_103_C
Q0ZGT2	NEXN	316	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	M317L	False	False	False	False	False	Q0ZGT2_316_L
P35609	ACTN2	118	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A119T	False	False	False	False	False	P35609_118_T
Q14192	FHL2	36	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.12544802867383512	Four and a half LIM domains protein 2 (FHL-2) (LIM	A37S	True	False	False	True	True	Q14192_36_S
Q8WZ42	TTN	96	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V97M	False	False	False	False	False	Q8WZ42_96_M
Q9BTV4	TMEM43	232	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	Y233C	False	True	False	True	False	Q9BTV4_232_C
Q9BTV4	TMEM43	276	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	T277S	False	False	False	False	False	Q9BTV4_276_S
P15924	DSP	1307	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1308Q	False	False	False	False	False	P15924_1307_Q
Q9UGJ0	PRKAG2	157	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	G158S	False	False	False	False	False	Q9UGJ0_157_S
Q9UGJ0	PRKAG2	343	H	Y	1	ClinVar	criteria provided, single submitter	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	H344Y	False	False	False	False	False	Q9UGJ0_343_Y
Q8WUU5	GATAD1	58	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022304832713754646	GATA zinc finger domain-containing protein 1 (Ocul	G59A	False	False	False	False	False	Q8WUU5_58_A
O95677	EYA4	301	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012519561815336464	Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absen	G302D	False	False	False	False	False	O95677_301_D
Q5T481	RBM20	733	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R734Q	False	False	False	False	False	Q5T481_733_Q
O95817	BAG3	76	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P77L	False	False	False	False	False	O95817_76_L
Q14896	MYBPC3	494	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R495Q	False	False	False	False	False	Q14896_494_Q
Q5T481	RBM20	43	P	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P44Q	True	False	False	False	True	Q5T481_43_Q
O95817	BAG3	62	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P63A	False	False	False	False	False	O95817_62_A
O95817	BAG3	217	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	R218Q	False	False	False	False	False	O95817_217_Q
O95817	BAG3	379	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P380S	False	False	False	False	False	O95817_379_S
O76041	NEBL	651	I	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	I652L	False	False	False	False	False	O76041_651_L
O76041	NEBL	331	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	V332I	False	False	False	False	False	O76041_331_I
O76041	NEBL	63	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	K64R	False	False	False	False	False	O76041_63_R
O75112	LDB3	164	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	R165W	False	False	False	False	False	O75112_164_W
Q14896	MYBPC3	1137	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R1138H	False	False	False	False	False	Q14896_1137_H
Q14896	MYBPC3	596	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R597Q	False	False	False	False	False	Q14896_596_Q
Q14896	MYBPC3	494	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R495W	False	False	False	False	False	Q14896_494_W
Q14896	MYBPC3	447	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	F448S	False	False	False	False	False	Q14896_447_S
Q14896	MYBPC3	155	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	L156P	False	False	False	False	False	Q14896_155_P
O75112	LDB3	98	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P99S	False	False	False	False	False	O75112_98_S
O75112	LDB3	348	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S349T	False	False	False	False	False	O75112_348_T
P13533	MYH6	1430	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	M1431I	False	False	False	False	False	P13533_1430_I
P13533	MYH6	23	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	L24I	True	False	False	False	True	P13533_23_I
P12883	MYH7	867	A	P	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A868P	False	False	False	False	False	P12883_867_P
P12883	MYH7	847	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E848G	False	False	False	False	False	P12883_847_G
P12883	MYH7	740	G	W	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G741W	False	False	False	False	False	P12883_740_W
P12883	MYH7	735	I	T	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I736T	False	False	False	False	False	P12883_735_T
P12883	MYH7	656	K	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K657Q	False	False	False	False	False	P12883_656_Q
P12883	MYH7	575	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	H576R	False	False	False	False	False	P12883_575_R
P12883	MYH7	441	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R442C	False	True	False	True	False	P12883_441_C
P12883	MYH7	337	V	M	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V338M	False	False	False	False	False	P12883_337_M
P12883	MYH7	266	L	V	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L267V	False	False	False	False	False	P12883_266_V
P12883	MYH7	246	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F247L	False	False	False	False	False	P12883_246_L
P12883	MYH7	198	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A199V	False	False	False	False	False	P12883_198_V
P10916	MYL2	160	H	R	1	ClinVar	no assertion criteria provided	0.0	Myosin regulatory light chain 2, ventricular/cardi	H161R	False	False	False	False	False	P10916_160_R
P13533	MYH6	28	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	R29Q	True	False	False	False	True	P13533_28_Q
P12883	MYH7	1499	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1500W	False	False	False	False	False	P12883_1499_W
P12883	MYH7	1355	E	K	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1356K	False	False	False	False	False	P12883_1355_K
P12883	MYH7	929	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E930Q	False	False	False	False	False	P12883_929_Q
P12883	MYH7	927	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D928N	False	False	False	False	False	P12883_927_N
P12883	MYH7	903	R	C	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R904C	False	True	False	True	False	P12883_903_C
P12883	MYH7	868	R	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R869H	False	False	False	False	False	P12883_868_H
P12883	MYH7	857	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R858C	False	True	False	True	False	P12883_857_C
P12883	MYH7	846	K	E	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K847E	False	False	False	False	False	P12883_846_E
P12883	MYH7	837	P	Q	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P838Q	False	False	False	False	False	P12883_837_Q
P12883	MYH7	782	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R783G	False	False	False	False	False	P12883_782_G
P12883	MYH7	767	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G768R	False	False	False	False	False	P12883_767_R
P12883	MYH7	748	L	Q	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L749Q	False	False	False	False	False	P12883_748_Q
P12883	MYH7	709	P	H	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P710H	False	False	False	False	False	P12883_709_H
P12883	MYH7	693	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R694C	False	True	False	True	False	P12883_693_C
P12883	MYH7	670	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R671C	False	True	False	True	False	P12883_670_C
P12883	MYH7	651	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R652G	False	False	False	False	False	P12883_651_G
P12883	MYH7	608	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Y609C	False	True	False	True	False	P12883_608_C
P12883	MYH7	516	L	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L517M	False	False	False	False	False	P12883_516_M
P12883	MYH7	478	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N479S	False	False	False	False	False	P12883_478_S
P12883	MYH7	385	Y	C	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Y386C	False	True	False	True	False	P12883_385_C
P12883	MYH7	251	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F252S	False	False	False	False	False	P12883_251_S
P12883	MYH7	168	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R169G	False	False	False	False	False	P12883_168_G
P12883	MYH7	142	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R143W	False	False	False	False	False	P12883_142_W
P68032	ACTC1	127	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	T128I	False	False	False	False	False	P68032_127_I
P19429	TNNI3	203	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R204C	False	True	False	True	False	P19429_203_C
P19429	TNNI3	197	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	L198V	False	False	False	False	False	P19429_197_V
P19429	TNNI3	191	R	L	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R192L	False	False	False	False	False	P19429_191_L
P19429	TNNI3	191	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R192C	False	True	False	True	False	P19429_191_C
P19429	TNNI3	169	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R170W	False	False	False	False	False	P19429_169_W
P19429	TNNI3	165	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	S166F	False	False	False	False	False	P19429_165_F
P68032	ACTC1	288	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	I289T	False	False	False	False	False	P68032_288_T
P09493	TPM1	138	E	V	1	ClinVar	no assertion criteria provided	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E139V	False	False	False	False	False	P09493_138_V
P09493	TPM1	186	E	Q	1	ClinVar	no assertion criteria provided	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E187Q	False	False	False	False	False	P09493_186_Q
P19429	TNNI3	203	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R204H	False	False	False	False	False	P19429_203_H
P19429	TNNI3	191	R	P	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R192P	False	False	False	False	False	P19429_191_P
P19429	TNNI3	189	D	Y	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	D190Y	False	False	False	False	False	P19429_189_Y
P19429	TNNI3	169	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R170Q	False	False	False	False	False	P19429_169_Q
Q9H1R3	MYLK2	169	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	E170K	False	False	False	False	False	Q9H1R3_169_K
Q14126	DSG2	1027	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	G1028S	False	False	False	False	False	Q14126_1027_S
Q14126	DSG2	1069	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	T1070M	False	False	False	False	False	Q14126_1069_M
P14923	JUP	175	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0174496644295302	Junction plakoglobin (Catenin gamma) (Desmoplakin 	R176Q	False	False	False	False	False	P14923_175_Q
P12111	COL6A3	11	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	V12I	True	False	False	False	True	P12111_11_I
O60313	OPA1	450	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	L451R	False	False	False	False	False	O60313_450_R
Q9UQD0	SCN8A	474	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R475Q	False	False	False	False	False	Q9UQD0_474_Q
Q16586	SGCA	373	R	C	0	ClinVar	reviewed by expert panel	0.020671834625323	Alpha-sarcoglycan (Alpha-SG) (50 kDa dystrophin-as	R374C	False	True	False	True	False	Q16586_373_C
P12110	COL6A2	868	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	D869N	False	False	False	False	False	P12110_868_N
P12111	COL6A3	2911	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	P2912L	False	False	False	False	False	P12111_2911_L
O43526	KCNQ2	273	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T274M	False	False	False	False	False	O43526_273_M
P11532	DMD	2936	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2937Q	False	False	False	False	False	P11532_2936_Q
P11532	DMD	2365	K	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	K2366Q	False	False	False	False	False	P11532_2365_Q
P11532	DMD	881	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	D882G	False	False	False	False	False	P11532_881_G
P11532	DMD	417	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T418S	False	False	False	False	False	P11532_417_S
P12111	COL6A3	97	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	T98S	False	False	False	False	False	P12111_97_S
P20929	NEB	1300	Y	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	Y1301H	False	False	False	False	False	P20929_1300_H
Q16363	LAMA4	1816	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	I1817T	False	False	False	False	False	Q16363_1816_T
Q16363	LAMA4	213	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	R214H	False	False	False	False	False	Q16363_213_H
Q16363	LAMA4	662	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	I663T	False	False	False	False	False	Q16363_662_T
Q6PJG6	BRAT1	58	L	P	1	ClinVar	no assertion criteria provided	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	L59P	False	False	False	True	False	Q6PJG6_58_P
Q8WYQ3	CHCHD10	14	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	R15L	True	False	False	False	True	Q8WYQ3_14_L
Q8WYQ3	CHCHD10	65	G	V	1	ClinVar	criteria provided, single submitter	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	G66V	False	False	False	False	False	Q8WYQ3_65_V
Q8WYQ3	CHCHD10	57	G	R	1	ClinVar	no assertion criteria provided	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	G58R	False	False	False	False	False	Q8WYQ3_57_R
Q9NZC7	WWOX	46	P	R	1	ClinVar	no assertion criteria provided	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	P47R	True	False	False	False	True	Q9NZC7_46_R
Q92736	RYR2	876	H	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	H877P	False	False	False	False	False	Q92736_876_P
Q92736	RYR2	3307	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	N3308S	False	False	False	False	False	Q92736_3307_S
Q92736	RYR2	4854	I	M	1	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	I4855M	False	False	False	False	False	Q92736_4854_M
Q0ZGT2	NEXN	527	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	E528Q	False	False	False	False	False	Q0ZGT2_527_Q
Q53GG5	PDLIM3	257	G	E	0	ClinVar	criteria provided, single submitter	0.03021978021978022	PDZ and LIM domain protein 3 (Actinin-associated L	G258E	False	False	False	True	False	Q53GG5_257_E
Q5T481	RBM20	339	P	L	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P340L	False	False	False	False	False	Q5T481_339_L
Q5T481	RBM20	1022	D	Y	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D1023Y	False	False	False	False	False	Q5T481_1022_Y
O75112	LDB3	155	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	A156T	False	False	False	False	False	O75112_155_T
Q14896	MYBPC3	653	R	G	1	ClinVar	no assertion criteria provided	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	R654G	False	False	False	False	False	Q14896_653_G
P12883	MYH7	443	N	T	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N444T	False	False	False	False	False	P12883_443_T
P68032	ACTC1	90	T	N	0	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	T91N	False	False	False	False	False	P68032_90_N
P52179	MYOM1	1458	I	K	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	I1459K	False	False	False	False	False	P52179_1458_K
Q8TD43	TRPM4	560	D	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0214168039538715	Transient receptor potential cation channel subfam	D561A	False	False	False	False	False	Q8TD43_560_A
P19429	TNNI3	173	K	N	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	K174N	False	False	False	False	False	P19429_173_N
O14521	SDHD	91	D	G	1	ClinVar	no assertion criteria provided	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	D92G	False	False	False	True	False	O14521_91_G
P63267	ACTG2	147	R	L	1	ClinVar	no assertion criteria provided	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R148L	False	False	False	False	False	P63267_147_L
P36776	LONP1	784	R	G	1	ClinVar	no assertion criteria provided	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R785G	False	False	False	False	False	P36776_784_G
P36776	LONP1	630	S	Y	1	ClinVar	no assertion criteria provided	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	S631Y	False	False	False	False	False	P36776_630_Y
P36776	LONP1	723	A	V	1	ClinVar	no assertion criteria provided	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A724V	False	False	False	False	False	P36776_723_V
P45379	TNNT2	102	K	Q	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	K103Q	False	False	False	False	False	P45379_102_Q
P45379	TNNT2	96	F	L	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	F97L	False	False	False	False	False	P45379_96_L
P08590	MYL3	148	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015384615384615385	Myosin light chain 3 (Cardiac myosin light chain 1	M149I	False	False	False	False	False	P08590_148_I
Q9UGJ0	PRKAG2	237	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	A238T	False	False	False	False	False	Q9UGJ0_237_T
Q14896	MYBPC3	1237	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	L1238P	False	False	False	False	False	Q14896_1237_P
Q14896	MYBPC3	920	Q	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	Q921E	False	False	False	False	False	Q14896_920_E
Q14896	MYBPC3	565	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	C566R	False	False	True	True	False	Q14896_565_R
Q14896	MYBPC3	146	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	P147L	False	False	False	False	False	Q14896_146_L
P12883	MYH7	1751	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1752K	False	False	False	False	False	P12883_1751_K
P12883	MYH7	1554	E	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1555G	False	False	False	False	False	P12883_1554_G
P12883	MYH7	927	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D928V	False	False	False	False	False	P12883_927_V
P12883	MYH7	920	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E921K	False	False	False	False	False	P12883_920_K
P12883	MYH7	902	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E903K	False	False	False	False	False	P12883_902_K
P12883	MYH7	868	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R869C	False	True	False	True	False	P12883_868_C
P12883	MYH7	864	K	E	1	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K865E	False	False	False	False	False	P12883_864_E
P12883	MYH7	851	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M852K	False	False	False	False	False	P12883_851_K
P12883	MYH7	781	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S782R	False	False	False	False	False	P12883_781_R
P12883	MYH7	732	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G733V	False	False	False	False	False	P12883_732_V
P12883	MYH7	730	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P731S	False	False	False	False	False	P12883_730_S
P12883	MYH7	695	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N696S	False	False	False	False	False	P12883_695_S
P12883	MYH7	670	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R671H	False	False	False	False	False	P12883_670_H
P12883	MYH7	538	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M539V	False	False	False	False	False	P12883_538_V
P12883	MYH7	523	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I524T	False	False	False	False	False	P12883_523_T
P12883	MYH7	492	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M493V	False	False	False	False	False	P12883_492_V
P12883	MYH7	438	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M439V	False	False	False	False	False	P12883_438_V
P12883	MYH7	421	Y	D	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Y422D	False	False	False	False	False	P12883_421_D
P12883	MYH7	350	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K351E	False	False	False	False	False	P12883_350_E
P12883	MYH7	280	R	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R281T	False	False	False	False	False	P12883_280_T
P12883	MYH7	249	I	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I250F	False	False	False	False	False	P12883_249_F
P12883	MYH7	246	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F247C	False	True	False	True	False	P12883_246_C
P12883	MYH7	198	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A199T	False	False	False	False	False	P12883_198_T
P19429	TNNI3	198	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	S199N	False	False	False	False	False	P19429_198_N
P31415	CASQ1	243	D	G	1	ClinVar	criteria provided, single submitter	0.0	Calsequestrin-1 (Calmitine) (Calsequestrin, skelet	D244G	False	False	False	False	False	P31415_243_G
Q96I59	NARS2	273	Q	H	1	ClinVar	no assertion criteria provided	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	Q274H	False	False	False	False	False	Q96I59_273_H
Q96I59	NARS2	213	P	L	1	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	P214L	False	False	False	False	False	Q96I59_213_L
Q9ULP9	TBC1D24	39	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R40L	True	False	False	True	True	Q9ULP9_39_L
O60662	KLHL41	412	S	L	1	ClinVar	no assertion criteria provided	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	S413L	False	False	False	False	False	O60662_412_L
Q9H2C2	ARV1	188	G	R	1	ClinVar	criteria provided, single submitter	0.03690036900369004	Protein ARV1 (hARV1)	G189R	False	False	False	True	False	Q9H2C2_188_R
Q86U28	ISCA2	76	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.025974025974025976	Iron-sulfur cluster assembly 2 homolog, mitochondr	G77S	False	False	False	False	False	Q86U28_76_S
P02545	LMNA	305	L	R	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L306R	False	False	False	False	False	P02545_305_R
Q9UKX2	MYH2	1869	L	P	1	ClinVar	no assertion criteria provided	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	L1870P	False	False	False	False	False	Q9UKX2_1869_P
Q9UKX2	MYH2	235	A	T	1	ClinVar	no assertion criteria provided	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	A236T	False	False	False	False	False	Q9UKX2_235_T
Q99643	SDHC	126	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	H127R	False	False	False	False	False	Q99643_126_R
P21912	SDHB	252	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C253Y	False	False	True	True	False	P21912_252_Y
P21912	SDHB	241	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R242C	False	True	False	True	False	P21912_241_C
P21912	SDHB	229	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R230L	False	False	False	True	False	P21912_229_L
P21912	SDHB	229	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R230C	False	True	False	True	False	P21912_229_C
P21912	SDHB	216	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R217C	False	True	False	True	False	P21912_216_C
P21912	SDHB	199	W	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	W200C	False	True	False	True	False	P21912_199_C
P21912	SDHB	191	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C192R	False	False	True	True	False	P21912_191_R
P21912	SDHB	137	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	D138Y	False	False	False	True	False	P21912_137_Y
P21912	SDHB	126	I	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	I127S	False	False	False	True	False	P21912_126_S
P21912	SDHB	52	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G53E	False	False	False	True	False	P21912_52_E
P21912	SDHB	45	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R46Q	True	False	False	True	True	P21912_45_Q
O14521	SDHD	101	H	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	H102N	False	False	False	True	False	O14521_101_N
O14521	SDHD	137	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	G138R	False	False	False	True	False	O14521_137_R
Q96T60	PNKP	374	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	G375W	False	False	False	False	False	Q96T60_374_W
P30084	ECHS1	157	A	D	1	ClinVar	no assertion criteria provided	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A158D	False	False	False	False	False	P30084_157_D
P48544	KCNJ5	40	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021479713603818614	G protein-activated inward rectifier potassium cha	R41C	True	True	False	True	True	P48544_40_C
P15924	DSP	2266	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T2267S	False	False	False	False	False	P15924_2266_S
Q14896	MYBPC3	218	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	V219F	False	False	False	False	False	Q14896_218_F
P12883	MYH7	1256	N	S	0	ClinVar	reviewed by expert panel	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N1257S	False	False	False	False	False	P12883_1256_S
P12883	MYH7	777	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D778E	False	False	False	False	False	P12883_777_E
P40939	HADHA	234	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	R235W	False	False	False	False	False	P40939_234_W
Q9Y223	GNE	586	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	I587T	False	False	False	False	False	Q9Y223_586_T
Q9Y223	GNE	276	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R277C	False	True	False	True	False	Q9Y223_276_C
Q9Y223	GNE	128	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R129Q	False	False	False	False	False	Q9Y223_128_Q
P35670	ATP7B	1002	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019795221843003412	Copper-transporting ATPase 2 (EC 7.2.2.8) (Copper 	A1003T	False	False	False	False	False	P35670_1002_T
Q9Y3A0	COQ4	144	R	G	1	ClinVar	no assertion criteria provided	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R145G	False	False	False	False	False	Q9Y3A0_144_G
Q9Y3A0	COQ4	239	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R240C	False	True	False	True	False	Q9Y3A0_239_C
Q9Y3A0	COQ4	51	L	S	1	ClinVar	no assertion criteria provided	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	L52S	False	False	False	False	False	Q9Y3A0_51_S
Q96D31	ORAI1	97	G	S	1	ClinVar	criteria provided, single submitter	0.009966777408637873	Calcium release-activated calcium channel protein 	G98S	False	False	False	False	False	Q96D31_97_S
Q00577	PURA	205	I	F	1	ClinVar	no assertion criteria provided	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	I206F	False	False	False	False	False	Q00577_205_F
Q13586	STIM1	79	N	T	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	N80T	False	False	False	False	False	Q13586_79_T
P35609	ACTN2	758	R	T	1	ClinVar	no assertion criteria provided	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	R759T	False	False	False	False	False	P35609_758_T
P35609	ACTN2	627	E	G	1	ClinVar	no assertion criteria provided	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	E628G	False	False	False	False	False	P35609_627_G
P35609	ACTN2	227	M	T	1	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	M228T	False	False	False	False	False	P35609_227_T
O76039	CDKL5	19	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G20D	True	False	False	False	True	O76039_19_D
O76039	CDKL5	152	D	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	D153G	False	False	False	False	False	O76039_152_G
O76039	CDKL5	175	W	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	W176C	False	True	False	True	False	O76039_175_C
O76039	CDKL5	796	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	D797N	False	False	False	False	False	O76039_796_N
O15273	TCAP	136	T	I	1	ClinVar	no assertion criteria provided	0.029940119760479042	Telethonin (Titin cap protein)	T137I	False	False	False	False	False	O15273_136_I
Q9Y234	LIPT1	178	T	A	1	ClinVar	no assertion criteria provided	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	T179A	False	False	False	False	False	Q9Y234_178_A
Q9Y234	LIPT1	70	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	S71F	False	False	False	False	False	Q9Y234_70_F
Q99643	SDHC	74	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	G75D	False	False	False	False	False	Q99643_74_D
P31040	SDHA	98	H	Y	1	ClinVar	no assertion criteria provided	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	H99Y	False	False	False	False	False	P31040_98_Y
P35498	SCN1A	1740	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1741Y	False	False	True	True	False	P35498_1740_Y
P35498	SCN1A	1665	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1666F	False	False	False	False	False	P35498_1665_F
P35498	SCN1A	1470	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1471F	False	False	False	False	False	P35498_1470_F
P35498	SCN1A	1450	P	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1451T	False	False	False	False	False	P35498_1450_T
P35498	SCN1A	1361	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1362R	False	False	False	False	False	P35498_1361_R
P35498	SCN1A	1351	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1352P	False	False	False	False	False	P35498_1351_P
P35498	SCN1A	1299	T	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1300R	False	False	False	False	False	P35498_1299_R
P35498	SCN1A	1220	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1221Q	False	False	False	False	False	P35498_1220_Q
P35498	SCN1A	978	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G979E	False	False	False	False	False	P35498_978_E
P35498	SCN1A	930	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R931P	False	False	False	False	False	P35498_930_P
P35498	SCN1A	930	R	H	1	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R931H	False	False	False	False	False	P35498_930_H
P35498	SCN1A	896	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L897S	False	False	False	False	False	P35498_896_S
P35498	SCN1A	784	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M785V	False	False	False	False	False	P35498_784_V
P35498	SCN1A	767	P	L	1	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P768L	False	False	False	False	False	P35498_767_L
P35498	SCN1A	419	A	V	1	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A420V	False	False	False	False	False	P35498_419_V
P35498	SCN1A	381	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D382E	False	False	False	False	False	P35498_381_E
P35498	SCN1A	357	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P358S	False	False	False	False	False	P35498_357_S
P35498	SCN1A	348	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y349C	False	True	False	True	False	P35498_348_C
P35498	SCN1A	344	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C345R	False	False	True	True	False	P35498_344_R
P35498	SCN1A	335	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C336Y	False	False	True	True	False	P35498_335_Y
P35498	SCN1A	112	P	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P113T	False	False	False	False	False	P35498_112_T
P49588	AARS1	80	K	T	1	ClinVar	criteria provided, single submitter	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	K81T	False	False	False	False	False	P49588_80_T
P57059	SIK1	286	P	T	1	ClinVar	no assertion criteria provided	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P287T	False	False	False	False	False	P57059_286_T
P57059	SIK1	635	G	S	1	ClinVar	no assertion criteria provided	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G636S	False	False	False	False	False	P57059_635_S
Q05193	DNM1	288	I	F	1	ClinVar	no assertion criteria provided	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	I289F	False	False	False	False	False	Q05193_288_F
P16389	KCNA2	404	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	P405L	False	False	False	False	False	P16389_404_L
P16389	KCNA2	262	I	T	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	I263T	False	False	False	False	False	P16389_262_T
P16389	KCNA2	297	L	F	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	L298F	False	False	False	False	False	P16389_297_F
P16389	KCNA2	296	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R297Q	False	False	False	False	False	P16389_296_Q
P55084	HADHB	391	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	A392V	False	False	False	False	False	P55084_391_V
P12883	MYH7	1602	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1603P	False	False	False	False	False	P12883_1602_P
P28331	NDUFS1	252	V	G	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	V253G	False	False	False	False	False	P28331_252_G
Q8N335	GPD1L	219	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03133903133903134	Glycerol-3-phosphate dehydrogenase 1-like protein 	R220H	False	False	False	True	False	Q8N335_219_H
Q01484	ANK2	3284	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011119535001263583	Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non	I3285T	False	False	False	False	False	Q01484_3284_T
Q08289	CACNB2	556	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007575757575757576	Voltage-dependent L-type calcium channel subunit b	S557L	False	False	False	False	False	Q08289_556_L
Q07699	SCN1B	84	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03211009174311927	Sodium channel regulatory subunit beta-1	R85C	False	True	False	True	False	Q07699_84_C
Q15031	LARS2	152	N	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	N153H	False	False	False	False	False	Q15031_152_H
P61764	STXBP1	291	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R292C	False	True	False	True	False	P61764_291_C
Q92736	RYR2	3460	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	M3461V	False	False	False	False	False	Q92736_3460_V
Q01484	ANK2	3151	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011119535001263583	Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non	T3152A	False	False	False	False	False	Q01484_3151_A
Q99996	AKAP9	46	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	H47Y	True	False	False	False	True	Q99996_46_Y
Q99996	AKAP9	457	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	A458P	False	False	False	False	False	Q99996_457_P
Q99996	AKAP9	1506	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	D1507H	False	False	False	False	False	Q99996_1506_H
Q99996	AKAP9	2185	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	S2186P	False	False	False	False	False	Q99996_2185_P
Q99996	AKAP9	3030	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	Q3031R	False	False	False	False	False	Q99996_3030_R
Q99996	AKAP9	3757	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	R3758H	False	False	False	False	False	Q99996_3757_H
Q08289	CACNB2	605	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007575757575757576	Voltage-dependent L-type calcium channel subunit b	R606G	False	False	False	False	False	Q08289_605_G
Q13424	SNTA1	105	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011881188118811881	Alpha-1-syntrophin (59 kDa dystrophin-associated p	R106Q	False	False	False	False	False	Q13424_105_Q
P49810	PSEN2	70	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020089285714285716	Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E	R71W	False	False	False	False	False	P49810_70_W
P35609	ACTN2	475	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A476T	False	False	False	False	False	P35609_475_T
Q8WZ42	TTN	12225	K	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	K12226E	False	False	False	False	False	Q8WZ42_12225_E
P15924	DSP	1098	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K1099N	False	False	False	False	False	P15924_1098_N
Q86TC9	MYPN	1140	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	A1141T	False	False	False	False	False	Q86TC9_1140_T
Q86TC9	MYPN	1281	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	S1282R	False	False	False	False	False	Q86TC9_1281_R
P18206	VCL	942	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008818342151675485	Vinculin (Metavinculin) (MV)	P943A	False	False	False	False	False	P18206_942_A
P13533	MYH6	735	Q	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	Q736K	False	False	False	False	False	P13533_735_K
Q14126	DSG2	855	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	K856N	False	False	False	False	False	Q14126_855_N
Q96L12	CALR3	283	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Calreticulin-3 (Calreticulin-2) (Calsperin)	D284N	False	False	False	False	False	Q96L12_283_N
Q96L12	CALR3	273	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Calreticulin-3 (Calreticulin-2) (Calsperin)	V274I	False	False	False	False	False	Q96L12_273_I
Q9NZC2	TREM2	65	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	T66M	False	False	False	False	False	Q9NZC2_65_M
Q9NZC2	TREM2	37	Y	C	1	ClinVar	criteria provided, single submitter	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	Y38C	True	True	False	True	True	Q9NZC2_37_C
Q05639	EEF1A2	121	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	E122K	False	False	False	False	False	Q05639_121_K
P12111	COL6A3	3042	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R3043H	False	False	False	False	False	P12111_3042_H
P12111	COL6A3	3081	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	P3082R	False	False	False	False	False	P12111_3081_R
Q96D31	ORAI1	193	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009966777408637873	Calcium release-activated calcium channel protein 	L194P	False	False	False	False	False	Q96D31_193_P
Q9UQD0	SCN8A	983	N	K	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N984K	False	False	False	False	False	Q9UQD0_983_K
Q9UQD0	SCN8A	1450	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G1451S	False	False	False	False	False	Q9UQD0_1450_S
Q00577	PURA	0	M	L	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	M1L	True	False	False	False	True	Q00577_0_L
Q00577	PURA	187	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	I188T	False	False	False	False	False	Q00577_187_T
A6NFY7	SDHAF1	89	C	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008695652173913044	Succinate dehydrogenase assembly factor 1, mitocho	C90S	False	False	True	True	False	A6NFY7_89_S
Q9UQ90	SPG7	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M1V	True	False	False	False	True	Q9UQ90_0_V
O60741	HCN1	46	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G47V	True	False	False	False	True	O60741_46_V
Q14315	FLNC	525	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R526Q	False	False	False	False	False	Q14315_525_Q
P20929	NEB	287	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K288R	False	False	False	False	False	P20929_287_R
P20929	NEB	304	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D305G	False	False	False	False	False	P20929_304_G
O95140	MFN2	382	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A383V	False	False	False	False	False	O95140_382_V
Q13813	SPTAN1	503	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A504V	False	False	False	False	False	Q13813_503_V
O95140	MFN2	392	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M393I	False	False	False	False	False	O95140_392_I
P20929	NEB	7634	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	G7635E	False	False	False	False	False	P20929_7634_E
P20929	NEB	7866	K	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K7867Q	False	False	False	False	False	P20929_7866_Q
Q9UQD0	SCN8A	762	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I763V	False	False	False	False	False	Q9UQD0_762_V
O76039	CDKL5	747	N	S	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N748S	False	False	False	False	False	O76039_747_S
Q99250	SCN2A	852	R	Q	1	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R853Q	False	False	False	False	False	Q99250_852_Q
P12111	COL6A3	2079	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2080D	False	False	False	False	False	P12111_2079_D
P11532	DMD	753	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	G754V	False	False	False	False	False	P11532_753_V
Q9NY46	SCN3A	1083	V	I	0	ClinVar	reviewed by expert panel	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	V1084I	False	False	False	False	False	Q9NY46_1083_I
Q9ULP9	TBC1D24	7	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	C8R	True	False	True	True	True	Q9ULP9_7_R
Q9ULP9	TBC1D24	261	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	S262L	False	False	False	True	False	Q9ULP9_261_L
P54098	POLG	44	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Q45R	True	False	False	False	True	P54098_44_R
Q13144	EIF2B5	105	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	L106F	False	False	False	False	False	Q13144_105_F
Q9NZC2	TREM2	46	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	R47H	True	False	False	False	True	Q9NZC2_46_H
O00555	CACNA1A	1136	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1137A	False	False	False	False	False	O00555_1136_A
P11532	DMD	858	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T859S	False	False	False	False	False	P11532_858_S
Q9UQD0	SCN8A	1322	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1323T	False	False	False	False	False	Q9UQD0_1322_T
P11532	DMD	990	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	E991Q	False	False	False	False	False	P11532_990_Q
Q9UKX2	MYH2	969	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	V970I	False	False	False	False	False	Q9UKX2_969_I
O00555	CACNA1A	1391	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1392M	False	False	False	False	False	O00555_1391_M
P12110	COL6A2	777	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	D778N	False	False	False	False	False	P12110_777_N
Q99250	SCN2A	1881	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1882Q	False	False	False	False	False	Q99250_1881_Q
P12110	COL6A2	894	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	S895R	False	False	False	False	False	P12110_894_R
P12110	COL6A2	981	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	M982V	False	False	False	False	False	P12110_981_V
P68133	ACTA1	47	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G48S	True	False	False	False	True	P68133_47_S
O43914	TYROBP	54	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02654867256637168	TYRO protein tyrosine kinase-binding protein (DNAX	V55L	False	False	False	False	False	O43914_54_L
Q9NZC2	TREM2	156	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	H157Y	False	False	False	False	False	Q9NZC2_156_Y
Q9H061	TMEM126A	51	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020512820512820513	Transmembrane protein 126A	S52G	False	False	False	False	False	Q9H061_51_G
Q14315	FLNC	1680	T	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T1681R	False	False	False	False	False	Q14315_1680_R
Q13813	SPTAN1	1427	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A1428G	False	False	False	False	False	Q13813_1427_G
Q14315	FLNC	1859	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1860C	False	True	False	True	False	Q14315_1859_C
P12109	COL6A1	955	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	E956K	False	False	False	False	False	P12109_955_K
P12111	COL6A3	2482	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	K2483E	False	False	False	False	False	P12111_2482_E
Q13698	CACNA1S	1538	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R1539C	False	True	False	True	False	Q13698_1538_C
Q9Y223	GNE	245	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R246W	False	False	False	False	False	Q9Y223_245_W
Q9UKX2	MYH2	1926	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	R1927Q	False	False	False	False	False	Q9UKX2_1926_Q
Q14315	FLNC	2363	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R2364H	False	False	False	False	False	Q14315_2363_H
P11532	DMD	2190	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2191W	False	False	False	False	False	P11532_2190_W
P11532	DMD	2243	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	Q2244H	False	False	False	False	False	P11532_2243_H
O43526	KCNQ2	264	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A265T	False	False	False	False	False	O43526_264_T
P21817	RYR1	2775	S	F	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	S2776F	False	False	False	False	False	P21817_2775_F
Q8TAB3	PCDH19	1133	N	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N1134H	False	False	False	False	False	Q8TAB3_1133_H
P12111	COL6A3	676	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R677H	False	False	False	False	False	P12111_676_H
P20929	NEB	3487	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	R3488H	False	False	False	False	False	P20929_3487_H
P05166	PCCB	227	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	P228L	False	False	False	False	False	P05166_227_L
P12110	COL6A2	291	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G292V	False	False	False	False	False	P12110_291_V
O76024	WFS1	557	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	R558C	False	True	False	True	False	O76024_557_C
P11166	SLC2A1	332	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R333W	False	False	False	False	False	P11166_332_W
P20929	NEB	5962	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	V5963I	False	False	False	False	False	P20929_5962_I
P61764	STXBP1	234	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R235Q	False	False	False	False	False	P61764_234_Q
P12111	COL6A3	1292	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	D1293E	False	False	False	False	False	P12111_1292_E
P12111	COL6A3	1372	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A1373T	False	False	False	False	False	P12111_1372_T
O95140	MFN2	297	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	G298R	False	False	False	False	False	O95140_297_R
O76039	CDKL5	156	A	V	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A157V	False	False	False	False	False	O76039_156_V
P02545	LMNA	290	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E291K	False	False	False	False	False	P02545_290_K
Q13698	CACNA1S	682	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R683C	False	True	False	True	False	Q13698_682_C
Q92736	RYR2	419	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	R420W	False	False	False	False	False	Q92736_419_W
Q92736	RYR2	2641	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	R2642K	False	False	False	False	False	Q92736_2641_K
Q92736	RYR2	3977	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	M3978I	False	False	False	False	False	Q92736_3977_I
Q92736	RYR2	4762	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	N4763S	False	False	False	False	False	Q92736_4762_S
P15924	DSP	2106	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V2107L	False	False	False	False	False	P15924_2106_L
Q02487	DSC2	878	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	D879G	False	False	False	False	False	Q02487_878_G
Q02487	DSC2	596	V	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	V597F	False	False	False	False	False	Q02487_596_F
Q02487	DSC2	11	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	G12R	True	False	False	False	True	Q02487_11_R
Q14126	DSG2	916	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	A917V	False	False	False	False	False	Q14126_916_V
Q14126	DSG2	1039	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	V1040I	False	False	False	False	False	Q14126_1039_I
P21817	RYR1	850	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	V851M	False	False	False	False	False	P21817_850_M
P35609	ACTN2	582	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	E583G	False	False	False	False	False	P35609_582_G
Q0ZGT2	NEXN	539	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	M540V	False	False	False	False	False	Q0ZGT2_539_V
Q9BTV4	TMEM43	298	R	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	R299T	False	False	False	False	False	Q9BTV4_298_T
Q5T481	RBM20	483	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	T484I	False	False	False	False	False	Q5T481_483_I
O95817	BAG3	299	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	D300N	False	False	False	False	False	O95817_299_N
O76041	NEBL	612	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	R613Q	False	False	False	False	False	O76041_612_Q
Q86TC9	MYPN	742	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	P743L	False	False	False	False	False	Q86TC9_742_L
Q86TC9	MYPN	745	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	T746A	False	False	False	False	False	Q86TC9_745_A
O75112	LDB3	358	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	D359N	False	False	False	False	False	O75112_358_N
Q13418	ILK	21	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01991150442477876	Scaffold protein ILK (ILK-1) (ILK-2) (Inactive int	N22S	True	False	False	False	True	Q13418_21_S
Q13418	ILK	144	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01991150442477876	Scaffold protein ILK (ILK-1) (ILK-2) (Inactive int	R145S	False	False	False	False	False	Q13418_144_S
Q99959	PKP2	387	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	R388W	False	False	False	False	False	Q99959_387_W
Q9H1R3	MYLK2	93	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016778523489932886	Myosin light chain kinase 2, skeletal/cardiac musc	P94L	False	False	False	False	False	Q9H1R3_93_L
Q9BR39	JPH2	285	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	T286A	False	False	False	False	False	Q9BR39_285_A
Q9BR39	JPH2	190	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	P191R	False	False	False	False	False	Q9BR39_190_R
P11532	DMD	2769	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	D2770N	False	False	False	False	False	P11532_2769_N
P11532	DMD	2490	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	Q2491R	False	False	False	False	False	P11532_2490_R
P11532	DMD	629	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T630A	False	False	False	False	False	P11532_629_A
P11532	DMD	555	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	D556N	False	False	False	False	False	P11532_555_N
P11532	DMD	342	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R343H	False	False	False	False	False	P11532_342_H
O95140	MFN2	248	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S249F	False	False	False	False	False	O95140_248_F
P08559	PDHA1	140	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R141Q	False	False	False	True	False	P08559_140_Q
Q8WZ42	TTN	2013	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T2014I	False	False	False	False	False	Q8WZ42_2013_I
Q8WZ42	TTN	1958	F	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	F1959I	False	False	False	False	False	Q8WZ42_1958_I
Q8WZ42	TTN	921	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R922C	False	True	False	True	False	Q8WZ42_921_C
Q8WZ42	TTN	769	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	Q770H	False	False	False	False	False	Q8WZ42_769_H
P23786	CPT2	230	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	R231W	False	False	False	False	False	P23786_230_W
P23786	CPT2	503	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	P504L	False	False	False	False	False	P23786_503_L
P23786	CPT2	587	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	S588C	False	True	False	True	False	P23786_587_C
P55084	HADHB	276	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	K277R	False	False	False	False	False	P55084_276_R
P53597	SUCLG1	283	S	F	1	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	S284F	False	False	False	False	False	P53597_283_F
P53597	SUCLG1	258	G	D	1	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	G259D	False	False	False	False	False	P53597_258_D
P53597	SUCLG1	79	T	P	1	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	T80P	False	False	False	False	False	P53597_79_P
P09622	DLD	60	A	V	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	A61V	False	False	False	False	False	P09622_60_V
P09622	DLD	61	Q	R	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	Q62R	False	False	False	False	False	P09622_61_R
P09622	DLD	275	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	T276S	False	False	False	False	False	P09622_275_S
Q9BUB7	TMEM70	192	T	I	1	ClinVar	criteria provided, single submitter	0.011538461538461539	Transmembrane protein 70, mitochondrial	T193I	False	False	False	False	False	Q9BUB7_192_I
P11498	PC	907	T	M	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	T908M	False	False	False	False	False	P11498_907_M
P11498	PC	885	K	R	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	K886R	False	False	False	False	False	P11498_885_R
P11498	PC	506	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	V507I	False	False	False	False	False	P11498_506_I
P11498	PC	265	S	Y	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	S266Y	False	False	False	False	False	P11498_265_Y
P11498	PC	28	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	V29I	True	False	False	False	True	P11498_28_I
P11498	PC	4	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R5Q	True	False	False	False	True	P11498_4_Q
P05165	PCCA	48	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R49C	True	True	False	True	True	P05165_48_C
P05165	PCCA	141	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G142D	False	False	False	False	False	P05165_141_D
P05165	PCCA	630	G	R	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G631R	False	False	False	False	False	P05165_630_R
Q9P2R7	SUCLA2	318	G	R	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	G319R	False	False	False	False	False	Q9P2R7_318_R
Q9P2R7	SUCLA2	270	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	M271V	False	False	False	False	False	Q9P2R7_270_V
Q9P2R7	SUCLA2	229	P	S	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	P230S	False	False	False	False	False	Q9P2R7_229_S
Q9P2R7	SUCLA2	159	R	Q	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	R160Q	False	False	False	False	False	Q9P2R7_159_Q
Q9P2R7	SUCLA2	72	K	N	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	K73N	False	False	False	False	False	Q9P2R7_72_N
Q9P2R7	SUCLA2	21	R	W	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	R22W	True	False	False	False	True	Q9P2R7_21_W
P49748	ACADVL	458	R	Q	1	ClinVar	reviewed by expert panel	0.010687022900763359	Very long-chain specific acyl-CoA dehydrogenase, m	R459Q	False	False	False	False	False	P49748_458_Q
Q15031	LARS2	637	E	K	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	E638K	False	False	False	False	False	Q15031_637_K
Q8WYQ3	CHCHD10	33	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	P34S	True	False	False	False	True	Q8WYQ3_33_S
Q99715	COL12A1	2333	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	I2334T	False	False	False	False	False	Q99715_2333_T
Q99715	COL12A1	2785	G	D	1	ClinVar	no assertion criteria provided	0.0068560235063663075	Collagen alpha-1(XII) chain	G2786D	False	False	False	False	False	Q99715_2785_D
A2RRP1	NBAS	1054	L	P	1	ClinVar	criteria provided, single submitter	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	L1055P	False	False	False	False	False	A2RRP1_1054_P
P50993	ATP1A2	363	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	T364M	False	False	False	False	False	P50993_363_M
P50993	ATP1A2	500	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	V501M	False	False	False	False	False	P50993_500_M
P50993	ATP1A2	812	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	M813K	False	False	False	False	False	P50993_812_K
P11166	SLC2A1	399	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R400C	False	True	False	True	False	P11166_399_C
P11166	SLC2A1	323	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	S324L	False	False	False	False	False	P11166_323_L
P11166	SLC2A1	294	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	T295M	False	False	False	False	False	P11166_294_M
P11166	SLC2A1	222	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R223W	False	False	False	False	False	P11166_222_W
P11166	SLC2A1	152	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R153L	False	False	False	False	False	P11166_152_L
P11166	SLC2A1	45	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	Q46H	True	False	False	False	True	P11166_45_H
Q99250	SCN2A	23	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A24T	True	False	False	False	True	Q99250_23_T
Q99250	SCN2A	27	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R28C	True	True	False	True	True	Q99250_27_C
Q99250	SCN2A	215	L	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L216W	False	False	False	False	False	Q99250_215_W
Q99250	SCN2A	283	D	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D284G	False	False	False	False	False	Q99250_283_G
Q99250	SCN2A	327	F	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F328V	False	False	False	False	False	Q99250_327_V
Q99250	SCN2A	382	Q	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q383E	False	False	False	False	False	Q99250_382_E
Q99250	SCN2A	422	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V423L	False	False	False	False	False	Q99250_422_L
Q99250	SCN2A	423	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V424A	False	False	False	False	False	Q99250_423_A
Q99250	SCN2A	429	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E430G	False	False	False	False	False	Q99250_429_G
Q99250	SCN2A	437	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E438K	False	False	False	False	False	Q99250_437_K
Q99250	SCN2A	658	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G659D	False	False	False	False	False	Q99250_658_D
Q99250	SCN2A	826	D	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D827G	False	False	False	False	False	Q99250_826_G
Q99250	SCN2A	878	G	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G879R	False	False	False	False	False	Q99250_878_R
Q99250	SCN2A	885	L	S	1	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L886S	False	False	False	False	False	Q99250_885_S
Q99250	SCN2A	898	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G899S	False	False	False	False	False	Q99250_898_S
Q99250	SCN2A	936	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R937C	False	True	False	True	False	Q99250_936_C
Q99250	SCN2A	986	S	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S987I	False	False	False	False	False	Q99250_986_I
Q99250	SCN2A	998	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E999K	False	False	False	False	False	Q99250_998_K
Q99250	SCN2A	1315	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1316V	False	False	False	False	False	Q99250_1315_V
Q99250	SCN2A	1332	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1333T	False	False	False	False	False	Q99250_1332_T
Q99250	SCN2A	1341	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1342P	False	False	False	False	False	Q99250_1341_P
Q99250	SCN2A	1345	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1346V	False	False	False	False	False	Q99250_1345_V
Q99250	SCN2A	1421	K	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K1422E	False	False	False	False	False	Q99250_1421_E
Q99250	SCN2A	1544	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1545V	False	False	False	False	False	Q99250_1544_V
Q99250	SCN2A	1625	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1626Q	False	False	False	False	False	Q99250_1625_Q
Q99250	SCN2A	1626	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1627M	False	False	False	False	False	Q99250_1626_M
Q99250	SCN2A	1628	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1629H	False	False	False	False	False	Q99250_1628_H
Q99250	SCN2A	1635	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1636M	False	False	False	False	False	Q99250_1635_M
Q99250	SCN2A	1772	A	T	1	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1773T	False	False	False	False	False	Q99250_1772_T
Q99250	SCN2A	1881	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1882G	False	False	False	False	False	Q99250_1881_G
P35498	SCN1A	1917	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1918F	False	False	False	False	False	P35498_1917_F
P35498	SCN1A	1873	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1874W	False	False	False	False	False	P35498_1873_W
P35498	SCN1A	1664	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1665I	False	False	False	False	False	P35498_1664_I
P35498	SCN1A	1647	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1648L	False	False	False	False	False	P35498_1647_L
P35498	SCN1A	1638	R	P	1	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1639P	False	False	False	False	False	P35498_1638_P
P35498	SCN1A	1618	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1619V	False	False	False	False	False	P35498_1618_V
P35498	SCN1A	1525	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1526R	False	False	False	False	False	P35498_1525_R
P35498	SCN1A	1453	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1454K	False	False	False	False	False	P35498_1453_K
P35498	SCN1A	1437	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1438T	False	False	False	False	False	P35498_1437_T
P35498	SCN1A	1432	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1433R	False	False	False	False	False	P35498_1432_R
P35498	SCN1A	1428	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1429T	False	False	False	False	False	P35498_1428_T
P35498	SCN1A	1338	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1339D	False	False	False	False	False	P35498_1338_D
P35498	SCN1A	1249	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1250M	False	False	False	False	False	P35498_1249_M
P35498	SCN1A	988	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A989V	False	False	False	False	False	P35498_988_V
P35498	SCN1A	933	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M934R	False	False	False	False	False	P35498_933_R
P35498	SCN1A	923	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A924T	False	False	False	False	False	P35498_923_T
P35498	SCN1A	792	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T793M	False	False	False	False	False	P35498_792_M
P35498	SCN1A	784	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M785T	False	False	False	False	False	P35498_784_T
P35498	SCN1A	757	K	Q	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	K758Q	False	False	False	False	False	P35498_757_Q
P35498	SCN1A	692	R	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R693M	False	False	False	False	False	P35498_692_M
P35498	SCN1A	425	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y426C	False	True	False	True	False	P35498_425_C
P35498	SCN1A	384	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E385K	False	False	False	False	False	P35498_384_K
P35498	SCN1A	328	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G329C	False	True	False	True	False	P35498_328_C
P35498	SCN1A	218	R	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R219T	False	False	False	False	False	P35498_218_T
P35498	SCN1A	200	A	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A201E	False	False	False	False	False	P35498_200_E
P35498	SCN1A	67	I	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I68S	False	False	False	False	False	P35498_67_S
P35498	SCN1A	22	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A23V	True	False	False	False	True	P35498_22_V
P18507	GABRG2	105	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	A106T	False	False	False	False	False	P18507_105_T
P18507	GABRG2	281	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	P282S	False	False	False	False	False	P18507_281_S
P18507	GABRG2	322	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	R323W	False	False	False	False	False	P18507_322_W
P61764	STXBP1	55	T	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	T56R	False	False	False	False	False	P61764_55_R
P61764	STXBP1	74	Y	C	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Y75C	False	True	False	True	False	P61764_74_C
P61764	STXBP1	93	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P94L	False	False	False	False	False	P61764_93_L
P61764	STXBP1	138	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P139L	False	False	False	False	False	P61764_138_L
P61764	STXBP1	189	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R190W	False	False	False	False	False	P61764_189_W
P61764	STXBP1	291	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R292H	False	False	False	False	False	P61764_291_H
P61764	STXBP1	353	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C354Y	False	False	True	True	False	P61764_353_Y
P61764	STXBP1	405	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R406C	False	True	False	True	False	P61764_405_C
P61764	STXBP1	457	R	H	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R458H	False	False	False	False	False	P61764_457_H
P61764	STXBP1	461	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P462L	False	False	False	False	False	P61764_461_L
P61764	STXBP1	479	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P480L	False	False	False	False	False	P61764_479_L
P61764	STXBP1	550	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R551S	False	False	False	False	False	P61764_550_S
P61764	STXBP1	550	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R551C	False	True	False	True	False	P61764_550_C
Q13813	SPTAN1	137	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M138T	False	False	False	False	False	Q13813_137_T
Q13813	SPTAN1	314	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	C315R	False	False	True	True	False	Q13813_314_R
Q13813	SPTAN1	453	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	E454D	False	False	False	False	False	Q13813_453_D
Q13813	SPTAN1	472	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Y473C	False	True	False	True	False	Q13813_472_C
Q13813	SPTAN1	562	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M563T	False	False	False	False	False	Q13813_562_T
Q13813	SPTAN1	781	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	D782N	False	False	False	False	False	Q13813_781_N
Q13813	SPTAN1	917	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Y918C	False	True	False	True	False	Q13813_917_C
Q13813	SPTAN1	1112	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A1113T	False	False	False	False	False	Q13813_1112_T
Q13813	SPTAN1	1172	Q	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q1173P	False	False	False	False	False	Q13813_1172_P
Q13813	SPTAN1	1267	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	V1268A	False	False	False	False	False	Q13813_1267_A
Q13224	GRIN2B	1355	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V1356M	False	False	False	False	False	Q13224_1355_M
Q13224	GRIN2B	1266	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1267S	False	False	False	False	False	Q13224_1266_S
Q13224	GRIN2B	1265	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1266L	False	False	False	False	False	Q13224_1265_L
Q13224	GRIN2B	619	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V620M	False	False	False	False	False	Q13224_619_M
Q13224	GRIN2B	610	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G611V	False	False	False	False	False	Q13224_610_V
Q13224	GRIN2B	589	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A590T	False	False	False	False	False	Q13224_589_T
Q13224	GRIN2B	270	A	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A271E	False	False	False	False	False	Q13224_270_E
Q13224	GRIN2B	63	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V64M	False	False	False	False	False	Q13224_63_M
Q13224	GRIN2B	20	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V21M	True	False	False	False	True	Q13224_20_M
Q13224	GRIN2B	17	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V18I	True	False	False	False	True	Q13224_17_I
Q9UQD0	SCN8A	204	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A205E	False	False	False	False	False	Q9UQD0_204_E
Q9UQD0	SCN8A	844	S	F	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S845F	False	False	False	False	False	Q9UQD0_844_F
Q9UQD0	SCN8A	1318	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1319S	False	False	False	False	False	Q9UQD0_1318_S
Q9UQD0	SCN8A	1474	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G1475R	False	False	False	False	False	Q9UQD0_1474_R
Q9UQD0	SCN8A	1478	I	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1479V	False	False	False	False	False	Q9UQD0_1478_V
Q9UQD0	SCN8A	1480	M	K	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1481K	False	False	False	False	False	Q9UQD0_1480_K
Q9UQD0	SCN8A	1649	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1650V	False	False	False	False	False	Q9UQD0_1649_V
Q9UQD0	SCN8A	1871	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1872W	False	False	False	False	False	Q9UQD0_1871_W
Q9UQD0	SCN8A	1871	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1872L	False	False	False	False	False	Q9UQD0_1871_L
P54098	POLG	1135	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	E1136K	False	False	False	False	False	P54098_1135_K
P54098	POLG	1104	A	P	1	ClinVar	reviewed by expert panel	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A1105P	False	False	False	False	False	P54098_1104_P
P54098	POLG	1095	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R1096L	False	False	False	False	False	P54098_1095_L
P54098	POLG	1095	R	C	1	ClinVar	reviewed by expert panel	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R1096C	False	True	False	True	False	P54098_1095_C
P54098	POLG	1095	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R1096G	False	False	False	False	False	P54098_1095_G
P54098	POLG	946	K	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	K947R	False	False	False	False	False	P54098_946_R
P54098	POLG	916	G	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G917R	False	False	False	False	False	P54098_916_R
P54098	POLG	853	A	D	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A854D	False	False	False	False	False	P54098_853_D
P54098	POLG	852	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R853Q	False	False	False	False	False	P54098_852_Q
P54098	POLG	851	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R852C	False	True	False	True	False	P54098_851_C
P54098	POLG	806	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R807H	False	False	False	False	False	P54098_806_H
P54098	POLG	647	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	P648R	False	False	False	False	False	P54098_647_R
P54098	POLG	304	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S305R	False	False	False	False	False	P54098_304_R
P54098	POLG	142	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A143V	False	False	False	False	False	P54098_142_V
Q9ULP9	TBC1D24	152	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	E153K	False	False	False	True	False	Q9ULP9_152_K
Q9ULP9	TBC1D24	226	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R227L	False	False	False	True	False	Q9ULP9_226_L
Q9ULP9	TBC1D24	281	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	P282R	False	False	False	True	False	Q9ULP9_281_R
Q96T60	PNKP	440	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01727447216890595	Bifunctional polynucleotide phosphatase/kinase (DN	A441G	False	False	False	False	False	Q96T60_440_G
O43526	KCNQ2	776	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P777R	False	False	False	False	False	O43526_776_R
O43526	KCNQ2	755	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G756S	False	False	False	False	False	O43526_755_S
O43526	KCNQ2	688	I	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I689L	False	False	False	False	False	O43526_688_L
O43526	KCNQ2	610	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A611V	False	False	False	False	False	O43526_610_V
O43526	KCNQ2	577	M	I	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M578I	False	False	False	False	False	O43526_577_I
O43526	KCNQ2	573	G	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G574D	False	False	False	False	False	O43526_573_D
O43526	KCNQ2	562	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D563N	False	False	False	False	False	O43526_562_N
O43526	KCNQ2	560	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P561L	False	False	False	False	False	O43526_560_L
O43526	KCNQ2	559	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R560W	False	False	False	False	False	O43526_559_W
O43526	KCNQ2	555	K	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K556E	False	False	False	False	False	O43526_555_E
O43526	KCNQ2	552	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R553W	False	False	False	False	False	O43526_552_W
O43526	KCNQ2	546	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R547W	False	False	False	False	False	O43526_546_W
O43526	KCNQ2	417	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G418V	False	False	False	False	False	O43526_417_V
O43526	KCNQ2	352	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R353H	False	False	False	False	False	O43526_352_H
O43526	KCNQ2	352	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R353C	False	True	False	True	False	O43526_352_C
O43526	KCNQ2	336	A	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A337G	False	False	False	False	False	O43526_336_G
O43526	KCNQ2	334	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P335L	False	False	False	False	False	O43526_334_L
O43526	KCNQ2	331	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R332K	False	False	False	False	False	O43526_331_K
O43526	KCNQ2	305	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A306P	False	False	False	False	False	O43526_305_P
O43526	KCNQ2	304	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F305L	False	False	False	False	False	O43526_304_L
O43526	KCNQ2	293	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A294V	False	False	False	False	False	O43526_293_V
O43526	KCNQ2	281	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D282N	False	False	False	False	False	O43526_281_N
O43526	KCNQ2	246	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S247L	False	False	False	False	False	O43526_246_L
O43526	KCNQ2	209	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R210C	False	True	False	True	False	O43526_209_C
O43526	KCNQ2	200	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R201C	False	True	False	True	False	O43526_200_C
O43526	KCNQ2	197	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R198Q	False	False	False	False	False	O43526_197_Q
O43526	KCNQ2	194	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S195P	False	False	False	False	False	O43526_194_P
O43526	KCNQ2	143	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R144Q	False	False	False	False	False	O43526_143_Q
O43526	KCNQ2	126	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y127C	False	True	False	True	False	O43526_126_C
O43526	KCNQ2	61	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A62V	False	False	False	False	False	O43526_61_V
Q8TAB3	PCDH19	1138	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	G1139S	False	False	False	False	False	Q8TAB3_1138_S
Q8TAB3	PCDH19	957	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	R958Q	False	False	False	False	False	Q8TAB3_957_Q
Q8TAB3	PCDH19	674	V	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	V675G	False	False	False	False	False	Q8TAB3_674_G
Q8TAB3	PCDH19	539	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	L540F	False	False	False	False	False	Q8TAB3_539_F
Q8TAB3	PCDH19	431	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	M432V	False	False	False	False	False	Q8TAB3_431_V
Q8TAB3	PCDH19	371	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	R372W	False	False	False	False	False	Q8TAB3_371_W
Q8TAB3	PCDH19	343	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P344L	False	False	False	False	False	Q8TAB3_343_L
Q8TAB3	PCDH19	339	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N340S	False	False	False	False	False	Q8TAB3_339_S
Q8TAB3	PCDH19	231	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N232S	False	False	False	False	False	Q8TAB3_231_S
Q8TAB3	PCDH19	145	T	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	T146R	False	False	False	False	False	Q8TAB3_145_R
Q8TAB3	PCDH19	122	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N123K	False	False	False	False	False	Q8TAB3_122_K
P35523	CLCN1	549	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	T550M	False	False	False	False	False	P35523_549_M
Q9UQD0	SCN8A	766	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	T767I	False	False	False	False	False	Q9UQD0_766_I
Q9UM47	NOTCH3	152	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R153C	False	True	False	True	False	Q9UM47_152_C
P49770	EIF2B2	199	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	G200V	False	False	False	False	False	P49770_199_V
P63267	ACTG2	256	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R257H	False	False	False	False	False	P63267_256_H
Q13224	GRIN2B	819	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G820A	False	False	False	False	False	Q13224_819_A
P02462	COL4A1	831	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G832R	False	False	False	False	False	P02462_831_R
P09471	GNAO1	208	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R209H	False	False	False	False	False	P09471_208_H
P09471	GNAO1	245	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	E246K	False	False	False	False	False	P09471_245_K
Q3ZCQ8	TIMM50	268	G	S	1	ClinVar	criteria provided, single submitter	0.0113314447592068	Mitochondrial import inner membrane translocase su	G269S	False	False	False	False	False	Q3ZCQ8_268_S
P13637	ATP1A3	323	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	E324G	False	False	False	False	False	P13637_323_G
P60880	SNAP25	47	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	V48F	True	False	False	False	True	P60880_47_F
O43526	KCNQ2	230	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	E231D	False	False	False	False	False	O43526_230_D
O15239	NDUFA1	42	Y	H	1	ClinVar	criteria provided, single submitter	0.014285714285714285	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	Y43H	True	False	False	False	True	O15239_42_H
P08559	PDHA1	261	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V262I	False	False	False	True	False	P08559_261_I
Q3ZAQ7	VMA21	90	G	A	1	ClinVar	criteria provided, single submitter	0.0	Vacuolar ATPase assembly integral membrane protein	G91A	False	False	False	False	False	Q3ZAQ7_90_A
Q9Y2Z4	YARS2	250	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	I251V	False	False	False	False	False	Q9Y2Z4_250_V
Q8TB37	NUBPL	103	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012539184952978056	Iron-sulfur cluster transfer protein NUBPL (IND1 h	L104P	False	False	False	False	False	Q8TB37_103_P
P06753	TPM3	244	R	I	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R245I	False	False	False	False	False	P06753_244_I
P06753	TPM3	30	K	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	K31T	True	False	False	False	True	P06753_30_T
Q8NI60	COQ8A	510	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	T511M	False	False	False	False	False	Q8NI60_510_M
Q99250	SCN2A	855	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R856Q	False	False	False	False	False	Q99250_855_Q
Q99250	SCN2A	1613	L	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1614P	False	False	False	False	False	Q99250_1613_P
P35498	SCN1A	1778	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1779S	False	False	False	False	False	P35498_1778_S
P09471	GNAO1	226	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	A227V	False	False	False	False	False	P09471_226_V
O43526	KCNQ2	234	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A235V	False	False	False	False	False	O43526_234_V
P12110	COL6A2	297	G	R	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G298R	False	False	False	False	False	P12110_297_R
Q16363	LAMA4	224	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	A225V	False	False	False	False	False	Q16363_224_V
Q16363	LAMA4	28	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	D29H	True	False	False	False	True	Q16363_28_H
O95140	MFN2	104	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T105M	False	False	False	False	False	O95140_104_M
O75306	NDUFS2	9	F	L	0	ClinVar	criteria provided, single submitter	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	F10L	True	False	False	False	True	O75306_9_L
Q8NI60	COQ8A	79	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	H80Y	False	False	False	False	False	Q8NI60_79_Y
Q8NI60	COQ8A	99	D	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	D100Y	False	False	False	False	False	Q8NI60_99_Y
Q8NI60	COQ8A	128	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	G129R	False	False	False	False	False	Q8NI60_128_R
Q8NI60	COQ8A	148	P	S	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	P149S	False	False	False	False	False	Q8NI60_148_S
Q8NI60	COQ8A	165	D	G	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	D166G	False	False	False	False	False	Q8NI60_165_G
Q8NI60	COQ8A	342	Q	R	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	Q343R	False	False	False	False	False	Q8NI60_342_R
Q8NI60	COQ8A	464	N	H	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	N465H	False	False	False	False	False	Q8NI60_464_H
Q5RI15	COX20	2	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	A3S	True	False	False	True	True	Q5RI15_2_S
P10809	HSPD1	132	K	E	1	ClinVar	criteria provided, single submitter	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	K133E	False	False	False	False	False	P10809_132_E
Q96GW9	MARS2	48	T	A	1	ClinVar	criteria provided, single submitter	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	T49A	True	False	False	False	True	Q96GW9_48_A
Q96GW9	MARS2	240	V	I	0	ClinVar	criteria provided, single submitter	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	V241I	False	False	False	False	False	Q96GW9_240_I
P28331	NDUFS1	702	A	T	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	A703T	False	False	False	False	False	P28331_702_T
P28331	NDUFS1	599	E	D	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	E600D	False	False	False	False	False	P28331_599_D
P28331	NDUFS1	575	G	E	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	G576E	False	False	False	False	False	P28331_575_E
P28331	NDUFS1	565	I	F	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	I566F	False	False	False	False	False	P28331_565_F
Q9NYY8	FASTKD2	363	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023943661971830985	FAST kinase domain-containing protein 2, mitochond	D364N	False	False	False	False	False	Q9NYY8_363_N
Q9NYY8	FASTKD2	395	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023943661971830985	FAST kinase domain-containing protein 2, mitochond	N396S	False	False	False	False	False	Q9NYY8_395_S
Q9Y276	BCS1L	68	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R69C	False	True	False	True	False	Q9Y276_68_C
Q9Y276	BCS1L	89	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R90H	False	False	False	False	False	Q9Y276_89_H
Q9Y276	BCS1L	108	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R109W	False	False	False	False	False	Q9Y276_108_W
Q9Y276	BCS1L	167	M	I	0	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	M168I	False	False	False	False	False	Q9Y276_167_I
O95299	NDUFA10	71	K	R	0	ClinVar	criteria provided, single submitter	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	K72R	False	False	False	False	False	O95299_71_R
O95299	NDUFA10	64	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	N65S	False	False	False	False	False	O95299_64_S
P42704	LRPPRC	1269	A	V	1	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A1270V	False	False	False	False	False	P42704_1269_V
P42704	LRPPRC	1225	I	M	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	I1226M	False	False	False	False	False	P42704_1225_M
P42704	LRPPRC	1198	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	N1199D	False	False	False	False	False	P42704_1198_D
P42704	LRPPRC	807	L	W	1	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	L808W	False	False	False	False	False	P42704_807_W
P42704	LRPPRC	638	I	V	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	I639V	False	False	False	False	False	P42704_638_V
P42704	LRPPRC	509	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A510G	False	False	False	False	False	P42704_509_G
P42704	LRPPRC	394	K	R	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	K395R	False	False	False	False	False	P42704_394_R
P42704	LRPPRC	87	M	L	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	M88L	False	False	False	False	False	P42704_87_L
P42704	LRPPRC	36	A	T	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A37T	True	False	False	False	True	P42704_36_T
P42704	LRPPRC	31	G	R	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	G32R	True	False	False	False	True	P42704_31_R
Q9UMS0	NFU1	50	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	A51S	False	False	False	False	False	Q9UMS0_50_S
Q16854	DGUOK	271	T	N	0	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	T272N	False	False	False	False	False	Q16854_271_N
Q9H845	ACAD9	3	C	F	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	C4F	True	False	True	True	True	Q9H845_3_F
Q96RP9	GFM1	0	M	I	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	M1I	True	False	False	False	True	Q96RP9_0_I
Q96RP9	GFM1	25	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	K26R	True	False	False	False	True	Q96RP9_25_R
Q96RP9	GFM1	229	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	G230S	False	False	False	False	False	Q96RP9_229_S
Q96RP9	GFM1	243	A	V	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	A244V	False	False	False	False	False	Q96RP9_243_V
Q96RP9	GFM1	393	R	Q	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	R394Q	False	False	False	False	False	Q96RP9_393_Q
Q96RP9	GFM1	670	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	R671C	False	True	False	True	False	Q96RP9_670_C
O60313	OPA1	450	L	H	1	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	L451H	False	False	False	False	False	O60313_450_H
P11177	PDHB	139	V	E	1	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	V140E	False	False	False	False	False	P11177_139_E
P11177	PDHB	2	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	A3V	True	False	False	False	True	P11177_2_V
P12235	SLC25A4	163	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	I164V	False	False	False	False	False	P12235_163_V
P12235	SLC25A4	166	S	T	0	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	S167T	False	False	False	False	False	P12235_166_T
P12235	SLC25A4	277	V	M	1	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	V278M	False	False	False	False	False	P12235_277_M
Q96H96	COQ2	342	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	V343A	False	False	False	False	False	Q96H96_342_A
Q96H96	COQ2	45	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	P46L	True	False	False	False	True	Q96H96_45_L
O43678	NDUFA2	44	K	T	1	ClinVar	criteria provided, single submitter	0.020202020202020204	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	K45T	True	False	False	False	True	O43678_44_T
O75380	NDUFS6	101	N	I	1	ClinVar	criteria provided, single submitter	0.04838709677419355	NADH dehydrogenase [ubiquinone] iron-sulfur protei	N102I	False	False	False	True	False	O75380_101_I
O43181	NDUFS4	129	T	S	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] iron-sulfur protei	T130S	False	False	False	False	False	O43181_129_S
Q8N183	NDUFAF2	161	R	Q	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R162Q	False	False	False	False	False	Q8N183_161_Q
Q86YH6	PDSS2	291	K	E	1	ClinVar	criteria provided, single submitter	0.015037593984962405	All trans-polyprenyl-diphosphate synthase PDSS2 (A	K292E	False	False	False	False	False	Q86YH6_291_E
Q96JX3	SERAC1	86	N	Y	0	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	N87Y	False	False	False	False	False	Q96JX3_86_Y
Q96JX3	SERAC1	20	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	P21L	True	False	False	False	True	Q96JX3_20_L
Q5JTZ9	AARS2	549	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	G550A	False	False	False	False	False	Q5JTZ9_549_A
Q5JTZ9	AARS2	198	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R199C	False	True	False	True	False	Q5JTZ9_198_C
O95363	FARS2	56	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	S57C	False	True	False	True	False	O95363_56_C
O95363	FARS2	134	H	D	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	H135D	False	False	False	False	False	O95363_134_D
O95363	FARS2	360	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	P361L	False	False	False	False	False	O95363_360_L
O95363	FARS2	418	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	R419C	False	True	False	True	False	O95363_418_C
Q5T160	RARS2	444	Y	C	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	Y445C	False	True	False	True	False	Q5T160_444_C
Q5T160	RARS2	406	N	K	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	N407K	False	False	False	False	False	Q5T160_406_K
Q5T160	RARS2	257	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	R258C	False	True	False	True	False	Q5T160_257_C
Q5T160	RARS2	139	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	F140C	False	True	False	True	False	Q5T160_139_C
Q5T160	RARS2	65	K	E	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	K66E	False	False	False	False	False	Q5T160_65_E
Q5T160	RARS2	51	K	R	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	K52R	False	False	False	False	False	Q5T160_51_R
Q9P032	NDUFAF4	79	Q	K	0	ClinVar	criteria provided, single submitter	0.005714285714285714	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	Q80K	False	False	False	False	False	Q9P032_79_K
Q53H12	AGK	0	M	I	1	ClinVar	criteria provided, single submitter	0.018957345971563982	Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.	M1I	True	False	False	False	True	Q53H12_0_I
Q53H12	AGK	5	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018957345971563982	Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.	K6R	True	False	False	False	True	Q53H12_5_R
Q53H12	AGK	283	A	V	0	ClinVar	criteria provided, single submitter	0.018957345971563982	Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.	A284V	False	False	False	False	False	Q53H12_283_V
Q53H12	AGK	350	R	P	0	ClinVar	criteria provided, single submitter	0.018957345971563982	Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.	R351P	False	False	False	False	False	Q53H12_350_P
Q7LG56	RRM2B	199	G	E	1	ClinVar	criteria provided, single submitter	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	G200E	False	False	False	False	False	Q7LG56_199_E
Q7LG56	RRM2B	69	D	Y	1	ClinVar	criteria provided, single submitter	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	D70Y	False	False	False	False	False	Q7LG56_69_Y
Q330K2	NDUFAF6	27	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	G28A	True	False	False	False	True	Q330K2_27_A
Q330K2	NDUFAF6	46	A	T	0	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	A47T	True	False	False	False	True	Q330K2_46_T
Q330K2	NDUFAF6	298	K	T	0	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	K299T	False	False	False	False	False	Q330K2_298_T
Q330K2	NDUFAF6	330	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	K331R	False	False	False	False	False	Q330K2_330_R
P14927	UQCRB	18	K	I	1	ClinVar	criteria provided, single submitter	0.0	Cytochrome b-c1 complex subunit 7 (Complex III sub	K19I	True	False	False	False	True	P14927_18_I
Q15526	SURF1	191	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	R192W	False	False	False	False	False	Q15526_191_W
Q96RR1	TWNK	369	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	F370L	False	False	False	False	False	Q96RR1_369_L
Q96RR1	TWNK	409	L	R	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	L410R	False	False	False	False	False	Q96RR1_409_R
Q7KZN9	COX15	51	Q	R	0	ClinVar	criteria provided, single submitter	0.014634146341463415	Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytoch	Q52R	False	False	False	False	False	Q7KZN9_51_R
Q96CU9	FOXRED1	435	G	D	1	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	G436D	False	False	False	False	False	Q96CU9_435_D
O00330	PDHX	444	F	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	F445V	False	False	False	False	False	O00330_444_V
O75489	NDUFS3	0	M	R	1	ClinVar	criteria provided, single submitter	0.007575757575757576	NADH dehydrogenase [ubiquinone] iron-sulfur protei	M1R	True	False	False	False	True	O75489_0_R
P49821	NDUFV1	38	D	G	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	D39G	True	False	False	False	True	P49821_38_G
P49821	NDUFV1	121	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	P122L	False	False	False	False	False	P49821_121_L
P49821	NDUFV1	159	G	E	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	G160E	False	False	False	False	False	P49821_159_E
P49821	NDUFV1	205	C	Y	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	C206Y	False	False	True	True	False	P49821_205_Y
P49821	NDUFV1	377	S	R	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	S378R	False	False	False	False	False	P49821_377_R
P49821	NDUFV1	451	R	P	0	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R452P	False	False	False	False	False	P49821_451_P
O00217	NDUFS8	142	Y	F	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	Y143F	False	False	False	True	False	O00217_142_F
O00429	DNM1L	402	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	R403C	False	True	False	True	False	O00429_402_C
Q9Y2Z4	YARS2	465	K	E	1	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	K466E	False	False	False	False	False	Q9Y2Z4_465_E
Q9Y2Z4	YARS2	310	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	D311E	False	False	False	False	False	Q9Y2Z4_310_E
Q9Y2Z4	YARS2	124	R	P	1	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	R125P	False	False	False	False	False	Q9Y2Z4_124_P
Q9Y2Z4	YARS2	78	G	V	1	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	G79V	False	False	False	False	False	Q9Y2Z4_78_V
Q16795	NDUFA9	74	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R75H	False	False	False	False	False	Q16795_74_H
Q16795	NDUFA9	193	A	T	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A194T	False	False	False	False	False	Q16795_193_T
Q9UI09	NDUFA12	14	T	S	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	T15S	True	False	False	False	True	Q9UI09_14_S
Q8TB37	NUBPL	55	G	E	0	ClinVar	criteria provided, single submitter	0.012539184952978056	Iron-sulfur cluster transfer protein NUBPL (IND1 h	G56E	False	False	False	False	False	Q8TB37_55_E
Q9Y2Z9	COQ6	48	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	A49S	True	False	False	False	True	Q9Y2Z9_48_S
Q9Y2Z9	COQ6	394	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	T395M	False	False	False	False	False	Q9Y2Z9_394_M
Q9Y375	NDUFAF1	306	P	T	0	ClinVar	criteria provided, single submitter	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	P307T	False	False	False	False	False	Q9Y375_306_T
Q9Y375	NDUFAF1	216	R	Q	1	ClinVar	criteria provided, single submitter	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	R217Q	False	False	False	False	False	Q9Y375_216_Q
Q9Y375	NDUFAF1	23	L	M	0	ClinVar	criteria provided, single submitter	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	L24M	True	False	False	False	True	Q9Y375_23_M
Q9Y375	NDUFAF1	0	M	T	1	ClinVar	criteria provided, single submitter	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	M1T	True	False	False	False	True	Q9Y375_0_T
O75208	COQ9	11	R	G	0	ClinVar	criteria provided, single submitter	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	R12G	True	False	False	False	True	O75208_11_G
O75208	COQ9	26	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	R27G	True	False	False	False	True	O75208_26_G
O75208	COQ9	282	M	I	0	ClinVar	criteria provided, single submitter	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	M283I	False	False	False	False	False	O75208_282_I
O00142	TK2	156	D	N	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	D157N	False	False	False	False	False	O00142_156_N
O00142	TK2	138	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	A139T	False	False	False	False	False	O00142_138_T
O00142	TK2	100	D	N	0	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	D101N	False	False	False	False	False	O00142_100_N
O00142	TK2	31	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R32W	True	False	False	False	True	O00142_31_W
Q9UQ90	SPG7	174	L	P	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	L175P	False	False	False	False	False	Q9UQ90_174_P
Q9UQ90	SPG7	636	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	A637T	False	False	False	False	False	Q9UQ90_636_T
Q9UQ90	SPG7	729	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	N730D	False	False	False	False	False	Q9UQ90_729_D
Q9UQ90	SPG7	742	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	I743T	False	False	False	False	False	Q9UQ90_742_T
Q9UQ90	SPG7	770	Q	E	0	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	Q771E	False	False	False	False	False	Q9UQ90_770_E
Q6DKK2	TTC19	7	S	T	0	ClinVar	criteria provided, single submitter	0.013157894736842105	Tetratricopeptide repeat protein 19, mitochondrial	S8T	True	False	False	False	True	Q6DKK2_7_T
Q8N5M1	ATPAF2	240	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	ATP synthase mitochondrial F1 complex assembly fac	E241G	False	False	False	False	False	Q8N5M1_240_G
Q9UHN1	POLG2	385	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	D386E	False	False	False	False	False	Q9UHN1_385_E
Q9UHN1	POLG2	152	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	L153V	False	False	False	False	False	Q9UHN1_152_V
Q9UHN1	POLG2	132	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	H133Y	False	False	False	False	False	Q9UHN1_132_Y
P19404	NDUFV2	189	D	G	1	ClinVar	criteria provided, single submitter	0.020080321285140562	NADH dehydrogenase [ubiquinone] flavoprotein 2, mi	D190G	False	False	False	False	False	P19404_189_G
O75251	NDUFS7	0	M	T	1	ClinVar	criteria provided, single submitter	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	M1T	True	False	False	False	True	O75251_0_T
O95571	ETHE1	162	R	Q	1	ClinVar	reviewed by expert panel	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	R163Q	False	False	False	True	False	O95571_162_Q
O95571	ETHE1	113	I	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	I114F	False	False	False	True	False	O95571_113_F
Q5TEU4	NDUFAF5	63	E	K	0	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	E64K	False	False	False	False	False	Q5TEU4_63_K
Q5TEU4	NDUFAF5	96	G	S	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	G97S	False	False	False	False	False	Q5TEU4_96_S
O95831	AIFM1	394	V	G	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	V395G	False	False	False	False	False	O95831_394_G
O95831	AIFM1	44	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P45R	True	False	False	False	True	O95831_44_R
P08559	PDHA1	32	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D33H	True	False	False	True	True	P08559_32_H
P08559	PDHA1	71	R	C	1	ClinVar	reviewed by expert panel	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R72C	False	True	False	True	False	P08559_71_C
P08559	PDHA1	126	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R127W	False	False	False	True	False	P08559_126_W
P08559	PDHA1	150	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G151R	False	False	False	True	False	P08559_150_R
P08559	PDHA1	168	A	V	1	ClinVar	reviewed by expert panel	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A169V	False	False	False	True	False	P08559_168_V
P08559	PDHA1	235	A	E	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A236E	False	False	False	True	False	P08559_235_E
P08559	PDHA1	377	R	C	1	ClinVar	reviewed by expert panel	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R378C	False	True	False	True	False	P08559_377_C
Q14896	MYBPC3	27	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	V28M	True	False	False	False	True	Q14896_27_M
P49588	AARS1	233	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	P234S	False	False	False	False	False	P49588_233_S
Q9UQ90	SPG7	665	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	G666R	False	False	False	False	False	Q9UQ90_665_R
P10589	NR2F1	127	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	C128R	False	False	True	True	False	P10589_127_R
P55072	VCP	154	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R155G	False	False	False	False	False	P55072_154_G
P23378	GLDC	580	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P581R	False	False	False	False	False	P23378_580_R
P43897	TSFM	118	V	L	1	ClinVar	no assertion criteria provided	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	V119L	False	False	False	False	False	P43897_118_L
P12883	MYH7	514	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M515T	False	False	False	False	False	P12883_514_T
Q9UQ90	SPG7	576	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	G577S	False	False	False	False	False	Q9UQ90_576_S
O00555	CACNA1A	301	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D302N	False	False	False	False	False	O00555_301_N
P13637	ATP1A3	324	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G325D	False	False	False	False	False	P13637_324_D
O43526	KCNQ2	280	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G281W	False	False	False	False	False	O43526_280_W
O95140	MFN2	145	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L146F	False	False	False	False	False	O95140_145_F
O95140	MFN2	164	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H165R	False	False	False	False	False	O95140_164_R
O95140	MFN2	375	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M376V	False	False	False	False	False	O95140_375_V
Q9UQ90	SPG7	571	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	A572V	False	False	False	False	False	Q9UQ90_571_V
Q9UQ90	SPG7	749	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	P750L	False	False	False	False	False	Q9UQ90_749_L
Q14232	EIF2B1	274	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01639344262295082	Translation initiation factor eIF2B subunit alpha 	Y275C	False	True	False	True	False	Q14232_274_C
P45379	TNNT2	220	I	T	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	I221T	False	False	False	False	False	P45379_220_T
P18206	VCL	510	D	Y	1	ClinVar	criteria provided, single submitter	0.008818342151675485	Vinculin (Metavinculin) (MV)	D511Y	False	False	False	False	False	P18206_510_Y
P12883	MYH7	841	S	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S842G	False	False	False	False	False	P12883_841_G
P12883	MYH7	763	F	Y	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F764Y	False	False	False	False	False	P12883_763_Y
P12883	MYH7	733	Q	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q734P	False	False	False	False	False	P12883_733_P
P12883	MYH7	718	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R719P	False	False	False	False	False	P12883_718_P
P12883	MYH7	701	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I702V	False	False	False	False	False	P12883_701_V
P12883	MYH7	492	M	I	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M493I	False	False	False	False	False	P12883_492_I
P12883	MYH7	251	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F252C	False	True	False	True	False	P12883_251_C
Q9H845	ACAD9	0	M	V	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	M1V	True	False	False	False	True	Q9H845_0_V
Q9H845	ACAD9	265	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R266W	False	False	False	False	False	Q9H845_265_W
Q9H845	ACAD9	412	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	E413K	False	False	False	False	False	Q9H845_412_K
Q9H845	ACAD9	517	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R518C	False	True	False	True	False	Q9H845_517_C
Q9H845	ACAD9	531	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R532Q	False	False	False	False	False	Q9H845_531_Q
P14854	COX6B1	19	R	C	1	ClinVar	criteria provided, single submitter	0.046511627906976744	Cytochrome c oxidase subunit 6B1 (Cytochrome c oxi	R20C	True	True	False	True	True	P14854_19_C
P51788	CLCN2	746	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R747H	False	False	False	False	False	P51788_746_H
P51788	CLCN2	724	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R725W	False	False	False	False	False	P51788_724_W
P51788	CLCN2	717	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	E718D	False	False	False	False	False	P51788_717_D
P51788	CLCN2	667	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	T668S	False	False	False	False	False	P51788_667_S
P51788	CLCN2	645	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R646Q	False	False	False	False	False	P51788_645_Q
P51788	CLCN2	643	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R644C	False	True	False	True	False	P51788_643_C
P51788	CLCN2	470	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R471H	False	False	False	False	False	P51788_470_H
P51788	CLCN2	67	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R68H	False	False	False	False	False	P51788_67_H
P51788	CLCN2	47	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	P48R	True	False	False	False	True	P51788_47_R
P51788	CLCN2	687	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R688Q	False	False	False	False	False	P51788_687_Q
P14867	GABRA1	300	R	K	1	ClinVar	no assertion criteria provided	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	R301K	False	False	False	False	False	P14867_300_K
P55072	VCP	90	N	Y	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	N91Y	False	False	False	False	False	P55072_90_Y
Q9UQD0	SCN8A	891	V	G	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V892G	False	False	False	False	False	Q9UQD0_891_G
Q9UM47	NOTCH3	395	S	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	S396C	False	True	False	True	False	Q9UM47_395_C
O76039	CDKL5	117	Q	R	1	ClinVar	no assertion criteria provided	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Q118R	False	False	False	False	False	O76039_117_R
P05166	PCCB	164	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R165W	False	False	False	False	False	P05166_164_W
P05166	PCCB	403	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	E404K	False	False	False	False	False	P05166_403_K
Q9H2X9	SLC12A5	527	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021071115013169446	Solute carrier family 12 member 5 (Electroneutral 	G528D	False	False	False	False	False	Q9H2X9_527_D
Q9H2X9	SLC12A5	287	L	H	1	ClinVar	no assertion criteria provided	0.021071115013169446	Solute carrier family 12 member 5 (Electroneutral 	L288H	False	False	False	False	False	Q9H2X9_287_H
O95831	AIFM1	450	R	Q	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	R451Q	False	False	False	False	False	O95831_450_Q
O95831	AIFM1	259	T	A	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	T260A	False	False	False	False	False	O95831_259_A
Q86YT5	SLC13A5	426	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	S427L	False	False	False	False	False	Q86YT5_426_L
Q86YT5	SLC13A5	141	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	T142M	False	False	False	False	False	Q86YT5_141_M
Q86YT5	SLC13A5	523	D	H	1	ClinVar	no assertion criteria provided	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	D524H	False	False	False	False	False	Q86YT5_523_H
P05165	PCCA	94	D	G	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	D95G	False	False	False	False	False	P05165_94_G
P05165	PCCA	143	G	V	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G144V	False	False	False	False	False	P05165_143_V
P05165	PCCA	287	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R288K	False	False	False	False	False	P05165_287_K
P05165	PCCA	667	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G668R	False	False	False	False	False	P05165_667_R
Q9Y223	GNE	215	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	V216A	False	False	False	False	False	Q9Y223_215_A
P55072	VCP	184	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	E185K	False	False	False	False	False	P55072_184_K
P55072	VCP	96	G	E	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	G97E	False	False	False	False	False	P55072_96_E
P63267	ACTG2	44	M	T	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	M45T	True	False	False	False	True	P63267_44_T
P63267	ACTG2	62	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R63G	False	False	False	False	False	P63267_62_G
P63267	ACTG2	197	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	G198D	False	False	False	False	False	P63267_197_D
Q9H270	VPS11	845	C	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024442082890541977	Vacuolar protein sorting-associated protein 11 hom	C846G	False	False	True	True	False	Q9H270_845_G
Q96N67	DOCK7	486	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01542056074766355	Dedicator of cytokinesis protein 7	K487R	False	False	False	False	False	Q96N67_486_R
Q15031	LARS2	830	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	E831D	False	False	False	False	False	Q15031_830_D
Q9NY47	CACNA2D2	74	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018260869565217393	Voltage-dependent calcium channel subunit alpha-2/	R75Q	False	False	False	False	False	Q9NY47_74_Q
Q9BUB7	TMEM70	193	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011538461538461539	Transmembrane protein 70, mitochondrial	V194M	False	False	False	False	False	Q9BUB7_193_M
Q9NZC7	WWOX	119	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	R120W	False	False	False	False	False	Q9NZC7_119_W
P13637	ATP1A3	322	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	P323S	False	False	False	False	False	P13637_322_S
Q9Y6H1	CHCHD2	60	T	I	1	ClinVar	criteria provided, single submitter	0.026490066225165563	Coiled-coil-helix-coiled-coil-helix domain-contain	T61I	False	False	False	False	False	Q9Y6H1_60_I
P30084	ECHS1	58	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	N59S	False	False	False	False	False	P30084_58_S
P30084	ECHS1	137	A	V	1	ClinVar	no assertion criteria provided	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A138V	False	False	False	False	False	P30084_137_V
Q8WWV3	RTN4IP1	102	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017676767676767676	NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 	R103H	False	False	False	False	False	Q8WWV3_102_H
Q99807	COQ7	140	V	E	1	ClinVar	criteria provided, single submitter	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	V141E	False	False	False	False	False	Q99807_140_E
P21912	SDHB	112	C	S	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C113S	False	False	True	True	False	P21912_112_S
Q8N2C7	UNC80	188	V	M	1	ClinVar	criteria provided, single submitter	0.021485573971761818	Protein unc-80 homolog	V189M	False	False	False	False	False	Q8N2C7_188_M
Q86VD7	SLC25A42	290	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0031446540880503146	Mitochondrial coenzyme A transporter SLC25A42 (Sol	N291D	False	False	False	False	False	Q86VD7_290_D
O43526	KCNQ2	715	T	I	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T716I	False	False	False	False	False	O43526_715_I
O43526	KCNQ2	314	G	R	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G315R	False	False	False	False	False	O43526_314_R
O43526	KCNQ2	305	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A306V	False	False	False	False	False	O43526_305_V
O43526	KCNQ2	283	Y	D	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y284D	False	False	False	False	False	O43526_283_D
O43526	KCNQ2	267	L	P	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L268P	False	False	False	False	False	O43526_267_P
O43526	KCNQ2	129	E	K	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	E130K	False	False	False	False	False	O43526_129_K
O43526	KCNQ2	106	L	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L107F	False	False	False	False	False	O43526_106_F
O95140	MFN2	239	F	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	F240L	False	False	False	False	False	O95140_239_L
P31040	SDHA	183	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	G184R	False	False	False	False	False	P31040_183_R
O76041	NEBL	659	Q	K	0	ClinVar	criteria provided, single submitter	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	Q660K	False	False	False	False	False	O76041_659_K
P50461	CSRP3	149	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.08247422680412371	Cysteine and glycine-rich protein 3 (Cardiac LIM p	C150Y	False	False	True	True	False	P50461_149_Y
P13533	MYH6	362	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	M363L	False	False	False	False	False	P13533_362_L
P12883	MYH7	538	M	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M539L	False	False	False	False	False	P12883_538_L
P49588	AARS1	966	K	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	K967M	False	False	False	False	False	P49588_966_M
Q9UQ90	SPG7	694	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	L695P	False	False	False	False	False	Q9UQ90_694_P
Q9BR39	JPH2	187	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	P188S	False	False	False	False	False	Q9BR39_187_S
Q92743	HTRA1	165	R	L	1	ClinVar	criteria provided, single submitter	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	R166L	False	False	False	True	False	Q92743_165_L
Q92743	HTRA1	172	A	P	1	ClinVar	no assertion criteria provided	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	A173P	False	False	False	True	False	Q92743_172_P
Q92743	HTRA1	283	S	R	1	ClinVar	no assertion criteria provided	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	S284R	False	False	False	True	False	Q92743_283_R
Q00059	TFAM	177	P	L	1	ClinVar	criteria provided, single submitter	0.016260162601626018	Transcription factor A, mitochondrial (mtTFA) (Mit	P178L	False	False	False	False	False	Q00059_177_L
Q9Y606	PUS1	294	R	W	1	ClinVar	criteria provided, single submitter	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	R295W	False	False	False	False	False	Q9Y606_294_W
P15924	DSP	1600	M	I	1	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	M1601I	False	False	False	False	False	P15924_1600_I
P19971	TYMP	215	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	A216V	False	False	False	False	False	P19971_215_V
P19971	TYMP	48	L	R	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L49R	True	False	False	False	True	P19971_48_R
P19971	TYMP	53	I	M	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	I54M	False	False	False	False	False	P19971_53_M
P19971	TYMP	86	E	D	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	E87D	False	False	False	False	False	P19971_86_D
P19971	TYMP	91	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	T92N	False	False	False	False	False	P19971_91_N
P19971	TYMP	113	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	D114N	False	False	False	False	False	P19971_113_N
P19971	TYMP	132	L	P	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L133P	False	False	False	False	False	P19971_132_P
P19971	TYMP	133	A	E	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	A134E	False	False	False	False	False	P19971_133_E
P19971	TYMP	155	D	G	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	D156G	False	False	False	False	False	P19971_155_G
P19971	TYMP	159	S	P	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	S160P	False	False	False	False	False	P19971_159_P
P19971	TYMP	172	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	M173R	False	False	False	False	False	P19971_172_R
P19971	TYMP	176	L	P	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L177P	False	False	False	False	False	P19971_176_P
P19971	TYMP	201	R	K	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	R202K	False	False	False	False	False	P19971_201_K
P19971	TYMP	207	V	G	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	V208G	False	False	False	False	False	P19971_207_G
P19971	TYMP	235	F	S	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	F236S	False	False	False	False	False	P19971_235_S
P19971	TYMP	253	T	P	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	T254P	False	False	False	False	False	P19971_253_P
P19971	TYMP	285	E	K	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	E286K	False	False	False	False	False	P19971_285_K
P19971	TYMP	297	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G298D	False	False	False	False	False	P19971_297_D
P19971	TYMP	310	G	C	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G311C	False	True	False	True	False	P19971_310_C
P19971	TYMP	312	L	P	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L313P	False	False	False	False	False	P19971_312_P
P19971	TYMP	355	L	P	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L356P	False	False	False	False	False	P19971_355_P
P19971	TYMP	386	G	S	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G387S	False	False	False	False	False	P19971_386_S
P19971	TYMP	427	G	S	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	G428S	False	False	False	False	False	P19971_427_S
P19971	TYMP	453	A	P	1	ClinVar	no assertion criteria provided	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	A454P	False	False	False	False	False	P19971_453_P
Q99250	SCN2A	1489	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1490V	False	False	False	False	False	Q99250_1489_V
Q99250	SCN2A	1575	G	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1576R	False	False	False	False	False	Q99250_1575_R
Q12879	GRIN2A	1458	S	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015710382513661202	Glutamate receptor ionotropic, NMDA 2A (GluN2A) (G	S1459G	False	False	False	False	False	Q12879_1458_G
Q96QS3	ARX	55	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	S56G	False	False	False	False	False	Q96QS3_55_G
Q9UQD0	SCN8A	1758	N	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1759S	False	False	False	False	False	Q9UQD0_1758_S
Q05193	DNM1	46	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	V47M	True	False	False	False	True	Q05193_46_M
Q7L0Y3	TRMT10C	271	T	A	1	ClinVar	no assertion criteria provided	0.01240694789081886	tRNA methyltransferase 10 homolog C (HBV pre-S2 tr	T272A	False	False	False	False	False	Q7L0Y3_271_A
P38646	HSPA9	125	R	W	1	ClinVar	no assertion criteria provided	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	R126W	False	False	False	False	False	P38646_125_W
P38646	HSPA9	127	Y	C	1	ClinVar	no assertion criteria provided	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	Y128C	False	True	False	True	False	P38646_127_C
P21817	RYR1	1666	R	C	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R1667C	False	True	False	True	False	P21817_1666_C
P21817	RYR1	1772	P	S	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	P1773S	False	False	False	False	False	P21817_1772_S
P21817	RYR1	4500	P	L	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	P4501L	False	False	False	False	False	P21817_4500_L
P68133	ACTA1	196	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E197D	False	False	False	False	False	P68133_196_D
Q86SX6	GLRX5	100	K	Q	1	ClinVar	no assertion criteria provided	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	K101Q	False	False	False	False	False	Q86SX6_100_Q
Q86SX6	GLRX5	147	L	S	1	ClinVar	no assertion criteria provided	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	L148S	False	False	False	False	False	Q86SX6_147_S
O43766	LIAS	158	E	K	1	ClinVar	no assertion criteria provided	0.026881720430107527	Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoa	E159K	False	False	False	False	False	O43766_158_K
P68133	ACTA1	153	V	L	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V154L	False	False	False	False	False	P68133_153_L
P12110	COL6A2	317	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	K318N	False	False	False	False	False	P12110_317_N
Q8NFF5	FLAD1	529	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022146507666098807	FAD synthase (EC 2.7.7.2) (FAD pyrophosphorylase) 	R530C	False	True	False	True	False	Q8NFF5_529_C
P47870	GABRB2	251	P	A	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	P252A	False	False	False	False	False	P47870_251_A
Q13224	GRIN2B	688	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G689S	False	False	False	False	False	Q13224_688_S
Q9UKA2	FBXL4	480	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	L481P	False	False	False	True	False	Q9UKA2_480_P
Q16363	LAMA4	282	D	A	0	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	D283A	False	False	False	False	False	Q16363_282_A
P31040	SDHA	628	Y	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	Y629F	False	False	False	False	False	P31040_628_F
P31040	SDHA	37	D	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	D38V	True	False	False	False	True	P31040_37_V
Q15878	CACNA1E	697	F	S	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	F698S	False	False	False	False	False	Q15878_697_S
Q8NI60	COQ8A	338	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	A339T	False	False	False	False	False	Q8NI60_338_T
Q8NI60	COQ8A	554	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	M555I	False	False	False	False	False	Q8NI60_554_I
P20929	NEB	1464	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D1465N	False	False	False	False	False	P20929_1464_N
Q5T160	RARS2	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1V	True	False	False	False	True	Q5T160_0_V
P09471	GNAO1	44	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G45R	True	False	False	False	True	P09471_44_R
Q15046	KARS1	199	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	P200L	False	False	False	False	False	Q15046_199_L
Q5TEU4	NDUFAF5	51	K	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	K52T	False	False	False	False	False	Q5TEU4_51_T
Q5TEU4	NDUFAF5	278	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M279R	False	False	False	False	False	Q5TEU4_278_R
Q9H6K4	OPA3	78	L	V	1	ClinVar	criteria provided, single submitter	0.01675977653631285	Optic atrophy 3 protein	L79V	False	False	False	False	False	Q9H6K4_78_V
Q9NWS8	RMND1	434	L	F	1	ClinVar	no assertion criteria provided	0.015590200445434299	Required for meiotic nuclear division protein 1 ho	L435F	False	False	False	False	False	Q9NWS8_434_F
Q9NWS8	RMND1	210	V	M	1	ClinVar	criteria provided, single submitter	0.015590200445434299	Required for meiotic nuclear division protein 1 ho	V211M	False	False	False	False	False	Q9NWS8_210_M
Q9NWS8	RMND1	177	T	K	1	ClinVar	no assertion criteria provided	0.015590200445434299	Required for meiotic nuclear division protein 1 ho	T178K	False	False	False	False	False	Q9NWS8_177_K
Q13698	CACNA1S	515	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	S516L	False	False	False	False	False	Q13698_515_L
P05166	PCCB	438	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	Y439C	False	True	False	True	False	P05166_438_C
Q00872	MYBPC1	247	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015775635407537247	Myosin-binding protein C, slow-type (Slow MyBP-C) 	E248K	False	False	False	False	False	Q00872_247_K
P45379	TNNT2	182	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R183W	False	False	False	False	False	P45379_182_W
P45379	TNNT2	118	H	Y	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	H119Y	False	False	False	False	False	P45379_118_Y
P68133	ACTA1	269	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G270R	False	False	False	False	False	P68133_269_R
P20929	NEB	5915	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K5916R	False	False	False	False	False	P20929_5915_R
P20929	NEB	4573	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	H4574R	False	False	False	False	False	P20929_4573_R
P20929	NEB	4542	K	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K4543T	False	False	False	False	False	P20929_4542_T
P20929	NEB	4222	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	A4223T	False	False	False	False	False	P20929_4222_T
P20929	NEB	3041	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	C3042R	False	False	True	True	False	P20929_3041_R
Q8WZ42	TTN	5286	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T5287M	False	False	False	False	False	Q8WZ42_5286_M
P04049	RAF1	41	A	I	0	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	A42I	True	False	False	False	True	P04049_41_I
Q2TBA0	KLHL40	344	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	N345S	False	False	False	False	False	Q2TBA0_344_S
Q2TBA0	KLHL40	616	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	C617R	False	False	True	True	False	Q2TBA0_616_R
Q15031	LARS2	323	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	H324Q	False	False	False	False	False	Q15031_323_Q
Q15031	LARS2	726	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	K727N	False	False	False	False	False	Q15031_726_N
Q9NPC6	MYOZ2	81	N	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)	N82T	False	False	False	False	False	Q9NPC6_81_T
P08172	CHRM2	230	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027896995708154508	Muscarinic acetylcholine receptor M2	V231I	False	False	False	False	False	P08172_230_I
P08172	CHRM2	257	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027896995708154508	Muscarinic acetylcholine receptor M2	N258S	False	False	False	False	False	P08172_257_S
P08172	CHRM2	371	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027896995708154508	Muscarinic acetylcholine receptor M2	P372A	False	False	False	False	False	P08172_371_A
O76041	NEBL	684	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	A685V	False	False	False	False	False	O76041_684_V
Q86TC9	MYPN	244	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	A245G	False	False	False	False	False	Q86TC9_244_G
P09493	TPM1	165	A	T	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	A166T	False	False	False	False	False	P09493_165_T
P52179	MYOM1	1572	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	R1573Q	False	False	False	False	False	P52179_1572_Q
P52179	MYOM1	1557	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	F1558L	False	False	False	False	False	P52179_1557_L
P52179	MYOM1	1452	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	M1453T	False	False	False	False	False	P52179_1452_T
P52179	MYOM1	1407	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	D1408N	False	False	False	False	False	P52179_1407_N
P52179	MYOM1	1150	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	D1151E	False	False	False	False	False	P52179_1150_E
P52179	MYOM1	959	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	I960T	False	False	False	False	False	P52179_959_T
P52179	MYOM1	885	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	S886G	False	False	False	False	False	P52179_885_G
P52179	MYOM1	783	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	E784K	False	False	False	False	False	P52179_783_K
P52179	MYOM1	726	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T727A	False	False	False	False	False	P52179_726_A
P52179	MYOM1	703	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	E704K	False	False	False	False	False	P52179_703_K
P52179	MYOM1	687	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T688S	False	False	False	False	False	P52179_687_S
P52179	MYOM1	650	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	R651Q	False	False	False	False	False	P52179_650_Q
P52179	MYOM1	599	E	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	E600V	False	False	False	False	False	P52179_599_V
P52179	MYOM1	340	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	G341A	False	False	False	False	False	P52179_340_A
P52179	MYOM1	246	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	E247K	False	False	False	False	False	P52179_246_K
P52179	MYOM1	214	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T215M	False	False	False	False	False	P52179_214_M
P52179	MYOM1	196	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T197M	False	False	False	False	False	P52179_196_M
P52179	MYOM1	180	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	S181P	False	False	False	False	False	P52179_180_P
P52179	MYOM1	179	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T180I	False	False	False	False	False	P52179_179_I
P52179	MYOM1	96	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	G97V	False	False	False	False	False	P52179_96_V
P52179	MYOM1	46	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	S47G	True	False	False	False	True	P52179_46_G
P52179	MYOM1	21	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	V22L	True	False	False	False	True	P52179_21_L
P11532	DMD	2465	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	M2466T	False	False	False	False	False	P11532_2465_T
P11532	DMD	2414	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2415H	False	False	False	False	False	P11532_2414_H
P11532	DMD	856	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	P857S	False	False	False	False	False	P11532_856_S
P11532	DMD	572	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	A573V	False	False	False	False	False	P11532_572_V
Q16363	LAMA4	332	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	A333T	False	False	False	False	False	Q16363_332_T
Q13224	GRIN2B	1110	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1111H	False	False	False	False	False	Q13224_1110_H
Q13224	GRIN2B	750	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I751T	False	False	False	False	False	Q13224_750_T
Q13224	GRIN2B	667	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D668Y	False	False	False	False	False	Q13224_667_Y
Q13224	GRIN2B	656	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	E657G	False	False	False	False	False	Q13224_656_G
Q13224	GRIN2B	382	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S383T	False	False	False	False	False	Q13224_382_T
P21912	SDHB	195	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C196Y	False	False	True	True	False	P21912_195_Y
P21912	SDHB	188	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C189F	False	False	True	True	False	P21912_188_F
P21912	SDHB	73	D	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	D74A	False	False	False	True	False	P21912_73_A
P21912	SDHB	64	L	H	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	L65H	False	False	False	True	False	P21912_64_H
O14521	SDHD	106	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L107R	False	False	False	True	False	O14521_106_R
O14521	SDHD	113	Y	N	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	Y114N	False	False	False	True	False	O14521_113_N
Q9BTV4	TMEM43	353	C	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	C354S	False	False	True	True	False	Q9BTV4_353_S
P12883	MYH7	1467	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1468K	False	False	False	False	False	P12883_1467_K
P12883	MYH7	869	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R870L	False	False	False	False	False	P12883_869_L
P12883	MYH7	452	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R453L	False	False	False	False	False	P12883_452_L
Q9NZC7	WWOX	380	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	R381C	False	True	False	True	False	Q9NZC7_380_C
P12111	COL6A3	1394	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R1395W	False	False	False	False	False	P12111_1394_W
Q9NZC7	WWOX	278	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	R279C	False	True	False	True	False	Q9NZC7_278_C
Q99574	SERPINI1	25	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	I26T	True	False	False	False	True	Q99574_25_T
Q9BQP7	MGME1	264	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020348837209302327	Mitochondrial genome maintenance exonuclease 1 (EC	T265I	False	False	False	False	False	Q9BQP7_264_I
P23378	GLDC	568	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A569T	False	False	False	False	False	P23378_568_T
P0DJ07	PET100	27	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Protein PET100 homolog, mitochondrial	E28K	True	False	False	False	True	P0DJ07_27_K
P20929	NEB	3155	I	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I3156N	False	False	False	False	False	P20929_3155_N
P05165	PCCA	581	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	S582L	False	False	False	False	False	P05165_581_L
P43897	TSFM	265	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	L266I	False	False	False	False	False	P43897_265_I
Q5T011	SZT2	2520	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	V2521A	False	False	False	False	False	Q5T011_2520_A
P48728	AMT	299	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	M300V	False	False	False	False	False	P48728_299_V
P40939	HADHA	357	Q	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	Q358K	False	False	False	False	False	P40939_357_K
P78363	ABCA4	958	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01891772987241531	Retinal-specific phospholipid-transporting ATPase 	T959A	False	False	False	False	False	P78363_958_A
Q9UQD0	SCN8A	266	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L267S	False	False	False	False	False	Q9UQD0_266_S
Q8IUX1	TMEM126B	211	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017391304347826087	Complex I assembly factor TMEM126B, mitochondrial 	G212V	False	False	False	False	False	Q8IUX1_211_V
Q6UVM3	KCNT2	239	F	L	1	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	F240L	False	False	False	False	False	Q6UVM3_239_L
P21912	SDHB	241	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R242S	False	False	False	True	False	P21912_241_S
P21912	SDHB	98	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G99D	False	False	False	True	False	P21912_98_D
Q5T011	SZT2	859	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	E860K	False	False	False	False	False	Q5T011_859_K
Q5T011	SZT2	1156	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	P1157S	False	False	False	False	False	Q5T011_1156_S
Q5T011	SZT2	1510	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	V1511I	False	False	False	False	False	Q5T011_1510_I
Q9NY46	SCN3A	1861	G	C	0	ClinVar	reviewed by expert panel	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	G1862C	False	True	False	True	False	Q9NY46_1861_C
Q9NY46	SCN3A	1802	D	N	0	ClinVar	reviewed by expert panel	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	D1803N	False	False	False	False	False	Q9NY46_1802_N
P35498	SCN1A	1427	V	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1428F	False	False	False	False	False	P35498_1427_F
P35498	SCN1A	953	E	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E954V	False	False	False	False	False	P35498_953_V
O75746	SLC25A12	242	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	R243K	False	False	False	False	False	O75746_242_K
P17661	DES	337	L	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	L338P	False	False	False	False	False	P17661_337_P
Q9BTV4	TMEM43	230	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	P231L	False	False	False	False	False	Q9BTV4_230_L
Q01484	ANK2	2610	Y	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011119535001263583	Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non	Y2611H	False	False	False	False	False	Q01484_2610_H
Q01484	ANK2	3199	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011119535001263583	Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non	L3200F	False	False	False	False	False	Q01484_3199_F
P31040	SDHA	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	M1V	True	False	False	False	True	P31040_0_V
P31040	SDHA	584	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	R585Q	False	False	False	False	False	P31040_584_Q
Q16363	LAMA4	243	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	G244R	False	False	False	False	False	Q16363_243_R
Q9Y2Z2	MTO1	206	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	T207M	False	False	False	False	False	Q9Y2Z2_206_M
Q9Y2Z2	MTO1	307	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	T308A	False	False	False	False	False	Q9Y2Z2_307_A
Q9Y2Z2	MTO1	350	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	M351V	False	False	False	False	False	Q9Y2Z2_350_V
Q5T481	RBM20	767	S	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S768W	False	False	False	False	False	Q5T481_767_W
O95817	BAG3	474	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	D475N	False	False	False	False	False	O95817_474_N
Q9UQD0	SCN8A	839	L	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L840R	False	False	False	False	False	Q9UQD0_839_R
P12883	MYH7	253	A	E	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A254E	False	False	False	False	False	P12883_253_E
Q8NCM2	KCNH5	963	Q	K	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	Q964K	False	False	False	False	False	Q8NCM2_963_K
O14647	CHD2	1406	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1407T	False	False	False	False	False	O14647_1406_T
O14647	CHD2	1659	D	N	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	D1660N	False	False	False	False	False	O14647_1659_N
Q9NZC7	WWOX	97	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	P98L	False	False	False	False	False	Q9NZC7_97_L
Q9NZC7	WWOX	412	S	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	S413Y	False	False	False	False	False	Q9NZC7_412_Y
Q9BQ52	ELAC2	51	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	S52F	False	False	False	False	False	Q9BQ52_51_F
O94989	ARHGEF15	22	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R23C	True	True	False	True	True	O94989_22_C
O94989	ARHGEF15	618	R	S	0	ClinVar	criteria provided, single submitter	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R619S	False	False	False	False	False	O94989_618_S
O94989	ARHGEF15	774	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R775W	False	False	False	False	False	O94989_774_W
O94989	ARHGEF15	839	P	Q	0	ClinVar	criteria provided, single submitter	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	P840Q	False	False	False	False	False	O94989_839_Q
Q96L12	CALR3	41	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Calreticulin-3 (Calreticulin-2) (Calsperin)	N42S	True	False	False	False	True	Q96L12_41_S
Q9NNW7	TXNRD2	36	Q	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	Q37L	True	False	False	False	True	Q9NNW7_36_L
Q9NP73	ALG13	890	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S891F	False	False	False	False	False	Q9NP73_890_F
O95831	AIFM1	95	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	N96S	False	False	False	False	False	O95831_95_S
P50402	EMD	148	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.003937007874015748	Emerin	D149H	False	False	False	False	False	P50402_148_H
Q96QS3	ARX	258	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	L259P	False	False	False	False	False	Q96QS3_258_P
Q9NP81	SARS2	347	F	L	1	ClinVar	no assertion criteria provided	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	F348L	False	False	False	False	False	Q9NP81_347_L
Q15049	MLC1	205	G	V	1	ClinVar	no assertion criteria provided	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G206V	False	False	False	False	False	Q15049_205_V
Q8N142	ADSS1	260	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010940919037199124	Adenylosuccinate synthetase isozyme 1 (AMPSase 1) 	D261N	False	False	False	False	False	Q8N142_260_N
O95140	MFN2	243	V	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V244L	False	False	False	False	False	O95140_243_L
O95140	MFN2	159	V	G	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V160G	False	False	False	False	False	O95140_159_G
O95140	MFN2	243	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V244M	False	False	False	False	False	O95140_243_M
O95140	MFN2	648	R	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R649P	False	False	False	False	False	O95140_648_P
O00429	DNM1L	445	C	F	1	ClinVar	no assertion criteria provided	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	C446F	False	False	True	True	False	O00429_445_F
O95140	MFN2	219	A	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A220V	False	False	False	False	False	O95140_219_V
O95140	MFN2	279	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R280C	False	True	False	True	False	O95140_279_C
O95140	MFN2	363	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R364Q	False	False	False	False	False	O95140_363_Q
P02545	LMNA	305	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L306P	False	False	False	False	False	P02545_305_P
Q13224	GRIN2B	1272	T	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T1273K	False	False	False	False	False	Q13224_1272_K
Q13224	GRIN2B	1129	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1130Q	False	False	False	False	False	Q13224_1129_Q
Q13224	GRIN2B	817	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M818T	False	False	False	False	False	Q13224_817_T
P50570	DNM2	559	E	K	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	E560K	False	False	False	False	False	P50570_559_K
Q15031	LARS2	429	A	V	1	ClinVar	no assertion criteria provided	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	A430V	False	False	False	False	False	Q15031_429_V
P15924	DSP	384	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A385V	False	False	False	False	False	P15924_384_V
O43676	NDUFB3	21	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	W22R	True	False	False	False	True	O43676_21_R
Q96AD5	PNPLA2	264	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	P265S	False	False	False	False	False	Q96AD5_264_S
P60880	SNAP25	66	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	I67N	False	False	False	False	False	P60880_66_N
P12235	SLC25A4	79	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	R80H	False	False	False	False	False	P12235_79_H
P12235	SLC25A4	234	R	G	1	ClinVar	no assertion criteria provided	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	R235G	False	False	False	False	False	P12235_234_G
Q16854	DGUOK	45	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	N46S	True	False	False	False	True	Q16854_45_S
Q16854	DGUOK	265	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	L266R	False	False	False	False	False	Q16854_265_R
Q16854	DGUOK	43	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	E44K	True	False	False	False	True	Q16854_43_K
Q8N442	GUF1	608	A	S	1	ClinVar	no assertion criteria provided	0.01195814648729447	Translation factor GUF1, mitochondrial (EC 3.6.5.-	A609S	False	False	False	False	False	Q8N442_608_S
Q14315	FLNC	1538	A	T	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1539T	False	False	False	False	False	Q14315_1538_T
Q14315	FLNC	2314	H	N	1	ClinVar	no assertion criteria provided	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	H2315N	False	False	False	False	False	Q14315_2314_N
Q14315	FLNC	122	V	A	1	ClinVar	no assertion criteria provided	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V123A	False	False	False	False	False	Q14315_122_A
Q14315	FLNC	1623	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	S1624L	False	False	False	False	False	Q14315_1623_L
Q8NCW5	NAXE	93	A	D	1	ClinVar	no assertion criteria provided	0.020833333333333332	NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipopr	A94D	False	False	False	False	False	Q8NCW5_93_D
O95363	FARS2	324	D	Y	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	D325Y	False	False	False	False	False	O95363_324_Y
O95363	FARS2	141	D	Y	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	D142Y	False	False	False	False	False	O95363_141_Y
Q8IUX1	TMEM126B	132	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017391304347826087	Complex I assembly factor TMEM126B, mitochondrial 	D133N	False	False	False	False	False	Q8IUX1_132_N
Q9UQD0	SCN8A	1482	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	E1483K	False	False	False	False	False	Q9UQD0_1482_K
O00429	DNM1L	361	G	D	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G362D	False	False	False	False	False	O00429_361_D
O00429	DNM1L	361	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G362S	False	False	False	False	False	O00429_361_S
Q9UQD0	SCN8A	213	G	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G214D	False	False	False	False	False	Q9UQD0_213_D
Q9UQD0	SCN8A	214	N	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N215D	False	False	False	False	False	Q9UQD0_214_D
Q9UQD0	SCN8A	259	F	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F260S	False	False	False	False	False	Q9UQD0_259_S
Q9UQD0	SCN8A	845	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F846S	False	False	False	False	False	Q9UQD0_845_S
Q9UQD0	SCN8A	959	V	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V960D	False	False	False	False	False	Q9UQD0_959_D
Q9UQD0	SCN8A	1326	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1327V	False	False	False	False	False	Q9UQD0_1326_V
Q9UQD0	SCN8A	1595	S	C	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S1596C	False	True	False	True	False	Q9UQD0_1595_C
Q9UQD0	SCN8A	1620	L	W	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1621W	False	False	False	False	False	Q9UQD0_1620_W
Q9UQD0	SCN8A	1649	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1650T	False	False	False	False	False	Q9UQD0_1649_T
Q9UQD0	SCN8A	1800	Q	E	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Q1801E	False	False	False	False	False	Q9UQD0_1800_E
Q9UQD0	SCN8A	1871	R	Q	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1872Q	False	False	False	False	False	Q9UQD0_1871_Q
Q8WZ42	TTN	3037	Y	H	1	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	Y3038H	False	False	False	False	False	Q8WZ42_3037_H
P09493	TPM1	172	E	D	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E173D	False	False	False	False	False	P09493_172_D
Q99714	HSD17B10	197	P	T	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	P198T	False	False	False	False	False	Q99714_197_T
P28472	GABRB3	119	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	D120N	False	False	False	False	False	P28472_119_N
P28472	GABRB3	181	Y	F	1	ClinVar	no assertion criteria provided	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	Y182F	False	False	False	False	False	P28472_181_F
P28472	GABRB3	248	Q	K	1	ClinVar	no assertion criteria provided	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	Q249K	False	False	False	False	False	P28472_248_K
P28472	GABRB3	304	A	T	1	ClinVar	no assertion criteria provided	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	A305T	False	False	False	False	False	P28472_304_T
P43004	SLC1A2	81	G	R	1	ClinVar	no assertion criteria provided	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	G82R	False	False	False	False	False	P43004_81_R
O00555	CACNA1A	100	E	Q	1	ClinVar	no assertion criteria provided	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E101Q	False	False	False	False	False	O00555_100_Q
O00555	CACNA1A	711	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A712T	False	False	False	False	False	O00555_711_T
O00555	CACNA1A	1506	A	S	1	ClinVar	no assertion criteria provided	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1507S	False	False	False	False	False	O00555_1506_S
Q13698	CACNA1S	1856	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	S1857N	False	False	False	False	False	Q13698_1856_N
Q13698	CACNA1S	1799	L	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	L1800S	False	False	False	False	False	Q13698_1799_S
Q13698	CACNA1S	1657	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R1658H	False	False	False	False	False	Q13698_1657_H
Q13698	CACNA1S	1270	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	A1271T	False	False	False	False	False	Q13698_1270_T
Q13698	CACNA1S	826	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	M827T	False	False	False	False	False	Q13698_826_T
Q13698	CACNA1S	605	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	S606N	False	False	False	False	False	Q13698_605_N
Q13698	CACNA1S	570	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	V571I	False	False	False	False	False	Q13698_570_I
Q13698	CACNA1S	298	Y	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	Y299H	False	False	False	False	False	Q13698_298_H
Q13698	CACNA1S	257	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	G258D	False	False	False	False	False	Q13698_257_D
Q13698	CACNA1S	131	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	L132M	False	False	False	False	False	Q13698_131_M
Q13698	CACNA1S	68	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	A69G	False	False	False	False	False	Q13698_68_G
Q5T011	SZT2	445	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	P446S	False	False	False	False	False	Q5T011_445_S
Q5T011	SZT2	1732	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	R1733H	False	False	False	False	False	Q5T011_1732_H
Q5T011	SZT2	1844	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	S1845R	False	False	False	False	False	Q5T011_1844_R
O00499	BIN1	430	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	P431L	False	False	False	False	False	O00499_430_L
P20929	NEB	8019	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I8020V	False	False	False	False	False	P20929_8019_V
P20929	NEB	5483	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	A5484T	False	False	False	False	False	P20929_5483_T
P20929	NEB	3017	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D3018N	False	False	False	False	False	P20929_3017_N
P20929	NEB	2778	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I2779V	False	False	False	False	False	P20929_2778_V
P20929	NEB	772	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	Y773C	False	True	False	True	False	P20929_772_C
P20929	NEB	618	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	K619R	False	False	False	False	False	P20929_618_R
O60662	KLHL41	2	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	S3F	True	False	False	False	True	O60662_2_F
O60662	KLHL41	270	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	A271T	False	False	False	False	False	O60662_270_T
O60662	KLHL41	287	L	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	L288R	False	False	False	False	False	O60662_287_R
O60662	KLHL41	480	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	M481V	False	False	False	False	False	O60662_480_V
P12111	COL6A3	1389	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	S1390L	False	False	False	False	False	P12111_1389_L
P31483	TIA1	317	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015544041450777202	Cytotoxic granule associated RNA binding protein T	Q318R	False	False	False	False	False	P31483_317_R
Q2TBA0	KLHL40	290	K	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	K291T	False	False	False	False	False	Q2TBA0_290_T
Q2TBA0	KLHL40	513	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	V514M	False	False	False	False	False	Q2TBA0_513_M
Q2TBA0	KLHL40	579	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	L580I	False	False	False	False	False	Q2TBA0_579_I
Q96KG7	MEGF10	205	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.12982456140350876	Multiple epidermal growth factor-like domains prot	V206I	False	False	False	True	False	Q96KG7_205_I
Q96KG7	MEGF10	1071	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.12982456140350876	Multiple epidermal growth factor-like domains prot	R1072K	False	False	False	True	False	Q96KG7_1071_K
Q9UBF9	MYOT	190	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	G191R	False	False	False	False	False	Q9UBF9_190_R
Q99715	COL12A1	3057	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	G3058S	False	False	False	False	False	Q99715_3057_S
Q99715	COL12A1	2993	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	S2994P	False	False	False	False	False	Q99715_2993_P
Q99715	COL12A1	2745	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	V2746A	False	False	False	False	False	Q99715_2745_A
Q99715	COL12A1	2595	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	I2596V	False	False	False	False	False	Q99715_2595_V
Q99715	COL12A1	2159	E	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	E2160V	False	False	False	False	False	Q99715_2159_V
Q99715	COL12A1	2093	T	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T2094N	False	False	False	False	False	Q99715_2093_N
Q99715	COL12A1	1741	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	R1742H	False	False	False	False	False	Q99715_1741_H
Q99715	COL12A1	1737	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	I1738T	False	False	False	False	False	Q99715_1737_T
Q99715	COL12A1	758	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	P759S	False	False	False	False	False	Q99715_758_S
Q9UKA2	FBXL4	34	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	H35Q	True	False	False	True	True	Q9UKA2_34_Q
Q14315	FLNC	692	D	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	D693A	False	False	False	False	False	Q14315_692_A
Q14315	FLNC	708	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A709T	False	False	False	False	False	Q14315_708_T
Q14315	FLNC	1240	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1241C	False	True	False	True	False	Q14315_1240_C
Q14315	FLNC	1791	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1792T	False	False	False	False	False	Q14315_1791_T
Q9HBG4	ATP6V0A4	1	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01904761904761905	V-type proton ATPase 116 kDa subunit a 4 (V-ATPase	V2A	True	False	False	False	True	Q9HBG4_1_A
P23378	GLDC	793	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A794T	False	False	False	False	False	P23378_793_T
P51530	DNA2	809	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02830188679245283	DNA replication ATP-dependent helicase/nuclease DN	F810L	False	False	False	False	False	P51530_809_L
Q14CZ8	HEPACAM	323	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	N324S	False	False	False	False	False	Q14CZ8_323_S
Q14CZ8	HEPACAM	217	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	M218V	False	False	False	False	False	Q14CZ8_217_V
Q96AD5	PNPLA2	251	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	N252K	False	False	False	False	False	Q96AD5_251_K
Q96AD5	PNPLA2	476	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	P477R	False	False	False	False	False	Q96AD5_476_R
Q96AD5	PNPLA2	480	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	L481P	False	False	False	False	False	Q96AD5_480_P
Q12860	CNTN1	301	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	L302P	False	False	False	False	False	Q12860_301_P
Q12860	CNTN1	928	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	V929I	False	False	False	False	False	Q12860_928_I
Q96MF2	STAC3	280	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019230769230769232	SH3 and cysteine-rich domain-containing protein 3	N281S	False	False	False	False	False	Q96MF2_280_S
Q96MF2	STAC3	118	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019230769230769232	SH3 and cysteine-rich domain-containing protein 3	R119C	False	True	False	True	False	Q96MF2_118_C
C9JR72	KBTBD13	29	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	G30D	True	False	False	True	True	C9JR72_29_D
C9JR72	KBTBD13	54	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	A55T	False	False	False	True	False	C9JR72_54_T
C9JR72	KBTBD13	62	Q	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	Q63L	False	False	False	True	False	C9JR72_62_L
C9JR72	KBTBD13	293	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	P294A	False	False	False	True	False	C9JR72_293_A
C9JR72	KBTBD13	454	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	T455A	False	False	False	True	False	C9JR72_454_A
O14647	CHD2	202	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K203R	False	False	False	False	False	O14647_202_R
O14647	CHD2	1573	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1574A	False	False	False	False	False	O14647_1573_A
A2IDD5	CCDC78	163	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	G164S	False	False	False	False	False	A2IDD5_163_S
Q9NZC7	WWOX	178	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	A179T	False	False	False	False	False	Q9NZC7_178_T
Q9NZC7	WWOX	182	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	D183N	False	False	False	False	False	Q9NZC7_182_N
Q9NZC7	WWOX	204	H	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	H205N	False	False	False	False	False	Q9NZC7_204_N
Q9NZC7	WWOX	215	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	L216V	False	False	False	False	False	Q9NZC7_215_V
Q9NZC7	WWOX	281	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	P282A	False	False	False	False	False	Q9NZC7_281_A
Q9NZC7	WWOX	313	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	R314H	False	False	False	False	False	Q9NZC7_313_H
Q9UKX2	MYH2	1591	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	L1592M	False	False	False	False	False	Q9UKX2_1591_M
P10253	GAA	889	V	L	0	ClinVar	reviewed by expert panel	0.015756302521008403	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid ma	V890L	False	False	False	False	False	P10253_889_L
Q9UM47	NOTCH3	2222	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A2223V	False	False	False	True	False	Q9UM47_2222_V
Q9UM47	NOTCH3	2073	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	P2074L	False	False	False	True	False	Q9UM47_2073_L
Q9UM47	NOTCH3	2010	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	V2011I	False	False	False	True	False	Q9UM47_2010_I
Q9UM47	NOTCH3	1951	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	V1952M	False	False	False	True	False	Q9UM47_1951_M
Q9UM47	NOTCH3	1559	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R1560P	False	False	False	True	False	Q9UM47_1559_P
Q9UM47	NOTCH3	1517	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	L1518M	False	False	False	True	False	Q9UM47_1517_M
Q9UM47	NOTCH3	1182	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	V1183M	False	False	False	True	False	Q9UM47_1182_M
Q9UM47	NOTCH3	1132	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	H1133Q	False	False	False	True	False	Q9UM47_1132_Q
Q9UM47	NOTCH3	766	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R767H	False	False	False	True	False	Q9UM47_766_H
Q9UM47	NOTCH3	679	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R680H	False	False	False	True	False	Q9UM47_679_H
Q9UM47	NOTCH3	496	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	S497L	False	False	False	True	False	Q9UM47_496_L
Q9UM47	NOTCH3	495	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	P496L	False	False	False	True	False	Q9UM47_495_L
P21817	RYR1	1108	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R1109K	False	False	False	False	False	P21817_1108_K
Q8N9W5	DNAAF3;DNAAF3-AS1;LOC130065090;TNNI3	333	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012939001848428836	Dynein axonemal assembly factor 3	L334P	False	False	False	False	False	Q8N9W5_333_P
Q8N9W5	DNAAF3;DNAAF3-AS1;TNNI3	291	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012939001848428836	Dynein axonemal assembly factor 3	E292G	False	False	False	False	False	Q8N9W5_291_G
Q8N9W5	DNAAF3;DNAAF3-AS1;TNNI3	176	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012939001848428836	Dynein axonemal assembly factor 3	G177S	False	False	False	False	False	Q8N9W5_176_S
P12110	COL6A2	488	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R489Q	False	False	False	False	False	P12110_488_Q
P12110	COL6A2	866	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R867Q	False	False	False	False	False	P12110_866_Q
Q15049	MLC1	310	V	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	V311E	False	False	False	False	False	Q15049_310_E
Q99996	AKAP9	2828	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	E2829K	False	False	False	False	False	Q99996_2828_K
Q99593	TBX5	278	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017374517374517374	T-box transcription factor TBX5 (T-box protein 5)	R279Q	False	False	False	False	False	Q99593_278_Q
P12883	MYH7	693	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R694H	False	False	False	False	False	P12883_693_H
P12883	MYH7	781	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S782N	False	False	False	False	False	P12883_781_N
P09493	TPM1	83	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D84N	False	False	False	False	False	P09493_83_N
Q14126	DSG2	1088	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	G1089D	False	False	False	False	False	Q14126_1088_D
Q9NNW7	TXNRD2	507	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	R508H	False	False	False	False	False	Q9NNW7_507_H
Q9NNW7	TXNRD2	369	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	I370T	False	False	False	False	False	Q9NNW7_369_T
Q9NNW7	TXNRD2	383	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	G384S	False	False	False	False	False	Q9NNW7_383_S
Q9NNW7	TXNRD2	254	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	G255R	False	False	False	False	False	Q9NNW7_254_R
Q9NNW7	TXNRD2	298	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	S299R	False	False	False	False	False	Q9NNW7_298_R
Q9NNW7	TXNRD2	65	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	A66S	False	False	False	False	False	Q9NNW7_65_S
P11532	DMD	1682	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T1683S	False	False	False	False	False	P11532_1682_S
P11532	DMD	961	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	L962V	False	False	False	False	False	P11532_961_V
Q15878	CACNA1E	351	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	G352R	False	False	False	False	False	Q15878_351_R
P68133	ACTA1	143	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	L144F	False	False	False	False	False	P68133_143_F
P11166	SLC2A1	211	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R212H	False	False	False	False	False	P11166_211_H
P04049	RAF1	168	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	G169R	False	False	False	False	False	P04049_168_R
P47870	GABRB2	302	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	K303N	False	False	False	False	False	P47870_302_N
P14867	GABRA1	213	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	R214C	False	True	False	True	False	P14867_213_C
P14867	GABRA1	213	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	R214H	False	False	False	False	False	P14867_213_H
Q9H3S4	TPK1	141	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	L142F	False	False	False	False	False	Q9H3S4_141_F
P61764	STXBP1	425	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L426P	False	False	False	False	False	P61764_425_P
P05165	PCCA	268	H	R	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	H269R	False	False	False	False	False	P05165_268_R
P09471	GNAO1	208	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R209C	False	True	False	True	False	P09471_208_C
P23434	GCSH	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023121387283236993	Glycine cleavage system H protein, mitochondrial (	M1V	True	False	False	False	True	P23434_0_V
Q5TEU4	NDUFAF5	108	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	K109N	False	False	False	False	False	Q5TEU4_108_N
Q14721	KCNB1	311	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R312C	False	True	False	True	False	Q14721_311_C
O43526	KCNQ2	580	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R581G	False	False	False	False	False	O43526_580_G
Q05639	EEF1A2	422	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	R423C	False	True	False	True	False	Q05639_422_C
Q96QS3	ARX	329	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R330H	False	False	False	False	False	Q96QS3_329_H
Q9GZZ9	UBA5	370	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	A371T	False	False	False	False	False	Q9GZZ9_370_T
Q9GZZ9	UBA5	54	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	R55H	False	False	False	False	False	Q9GZZ9_54_H
Q9GZZ9	UBA5	259	V	M	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	V260M	False	False	False	False	False	Q9GZZ9_259_M
Q9GZZ9	UBA5	388	D	Y	1	ClinVar	no assertion criteria provided	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	D389Y	False	False	False	False	False	Q9GZZ9_388_Y
Q9GZZ9	UBA5	167	G	E	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	G168E	False	False	False	False	False	Q9GZZ9_167_E
P40926	MDH2	132	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Malate dehydrogenase, mitochondrial (EC 1.1.1.37)	P133L	False	False	False	False	False	P40926_132_L
P40926	MDH2	206	P	L	1	ClinVar	no assertion criteria provided	0.023668639053254437	Malate dehydrogenase, mitochondrial (EC 1.1.1.37)	P207L	False	False	False	False	False	P40926_206_L
Q5T481	RBM20	634	S	C	1	ClinVar	no assertion criteria provided	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S635C	False	True	False	True	False	Q5T481_634_C
P02511	CRYAB	108	D	G	1	ClinVar	criteria provided, single submitter	0.0	Alpha-crystallin B chain (Alpha(B)-crystallin) (He	D109G	False	False	False	False	False	P02511_108_G
P19429	TNNI3	126	D	Y	1	ClinVar	no assertion criteria provided	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	D127Y	False	False	False	False	False	P19429_126_Y
P18505	GABRB1	245	F	S	1	ClinVar	no assertion criteria provided	0.010548523206751054	Gamma-aminobutyric acid receptor subunit beta-1 (G	F246S	False	False	False	False	False	P18505_245_S
P18505	GABRB1	286	T	I	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Gamma-aminobutyric acid receptor subunit beta-1 (G	T287I	False	False	False	False	False	P18505_286_I
Q00577	PURA	236	S	F	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	S237F	False	False	False	False	False	Q00577_236_F
P40926	MDH2	36	G	R	1	ClinVar	no assertion criteria provided	0.023668639053254437	Malate dehydrogenase, mitochondrial (EC 1.1.1.37)	G37R	True	False	False	False	True	P40926_36_R
O15399	GRIN2D	666	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	V667I	False	False	False	False	False	O15399_666_I
Q9Y3A0	COQ4	67	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	D68H	False	False	False	False	False	Q9Y3A0_67_H
P54098	POLG	307	Q	H	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Q308H	False	False	False	False	False	P54098_307_H
Q8NCW5	NAXE	217	D	V	1	ClinVar	no assertion criteria provided	0.020833333333333332	NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipopr	D218V	False	False	False	False	False	Q8NCW5_217_V
P12235	SLC25A4	235	R	P	1	ClinVar	no assertion criteria provided	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	R236P	False	False	False	False	False	P12235_235_P
Q9BTW9	TBCD	771	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	R772C	False	True	False	True	False	Q9BTW9_771_C
Q9BTW9	TBCD	920	A	T	1	ClinVar	no assertion criteria provided	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	A921T	False	False	False	False	False	Q9BTW9_920_T
Q9BTW9	TBCD	386	M	R	1	ClinVar	no assertion criteria provided	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	M387R	False	False	False	False	False	Q9BTW9_386_R
Q9BTW9	TBCD	936	P	R	1	ClinVar	no assertion criteria provided	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	P937R	False	False	False	False	False	Q9BTW9_936_R
Q9BTW9	TBCD	376	R	Q	1	ClinVar	no assertion criteria provided	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	R377Q	False	False	False	False	False	Q9BTW9_376_Q
Q16620	NTRK2	433	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0267639902676399	BDNF/NT-3 growth factors receptor (EC 2.7.10.1) (G	Y434C	False	True	False	True	False	Q16620_433_C
Q13224	GRIN2B	681	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R682H	False	False	False	False	False	Q13224_681_H
P16389	KCNA2	293	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R294H	False	False	False	False	False	P16389_293_H
P68133	ACTA1	147	G	R	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G148R	False	False	False	False	False	P68133_147_R
P11166	SLC2A1	399	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R400H	False	False	False	False	False	P11166_399_H
P35498	SCN1A	932	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	H933Y	False	False	False	False	False	P35498_932_Y
P12111	COL6A3	2052	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2053V	False	False	False	False	False	P12111_2052_V
P35523	CLCN1	484	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	M485V	False	False	False	False	False	P35523_484_V
P10589	NR2F1	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	M1T	True	False	False	True	True	P10589_0_T
P10589	NR2F1	141	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R142C	False	True	False	True	False	P10589_141_C
Q14738	PPP2R5D	206	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009966777408637873	Serine/threonine-protein phosphatase 2A 56 kDa reg	W207R	False	False	False	False	False	Q14738_206_R
P61764	STXBP1	41	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	S42P	True	False	False	False	True	P61764_41_P
P61764	STXBP1	405	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R406H	False	False	False	False	False	P61764_405_H
P55072	VCP	158	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R159C	False	True	False	True	False	P55072_158_C
P61764	STXBP1	353	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C354R	False	False	True	True	False	P61764_353_R
Q05193	DNM1	236	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R237W	False	False	False	False	False	Q05193_236_W
Q9BPX6	MICU1	128	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014705882352941176	Calcium uptake protein 1, mitochondrial (Atopy-rel	R129P	False	False	False	False	False	Q9BPX6_128_P
Q13224	GRIN2B	515	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N516S	False	False	False	False	False	Q13224_515_S
P49770	EIF2B2	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	M1I	True	False	False	False	True	P49770_0_I
P54098	POLG	956	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A957V	False	False	False	False	False	P54098_956_V
P54098	POLG	806	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R807C	False	True	False	True	False	P54098_806_C
P54098	POLG	308	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R309C	False	True	False	True	False	P54098_308_C
Q05639	EEF1A2	123	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	E124K	False	False	False	False	False	Q05639_123_K
P09471	GNAO1	39	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G40E	True	False	False	False	True	P09471_39_E
O43526	KCNQ2	792	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V793L	False	False	False	False	False	O43526_792_L
P54098	POLG	913	T	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	T914P	False	False	False	False	False	P54098_913_P
Q9BTW9	TBCD	474	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	A475T	False	False	False	False	False	Q9BTW9_474_T
O43526	KCNQ2	209	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R210H	False	False	False	False	False	O43526_209_H
Q05639	EEF1A2	90	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	D91N	False	False	False	False	False	Q05639_90_N
P12109	COL6A1	280	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G281E	False	False	False	False	False	P12109_280_E
P09471	GNAO1	39	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G40W	True	False	False	False	True	P09471_39_W
Q99714	HSD17B10	211	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	K212E	False	False	False	False	False	Q99714_211_E
P13637	ATP1A3	774	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	P775L	False	False	False	False	False	P13637_774_L
O43526	KCNQ2	209	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R210P	False	False	False	False	False	O43526_209_P
Q9H6K4	OPA3	137	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01675977653631285	Optic atrophy 3 protein	A138T	False	False	False	False	False	Q9H6K4_137_T
P08559	PDHA1	213	W	R	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	W214R	False	False	False	True	False	P08559_213_R
P20929	NEB	6428	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	A6429D	False	False	False	False	False	P20929_6428_D
P20929	NEB	6428	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	A6429T	False	False	False	False	False	P20929_6428_T
P12110	COL6A2	866	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R867W	False	False	False	False	False	P12110_866_W
P19878	NCF2	418	N	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017110266159695818	Neutrophil cytosol factor 2 (NCF-2) (67 kDa neutro	N419I	False	False	False	False	False	P19878_418_I
P10253	GAA	717	V	I	0	ClinVar	reviewed by expert panel	0.015756302521008403	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid ma	V718I	False	False	False	False	False	P10253_717_I
O75112	LDB3	431	S	P	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S432P	False	False	False	False	False	O75112_431_P
P12109	COL6A1	332	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	V333M	False	False	False	False	False	P12109_332_M
P11532	DMD	394	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R395Q	False	False	False	False	False	P11532_394_Q
P12109	COL6A1	340	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G341V	False	False	False	False	False	P12109_340_V
P35498	SCN1A	421	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V422M	False	False	False	False	False	P35498_421_M
Q16585	SGCB	266	R	C	0	ClinVar	reviewed by expert panel	0.018867924528301886	Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-asso	R267C	False	True	False	True	False	Q16585_266_C
Q9UKX2	MYH2	1459	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	A1460G	False	False	False	False	False	Q9UKX2_1459_G
P12111	COL6A3	2934	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A2935V	False	False	False	False	False	P12111_2934_V
Q9Y223	GNE	377	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	D378Y	False	False	False	False	False	Q9Y223_377_Y
P10253	GAA	122	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015756302521008403	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid ma	G123E	False	False	False	False	False	P10253_122_E
P10253	GAA	447	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015756302521008403	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid ma	S448T	False	False	False	False	False	P10253_447_T
O00555	CACNA1A	892	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R893Q	False	False	False	False	False	O00555_892_Q
P12111	COL6A3	2819	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	V2820I	False	False	False	False	False	P12111_2819_I
P12109	COL6A1	304	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G305E	False	False	False	False	False	P12109_304_E
P12110	COL6A2	300	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G301S	False	False	False	False	False	P12110_300_S
P35498	SCN1A	559	R	C	0	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R560C	False	True	False	True	False	P35498_559_C
P12111	COL6A3	409	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	D410N	False	False	False	False	False	P12111_409_N
P55072	VCP	26	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	I27V	True	False	False	False	True	P55072_26_V
P10253	GAA	428	Q	R	0	ClinVar	reviewed by expert panel	0.015756302521008403	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid ma	Q429R	False	False	False	False	False	P10253_428_R
P11532	DMD	231	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	I232M	False	False	False	False	False	P11532_231_M
P12110	COL6A2	261	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G262D	False	False	False	False	False	P12110_261_D
P12111	COL6A3	2064	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2065R	False	False	False	False	False	P12111_2064_R
P12110	COL6A2	1005	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	A1006V	False	False	False	False	False	P12110_1005_V
Q14315	FLNC	1921	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1922T	False	False	False	False	False	Q14315_1921_T
P12111	COL6A3	3005	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	K3006R	False	False	False	False	False	P12111_3005_R
P12110	COL6A2	770	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	N771K	False	False	False	False	False	P12110_770_K
Q99250	SCN2A	904	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K905E	False	False	False	False	False	Q99250_904_E
P12109	COL6A1	340	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G341C	False	True	False	True	False	P12109_340_C
P12110	COL6A2	279	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G280R	False	False	False	False	False	P12110_279_R
O75923	DYSF	1806	R	W	1	ClinVar	reviewed by expert panel	0.017788461538461538	Dysferlin (Dystrophy-associated fer-1-like protein	R1807W	False	False	False	False	False	O75923_1806_W
Q16854	DGUOK	117	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	R118H	False	False	False	False	False	Q16854_117_H
O00330	PDHX	22	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	R23C	True	True	False	True	True	O00330_22_C
Q15772	SPEG	2188	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01499846954392409	Striated muscle preferentially expressed protein k	P2189L	False	False	False	False	False	Q15772_2188_L
O00555	CACNA1A	265	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G266S	False	False	False	False	False	O00555_265_S
P12109	COL6A1	301	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G302R	False	False	False	False	False	P12109_301_R
P20929	NEB	6431	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	Q6432R	False	False	False	False	False	P20929_6431_R
P12111	COL6A3	2070	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2071D	False	False	False	False	False	P12111_2070_D
Q9Y223	GNE	207	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	D208E	False	False	False	False	False	Q9Y223_207_E
Q15772	SPEG	3078	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01499846954392409	Striated muscle preferentially expressed protein k	H3079R	False	False	False	False	False	Q15772_3078_R
P12111	COL6A3	1869	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	S1870N	False	False	False	False	False	P12111_1869_N
P12110	COL6A2	282	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G283E	False	False	False	False	False	P12110_282_E
P11532	DMD	307	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T308I	False	False	False	False	False	P11532_307_I
P12109	COL6A1	310	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G311D	False	False	False	False	False	P12109_310_D
P12111	COL6A3	2073	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2074S	False	False	False	False	False	P12111_2073_S
Q14315	FLNC	1168	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	K1169R	False	False	False	False	False	Q14315_1168_R
Q14315	FLNC	658	L	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	L659R	False	False	False	False	False	Q14315_658_R
Q9Y223	GNE	161	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R162C	False	True	False	True	False	Q9Y223_161_C
P11532	DMD	2046	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	Q2047R	False	False	False	False	False	P11532_2046_R
Q9Y223	GNE	668	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	G669R	False	False	False	False	False	Q9Y223_668_R
O95299	NDUFA10	1	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A2G	True	False	False	False	True	O95299_1_G
P10253	GAA	428	Q	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015756302521008403	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid ma	Q429E	False	False	False	False	False	P10253_428_E
O75306	NDUFS2	19	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	P20T	True	False	False	False	True	O75306_19_T
Q13698	CACNA1S	1651	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R1652C	False	True	False	True	False	Q13698_1651_C
Q13698	CACNA1S	1851	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	G1852R	False	False	False	False	False	Q13698_1851_R
Q13698	CACNA1S	556	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R557H	False	False	False	False	False	Q13698_556_H
Q13698	CACNA1S	433	F	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	F434S	False	False	False	False	False	Q13698_433_S
Q13698	CACNA1S	1838	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	P1839S	False	False	False	False	False	Q13698_1838_S
Q13698	CACNA1S	1582	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	E1583K	False	False	False	False	False	Q13698_1582_K
Q13698	CACNA1S	1110	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	V1111M	False	False	False	False	False	Q13698_1110_M
Q13698	CACNA1S	604	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	I605V	False	False	False	False	False	Q13698_604_V
Q13698	CACNA1S	593	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R594C	False	True	False	True	False	Q13698_593_C
P11166	SLC2A1	103	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	F104L	False	False	False	False	False	P11166_103_L
Q9NYY8	FASTKD2	14	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023943661971830985	FAST kinase domain-containing protein 2, mitochond	S15N	True	False	False	False	True	Q9NYY8_14_N
P20929	NEB	1275	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	P1276T	False	False	False	False	False	P20929_1275_T
Q99250	SCN2A	1014	D	N	0	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D1015N	False	False	False	False	False	Q99250_1014_N
P20929	NEB	1989	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	E1990K	False	False	False	False	False	P20929_1989_K
O75746	SLC25A12	472	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	R473Q	False	False	False	False	False	O75746_472_Q
P12111	COL6A3	2908	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A2909T	False	False	False	False	False	P12111_2908_T
Q9H845	ACAD9	558	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R559S	False	False	False	False	False	Q9H845_558_S
Q96RP9	GFM1	214	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	V215I	False	False	False	False	False	Q96RP9_214_I
Q99574	SERPINI1	35	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	R36S	True	False	False	False	True	Q99574_35_S
Q99574	SERPINI1	134	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	A135V	False	False	False	False	False	Q99574_134_V
P05166	PCCB	278	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	P279L	False	False	False	False	False	P05166_278_L
Q99574	SERPINI1	72	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	R73H	False	False	False	False	False	Q99574_72_H
Q9H845	ACAD9	443	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A444V	False	False	False	False	False	Q9H845_443_V
Q99574	SERPINI1	13	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	S14G	True	False	False	False	True	Q99574_13_G
Q99574	SERPINI1	96	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	V97I	False	False	False	False	False	Q99574_96_I
Q99574	SERPINI1	279	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	A280T	False	False	False	False	False	Q99574_279_T
Q99574	SERPINI1	6	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	F7L	True	False	False	False	True	Q99574_6_L
Q99574	SERPINI1	172	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	D173G	False	False	False	False	False	Q99574_172_G
Q99574	SERPINI1	394	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	M395V	False	False	False	False	False	Q99574_394_V
P07333	CSF1R	506	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	T507M	False	False	False	False	False	P07333_506_M
P07333	CSF1R	240	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	N241D	False	False	False	False	False	P07333_240_D
P07333	CSF1R	721	T	N	0	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	T722N	False	False	False	False	False	P07333_721_N
P07333	CSF1R	267	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V268I	False	False	False	False	False	P07333_267_I
P07333	CSF1R	244	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A245T	False	False	False	False	False	P07333_244_T
P07333	CSF1R	89	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	P90T	False	False	False	False	False	P07333_89_T
P07333	CSF1R	74	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	T75I	False	False	False	False	False	P07333_74_I
O00584	RNASET2	246	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04296875	Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)	F247L	False	False	False	True	False	O00584_246_L
Q9NZC2	TREM2	95	T	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	T96K	False	False	False	False	False	Q9NZC2_95_K
P35523	CLCN1	105	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	L106V	False	False	False	False	False	P35523_105_V
P35523	CLCN1	436	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	A437T	False	False	False	False	False	P35523_436_T
P35523	CLCN1	726	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	P727L	False	False	False	False	False	P35523_726_L
P35523	CLCN1	735	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	T736I	False	False	False	False	False	P35523_735_I
O00584	RNASET2	235	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04296875	Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)	R236W	False	False	False	True	False	O00584_235_W
O00584	RNASET2	214	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04296875	Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)	E215K	False	False	False	True	False	O00584_214_K
P07333	CSF1R	920	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	R921W	False	False	False	False	False	P07333_920_W
P07333	CSF1R	919	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	E920D	False	False	False	False	False	P07333_919_D
P07333	CSF1R	278	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V279M	False	False	False	False	False	P07333_278_M
P07333	CSF1R	244	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A245S	False	False	False	False	False	P07333_244_S
P07333	CSF1R	4	V	L	0	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V5L	True	False	False	False	True	P07333_4_L
P07333	CSF1R	746	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	G747R	False	False	False	False	False	P07333_746_R
P07333	CSF1R	535	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	L536V	False	False	False	False	False	P07333_535_V
P07333	CSF1R	412	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	G413S	False	False	False	False	False	P07333_412_S
P07333	CSF1R	361	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	H362R	False	False	False	False	False	P07333_361_R
P07333	CSF1R	31	V	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V32G	True	False	False	False	True	P07333_31_G
Q5JTZ9	AARS2	553	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R554H	False	False	False	False	False	Q5JTZ9_553_H
P31040	SDHA	54	Y	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	Y55H	False	False	False	False	False	P31040_54_H
Q9NZC2	TREM2	210	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	L211P	False	False	False	False	False	Q9NZC2_210_P
Q5JTZ9	AARS2	361	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	M362L	False	False	False	False	False	Q5JTZ9_361_L
P23378	GLDC	734	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	V735L	False	False	False	False	False	P23378_734_L
P35523	CLCN1	28	H	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	H29P	True	False	False	False	True	P35523_28_P
P35523	CLCN1	8	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	R9H	True	False	False	False	True	P35523_8_H
P35523	CLCN1	153	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	Q154R	False	False	False	False	False	P35523_153_R
P35523	CLCN1	613	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	K614N	False	False	False	False	False	P35523_613_N
Q14CZ8	HEPACAM	283	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	Q284R	False	False	False	False	False	Q14CZ8_283_R
Q14CZ8	HEPACAM	2	R	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	R3T	True	False	False	False	True	Q14CZ8_2_T
P23378	GLDC	461	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L462V	False	False	False	False	False	P23378_461_V
P23378	GLDC	290	C	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C291G	False	False	True	True	False	P23378_290_G
P23378	GLDC	223	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R224H	False	False	False	False	False	P23378_223_H
O00330	PDHX	100	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	T101A	False	False	False	False	False	O00330_100_A
O00330	PDHX	177	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	G178R	False	False	False	False	False	O00330_177_R
Q14896	MYBPC3	951	P	A	0	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	P952A	False	False	False	False	False	Q14896_951_A
Q13813	SPTAN1	531	K	R	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	K532R	False	False	False	False	False	Q13813_531_R
P43897	TSFM	90	W	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	W91G	False	False	False	False	False	P43897_90_G
O14521	SDHD	26	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	R27K	True	False	False	True	True	O14521_26_K
P13533	MYH6	1803	Q	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	Q1804K	False	False	False	False	False	P13533_1803_K
C9JR72	KBTBD13	250	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	T251A	False	False	False	True	False	C9JR72_250_A
Q9UQD0	SCN8A	1147	V	M	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1148M	False	False	False	False	False	Q9UQD0_1147_M
Q96AD5	PNPLA2	488	S	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	S489I	False	False	False	False	False	Q96AD5_488_I
Q9Y2Z4	YARS2	190	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	G191V	False	False	False	False	False	Q9Y2Z4_190_V
C9JR72	KBTBD13	171	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	D172E	False	False	False	True	False	C9JR72_171_E
Q9UM47	NOTCH3	321	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	V322M	False	False	False	True	False	Q9UM47_321_M
O43914	TYROBP	22	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02654867256637168	TYRO protein tyrosine kinase-binding protein (DNAX	R23H	True	False	False	False	True	O43914_22_H
Q5JPH6	EARS2	316	G	C	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	G317C	False	True	False	True	False	Q5JPH6_316_C
Q5JPH6	EARS2	193	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	V194M	False	False	False	False	False	Q5JPH6_193_M
P12109	COL6A1	491	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	A492V	False	False	False	False	False	P12109_491_V
P12110	COL6A2	1000	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	D1001E	False	False	False	False	False	P12110_1000_E
C9JR72	KBTBD13	2	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	R3W	True	False	False	True	True	C9JR72_2_W
C9JR72	KBTBD13	120	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	V121M	False	False	False	True	False	C9JR72_120_M
C9JR72	KBTBD13	281	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	A282T	False	False	False	True	False	C9JR72_281_T
O75208	COQ9	112	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	A113T	False	False	False	False	False	O75208_112_T
P50570	DNM2	855	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	S856N	False	False	False	False	False	P50570_855_N
Q9UM47	NOTCH3	1926	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A1927T	False	False	False	True	False	Q9UM47_1926_T
Q9UM47	NOTCH3	1892	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R1893Q	False	False	False	True	False	Q9UM47_1892_Q
Q9UM47	NOTCH3	586	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R587H	False	False	False	True	False	Q9UM47_586_H
P21817	RYR1	3117	A	V	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A3118V	False	False	False	False	False	P21817_3117_V
Q9UM47	NOTCH3	1449	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A1450T	False	False	False	True	False	Q9UM47_1449_T
Q9UM47	NOTCH3	1174	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R1175W	False	False	False	True	False	Q9UM47_1174_W
Q9UM47	NOTCH3	169	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	H170R	False	False	False	True	False	Q9UM47_169_R
Q9UM47	NOTCH3	112	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R113Q	False	False	False	True	False	Q9UM47_112_Q
P12109	COL6A1	849	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	R850S	False	False	False	False	False	P12109_849_S
P12110	COL6A2	834	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	V835I	False	False	False	False	False	P12110_834_I
P12109	COL6A1	328	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G329R	False	False	False	False	False	P12109_328_R
P12109	COL6A1	672	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	H673Q	False	False	False	False	False	P12109_672_Q
O95831	AIFM1	87	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	M88V	False	False	False	False	False	O95831_87_V
Q8N9W5	DNAAF3;TNNI3	468	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012939001848428836	Dynein axonemal assembly factor 3	V469M	False	False	False	False	False	Q8N9W5_468_M
P63267	ACTG2	204	A	T	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	A205T	False	False	False	False	False	P63267_204_T
P30084	ECHS1	53	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	R54C	False	True	False	True	False	P30084_53_C
O43526	KCNQ2	577	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M578V	False	False	False	False	False	O43526_577_V
O43526	KCNQ2	552	R	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R553L	False	False	False	False	False	O43526_552_L
O43526	KCNQ2	540	R	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R541G	False	False	False	False	False	O43526_540_G
O43526	KCNQ2	350	L	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L351F	False	False	False	False	False	O43526_350_F
O43526	KCNQ2	343	W	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W344R	False	False	False	False	False	O43526_343_R
O43526	KCNQ2	324	R	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R325G	False	False	False	False	False	O43526_324_G
O43526	KCNQ2	308	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A309V	False	False	False	False	False	O43526_308_V
O43526	KCNQ2	303	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F304S	False	False	False	False	False	O43526_303_S
O43526	KCNQ2	300	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G301S	False	False	False	False	False	O43526_300_S
O43526	KCNQ2	295	T	P	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T296P	False	False	False	False	False	O43526_295_P
O43526	KCNQ2	289	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G290S	False	False	False	False	False	O43526_289_S
O43526	KCNQ2	275	T	I	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T276I	False	False	False	False	False	O43526_275_I
O43526	KCNQ2	267	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L268F	False	False	False	False	False	O43526_267_F
O43526	KCNQ2	252	A	T	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A253T	False	False	False	False	False	O43526_252_T
O43526	KCNQ2	216	T	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T217A	False	False	False	False	False	O43526_216_A
O43526	KCNQ2	204	I	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I205V	False	False	False	False	False	O43526_204_V
O43526	KCNQ2	202	L	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L203P	False	False	False	False	False	O43526_202_P
O43526	KCNQ2	200	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R201H	False	False	False	False	False	O43526_200_H
O43526	KCNQ2	188	G	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G189V	False	False	False	False	False	O43526_188_V
O43526	KCNQ2	174	V	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V175L	False	False	False	False	False	O43526_174_L
O43526	KCNQ2	158	G	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G159R	False	False	False	False	False	O43526_158_R
O43526	KCNQ2	113	T	I	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T114I	False	False	False	False	False	O43526_113_I
O43526	KCNQ2	113	T	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T114A	False	False	False	False	False	O43526_113_A
O95831	AIFM1	478	Q	R	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	Q479R	False	False	False	False	False	O95831_478_R
Q9Y223	GNE	507	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	L508S	False	False	False	False	False	Q9Y223_507_S
Q9Y223	GNE	420	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	V421A	False	False	False	False	False	Q9Y223_420_A
P15924	DSP	615	Q	P	1	ClinVar	no assertion criteria provided	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Q616P	False	False	False	False	False	P15924_615_P
P15924	DSP	617	H	P	1	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	H618P	False	False	False	False	False	P15924_617_P
P15924	DSP	621	L	P	1	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	L622P	False	False	False	False	False	P15924_621_P
Q9NX14	NDUFB11	120	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006535947712418301	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	E121K	False	False	False	False	False	Q9NX14_120_K
O95299	NDUFA10	293	L	P	1	ClinVar	no assertion criteria provided	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	L294P	False	False	False	False	False	O95299_293_P
O60930	RNASEH1	141	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Ribonuclease H1 (RNase H1) (EC 3.1.26.4) (Ribonucl	V142I	False	False	False	False	False	O60930_141_I
O60930	RNASEH1	184	A	V	1	ClinVar	no assertion criteria provided	0.017482517482517484	Ribonuclease H1 (RNase H1) (EC 3.1.26.4) (Ribonucl	A185V	False	False	False	False	False	O60930_184_V
Q15813	TBCE	154	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020872865275142316	Tubulin-specific chaperone E (Tubulin-folding cofa	I155N	False	False	False	False	False	Q15813_154_N
Q9H845	ACAD9	562	H	D	1	ClinVar	no assertion criteria provided	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	H563D	False	False	False	False	False	Q9H845_562_D
Q5TEU4	NDUFAF5	249	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	G250V	False	False	False	False	False	Q5TEU4_249_V
Q330K2	NDUFAF6	268	H	D	1	ClinVar	no assertion criteria provided	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	H269D	False	False	False	False	False	Q330K2_268_D
Q330K2	NDUFAF6	75	S	P	1	ClinVar	no assertion criteria provided	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	S76P	False	False	False	False	False	Q330K2_75_P
Q330K2	NDUFAF6	68	D	V	1	ClinVar	no assertion criteria provided	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	D69V	False	False	False	False	False	Q330K2_68_V
Q8WU10	PYROXD1	371	Q	H	1	ClinVar	criteria provided, single submitter	0.022	Pyridine nucleotide-disulfide oxidoreductase domai	Q372H	False	False	False	False	False	Q8WU10_371_H
Q8WU10	PYROXD1	154	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022	Pyridine nucleotide-disulfide oxidoreductase domai	N155S	False	False	False	False	False	Q8WU10_154_S
Q8NI60	COQ8A	298	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R299W	False	False	False	False	False	Q8NI60_298_W
P35498	SCN1A	975	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M976T	False	False	False	False	False	P35498_975_T
P35498	SCN1A	864	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R865Q	False	False	False	False	False	P35498_864_Q
P35498	SCN1A	344	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C345F	False	False	True	True	False	P35498_344_F
P35498	SCN1A	1748	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1749R	False	False	False	False	False	P35498_1748_R
P11166	SLC2A1	139	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	V140M	False	False	False	False	False	P11166_139_M
P35498	SCN1A	1854	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1855L	False	False	False	False	False	P35498_1854_L
P35498	SCN1A	1440	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1441T	False	False	False	False	False	P35498_1440_T
P35498	SCN1A	787	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E788K	False	False	False	False	False	P35498_787_K
Q9H845	ACAD9	171	G	R	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	G172R	False	False	False	False	False	Q9H845_171_R
Q13144	EIF2B5	298	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R299H	False	False	False	False	False	Q13144_298_H
O76024	WFS1	125	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	A126T	False	False	False	False	False	O76024_125_T
P08243	ASNS	518	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R519H	False	False	False	False	False	P08243_518_H
P30084	ECHS1	272	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	K273E	False	False	False	False	False	P30084_272_E
P61764	STXBP1	550	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R551L	False	False	False	False	False	P61764_550_L
Q5JUK3	KCNT1	436	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	L437F	False	False	False	False	False	Q5JUK3_436_F
Q13936	CACNA1C	517	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01981089599279604	Voltage-dependent L-type calcium channel subunit a	R518H	False	False	False	False	False	Q13936_517_H
P54098	POLG	965	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L966R	False	False	False	False	False	P54098_965_R
Q9Y4W6	AFG3L2	321	E	K	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	E322K	False	False	False	False	False	Q9Y4W6_321_K
Q14721	KCNB1	302	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R303Q	False	False	False	False	False	Q14721_302_Q
O43526	KCNQ2	559	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R560Q	False	False	False	False	False	O43526_559_Q
O43526	KCNQ2	258	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D259G	False	False	False	False	False	O43526_258_G
P13637	ATP1A3	705	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G706R	False	False	False	False	False	P13637_705_R
Q9P2X0	DPM3	45	L	Q	1	ClinVar	criteria provided, single submitter	0.03260869565217391	Dolichol-phosphate mannosyltransferase subunit 3 (	L46Q	True	False	False	True	True	Q9P2X0_45_Q
P11166	SLC2A1	133	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G134S	False	False	False	False	False	P11166_133_S
Q9NY46	SCN3A	874	I	T	1	ClinVar	reviewed by expert panel	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	I875T	False	False	False	False	False	Q9NY46_874_T
P41180	CASR	816	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.032467532467532464	Extracellular calcium-sensing receptor (CaR) (CaSR	V817I	False	False	False	True	False	P41180_816_I
P04181	OAT	291	K	R	1	ClinVar	criteria provided, single submitter	0.01366742596810934	Ornithine aminotransferase, mitochondrial (EC 2.6.	K292R	False	False	False	False	False	P04181_291_R
P15328	FOLR1	95	C	Y	1	ClinVar	no assertion criteria provided	0.0622568093385214	Folate receptor alpha (FR-alpha) (Adult folate-bin	C96Y	False	False	True	True	False	P15328_95_Y
Q13224	GRIN2B	667	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D668N	False	False	False	False	False	Q13224_667_N
P35711	SOX5	301	P	S	1	ClinVar	criteria provided, single submitter	0.005242463958060288	Transcription factor SOX-5	P302S	False	False	False	False	False	P35711_301_S
Q14204	DYNC1H1	1770	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010331467929401636	Cytoplasmic dynein 1 heavy chain 1 (Cytoplasmic dy	G1771R	False	False	False	False	False	Q14204_1770_R
P49748	ACADVL	452	R	Q	1	ClinVar	reviewed by expert panel	0.010687022900763359	Very long-chain specific acyl-CoA dehydrogenase, m	R453Q	False	False	False	False	False	P49748_452_Q
P21817	RYR1	395	E	K	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E396K	False	False	False	False	False	P21817_395_K
P21817	RYR1	2370	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E2371K	False	False	False	False	False	P21817_2370_K
O43526	KCNQ2	355	L	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L356R	False	False	False	False	False	O43526_355_R
O95831	AIFM1	339	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	M340T	False	False	False	False	False	O95831_339_T
Q5TEU4	NDUFAF5	96	G	D	1	ClinVar	no assertion criteria provided	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	G97D	False	False	False	False	False	Q5TEU4_96_D
P61764	STXBP1	360	T	I	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	T361I	False	False	False	False	False	P61764_360_I
Q13224	GRIN2B	705	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M706V	False	False	False	False	False	Q13224_705_V
Q13224	GRIN2B	557	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V558I	False	False	False	False	False	Q13224_557_I
P35498	SCN1A	569	S	N	1	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S570N	False	False	False	False	False	P35498_569_N
O00429	DNM1L	378	E	K	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	E379K	False	False	False	False	False	O00429_378_K
Q9UQD0	SCN8A	215	V	G	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V216G	False	False	False	False	False	Q9UQD0_215_G
Q9UQD0	SCN8A	1467	N	S	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1468S	False	False	False	False	False	Q9UQD0_1467_S
P09471	GNAO1	230	Y	C	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Y231C	False	True	False	True	False	P09471_230_C
Q0VAK6	LMOD3	549	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	L550F	False	False	False	False	False	Q0VAK6_549_F
Q0VAK6	LMOD3	334	Q	R	1	ClinVar	criteria provided, single submitter	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	Q335R	False	False	False	False	False	Q0VAK6_334_R
Q9UM47	NOTCH3	606	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R607C	False	True	False	True	False	Q9UM47_606_C
Q9BV79	MECR	231	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0160857908847185	Enoyl-[acyl-carrier-protein] reductase, mitochondr	G232E	False	False	False	False	False	Q9BV79_231_E
Q9BV79	MECR	284	Y	C	1	ClinVar	no assertion criteria provided	0.0160857908847185	Enoyl-[acyl-carrier-protein] reductase, mitochondr	Y285C	False	True	False	True	False	Q9BV79_284_C
P68133	ACTA1	173	P	L	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P174L	False	False	False	False	False	P68133_173_L
Q9Y4W6	AFG3L2	650	R	G	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R651G	False	False	False	False	False	Q9Y4W6_650_G
Q99959	PKP2	317	H	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	H318P	False	False	False	False	False	Q99959_317_P
Q8NI60	COQ8A	507	F	S	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	F508S	False	False	False	False	False	Q8NI60_507_S
Q8NI60	COQ8A	614	G	D	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	G615D	False	False	False	False	False	Q8NI60_614_D
Q96H96	COQ2	131	M	R	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	M132R	False	False	False	False	False	Q96H96_131_R
Q5T2R2	PDSS1	369	S	R	1	ClinVar	no assertion criteria provided	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	S370R	False	False	False	False	False	Q5T2R2_369_R
Q9Y2Z9	COQ6	254	G	R	1	ClinVar	no assertion criteria provided	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	G255R	False	False	False	False	False	Q9Y2Z9_254_R
P10589	NR2F1	137	C	Y	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	C138Y	False	False	True	True	False	P10589_137_Y
Q9UKA2	FBXL4	139	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	V140A	False	False	False	True	False	Q9UKA2_139_A
Q86YT5	SLC13A5	491	L	P	1	ClinVar	criteria provided, single submitter	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	L492P	False	False	False	False	False	Q86YT5_491_P
O00555	CACNA1A	1671	R	P	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1672P	False	False	False	False	False	O00555_1671_P
Q07699	SCN1B	102	D	V	1	ClinVar	no assertion criteria provided	0.03211009174311927	Sodium channel regulatory subunit beta-1	D103V	False	False	False	True	False	Q07699_102_V
Q99250	SCN2A	250	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V251I	False	False	False	False	False	Q99250_250_I
Q99250	SCN2A	895	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A896V	False	False	False	False	False	Q99250_895_V
Q99250	SCN2A	1343	C	Y	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	C1344Y	False	False	True	True	False	Q99250_1343_Y
Q99250	SCN2A	1547	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1548T	False	False	False	False	False	Q99250_1547_T
P35498	SCN1A	615	E	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E616D	False	False	False	False	False	P35498_615_D
O60741	HCN1	390	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G391D	False	False	False	False	False	O60741_390_D
O60741	HCN1	152	M	I	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	M153I	False	False	False	False	False	O60741_152_I
Q96PV0	SYNGAP1	194	A	P	1	ClinVar	criteria provided, single submitter	0.012658227848101266	Ras/Rap GTPase-activating protein SynGAP (Neuronal	A195P	False	False	False	False	False	Q96PV0_194_P
Q9UQD0	SCN8A	977	S	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S978G	False	False	False	False	False	Q9UQD0_977_G
P28472	GABRB3	253	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	S254F	False	False	False	False	False	P28472_253_F
P28472	GABRB3	123	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L124F	False	False	False	False	False	P28472_123_F
O43526	KCNQ2	290	R	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R291S	False	False	False	False	False	O43526_290_S
O43526	KCNQ2	265	D	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D266E	False	False	False	False	False	O43526_265_E
Q6IQ26	DENND5A	1209	R	Q	1	ClinVar	criteria provided, single submitter	0.02097902097902098	DENN domain-containing protein 5A (Rab6-interactin	R1210Q	False	False	False	False	False	Q6IQ26_1209_Q
Q07699	SCN1B	105	I	F	1	ClinVar	no assertion criteria provided	0.03211009174311927	Sodium channel regulatory subunit beta-1	I106F	False	False	False	True	False	Q07699_105_F
P51610	HCFC1	1264	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0171990171990172	Host cell factor 1 (HCF) (HCF-1) (C1 factor) (CFF)	S1265L	False	False	False	False	False	P51610_1264_L
Q96F25	ALG14	10	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023148148148148147	UDP-N-acetylglucosamine transferase subunit ALG14 	A11T	True	False	False	False	True	Q96F25_10_T
Q9P032	NDUFAF4	13	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005714285714285714	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	L14I	True	False	False	False	True	Q9P032_13_I
P57059	SIK1	695	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P696L	False	False	False	False	False	P57059_695_L
P61764	STXBP1	450	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V451I	False	False	False	False	False	P61764_450_I
Q5ST30	VARS2	764	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	V765M	False	False	False	False	False	Q5ST30_764_M
Q5ST30	VARS2	833	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R834C	False	True	False	True	False	Q5ST30_833_C
P12883	MYH7	730	P	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P731T	False	False	False	False	False	P12883_730_T
Q05193	DNM1	846	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	S847L	False	False	False	False	False	Q05193_846_L
Q6PJG6	BRAT1	320	L	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	L321R	False	False	False	True	False	Q6PJG6_320_R
O76039	CDKL5	821	R	H	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R822H	False	False	False	False	False	O76039_821_H
Q96N67	DOCK7	823	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01542056074766355	Dedicator of cytokinesis protein 7	I824T	False	False	False	False	False	Q96N67_823_T
P57059	SIK1	404	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	M405I	False	False	False	False	False	P57059_404_I
Q9Y5C1	ANGPTL3;DOCK7	126	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008695652173913044	Angiopoietin-related protein 3 (Angiopoietin-5) (A	L127F	False	False	False	False	False	Q9Y5C1_126_F
P30084	ECHS1	172	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A173V	False	False	False	False	False	P30084_172_V
P49792	RANBP2	2802	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	I2803V	False	False	False	False	False	P49792_2802_V
O95140	MFN2	675	V	I	0	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V676I	False	False	False	False	False	O95140_675_I
Q9BW92	TARS2	187	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	L188I	False	False	False	False	False	Q9BW92_187_I
Q9BW92	TARS2	484	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	V485I	False	False	False	False	False	Q9BW92_484_I
Q9BW92	TARS2	344	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	H345R	False	False	False	False	False	Q9BW92_344_R
Q9BW92	TARS2	358	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	T359M	False	False	False	False	False	Q9BW92_358_M
P50993	ATP1A2	340	C	F	1	ClinVar	criteria provided, single submitter	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	C341F	False	False	True	True	False	P50993_340_F
Q6PI48	DARS2	193	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	V194I	False	False	False	False	False	Q6PI48_193_I
Q15878	CACNA1E	602	I	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	I603L	False	False	False	False	False	Q15878_602_L
Q9NSE4	IARS2	7	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	R8L	True	False	False	False	True	Q9NSE4_7_L
Q9NSE4	IARS2	575	K	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	K576E	False	False	False	False	False	Q9NSE4_575_E
Q5T440	IBA57	210	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	G211S	False	False	False	False	False	Q5T440_210_S
P68133	ACTA1	45	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M46T	True	False	False	False	True	P68133_45_T
Q9NSE4	IARS2	13	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	A14V	True	False	False	False	True	Q9NSE4_13_V
Q9NSE4	IARS2	521	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	I522V	False	False	False	False	False	Q9NSE4_521_V
Q8NI60	COQ8A	303	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	A304V	False	False	False	False	False	Q8NI60_303_V
Q8NI60	COQ8A	625	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R626C	False	True	False	True	False	Q8NI60_625_C
P68133	ACTA1	205	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A206T	False	False	False	False	False	P68133_205_T
Q5T440	IBA57	44	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	G45A	True	False	False	False	True	Q5T440_44_A
P68133	ACTA1	101	E	K	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E102K	False	False	False	False	False	P68133_101_K
P68133	ACTA1	225	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E226Q	False	False	False	False	False	P68133_225_Q
Q8NI60	COQ8A	276	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	L277P	False	False	False	False	False	Q8NI60_276_P
P68133	ACTA1	246	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G247R	False	False	False	False	False	P68133_246_R
Q5RI15	COX20	13	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	K14R	True	False	False	True	True	Q5RI15_13_R
P11166	SLC2A1	164	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	V165I	False	False	False	False	False	P11166_164_I
P49792	RANBP2	271	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	L272F	False	False	False	False	False	P49792_271_F
P49792	RANBP2	776	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	H777R	False	False	False	False	False	P49792_776_R
P49792	RANBP2	724	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	S725G	False	False	False	False	False	P49792_724_G
P49792	RANBP2	852	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	D853E	False	False	False	False	False	P49792_852_E
P20929	NEB	5556	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I5557V	False	False	False	False	False	P20929_5556_V
P49792	RANBP2	1980	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	S1981T	False	False	False	False	False	P49792_1980_T
P49792	RANBP2	2499	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	T2500I	False	False	False	False	False	P49792_2499_I
P49792	RANBP2	79	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	V80I	False	False	False	False	False	P49792_79_I
P49792	RANBP2	779	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	P780L	False	False	False	False	False	P49792_779_L
P49792	RANBP2	2584	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	I2585T	False	False	False	False	False	P49792_2584_T
P35498	SCN1A	365	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D366H	False	False	False	False	False	P35498_365_H
P20929	NEB	6154	Y	S	0	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	Y6155S	False	False	False	False	False	P20929_6154_S
P20929	NEB	8087	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	M8088I	False	False	False	False	False	P20929_8087_I
P20929	NEB	3115	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	E3116K	False	False	False	False	False	P20929_3115_K
P20929	NEB	2055	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	R2056G	False	False	False	False	False	P20929_2055_G
Q99250	SCN2A	922	W	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	W923R	False	False	False	False	False	Q99250_922_R
Q99250	SCN2A	1318	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1319L	False	False	False	False	False	Q99250_1318_L
Q99250	SCN2A	1634	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1635Q	False	False	False	False	False	Q99250_1634_Q
P20929	NEB	8018	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	P8019L	False	False	False	False	False	P20929_8018_L
P35498	SCN1A	1322	P	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1323H	False	False	False	False	False	P35498_1322_H
P35498	SCN1A	383	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W384R	False	False	False	False	False	P35498_383_R
Q9NY46	SCN3A	1332	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	P1333L	False	False	False	False	False	Q9NY46_1332_L
Q99250	SCN2A	260	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V261M	False	False	False	False	False	Q99250_260_M
P35498	SCN1A	939	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S940F	False	False	False	False	False	P35498_939_F
Q96GW9	MARS2	41	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	D42N	True	False	False	False	True	Q96GW9_41_N
Q9Y276	BCS1L	128	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	G129R	False	False	False	False	False	Q9Y276_128_R
Q9Y276	BCS1L	241	A	G	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	A242G	False	False	False	False	False	Q9Y276_241_G
P42704	LRPPRC	496	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	E497D	False	False	False	False	False	P42704_496_D
P39210	MPV17	63	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	P64R	False	False	False	False	False	P39210_63_R
O75923	DYSF	2008	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017788461538461538	Dysferlin (Dystrophy-associated fer-1-like protein	P2009S	False	False	False	False	False	O75923_2008_S
P42704	LRPPRC	473	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	Q474R	False	False	False	False	False	P42704_473_R
Q2TBA0	KLHL40	92	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	E93Q	False	False	False	False	False	Q2TBA0_92_Q
Q15031	LARS2	867	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	E868K	False	False	False	False	False	Q15031_867_K
Q01484	ANK2	2746	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011119535001263583	Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non	R2747H	False	False	False	False	False	Q01484_2746_H
O43766	LIAS	18	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026881720430107527	Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoa	R19S	True	False	False	False	True	O43766_18_S
P12235	SLC25A4	3	H	Q	0	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	H4Q	True	False	False	False	True	P12235_3_Q
Q9Y234	LIPT1	204	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	T205A	False	False	False	False	False	Q9Y234_204_A
P46976	GYG1	45	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017142857142857144	Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)	S46C	True	True	False	True	True	P46976_45_C
Q4G0N4	NADK2	210	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02262443438914027	NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitocho	R211H	False	False	False	False	False	Q4G0N4_210_H
O60741	HCN1	304	M	L	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	M305L	False	False	False	False	False	O60741_304_L
Q5ST30	VARS2	964	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	A965T	False	False	False	False	False	Q5ST30_964_T
Q4G0N4	NADK2	119	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02262443438914027	NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitocho	K120R	False	False	False	False	False	Q4G0N4_119_R
Q9BRT2	UQCC2	106	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015873015873015872	Ubiquinol-cytochrome c reductase complex assembly 	M107I	False	False	False	False	False	Q9BRT2_106_I
Q5ST30	VARS2	916	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R917Q	False	False	False	False	False	Q5ST30_916_Q
Q96JX3	SERAC1	530	S	N	1	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	S531N	False	False	False	False	False	Q96JX3_530_N
Q96JX3	SERAC1	465	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	M466L	False	False	False	False	False	Q96JX3_465_L
Q96JX3	SERAC1	305	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	R306Q	False	False	False	False	False	Q96JX3_305_Q
Q5ST30	VARS2	504	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	S505F	False	False	False	False	False	Q5ST30_504_F
Q5ST30	VARS2	556	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	A557D	False	False	False	False	False	Q5ST30_556_D
Q5ST30	VARS2	679	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	V680L	False	False	False	False	False	Q5ST30_679_L
Q53GG5	PDLIM3	232	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03021978021978022	PDZ and LIM domain protein 3 (Actinin-associated L	V233L	False	False	False	True	False	Q53GG5_232_L
Q5T160	RARS2	538	L	P	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	L539P	False	False	False	False	False	Q5T160_538_P
O43766	LIAS	252	A	P	1	ClinVar	criteria provided, single submitter	0.026881720430107527	Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoa	A253P	False	False	False	False	False	O43766_252_P
Q14315	FLNC	2058	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V2059M	False	False	False	False	False	Q14315_2058_M
P08243	ASNS	48	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R49Q	True	False	False	False	True	P08243_48_Q
P18507	GABRG2	89	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	T90M	False	False	False	False	False	P18507_89_M
Q05193	DNM1	15	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	L16M	True	False	False	False	True	Q05193_15_M
Q05193	DNM1	806	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	S807C	False	True	False	True	False	Q05193_806_C
Q9Y3A0	COQ4	19	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R20Q	True	False	False	False	True	Q9Y3A0_19_Q
Q13813	SPTAN1	1078	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	L1079V	False	False	False	False	False	Q13813_1078_V
Q13813	SPTAN1	1513	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A1514T	False	False	False	False	False	Q13813_1513_T
Q15526	SURF1	294	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	R295C	False	True	False	True	False	Q15526_294_C
Q16363	LAMA4	28	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	D29N	True	False	False	False	True	Q16363_28_N
Q5JUK3	KCNT1	1210	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	S1211C	False	True	False	True	False	Q5JUK3_1210_C
Q05193	DNM1	110	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	T111S	False	False	False	False	False	Q05193_110_S
Q5ST30	VARS2	25	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	H26Y	True	False	False	False	True	Q5ST30_25_Y
Q5ST30	VARS2	63	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	G64R	False	False	False	False	False	Q5ST30_63_R
Q9Y3A0	COQ4	141	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	A142T	False	False	False	False	False	Q9Y3A0_141_T
Q5ST30	VARS2	448	W	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	W449R	False	False	False	False	False	Q5ST30_448_R
Q5ST30	VARS2	1048	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R1049Q	False	False	False	False	False	Q5ST30_1048_Q
Q13813	SPTAN1	1514	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	G1515S	False	False	False	False	False	Q13813_1514_S
Q9Y3A0	COQ4	160	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	E161D	False	False	False	False	False	Q9Y3A0_160_D
P30084	ECHS1	158	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	Q159R	False	False	False	False	False	P30084_158_R
P30084	ECHS1	74	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	T75I	False	False	False	False	False	P30084_74_I
Q14315	FLNC	835	P	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P836Q	False	False	False	False	False	Q14315_835_Q
Q14315	FLNC	1282	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T1283A	False	False	False	False	False	Q14315_1282_A
Q15526	SURF1	89	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	L90P	False	False	False	False	False	Q15526_89_P
P51530	DNA2	549	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02830188679245283	DNA replication ATP-dependent helicase/nuclease DN	N550S	False	False	False	False	False	P51530_549_S
Q5T481	RBM20	390	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	V391A	False	False	False	False	False	Q5T481_390_A
P11498	PC	422	D	N	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	D423N	False	False	False	False	False	P11498_422_N
Q96I59	NARS2	299	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	K300R	False	False	False	False	False	Q96I59_299_R
Q9Y3A0	COQ4	204	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R205Q	False	False	False	False	False	Q9Y3A0_204_Q
Q13813	SPTAN1	774	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A775V	False	False	False	False	False	Q13813_774_V
Q12860	CNTN1	416	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	M417I	False	False	False	False	False	Q12860_416_I
Q96I59	NARS2	86	N	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	N87T	False	False	False	False	False	Q96I59_86_T
Q96I59	NARS2	8	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	R9P	True	False	False	False	True	Q96I59_8_P
P02462	COL4A1	772	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G773R	False	False	False	False	False	P02462_772_R
Q96D31	ORAI1	217	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009966777408637873	Calcium release-activated calcium channel protein 	S218G	False	False	False	False	False	Q96D31_217_G
O00429	DNM1L	31	G	A	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G32A	True	False	False	False	True	O00429_31_A
O00429	DNM1L	145	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	D146N	False	False	False	False	False	O00429_145_N
Q13224	GRIN2B	937	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R938H	False	False	False	False	False	Q13224_937_H
Q86SX6	GLRX5	145	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	A146T	False	False	False	False	False	Q86SX6_145_T
O75112	LDB3	520	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	Y521C	False	True	False	True	False	O75112_520_C
P54098	POLG	721	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R722H	False	False	False	False	False	P54098_721_H
O14647	CHD2	302	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G303S	False	False	False	False	False	O14647_302_S
O14647	CHD2	404	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	P405L	False	False	False	False	False	O14647_404_L
O14647	CHD2	1624	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N1625S	False	False	False	False	False	O14647_1624_S
P12883	MYH7	740	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G741E	False	False	False	False	False	P12883_740_E
Q6UW78	UQCC3	88	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Ubiquinol-cytochrome-c reductase complex assembly 	G89S	False	False	False	False	False	Q6UW78_88_S
Q5JPH6	EARS2	233	V	L	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	V234L	False	False	False	False	False	Q5JPH6_233_L
O14983	ATP2A1	649	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023976023976023976	Sarcoplasmic/endoplasmic reticulum calcium ATPase 	D650N	False	False	False	False	False	O14983_649_N
Q96L96	ALPK3	399	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	Q400R	False	False	False	False	False	Q96L96_399_R
Q96L96	ALPK3	507	C	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	C508G	False	False	True	True	False	Q96L96_507_G
Q96L96	ALPK3	558	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	T559M	False	False	False	False	False	Q96L96_558_M
P54098	POLG	596	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R597W	False	False	False	False	False	P54098_596_W
C9JR72	KBTBD13	38	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	G39R	True	False	False	True	True	C9JR72_38_R
Q96L96	ALPK3	34	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	A35V	True	False	False	False	True	Q96L96_34_V
Q96L96	ALPK3	133	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	R134H	False	False	False	False	False	Q96L96_133_H
Q96L96	ALPK3	294	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	Y295C	False	True	False	True	False	Q96L96_294_C
Q96L96	ALPK3	810	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	E811K	False	False	False	False	False	Q96L96_810_K
Q96L96	ALPK3	843	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	P844S	False	False	False	False	False	Q96L96_843_S
Q96L96	ALPK3	1354	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	A1355D	False	False	False	False	False	Q96L96_1354_D
Q6DKK2	TTC19	76	Q	E	0	ClinVar	criteria provided, single submitter	0.013157894736842105	Tetratricopeptide repeat protein 19, mitochondrial	Q77E	False	False	False	False	False	Q6DKK2_76_E
Q13224	GRIN2B	270	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A271V	False	False	False	False	False	Q13224_270_V
P22695	UQCRC2	147	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	R148S	False	False	False	False	False	P22695_147_S
P54098	POLG	308	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R309H	False	False	False	False	False	P54098_308_H
Q9ULP9	TBC1D24	475	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	A476D	False	False	False	True	False	Q9ULP9_475_D
Q99959	PKP2	135	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	V136M	False	False	False	False	False	Q99959_135_M
O14983	ATP2A1	279	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023976023976023976	Sarcoplasmic/endoplasmic reticulum calcium ATPase 	N280S	False	False	False	False	False	O14983_279_S
O75208	COQ9	275	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	R276W	False	False	False	False	False	O75208_275_W
P35218	CA5A	240	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	E241K	False	False	False	False	False	P35218_240_K
P35218	CA5A	45	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	N46K	True	False	False	False	True	P35218_45_K
P35218	CA5A	44	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	N45K	True	False	False	False	True	P35218_44_K
Q9NZC7	WWOX	251	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	P252A	False	False	False	False	False	Q9NZC7_251_A
P25705	ATP5F1A	222	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	I223V	False	False	False	False	False	P25705_222_V
Q9BQ52	ELAC2	31	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	P32R	True	False	False	False	True	Q9BQ52_31_R
Q12887	COX10	141	R	Q	0	ClinVar	criteria provided, single submitter	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	R142Q	False	False	False	False	False	Q12887_141_Q
O00555	CACNA1A	2022	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G2023S	False	False	False	False	False	O00555_2022_S
O00555	CACNA1A	1347	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1348Q	False	False	False	False	False	O00555_1347_Q
O00555	CACNA1A	20	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A21V	True	False	False	False	True	O00555_20_V
Q96L96	ALPK3	725	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	Q726R	False	False	False	False	False	Q96L96_725_R
Q96L96	ALPK3	1120	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	Q1121R	False	False	False	False	False	Q96L96_1120_R
Q96L96	ALPK3	1209	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	R1210W	False	False	False	False	False	Q96L96_1209_W
Q96L96	ALPK3	1491	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	A1492T	False	False	False	False	False	Q96L96_1491_T
P54098	POLG	1094	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S1095R	False	False	False	False	False	P54098_1094_R
P54098	POLG	231	R	C	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R232C	False	True	False	True	False	P54098_231_C
P25705	ATP5F1A	31	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	A32S	True	False	False	False	True	P25705_31_S
O14647	CHD2	406	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	P407L	False	False	False	False	False	O14647_406_L
O14647	CHD2	1133	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A1134T	False	False	False	False	False	O14647_1133_T
Q5TEU4	NDUFAF5	149	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	N150S	False	False	False	False	False	Q5TEU4_149_S
O14647	CHD2	1359	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1360R	False	False	False	False	False	O14647_1359_R
O14647	CHD2	1602	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	P1603S	False	False	False	False	False	O14647_1602_S
O14647	CHD2	1683	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	H1684Y	False	False	False	False	False	O14647_1683_Y
O14647	CHD2	1755	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Q1756H	False	False	False	False	False	O14647_1755_H
Q14721	KCNB1	455	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R456Q	False	False	False	False	False	Q14721_455_Q
O00555	CACNA1A	2194	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2195Q	False	False	False	False	False	O00555_2194_Q
P22695	UQCRC2	182	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	R183Q	False	False	False	False	False	P22695_182_Q
P22695	UQCRC2	253	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	R254H	False	False	False	False	False	P22695_253_H
Q9ULP9	TBC1D24	106	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	N107K	False	False	False	True	False	Q9ULP9_106_K
Q9NP73	ALG13	604	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	G605S	False	False	False	False	False	Q9NP73_604_S
Q9NP73	ALG13	1073	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Y1074C	False	True	False	True	False	Q9NP73_1073_C
P0DJ07	PET100	66	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Protein PET100 homolog, mitochondrial	R67C	False	True	False	True	False	P0DJ07_66_C
O76039	CDKL5	576	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	M577T	False	False	False	False	False	O76039_576_T
Q14721	KCNB1	856	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S857N	False	False	False	False	False	Q14721_856_N
Q14721	KCNB1	615	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T616S	False	False	False	False	False	Q14721_615_S
Q14721	KCNB1	525	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V526I	False	False	False	False	False	Q14721_525_I
P36776	LONP1	669	A	S	1	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A670S	False	False	False	False	False	P36776_669_S
Q5TEU4	NDUFAF5	29	T	I	0	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	T30I	True	False	False	False	True	Q5TEU4_29_I
O43526	KCNQ2	210	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M211V	False	False	False	False	False	O43526_210_V
Q05639	EEF1A2	436	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	V437F	False	False	False	False	False	Q05639_436_F
P11532	DMD	487	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R488C	False	True	False	True	False	P11532_487_C
Q14721	KCNB1	824	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P825S	False	False	False	False	False	Q14721_824_S
Q14721	KCNB1	612	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P613S	False	False	False	False	False	Q14721_612_S
O43526	KCNQ2	853	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R854C	False	True	False	True	False	O43526_853_C
P12109	COL6A1	286	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G287R	False	False	False	False	False	P12109_286_R
Q9NNW7	TXNRD2	175	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	E176Q	False	False	False	False	False	Q9NNW7_175_Q
O75027	ABCB7	120	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006648936170212766	Iron-sulfur clusters transporter ABCB7, mitochondr	I121V	False	False	False	False	False	O75027_120_V
Q9NP73	ALG13	212	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S213N	False	False	False	False	False	Q9NP73_212_N
Q9NP73	ALG13	640	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	H641R	False	False	False	False	False	Q9NP73_640_R
Q9NP73	ALG13	1002	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Y1003C	False	True	False	True	False	Q9NP73_1002_C
Q9NP73	ALG13	755	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	T756A	False	False	False	False	False	Q9NP73_755_A
O76039	CDKL5	508	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A509V	False	False	False	False	False	O76039_508_V
P08559	PDHA1	277	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G278R	False	False	False	True	False	P08559_277_R
P08559	PDHA1	341	V	G	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V342G	False	False	False	True	False	P08559_341_G
P11532	DMD	2047	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	S2048N	False	False	False	False	False	P11532_2047_N
O76039	CDKL5	295	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T296A	False	False	False	False	False	O76039_295_A
O76039	CDKL5	702	L	V	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L703V	False	False	False	False	False	O76039_702_V
P08559	PDHA1	332	E	D	0	ClinVar	reviewed by expert panel	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E333D	False	False	False	True	False	P08559_332_D
P11532	DMD	2782	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	N2783S	False	False	False	False	False	P11532_2782_S
O00555	CACNA1A	1152	Q	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Q1153E	False	False	False	False	False	O00555_1152_E
P24311	COX7B	15	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0125	Cytochrome c oxidase subunit 7B, mitochondrial (Cy	S16R	True	False	False	False	True	P24311_15_R
O75251	NDUFS7	48	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	A49G	True	False	False	False	True	O75251_48_G
Q9BQP7	MGME1	14	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020348837209302327	Mitochondrial genome maintenance exonuclease 1 (EC	S15C	True	True	False	True	True	Q9BQP7_14_C
Q14721	KCNB1	665	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P666L	False	False	False	False	False	Q14721_665_L
Q14721	KCNB1	626	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R627Q	False	False	False	False	False	Q14721_626_Q
Q05639	EEF1A2	175	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	A176T	False	False	False	False	False	Q05639_175_T
P11532	DMD	1625	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V1626M	False	False	False	False	False	P11532_1625_M
P49792	RANBP2	1749	P	R	1	ClinVar	no assertion criteria provided	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	P1750R	False	False	False	False	False	P49792_1749_R
Q13224	GRIN2B	532	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G533D	False	False	False	False	False	Q13224_532_D
P30084	ECHS1	276	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	T277I	False	False	False	False	False	P30084_276_I
P57054	PIGP	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Phosphatidylinositol N-acetylglucosaminyltransfera	M1T	True	False	False	False	True	P57054_0_T
O94805	ACTL6B	297	R	Q	1	ClinVar	criteria provided, single submitter	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	R298Q	False	False	False	False	False	O94805_297_Q
P14867	GABRA1	262	M	I	1	ClinVar	no assertion criteria provided	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	M263I	False	False	False	False	False	P14867_262_I
P51801	CLCNKB	625	C	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01601164483260553	Chloride channel protein ClC-Kb (Chloride channel 	C626Y	False	False	True	True	False	P51801_625_Y
Q96Q11	TRNT1	22	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	P23L	True	False	False	False	True	Q96Q11_22_L
O95140	MFN2	149	G	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	G150V	False	False	False	False	False	O95140_149_V
O95140	MFN2	250	P	S	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	P251S	False	False	False	False	False	O95140_250_S
O95140	MFN2	739	W	C	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	W740C	False	True	False	True	False	O95140_739_C
O95140	MFN2	94	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R95G	False	False	False	False	False	O95140_94_G
Q99643	SDHC	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	M1V	True	False	False	False	True	Q99643_0_V
Q99643	SDHC	71	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	R72H	False	False	False	False	False	Q99643_71_H
P21912	SDHB	213	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	Q214R	False	False	False	True	False	P21912_213_R
P21912	SDHB	45	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R46L	True	False	False	True	True	P21912_45_L
P21912	SDHB	64	L	P	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	L65P	False	False	False	True	False	P21912_64_P
P35609	ACTN2	483	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	Q484H	False	False	False	False	False	P35609_483_H
P35609	ACTN2	517	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	H518Y	False	False	False	False	False	P35609_517_Y
Q92736	RYR2	4557	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	H4558Y	False	False	False	False	False	Q92736_4557_Y
Q00839	HNRNPU	486	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G487A	False	False	False	False	False	Q00839_486_A
Q00839	HNRNPU	291	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	T292I	False	False	False	False	False	Q00839_291_I
Q5T011	SZT2	2418	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	R2419Q	False	False	False	False	False	Q5T011_2418_Q
Q5T011	SZT2	2524	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	V2525I	False	False	False	False	False	Q5T011_2524_I
Q5T011	SZT2	1350	W	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	W1351R	False	False	False	False	False	Q5T011_1350_R
Q5T011	SZT2	1691	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	T1692I	False	False	False	False	False	Q5T011_1691_I
Q00839	HNRNPU	422	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K423R	False	False	False	False	False	Q00839_422_R
P35498	SCN1A	1422	L	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1423V	False	False	False	False	False	P35498_1422_V
P35498	SCN1A	1054	N	K	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1055K	False	False	False	False	False	P35498_1054_K
P35498	SCN1A	251	I	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I252T	False	False	False	False	False	P35498_251_T
P35498	SCN1A	1353	C	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1354F	False	False	True	True	False	P35498_1353_F
P35498	SCN1A	1772	S	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1773Y	False	False	False	False	False	P35498_1772_Y
P35498	SCN1A	1663	M	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1664T	False	False	False	False	False	P35498_1663_T
P35498	SCN1A	611	R	Q	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R612Q	False	False	False	False	False	P35498_611_Q
P35498	SCN1A	308	V	D	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V309D	False	False	False	False	False	P35498_308_D
Q99250	SCN2A	1318	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1319W	False	False	False	False	False	Q99250_1318_W
Q99250	SCN2A	1658	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1659V	False	False	False	False	False	Q99250_1658_V
P35498	SCN1A	1921	I	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1922S	False	False	False	False	False	P35498_1921_S
Q9NY47	CACNA2D2	94	R	H	0	ClinVar	criteria provided, single submitter	0.018260869565217393	Voltage-dependent calcium channel subunit alpha-2/	R95H	False	False	False	False	False	Q9NY47_94_H
Q9NY47	CACNA2D2	90	V	I	0	ClinVar	criteria provided, single submitter	0.018260869565217393	Voltage-dependent calcium channel subunit alpha-2/	V91I	False	False	False	False	False	Q9NY47_90_I
P31040	SDHA	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	M1T	True	False	False	False	True	P31040_0_T
O60741	HCN1	650	S	W	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S651W	False	False	False	False	False	O60741_650_W
P31040	SDHA	259	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	G260R	False	False	False	False	False	P31040_259_R
O60741	HCN1	41	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P42S	True	False	False	False	True	O60741_41_S
Q9Y2Z2	MTO1	361	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	I362M	False	False	False	False	False	Q9Y2Z2_361_M
P15924	DSP	907	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R908C	False	True	False	True	False	P15924_907_C
O60741	HCN1	853	R	P	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R854P	False	False	False	False	False	O60741_853_P
O60741	HCN1	52	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	H53Q	False	False	False	False	False	O60741_52_Q
O60741	HCN1	22	A	V	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A23V	True	False	False	False	True	O60741_22_V
P18507	GABRG2	353	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	G354V	False	False	False	False	False	P18507_353_V
P15924	DSP	1299	Q	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Q1300R	False	False	False	False	False	P15924_1299_R
O60741	HCN1	42	P	L	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P43L	True	False	False	False	True	O60741_42_L
Q99996	AKAP9	2991	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010238034297414897	A-kinase anchor protein 9 (AKAP-9) (A-kinase ancho	S2992L	False	False	False	False	False	Q99996_2991_L
Q5JUK3	KCNT1	1091	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	R1092C	False	True	False	True	False	Q5JUK3_1091_C
P61764	STXBP1	128	T	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	T129P	False	False	False	False	False	P61764_128_P
Q13813	SPTAN1	849	M	L	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M850L	False	False	False	False	False	Q13813_849_L
O75112	LDB3	480	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P481R	False	False	False	False	False	O75112_480_R
Q5T481	RBM20	633	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R634W	False	False	False	False	False	Q5T481_633_W
Q86TC9	MYPN	348	T	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	T349K	False	False	False	False	False	Q86TC9_348_K
Q14896	MYBPC3	769	D	H	1	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	D770H	False	False	False	False	False	Q14896_769_H
Q9NX18	SDHAF2	106	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	R107C	False	True	False	True	False	Q9NX18_106_C
Q13224	GRIN2B	1368	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G1369S	False	False	False	False	False	Q13224_1368_S
O60706	ABCC9	458	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	G459S	False	False	False	False	False	O60706_458_S
Q9UQD0	SCN8A	875	G	V	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G876V	False	False	False	False	False	Q9UQD0_875_V
Q13224	GRIN2B	171	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V172I	False	False	False	False	False	Q13224_171_I
Q9UQD0	SCN8A	685	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D686N	False	False	False	False	False	Q9UQD0_685_N
P12883	MYH7	729	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I730T	False	False	False	False	False	P12883_729_T
P12883	MYH7	514	M	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M515R	False	False	False	False	False	P12883_514_R
Q8NCM2	KCNH5	365	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	I366M	False	False	False	False	False	Q8NCM2_365_M
P12883	MYH7	539	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F540L	False	False	False	False	False	P12883_539_L
P12883	MYH7	393	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D394E	False	False	False	False	False	P12883_393_E
O14647	CHD2	1494	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	V1495M	False	False	False	False	False	O14647_1494_M
O14647	CHD2	590	A	T	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A591T	False	False	False	False	False	O14647_590_T
P28472	GABRB3	422	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	H423Q	False	False	False	False	False	P28472_422_Q
P09471	GNAO1	128	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	M129T	False	False	False	False	False	P09471_128_T
Q9NZC7	WWOX	380	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	R381H	False	False	False	False	False	Q9NZC7_380_H
Q9UQ90	SPG7	310	V	E	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	V311E	False	False	False	False	False	Q9UQ90_310_E
O94989	ARHGEF15	788	T	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	T789N	False	False	False	False	False	O94989_788_N
P52179	MYOM1	386	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T387I	False	False	False	False	False	P52179_386_I
O94989	ARHGEF15	72	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	P73S	False	False	False	False	False	O94989_72_S
O94989	ARHGEF15	416	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R417L	False	False	False	False	False	O94989_416_L
Q02487	DSC2	660	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	V661I	False	False	False	False	False	Q02487_660_I
O94989	ARHGEF15	132	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	P133L	False	False	False	False	False	O94989_132_L
P52179	MYOM1	1129	A	S	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	A1130S	False	False	False	False	False	P52179_1129_S
O94989	ARHGEF15	820	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	Q821H	False	False	False	False	False	O94989_820_H
P52179	MYOM1	577	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	R578L	False	False	False	False	False	P52179_577_L
P50570	DNM2	214	D	N	0	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	D215N	False	False	False	False	False	P50570_214_N
Q96L12	CALR3	355	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Calreticulin-3 (Calreticulin-2) (Calsperin)	R356L	False	False	False	False	False	Q96L12_355_L
Q8TAB3	PCDH19	235	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P236R	False	False	False	False	False	Q8TAB3_235_R
Q9NP73	ALG13	1019	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	T1020A	False	False	False	False	False	Q9NP73_1019_A
Q9NP73	ALG13	872	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	A873P	False	False	False	False	False	Q9NP73_872_P
O43526	KCNQ2	291	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L292P	False	False	False	False	False	O43526_291_P
Q9NQ66	PLCB1	212	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012335526315789474	1-phosphatidylinositol 4,5-bisphosphate phosphodie	R213S	False	False	False	False	False	Q9NQ66_212_S
P11532	DMD	1819	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	N1820S	False	False	False	False	False	P11532_1819_S
P11532	DMD	1313	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R1314Q	False	False	False	False	False	P11532_1313_Q
P11532	DMD	2719	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2720H	False	False	False	False	False	P11532_2719_H
P11532	DMD	934	I	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	I935S	False	False	False	False	False	P11532_934_S
P11532	DMD	355	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	L356F	False	False	False	False	False	P11532_355_F
P12883	MYH7	876	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M877I	False	False	False	False	False	P12883_876_I
Q14721	KCNB1	384	P	T	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P385T	False	False	False	False	False	Q14721_384_T
P16389	KCNA2	398	V	M	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	V399M	False	False	False	False	False	P16389_398_M
O95140	MFN2	209	D	Y	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	D210Y	False	False	False	False	False	O95140_209_Y
O95140	MFN2	276	H	R	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H277R	False	False	False	False	False	O95140_276_R
O95140	MFN2	359	Q	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	Q360E	False	False	False	False	False	O95140_359_E
O95140	MFN2	360	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H361R	False	False	False	False	False	O95140_360_R
P21912	SDHB	248	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C249Y	False	False	True	True	False	P21912_248_Y
P21912	SDHB	248	C	R	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C249R	False	False	True	True	False	P21912_248_R
P21912	SDHB	216	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R217G	False	False	False	True	False	P21912_216_G
P68133	ACTA1	184	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R185S	False	False	False	False	False	P68133_184_S
P68133	ACTA1	159	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G160S	False	False	False	False	False	P68133_159_S
Q92736	RYR2	4700	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	I4701V	False	False	False	False	False	Q92736_4700_V
Q99250	SCN2A	101	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R102Q	False	False	False	False	False	Q99250_101_Q
Q99250	SCN2A	239	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A240T	False	False	False	False	False	Q99250_239_T
P35498	SCN1A	1365	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1366L	False	False	False	False	False	P35498_1365_L
P35498	SCN1A	909	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q910R	False	False	False	False	False	P35498_909_R
P35498	SCN1A	116	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L117P	False	False	False	False	False	P35498_116_P
P55084	HADHB	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	M1V	True	False	False	False	True	P55084_0_V
P39210	MPV17	153	R	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	R154M	False	False	False	False	False	P39210_153_M
Q9UI10	EIF2B4	242	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	P243L	False	False	False	False	False	Q9UI10_242_L
Q9H845	ACAD9	413	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R414C	False	True	False	True	False	Q9H845_413_C
Q13144	EIF2B5	648	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	I649T	False	False	False	False	False	Q13144_648_T
Q2TBA0	KLHL40	499	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	R500C	False	True	False	True	False	Q2TBA0_499_C
O76024	WFS1	201	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	E202G	False	False	False	False	False	O76024_201_G
Q00577	PURA	190	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	P191L	False	False	False	False	False	Q00577_190_L
P31040	SDHA	0	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	M1R	True	False	False	False	True	P31040_0_R
O43181	NDUFS4	3	V	L	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] iron-sulfur protei	V4L	True	False	False	False	True	O43181_3_L
P08172	CHRM2	234	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027896995708154508	Muscarinic acetylcholine receptor M2	L235M	False	False	False	False	False	P08172_234_M
Q9H3S4	TPK1	221	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	D222H	False	False	False	False	False	Q9H3S4_221_H
P61764	STXBP1	405	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R406L	False	False	False	False	False	P61764_405_L
O14521	SDHD	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	M1L	True	False	False	True	True	O14521_0_L
O14521	SDHD	91	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	D92V	False	False	False	True	False	O14521_91_V
P49821	NDUFV1	385	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R386C	False	True	False	True	False	P49821_385_C
Q96I59	NARS2	210	F	I	1	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	F211I	False	False	False	False	False	Q96I59_210_I
O00429	DNM1L	430	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	C431Y	False	False	True	True	False	O00429_430_Y
Q9UQD0	SCN8A	239	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I240V	False	False	False	False	False	Q9UQD0_239_V
Q9UQD0	SCN8A	1868	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1869T	False	False	False	False	False	Q9UQD0_1868_T
P28472	GABRB3	252	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	P253L	False	False	False	False	False	P28472_252_L
O14647	CHD2	620	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R621W	False	False	False	False	False	O14647_620_W
O14647	CHD2	930	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K931R	False	False	False	False	False	O14647_930_R
O14647	CHD2	1041	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	D1042E	False	False	False	False	False	O14647_1041_E
Q9ULP9	TBC1D24	499	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	A500V	False	False	False	True	False	Q9ULP9_499_V
P09471	GNAO1	236	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	E237K	False	False	False	False	False	P09471_236_K
P09471	GNAO1	290	Y	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Y291N	False	False	False	False	False	P09471_290_N
Q9BSH4	TACO1	206	L	P	1	ClinVar	criteria provided, single submitter	0.026936026936026935	Translational activator of cytochrome c oxidase 1 	L207P	False	False	False	False	False	Q9BSH4_206_P
Q9Y4W6	AFG3L2	658	A	V	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	A659V	False	False	False	False	False	Q9Y4W6_658_V
Q9Y4W6	AFG3L2	384	G	S	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G385S	False	False	False	False	False	Q9Y4W6_384_S
Q14126	DSG2	40	H	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	H41N	True	False	False	False	True	Q14126_40_N
P50570	DNM2	2	N	S	0	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	N3S	True	False	False	False	True	P50570_2_S
O00555	CACNA1A	1797	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S1798L	False	False	False	False	False	O00555_1797_L
O00555	CACNA1A	1642	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1643N	False	False	False	False	False	O00555_1642_N
O00555	CACNA1A	1506	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1507D	False	False	False	False	False	O00555_1506_D
O00555	CACNA1A	1359	P	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1360Q	False	False	False	False	False	O00555_1359_Q
O00555	CACNA1A	1351	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1352L	False	False	False	False	False	O00555_1351_L
O00555	CACNA1A	1347	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1348W	False	False	False	False	False	O00555_1347_W
O00555	CACNA1A	1233	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1234H	False	False	False	False	False	O00555_1233_H
O00555	CACNA1A	531	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E532K	False	False	False	False	False	O00555_531_K
O43526	KCNQ2	280	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G281E	False	False	False	False	False	O43526_280_E
P12109	COL6A1	271	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G272D	False	False	False	False	False	P12109_271_D
O76039	CDKL5	284	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R285K	False	False	False	False	False	O76039_284_K
O76039	CDKL5	316	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H317R	False	False	False	False	False	O76039_316_R
O76039	CDKL5	354	R	Q	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R355Q	False	False	False	False	False	O76039_354_Q
O76039	CDKL5	411	K	E	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	K412E	False	False	False	False	False	O76039_411_E
O76039	CDKL5	848	S	L	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	S849L	False	False	False	False	False	O76039_848_L
P08559	PDHA1	248	I	S	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	I249S	False	False	False	True	False	P08559_248_S
P08559	PDHA1	301	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R302H	False	False	False	True	False	P08559_301_H
Q9Y223	GNE	523	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	A524V	False	False	False	False	False	Q9Y223_523_V
Q9UQ90	SPG7	125	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	E126Q	False	False	False	False	False	Q9UQ90_125_Q
P13637	ATP1A3	755	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	R756C	False	True	False	True	False	P13637_755_C
O43526	KCNQ2	270	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G271R	False	False	False	False	False	O43526_270_R
Q5ST30	VARS2	140	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	M141I	False	False	False	False	False	Q5ST30_140_I
Q9ULP9	TBC1D24	306	N	H	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	N307H	False	False	False	True	False	Q9ULP9_306_H
Q96RR1	TWNK	373	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R374Q	False	False	False	False	False	Q96RR1_373_Q
Q96RR1	TWNK	457	Q	H	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	Q458H	False	False	False	False	False	Q96RR1_457_H
Q96RR1	TWNK	463	L	P	1	ClinVar	no assertion criteria provided	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	L464P	False	False	False	False	False	Q96RR1_463_P
Q9Y2Z4	YARS2	368	C	Y	1	ClinVar	no assertion criteria provided	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	C369Y	False	False	True	True	False	Q9Y2Z4_368_Y
P54098	POLG	1183	D	N	1	ClinVar	reviewed by expert panel	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	D1184N	False	False	False	False	False	P54098_1183_N
Q6PI48	DARS2	175	L	S	1	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	L176S	False	False	False	False	False	Q6PI48_175_S
Q6PI48	DARS2	587	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	L588V	False	False	False	False	False	Q6PI48_587_V
P68133	ACTA1	57	D	N	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D58N	False	False	False	False	False	P68133_57_N
Q99250	SCN2A	1472	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1473T	False	False	False	False	False	Q99250_1472_T
P35498	SCN1A	1756	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1757E	False	False	False	False	False	P35498_1756_E
O76024	WFS1	557	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	R558H	False	False	False	False	False	O76024_557_H
P49419	ALDH7A1	196	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01855287569573284	Alpha-aminoadipic semialdehyde dehydrogenase (Alph	P197S	False	False	False	False	False	P49419_196_S
P47870	GABRB2	301	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	V302M	False	False	False	False	False	P47870_301_M
Q5JTZ9	AARS2	781	T	I	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	T782I	False	False	False	False	False	Q5JTZ9_781_I
Q6PJG6	BRAT1	139	L	P	1	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	L140P	False	False	False	True	False	Q6PJG6_139_P
Q330K2	NDUFAF6	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	M1T	True	False	False	False	True	Q330K2_0_T
P61764	STXBP1	334	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P335S	False	False	False	False	False	P61764_334_S
Q96RR1	TWNK	478	E	K	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	E479K	False	False	False	False	False	Q96RR1_478_K
P02462	COL4A1	1238	G	R	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G1239R	False	False	False	False	False	P02462_1238_R
P54098	POLG	1190	K	N	1	ClinVar	reviewed by expert panel	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	K1191N	False	False	False	False	False	P54098_1190_N
P54098	POLG	189	P	S	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	P190S	False	False	False	False	False	P54098_189_S
Q5JPH6	EARS2	316	G	S	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	G317S	False	False	False	False	False	Q5JPH6_316_S
O00555	CACNA1A	2020	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E2021K	False	False	False	False	False	O00555_2020_K
O43526	KCNQ2	181	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V182M	False	False	False	False	False	O43526_181_M
O95831	AIFM1	192	F	S	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	F193S	False	False	False	False	False	O95831_192_S
P51608	MECP2	402	P	A	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P403A	False	False	False	False	False	P51608_402_A
Q14315	FLNC	1185	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1186V	False	False	False	False	False	Q14315_1185_V
P18206	VCL	73	M	V	0	ClinVar	criteria provided, single submitter	0.008818342151675485	Vinculin (Metavinculin) (MV)	M74V	False	False	False	False	False	P18206_73_V
Q99643	SDHC	125	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	Y126C	False	True	False	True	False	Q99643_125_C
P21912	SDHB	247	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	N248K	False	False	False	True	False	P21912_247_K
P21912	SDHB	95	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G96D	False	False	False	True	False	P21912_95_D
P21912	SDHB	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	M1I	True	False	False	True	True	P21912_0_I
P21912	SDHB	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	M1L	True	False	False	True	True	P21912_0_L
P50993	ATP1A2	296	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	A297T	False	False	False	False	False	P50993_296_T
P15104	GLUL	0	M	L	1	ClinVar	criteria provided, single submitter	0.029490616621983913	Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate-	M1L	True	False	False	False	True	P15104_0_L
Q5T011	SZT2	2241	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	R2242W	False	False	False	False	False	Q5T011_2241_W
P35498	SCN1A	1866	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1867T	False	False	False	False	False	P35498_1866_T
P35498	SCN1A	1666	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1667P	False	False	False	False	False	P35498_1666_P
P35498	SCN1A	1659	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1660P	False	False	False	False	False	P35498_1659_P
P35498	SCN1A	1377	N	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1378T	False	False	False	False	False	P35498_1377_T
P35498	SCN1A	1347	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1348I	False	False	False	False	False	P35498_1347_I
P35498	SCN1A	362	T	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T363P	False	False	False	False	False	P35498_362_P
P28331	NDUFS1	227	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	V228A	False	False	False	False	False	P28331_227_A
P28331	NDUFS1	220	N	Y	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	N221Y	False	False	False	False	False	P28331_220_Y
P14867	GABRA1	286	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	V287L	False	False	False	False	False	P14867_286_L
O95363	FARS2	418	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	R419H	False	False	False	False	False	O95363_418_H
Q6PJG6	BRAT1	267	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R268H	False	False	False	True	False	Q6PJG6_267_H
P61764	STXBP1	543	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G544V	False	False	False	False	False	P61764_543_V
O00217	NDUFS8	97	E	K	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	E98K	False	False	False	True	False	O00217_97_K
O00217	NDUFS8	145	D	N	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	D146N	False	False	False	True	False	O00217_145_N
Q9UQD0	SCN8A	1786	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	T1787N	False	False	False	False	False	Q9UQD0_1786_N
P12883	MYH7	930	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E931K	False	False	False	False	False	P12883_930_K
P12883	MYH7	600	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L601V	False	False	False	False	False	P12883_600_V
O14647	CHD2	698	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R699W	False	False	False	False	False	O14647_698_W
Q9ULP9	TBC1D24	226	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R227W	False	False	False	True	False	Q9ULP9_226_W
Q14721	KCNB1	199	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V200I	False	False	False	False	False	Q14721_199_I
O43526	KCNQ2	300	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G301V	False	False	False	False	False	O43526_300_V
O43526	KCNQ2	281	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D282H	False	False	False	False	False	O43526_281_H
O43526	KCNQ2	277	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I278T	False	False	False	False	False	O43526_277_T
Q8TAB3	PCDH19	339	N	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N340T	False	False	False	False	False	Q8TAB3_339_T
Q9NP73	ALG13	599	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	M600V	False	False	False	False	False	Q9NP73_599_V
O95831	AIFM1	401	P	T	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P402T	False	False	False	False	False	O95831_401_T
P08559	PDHA1	216	P	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P217L	False	False	False	True	False	P08559_216_L
P08559	PDHA1	348	A	V	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A349V	False	False	False	True	False	P08559_348_V
P08559	PDHA1	366	H	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H367P	False	False	False	True	False	P08559_366_P
P82930	MRPS34	12	E	K	1	ClinVar	criteria provided, single submitter	0.0045871559633027525	Small ribosomal subunit protein mS34 (28S ribosoma	E13K	True	False	False	False	True	P82930_12_K
Q6UX40	TMEM107	44	E	G	1	ClinVar	criteria provided, single submitter	0.02857142857142857	Transmembrane protein 107	E45G	True	False	False	False	True	Q6UX40_44_G
Q14315	FLNC	1182	A	L	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1183L	False	False	False	False	False	Q14315_1182_L
P48728	AMT	116	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	S117L	False	False	False	False	False	P48728_116_L
P08559	PDHA1	153	H	R	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H154R	False	False	False	True	False	P08559_153_R
Q96F07	CYFIP2	86	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	R87C	False	True	False	True	False	Q96F07_86_C
Q8WVT3	TRAPPC12	626	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010884353741496598	Trafficking protein particle complex subunit 12 (T	A627V	False	False	False	False	False	Q8WVT3_626_V
A6NI61	MYMK	90	P	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03619909502262444	Protein myomaker (Myoblast fusion maker) (Transmem	P91T	False	False	False	True	False	A6NI61_90_T
A6NI61	MYMK	184	C	R	1	ClinVar	no assertion criteria provided	0.03619909502262444	Protein myomaker (Myoblast fusion maker) (Transmem	C185R	False	False	True	True	False	A6NI61_184_R
A6NI61	MYMK	99	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03619909502262444	Protein myomaker (Myoblast fusion maker) (Transmem	G100S	False	False	False	True	False	A6NI61_99_S
A6NI61	MYMK	0	M	K	1	ClinVar	no assertion criteria provided	0.03619909502262444	Protein myomaker (Myoblast fusion maker) (Transmem	M1K	True	False	False	True	True	A6NI61_0_K
A6NI61	MYMK	153	I	T	1	ClinVar	no assertion criteria provided	0.03619909502262444	Protein myomaker (Myoblast fusion maker) (Transmem	I154T	False	False	False	True	False	A6NI61_153_T
P18505	GABRB1	52	R	W	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Gamma-aminobutyric acid receptor subunit beta-1 (G	R53W	False	False	False	False	False	P18505_52_W
O43526	KCNQ2	300	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G301D	False	False	False	False	False	O43526_300_D
Q15031	LARS2	123	N	I	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	N124I	False	False	False	False	False	Q15031_123_I
Q15031	LARS2	662	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	R663W	False	False	False	False	False	Q15031_662_W
Q9UQD0	SCN8A	1464	D	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D1465V	False	False	False	False	False	Q9UQD0_1464_V
P13637	ATP1A3	741	D	Y	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	D742Y	False	False	False	False	False	P13637_741_Y
P13637	ATP1A3	153	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	M154V	False	False	False	False	False	P13637_153_V
P49821	NDUFV1	372	F	S	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	F373S	False	False	False	False	False	P49821_372_S
Q9NY46	SCN3A	208	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	L209P	False	False	False	False	False	Q9NY46_208_P
P09471	GNAO1	208	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R209L	False	False	False	False	False	P09471_208_L
P45379	TNNT2	282	K	E	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	K283E	False	False	False	False	False	P45379_282_E
P68133	ACTA1	368	P	L	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P369L	False	False	False	False	False	P68133_368_L
P68133	ACTA1	273	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A274V	False	False	False	False	False	P68133_273_V
Q9NR50	EIF2B3	90	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	R91H	False	False	False	False	False	Q9NR50_90_H
Q9NY46	SCN3A	1620	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	R1621Q	False	False	False	False	False	Q9NY46_1620_Q
Q99250	SCN2A	936	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R937H	False	False	False	False	False	Q99250_936_H
Q99250	SCN2A	1353	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1354T	False	False	False	False	False	Q99250_1353_T
P28331	NDUFS1	407	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	R408H	False	False	False	False	False	P28331_407_H
Q14315	FLNC	895	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G896R	False	False	False	False	False	Q14315_895_R
Q96RR1	TWNK	344	A	S	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A345S	False	False	False	False	False	Q96RR1_344_S
Q96RR1	TWNK	454	M	T	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	M455T	False	False	False	False	False	Q96RR1_454_T
Q9UQD0	SCN8A	1314	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1315L	False	False	False	False	False	Q9UQD0_1314_L
P12883	MYH7	449	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K450N	False	False	False	False	False	P12883_449_N
P54098	POLG	932	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S933R	False	False	False	False	False	P54098_932_R
P54098	POLG	861	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A862T	False	False	False	False	False	P54098_861_T
P54098	POLG	794	N	H	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	N795H	False	False	False	False	False	P54098_794_H
P09471	GNAO1	216	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	E217K	False	False	False	False	False	P09471_216_K
P25705	ATP5F1A	206	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	R207H	False	False	False	False	False	P25705_206_H
Q9NP73	ALG13	582	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	I583V	False	False	False	False	False	Q9NP73_582_V
O95831	AIFM1	156	A	S	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A157S	False	False	False	False	False	O95831_156_S
P51608	MECP2	392	P	S	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P393S	False	False	False	False	False	P51608_392_S
O76039	CDKL5	116	Y	C	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Y117C	False	True	False	True	False	O76039_116_C
P08559	PDHA1	121	G	S	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G122S	False	False	False	True	False	P08559_121_S
P08559	PDHA1	136	E	K	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E137K	False	False	False	True	False	P08559_136_K
P08559	PDHA1	251	L	V	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L252V	False	False	False	True	False	P08559_251_V
P21817	RYR1	1074	R	Q	0	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R1075Q	False	False	False	False	False	P21817_1074_Q
Q14CZ8	HEPACAM	147	P	S	1	ClinVar	no assertion criteria provided	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	P148S	False	False	False	False	False	Q14CZ8_147_S
O95255	ABCC6	750	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018629407850964737	ATP-binding cassette sub-family C member 6 (EC 7.6	M751K	False	False	False	False	False	O95255_750_K
Q9Y234	LIPT1	43	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	N44S	True	False	False	False	True	Q9Y234_43_S
P02545	LMNA	372	I	F	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	I373F	False	False	False	False	False	P02545_372_F
Q8NI60	COQ8A	300	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R301W	False	False	False	False	False	Q8NI60_300_W
P68133	ACTA1	269	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G270D	False	False	False	False	False	P68133_269_D
P20929	NEB	8487	K	R	0	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	K8488R	False	False	False	False	False	P20929_8487_R
Q0VAK6	LMOD3	84	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	L85M	False	False	False	False	False	Q0VAK6_84_M
Q0VAK6	LMOD3	83	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	M84I	False	False	False	False	False	Q0VAK6_83_I
P08243	ASNS	32	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R33C	True	True	False	True	True	P08243_32_C
Q13224	GRIN2B	1411	A	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1412E	False	False	False	False	False	Q13224_1411_E
Q13224	GRIN2B	1367	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G1368S	False	False	False	False	False	Q13224_1367_S
Q9UQD0	SCN8A	867	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I868T	False	False	False	False	False	Q9UQD0_867_T
P54098	POLG	956	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A957P	False	False	False	False	False	P54098_956_P
P54098	POLG	868	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R869Q	False	False	False	False	False	P54098_868_Q
P54098	POLG	626	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R627Q	False	False	False	False	False	P54098_626_Q
O14647	CHD2	176	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A177T	False	False	False	False	False	O14647_176_T
Q9ULP9	TBC1D24	288	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	A289V	False	False	False	True	False	Q9ULP9_288_V
P09471	GNAO1	47	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	T48I	True	False	False	False	True	P09471_47_I
Q9UQ90	SPG7	751	H	D	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	H752D	False	False	False	False	False	Q9UQ90_751_D
O95571	ETHE1	164	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	D165G	False	False	False	True	False	O95571_164_G
O95571	ETHE1	160	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	C161Y	False	False	True	True	False	O95571_160_Y
Q13496	MTM1	501	I	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	I502K	False	False	False	False	False	Q13496_501_K
O76039	CDKL5	521	L	V	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L522V	False	False	False	False	False	O76039_521_V
O76039	CDKL5	561	T	A	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T562A	False	False	False	False	False	O76039_561_A
Q9UKA2	FBXL4	612	V	E	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	V613E	False	False	False	True	False	Q9UKA2_612_E
Q9UKA2	FBXL4	590	D	G	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	D591G	False	False	False	True	False	Q9UKA2_590_G
Q9UKA2	FBXL4	583	C	R	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	C584R	False	False	True	True	False	Q9UKA2_583_R
Q9UKA2	FBXL4	565	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	I566M	False	False	False	True	False	Q9UKA2_565_M
Q9UKA2	FBXL4	513	W	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	W514G	False	False	False	True	False	Q9UKA2_513_G
Q9UKA2	FBXL4	470	A	T	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	A471T	False	False	False	True	False	Q9UKA2_470_T
Q9UKA2	FBXL4	434	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	R435L	False	False	False	True	False	Q9UKA2_434_L
Q9UKA2	FBXL4	410	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	C411Y	False	False	True	True	False	Q9UKA2_410_Y
Q9UKA2	FBXL4	409	S	F	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	S410F	False	False	False	True	False	Q9UKA2_409_F
Q9UKA2	FBXL4	220	D	V	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	D221V	False	False	False	True	False	Q9UKA2_220_V
Q9UKA2	FBXL4	220	D	H	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	D221H	False	False	False	True	False	Q9UKA2_220_H
Q9UKA2	FBXL4	204	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	I205T	False	False	False	True	False	Q9UKA2_204_T
Q15046	KARS1	504	P	S	1	ClinVar	no assertion criteria provided	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	P505S	False	False	False	False	False	Q15046_504_S
Q15046	KARS1	476	R	H	1	ClinVar	criteria provided, single submitter	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	R477H	False	False	False	False	False	Q15046_476_H
O43526	KCNQ2	158	G	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G159V	False	False	False	False	False	O43526_158_V
Q96BR5	COA7	136	Y	C	1	ClinVar	no assertion criteria provided	0.05627705627705628	Cytochrome c oxidase assembly factor 7 (Beta-lacta	Y137C	False	True	False	True	False	Q96BR5_136_C
P21912	SDHB	91	S	P	1	ClinVar	no assertion criteria provided	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	S92P	False	False	False	True	False	P21912_91_P
O14521	SDHD	79	L	R	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L80R	False	False	False	True	False	O14521_79_R
P10589	NR2F1	371	L	P	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	L372P	False	False	False	True	False	P10589_371_P
A6NK58	LIPT2	29	L	P	1	ClinVar	criteria provided, single submitter	0.03896103896103896	Octanoyl-[acyl-carrier-protein]:protein N-octanoyl	L30P	True	False	False	True	True	A6NK58_29_P
A6NK58	LIPT2	104	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03896103896103896	Octanoyl-[acyl-carrier-protein]:protein N-octanoyl	L105R	False	False	False	True	False	A6NK58_104_R
Q9H3S4	TPK1	131	F	S	1	ClinVar	no assertion criteria provided	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	F132S	False	False	False	False	False	Q9H3S4_131_S
P43004	SLC1A2	288	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	P289R	False	False	False	False	False	P43004_288_R
P61981	YWHAG	131	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	R132C	False	True	False	True	False	P61981_131_C
P61981	YWHAG	128	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	D129E	False	False	False	False	False	P61981_128_E
Q9BUK6	MSTO1	344	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028070175438596492	Protein misato homolog 1	R345C	False	True	False	True	False	Q9BUK6_344_C
Q9BUK6	MSTO1	375	F	L	1	ClinVar	no assertion criteria provided	0.028070175438596492	Protein misato homolog 1	F376L	False	False	False	False	False	Q9BUK6_375_L
O95140	MFN2	164	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H165Y	False	False	False	False	False	O95140_164_Y
P19971	TYMP	209	S	R	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	S210R	False	False	False	False	False	P19971_209_R
Q969S9	GFM2	91	Y	S	1	ClinVar	no assertion criteria provided	0.019255455712451863	Ribosome-releasing factor 2, mitochondrial (RRF2mt	Y92S	False	False	False	False	False	Q969S9_91_S
Q3ZCQ8	TIMM50	148	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0113314447592068	Mitochondrial import inner membrane translocase su	T149M	False	False	False	False	False	Q3ZCQ8_148_M
Q96D31	ORAI1	96	S	C	1	ClinVar	criteria provided, single submitter	0.009966777408637873	Calcium release-activated calcium channel protein 	S97C	False	True	False	True	False	Q96D31_96_C
Q9UGM6	WARS2	312	K	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	K313M	False	False	False	False	False	Q9UGM6_312_M
Q9UGM6	WARS2	44	G	V	1	ClinVar	no assertion criteria provided	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	G45V	True	False	False	False	True	Q9UGM6_44_V
Q9UGM6	WARS2	177	V	L	1	ClinVar	criteria provided, single submitter	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	V178L	False	False	False	False	False	Q9UGM6_177_L
Q5JPH6	EARS2	111	A	P	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	A112P	False	False	False	False	False	Q5JPH6_111_P
P51788	CLCN2	171	R	Q	1	ClinVar	criteria provided, single submitter	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R172Q	False	False	False	False	False	P51788_171_Q
P22570	FDXR	305	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	R306C	False	True	False	True	False	P22570_305_C
P22570	FDXR	214	L	V	1	ClinVar	no assertion criteria provided	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	L215V	False	False	False	False	False	P22570_214_V
Q07021	C1QBP	203	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024822695035460994	Complement component 1 Q subcomponent-binding prot	F204L	False	False	False	False	False	Q07021_203_L
Q08209	PPP3CA	91	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	H92R	False	False	False	False	False	Q08209_91_R
Q08209	PPP3CA	446	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	A447T	False	False	False	False	False	Q08209_446_T
Q08209	PPP3CA	280	H	Q	1	ClinVar	criteria provided, single submitter	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	H281Q	False	False	False	False	False	Q08209_280_Q
Q08209	PPP3CA	281	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	E282K	False	False	False	False	False	Q08209_281_K
P57059	SIK1	419	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P420L	False	False	False	False	False	P57059_419_L
Q15413	RYR3	2041	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N2042S	False	False	False	False	False	Q15413_2041_S
P25705	ATP5F1A	8	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	A9T	True	False	False	False	True	P25705_8_T
Q99807	COQ7	45	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	R46W	True	False	False	False	True	Q99807_45_W
P49327	FASN	718	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	E719K	False	False	False	False	False	P49327_718_K
Q6PJG6	BRAT1	622	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	G623S	False	False	False	True	False	Q6PJG6_622_S
Q9NZC2	TREM2	61	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	R62H	False	False	False	False	False	Q9NZC2_61_H
P49792	RANBP2	783	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	R784K	False	False	False	False	False	P49792_783_K
Q9BY32	ITPA	92	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03608247422680412	Inosine triphosphate pyrophosphatase (ITPase) (Ino	E93G	False	False	False	True	False	Q9BY32_92_G
O43426	SYNJ1	14	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	P15S	True	False	False	False	True	O43426_14_S
Q14315	FLNC	2537	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	L2538F	False	False	False	False	False	Q14315_2537_F
O00429	DNM1L	1	E	A	1	ClinVar	no assertion criteria provided	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	E2A	True	False	False	False	True	O00429_1_A
O00429	DNM1L	191	A	E	1	ClinVar	no assertion criteria provided	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	A192E	False	False	False	False	False	O00429_191_E
Q13472	TOP3A	99	M	V	1	ClinVar	criteria provided, single submitter	0.03396603396603397	DNA topoisomerase 3-alpha (EC 5.6.2.1) (DNA topois	M100V	False	False	False	True	False	Q13472_99_V
Q00839	HNRNPU	27	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K28R	True	False	False	False	True	Q00839_27_R
Q9UK17	KCND3	451	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024427480916030534	A-type voltage-gated potassium channel KCND3 (Pota	E452K	False	False	False	False	False	Q9UK17_451_K
P50993	ATP1A2	854	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	G855R	False	False	False	False	False	P50993_854_R
Q96N67	DOCK7	180	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01542056074766355	Dedicator of cytokinesis protein 7	M181V	False	False	False	False	False	Q96N67_180_V
Q6PJG6	BRAT1	736	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R737W	False	False	False	True	False	Q6PJG6_736_W
Q6PJG6	BRAT1	643	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R644Q	False	False	False	True	False	Q6PJG6_643_Q
Q9NVV9	THAP1	140	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04225352112676056	THAP domain-containing protein 1	D141N	False	False	False	True	False	Q9NVV9_140_N
A2IDD5	CCDC78	396	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R397H	False	False	False	False	False	A2IDD5_396_H
Q9UM47	NOTCH3	2269	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	T2270M	False	False	False	True	False	Q9UM47_2269_M
Q9UM47	NOTCH3	1098	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C1099Y	False	False	True	True	False	Q9UM47_1098_Y
Q9UM47	NOTCH3	1075	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R1076C	False	True	False	True	False	Q9UM47_1075_C
Q9UM47	NOTCH3	1020	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	Y1021C	False	True	False	True	False	Q9UM47_1020_C
Q9UM47	NOTCH3	1005	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R1006C	False	True	False	True	False	Q9UM47_1005_C
Q9UM47	NOTCH3	984	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R985C	False	True	False	True	False	Q9UM47_984_C
Q9UM47	NOTCH3	557	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R558C	False	True	False	True	False	Q9UM47_557_C
Q9UM47	NOTCH3	419	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G420C	False	True	False	True	False	Q9UM47_419_C
Q9UM47	NOTCH3	223	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C224Y	False	False	True	True	False	Q9UM47_223_Y
Q9UM47	NOTCH3	206	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R207C	False	True	False	True	False	Q9UM47_206_C
Q9UM47	NOTCH3	173	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C174Y	False	False	True	True	False	Q9UM47_173_Y
Q9UM47	NOTCH3	145	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C146Y	False	False	True	True	False	Q9UM47_145_Y
Q9UM47	NOTCH3	140	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R141C	False	True	False	True	False	Q9UM47_140_C
Q9UM47	NOTCH3	116	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C117Y	False	False	True	True	False	Q9UM47_116_Y
Q9UM47	NOTCH3	116	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C117R	False	False	True	True	False	Q9UM47_116_R
Q9UM47	NOTCH3	109	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R110C	False	True	False	True	False	Q9UM47_109_C
Q9UM47	NOTCH3	89	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R90C	False	True	False	True	False	Q9UM47_89_C
Q9UM47	NOTCH3	64	C	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C65S	False	False	True	True	False	Q9UM47_64_S
Q9UM47	NOTCH3	54	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C55Y	False	False	True	True	False	Q9UM47_54_Y
Q9UM47	NOTCH3	53	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R54C	False	True	False	True	False	Q9UM47_53_C
Q9UM47	NOTCH3	48	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C49Y	True	False	True	True	True	Q9UM47_48_Y
Q9UM47	NOTCH3	48	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C49R	True	False	True	True	True	Q9UM47_48_R
Q9UM47	NOTCH3	42	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C43Y	True	False	True	True	True	Q9UM47_42_Y
P11166	SLC2A1	332	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R333Q	False	False	False	False	False	P11166_332_Q
P04049	RAF1	41	A	T	0	ClinVar	reviewed by expert panel	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	A42T	True	False	False	False	True	P04049_41_T
P16389	KCNA2	372	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	T373I	False	False	False	False	False	P16389_372_I
O95140	MFN2	272	V	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V273G	False	False	False	False	False	O95140_272_G
P06753	TPM3	151	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	A152V	False	False	False	False	False	P06753_151_V
Q15878	CACNA1E	227	L	P	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	L228P	False	False	False	False	False	Q15878_227_P
P11166	SLC2A1	152	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R153P	False	False	False	False	False	P11166_152_P
P20929	NEB	3780	R	W	0	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	R3781W	False	False	False	False	False	P20929_3780_W
Q99250	SCN2A	201	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A202V	False	False	False	False	False	Q99250_201_V
Q99250	SCN2A	466	A	T	0	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A467T	False	False	False	False	False	Q99250_466_T
Q99250	SCN2A	875	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N876S	False	False	False	False	False	Q99250_875_S
P35498	SCN1A	888	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A889T	False	False	False	False	False	P35498_888_T
P35498	SCN1A	137	I	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I138S	False	False	False	False	False	P35498_137_S
P02708	CHRNA1	440	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015317286652078774	Acetylcholine receptor subunit alpha	G441R	False	False	False	False	False	P02708_440_R
P40939	HADHA	614	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	N615D	False	False	False	False	False	P40939_614_D
P55084	HADHB	60	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	R61C	False	True	False	True	False	P55084_60_C
P12235	SLC25A4	32	K	T	1	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	K33T	True	False	False	False	True	P12235_32_T
P10589	NR2F1	104	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	G105S	False	False	False	True	False	P10589_104_S
Q6PJG6	BRAT1	641	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	A642E	False	False	False	True	False	Q6PJG6_641_E
Q96CU9	FOXRED1	291	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	G292R	False	False	False	False	False	Q96CU9_291_R
Q9UQD0	SCN8A	1529	M	I	0	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1530I	False	False	False	False	False	Q9UQD0_1529_I
P12883	MYH7	350	K	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K351T	False	False	False	False	False	P12883_350_T
Q5JPH6	EARS2	106	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	R107H	False	False	False	False	False	Q5JPH6_106_H
Q5JPH6	EARS2	97	A	V	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	A98V	False	False	False	False	False	Q5JPH6_97_V
Q9BTW9	TBCD	553	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	A554V	False	False	False	False	False	Q9BTW9_553_V
P50570	DNM2	617	A	T	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	A618T	False	False	False	False	False	P50570_617_T
O00555	CACNA1A	1632	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1633N	False	False	False	False	False	O00555_1632_N
O00555	CACNA1A	1357	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1358W	False	False	False	False	False	O00555_1357_W
O00555	CACNA1A	710	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I711M	False	False	False	False	False	O00555_710_M
Q14721	KCNB1	396	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	C397Y	False	False	True	True	False	Q14721_396_Y
Q14721	KCNB1	305	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R306C	False	True	False	True	False	Q14721_305_C
O43526	KCNQ2	143	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R144W	False	False	False	False	False	O43526_143_W
Q05639	EEF1A2	265	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	R266W	False	False	False	False	False	Q05639_265_W
Q9NNW7	TXNRD2	468	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	N469K	False	False	False	False	False	Q9NNW7_468_K
Q9NNW7	TXNRD2	338	Q	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	Q339L	False	False	False	False	False	Q9NNW7_338_L
Q8TAB3	PCDH19	566	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P567L	False	False	False	False	False	Q8TAB3_566_L
Q8TAB3	PCDH19	489	Y	S	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	Y490S	False	False	False	False	False	Q8TAB3_489_S
Q8TAB3	PCDH19	197	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	R198L	False	False	False	False	False	Q8TAB3_197_L
O95831	AIFM1	236	D	V	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	D237V	False	False	False	False	False	O95831_236_V
P30049	ATP5F1D	81	P	L	1	ClinVar	no assertion criteria provided	0.0	ATP synthase F(1) complex subunit delta, mitochond	P82L	False	False	False	False	False	P30049_81_L
O95140	MFN2	94	R	S	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R95S	False	False	False	False	False	O95140_94_S
O95140	MFN2	108	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	K109R	False	False	False	False	False	O95140_108_R
O95140	MFN2	740	L	W	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L741W	False	False	False	False	False	O95140_740_W
O95140	MFN2	105	S	R	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S106R	False	False	False	False	False	O95140_105_R
Q8IWE5	PLEKHM2	741	V	M	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	V742M	False	False	False	False	False	Q8IWE5_741_M
Q8IWE5	PLEKHM2	361	R	G	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	R362G	False	False	False	False	False	Q8IWE5_361_G
Q8IWE5	PLEKHM2	428	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029440628066732092	Pleckstrin homology domain-containing family M mem	R429H	False	False	False	False	False	Q8IWE5_428_H
P06753	TPM3	252	T	K	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	T253K	False	False	False	False	False	P06753_252_K
Q8IWE5	PLEKHM2	421	D	G	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	D422G	False	False	False	False	False	Q8IWE5_421_G
Q8IWE5	PLEKHM2	296	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029440628066732092	Pleckstrin homology domain-containing family M mem	E297D	False	False	False	False	False	Q8IWE5_296_D
Q8IWE5	PLEKHM2	353	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029440628066732092	Pleckstrin homology domain-containing family M mem	R354C	False	True	False	True	False	Q8IWE5_353_C
Q8IWE5	PLEKHM2	742	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029440628066732092	Pleckstrin homology domain-containing family M mem	R743H	False	False	False	False	False	Q8IWE5_742_H
Q8IWE5	PLEKHM2	915	A	V	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	A916V	False	False	False	False	False	Q8IWE5_915_V
P21912	SDHB	97	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C98Y	False	False	True	True	False	P21912_97_Y
P68133	ACTA1	184	R	C	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R185C	False	True	False	True	False	P68133_184_C
P68133	ACTA1	26	D	G	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D27G	True	False	False	False	True	P68133_26_G
P45379	TNNT2	188	S	A	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	S189A	False	False	False	False	False	P45379_188_A
Q13698	CACNA1S	1141	Q	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	Q1142P	False	False	False	False	False	Q13698_1141_P
P68133	ACTA1	141	L	P	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	L142P	False	False	False	False	False	P68133_141_P
Q5T440	IBA57	315	N	T	0	ClinVar	criteria provided, single submitter	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	N316T	False	False	False	False	False	Q5T440_315_T
P68133	ACTA1	133	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M134I	False	False	False	False	False	P68133_133_I
P68133	ACTA1	65	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I66N	False	False	False	False	False	P68133_65_N
P68133	ACTA1	36	V	L	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V37L	True	False	False	False	True	P68133_36_L
Q92736	RYR2	414	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	T415A	False	False	False	False	False	Q92736_414_A
P68133	ACTA1	351	S	P	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	S352P	False	False	False	False	False	P68133_351_P
P68133	ACTA1	270	M	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M271R	False	False	False	False	False	P68133_270_R
P68133	ACTA1	199	Y	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Y200N	False	False	False	False	False	P68133_199_N
Q96N67	DOCK7	41	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01542056074766355	Dedicator of cytokinesis protein 7	N42S	True	False	False	False	True	Q96N67_41_S
Q96N67	DOCK7	942	S	F	0	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	S943F	False	False	False	False	False	Q96N67_942_F
Q96N67	DOCK7	1565	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01542056074766355	Dedicator of cytokinesis protein 7	G1566S	False	False	False	False	False	Q96N67_1565_S
P49792	RANBP2	579	E	K	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	E580K	False	False	False	False	False	P49792_579_K
P49792	RANBP2	747	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	S748L	False	False	False	False	False	P49792_747_L
P49792	RANBP2	2691	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	G2692D	False	False	False	False	False	P49792_2691_D
P49792	RANBP2	74	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	N75K	False	False	False	False	False	P49792_74_K
P49792	RANBP2	362	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	R363C	False	True	False	True	False	P49792_362_C
P49792	RANBP2	1153	H	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	H1154L	False	False	False	False	False	P49792_1153_L
P49792	RANBP2	1575	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	T1576S	False	False	False	False	False	P49792_1575_S
P49792	RANBP2	1586	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	G1587V	False	False	False	False	False	P49792_1586_V
P49792	RANBP2	1853	N	S	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	N1854S	False	False	False	False	False	P49792_1853_S
P49792	RANBP2	2491	T	P	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	T2492P	False	False	False	False	False	P49792_2491_P
P49792	RANBP2	242	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	M243T	False	False	False	False	False	P49792_242_T
O00499	BIN1	461	S	L	0	ClinVar	criteria provided, single submitter	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	S462L	False	False	False	False	False	O00499_461_L
P20929	NEB	4105	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D4106N	False	False	False	False	False	P20929_4105_N
P49792	RANBP2	1499	A	P	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	A1500P	False	False	False	False	False	P49792_1499_P
P49792	RANBP2	1608	Q	L	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	Q1609L	False	False	False	False	False	P49792_1608_L
P49792	RANBP2	2390	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	T2391S	False	False	False	False	False	P49792_2390_S
P20929	NEB	7305	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A7306T	False	False	False	False	False	P20929_7305_T
Q99250	SCN2A	523	R	Q	0	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R524Q	False	False	False	False	False	Q99250_523_Q
P20929	NEB	7851	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S7852L	False	False	False	False	False	P20929_7851_L
Q99250	SCN2A	1588	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Y1589C	False	True	False	True	False	Q99250_1588_C
P20929	NEB	6909	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A6910T	False	False	False	False	False	P20929_6909_T
P35498	SCN1A	1722	S	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1723P	False	False	False	False	False	P35498_1722_P
P35498	SCN1A	1342	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1343S	False	False	False	False	False	P35498_1342_S
P20929	NEB	8006	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S8007L	False	False	False	False	False	P20929_8006_L
P35498	SCN1A	977	I	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I978T	False	False	False	False	False	P35498_977_T
P20929	NEB	7088	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	S7089C	False	True	False	True	False	P20929_7088_C
P20929	NEB	5857	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T5858M	False	False	False	False	False	P20929_5857_M
P20929	NEB	2957	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2958V	False	False	False	False	False	P20929_2957_V
P20929	NEB	1146	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V1147M	False	False	False	False	False	P20929_1146_M
P20929	NEB	3044	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L3045F	False	False	False	False	False	P20929_3044_F
O60662	KLHL41	65	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	I66T	False	False	False	False	False	O60662_65_T
P35498	SCN1A	1679	V	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1680D	False	False	False	False	False	P35498_1679_D
P35498	SCN1A	1369	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1370V	False	False	False	False	False	P35498_1369_V
P20929	NEB	1082	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1083V	False	False	False	False	False	P20929_1082_V
P20929	NEB	867	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	L868P	False	False	False	False	False	P20929_867_P
P35498	SCN1A	889	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L890P	False	False	False	False	False	P35498_889_P
P20929	NEB	687	P	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P688S	False	False	False	False	False	P20929_687_S
Q99250	SCN2A	1345	I	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1346N	False	False	False	False	False	Q99250_1345_N
P35498	SCN1A	1587	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1588Y	False	False	True	True	False	P35498_1587_Y
Q99250	SCN2A	228	S	A	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S229A	False	False	False	False	False	Q99250_228_A
P35498	SCN1A	1724	G	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1725D	False	False	False	False	False	P35498_1724_D
P35498	SCN1A	982	V	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V983I	False	False	False	False	False	P35498_982_I
P35498	SCN1A	955	M	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M956I	False	False	False	False	False	P35498_955_I
P35498	SCN1A	840	T	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T841R	False	False	False	False	False	P35498_840_R
P35498	SCN1A	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1T	True	False	False	False	True	P35498_0_T
P35498	SCN1A	335	C	W	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C336W	False	False	True	True	False	P35498_335_W
P35498	SCN1A	193	D	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D194Y	False	False	False	False	False	P35498_193_Y
O60662	KLHL41	132	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	G133D	False	False	False	False	False	O60662_132_D
O60662	KLHL41	217	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	V218M	False	False	False	False	False	O60662_217_M
Q8WZ42	TTN	241	D	N	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	D242N	False	False	False	False	False	Q8WZ42_241_N
Q8WZ42	TTN	4	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A5T	True	False	False	False	True	Q8WZ42_4_T
P12111	COL6A3	1923	V	I	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V1924I	False	False	False	False	False	P12111_1923_I
P12111	COL6A3	1511	S	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S1512T	False	False	False	False	False	P12111_1511_T
P12111	COL6A3	2491	S	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S2492L	False	False	False	False	False	P12111_2491_L
P12111	COL6A3	2443	R	P	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R2444P	False	False	False	False	False	P12111_2443_P
P12111	COL6A3	2076	G	V	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G2077V	False	False	False	False	False	P12111_2076_V
P12111	COL6A3	3013	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P3014L	False	False	False	False	False	P12111_3013_L
P12111	COL6A3	2284	G	R	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G2285R	False	False	False	False	False	P12111_2284_R
P12111	COL6A3	2076	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2077D	False	False	False	False	False	P12111_2076_D
P12111	COL6A3	594	I	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I595M	False	False	False	False	False	P12111_594_M
P31483	TIA1	315	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015544041450777202	Cytotoxic granule associated RNA binding protein T	A316G	False	False	False	False	False	P31483_315_G
Q99574	SERPINI1	329	E	D	0	ClinVar	criteria provided, single submitter	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	E330D	False	False	False	False	False	Q99574_329_D
Q99574	SERPINI1	272	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	A273T	False	False	False	False	False	Q99574_272_T
Q99574	SERPINI1	69	K	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	K70E	False	False	False	False	False	Q99574_69_E
Q99574	SERPINI1	72	R	C	0	ClinVar	criteria provided, single submitter	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	R73C	False	True	False	True	False	Q99574_72_C
Q99574	SERPINI1	113	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serp	V114M	False	False	False	False	False	Q99574_113_M
P48728	AMT	228	D	H	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	D229H	False	False	False	False	False	P48728_228_H
Q0VAK6	LMOD3	551	P	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	P552H	False	False	False	False	False	Q0VAK6_551_H
Q0VAK6	LMOD3	497	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	R498Q	False	False	False	False	False	Q0VAK6_497_Q
Q0VAK6	LMOD3	437	K	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	K438M	False	False	False	False	False	Q0VAK6_437_M
Q0VAK6	LMOD3	418	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	M419I	False	False	False	False	False	Q0VAK6_418_I
P48728	AMT	210	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	E211K	False	False	False	False	False	P48728_210_K
Q9BYW2	SETD2	2151	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020670826833073322	Histone-lysine N-methyltransferase SETD2 (EC 2.1.1	Y2152C	False	True	False	True	False	Q9BYW2_2151_C
Q0VAK6	LMOD3	141	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	E142D	False	False	False	False	False	Q0VAK6_141_D
Q0VAK6	LMOD3	381	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	P382S	False	False	False	False	False	Q0VAK6_381_S
Q0VAK6	LMOD3	559	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	A560V	False	False	False	False	False	Q0VAK6_559_V
Q0VAK6	LMOD3	408	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	Q409R	False	False	False	False	False	Q0VAK6_408_R
Q0VAK6	LMOD3	292	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	G293D	False	False	False	False	False	Q0VAK6_292_D
Q0VAK6	LMOD3	82	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	R83H	False	False	False	False	False	Q0VAK6_82_H
Q0VAK6	LMOD3	66	N	S	0	ClinVar	criteria provided, single submitter	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	N67S	False	False	False	False	False	Q0VAK6_66_S
Q9UBF9	MYOT	16	C	R	0	ClinVar	criteria provided, single submitter	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	C17R	True	False	True	True	True	Q9UBF9_16_R
P47870	GABRB2	292	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	R293W	False	False	False	False	False	P47870_292_W
O60741	HCN1	742	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P743A	False	False	False	False	False	O60741_742_A
O60741	HCN1	547	R	H	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R548H	False	False	False	False	False	O60741_547_H
Q00577	PURA	306	A	V	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	A307V	False	False	False	False	False	Q00577_306_V
O60741	HCN1	86	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P87S	False	False	False	False	False	O60741_86_S
P31040	SDHA	94	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	P95R	False	False	False	False	False	P31040_94_R
Q99715	COL12A1	2213	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	Q2214R	False	False	False	False	False	Q99715_2213_R
P15924	DSP	936	I	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I937V	False	False	False	False	False	P15924_936_V
O95363	FARS2	135	P	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	P136H	False	False	False	False	False	O95363_135_H
O60741	HCN1	233	Y	F	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	Y234F	False	False	False	False	False	O60741_233_F
Q99715	COL12A1	988	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	G989R	False	False	False	False	False	Q99715_988_R
Q99715	COL12A1	208	K	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	K209T	False	False	False	False	False	Q99715_208_T
Q14315	FLNC	525	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R526W	False	False	False	False	False	Q14315_525_W
Q14315	FLNC	797	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	D798N	False	False	False	False	False	Q14315_797_N
Q14315	FLNC	1049	S	G	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	S1050G	False	False	False	False	False	Q14315_1049_G
Q99715	COL12A1	2663	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	I2664V	False	False	False	False	False	Q99715_2663_V
Q99715	COL12A1	2196	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	T2197I	False	False	False	False	False	Q99715_2196_I
Q99715	COL12A1	2020	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	R2021Q	False	False	False	False	False	Q99715_2020_Q
Q99715	COL12A1	1668	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	E1669Q	False	False	False	False	False	Q99715_1668_Q
Q14315	FLNC	2319	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G2320R	False	False	False	False	False	Q14315_2319_R
Q53H12	AGK	138	T	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018957345971563982	Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.	T139R	False	False	False	False	False	Q53H12_138_R
Q14315	FLNC	2229	R	L	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R2230L	False	False	False	False	False	Q14315_2229_L
Q6PJG6	BRAT1	188	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	G189V	False	False	False	True	False	Q6PJG6_188_V
Q99715	COL12A1	2282	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	G2283E	False	False	False	False	False	Q99715_2282_E
P15924	DSP	1784	E	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E1785K	False	False	False	False	False	P15924_1784_K
Q14315	FLNC	726	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R727H	False	False	False	False	False	Q14315_726_H
Q14315	FLNC	2329	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G2330S	False	False	False	False	False	Q14315_2329_S
P08172	CHRM2	330	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027896995708154508	Muscarinic acetylcholine receptor M2	T331S	False	False	False	False	False	P08172_330_S
Q6PJG6	BRAT1	575	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	G576S	False	False	False	True	False	Q6PJG6_575_S
Q6PJG6	BRAT1	545	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	V546L	False	False	False	True	False	Q6PJG6_545_L
Q6PJG6	BRAT1	284	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R285Q	False	False	False	True	False	Q6PJG6_284_Q
Q14315	FLNC	436	R	L	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R437L	False	False	False	False	False	Q14315_436_L
Q14315	FLNC	476	C	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	C477S	False	False	True	True	False	Q14315_476_S
Q14315	FLNC	552	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G553S	False	False	False	False	False	Q14315_552_S
Q6PJG6	BRAT1	198	M	L	0	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	M199L	False	False	False	True	False	Q6PJG6_198_L
Q6PJG6	BRAT1	143	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	G144D	False	False	False	True	False	Q6PJG6_143_D
Q6PJG6	BRAT1	55	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	V56M	False	False	False	True	False	Q6PJG6_55_M
Q6PJG6	BRAT1	640	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	A641V	False	False	False	True	False	Q6PJG6_640_V
Q6PJG6	BRAT1	170	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	V171L	False	False	False	True	False	Q6PJG6_170_L
Q6PJG6	BRAT1	120	S	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	S121R	False	False	False	True	False	Q6PJG6_120_R
Q9P0K9	FRRS1L	0	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027303754266211604	DOMON domain-containing protein FRRS1L (Brain prot	M1L	True	False	False	False	True	Q9P0K9_0_L
P61764	STXBP1	8	V	I	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V9I	True	False	False	False	True	P61764_8_I
Q13813	SPTAN1	29	K	R	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	K30R	True	False	False	False	True	Q13813_29_R
Q05193	DNM1	590	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	T591M	False	False	False	False	False	Q05193_590_M
Q13813	SPTAN1	733	I	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	I734T	False	False	False	False	False	Q13813_733_T
Q05193	DNM1	265	R	H	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R266H	False	False	False	False	False	Q05193_265_H
Q9Y3A0	COQ4	123	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	G124S	False	False	False	False	False	Q9Y3A0_123_S
Q9P0K9	FRRS1L	44	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027303754266211604	DOMON domain-containing protein FRRS1L (Brain prot	R45S	True	False	False	False	True	Q9P0K9_44_S
Q5JUK3	KCNT1	648	S	L	0	ClinVar	criteria provided, single submitter	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	S649L	False	False	False	False	False	Q5JUK3_648_L
Q5JUK3	KCNT1	1091	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	R1092H	False	False	False	False	False	Q5JUK3_1091_H
Q05193	DNM1	249	A	T	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	A250T	False	False	False	False	False	Q05193_249_T
Q05193	DNM1	786	A	V	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	A787V	False	False	False	False	False	Q05193_786_V
Q13813	SPTAN1	1178	M	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M1179T	False	False	False	False	False	Q13813_1178_T
Q9Y223	GNE	26	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	P27S	True	False	False	False	True	Q9Y223_26_S
Q5T481	RBM20	56	G	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G57S	False	False	False	False	False	Q5T481_56_S
Q5JUK3	KCNT1	283	T	M	0	ClinVar	criteria provided, single submitter	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	T284M	False	False	False	False	False	Q5JUK3_283_M
Q5T481	RBM20	1007	R	Q	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R1008Q	False	False	False	False	False	Q5T481_1007_Q
Q15652	JMJD1C	1393	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	T1394S	False	False	False	False	False	Q15652_1393_S
Q15652	JMJD1C	649	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	T650I	False	False	False	False	False	Q15652_649_I
Q15652	JMJD1C	590	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	M591V	False	False	False	False	False	Q15652_590_V
Q15652	JMJD1C	2530	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	E2531K	False	False	False	False	False	Q15652_2530_K
Q15652	JMJD1C	2037	E	Q	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	E2038Q	False	False	False	False	False	Q15652_2037_Q
P23378	GLDC	629	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R630P	False	False	False	False	False	P23378_629_P
Q15652	JMJD1C	459	M	T	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	M460T	False	False	False	False	False	Q15652_459_T
P23378	GLDC	443	C	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C444Y	False	False	True	True	False	P23378_443_Y
Q15652	JMJD1C	373	D	H	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	D374H	False	False	False	False	False	Q15652_373_H
Q15652	JMJD1C	319	S	N	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	S320N	False	False	False	False	False	Q15652_319_N
Q15652	JMJD1C	271	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	A272T	False	False	False	False	False	Q15652_271_T
Q15652	JMJD1C	18	V	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	V19D	True	False	False	False	True	Q15652_18_D
O75112	LDB3	186	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P187L	False	False	False	False	False	O75112_186_L
Q15652	JMJD1C	1461	K	N	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	K1462N	False	False	False	False	False	Q15652_1461_N
Q15652	JMJD1C	1428	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	S1429L	False	False	False	False	False	Q15652_1428_L
Q15652	JMJD1C	567	D	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	D568V	False	False	False	False	False	Q15652_567_V
Q15652	JMJD1C	370	N	S	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	N371S	False	False	False	False	False	Q15652_370_S
Q5T481	RBM20	743	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	N744S	False	False	False	False	False	Q5T481_743_S
Q15652	JMJD1C	2399	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	D2400E	False	False	False	False	False	Q15652_2399_E
Q15652	JMJD1C	1997	N	T	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	N1998T	False	False	False	False	False	Q15652_1997_T
Q15652	JMJD1C	1979	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	P1980L	False	False	False	False	False	Q15652_1979_L
Q15652	JMJD1C	1059	K	E	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	K1060E	False	False	False	False	False	Q15652_1059_E
Q15652	JMJD1C	560	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	S561C	False	True	False	True	False	Q15652_560_C
Q15652	JMJD1C	515	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	T516S	False	False	False	False	False	Q15652_515_S
Q15652	JMJD1C	514	D	G	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	D515G	False	False	False	False	False	Q15652_514_G
Q15652	JMJD1C	367	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	R368Q	False	False	False	False	False	Q15652_367_Q
Q9NX18	SDHAF2	10	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	S11L	True	False	False	False	True	Q9NX18_10_L
Q14896	MYBPC3	363	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	A364T	False	False	False	False	False	Q14896_363_T
Q96AD5	PNPLA2	287	S	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	S288W	False	False	False	False	False	Q96AD5_287_W
Q13224	GRIN2B	991	H	R	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	H992R	False	False	False	False	False	Q13224_991_R
Q9UQD0	SCN8A	366	M	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M367I	False	False	False	False	False	Q9UQD0_366_I
Q9UQD0	SCN8A	638	R	C	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R639C	False	True	False	True	False	Q9UQD0_638_C
Q13224	GRIN2B	1091	R	Q	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1092Q	False	False	False	False	False	Q13224_1091_Q
O60706	ABCC9	1265	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	V1266M	False	False	False	False	False	O60706_1265_M
Q96AD5	PNPLA2	412	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	A413T	False	False	False	False	False	Q96AD5_412_T
Q5BKY1	LRRC10	194	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02888086642599278	Leucine-rich repeat-containing protein 10	I195T	False	False	False	False	False	Q5BKY1_194_T
P23409	MYF6	115	L	P	0	ClinVar	criteria provided, single submitter	0.03305785123966942	Myogenic factor 6 (Myf-6) (Class C basic helix-loo	L116P	False	False	False	True	False	P23409_115_P
P23409	MYF6	181	T	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03305785123966942	Myogenic factor 6 (Myf-6) (Class C basic helix-loo	T182P	False	False	False	True	False	P23409_181_P
Q5BKY1	LRRC10	229	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02888086642599278	Leucine-rich repeat-containing protein 10	V230M	False	False	False	False	False	Q5BKY1_229_M
Q5BKY1	LRRC10	68	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02888086642599278	Leucine-rich repeat-containing protein 10	P69L	False	False	False	False	False	Q5BKY1_68_L
P23409	MYF6	89	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03305785123966942	Myogenic factor 6 (Myf-6) (Class C basic helix-loo	A90D	False	False	False	True	False	P23409_89_D
Q9UQD0	SCN8A	1514	V	I	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1515I	False	False	False	False	False	Q9UQD0_1514_I
Q12860	CNTN1	976	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	R977C	False	True	False	True	False	Q12860_976_C
Q9UQD0	SCN8A	1176	E	K	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	E1177K	False	False	False	False	False	Q9UQD0_1176_K
P12883	MYH7	1378	A	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1379S	False	False	False	False	False	P12883_1378_S
Q5BKY1	LRRC10	232	G	C	0	ClinVar	criteria provided, single submitter	0.02888086642599278	Leucine-rich repeat-containing protein 10	G233C	False	True	False	True	False	Q5BKY1_232_C
P05165	PCCA	260	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	E261G	False	False	False	False	False	P05165_260_G
P12883	MYH7	777	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D778V	False	False	False	False	False	P12883_777_V
Q15413	RYR3	357	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	I358T	False	False	False	False	False	Q15413_357_T
Q15413	RYR3	425	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N426S	False	False	False	False	False	Q15413_425_S
Q15413	RYR3	431	I	S	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	I432S	False	False	False	False	False	Q15413_431_S
Q15413	RYR3	457	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R458Q	False	False	False	False	False	Q15413_457_Q
P12883	MYH7	903	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R904P	False	False	False	False	False	P12883_903_P
Q15413	RYR3	897	N	S	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N898S	False	False	False	False	False	Q15413_897_S
Q15413	RYR3	1388	M	V	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	M1389V	False	False	False	False	False	Q15413_1388_V
Q15413	RYR3	1677	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	D1678G	False	False	False	False	False	Q15413_1677_G
Q15413	RYR3	2880	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	S2881T	False	False	False	False	False	Q15413_2880_T
Q15413	RYR3	2971	K	E	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	K2972E	False	False	False	False	False	Q15413_2971_E
Q15413	RYR3	2999	I	V	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	I3000V	False	False	False	False	False	Q15413_2999_V
P12883	MYH7	851	M	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M852R	False	False	False	False	False	P12883_851_R
Q8NCM2	KCNH5	877	A	T	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	A878T	False	False	False	False	False	Q8NCM2_877_T
Q8NCM2	KCNH5	255	V	I	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	V256I	False	False	False	False	False	Q8NCM2_255_I
Q15413	RYR3	609	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	V610I	False	False	False	False	False	Q15413_609_I
P54098	POLG	9	A	V	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A10V	True	False	False	False	True	P54098_9_V
Q15413	RYR3	2603	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N2604K	False	False	False	False	False	Q15413_2603_K
Q15413	RYR3	3228	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	T3229M	False	False	False	False	False	Q15413_3228_M
Q15413	RYR3	4375	R	Q	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R4376Q	False	False	False	False	False	Q15413_4375_Q
O14647	CHD2	1055	E	D	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	E1056D	False	False	False	False	False	O14647_1055_D
Q15413	RYR3	828	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R829H	False	False	False	False	False	Q15413_828_H
Q15413	RYR3	1766	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E1767K	False	False	False	False	False	Q15413_1766_K
Q15413	RYR3	1841	K	Q	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	K1842Q	False	False	False	False	False	Q15413_1841_Q
Q15413	RYR3	2205	N	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N2206T	False	False	False	False	False	Q15413_2205_T
Q15413	RYR3	2705	S	I	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	S2706I	False	False	False	False	False	Q15413_2705_I
Q15413	RYR3	2847	E	K	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E2848K	False	False	False	False	False	Q15413_2847_K
Q15413	RYR3	2851	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R2852H	False	False	False	False	False	Q15413_2851_H
Q15413	RYR3	3047	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R3048L	False	False	False	False	False	Q15413_3047_L
Q15413	RYR3	3316	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	I3317T	False	False	False	False	False	Q15413_3316_T
Q15413	RYR3	3848	N	H	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N3849H	False	False	False	False	False	Q15413_3848_H
Q15413	RYR3	3640	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	M3641V	False	False	False	False	False	Q15413_3640_V
Q15413	RYR3	3958	I	T	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	I3959T	False	False	False	False	False	Q15413_3958_T
Q15413	RYR3	4383	P	L	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	P4384L	False	False	False	False	False	Q15413_4383_L
Q15413	RYR3	4703	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E4704K	False	False	False	False	False	Q15413_4703_K
C9JR72	KBTBD13	82	E	Q	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	E83Q	False	False	False	True	False	C9JR72_82_Q
C9JR72	KBTBD13	319	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	V320L	False	False	False	True	False	C9JR72_319_L
P54098	POLG	425	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G426S	False	False	False	False	False	P54098_425_S
O14647	CHD2	999	R	W	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1000W	False	False	False	False	False	O14647_999_W
O14647	CHD2	1715	Y	D	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Y1716D	False	False	False	False	False	O14647_1715_D
O14647	CHD2	408	N	H	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N409H	False	False	False	False	False	O14647_408_H
O14647	CHD2	1454	P	A	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	P1455A	False	False	False	False	False	O14647_1454_A
O14647	CHD2	1501	T	S	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T1502S	False	False	False	False	False	O14647_1501_S
Q9BRB3	PIGQ	107	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.031578947368421054	Phosphatidylinositol N-acetylglucosaminyltransfera	E108K	False	False	False	True	False	Q9BRB3_107_K
Q9BRB3	PIGQ	501	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.031578947368421054	Phosphatidylinositol N-acetylglucosaminyltransfera	R502Q	False	False	False	True	False	Q9BRB3_501_Q
O14983	ATP2A1	539	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023976023976023976	Sarcoplasmic/endoplasmic reticulum calcium ATPase 	P540L	False	False	False	False	False	O14983_539_L
Q9BRB3	PIGQ	116	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.031578947368421054	Phosphatidylinositol N-acetylglucosaminyltransfera	A117V	False	False	False	True	False	Q9BRB3_116_V
Q9ULP9	TBC1D24	38	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	A39V	True	False	False	True	True	Q9ULP9_38_V
A2IDD5	CCDC78	296	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R297C	False	True	False	True	False	A2IDD5_296_C
A2IDD5	CCDC78	245	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R246Q	False	False	False	False	False	A2IDD5_245_Q
A2IDD5	CCDC78	66	D	G	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	D67G	False	False	False	False	False	A2IDD5_66_G
P09471	GNAO1	141	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	N142S	False	False	False	False	False	P09471_141_S
P23434	GCSH	72	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023121387283236993	Glycine cleavage system H protein, mitochondrial (	N73S	False	False	False	False	False	P23434_72_S
A2IDD5	CCDC78	251	W	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	W252Q	False	False	False	False	False	A2IDD5_251_Q
A2IDD5	CCDC78	230	R	Q	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R231Q	False	False	False	False	False	A2IDD5_230_Q
Q9UKX2	MYH2	1419	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	L1420F	False	False	False	False	False	Q9UKX2_1419_F
Q9BQ52	ELAC2	463	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	R464W	False	False	False	False	False	Q9BQ52_463_W
P49327	FASN	2004	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	V2005A	False	False	False	False	False	P49327_2004_A
P49327	FASN	1957	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	E1958K	False	False	False	False	False	P49327_1957_K
P49327	FASN	1823	R	W	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R1824W	False	False	False	False	False	P49327_1823_W
P49327	FASN	1369	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	G1370S	False	False	False	False	False	P49327_1369_S
O94989	ARHGEF15	158	G	A	0	ClinVar	criteria provided, single submitter	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	G159A	False	False	False	False	False	O94989_158_A
O94989	ARHGEF15	545	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R546P	False	False	False	False	False	O94989_545_P
O94989	ARHGEF15	834	T	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	T835N	False	False	False	False	False	O94989_834_N
O00555	CACNA1A	1753	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G1754R	False	False	False	False	False	O00555_1753_R
O00555	CACNA1A	1163	D	N	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1164N	False	False	False	False	False	O00555_1163_N
P35499	SCN4A	1141	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	R1142Q	False	False	False	False	False	P35499_1141_Q
P49327	FASN	2039	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A2040S	False	False	False	False	False	P49327_2039_S
P49327	FASN	1778	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P1779L	False	False	False	False	False	P49327_1778_L
P49327	FASN	1324	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P1325L	False	False	False	False	False	P49327_1324_L
P49327	FASN	1185	C	F	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	C1186F	False	False	True	True	False	P49327_1185_F
P49327	FASN	938	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	E939K	False	False	False	False	False	P49327_938_K
P49327	FASN	488	E	K	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	E489K	False	False	False	False	False	P49327_488_K
P50570	DNM2	617	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	A618D	False	False	False	False	False	P50570_617_D
P49327	FASN	1348	R	W	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R1349W	False	False	False	False	False	P49327_1348_W
P49327	FASN	616	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P617L	False	False	False	False	False	P49327_616_L
P49327	FASN	478	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	G479V	False	False	False	False	False	P49327_478_V
P49327	FASN	2184	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R2185Q	False	False	False	False	False	P49327_2184_Q
P49327	FASN	2176	R	H	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R2177H	False	False	False	False	False	P49327_2176_H
P49327	FASN	2124	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R2125Q	False	False	False	False	False	P49327_2124_Q
P49327	FASN	1887	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	I1888V	False	False	False	False	False	P49327_1887_V
O00555	CACNA1A	1059	P	S	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1060S	False	False	False	False	False	O00555_1059_S
P49327	FASN	1666	P	S	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P1667S	False	False	False	False	False	P49327_1666_S
O43426	SYNJ1	1196	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	T1197M	False	False	False	False	False	O43426_1196_M
P57059	SIK1	496	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A497S	False	False	False	False	False	P57059_496_S
P57059	SIK1	490	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	V491L	False	False	False	False	False	P57059_490_L
P52179	MYOM1	740	A	P	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	A741P	False	False	False	False	False	P52179_740_P
P12109	COL6A1	210	R	G	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R211G	False	False	False	False	False	P12109_210_G
P12109	COL6A1	365	A	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A366T	False	False	False	False	False	P12109_365_T
P12109	COL6A1	625	I	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	I626T	False	False	False	False	False	P12109_625_T
P12109	COL6A1	901	S	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S902N	False	False	False	False	False	P12109_901_N
P12110	COL6A2	270	G	V	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G271V	False	False	False	False	False	P12110_270_V
Q8WYQ3	CHCHD10	95	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	P96T	False	False	False	False	False	Q8WYQ3_95_T
Q8WYQ3	CHCHD10	45	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	A46S	True	False	False	False	True	Q8WYQ3_45_S
Q9NP73	ALG13	1073	Y	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Y1074F	False	False	False	False	False	Q9NP73_1073_F
O43526	KCNQ2	331	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R332G	False	False	False	False	False	O43526_331_G
O43526	KCNQ2	171	D	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D172G	False	False	False	False	False	O43526_171_G
Q13496	MTM1	484	A	V	0	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	A485V	False	False	False	False	False	Q13496_484_V
O43426	SYNJ1	515	V	I	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	V516I	False	False	False	False	False	O43426_515_I
P57059	SIK1	734	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G735D	False	False	False	False	False	P57059_734_D
P57059	SIK1	697	P	L	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P698L	False	False	False	False	False	P57059_697_L
P57059	SIK1	690	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G691D	False	False	False	False	False	P57059_690_D
P57059	SIK1	671	G	S	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G672S	False	False	False	False	False	P57059_671_S
P11532	DMD	2234	S	N	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	S2235N	False	False	False	False	False	P11532_2234_N
P57059	SIK1	376	E	K	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	E377K	False	False	False	False	False	P57059_376_K
P57059	SIK1	357	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P358A	False	False	False	False	False	P57059_357_A
P11532	DMD	312	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T313I	False	False	False	False	False	P11532_312_I
P12110	COL6A2	291	G	R	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G292R	False	False	False	False	False	P12110_291_R
Q14721	KCNB1	462	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I463T	False	False	False	False	False	Q14721_462_T
Q05639	EEF1A2	208	P	L	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	P209L	False	False	False	False	False	Q05639_208_L
O43426	SYNJ1	343	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	A344T	False	False	False	False	False	O43426_343_T
Q8TAB3	PCDH19	376	D	V	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D377V	False	False	False	False	False	Q8TAB3_376_V
Q8TAB3	PCDH19	89	D	H	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D90H	False	False	False	False	False	Q8TAB3_89_H
P57059	SIK1	724	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A725V	False	False	False	False	False	P57059_724_V
P57059	SIK1	263	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A264T	False	False	False	False	False	P57059_263_T
P12109	COL6A1	274	G	W	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G275W	False	False	False	False	False	P12109_274_W
P12109	COL6A1	289	G	W	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G290W	False	False	False	False	False	P12109_289_W
P12109	COL6A1	396	P	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P397L	False	False	False	False	False	P12109_396_L
Q3ZAQ7	VMA21	60	N	S	0	ClinVar	criteria provided, single submitter	0.0	Vacuolar ATPase assembly integral membrane protein	N61S	False	False	False	False	False	Q3ZAQ7_60_S
Q14721	KCNB1	838	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P839L	False	False	False	False	False	Q14721_838_L
P11532	DMD	1725	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	D1726G	False	False	False	False	False	P11532_1725_G
P11532	DMD	1720	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	K1721N	False	False	False	False	False	P11532_1720_N
O95831	AIFM1	198	K	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	K199N	False	False	False	False	False	O95831_198_N
P57059	SIK1	429	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	R430W	False	False	False	False	False	P57059_429_W
P12109	COL6A1	95	E	K	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E96K	False	False	False	False	False	P12109_95_K
P12110	COL6A2	640	V	M	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	V641M	False	False	False	False	False	P12110_640_M
Q8TAB3	PCDH19	1137	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P1138S	False	False	False	False	False	Q8TAB3_1137_S
Q99643	SDHC	74	G	R	1	ClinVar	criteria provided, single submitter	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	G75R	False	False	False	False	False	Q99643_74_R
P21912	SDHB	213	Q	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	Q214H	False	False	False	True	False	P21912_213_H
Q99643	SDHC	71	R	L	1	ClinVar	criteria provided, single submitter	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	R72L	False	False	False	False	False	Q99643_71_L
P21912	SDHB	217	W	S	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	W218S	False	False	False	True	False	P21912_217_S
O14521	SDHD	69	R	M	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	R70M	False	False	False	True	False	O14521_69_M
O14521	SDHD	147	G	V	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	G148V	False	False	False	True	False	O14521_147_V
O14521	SDHD	105	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	G106V	False	False	False	True	False	O14521_105_V
P11498	PC	889	V	F	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	V890F	False	False	False	False	False	P11498_889_F
P56556	NDUFA6	63	R	P	1	ClinVar	no assertion criteria provided	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R64P	False	False	False	False	False	P56556_63_P
P56556	NDUFA6	0	M	I	1	ClinVar	no assertion criteria provided	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1I	True	False	False	False	True	P56556_0_I
Q05586	GRIN1	826	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01279317697228145	Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glu	G827R	False	False	False	False	False	Q05586_826_R
P01137	TGFB1	44	R	C	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Transforming growth factor beta-1 proprotein [Clea	R45C	True	True	False	True	True	P01137_44_C
P47870	GABRB2	286	T	P	1	ClinVar	no assertion criteria provided	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	T287P	False	False	False	False	False	P47870_286_P
P47870	GABRB2	302	K	R	1	ClinVar	no assertion criteria provided	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	K303R	False	False	False	False	False	P47870_302_R
P47870	GABRB2	243	Y	H	1	ClinVar	no assertion criteria provided	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	Y244H	False	False	False	False	False	P47870_243_H
P47870	GABRB2	276	L	S	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	L277S	False	False	False	False	False	P47870_276_S
P01137	TGFB1	109	R	C	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Transforming growth factor beta-1 proprotein [Clea	R110C	False	True	False	True	False	P01137_109_C
P01137	TGFB1	386	C	R	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Transforming growth factor beta-1 proprotein [Clea	C387R	False	False	True	True	False	P01137_386_R
Q99250	SCN2A	211	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N212D	False	False	False	False	False	Q99250_211_D
P35498	SCN1A	1346	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1347N	False	False	False	False	False	P35498_1346_N
P30084	ECHS1	180	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	R181C	False	True	False	True	False	P30084_180_C
Q00577	PURA	165	R	C	1	ClinVar	no assertion criteria provided	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	R166C	False	True	False	True	False	Q00577_165_C
Q5JTZ9	AARS2	785	A	T	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	A786T	False	False	False	False	False	Q5JTZ9_785_T
O00555	CACNA1A	714	N	T	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	N715T	False	False	False	False	False	O00555_714_T
Q16854	DGUOK	51	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	S52F	False	False	False	False	False	Q16854_51_F
Q16854	DGUOK	249	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	L250S	False	False	False	False	False	Q16854_249_S
P30084	ECHS1	225	A	T	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A226T	False	False	False	False	False	P30084_225_T
P30084	ECHS1	131	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A132T	False	False	False	False	False	P30084_131_T
P30084	ECHS1	24	R	P	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	R25P	True	False	False	False	True	P30084_24_P
Q9BQ52	ELAC2	342	M	R	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	M343R	False	False	False	False	False	Q9BQ52_342_R
Q9BQ52	ELAC2	309	E	A	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	E310A	False	False	False	False	False	Q9BQ52_309_A
O95571	ETHE1	195	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	D196N	False	False	False	True	False	O95571_195_N
O95363	FARS2	63	S	R	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	S64R	False	False	False	False	False	O95363_63_R
O95363	FARS2	387	I	S	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	I388S	False	False	False	False	False	O95363_387_S
O43526	KCNQ2	280	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G281R	False	False	False	False	False	O43526_280_R
Q9Y5U8	MPC1	71	K	E	1	ClinVar	criteria provided, single submitter	0.027522935779816515	Mitochondrial pyruvate carrier 1 (Brain protein 44	K72E	False	False	False	False	False	Q9Y5U8_71_E
Q9Y2Z2	MTO1	320	K	N	1	ClinVar	criteria provided, single submitter	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	K321N	False	False	False	False	False	Q9Y2Z2_320_N
O00217	NDUFS8	146	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	M147I	False	False	False	True	False	O00217_146_I
Q9UMS0	NFU1	181	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	R182W	False	False	False	False	False	Q9UMS0_181_W
P08559	PDHA1	151	S	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	S152L	False	False	False	True	False	P08559_151_L
P08559	PDHA1	163	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	N164S	False	False	False	True	False	P08559_163_S
P08559	PDHA1	178	L	R	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L179R	False	False	False	True	False	P08559_178_R
Q5T160	RARS2	514	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	D515G	False	False	False	False	False	Q5T160_514_G
O75746	SLC25A12	539	D	N	1	ClinVar	criteria provided, single submitter	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	D540N	False	False	False	False	False	O75746_539_N
Q3ZCQ8	TIMM50	221	A	T	1	ClinVar	criteria provided, single submitter	0.0113314447592068	Mitochondrial import inner membrane translocase su	A222T	False	False	False	False	False	Q3ZCQ8_221_T
Q9H3S4	TPK1	191	C	W	1	ClinVar	criteria provided, single submitter	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	C192W	False	False	True	True	False	Q9H3S4_191_W
Q5ST30	VARS2	466	R	P	1	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R467P	False	False	False	False	False	Q5ST30_466_P
P02545	LMNA	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	M1I	True	False	False	False	True	P02545_0_I
P11166	SLC2A1	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	M1T	True	False	False	False	True	P11166_0_T
Q00577	PURA	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	M1V	True	False	False	False	True	Q00577_0_V
P22570	FDXR	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	M1V	True	False	False	False	True	P22570_0_V
P30049	ATP5F1D	105	V	G	1	ClinVar	no assertion criteria provided	0.0	ATP synthase F(1) complex subunit delta, mitochond	V106G	False	False	False	False	False	P30049_105_G
Q13224	GRIN2B	695	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R696H	False	False	False	False	False	Q13224_695_H
P50993	ATP1A2	365	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	G366S	False	False	False	False	False	P50993_365_S
P12110	COL6A2	875	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	R876H	False	False	False	False	False	P12110_875_H
P49770	EIF2B2	272	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	K273R	False	False	False	False	False	P49770_272_R
Q86VP3	PACS2	208	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015748031496062992	Phosphofurin acidic cluster sorting protein 2 (PAC	E209K	False	False	False	False	False	Q86VP3_208_K
P63267	ACTG2	210	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R211Q	False	False	False	False	False	P63267_210_Q
P16389	KCNA2	319	T	I	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	T320I	False	False	False	False	False	P16389_319_I
P35498	SCN1A	164	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y165H	False	False	False	False	False	P35498_164_H
Q9BYZ6	RHOBTB2	488	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	R489W	False	False	False	False	False	Q9BYZ6_488_W
Q05193	DNM1	147	Q	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	Q148K	False	False	False	False	False	Q05193_147_K
Q9UQD0	SCN8A	873	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A874T	False	False	False	False	False	Q9UQD0_873_T
O43526	KCNQ2	338	L	Q	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L339Q	False	False	False	False	False	O43526_338_Q
O43526	KCNQ2	276	T	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T277S	False	False	False	False	False	O43526_276_S
O43526	KCNQ2	259	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	H260Y	False	False	False	False	False	O43526_259_Y
O76039	CDKL5	58	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R59P	False	False	False	False	False	O76039_58_P
O76039	CDKL5	151	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	C152Y	False	False	True	True	False	O76039_151_Y
Q96QS3	ARX	346	F	V	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	F347V	False	False	False	False	False	Q96QS3_346_V
P20929	NEB	6365	S	I	1	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	S6366I	False	False	False	False	False	P20929_6365_I
P04049	RAF1	262	V	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	V263D	False	False	False	False	False	P04049_262_D
O95571	ETHE1	135	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	T136A	False	False	False	True	False	O95571_135_A
O75899	GABBR2	692	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	G693W	False	False	False	False	False	O75899_692_W
O75899	GABBR2	694	S	I	1	ClinVar	no assertion criteria provided	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	S695I	False	False	False	False	False	O75899_694_I
O75899	GABBR2	704	I	N	1	ClinVar	no assertion criteria provided	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I705N	False	False	False	False	False	O75899_704_N
O75899	GABBR2	706	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A707T	False	False	False	False	False	O75899_706_T
Q8N183	NDUFAF2	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1L	True	False	False	False	True	Q8N183_0_L
Q00577	PURA	170	R	G	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	R171G	False	False	False	False	False	Q00577_170_G
P09471	GNAO1	283	L	S	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	L284S	False	False	False	False	False	P09471_283_S
Q99714	HSD17B10	225	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	R226Q	False	False	False	False	False	Q99714_225_Q
P49821	NDUFV1	385	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R386H	False	False	False	False	False	P49821_385_H
Q9Y223	GNE	12	C	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	C13S	True	False	True	True	True	Q9Y223_12_S
P12111	COL6A3	2017	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	A2018V	False	False	False	False	False	P12111_2017_V
O43526	KCNQ2	0	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M1K	True	False	False	False	True	O43526_0_K
P11532	DMD	1211	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	A1212V	False	False	False	False	False	P11532_1211_V
Q9Y223	GNE	297	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	I298T	False	False	False	False	False	Q9Y223_297_T
Q9Y223	GNE	305	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R306Q	False	False	False	False	False	Q9Y223_305_Q
P12110	COL6A2	294	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G295R	False	False	False	False	False	P12110_294_R
P20929	NEB	3726	D	E	0	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	D3727E	False	False	False	False	False	P20929_3726_E
P11532	DMD	2981	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2982Q	False	False	False	False	False	P11532_2981_Q
Q15031	LARS2	613	R	G	0	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	R614G	False	False	False	False	False	Q15031_613_G
Q15031	LARS2	506	P	R	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	P507R	False	False	False	False	False	Q15031_506_R
Q99959	PKP2	559	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	G560W	False	False	False	False	False	Q99959_559_W
P12883	MYH7	640	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G641A	False	False	False	False	False	P12883_640_A
P12883	MYH7	402	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R403G	False	False	False	False	False	P12883_402_G
P12883	MYH7	284	I	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I285T	False	False	False	False	False	P12883_284_T
P00387	CYB5R3	252	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013289036544850499	NADH-cytochrome b5 reductase 3 (B5R) (Cytochrome b	V253M	False	False	False	False	False	P00387_252_M
P20929	NEB	7381	T	P	1	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	T7382P	False	False	False	False	False	P20929_7381_P
Q9BW92	TARS2	386	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	P387L	False	False	False	False	False	Q9BW92_386_L
Q92736	RYR2	4356	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	A4357T	False	False	False	False	False	Q92736_4356_T
Q92736	RYR2	308	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	M309T	False	False	False	False	False	Q92736_308_T
Q92736	RYR2	2015	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	S2016T	False	False	False	False	False	Q92736_2015_T
Q9HAZ2	PRDM16	1051	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028996865203761754	Histone-lysine N-methyltransferase PRDM16 (EC 2.1.	A1052T	False	False	False	False	False	Q9HAZ2_1051_T
P20929	NEB	6696	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	G6697R	False	False	False	False	False	P20929_6696_R
P20929	NEB	2057	I	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	I2058F	False	False	False	False	False	P20929_2057_F
P20929	NEB	3014	L	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	L3015S	False	False	False	False	False	P20929_3014_S
P20929	NEB	684	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	M685V	False	False	False	False	False	P20929_684_V
P35498	SCN1A	1212	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1213Q	False	False	False	False	False	P35498_1212_Q
Q8WZ42	TTN	2743	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	G2744A	False	False	False	False	False	Q8WZ42_2743_A
Q96GW9	MARS2	432	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	P433A	False	False	False	False	False	Q96GW9_432_A
Q96Q11	TRNT1	22	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	P23A	True	False	False	False	True	Q96Q11_22_A
P46976	GYG1	150	H	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017142857142857144	Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)	H151L	False	False	False	False	False	P46976_150_L
O60313	OPA1	60	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	Q61R	False	False	False	False	False	O60313_60_R
Q16363	LAMA4	40	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	A41V	True	False	False	False	True	Q16363_40_V
Q5ST30	VARS2	202	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	G203R	False	False	False	False	False	Q5ST30_202_R
Q96JX3	SERAC1	146	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	T147M	False	False	False	False	False	Q96JX3_146_M
Q05193	DNM1	528	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	N529S	False	False	False	False	False	Q05193_528_S
Q13813	SPTAN1	563	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R564H	False	False	False	False	False	Q13813_563_H
P61764	STXBP1	516	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A517T	False	False	False	False	False	P61764_516_T
O75112	LDB3	368	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S369G	False	False	False	False	False	O75112_368_G
Q13224	GRIN2B	1440	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1441H	False	False	False	False	False	Q13224_1440_H
Q16795	NDUFA9	376	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	I377M	False	False	False	False	False	Q16795_376_M
O14647	CHD2	1687	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1688N	False	False	False	False	False	O14647_1687_N
O14647	CHD2	284	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A285V	False	False	False	False	False	O14647_284_V
O14647	CHD2	1344	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1345P	False	False	False	False	False	O14647_1344_P
Q96L96	ALPK3	445	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	P446T	False	False	False	False	False	Q96L96_445_T
P54098	POLG	650	A	D	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A651D	False	False	False	False	False	P54098_650_D
O14647	CHD2	1573	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1574E	False	False	False	False	False	O14647_1573_E
O00555	CACNA1A	1101	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1102N	False	False	False	False	False	O00555_1101_N
Q14126	DSG2	18	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	N19D	True	False	False	False	True	Q14126_18_D
P13805	TNNT1	15	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035971223021582736	Troponin T, slow skeletal muscle (TnTs) (Slow skel	E16Q	True	False	False	False	True	P13805_15_Q
Q9NP73	ALG13	13	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	D14E	True	False	False	False	True	Q9NP73_13_E
Q9BR39	JPH2	590	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	G591R	False	False	False	False	False	Q9BR39_590_R
Q9NP73	ALG13	34	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	N35S	True	False	False	False	True	Q9NP73_34_S
Q9NP73	ALG13	1119	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	I1120V	False	False	False	False	False	Q9NP73_1119_V
O76039	CDKL5	695	A	T	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A696T	False	False	False	False	False	O76039_695_T
Q9NNW7	TXNRD2	22	A	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	A23E	True	False	False	False	True	Q9NNW7_22_E
Q9NP73	ALG13	610	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	L611F	False	False	False	False	False	Q9NP73_610_F
O95831	AIFM1	514	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	D515N	False	False	False	False	False	O95831_514_N
Q9NP73	ALG13	4	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	F5L	True	False	False	False	True	Q9NP73_4_L
Q9NP73	ALG13	789	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	G790E	False	False	False	False	False	Q9NP73_789_E
O76039	CDKL5	893	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A894T	False	False	False	False	False	O76039_893_T
P11532	DMD	1006	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	S1007L	False	False	False	False	False	P11532_1006_L
P23378	GLDC	351	T	R	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T352R	False	False	False	False	False	P23378_351_R
Q9BT09	CNPY3	124	G	R	1	ClinVar	no assertion criteria provided	0.025179856115107913	Protein canopy homolog 3 (CTG repeat protein 4a) (	G125R	False	False	False	False	False	Q9BT09_124_R
Q9P0K1	ADAM22	400	C	Y	1	ClinVar	no assertion criteria provided	0.05077262693156733	Disintegrin and metalloproteinase domain-containin	C401Y	False	False	True	True	False	Q9P0K1_400_Y
Q92736	RYR2	356	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	G357S	False	False	False	False	False	Q92736_356_S
Q92736	RYR2	2366	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	G2367R	False	False	False	False	False	Q92736_2366_R
O95817	BAG3	552	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	E553D	False	False	False	False	False	O95817_552_D
Q86TC9	MYPN	633	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	G634R	False	False	False	False	False	Q86TC9_633_R
Q86TC9	MYPN	1055	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	S1056F	False	False	False	False	False	Q86TC9_1055_F
P13533	MYH6	1733	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	S1734L	False	False	False	False	False	P13533_1733_L
P12883	MYH7	872	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L873P	False	False	False	False	False	P12883_872_P
P12883	MYH7	857	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R858P	False	False	False	False	False	P12883_857_P
Q9BR39	JPH2	602	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	P603L	False	False	False	False	False	Q9BR39_602_L
Q9NNW7	TXNRD2	398	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	V399I	False	False	False	False	False	Q9NNW7_398_I
P11532	DMD	2066	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T2067M	False	False	False	False	False	P11532_2066_M
Q15526	SURF1	257	P	S	1	ClinVar	no assertion criteria provided	0.01	Surfeit locus protein 1	P258S	False	False	False	False	False	Q15526_257_S
P02545	LMNA	203	L	R	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	L204R	False	False	False	False	False	P02545_203_R
Q99250	SCN2A	262	A	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A263E	False	False	False	False	False	Q99250_262_E
O43526	KCNQ2	143	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R144G	False	False	False	False	False	O43526_143_G
Q05193	DNM1	345	G	S	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G346S	False	False	False	False	False	Q05193_345_S
P13533	MYH6	244	F	L	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	F245L	False	False	False	False	False	P13533_244_L
Q15878	CACNA1E	701	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A702T	False	False	False	False	False	Q15878_701_T
Q9NVF7	FBXO28	347	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01358695652173913	F-box only protein 28	R348L	False	False	False	False	False	Q9NVF7_347_L
P68133	ACTA1	289	D	H	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D290H	False	False	False	False	False	P68133_289_H
Q9NY46	SCN3A	1768	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	V1769A	False	False	False	False	False	Q9NY46_1768_A
Q99250	SCN2A	1772	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1773V	False	False	False	False	False	Q99250_1772_V
P12111	COL6A3	2079	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G2080R	False	False	False	False	False	P12111_2079_R
P10589	NR2F1	141	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R142H	False	False	False	True	False	P10589_141_H
Q9BYZ6	RHOBTB2	487	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	N488D	False	False	False	False	False	Q9BYZ6_487_D
Q05193	DNM1	42	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G43S	True	False	False	False	True	Q05193_42_S
Q05193	DNM1	44	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	S45N	True	False	False	False	True	Q05193_44_N
Q05193	DNM1	358	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G359R	False	False	False	False	False	Q05193_358_R
Q15526	SURF1	79	Q	H	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	Q80H	False	False	False	False	False	Q15526_79_H
P23378	GLDC	372	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R373W	False	False	False	False	False	P23378_372_W
Q9UQD0	SCN8A	1759	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1760T	False	False	False	False	False	Q9UQD0_1759_T
P54098	POLG	1105	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	V1106A	False	False	False	False	False	P54098_1105_A
P22570	FDXR	385	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	R386W	False	False	False	False	False	P22570_385_W
P12109	COL6A1	274	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G275V	False	False	False	False	False	P12109_274_V
P12110	COL6A2	300	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G301D	False	False	False	False	False	P12110_300_D
P08559	PDHA1	205	E	Q	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E206Q	False	False	False	True	False	P08559_205_Q
P08559	PDHA1	244	R	S	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R245S	False	False	False	True	False	P08559_244_S
P39210	MPV17	91	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	D92G	False	False	False	False	False	P39210_91_G
O75306	NDUFS2	89	A	T	1	ClinVar	criteria provided, single submitter	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	A90T	False	False	False	False	False	O75306_89_T
Q15813	TBCE	110	V	G	1	ClinVar	criteria provided, single submitter	0.020872865275142316	Tubulin-specific chaperone E (Tubulin-folding cofa	V111G	False	False	False	False	False	Q15813_110_G
P17661	DES	383	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	H384R	False	False	False	False	False	P17661_383_R
Q96RP9	GFM1	131	E	A	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	E132A	False	False	False	False	False	Q96RP9_131_A
P08243	ASNS	67	P	T	1	ClinVar	criteria provided, single submitter	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	P68T	False	False	False	False	False	P08243_67_T
P49770	EIF2B2	307	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011396011396011397	Translation initiation factor eIF2B subunit beta (	V308M	False	False	False	False	False	P49770_307_M
O95140	MFN2	475	R	G	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R476G	False	False	False	False	False	O95140_475_G
Q8WZ42	TTN	1162	G	R	1	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	G1163R	False	False	False	False	False	Q8WZ42_1162_R
Q330K2	NDUFAF6	239	G	V	1	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	G240V	False	False	False	False	False	Q330K2_239_V
P51530	DNA2	1004	T	I	1	ClinVar	criteria provided, single submitter	0.02830188679245283	DNA replication ATP-dependent helicase/nuclease DN	T1005I	False	False	False	False	False	P51530_1004_I
P12109	COL6A1	648	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	E649K	False	False	False	False	False	P12109_648_K
O75439	PMPCB	174	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026584867075664622	Mitochondrial-processing peptidase subunit beta (E	R175C	False	True	False	True	False	O75439_174_C
O75439	PMPCB	174	R	H	1	ClinVar	criteria provided, single submitter	0.026584867075664622	Mitochondrial-processing peptidase subunit beta (E	R175H	False	False	False	False	False	O75439_174_H
O75439	PMPCB	176	V	G	1	ClinVar	no assertion criteria provided	0.026584867075664622	Mitochondrial-processing peptidase subunit beta (E	V177G	False	False	False	False	False	O75439_176_G
O75439	PMPCB	421	I	T	1	ClinVar	no assertion criteria provided	0.026584867075664622	Mitochondrial-processing peptidase subunit beta (E	I422T	False	False	False	False	False	O75439_421_T
Q330K2	NDUFAF6	280	P	A	1	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	P281A	False	False	False	False	False	Q330K2_280_A
O00555	CACNA1A	1806	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1807S	False	False	False	False	False	O00555_1806_S
Q14721	KCNB1	311	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R312H	False	False	False	False	False	Q14721_311_H
Q92743	HTRA1	119	G	D	1	ClinVar	criteria provided, single submitter	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	G120D	False	False	False	True	False	Q92743_119_D
Q92743	HTRA1	178	I	N	1	ClinVar	criteria provided, single submitter	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	I179N	False	False	False	True	False	Q92743_178_N
Q92743	HTRA1	275	G	A	1	ClinVar	criteria provided, single submitter	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	G276A	False	False	False	True	False	Q92743_275_A
Q92743	HTRA1	323	N	T	1	ClinVar	criteria provided, single submitter	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	N324T	False	False	False	True	False	Q92743_323_T
P16389	KCNA2	405	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	V406F	False	False	False	False	False	P16389_405_F
P16389	KCNA2	337	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	G338E	False	False	False	False	False	P16389_337_E
O95140	MFN2	737	A	T	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A738T	False	False	False	False	False	O95140_737_T
O95140	MFN2	104	T	A	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T105A	False	False	False	False	False	O95140_104_A
O95140	MFN2	360	H	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H361P	False	False	False	False	False	O95140_360_P
O95140	MFN2	231	T	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T232P	False	False	False	False	False	O95140_231_P
P06753	TPM3	99	L	V	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	L100V	False	False	False	False	False	P06753_99_V
Q13698	CACNA1S	1695	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	T1696M	False	False	False	False	False	Q13698_1695_M
P68133	ACTA1	149	T	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	T150S	False	False	False	False	False	P68133_149_S
P35609	ACTN2	590	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	I591M	False	False	False	False	False	P35609_590_M
P68133	ACTA1	333	P	L	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P334L	False	False	False	False	False	P68133_333_L
P68133	ACTA1	153	V	A	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V154A	False	False	False	False	False	P68133_153_A
P68133	ACTA1	48	M	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M49R	True	False	False	False	True	P68133_48_R
P35609	ACTN2	37	K	R	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	K38R	True	False	False	False	True	P35609_37_R
Q92736	RYR2	803	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	L804F	False	False	False	False	False	Q92736_803_F
Q00839	HNRNPU	278	E	D	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	E279D	False	False	False	False	False	Q00839_278_D
Q00839	HNRNPU	650	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	E651A	False	False	False	False	False	Q00839_650_A
P11166	SLC2A1	95	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	M96V	False	False	False	False	False	P11166_95_V
P11166	SLC2A1	399	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R400L	False	False	False	False	False	P11166_399_L
P49792	RANBP2	801	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	R802Q	False	False	False	False	False	P49792_801_Q
P49792	RANBP2	2491	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	T2492A	False	False	False	False	False	P49792_2491_A
P49792	RANBP2	2890	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	G2891S	False	False	False	False	False	P49792_2890_S
P49792	RANBP2	2556	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	N2557S	False	False	False	False	False	P49792_2556_S
P20929	NEB	3991	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I3992V	False	False	False	False	False	P20929_3991_V
P20929	NEB	1659	P	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P1660S	False	False	False	False	False	P20929_1659_S
P20929	NEB	6492	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V6493M	False	False	False	False	False	P20929_6492_M
P20929	NEB	253	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T254M	False	False	False	False	False	P20929_253_M
P20929	NEB	7808	R	W	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7809W	False	False	False	False	False	P20929_7808_W
P20929	NEB	2297	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2298V	False	False	False	False	False	P20929_2297_V
P35498	SCN1A	1754	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1755Y	False	False	False	False	False	P35498_1754_Y
P20929	NEB	497	D	G	1	ClinVar	reviewed by expert panel	0.00809384164222874	Nebulin	D498G	False	False	False	False	False	P20929_497_G
P20929	NEB	107	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	T108A	False	False	False	False	False	P20929_107_A
P35498	SCN1A	953	E	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E954D	False	False	False	False	False	P35498_953_D
P20929	NEB	406	F	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F407L	False	False	False	False	False	P20929_406_L
P20929	NEB	292	P	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P293S	False	False	False	False	False	P20929_292_S
P35498	SCN1A	132	L	V	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L133V	False	False	False	False	False	P35498_132_V
P35498	SCN1A	1723	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1724V	False	False	False	False	False	P35498_1723_V
Q99250	SCN2A	1500	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1501T	False	False	False	False	False	Q99250_1500_T
P35498	SCN1A	1484	N	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1485D	False	False	False	False	False	P35498_1484_D
P35498	SCN1A	1865	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1866G	False	False	False	False	False	P35498_1865_G
P35498	SCN1A	1654	G	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1655A	False	False	False	False	False	P35498_1654_A
P35498	SCN1A	316	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y317H	False	False	False	False	False	P35498_316_H
P35498	SCN1A	250	M	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M251R	False	False	False	False	False	P35498_250_R
P35498	SCN1A	44	D	E	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D45E	True	False	False	False	True	P35498_44_E
P35498	SCN1A	392	R	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R393P	False	False	False	False	False	P35498_392_P
P35498	SCN1A	1756	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1757R	False	False	False	False	False	P35498_1756_R
P35498	SCN1A	478	L	I	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L479I	False	False	False	False	False	P35498_478_I
P35498	SCN1A	0	M	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1I	True	False	False	False	True	P35498_0_I
O60662	KLHL41	304	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	L305F	False	False	False	False	False	O60662_304_F
P12111	COL6A3	1423	R	C	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1424C	False	True	False	True	False	P12111_1423_C
P12111	COL6A3	3135	S	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S3136N	False	False	False	False	False	P12111_3135_N
P46976	GYG1	32	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017142857142857144	Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)	R33K	True	False	False	False	True	P46976_32_K
Q2TBA0	KLHL40	600	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	A601T	False	False	False	False	False	Q2TBA0_600_T
Q2TBA0	KLHL40	498	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	A499T	False	False	False	False	False	Q2TBA0_498_T
O60741	HCN1	682	P	T	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P683T	False	False	False	False	False	O60741_682_T
O60741	HCN1	686	T	N	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	T687N	False	False	False	False	False	O60741_686_N
O60741	HCN1	8	S	P	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S9P	True	False	False	False	True	O60741_8_P
Q16363	LAMA4	274	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	K275R	False	False	False	False	False	Q16363_274_R
Q99715	COL12A1	1663	T	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T1664N	False	False	False	False	False	Q99715_1663_N
Q99715	COL12A1	1625	S	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	S1626A	False	False	False	False	False	Q99715_1625_A
Q9NZV8	KCND2	441	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	N442S	False	False	False	False	False	Q9NZV8_441_S
Q99715	COL12A1	1833	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	R1834Q	False	False	False	False	False	Q99715_1833_Q
Q99715	COL12A1	826	T	M	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T827M	False	False	False	False	False	Q99715_826_M
Q99715	COL12A1	1645	V	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V1646L	False	False	False	False	False	Q99715_1645_L
Q14315	FLNC	1018	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G1019S	False	False	False	False	False	Q14315_1018_S
Q14315	FLNC	792	E	K	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	E793K	False	False	False	False	False	Q14315_792_K
Q14315	FLNC	946	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G947R	False	False	False	False	False	Q14315_946_R
Q6PJG6	BRAT1	668	P	L	0	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	P669L	False	False	False	True	False	Q6PJG6_668_L
Q14315	FLNC	1714	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V1715I	False	False	False	False	False	Q14315_1714_I
Q14315	FLNC	2330	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V2331M	False	False	False	False	False	Q14315_2330_M
Q6PJG6	BRAT1	620	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R621Q	False	False	False	True	False	Q6PJG6_620_Q
Q6PJG6	BRAT1	242	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R243H	False	False	False	True	False	Q6PJG6_242_H
Q05193	DNM1	147	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	Q148R	False	False	False	False	False	Q05193_147_R
Q05193	DNM1	538	K	E	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	K539E	False	False	False	False	False	Q05193_538_E
Q16698	DECR1	25	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producin	S26N	True	False	False	False	True	Q16698_25_N
Q05586	GRIN1	642	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01279317697228145	Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glu	I643V	False	False	False	False	False	Q05586_642_V
Q13813	SPTAN1	1029	A	P	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A1030P	False	False	False	False	False	Q13813_1029_P
O75899	GABBR2	922	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A923T	False	False	False	False	False	O75899_922_T
P23378	GLDC	774	H	Y	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H775Y	False	False	False	False	False	P23378_774_Y
P23378	GLDC	381	C	Y	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C382Y	False	False	True	True	False	P23378_381_Y
P23378	GLDC	502	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	E503A	False	False	False	False	False	P23378_502_A
Q15652	JMJD1C	1274	M	L	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	M1275L	False	False	False	False	False	Q15652_1274_L
O75899	GABBR2	199	T	M	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T200M	False	False	False	False	False	O75899_199_M
Q15652	JMJD1C	636	K	R	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	K637R	False	False	False	False	False	Q15652_636_R
Q15652	JMJD1C	622	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	I623T	False	False	False	False	False	Q15652_622_T
P10916	MYL2	57	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Myosin regulatory light chain 2, ventricular/cardi	R58L	False	False	False	False	False	P10916_57_L
Q96D31	ORAI1	16	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009966777408637873	Calcium release-activated calcium channel protein 	P17S	True	False	False	False	True	Q96D31_16_S
Q96D31	ORAI1	222	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009966777408637873	Calcium release-activated calcium channel protein 	N223S	False	False	False	False	False	Q96D31_222_S
Q13224	GRIN2B	1227	T	M	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T1228M	False	False	False	False	False	Q13224_1227_M
Q13224	GRIN2B	986	H	R	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	H987R	False	False	False	False	False	Q13224_986_R
Q13224	GRIN2B	1168	G	R	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G1169R	False	False	False	False	False	Q13224_1168_R
O60706	ABCC9	664	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	A665T	False	False	False	False	False	O60706_664_T
Q13224	GRIN2B	1295	N	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N1296H	False	False	False	False	False	Q13224_1295_H
Q9UQD0	SCN8A	1580	F	Y	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F1581Y	False	False	False	False	False	Q9UQD0_1580_Y
Q9UQD0	SCN8A	1090	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1091S	False	False	False	False	False	Q9UQD0_1090_S
Q96MF2	STAC3	294	F	L	0	ClinVar	criteria provided, single submitter	0.019230769230769232	SH3 and cysteine-rich domain-containing protein 3	F295L	False	False	False	False	False	Q96MF2_294_L
Q9UQD0	SCN8A	533	N	S	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N534S	False	False	False	False	False	Q9UQD0_533_S
Q13224	GRIN2B	1471	H	Q	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	H1472Q	False	False	False	False	False	Q13224_1471_Q
Q9UHD2	TBK1	270	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015089163237311385	Serine/threonine-protein kinase TBK1 (EC 2.7.11.1)	R271Q	False	False	False	False	False	Q9UHD2_270_Q
Q5BKY1	LRRC10	190	F	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02888086642599278	Leucine-rich repeat-containing protein 10	F191I	False	False	False	False	False	Q5BKY1_190_I
P12883	MYH7	821	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M822V	False	False	False	False	False	P12883_821_V
P12883	MYH7	864	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K865R	False	False	False	False	False	P12883_864_R
P12883	MYH7	803	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L804P	False	False	False	False	False	P12883_803_P
Q8NCM2	KCNH5	745	S	P	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	S746P	False	False	False	False	False	Q8NCM2_745_P
P12883	MYH7	386	L	F	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L387F	False	False	False	False	False	P12883_386_F
P12883	MYH7	164	M	I	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M165I	False	False	False	False	False	P12883_164_I
Q15413	RYR3	1515	S	N	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	S1516N	False	False	False	False	False	Q15413_1515_N
Q15413	RYR3	1478	E	K	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E1479K	False	False	False	False	False	Q15413_1478_K
Q15413	RYR3	2584	T	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	T2585R	False	False	False	False	False	Q15413_2584_R
Q15413	RYR3	3017	L	I	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	L3018I	False	False	False	False	False	Q15413_3017_I
Q15413	RYR3	4389	N	D	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N4390D	False	False	False	False	False	Q15413_4389_D
C9JR72	KBTBD13	102	S	L	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	S103L	False	False	False	True	False	C9JR72_102_L
Q15413	RYR3	3118	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E3119K	False	False	False	False	False	Q15413_3118_K
Q15413	RYR3	241	N	S	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N242S	False	False	False	False	False	Q15413_241_S
Q15413	RYR3	2994	V	E	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	V2995E	False	False	False	False	False	Q15413_2994_E
Q15413	RYR3	4277	M	T	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	M4278T	False	False	False	False	False	Q15413_4277_T
O14647	CHD2	1648	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1649S	False	False	False	False	False	O14647_1648_S
O14647	CHD2	440	I	F	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	I441F	False	False	False	False	False	O14647_440_F
A2IDD5	CCDC78	191	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R192Q	False	False	False	False	False	A2IDD5_191_Q
A2IDD5	CCDC78	102	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R103Q	False	False	False	False	False	A2IDD5_102_Q
Q9UQ90	SPG7	671	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	G672R	False	False	False	False	False	Q9UQ90_671_R
A2IDD5	CCDC78	260	A	T	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	A261T	False	False	False	False	False	A2IDD5_260_T
P09471	GNAO1	112	R	Q	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R113Q	False	False	False	False	False	P09471_112_Q
P09471	GNAO1	270	K	N	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	K271N	False	False	False	False	False	P09471_270_N
A2IDD5	CCDC78	347	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R348Q	False	False	False	False	False	A2IDD5_347_Q
P49327	FASN	2389	L	R	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	L2390R	False	False	False	False	False	P49327_2389_R
P49327	FASN	1936	V	I	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	V1937I	False	False	False	False	False	P49327_1936_I
P49327	FASN	2124	R	W	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R2125W	False	False	False	False	False	P49327_2124_W
P49327	FASN	1192	N	S	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	N1193S	False	False	False	False	False	P49327_1192_S
P49327	FASN	1967	V	I	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	V1968I	False	False	False	False	False	P49327_1967_I
P49327	FASN	1112	I	V	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	I1113V	False	False	False	False	False	P49327_1112_V
P49327	FASN	1930	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R1931Q	False	False	False	False	False	P49327_1930_Q
P49327	FASN	2397	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A2398S	False	False	False	False	False	P49327_2397_S
P49327	FASN	154	I	V	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	I155V	False	False	False	False	False	P49327_154_V
P49327	FASN	1803	S	R	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	S1804R	False	False	False	False	False	P49327_1803_R
P49327	FASN	1077	V	M	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	V1078M	False	False	False	False	False	P49327_1077_M
P52179	MYOM1	190	T	M	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	T191M	False	False	False	False	False	P52179_190_M
P21817	RYR1	1174	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E1175K	False	False	False	False	False	P21817_1174_K
O00555	CACNA1A	2098	E	K	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E2099K	False	False	False	False	False	O00555_2098_K
O00555	CACNA1A	1262	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E1263K	False	False	False	False	False	O00555_1262_K
Q14721	KCNB1	209	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T210M	False	False	False	False	False	Q14721_209_M
Q14721	KCNB1	787	T	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T788K	False	False	False	False	False	Q14721_787_K
O43526	KCNQ2	334	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P335S	False	False	False	False	False	O43526_334_S
Q05639	EEF1A2	383	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	G384R	False	False	False	False	False	Q05639_383_R
O43426	SYNJ1	980	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	M981I	False	False	False	False	False	O43426_980_I
P57059	SIK1	459	T	M	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	T460M	False	False	False	False	False	P57059_459_M
P57059	SIK1	517	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A518V	False	False	False	False	False	P57059_517_V
P57059	SIK1	356	G	R	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G357R	False	False	False	False	False	P57059_356_R
P57059	SIK1	354	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	R355H	False	False	False	False	False	P57059_354_H
P57059	SIK1	293	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A294V	False	False	False	False	False	P57059_293_V
P57059	SIK1	347	Y	C	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	Y348C	False	True	False	True	False	P57059_347_C
P12110	COL6A2	841	E	K	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	E842K	False	False	False	False	False	P12110_841_K
P12109	COL6A1	669	M	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	M670T	False	False	False	False	False	P12109_669_T
Q8WYQ3	CHCHD10	134	Y	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	Y135H	False	False	False	False	False	Q8WYQ3_134_H
Q14721	KCNB1	717	V	M	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V718M	False	False	False	False	False	Q14721_717_M
Q8WYQ3	CHCHD10	37	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	P38L	True	False	False	False	True	Q8WYQ3_37_L
Q05639	EEF1A2	68	R	C	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	R69C	False	True	False	True	False	Q05639_68_C
O95831	AIFM1	536	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	E537K	False	False	False	False	False	O95831_536_K
P12109	COL6A1	301	G	E	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G302E	False	False	False	False	False	P12109_301_E
P11532	DMD	292	K	E	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	K293E	False	False	False	False	False	P11532_292_E
Q96QS3	ARX	200	P	Q	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	P201Q	False	False	False	False	False	Q96QS3_200_Q
P11532	DMD	1587	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	A1588S	False	False	False	False	False	P11532_1587_S
P11532	DMD	1157	K	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	K1158E	False	False	False	False	False	P11532_1157_E
P11532	DMD	2593	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	Q2594R	False	False	False	False	False	P11532_2593_R
P11532	DMD	2019	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	A2020P	False	False	False	False	False	P11532_2019_P
Q9NP73	ALG13	1126	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	P1127S	False	False	False	False	False	Q9NP73_1126_S
Q13496	MTM1	403	E	K	1	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	E404K	False	False	False	False	False	Q13496_403_K
P51608	MECP2	403	E	A	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	E404A	False	False	False	False	False	P51608_403_A
P11532	DMD	3615	T	P	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	T3616P	False	False	False	False	False	P11532_3615_P
P11532	DMD	1368	I	V	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	I1369V	False	False	False	False	False	P11532_1368_V
Q14315	FLNC-AS1;FLNC	2297	P	S	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P2298S	False	False	False	False	False	Q14315_2297_S
Q9Y276	BCS1L	251	C	Y	1	ClinVar	no assertion criteria provided	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	C252Y	False	False	True	True	False	Q9Y276_251_Y
Q9UKA2	FBXL4	535	Q	P	1	ClinVar	no assertion criteria provided	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	Q536P	False	False	False	True	False	Q9UKA2_535_P
P35658	NUP214	37	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006220095693779904	Nuclear pore complex protein Nup214 (214 kDa nucle	R38C	True	True	False	True	True	P35658_37_C
Q9BYZ6	RHOBTB2	460	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	R461H	False	False	False	False	False	Q9BYZ6_460_H
Q9BYZ6	RHOBTB2	488	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	R489Q	False	False	False	False	False	Q9BYZ6_488_Q
Q9BYZ6	RHOBTB2	451	A	G	1	ClinVar	criteria provided, single submitter	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	A452G	False	False	False	False	False	Q9BYZ6_451_G
Q96F07	CYFIP2	86	R	L	1	ClinVar	criteria provided, single submitter	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	R87L	False	False	False	False	False	Q96F07_86_L
Q96F07	CYFIP2	86	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	R87P	False	False	False	False	False	Q96F07_86_P
Q14721	KCNB1	394	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G395R	False	False	False	False	False	Q14721_394_R
P08243	ASNS	388	E	Q	1	ClinVar	no assertion criteria provided	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	E389Q	False	False	False	False	False	P08243_388_Q
Q16740	CLPP	207	I	M	1	ClinVar	no assertion criteria provided	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	I208M	False	False	False	False	False	Q16740_207_M
P38606	ATP6V1A	99	D	Y	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	D100Y	False	False	False	False	False	P38606_99_Y
P38606	ATP6V1A	348	D	N	1	ClinVar	no assertion criteria provided	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	D349N	False	False	False	False	False	P38606_348_N
P38606	ATP6V1A	26	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	P27R	True	False	False	False	True	P38606_26_R
P38606	ATP6V1A	370	D	G	1	ClinVar	no assertion criteria provided	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	D371G	False	False	False	False	False	P38606_370_G
Q5T440	IBA57	145	R	W	1	ClinVar	no assertion criteria provided	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	R146W	False	False	False	False	False	Q5T440_145_W
Q5T440	IBA57	195	W	G	1	ClinVar	no assertion criteria provided	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	W196G	False	False	False	False	False	Q5T440_195_G
Q5T440	IBA57	228	P	L	1	ClinVar	no assertion criteria provided	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	P229L	False	False	False	False	False	Q5T440_228_L
Q5T440	IBA57	235	P	S	1	ClinVar	no assertion criteria provided	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	P236S	False	False	False	False	False	Q5T440_235_S
Q5T440	IBA57	95	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	Y96H	False	False	False	False	False	Q5T440_95_H
Q5T440	IBA57	105	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	T106A	False	False	False	False	False	Q5T440_105_A
Q5T440	IBA57	107	Y	S	1	ClinVar	criteria provided, single submitter	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	Y108S	False	False	False	False	False	Q5T440_107_S
O00555	CACNA1A	278	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R279C	False	True	False	True	False	O00555_278_C
P47870	GABRB2	315	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	V316I	False	False	False	False	False	P47870_315_I
Q9UM47	NOTCH3	543	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R544C	False	True	False	True	False	Q9UM47_543_C
Q9UM47	NOTCH3	310	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C311F	False	False	True	True	False	Q9UM47_310_F
P51608	MECP2	299	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	V300M	False	False	False	False	False	P51608_299_M
P12883	MYH7	704	C	Y	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	C705Y	False	False	True	True	False	P12883_704_Y
Q15046	KARS1	229	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	R230S	False	False	False	False	False	Q15046_229_S
O95169	NDUFB8	75	P	Q	1	ClinVar	no assertion criteria provided	0.010752688172043012	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	P76Q	False	False	False	False	False	O95169_75_Q
O95169	NDUFB8	143	C	W	1	ClinVar	no assertion criteria provided	0.010752688172043012	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	C144W	False	False	True	True	False	O95169_143_W
O95169	NDUFB8	61	Y	H	1	ClinVar	no assertion criteria provided	0.010752688172043012	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	Y62H	False	False	False	False	False	O95169_61_H
P55084	HADHB	300	G	R	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	G301R	False	False	False	False	False	P55084_300_R
O76039	CDKL5	364	S	T	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	S365T	False	False	False	False	False	O76039_364_T
Q99250	SCN2A	1600	V	L	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1601L	False	False	False	False	False	Q99250_1600_L
Q14315	FLNC	2562	Y	C	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	Y2563C	False	True	False	True	False	Q14315_2562_C
O95140	MFN2	51	E	K	1	ClinVar	no assertion criteria provided	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	E52K	False	False	False	False	False	O95140_51_K
P49588	AARS1	957	F	S	1	ClinVar	no assertion criteria provided	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	F958S	False	False	False	False	False	P49588_957_S
P23786	CPT2	501	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	I502T	False	False	False	False	False	P23786_501_T
P20929	NEB	3984	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y3985C	False	True	False	True	False	P20929_3984_C
P20929	NEB	1445	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	G1446V	False	False	False	False	False	P20929_1445_V
P42704	LRPPRC	0	M	K	1	ClinVar	no assertion criteria provided	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	M1K	True	False	False	False	True	P42704_0_K
P42704	LRPPRC	0	M	I	1	ClinVar	no assertion criteria provided	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	M1I	True	False	False	False	True	P42704_0_I
P40939	HADHA	570	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	L571P	False	False	False	False	False	P40939_570_P
P05166	PCCB	375	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R376L	False	False	False	False	False	P05166_375_L
P05166	PCCB	164	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R165Q	False	False	False	False	False	P05166_164_Q
P05166	PCCB	106	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	V107M	False	False	False	False	False	P05166_106_M
P05166	PCCB	187	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G188R	False	False	False	False	False	P05166_187_R
P05166	PCCB	254	G	S	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G255S	False	False	False	False	False	P05166_254_S
P05166	PCCB	433	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	A434V	False	False	False	False	False	P05166_433_V
P05166	PCCB	409	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R410Q	False	False	False	False	False	P05166_409_Q
P48728	AMT	70	H	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	H71P	False	False	False	False	False	P48728_70_P
P48728	AMT	221	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R222C	False	True	False	True	False	P48728_221_C
P48728	AMT	93	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R94W	False	False	False	False	False	P48728_93_W
P48728	AMT	264	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R265H	False	False	False	False	False	P48728_264_H
P48728	AMT	264	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R265C	False	True	False	True	False	P48728_264_C
P48728	AMT	319	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R320C	False	True	False	True	False	P48728_319_C
Q9Y223	GNE	518	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	N519S	False	False	False	False	False	Q9Y223_518_S
Q9Y223	GNE	352	K	E	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	K353E	False	False	False	False	False	Q9Y223_352_E
Q9Y223	GNE	100	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R101C	False	True	False	True	False	Q9Y223_100_C
Q9Y223	GNE	10	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R11W	True	False	False	False	True	Q9Y223_10_W
P23378	GLDC	994	D	N	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	D995N	False	False	False	False	False	P23378_994_N
P23378	GLDC	987	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R988Q	False	False	False	False	False	P23378_987_Q
P23378	GLDC	987	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R988W	False	False	False	False	False	P23378_987_W
P23378	GLDC	745	D	E	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	D746E	False	False	False	False	False	P23378_745_E
Q9Y223	GNE	707	G	S	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	G708S	False	False	False	False	False	Q9Y223_707_S
Q9Y223	GNE	508	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	H509Y	False	False	False	False	False	Q9Y223_508_Y
P23378	GLDC	765	G	V	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G766V	False	False	False	False	False	P23378_765_V
P23378	GLDC	656	S	N	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S657N	False	False	False	False	False	P23378_656_N
P23378	GLDC	535	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R536W	False	False	False	False	False	P23378_535_W
P23378	GLDC	361	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R362C	False	True	False	True	False	P23378_361_C
P23378	GLDC	266	P	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P267A	False	False	False	False	False	P23378_266_A
P23378	GLDC	550	S	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S551I	False	False	False	False	False	P23378_550_I
P23378	GLDC	394	F	L	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	F395L	False	False	False	False	False	P23378_394_L
P23378	GLDC	81	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L82S	False	False	False	False	False	P23378_81_S
Q9Y223	GNE	303	G	R	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	G304R	False	False	False	False	False	Q9Y223_303_R
Q9Y223	GNE	176	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	R177C	False	True	False	True	False	Q9Y223_176_C
Q9Y223	GNE	26	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	P27L	True	False	False	False	True	Q9Y223_26_L
P23378	GLDC	606	G	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G607S	False	False	False	False	False	P23378_606_S
P23378	GLDC	558	T	N	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T559N	False	False	False	False	False	P23378_558_N
P23378	GLDC	547	L	V	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L548V	False	False	False	False	False	P23378_547_V
P23378	GLDC	460	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R461W	False	False	False	False	False	P23378_460_W
P23378	GLDC	303	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P304L	False	False	False	False	False	P23378_303_L
P23378	GLDC	266	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P267L	False	False	False	False	False	P23378_266_L
P11498	PC	868	G	D	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	G869D	False	False	False	False	False	P11498_868_D
P05165	PCCA	219	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	A220D	False	False	False	False	False	P05165_219_D
P11498	PC	194	A	V	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A195V	False	False	False	False	False	P11498_194_V
P05165	PCCA	76	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R77W	False	False	False	False	False	P05165_76_W
P05165	PCCA	422	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	P423L	False	False	False	False	False	P05165_422_L
Q15049	MLC1	274	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	A275D	False	False	False	False	False	Q15049_274_D
Q5T440	IBA57	326	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	I327T	False	False	False	False	False	Q5T440_326_T
Q86WW8	COA5	8	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.08108108108108109	Cytochrome c oxidase assembly factor 5	P9L	True	False	False	True	True	Q86WW8_8_L
Q9H1K1	ISCU	6	F	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023952095808383235	Iron-sulfur cluster assembly enzyme ISCU (NifU-lik	F7G	True	False	False	False	True	Q9H1K1_6_G
Q9H1K1	ISCU	6	F	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023952095808383235	Iron-sulfur cluster assembly enzyme ISCU (NifU-lik	F7C	True	True	False	True	True	Q9H1K1_6_C
Q9H1K1	ISCU	11	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023952095808383235	Iron-sulfur cluster assembly enzyme ISCU (NifU-lik	A12V	True	False	False	False	True	Q9H1K1_11_V
Q9Y2Z9	COQ6	92	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	G93D	False	False	False	False	False	Q9Y2Z9_92_D
P35218	CA5A	249	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	E250G	False	False	False	False	False	P35218_249_G
O75879	GATB	135	F	L	1	ClinVar	criteria provided, single submitter	0.01436265709156194	Glutamyl-tRNA(Gln) amidotransferase subunit B, mit	F136L	False	False	False	False	False	O75879_135_L
Q9H0R6	QRSL1	132	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Glutamyl-tRNA(Gln) amidotransferase subunit A, mit	G133V	False	False	False	False	False	Q9H0R6_132_V
O43716	GATC	77	M	R	1	ClinVar	criteria provided, single submitter	0.014705882352941176	Glutamyl-tRNA(Gln) amidotransferase subunit C, mit	M78R	False	False	False	False	False	O43716_77_R
Q3ZCQ8	TIMM50	86	G	A	1	ClinVar	criteria provided, single submitter	0.0113314447592068	Mitochondrial import inner membrane translocase su	G87A	False	False	False	False	False	Q3ZCQ8_86_A
Q5T011	SZT2	165	Q	H	1	ClinVar	no assertion criteria provided	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	Q166H	False	False	False	False	False	Q5T011_165_H
P02545	LMNA	371	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E372D	False	False	False	False	False	P02545_371_D
P16389	KCNA2	373	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	T374A	False	False	False	False	False	P16389_373_A
P10589	NR2F1	96	H	D	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	H97D	False	False	False	True	False	P10589_96_D
P10589	NR2F1	134	R	C	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R135C	False	True	False	True	False	P10589_134_C
Q9UQD0	SCN8A	257	T	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	T258I	False	False	False	False	False	Q9UQD0_257_I
Q99250	SCN2A	0	M	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1L	True	False	False	False	True	Q99250_0_L
Q14721	KCNB1	333	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L334P	False	False	False	False	False	Q14721_333_P
Q15070	OXA1L	146	C	F	1	ClinVar	no assertion criteria provided	0.016091954022988506	Mitochondrial inner membrane protein OXA1L (OXA1Hs	C147F	False	False	True	True	False	Q15070_146_F
Q00577	PURA	201	L	P	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	L202P	False	False	False	False	False	Q00577_201_P
P12883	MYH7	923	E	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E924G	False	False	False	False	False	P12883_923_G
Q9Y2G1	MYRF	402	Q	R	1	ClinVar	no assertion criteria provided	0.016507384882710686	Myelin regulatory factor (EC 3.4.-.-) (Myelin gene	Q403R	False	False	False	False	False	Q9Y2G1_402_R
O14647	CHD2	899	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R900Q	False	False	False	False	False	O14647_899_Q
P08559	PDHA1	160	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y161C	False	True	False	True	False	P08559_160_C
P08559	PDHA1	174	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A175T	False	False	False	True	False	P08559_174_T
P10809	HSPD1	460	Q	E	1	ClinVar	no assertion criteria provided	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	Q461E	False	False	False	False	False	P10809_460_E
Q9UNE0	EDAR	88	R	C	1	ClinVar	criteria provided, single submitter	0.049107142857142856	Tumor necrosis factor receptor superfamily member 	R89C	False	True	False	True	False	Q9UNE0_88_C
O43526	KCNQ2	8	G	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G9D	True	False	False	False	True	O43526_8_D
Q9Y4W6	AFG3L2	467	R	C	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R468C	False	True	False	True	False	Q9Y4W6_467_C
O95140	MFN2	709	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L710P	False	False	False	False	False	O95140_709_P
O95140	MFN2	212	I	T	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	I213T	False	False	False	False	False	O95140_212_T
P68133	ACTA1	334	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P335L	False	False	False	False	False	P68133_334_L
P68133	ACTA1	267	F	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	F268S	False	False	False	False	False	P68133_267_S
O95140	MFN2	165	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A166V	False	False	False	False	False	O95140_165_V
O95140	MFN2	250	P	R	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	P251R	False	False	False	False	False	O95140_250_R
P16389	KCNA2	283	G	D	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	G284D	False	False	False	False	False	P16389_283_D
P68133	ACTA1	334	P	A	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P335A	False	False	False	False	False	P68133_334_A
P68133	ACTA1	255	R	C	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R256C	False	True	False	True	False	P68133_255_C
P35609	ACTN2	7	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	V8M	True	False	False	False	True	P35609_7_M
P49792	RANBP2	1125	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	R1126W	False	False	False	False	False	P49792_1125_W
P20929	NEB	7229	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A7230V	False	False	False	False	False	P20929_7229_V
P20929	NEB	3265	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V3266M	False	False	False	False	False	P20929_3265_M
P20929	NEB	2130	N	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N2131I	False	False	False	False	False	P20929_2130_I
P20929	NEB	8376	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8377Q	False	False	False	False	False	P20929_8376_Q
P35498	SCN1A	1822	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1823T	False	False	False	False	False	P35498_1822_T
P35498	SCN1A	982	V	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V983D	False	False	False	False	False	P35498_982_D
P35498	SCN1A	933	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M934V	False	False	False	False	False	P35498_933_V
P35498	SCN1A	784	M	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M785R	False	False	False	False	False	P35498_784_R
P35498	SCN1A	384	E	Q	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E385Q	False	False	False	False	False	P35498_384_Q
P35498	SCN1A	313	W	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W314C	False	True	False	True	False	P35498_313_C
P35498	SCN1A	1755	C	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1756Y	False	False	True	True	False	P35498_1755_Y
P35498	SCN1A	1740	C	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1741S	False	False	True	True	False	P35498_1740_S
P35498	SCN1A	1503	Q	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1504H	False	False	False	False	False	P35498_1503_H
P35498	SCN1A	1405	A	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1406S	False	False	False	False	False	P35498_1405_S
P35498	SCN1A	658	V	L	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V659L	False	False	False	False	False	P35498_658_L
P35498	SCN1A	140	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N141K	False	False	False	False	False	P35498_140_K
P35498	SCN1A	103	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A104D	False	False	False	False	False	P35498_103_D
P12111	COL6A3	3124	I	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I3125T	False	False	False	False	False	P12111_3124_T
P12111	COL6A3	1782	S	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S1783L	False	False	False	False	False	P12111_1782_L
P12111	COL6A3	137	A	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A138V	False	False	False	False	False	P12111_137_V
O95140	MFN2	239	F	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	F240V	False	False	False	False	False	O95140_239_V
O95140	MFN2	363	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R364P	False	False	False	False	False	O95140_363_P
O95140	MFN2	723	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L724P	False	False	False	False	False	O95140_723_P
P02545	LMNA	61	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R62C	False	True	False	True	False	P02545_61_C
P21912	SDHB	199	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	W200R	False	False	False	True	False	P21912_199_R
P68133	ACTA1	227	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E228Q	False	False	False	False	False	P68133_227_Q
P68133	ACTA1	139	A	G	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A140G	False	False	False	False	False	P68133_139_G
Q00839	HNRNPU	754	R	C	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	R755C	False	True	False	True	False	Q00839_754_C
Q00839	HNRNPU	146	D	N	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	D147N	False	False	False	False	False	Q00839_146_N
P20929	NEB	2896	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M2897T	False	False	False	False	False	P20929_2896_T
P20929	NEB	1724	F	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F1725S	False	False	False	False	False	P20929_1724_S
P20929	NEB	338	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A339T	False	False	False	False	False	P20929_338_T
P35498	SCN1A	333	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L334P	False	False	False	False	False	P35498_333_P
P35498	SCN1A	126	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	H127Y	False	False	False	False	False	P35498_126_Y
P20929	NEB	995	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I996T	False	False	False	False	False	P20929_995_T
Q99250	SCN2A	219	R	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R220G	False	False	False	False	False	Q99250_219_G
P35498	SCN1A	1900	V	G	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1901G	False	False	False	False	False	P35498_1900_G
P35498	SCN1A	1405	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1406T	False	False	False	False	False	P35498_1405_T
P35498	SCN1A	1352	V	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1353F	False	False	False	False	False	P35498_1352_F
P35498	SCN1A	998	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N999K	False	False	False	False	False	P35498_998_K
P35498	SCN1A	265	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L266P	False	False	False	False	False	P35498_265_P
P31040	SDHA	0	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	M1K	True	False	False	False	True	P31040_0_K
O60741	HCN1	447	N	S	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	N448S	False	False	False	False	False	O60741_447_S
O60741	HCN1	379	I	T	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	I380T	False	False	False	False	False	O60741_379_T
P12111	COL6A3	726	Y	C	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	Y727C	False	True	False	True	False	P12111_726_C
Q99715	COL12A1	37	E	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	E38A	True	False	False	False	True	Q99715_37_A
Q99715	COL12A1	1437	S	G	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S1438G	False	False	False	False	False	Q99715_1437_G
P15924	DSP	2595	I	T	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I2596T	False	False	False	False	False	P15924_2595_T
P12111	COL6A3	1741	R	W	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1742W	False	False	False	False	False	P12111_1741_W
Q9NZV8	KCND2	10	F	L	0	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	F11L	True	False	False	False	True	Q9NZV8_10_L
Q14315	FLNC	274	P	L	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P275L	False	False	False	False	False	Q14315_274_L
Q14315	FLNC	933	A	T	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A934T	False	False	False	False	False	Q14315_933_T
Q14315	FLNC	1030	P	Q	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P1031Q	False	False	False	False	False	Q14315_1030_Q
Q14315	FLNC	1587	A	P	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1588P	False	False	False	False	False	Q14315_1587_P
P61764	STXBP1	550	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R551H	False	False	False	False	False	P61764_550_H
Q13813	SPTAN1	1349	D	N	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	D1350N	False	False	False	False	False	Q13813_1349_N
Q00577	PURA	164	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G165S	False	False	False	False	False	Q00577_164_S
P23378	GLDC	526	S	T	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S527T	False	False	False	False	False	P23378_526_T
O75899	GABBR2	474	R	W	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R475W	False	False	False	False	False	O75899_474_W
Q05193	DNM1	616	K	R	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	K617R	False	False	False	False	False	Q05193_616_R
Q13813	SPTAN1	592	M	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M593T	False	False	False	False	False	Q13813_592_T
Q13813	SPTAN1	1060	S	G	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	S1061G	False	False	False	False	False	Q13813_1060_G
Q15652	JMJD1C	1602	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	I1603T	False	False	False	False	False	Q15652_1602_T
Q15652	JMJD1C	1522	I	F	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	I1523F	False	False	False	False	False	Q15652_1522_F
O75899	GABBR2	878	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I879V	False	False	False	False	False	O75899_878_V
O75899	GABBR2	223	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I224V	False	False	False	False	False	O75899_223_V
O14521	SDHD	138	L	R	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L139R	False	False	False	True	False	O14521_138_R
Q15652	JMJD1C	2131	K	I	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	K2132I	False	False	False	False	False	Q15652_2131_I
O60741	HCN1	680	P	S	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P681S	False	False	False	False	False	O60741_680_S
Q16363	LAMA4	224	A	P	0	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	A225P	False	False	False	False	False	Q16363_224_P
Q9UQD0	SCN8A	1562	I	V	0	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1563V	False	False	False	False	False	Q9UQD0_1562_V
Q9UQD0	SCN8A	1599	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1600I	False	False	False	False	False	Q9UQD0_1599_I
O95363	FARS2	279	N	T	0	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	N280T	False	False	False	False	False	O95363_279_T
Q99715	COL12A1	1984	N	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	N1985S	False	False	False	False	False	Q99715_1984_S
P07951	TPM2	154	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	A155T	False	False	False	False	False	P07951_154_T
O75899	GABBR2	925	R	C	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R926C	False	True	False	True	False	O75899_925_C
O75899	GABBR2	918	V	I	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	V919I	False	False	False	False	False	O75899_918_I
Q9NZV8	KCND2	511	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	P512S	False	False	False	False	False	Q9NZV8_511_S
Q9NZV8	KCND2	532	R	Q	0	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	R533Q	False	False	False	False	False	Q9NZV8_532_Q
P12883	MYH7	877	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V878L	False	False	False	False	False	P12883_877_L
P12883	MYH7	586	D	H	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D587H	False	False	False	False	False	P12883_586_H
Q9UQD0	SCN8A	138	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M139I	False	False	False	False	False	Q9UQD0_138_I
Q9UQD0	SCN8A	1412	K	E	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	K1413E	False	False	False	False	False	Q9UQD0_1412_E
Q15413	RYR3	1773	V	M	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	V1774M	False	False	False	False	False	Q15413_1773_M
O14647	CHD2	1104	T	M	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T1105M	False	False	False	False	False	O14647_1104_M
P12883	MYH7	952	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D953H	False	False	False	False	False	P12883_952_H
P12883	MYH7	600	L	F	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L601F	False	False	False	False	False	P12883_600_F
Q13224	GRIN2B	819	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G820E	False	False	False	False	False	Q13224_819_E
Q9UQD0	SCN8A	1465	N	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1466S	False	False	False	False	False	Q9UQD0_1465_S
Q13813	SPTAN1	51	D	N	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	D52N	False	False	False	False	False	Q13813_51_N
Q13813	SPTAN1	775	R	W	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R776W	False	False	False	False	False	Q13813_775_W
Q15413	RYR3	2455	R	H	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R2456H	False	False	False	False	False	Q15413_2455_H
P12883	MYH7	711	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R712G	False	False	False	False	False	P12883_711_G
P12883	MYH7	381	D	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D382G	False	False	False	False	False	P12883_381_G
Q8NCM2	KCNH5	615	I	N	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	I616N	False	False	False	False	False	Q8NCM2_615_N
C9JR72	KBTBD13	32	R	P	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	R33P	True	False	False	True	True	C9JR72_32_P
Q15413	RYR3	2306	Q	R	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	Q2307R	False	False	False	False	False	Q15413_2306_R
Q15413	RYR3	4154	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	D4155N	False	False	False	False	False	Q15413_4154_N
O14647	CHD2	400	H	Q	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	H401Q	False	False	False	False	False	O14647_400_Q
O14647	CHD2	1341	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1342Q	False	False	False	False	False	O14647_1341_Q
A2IDD5	CCDC78	270	R	Q	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R271Q	False	False	False	False	False	A2IDD5_270_Q
Q9NZC7	WWOX	340	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	L341M	False	False	False	False	False	Q9NZC7_340_M
P19429	TNNI3	134	L	P	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	L135P	False	False	False	False	False	P19429_134_P
Q14721	KCNB1	775	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K776R	False	False	False	False	False	Q14721_775_R
Q14721	KCNB1	757	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A758T	False	False	False	False	False	Q14721_757_T
Q14721	KCNB1	464	V	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V465I	False	False	False	False	False	Q14721_464_I
P57059	SIK1	456	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	E457A	False	False	False	False	False	P57059_456_A
P12110	COL6A2	279	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G280D	False	False	False	False	False	P12110_279_D
Q13224	GRIN2B	951	P	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P952S	False	False	False	False	False	Q13224_951_S
Q13224	GRIN2B	913	V	A	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V914A	False	False	False	False	False	Q13224_913_A
Q8TAB3	PCDH19	30	E	K	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E31K	True	False	False	False	True	Q8TAB3_30_K
O76039	CDKL5	194	W	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	W195G	False	False	False	False	False	O76039_194_G
O76039	CDKL5	212	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G213E	False	False	False	False	False	O76039_212_E
P11532	DMD	2178	S	G	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	S2179G	False	False	False	False	False	P11532_2178_G
P11532	DMD	1400	V	M	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	V1401M	False	False	False	False	False	P11532_1400_M
P49327	FASN	1805	D	G	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	D1806G	False	False	False	False	False	P49327_1805_G
Q14721	KCNB1	701	A	E	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A702E	False	False	False	False	False	Q14721_701_E
O00555	CACNA1A	1686	S	F	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S1687F	False	False	False	False	False	O00555_1686_F
O43526	KCNQ2	309	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G310S	False	False	False	False	False	O43526_309_S
O43526	KCNQ2	257	N	K	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	N258K	False	False	False	False	False	O43526_257_K
Q05639	EEF1A2	287	E	G	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	E288G	False	False	False	False	False	Q05639_287_G
P21817	RYR1	447	I	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	I448F	False	False	False	False	False	P21817_447_F
P21817	RYR1	4896	G	D	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G4897D	False	False	False	False	False	P21817_4896_D
P12109	COL6A1	198	R	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R199H	False	False	False	False	False	P12109_198_H
Q8TAB3	PCDH19	80	L	R	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	L81R	False	False	False	False	False	Q8TAB3_80_R
O43526	KCNQ2	270	G	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G271D	False	False	False	False	False	O43526_270_D
O43526	KCNQ2	262	T	I	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T263I	False	False	False	False	False	O43526_262_I
Q13496	MTM1	401	G	R	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G402R	False	False	False	False	False	Q13496_401_R
O43426	SYNJ1	309	M	I	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	M310I	False	False	False	False	False	O43426_309_I
P57059	SIK1	702	T	M	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	T703M	False	False	False	False	False	P57059_702_M
P09471	GNAO1	95	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G96S	False	False	False	False	False	P09471_95_S
A2IDD5	CCDC78	60	I	M	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	I61M	False	False	False	False	False	A2IDD5_60_M
O00555	CACNA1A	1111	M	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	M1112L	False	False	False	False	False	O00555_1111_L
Q14721	KCNB1	783	P	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P784L	False	False	False	False	False	Q14721_783_L
Q14721	KCNB1	705	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A706T	False	False	False	False	False	Q14721_705_T
O43526	KCNQ2	213	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R214Q	False	False	False	False	False	O43526_213_Q
O43426	SYNJ1	13	D	G	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	D14G	True	False	False	False	True	O43426_13_G
P12109	COL6A1	262	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G263V	False	False	False	False	False	P12109_262_V
P12109	COL6A1	271	G	R	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G272R	False	False	False	False	False	P12109_271_R
Q9NP73	ALG13	1134	Q	R	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Q1135R	False	False	False	False	False	Q9NP73_1134_R
O76039	CDKL5	428	P	L	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P429L	False	False	False	False	False	O76039_428_L
P11532	DMD	3031	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	E3032K	False	False	False	False	False	P11532_3031_K
P11532	DMD	564	T	I	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	T565I	False	False	False	False	False	P11532_564_I
P38606	ATP6V1A	374	P	T	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	P375T	False	False	False	False	False	P38606_374_T
O14529	CUX2	589	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006056527590847914	Homeobox protein cut-like 2 (Homeobox protein cux-	E590K	False	False	False	False	False	O14529_589_K
P50461	CSRP3	139	W	C	1	ClinVar	no assertion criteria provided	0.08247422680412371	Cysteine and glycine-rich protein 3 (Cardiac LIM p	W140C	False	True	False	True	False	P50461_139_C
P50461	CSRP3	15	T	S	1	ClinVar	no assertion criteria provided	0.08247422680412371	Cysteine and glycine-rich protein 3 (Cardiac LIM p	T16S	True	False	False	True	True	P50461_15_S
O95140	MFN2	236	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	E237D	False	False	False	False	False	O95140_236_D
P50993	ATP1A2	262	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	T263M	False	False	False	False	False	P50993_262_M
Q6PJG6	BRAT1	599	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	L600F	False	False	False	True	False	Q6PJG6_599_F
Q9P2R7	SUCLA2	102	A	D	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	A103D	False	False	False	False	False	Q9P2R7_102_D
O14647	CHD2	349	Q	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Q350L	False	False	False	False	False	O14647_349_L
Q6UB99	ANKRD11;TRAPPC2L	45	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012392039053698836	Ankyrin repeat domain-containing protein 11 (Ankyr	D46N	True	False	False	False	True	Q6UB99_45_N
O00555	CACNA1A	146	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E147K	False	False	False	False	False	O00555_146_K
Q9UM47	NOTCH3	250	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C251R	False	False	True	True	False	Q9UM47_250_R
Q9UM47	NOTCH3	193	C	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C194S	False	False	True	True	False	Q9UM47_193_S
Q9UM47	NOTCH3	116	C	W	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C117W	False	False	True	True	False	Q9UM47_116_W
Q9UM47	NOTCH3	48	C	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C49G	True	False	True	True	True	Q9UM47_48_G
O43426	SYNJ1	294	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	K295R	False	False	False	False	False	O43426_294_R
P57059	SIK1	614	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A615V	False	False	False	False	False	P57059_614_V
P57059	SIK1	14	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G15S	True	False	False	False	True	P57059_14_S
O95140	MFN2	111	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V112M	False	False	False	False	False	O95140_111_M
O43181	NDUFS4	118	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	NADH dehydrogenase [ubiquinone] iron-sulfur protei	D119H	False	False	False	False	False	O43181_118_H
P09471	GNAO1	39	G	V	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G40V	True	False	False	False	True	P09471_39_V
O15273	TCAP	0	M	V	1	ClinVar	criteria provided, single submitter	0.029940119760479042	Telethonin (Titin cap protein)	M1V	True	False	False	False	True	O15273_0_V
O95363	FARS2	155	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	T156M	False	False	False	False	False	O95363_155_M
O95363	FARS2	176	V	D	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	V177D	False	False	False	False	False	O95363_176_D
O95363	FARS2	308	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	G309S	False	False	False	False	False	O95363_308_S
Q5T011	SZT2	1083	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	P1084L	False	False	False	False	False	Q5T011_1083_L
Q5T011	SZT2	3260	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	R3261Q	False	False	False	False	False	Q5T011_3260_Q
P35498	SCN1A	1461	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1462H	False	False	False	False	False	P35498_1461_H
P35498	SCN1A	1055	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1056D	False	False	False	False	False	P35498_1055_D
P35498	SCN1A	878	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L879R	False	False	False	False	False	P35498_878_R
P35498	SCN1A	217	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F218L	False	False	False	False	False	P35498_217_L
O60741	HCN1	750	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P751A	False	False	False	False	False	O60741_750_A
Q05193	DNM1	74	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	N75S	False	False	False	False	False	Q05193_74_S
O14647	CHD2	1073	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1074Q	False	False	False	False	False	O14647_1073_Q
Q6UB99	ANKRD11;TRAPPC2L	1877	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012392039053698836	Ankyrin repeat domain-containing protein 11 (Ankyr	S1878P	False	False	False	False	False	Q6UB99_1877_P
P57059	SIK1	686	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A687T	False	False	False	False	False	P57059_686_T
P57059	SIK1	433	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	V434L	False	False	False	False	False	P57059_433_L
P57059	SIK1	291	F	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	F292Y	False	False	False	False	False	P57059_291_Y
P57059	SIK1	1	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	V2I	True	False	False	False	True	P57059_1_I
O43526	KCNQ2	194	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S195F	False	False	False	False	False	O43526_194_F
P57059	SIK1	682	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P683L	False	False	False	False	False	P57059_682_L
P57059	SIK1	668	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A669T	False	False	False	False	False	P57059_668_T
O76039	CDKL5	526	P	S	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P527S	False	False	False	False	False	O76039_526_S
Q01968	OCRL	124	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0244173140954495	Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.	E125D	False	False	False	False	False	Q01968_124_D
Q96QS3	ARX	415	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	A416G	False	False	False	False	False	Q96QS3_415_G
Q9BUK6	MSTO1	278	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028070175438596492	Protein misato homolog 1	R279H	False	False	False	False	False	Q9BUK6_278_H
P21817	RYR1	5005	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G5006S	False	False	False	False	False	P21817_5005_S
Q9HAB8	PPCS	232	E	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Phosphopantothenate--cysteine ligase (EC 6.3.2.51)	E233V	False	False	False	False	False	Q9HAB8_232_V
Q9HAB8	PPCS	179	A	P	1	ClinVar	no assertion criteria provided	0.0	Phosphopantothenate--cysteine ligase (EC 6.3.2.51)	A180P	False	False	False	False	False	Q9HAB8_179_P
Q14CZ8	HEPACAM	119	Y	C	1	ClinVar	criteria provided, single submitter	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	Y120C	False	True	False	True	False	Q14CZ8_119_C
O60701	UGDH	316	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	R317Q	False	False	False	False	False	O60701_316_Q
P55072	VCP	92	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R93C	False	True	False	True	False	P55072_92_C
Q16854	DGUOK	164	E	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	E165V	False	False	False	False	False	Q16854_164_V
O60313	OPA1	79	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	Y80C	False	True	False	True	False	O60313_79_C
P11166	SLC2A1	16	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G17R	True	False	False	False	True	P11166_16_R
P12110	COL6A2	288	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G289V	False	False	False	False	False	P12110_288_V
O15399	GRIN2D	680	M	I	1	ClinVar	no assertion criteria provided	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	M681I	False	False	False	False	False	O15399_680_I
O15399	GRIN2D	693	S	R	1	ClinVar	no assertion criteria provided	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	S694R	False	False	False	False	False	O15399_693_R
O15399	GRIN2D	448	D	N	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	D449N	False	False	False	False	False	O15399_448_N
P36776	LONP1	436	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V437I	False	False	False	False	False	P36776_436_I
Q15878	CACNA1E	700	I	V	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	I701V	False	False	False	False	False	Q15878_700_V
P35749	MYH11	126	P	S	1	ClinVar	no assertion criteria provided	0.007606490872210953	Myosin-11 (Myosin heavy chain 11) (Myosin heavy ch	P127S	False	False	False	False	False	P35749_126_S
Q9C0D0	PHACTR1	499	L	P	1	ClinVar	criteria provided, single submitter	0.013793103448275862	Phosphatase and actin regulator 1	L500P	False	False	False	False	False	Q9C0D0_499_P
Q9C0D0	PHACTR1	478	N	I	1	ClinVar	no assertion criteria provided	0.013793103448275862	Phosphatase and actin regulator 1	N479I	False	False	False	False	False	Q9C0D0_478_I
Q9Y223	GNE	148	A	S	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	A149S	False	False	False	False	False	Q9Y223_148_S
P21817	RYR1	3210	N	K	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	N3211K	False	False	False	False	False	P21817_3210_K
P21817	RYR1	4803	H	R	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	H4804R	False	False	False	False	False	P21817_4803_R
P68133	ACTA1	176	I	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I177V	False	False	False	False	False	P68133_176_V
P07951	TPM2	89	R	H	1	ClinVar	criteria provided, single submitter	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	R90H	False	False	False	False	False	P07951_89_H
P02144	MB	97	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006493506493506494	Myoglobin (Nitrite reductase MB) (EC 1.7.-.-) (Pse	H98Y	False	False	False	False	False	P02144_97_Y
Q9NR50	EIF2B3	29	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	V30A	True	False	False	False	True	Q9NR50_29_A
O00499	BIN1	233	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	R234C	False	True	False	True	False	O00499_233_C
O00499	BIN1	144	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	R145C	False	True	False	True	False	O00499_144_C
P17661	DES	347	Q	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	Q348P	False	False	False	False	False	P17661_347_P
O95571	ETHE1	26	Q	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	Q27K	True	False	False	True	True	O95571_26_K
Q9BYZ6	RHOBTB2	484	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	R485C	False	True	False	True	False	Q9BYZ6_484_C
Q8WZ42	TTN	5216	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	S5217N	False	False	False	False	False	Q8WZ42_5216_N
Q5T160	RARS2	468	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	R469H	False	False	False	False	False	Q5T160_468_H
Q9Y606	PUS1	404	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	T405M	False	False	False	False	False	Q9Y606_404_M
P11532	DMD	1457	F	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	F1458Y	False	False	False	False	False	P11532_1457_Y
O94925	GLS	271	R	K	1	ClinVar	criteria provided, single submitter	0.02242152466367713	Glutaminase kidney isoform, mitochondrial (GLS) (E	R272K	False	False	False	False	False	O94925_271_K
O00429	DNM1L	690	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	Y691C	False	True	False	True	False	O00429_690_C
Q9UL33	TRAPPC2L	36	D	Y	1	ClinVar	no assertion criteria provided	0.02142857142857143	Trafficking protein particle complex subunit 2-lik	D37Y	True	False	False	False	True	Q9UL33_36_Y
P12883	MYH7	654	L	M	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L655M	False	False	False	False	False	P12883_654_M
Q9UGJ0	PRKAG2	340	L	S	1	ClinVar	criteria provided, single submitter	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	L341S	False	False	False	False	False	Q9UGJ0_340_S
P12883	MYH7	858	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L859P	False	False	False	False	False	P12883_858_P
P12883	MYH7	466	I	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I467N	False	False	False	False	False	P12883_466_N
P12883	MYH7	441	R	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R442L	False	False	False	False	False	P12883_441_L
P12883	MYH7	319	V	E	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V320E	False	False	False	False	False	P12883_319_E
P12883	MYH7	317	T	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T318P	False	False	False	False	False	P12883_317_P
P54098	POLG	1213	Q	E	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Q1214E	False	False	False	False	False	P54098_1213_E
P54098	POLG	1203	T	S	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	T1204S	False	False	False	False	False	P54098_1203_S
P54098	POLG	1187	C	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	C1188R	False	False	True	True	False	P54098_1187_R
P54098	POLG	1112	L	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L1113P	False	False	False	False	False	P54098_1112_P
P54098	POLG	1080	R	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R1081P	False	False	False	False	False	P54098_1080_P
P54098	POLG	952	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R953H	False	False	False	False	False	P54098_952_H
P54098	POLG	950	Y	N	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Y951N	False	False	False	False	False	P54098_950_N
P54098	POLG	942	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R943H	False	False	False	False	False	P54098_942_H
P54098	POLG	942	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R943C	False	True	False	True	False	P54098_942_C
P54098	POLG	899	A	T	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A900T	False	False	False	False	False	P54098_899_T
P54098	POLG	889	D	A	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	D890A	False	False	False	False	False	P54098_889_A
P54098	POLG	887	G	S	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G888S	False	False	False	False	False	P54098_887_S
P54098	POLG	862	S	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S863R	False	False	False	False	False	P54098_862_R
P54098	POLG	851	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R852H	False	False	False	False	False	P54098_851_H
P54098	POLG	850	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	T851A	False	False	False	False	False	P54098_850_A
P54098	POLG	753	H	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	H754Q	False	False	False	False	False	P54098_753_Q
P54098	POLG	596	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R597G	False	False	False	False	False	P54098_596_G
P54098	POLG	573	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R574Q	False	False	False	False	False	P54098_573_Q
P54098	POLG	429	M	T	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	M430T	False	False	False	False	False	P54098_429_T
P54098	POLG	266	V	L	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	V267L	False	False	False	False	False	P54098_266_L
P54098	POLG	156	L	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L157P	False	False	False	False	False	P54098_156_P
P54098	POLG	82	L	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L83P	False	False	False	False	False	P54098_82_P
P54098	POLG	27	S	C	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S28C	True	True	False	True	True	P54098_27_C
P54098	POLG	10	G	S	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G11S	True	False	False	False	True	P54098_10_S
P47985	UQCRFS1	13	V	D	1	ClinVar	no assertion criteria provided	0.01824817518248175	Cytochrome b-c1 complex subunit Rieske, mitochondr	V14D	True	False	False	False	True	P47985_13_D
Q99250	SCN2A	1743	G	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1744E	False	False	False	False	False	Q99250_1743_E
Q99250	SCN2A	1768	N	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N1769S	False	False	False	False	False	Q99250_1768_S
O14647	CHD2	902	R	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R903G	False	False	False	False	False	O14647_902_G
Q05639	EEF1A2	273	P	L	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	P274L	False	False	False	False	False	Q05639_273_L
O76039	CDKL5	131	V	F	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V132F	False	False	False	False	False	O76039_131_F
Q5JTZ9	AARS2	675	Q	P	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	Q676P	False	False	False	False	False	Q5JTZ9_675_P
Q9P2R7	SUCLA2	306	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	A307V	False	False	False	False	False	Q9P2R7_306_V
Q6P4F2	FDX2	140	P	L	1	ClinVar	criteria provided, single submitter	0.02185792349726776	Ferredoxin-2, mitochondrial (Adrenodoxin-like prot	P141L	False	False	False	False	False	Q6P4F2_140_L
P16389	KCNA2	406	P	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	P407A	False	False	False	False	False	P16389_406_A
O95140	MFN2	230	S	T	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S231T	False	False	False	False	False	O95140_230_T
Q9BTW9	TBCD	76	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	H77R	False	False	False	False	False	Q9BTW9_76_R
O00555	CACNA1A	271	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	C272R	False	False	True	True	False	O00555_271_R
Q8TAB3	PCDH19	560	P	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P561A	False	False	False	False	False	Q8TAB3_560_A
Q9UQD0	SCN8A	1217	E	K	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	E1218K	False	False	False	False	False	Q9UQD0_1217_K
Q15784	NEUROD2	129	E	Q	1	ClinVar	no assertion criteria provided	0.01832460732984293	Neurogenic differentiation factor 2 (NeuroD2) (Cla	E130Q	False	False	False	False	False	Q15784_129_Q
Q15784	NEUROD2	133	M	T	1	ClinVar	no assertion criteria provided	0.01832460732984293	Neurogenic differentiation factor 2 (NeuroD2) (Cla	M134T	False	False	False	False	False	Q15784_133_T
O43567	RNF13	310	L	S	1	ClinVar	no assertion criteria provided	0.026246719160104987	E3 ubiquitin-protein ligase RNF13 (EC 2.3.2.27) (R	L311S	False	False	False	False	False	O43567_310_S
O43567	RNF13	311	L	P	1	ClinVar	no assertion criteria provided	0.026246719160104987	E3 ubiquitin-protein ligase RNF13 (EC 2.3.2.27) (R	L312P	False	False	False	False	False	O43567_311_P
Q9Y276	BCS1L	89	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R90C	False	True	False	True	False	Q9Y276_89_C
Q8WWT9	SLC13A3	253	A	D	1	ClinVar	no assertion criteria provided	0.011627906976744186	Na(+)/dicarboxylate cotransporter 3 (NaDC-3) (hNaD	A254D	False	False	False	False	False	Q8WWT9_253_D
Q8WWT9	SLC13A3	547	G	S	1	ClinVar	no assertion criteria provided	0.011627906976744186	Na(+)/dicarboxylate cotransporter 3 (NaDC-3) (hNaD	G548S	False	False	False	False	False	Q8WWT9_547_S
Q13813	SPTAN1	105	G	R	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	G106R	False	False	False	False	False	Q13813_105_R
Q96BR5	COA7	148	S	I	1	ClinVar	no assertion criteria provided	0.05627705627705628	Cytochrome c oxidase assembly factor 7 (Beta-lacta	S149I	False	False	False	True	False	Q96BR5_148_I
Q96BR5	COA7	5	D	G	1	ClinVar	no assertion criteria provided	0.05627705627705628	Cytochrome c oxidase assembly factor 7 (Beta-lacta	D6G	True	False	False	True	True	Q96BR5_5_G
Q8TAB3	PCDH19	235	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P236L	False	False	False	False	False	Q8TAB3_235_L
Q9H936	SLC25A22	272	R	K	1	ClinVar	criteria provided, single submitter	0.02476780185758514	Mitochondrial glutamate carrier 1 (GC-1) (Glutamat	R273K	False	False	False	False	False	Q9H936_272_K
P39210	MPV17	40	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	R41Q	True	False	False	False	True	P39210_40_Q
P28331	NDUFS1	281	N	S	1	ClinVar	no assertion criteria provided	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	N282S	False	False	False	False	False	P28331_281_S
Q8WZ42	TTN	4246	E	G	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	E4247G	False	False	False	False	False	Q8WZ42_4246_G
P68032	ACTC1	246	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	G247D	False	False	False	False	False	P68032_246_D
Q969Q6	PPP2R3C	349	F	S	1	ClinVar	criteria provided, single submitter	0.011037527593818985	Serine/threonine-protein phosphatase 2A regulatory	F350S	False	False	False	False	False	Q969Q6_349_S
Q969Q6	PPP2R3C	192	L	S	1	ClinVar	criteria provided, single submitter	0.011037527593818985	Serine/threonine-protein phosphatase 2A regulatory	L193S	False	False	False	False	False	Q969Q6_192_S
Q969Q6	PPP2R3C	102	L	P	1	ClinVar	criteria provided, single submitter	0.011037527593818985	Serine/threonine-protein phosphatase 2A regulatory	L103P	False	False	False	False	False	Q969Q6_102_P
P08559	PDHA1	74	E	D	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E75D	False	False	False	True	False	P08559_74_D
P11166	SLC2A1	129	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G130S	False	False	False	False	False	P11166_129_S
Q14896	MYBPC3	958	T	K	0	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	T959K	False	False	False	False	False	Q14896_958_K
P55084	HADHB	293	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	P294R	False	False	False	False	False	P55084_293_R
P55084	HADHB	382	S	L	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	S383L	False	False	False	False	False	P55084_382_L
P53597	SUCLG1	13	M	T	1	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	M14T	True	False	False	False	True	P53597_13_T
Q96RR1	TWNK	356	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R357P	False	False	False	False	False	Q96RR1_356_P
P05165	PCCA	76	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R77Q	False	False	False	False	False	P05165_76_Q
Q9UM47	NOTCH3	74	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R75P	False	False	False	True	False	Q9UM47_74_P
O95571	ETHE1	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	M1T	True	False	False	True	True	O95571_0_T
Q96I59	NARS2	380	N	S	1	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	N381S	False	False	False	False	False	Q96I59_380_S
Q96I59	NARS2	235	F	C	1	ClinVar	no assertion criteria provided	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	F236C	False	True	False	True	False	Q96I59_235_C
Q96I59	NARS2	394	L	R	1	ClinVar	no assertion criteria provided	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	L395R	False	False	False	False	False	Q96I59_394_R
Q5T160	RARS2	282	L	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	L283Q	False	False	False	False	False	Q5T160_282_Q
Q13496	MTM1	197	Y	S	1	ClinVar	no assertion criteria provided	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	Y198S	False	False	False	False	False	Q13496_197_S
Q14721	KCNB1	415	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	F416L	False	False	False	False	False	Q14721_415_L
Q14721	KCNB1	400	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G401R	False	False	False	False	False	Q14721_400_R
Q14721	KCNB1	393	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G394R	False	False	False	False	False	Q14721_393_R
Q14721	KCNB1	381	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	D382N	False	False	False	False	False	Q14721_381_N
Q14721	KCNB1	377	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V378L	False	False	False	False	False	Q14721_377_L
Q14721	KCNB1	376	T	N	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T377N	False	False	False	False	False	Q14721_376_N
Q14721	KCNB1	348	V	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V349F	False	False	False	False	False	Q14721_348_F
Q14721	KCNB1	322	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T323I	False	False	False	False	False	Q14721_322_I
Q14721	KCNB1	209	T	R	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T210R	False	False	False	False	False	Q14721_209_R
Q14721	KCNB1	42	E	G	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	E43G	True	False	False	False	True	Q14721_42_G
P02545	LMNA	242	D	Y	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	D243Y	False	False	False	False	False	P02545_242_Y
P35658	NUP214	386	P	S	1	ClinVar	criteria provided, single submitter	0.006220095693779904	Nuclear pore complex protein Nup214 (214 kDa nucle	P387S	False	False	False	False	False	P35658_386_S
Q9NY47	CACNA2D2	592	R	P	1	ClinVar	no assertion criteria provided	0.018260869565217393	Voltage-dependent calcium channel subunit alpha-2/	R593P	False	False	False	False	False	Q9NY47_592_P
P12235	SLC25A4	79	R	G	1	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	R80G	False	False	False	False	False	P12235_79_G
O94805	ACTL6B	348	G	S	1	ClinVar	criteria provided, single submitter	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	G349S	False	False	False	False	False	O94805_348_S
O94805	ACTL6B	205	L	P	1	ClinVar	criteria provided, single submitter	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	L206P	False	False	False	False	False	O94805_205_P
O60741	HCN1	390	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G391S	False	False	False	False	False	O60741_390_S
P12883	MYH7	248	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R249L	False	False	False	False	False	P12883_248_L
Q8TB37	NUBPL	241	F	L	1	ClinVar	criteria provided, single submitter	0.012539184952978056	Iron-sulfur cluster transfer protein NUBPL (IND1 h	F242L	False	False	False	False	False	Q8TB37_241_L
Q14896	MYBPC3	857	S	R	1	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	S858R	False	False	False	False	False	Q14896_857_R
O00764	PDXK	227	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01282051282051282	Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)	A228T	False	False	False	False	False	O00764_227_T
O00764	PDXK	219	R	Q	1	ClinVar	no assertion criteria provided	0.01282051282051282	Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)	R220Q	False	False	False	False	False	O00764_219_Q
Q14315	FLNC	1936	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	I1937N	False	False	False	False	False	Q14315_1936_N
P12883	MYH7	659	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T660N	False	False	False	False	False	P12883_659_N
P35555	FBN1	2606	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.12574016022291884	Fibrillin-1 [Cleaved into: Asprosin]	D2607N	False	False	False	True	False	P35555_2606_N
P09651	HNRNPA1	339	P	A	1	ClinVar	criteria provided, single submitter	0.005376344086021506	Heterogeneous nuclear ribonucleoprotein A1 (hnRNP 	P340A	False	False	False	False	False	P09651_339_A
O43526	KCNQ2	359	W	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W360C	False	True	False	True	False	O43526_359_C
P08559	PDHA1	249	P	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P250L	False	False	False	True	False	P08559_249_L
O95140	MFN2	91	L	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L92P	False	False	False	False	False	O95140_91_P
O95140	MFN2	93	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R94G	False	False	False	False	False	O95140_93_G
O95140	MFN2	103	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R104Q	False	False	False	False	False	O95140_103_Q
O95140	MFN2	127	H	R	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H128R	False	False	False	False	False	O95140_127_R
O95140	MFN2	131	C	Y	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	C132Y	False	False	True	True	False	O95140_131_Y
O95140	MFN2	201	G	A	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	G202A	False	False	False	False	False	O95140_201_A
O95140	MFN2	222	F	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	F223L	False	False	False	False	False	O95140_222_L
O95140	MFN2	230	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S231F	False	False	False	False	False	O95140_230_F
O95140	MFN2	247	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L248V	False	False	False	False	False	O95140_247_V
O95140	MFN2	250	P	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	P251L	False	False	False	False	False	O95140_250_L
O95140	MFN2	258	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R259L	False	False	False	False	False	O95140_258_L
O95140	MFN2	360	H	Y	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H361Y	False	False	False	False	False	O95140_360_Y
O95140	MFN2	375	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M376R	False	False	False	False	False	O95140_375_R
O95140	MFN2	706	R	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R707P	False	False	False	False	False	O95140_706_P
O95140	MFN2	737	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A738V	False	False	False	False	False	O95140_737_V
P05166	PCCB	121	F	S	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	F122S	False	False	False	False	False	P05166_121_S
P05166	PCCB	136	H	R	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	H137R	False	False	False	False	False	P05166_136_R
P05166	PCCB	234	T	P	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	T235P	False	False	False	False	False	P05166_234_P
P05166	PCCB	244	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G245S	False	False	False	False	False	P05166_244_S
P05166	PCCB	266	A	D	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	A267D	False	False	False	False	False	P05166_266_D
P05166	PCCB	411	G	S	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G412S	False	False	False	False	False	P05166_411_S
P05166	PCCB	446	L	F	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	L447F	False	False	False	False	False	P05166_446_F
P05165	PCCA	0	M	K	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	M1K	True	False	False	False	True	P05165_0_K
P05165	PCCA	174	G	D	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G175D	False	False	False	False	False	P05165_174_D
P05165	PCCA	227	G	V	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G228V	False	False	False	False	False	P05165_227_V
P05165	PCCA	267	R	L	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R268L	False	False	False	False	False	P05165_267_L
P05165	PCCA	290	S	L	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	S291L	False	False	False	False	False	P05165_290_L
P05165	PCCA	355	V	L	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	V356L	False	False	False	False	False	P05165_355_L
P05165	PCCA	692	M	L	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	M693L	False	False	False	False	False	P05165_692_L
O15091	PRORP	444	R	Q	1	ClinVar	no assertion criteria provided	0.022298456260720412	Mitochondrial ribonuclease P catalytic subunit (EC	R445Q	False	False	False	False	False	O15091_444_Q
Q02221	COX6A2	38	S	R	1	ClinVar	criteria provided, single submitter	0.010309278350515464	Cytochrome c oxidase subunit 6A2, mitochondrial (C	S39R	True	False	False	False	True	Q02221_38_R
Q9BU61	NDUFAF3	164	A	V	1	ClinVar	criteria provided, single submitter	0.021739130434782608	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A165V	False	False	False	False	False	Q9BU61_164_V
Q5U5X0	LYRM7	71	Q	E	1	ClinVar	criteria provided, single submitter	0.009615384615384616	Complex III assembly factor LYRM7 (LYR motif-conta	Q72E	False	False	False	False	False	Q5U5X0_71_E
Q96RR1	TWNK	480	L	V	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	L481V	False	False	False	False	False	Q96RR1_480_V
Q9NSE4	IARS2	873	G	R	1	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	G874R	False	False	False	False	False	Q9NSE4_873_R
Q9NSE4	IARS2	226	F	S	1	ClinVar	no assertion criteria provided	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	F227S	False	False	False	False	False	Q9NSE4_226_S
Q9NSE4	IARS2	816	R	H	1	ClinVar	no assertion criteria provided	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	R817H	False	False	False	False	False	Q9NSE4_816_H
Q9NSE4	IARS2	908	P	S	1	ClinVar	no assertion criteria provided	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	P909S	False	False	False	False	False	Q9NSE4_908_S
Q9NSE4	IARS2	760	H	R	1	ClinVar	no assertion criteria provided	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	H761R	False	False	False	False	False	Q9NSE4_760_R
O00555	CACNA1A	1665	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1666P	False	False	False	False	False	O00555_1665_P
Q9NP81	SARS2	351	E	A	1	ClinVar	criteria provided, single submitter	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	E352A	False	False	False	False	False	Q9NP81_351_A
Q9Y3A0	COQ4	123	G	V	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	G124V	False	False	False	False	False	Q9Y3A0_123_V
P16389	KCNA2	11	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	A12V	True	False	False	False	True	P16389_11_V
O95140	MFN2	87	I	F	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	I88F	False	False	False	False	False	O95140_87_F
O95140	MFN2	164	H	Q	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H165Q	False	False	False	False	False	O95140_164_Q
O95140	MFN2	216	C	F	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	C217F	False	False	True	True	False	O95140_216_F
O95140	MFN2	218	D	G	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	D219G	False	False	False	False	False	O95140_218_G
O95140	MFN2	487	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	N488S	False	False	False	False	False	O95140_487_S
P06753	TPM3	90	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R91C	False	True	False	True	False	P06753_90_C
Q99643	SDHC	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	M1L	True	False	False	False	True	Q99643_0_L
Q99643	SDHC	71	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	R72C	False	True	False	True	False	Q99643_71_C
P21912	SDHB	137	D	G	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	D138G	False	False	False	True	False	P21912_137_G
P45379	TNNT2	88	I	F	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	I89F	False	False	False	False	False	P45379_88_F
P68133	ACTA1	374	K	E	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	K375E	False	False	False	False	False	P68133_374_E
P68133	ACTA1	273	A	E	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A274E	False	False	False	False	False	P68133_273_E
P68133	ACTA1	228	M	L	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M229L	False	False	False	False	False	P68133_228_L
P68133	ACTA1	205	A	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A206V	False	False	False	False	False	P68133_205_V
P68133	ACTA1	185	D	G	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D186G	False	False	False	False	False	P68133_185_G
P68133	ACTA1	94	E	K	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E95K	False	False	False	False	False	P68133_94_K
P68133	ACTA1	12	D	N	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D13N	True	False	False	False	True	P68133_12_N
P35609	ACTN2	88	R	Q	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	R89Q	False	False	False	False	False	P35609_88_Q
Q00839	HNRNPU	463	K	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K464R	False	False	False	False	False	Q00839_463_R
Q00839	HNRNPU	226	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A227V	False	False	False	False	False	Q00839_226_V
P11166	SLC2A1	421	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	F422L	False	False	False	False	False	P11166_421_L
P11166	SLC2A1	33	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	N34S	True	False	False	False	True	P11166_33_S
P20929	NEB	8394	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8395Q	False	False	False	False	False	P20929_8394_Q
P20929	NEB	7554	H	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H7555Y	False	False	False	False	False	P20929_7554_Y
P20929	NEB	6965	R	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R6966H	False	False	False	False	False	P20929_6965_H
P20929	NEB	5830	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V5831M	False	False	False	False	False	P20929_5830_M
P20929	NEB	5704	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S5705N	False	False	False	False	False	P20929_5704_N
P20929	NEB	5651	I	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I5652L	False	False	False	False	False	P20929_5651_L
P20929	NEB	1860	G	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G1861R	False	False	False	False	False	P20929_1860_R
P20929	NEB	1493	Q	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q1494R	False	False	False	False	False	P20929_1493_R
P20929	NEB	1401	N	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N1402D	False	False	False	False	False	P20929_1401_D
P20929	NEB	509	V	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V510F	False	False	False	False	False	P20929_509_F
P20929	NEB	330	P	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P331R	False	False	False	False	False	P20929_330_R
P20929	NEB	163	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S164L	False	False	False	False	False	P20929_163_L
Q99250	SCN2A	190	W	C	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	W191C	False	True	False	True	False	Q99250_190_C
Q99250	SCN2A	342	D	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D343G	False	False	False	False	False	Q99250_342_G
Q99250	SCN2A	359	P	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	P360S	False	False	False	False	False	Q99250_359_S
Q99250	SCN2A	423	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V424M	False	False	False	False	False	Q99250_423_M
Q99250	SCN2A	842	V	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V843E	False	False	False	False	False	Q99250_842_E
Q99250	SCN2A	1407	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1408A	False	False	False	False	False	Q99250_1407_A
Q99250	SCN2A	1628	R	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1629L	False	False	False	False	False	Q99250_1628_L
Q99250	SCN2A	1810	Q	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1811E	False	False	False	False	False	Q99250_1810_E
P35498	SCN1A	1996	H	R	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	H1997R	False	False	False	False	False	P35498_1996_R
P35498	SCN1A	1922	Q	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1923K	False	False	False	False	False	P35498_1922_K
P35498	SCN1A	1877	E	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1878N	False	False	False	False	False	P35498_1877_N
P35498	SCN1A	1741	D	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1742A	False	False	False	False	False	P35498_1741_A
P35498	SCN1A	1708	T	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1709A	False	False	False	False	False	P35498_1708_A
P35498	SCN1A	1641	R	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1642M	False	False	False	False	False	P35498_1641_M
P35498	SCN1A	1560	E	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1561G	False	False	False	False	False	P35498_1560_G
P35498	SCN1A	1543	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1544G	False	False	False	False	False	P35498_1543_G
P35498	SCN1A	1518	P	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1519R	False	False	False	False	False	P35498_1518_R
P35498	SCN1A	1349	V	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1350L	False	False	False	False	False	P35498_1349_L
P35498	SCN1A	1344	P	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1345S	False	False	False	False	False	P35498_1344_S
P35498	SCN1A	1309	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1310E	False	False	False	False	False	P35498_1309_E
P35498	SCN1A	1308	L	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1309V	False	False	False	False	False	P35498_1308_V
P35498	SCN1A	1229	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1230P	False	False	False	False	False	P35498_1229_P
P35498	SCN1A	1209	T	M	1	ClinVar	reviewed by expert panel	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1210M	False	False	False	False	False	P35498_1209_M
P35498	SCN1A	953	E	Q	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E954Q	False	False	False	False	False	P35498_953_Q
P35498	SCN1A	933	M	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M934I	False	False	False	False	False	P35498_933_I
P35498	SCN1A	909	Q	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q910L	False	False	False	False	False	P35498_909_L
P35498	SCN1A	723	V	L	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V724L	False	False	False	False	False	P35498_723_L
P35498	SCN1A	415	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N416K	False	False	False	False	False	P35498_415_K
P35498	SCN1A	383	W	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W384S	False	False	False	False	False	P35498_383_S
P35498	SCN1A	342	G	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G343A	False	False	False	False	False	P35498_342_A
P35498	SCN1A	310	E	G	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E311G	False	False	False	False	False	P35498_310_G
P35498	SCN1A	248	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D249G	False	False	False	False	False	P35498_248_G
P35498	SCN1A	237	G	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G238V	False	False	False	False	False	P35498_237_V
P35498	SCN1A	224	K	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	K225E	False	False	False	False	False	P35498_224_E
P35498	SCN1A	82	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y83C	False	True	False	True	False	P35498_82_C
P12111	COL6A3	3126	K	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	K3127R	False	False	False	False	False	P12111_3126_R
P12111	COL6A3	2881	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P2882L	False	False	False	False	False	P12111_2881_L
P12111	COL6A3	2442	A	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A2443V	False	False	False	False	False	P12111_2442_V
P12111	COL6A3	2102	K	R	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	K2103R	False	False	False	False	False	P12111_2102_R
P12111	COL6A3	1361	F	Y	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	F1362Y	False	False	False	False	False	P12111_1361_Y
P12111	COL6A3	1349	D	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	D1350N	False	False	False	False	False	P12111_1349_N
P12111	COL6A3	1335	V	A	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V1336A	False	False	False	False	False	P12111_1335_A
P12111	COL6A3	1307	R	W	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1308W	False	False	False	False	False	P12111_1307_W
P12111	COL6A3	1297	A	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A1298V	False	False	False	False	False	P12111_1297_V
P12111	COL6A3	575	S	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S576N	False	False	False	False	False	P12111_575_N
P12111	COL6A3	220	V	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V221M	False	False	False	False	False	P12111_220_M
P12111	COL6A3	87	H	Y	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	H88Y	False	False	False	False	False	P12111_87_Y
P40939	HADHA	141	N	S	0	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	N142S	False	False	False	False	False	P40939_141_S
Q13144	EIF2B5	338	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R339W	False	False	False	False	False	Q13144_338_W
P48728	AMT	295	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R296C	False	True	False	True	False	P48728_295_C
P48728	AMT	237	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	A238V	False	False	False	False	False	P48728_237_V
Q00577	PURA	131	L	V	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	L132V	False	False	False	False	False	Q00577_131_V
O60741	HCN1	263	S	C	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S264C	False	True	False	True	False	O60741_263_C
Q96JX3	SERAC1	497	S	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	S498T	False	False	False	False	False	Q96JX3_497_T
O95363	FARS2	169	A	G	0	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	A170G	False	False	False	False	False	O95363_169_G
O95363	FARS2	260	I	V	0	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	I261V	False	False	False	False	False	O95363_260_V
Q99715	COL12A1	724	A	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A725S	False	False	False	False	False	Q99715_724_S
Q99715	COL12A1	387	T	K	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T388K	False	False	False	False	False	Q99715_387_K
P15924	DSP	349	Y	C	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y350C	False	True	False	True	False	P15924_349_C
P15924	DSP	417	I	M	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I418M	False	False	False	False	False	P15924_417_M
P15924	DSP	2317	R	T	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R2318T	False	False	False	False	False	P15924_2317_T
Q14315	FLNC	1176	T	A	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T1177A	False	False	False	False	False	Q14315_1176_A
Q14315	FLNC	2296	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V2297M	False	False	False	False	False	Q14315_2296_M
P35523	CLCN1	253	C	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	C254W	False	False	True	True	False	P35523_253_W
P61981	YWHAG	56	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	R57C	False	True	False	True	False	P61981_56_C
P61764	STXBP1	192	G	V	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G193V	False	False	False	False	False	P61764_192_V
P61764	STXBP1	443	A	V	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A444V	False	False	False	False	False	P61764_443_V
Q05193	DNM1	438	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	V439I	False	False	False	False	False	Q05193_438_I
Q05193	DNM1	809	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G810V	False	False	False	False	False	Q05193_809_V
Q13813	SPTAN1	335	R	Q	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R336Q	False	False	False	False	False	Q13813_335_Q
P23378	GLDC	904	V	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	V905G	False	False	False	False	False	P23378_904_G
P23378	GLDC	818	K	E	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	K819E	False	False	False	False	False	P23378_818_E
P23378	GLDC	674	N	T	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N675T	False	False	False	False	False	P23378_674_T
P23378	GLDC	643	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C644Y	False	False	True	True	False	P23378_643_Y
P23378	GLDC	559	M	T	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	M560T	False	False	False	False	False	P23378_559_T
P23378	GLDC	438	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	K439N	False	False	False	False	False	P23378_438_N
O75899	GABBR2	858	D	N	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	D859N	False	False	False	False	False	O75899_858_N
O95817	BAG3	208	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P209S	False	False	False	False	False	O95817_208_S
O14521	SDHD	101	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	H102R	False	False	False	True	False	O14521_101_R
Q96AD5	PNPLA2	220	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023809523809523808	Patatin-like phospholipase domain-containing prote	R221P	False	False	False	False	False	Q96AD5_220_P
Q13224	GRIN2B	1423	L	F	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	L1424F	False	False	False	False	False	Q13224_1423_F
Q13224	GRIN2B	1279	K	E	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	K1280E	False	False	False	False	False	Q13224_1279_E
Q13224	GRIN2B	708	F	V	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	F709V	False	False	False	False	False	Q13224_708_V
Q13224	GRIN2B	426	G	V	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G427V	False	False	False	False	False	Q13224_426_V
Q13224	GRIN2B	30	S	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S31T	True	False	False	False	True	Q13224_30_T
Q9UQD0	SCN8A	222	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R223S	False	False	False	False	False	Q9UQD0_222_S
Q9UQD0	SCN8A	890	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V891M	False	False	False	False	False	Q9UQD0_890_M
Q9UQD0	SCN8A	966	V	G	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V967G	False	False	False	False	False	Q9UQD0_966_G
Q9UQD0	SCN8A	1314	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1315A	False	False	False	False	False	Q9UQD0_1314_A
Q9UQD0	SCN8A	1349	A	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1350V	False	False	False	False	False	Q9UQD0_1349_V
Q9UQD0	SCN8A	1530	L	F	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1531F	False	False	False	False	False	Q9UQD0_1530_F
P05165	PCCA	229	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R230C	False	True	False	True	False	P05165_229_C
P05165	PCCA	398	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R399W	False	False	False	False	False	P05165_398_W
P12883	MYH7	1864	Q	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q1865P	False	False	False	False	False	P12883_1864_P
P12883	MYH7	1452	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1453P	False	False	False	False	False	P12883_1452_P
P12883	MYH7	819	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A820D	False	False	False	False	False	P12883_819_D
P12883	MYH7	733	Q	E	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q734E	False	False	False	False	False	P12883_733_E
P12883	MYH7	583	G	V	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G584V	False	False	False	False	False	P12883_583_V
P12883	MYH7	570	G	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G571R	False	False	False	False	False	P12883_570_R
P12883	MYH7	354	A	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A355S	False	False	False	False	False	P12883_354_S
Q8NCM2	KCNH5	852	V	M	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	V853M	False	False	False	False	False	Q8NCM2_852_M
Q8NCM2	KCNH5	788	G	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	G789S	False	False	False	False	False	Q8NCM2_788_S
Q15413	RYR3	91	E	K	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E92K	False	False	False	False	False	Q15413_91_K
Q15413	RYR3	430	P	A	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	P431A	False	False	False	False	False	Q15413_430_A
Q15413	RYR3	1957	E	K	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E1958K	False	False	False	False	False	Q15413_1957_K
Q15413	RYR3	3435	L	V	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	L3436V	False	False	False	False	False	Q15413_3435_V
Q15413	RYR3	4115	E	D	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	E4116D	False	False	False	False	False	Q15413_4115_D
C9JR72	KBTBD13	293	P	L	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	P294L	False	False	False	True	False	C9JR72_293_L
O14647	CHD2	198	R	S	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R199S	False	False	False	False	False	O14647_198_S
O14647	CHD2	200	K	M	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K201M	False	False	False	False	False	O14647_200_M
O14647	CHD2	810	L	P	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	L811P	False	False	False	False	False	O14647_810_P
O14647	CHD2	1537	S	F	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1538F	False	False	False	False	False	O14647_1537_F
O14647	CHD2	1759	D	G	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	D1760G	False	False	False	False	False	O14647_1759_G
O14647	CHD2	1796	H	Y	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	H1797Y	False	False	False	False	False	O14647_1796_Y
Q9ULP9	TBC1D24	241	R	H	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	R242H	False	False	False	True	False	Q9ULP9_241_H
P09471	GNAO1	46	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	S47N	True	False	False	False	True	P09471_46_N
P09471	GNAO1	129	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R130Q	False	False	False	False	False	P09471_129_Q
A2IDD5	CCDC78	285	R	C	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R286C	False	True	False	True	False	A2IDD5_285_C
A2IDD5	CCDC78	222	R	H	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R223H	False	False	False	False	False	A2IDD5_222_H
Q86YT5	SLC13A5	67	P	S	1	ClinVar	criteria provided, single submitter	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	P68S	False	False	False	False	False	Q86YT5_67_S
O00555	CACNA1A	2153	R	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2154L	False	False	False	False	False	O00555_2153_L
O00555	CACNA1A	883	A	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A884V	False	False	False	False	False	O00555_883_V
O00555	CACNA1A	464	S	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S465L	False	False	False	False	False	O00555_464_L
P21817	RYR1	2962	L	P	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L2963P	False	False	False	False	False	P21817_2962_P
P21817	RYR1	4630	Y	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y4631S	False	False	False	False	False	P21817_4630_S
Q14721	KCNB1	711	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T712M	False	False	False	False	False	Q14721_711_M
Q14721	KCNB1	687	L	P	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L688P	False	False	False	False	False	Q14721_687_P
Q14721	KCNB1	568	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V569I	False	False	False	False	False	Q14721_568_I
Q14721	KCNB1	551	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A552V	False	False	False	False	False	Q14721_551_V
Q14721	KCNB1	405	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A406V	False	False	False	False	False	Q14721_405_V
P12109	COL6A1	232	D	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D233N	False	False	False	False	False	P12109_232_N
P12109	COL6A1	292	G	E	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G293E	False	False	False	False	False	P12109_292_E
P12109	COL6A1	295	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G296V	False	False	False	False	False	P12109_295_V
P12109	COL6A1	1013	R	C	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R1014C	False	True	False	True	False	P12109_1013_C
P12110	COL6A2	26	S	L	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	S27L	True	False	False	False	True	P12110_26_L
P12110	COL6A2	890	A	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	A891T	False	False	False	False	False	P12110_890_T
P12110	COL6A2	899	A	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	A900T	False	False	False	False	False	P12110_899_T
P12110	COL6A2	963	M	I	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	M964I	False	False	False	False	False	P12110_963_I
Q15049	MLC1	72	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G73E	False	False	False	False	False	Q15049_72_E
Q8TAB3	PCDH19	343	P	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P344Q	False	False	False	False	False	Q8TAB3_343_Q
Q8TAB3	PCDH19	248	E	Q	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E249Q	False	False	False	False	False	Q8TAB3_248_Q
Q9NP73	ALG13	611	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	P612S	False	False	False	False	False	Q9NP73_611_S
O95831	AIFM1	113	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A114V	False	False	False	False	False	O95831_113_V
P51608	MECP2	35	K	R	0	ClinVar	criteria provided, single submitter	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	K36R	True	False	False	False	True	P51608_35_R
O76039	CDKL5	17	V	D	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V18D	True	False	False	False	True	O76039_17_D
O76039	CDKL5	151	C	R	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	C152R	False	False	True	True	False	O76039_151_R
O76039	CDKL5	392	T	A	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T393A	False	False	False	False	False	O76039_392_A
O76039	CDKL5	747	N	T	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N748T	False	False	False	False	False	O76039_747_T
O76039	CDKL5	757	P	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P758S	False	False	False	False	False	O76039_757_S
P08559	PDHA1	230	T	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T231R	False	False	False	True	False	P08559_230_R
P11532	DMD	2841	Q	H	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	Q2842H	False	False	False	False	False	P11532_2841_H
P11532	DMD	1696	Q	H	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	Q1697H	False	False	False	False	False	P11532_1696_H
P11532	DMD	1065	E	D	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	E1066D	False	False	False	False	False	P11532_1065_D
P11532	DMD	474	E	K	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	E475K	False	False	False	False	False	P11532_474_K
O43307	ARHGEF9	185	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01937984496124031	Rho guanine nucleotide exchange factor 9 (Collybis	E186K	False	False	False	False	False	O43307_185_K
O43526	KCNQ2	276	T	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T277P	False	False	False	False	False	O43526_276_P
O43526	KCNQ2	276	T	N	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T277N	False	False	False	False	False	O43526_276_N
O43526	KCNQ2	282	K	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K283E	False	False	False	False	False	O43526_282_E
O43526	KCNQ2	334	P	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P335A	False	False	False	False	False	O43526_334_A
P57059	SIK1	399	V	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	V400F	False	False	False	False	False	P57059_399_F
P57059	SIK1	542	L	P	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	L543P	False	False	False	False	False	P57059_542_P
P57059	SIK1	269	A	T	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A270T	False	False	False	False	False	P57059_269_T
P16389	KCNA2	407	V	A	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	V408A	False	False	False	False	False	P16389_407_A
Q8NI60	COQ8A	212	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R213Q	False	False	False	False	False	Q8NI60_212_Q
P11166	SLC2A1	33	N	K	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	N34K	True	False	False	False	True	P11166_33_K
P63267	ACTG2	112	P	A	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	P113A	False	False	False	False	False	P63267_112_A
Q00577	PURA	143	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	K144E	False	False	False	False	False	Q00577_143_E
P10589	NR2F1	96	H	Y	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	H97Y	False	False	False	True	False	P10589_96_Y
O60706	ABCC9	567	P	L	1	ClinVar	criteria provided, single submitter	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	P568L	False	False	False	False	False	O60706_567_L
P09471	GNAO1	39	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G40R	True	False	False	False	True	P09471_39_R
P20929	NEB	4538	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D4539N	False	False	False	False	False	P20929_4538_N
P40926	MDH2	8	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Malate dehydrogenase, mitochondrial (EC 1.1.1.37)	A9V	True	False	False	False	True	P40926_8_V
P08243	ASNS	209	V	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	V210E	False	False	False	False	False	P08243_209_E
Q00059	TFAM	11	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016260162601626018	Transcription factor A, mitochondrial (mtTFA) (Mit	S12T	True	False	False	False	True	Q00059_11_T
Q96L96	ALPK3	460	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021114369501466276	Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha	G461D	False	False	False	False	False	Q96L96_460_D
Q99807	COQ7	102	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	T103M	False	False	False	False	False	Q99807_102_M
O00555	CACNA1A	1102	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1103L	False	False	False	False	False	O00555_1102_L
P36776	LONP1	797	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	G798S	False	False	False	False	False	P36776_797_S
P36776	LONP1	240	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R241Q	False	False	False	False	False	P36776_240_Q
P36776	LONP1	23	L	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	L24M	True	False	False	False	True	P36776_23_M
Q9NP73	ALG13	774	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	K775R	False	False	False	False	False	Q9NP73_774_R
O76039	CDKL5	589	E	K	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E590K	False	False	False	False	False	O76039_589_K
P11532	DMD	2262	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2263H	False	False	False	False	False	P11532_2262_H
P11532	DMD	1196	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V1197A	False	False	False	False	False	P11532_1196_A
P02545	LMNA	98	R	P	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R99P	False	False	False	False	False	P02545_98_P
P45379	TNNT2	128	E	Q	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	E129Q	False	False	False	False	False	P45379_128_Q
P11532	DMD	1139	H	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	H1140L	False	False	False	False	False	P11532_1139_L
P40939	HADHA	548	R	G	1	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	R549G	False	False	False	False	False	P40939_548_G
P47869	GABRA2	291	T	K	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	T292K	False	False	False	False	False	P47869_291_K
P47869	GABRA2	290	L	V	1	ClinVar	no assertion criteria provided	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	L291V	False	False	False	False	False	P47869_290_V
P47869	GABRA2	262	M	T	1	ClinVar	no assertion criteria provided	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	M263T	False	False	False	False	False	P47869_262_T
P47869	GABRA2	324	F	L	1	ClinVar	no assertion criteria provided	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	F325L	False	False	False	False	False	P47869_324_L
P31644	GABRA5	293	V	L	1	ClinVar	no assertion criteria provided	0.010822510822510822	Gamma-aminobutyric acid receptor subunit alpha-5 (	V294L	False	False	False	False	False	P31644_293_L
P31644	GABRA5	293	V	F	1	ClinVar	criteria provided, single submitter	0.010822510822510822	Gamma-aminobutyric acid receptor subunit alpha-5 (	V294F	False	False	False	False	False	P31644_293_F
P31644	GABRA5	412	S	F	1	ClinVar	no assertion criteria provided	0.010822510822510822	Gamma-aminobutyric acid receptor subunit alpha-5 (	S413F	False	False	False	False	False	P31644_412_F
Q9UI43	MRM2	188	G	R	1	ClinVar	no assertion criteria provided	0.028455284552845527	rRNA methyltransferase 2, mitochondrial (EC 2.1.1.	G189R	False	False	False	False	False	Q9UI43_188_R
O75251	NDUFS7	138	D	N	1	ClinVar	criteria provided, single submitter	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	D139N	False	False	False	False	False	O75251_138_N
P23759	PAX7	55	R	C	1	ClinVar	no assertion criteria provided	0.011881188118811881	Paired box protein Pax-7 (HuP1)	R56C	False	True	False	True	False	P23759_55_C
Q92521	PIGB	70	R	Q	1	ClinVar	no assertion criteria provided	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	R71Q	False	False	False	False	False	Q92521_70_Q
Q92521	PIGB	387	A	P	1	ClinVar	no assertion criteria provided	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	A388P	False	False	False	False	False	Q92521_387_P
Q92521	PIGB	285	V	L	1	ClinVar	no assertion criteria provided	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	V286L	False	False	False	False	False	Q92521_285_L
Q92521	PIGB	231	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	R232H	False	False	False	False	False	Q92521_231_H
Q5T481	RBM20	633	R	L	1	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R634L	False	False	False	False	False	Q5T481_633_L
Q99250	SCN2A	879	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A880T	False	False	False	False	False	Q99250_879_T
Q9UQD0	SCN8A	225	R	G	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R226G	False	False	False	False	False	Q9UQD0_225_G
Q9UQD0	SCN8A	232	V	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V233I	False	False	False	False	False	Q9UQD0_232_I
P09471	GNAO1	245	E	Q	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	E246Q	False	False	False	False	False	P09471_245_Q
P22570	FDXR	206	I	F	1	ClinVar	criteria provided, single submitter	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	I207F	False	False	False	False	False	P22570_206_F
P22570	FDXR	157	V	M	1	ClinVar	criteria provided, single submitter	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	V158M	False	False	False	False	False	P22570_157_M
P13637	ATP1A3	946	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G947W	False	False	False	False	False	P13637_946_W
Q00577	PURA	167	L	P	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	L168P	False	False	False	False	False	Q00577_167_P
Q9UQD0	SCN8A	1630	I	T	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1631T	False	False	False	False	False	Q9UQD0_1630_T
P00505	GOT2	365	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01627906976744186	Aspartate aminotransferase, mitochondrial (mAspAT)	G366V	False	False	False	False	False	P00505_365_V
P00505	GOT2	336	R	G	1	ClinVar	criteria provided, single submitter	0.01627906976744186	Aspartate aminotransferase, mitochondrial (mAspAT)	R337G	False	False	False	False	False	P00505_336_G
P00505	GOT2	261	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01627906976744186	Aspartate aminotransferase, mitochondrial (mAspAT)	R262G	False	False	False	False	False	P00505_261_G
P30084	ECHS1	179	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	T180A	False	False	False	False	False	P30084_179_A
Q9UM47	NOTCH3	551	D	Y	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	D552Y	False	False	False	True	False	Q9UM47_551_Y
Q15031	LARS2	102	R	H	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	R103H	False	False	False	False	False	Q15031_102_H
Q15031	LARS2	129	A	T	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	A130T	False	False	False	False	False	Q15031_129_T
Q15031	LARS2	146	Q	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	Q147P	False	False	False	False	False	Q15031_146_P
Q15031	LARS2	227	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	R228H	False	False	False	False	False	Q15031_227_H
Q15031	LARS2	437	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	D438G	False	False	False	False	False	Q15031_437_G
Q15031	LARS2	535	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	P536L	False	False	False	False	False	Q15031_535_L
Q15031	LARS2	699	T	I	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	T700I	False	False	False	False	False	Q15031_699_I
A1L188	NDUFAF8	0	M	V	1	ClinVar	criteria provided, single submitter	0.06756756756756757	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1V	True	False	False	True	True	A1L188_0_V
A1L188	NDUFAF8	54	F	L	1	ClinVar	criteria provided, single submitter	0.06756756756756757	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	F55L	False	False	False	True	False	A1L188_54_L
Q8WZ42	TTN	2912	M	T	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	M2913T	False	False	False	False	False	Q8WZ42_2912_T
Q8WZ42	TTN	1407	R	H	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R1408H	False	False	False	False	False	Q8WZ42_1407_H
Q8WZ42	TTN	43	Q	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	Q44L	True	False	False	False	True	Q8WZ42_43_L
Q5T481	RBM20	1174	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	T1175A	False	False	False	False	False	Q5T481_1174_A
Q15842	KCNJ8	397	I	M	0	ClinVar	criteria provided, single submitter	0.018867924528301886	ATP-sensitive inward rectifier potassium channel 8	I398M	False	False	False	False	False	Q15842_397_M
P09493	TPM1	54	D	Y	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D55Y	False	False	False	False	False	P09493_54_Y
P09493	TPM1	249	E	V	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E250V	False	False	False	False	False	P09493_249_V
Q9Y3Q4	HCN4	334	M	I	0	ClinVar	criteria provided, single submitter	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	M335I	False	False	False	False	False	Q9Y3Q4_334_I
Q96L12	CALR3	79	R	P	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Calreticulin-3 (Calreticulin-2) (Calsperin)	R80P	False	False	False	False	False	Q96L12_79_P
P12883	MYH7	427	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A428D	False	False	False	False	False	P12883_427_D
Q16635	TAFAZZIN	118	V	M	1	ClinVar	criteria provided, single submitter	0.022900763358778626	Tafazzin (Taz) (EC 2.3.1.-) (Protein G4.5)	V119M	False	False	False	False	False	Q16635_118_M
P45379	TNNT2	182	R	L	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R183L	False	False	False	False	False	P45379_182_L
P68133	ACTA1	376	F	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	F377S	False	False	False	False	False	P68133_376_S
P68133	ACTA1	162	H	Q	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	H163Q	False	False	False	False	False	P68133_162_Q
P30084	ECHS1	282	R	G	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	R283G	False	False	False	False	False	P30084_282_G
O00555	CACNA1A	612	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I613M	False	False	False	False	False	O00555_612_M
O43526	KCNQ2	242	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L243V	False	False	False	False	False	O43526_242_V
Q0VAK6	LMOD3	542	R	L	1	ClinVar	no assertion criteria provided	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	R543L	False	False	False	False	False	Q0VAK6_542_L
Q8TAB3	PCDH19	265	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	D266E	False	False	False	False	False	Q8TAB3_265_E
Q9UQD0	SCN8A	239	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I240T	False	False	False	False	False	Q9UQD0_239_T
P21817	RYR1	2674	T	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T2675K	False	False	False	False	False	P21817_2674_K
P03915	MT-ND5	108	N	Y	0	ClinVar	criteria provided, single submitter	0.009950248756218905	NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2	N109Y	False	False	False	False	False	P03915_108_Y
P03915	MT-ND5	108	N	S	0	ClinVar	criteria provided, single submitter	0.009950248756218905	NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2	N109S	False	False	False	False	False	P03915_108_S
P03915	MT-ND5	112	N	S	0	ClinVar	criteria provided, single submitter	0.009950248756218905	NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2	N113S	False	False	False	False	False	P03915_112_S
P03915	MT-ND5	126	T	A	0	ClinVar	criteria provided, single submitter	0.009950248756218905	NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2	T127A	False	False	False	False	False	P03915_126_A
P03915	MT-ND5	131	V	I	0	ClinVar	criteria provided, single submitter	0.009950248756218905	NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2	V132I	False	False	False	False	False	P03915_131_I
P63267	ACTG2	38	P	L	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	P39L	True	False	False	False	True	P63267_38_L
P63267	ACTG2	62	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R63Q	False	False	False	False	False	P63267_62_Q
Q9UQD0	SCN8A	1317	N	S	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1318S	False	False	False	False	False	Q9UQD0_1317_S
P35609	ACTN2	726	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	L727R	False	False	False	False	False	P35609_726_R
P35609	ACTN2	486	C	R	1	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	C487R	False	False	True	True	False	P35609_486_R
P39210	MPV17	92	Q	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	Q93P	False	False	False	False	False	P39210_92_P
P39210	MPV17	22	A	P	1	ClinVar	criteria provided, single submitter	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	A23P	True	False	False	False	True	P39210_22_P
Q96RR1	TWNK	191	R	C	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R192C	False	True	False	True	False	Q96RR1_191_C
Q96RR1	TWNK	399	R	L	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R400L	False	False	False	False	False	Q96RR1_399_L
Q96RR1	TWNK	410	T	M	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	T411M	False	False	False	False	False	Q96RR1_410_M
Q96RR1	TWNK	437	N	K	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	N438K	False	False	False	False	False	Q96RR1_437_K
Q96RR1	TWNK	473	W	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	W474C	False	True	False	True	False	Q96RR1_473_C
P54098	POLG	930	L	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L931R	False	False	False	False	False	P54098_930_R
P54098	POLG	888	A	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A889P	False	False	False	False	False	P54098_888_P
P54098	POLG	769	F	L	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	F770L	False	False	False	False	False	P54098_769_L
P19971	TYMP	333	L	R	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L334R	False	False	False	False	False	P19971_333_R
Q8TDJ6	DMXL2	1711	A	V	1	ClinVar	no assertion criteria provided	0.020421607378129116	DmX-like protein 2 (Rabconnectin-3)	A1712V	False	False	False	False	False	Q8TDJ6_1711_V
Q0ZGT2	NEXN	275	E	K	0	ClinVar	criteria provided, single submitter	0.005925925925925926	Nexilin (F-actin-binding protein) (Nelin)	E276K	False	False	False	False	False	Q0ZGT2_275_K
Q8WZ42	TTN	21190	P	T	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	P21191T	False	False	False	False	False	Q8WZ42_21190_T
Q8WZ42	TTN	2304	E	D	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	E2305D	False	False	False	False	False	Q8WZ42_2304_D
Q07699	SCN1B	118	Y	D	1	ClinVar	no assertion criteria provided	0.03211009174311927	Sodium channel regulatory subunit beta-1	Y119D	False	False	False	True	False	Q07699_118_D
O95831	AIFM1	236	D	G	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	D237G	False	False	False	False	False	O95831_236_G
O95831	AIFM1	234	Q	H	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	Q235H	False	False	False	False	False	O95831_234_H
Q9BUE6	ISCA1	9	V	G	1	ClinVar	no assertion criteria provided	0.023255813953488372	Iron-sulfur cluster assembly 1 homolog, mitochondr	V10G	True	False	False	False	True	Q9BUE6_9_G
P49810	PSEN2	173	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020089285714285716	Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E	M174V	False	False	False	False	False	P49810_173_V
O14647	CHD2	1107	S	T	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1108T	False	False	False	False	False	O14647_1107_T
Q9BQ52	ELAC2	233	V	I	0	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	V234I	False	False	False	False	False	Q9BQ52_233_I
O94989	ARHGEF15	746	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	C747R	False	False	True	True	False	O94989_746_R
P52179	MYOM1	482	R	H	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	R483H	False	False	False	False	False	P52179_482_H
Q9NP73	ALG13	462	E	G	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	E463G	False	False	False	False	False	Q9NP73_462_G
O95831	AIFM1	91	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	E92K	False	False	False	False	False	O95831_91_K
Q13698	CACNA1S	441	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	V442I	False	False	False	False	False	Q13698_441_I
Q00839	HNRNPU	694	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	S695G	False	False	False	False	False	Q00839_694_G
Q00839	HNRNPU	152	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G153D	False	False	False	False	False	Q00839_152_D
Q5T011	SZT2	1118	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	P1119A	False	False	False	False	False	Q5T011_1118_A
Q8WZ42	TTN	2013	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	T2014A	False	False	False	False	False	Q8WZ42_2013_A
O60741	HCN1	723	A	T	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A724T	False	False	False	False	False	O60741_723_T
Q16363	LAMA4	1102	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	R1103C	False	True	False	True	False	Q16363_1102_C
O95677	EYA4	308	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012519561815336464	Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absen	T309A	False	False	False	False	False	O95677_308_A
Q9UGJ0	PRKAG2	110	Q	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	Q111K	False	False	False	False	False	Q9UGJ0_110_K
Q13813	SPTAN1	784	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R785Q	False	False	False	False	False	Q13813_784_Q
Q5T481	RBM20	390	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	V391M	False	False	False	False	False	Q5T481_390_M
Q86TC9	MYPN	697	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020454545454545454	Myopalladin (145 kDa sarcomeric protein)	N698S	False	False	False	False	False	Q86TC9_697_S
Q9NX18	SDHAF2	89	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	A90V	False	False	False	False	False	Q9NX18_89_V
O60706	ABCC9	1364	I	V	0	ClinVar	criteria provided, single submitter	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	I1365V	False	False	False	False	False	O60706_1364_V
Q9UQD0	SCN8A	603	P	S	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	P604S	False	False	False	False	False	Q9UQD0_603_S
P13533	MYH6	1310	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	T1311I	False	False	False	False	False	P13533_1310_I
O14647	CHD2	81	A	G	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A82G	False	False	False	False	False	O14647_81_G
Q16619	CTF1	18	L	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009950248756218905	Cardiotrophin-1 (CT-1)	L19I	True	False	False	False	True	Q16619_18_I
Q9BQ52	ELAC2	626	S	L	0	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	S627L	False	False	False	False	False	Q9BQ52_626_L
O94989	ARHGEF15	200	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	D201H	False	False	False	False	False	O94989_200_H
P52179	MYOM1	1280	E	K	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	E1281K	False	False	False	False	False	P52179_1280_K
P52179	MYOM1	1109	S	R	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	S1110R	False	False	False	False	False	P52179_1109_R
Q9UM47	NOTCH3	2208	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	P2209L	False	False	False	True	False	Q9UM47_2208_L
Q9BR39	JPH2	273	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005747126436781609	Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleav	D274N	False	False	False	False	False	Q9BR39_273_N
Q8TAB3	PCDH19	1106	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	R1107H	False	False	False	False	False	Q8TAB3_1106_H
Q9NP73	ALG13	285	K	R	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	K286R	False	False	False	False	False	Q9NP73_285_R
Q9NP73	ALG13	331	Y	C	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Y332C	False	True	False	True	False	Q9NP73_331_C
Q9NP73	ALG13	670	P	L	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	P671L	False	False	False	False	False	Q9NP73_670_L
Q96QS3	ARX	221	G	R	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	G222R	False	False	False	False	False	Q96QS3_221_R
P11532	DMD	3136	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	N3137S	False	False	False	False	False	P11532_3136_S
P11532	DMD	648	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R649W	False	False	False	False	False	P11532_648_W
Q8IWE5	PLEKHM2	986	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029440628066732092	Pleckstrin homology domain-containing family M mem	N987K	False	False	False	False	False	Q8IWE5_986_K
P49810	PSEN2	53	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020089285714285716	Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E	E54D	False	False	False	False	False	P49810_53_D
Q5T440	IBA57	309	F	L	0	ClinVar	criteria provided, single submitter	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	F310L	False	False	False	False	False	Q5T440_309_L
P49792	RANBP2	737	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	P738S	False	False	False	False	False	P49792_737_S
P20929	NEB	6074	H	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H6075P	False	False	False	False	False	P20929_6074_P
P20929	NEB	1535	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S1536N	False	False	False	False	False	P20929_1535_N
P40939	HADHA	686	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	M687T	False	False	False	False	False	P40939_686_T
Q16363	LAMA4	1676	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	R1677C	False	True	False	True	False	Q16363_1676_C
Q99715	COL12A1	2860	S	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	S2861N	False	False	False	False	False	Q99715_2860_N
Q14315	FLNC	1270	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T1271S	False	False	False	False	False	Q14315_1270_S
P08172	CHRM2	252	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027896995708154508	Muscarinic acetylcholine receptor M2	D253N	False	False	False	False	False	P08172_252_N
P22626	HNRNPA2B1	203	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0028328611898017	Heterogeneous nuclear ribonucleoproteins A2/B1 (hn	G204S	False	False	False	False	False	P22626_203_S
Q9Y6H1	CHCHD2	1	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026490066225165563	Coiled-coil-helix-coiled-coil-helix domain-contain	P2L	True	False	False	False	True	Q9Y6H1_1_L
Q9P0K9	FRRS1L	26	A	S	0	ClinVar	criteria provided, single submitter	0.027303754266211604	DOMON domain-containing protein FRRS1L (Brain prot	A27S	True	False	False	False	True	Q9P0K9_26_S
O95817	BAG3	511	P	S	0	ClinVar	criteria provided, single submitter	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P512S	False	False	False	False	False	O95817_511_S
Q96AD5	PNPLA2	494	A	T	0	ClinVar	criteria provided, single submitter	0.023809523809523808	Patatin-like phospholipase domain-containing prote	A495T	False	False	False	False	False	Q96AD5_494_T
P43897	TSFM	1	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	S2L	True	False	False	False	True	P43897_1_L
Q15413	RYR3	1501	R	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R1502L	False	False	False	False	False	Q15413_1501_L
C9JR72	KBTBD13	410	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	T411M	False	False	False	True	False	C9JR72_410_M
O14647	CHD2	198	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R199P	False	False	False	False	False	O14647_198_P
A2IDD5	CCDC78	396	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R397C	False	True	False	True	False	A2IDD5_396_C
A2IDD5	CCDC78	275	A	V	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	A276V	False	False	False	False	False	A2IDD5_275_V
P49327	FASN	2385	A	V	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A2386V	False	False	False	False	False	P49327_2385_V
P49327	FASN	521	R	H	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R522H	False	False	False	False	False	P49327_521_H
O94989	ARHGEF15	633	R	C	0	ClinVar	criteria provided, single submitter	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R634C	False	True	False	True	False	O94989_633_C
P52179	MYOM1	447	V	G	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	V448G	False	False	False	False	False	P52179_447_G
P52179	MYOM1	331	Y	C	0	ClinVar	criteria provided, single submitter	0.01543026706231454	Myomesin-1 (190 kDa connectin-associated protein) 	Y332C	False	True	False	True	False	P52179_331_C
O43426	SYNJ1	294	K	Q	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	K295Q	False	False	False	False	False	O43426_294_Q
P57059	SIK1	436	S	G	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	S437G	False	False	False	False	False	P57059_436_G
Q8WYQ3	CHCHD10	76	S	G	0	ClinVar	criteria provided, single submitter	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	S77G	False	False	False	False	False	Q8WYQ3_76_G
O43819	SCO2	151	E	D	0	ClinVar	criteria provided, single submitter	0.011278195488721804	Protein SCO2 homolog, mitochondrial	E152D	False	False	False	False	False	O43819_151_D
P11532	DMD	686	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T687M	False	False	False	False	False	P11532_686_M
P11532	DMD	334	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	M335T	False	False	False	False	False	P11532_334_T
Q15878	CACNA1E	1903	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	P1904T	False	False	False	False	False	Q15878_1903_T
Q9NSE4	IARS2	45	S	F	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	S46F	True	False	False	False	True	Q9NSE4_45_F
Q00839	HNRNPU	124	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	E125A	False	False	False	False	False	Q00839_124_A
Q9Y5C1	ANGPTL3;DOCK7	258	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008695652173913044	Angiopoietin-related protein 3 (Angiopoietin-5) (A	M259T	False	False	False	False	False	Q9Y5C1_258_T
P49792	RANBP2	2226	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	Y2227C	False	True	False	True	False	P49792_2226_C
P20929	NEB	156	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I157V	False	False	False	False	False	P20929_156_V
Q15772	SPEG	2230	P	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01499846954392409	Striated muscle preferentially expressed protein k	P2231H	False	False	False	False	False	Q15772_2230_H
Q96Q11	TRNT1	22	P	V	0	ClinVar	criteria provided, single submitter	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	P23V	True	False	False	False	True	Q96Q11_22_V
Q96Q11	TRNT1	110	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	I111V	False	False	False	False	False	Q96Q11_110_V
Q96Q11	TRNT1	287	F	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	F288I	False	False	False	False	False	Q96Q11_287_I
Q0VAK6	LMOD3	526	P	S	0	ClinVar	criteria provided, single submitter	0.005357142857142857	Leiomodin-3 (Leiomodin, fetal form)	P527S	False	False	False	False	False	Q0VAK6_526_S
Q9NZV8	KCND2	471	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	S472F	False	False	False	False	False	Q9NZV8_471_F
Q14315	FLNC	7	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	S8P	True	False	False	False	True	Q14315_7_P
Q14315	FLNC	1486	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V1487M	False	False	False	False	False	Q14315_1486_M
Q15652	JMJD1C	2034	Q	P	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	Q2035P	False	False	False	False	False	Q15652_2034_P
P10176	COX8A	22	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014492753623188406	Cytochrome c oxidase subunit 8A, mitochondrial (Cy	R23C	True	True	False	True	True	P10176_22_C
Q9H1K1	ISCU	6	F	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023952095808383235	Iron-sulfur cluster assembly enzyme ISCU (NifU-lik	F7V	True	False	False	False	True	Q9H1K1_6_V
Q12860	CNTN1	581	T	I	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	T582I	False	False	False	False	False	Q12860_581_I
Q12860	CNTN1	635	K	T	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	K636T	False	False	False	False	False	Q12860_635_T
Q9UHD2	TBK1	612	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015089163237311385	Serine/threonine-protein kinase TBK1 (EC 2.7.11.1)	L613F	False	False	False	False	False	Q9UHD2_612_F
Q15413	RYR3	335	R	Q	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R336Q	False	False	False	False	False	Q15413_335_Q
P22695	UQCRC2	317	Q	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	Q318P	False	False	False	False	False	P22695_317_P
Q9UKX2	MYH2	1335	A	E	0	ClinVar	criteria provided, single submitter	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	A1336E	False	False	False	False	False	Q9UKX2_1335_E
P49327	FASN	2235	S	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	S2236F	False	False	False	False	False	P49327_2235_F
P49327	FASN	1933	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R1934C	False	True	False	True	False	P49327_1933_C
P49327	FASN	1526	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P1527L	False	False	False	False	False	P49327_1526_L
P49327	FASN	1375	A	V	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A1376V	False	False	False	False	False	P49327_1375_V
P49327	FASN	1095	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	G1096R	False	False	False	False	False	P49327_1095_R
P49327	FASN	859	A	V	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A860V	False	False	False	False	False	P49327_859_V
P49327	FASN	706	P	L	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P707L	False	False	False	False	False	P49327_706_L
P49327	FASN	313	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A314T	False	False	False	False	False	P49327_313_T
Q9UM47	NOTCH3	1230	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R1231H	False	False	False	True	False	Q9UM47_1230_H
Q9UM47	NOTCH3	166	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	P167S	False	False	False	True	False	Q9UM47_166_S
P36776	LONP1	674	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V675L	False	False	False	False	False	P36776_674_L
P36776	LONP1	640	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V641I	False	False	False	False	False	P36776_640_I
P36776	LONP1	86	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	E87D	False	False	False	False	False	P36776_86_D
P0DJ07	PET100	72	S	C	0	ClinVar	criteria provided, single submitter	0.0	Protein PET100 homolog, mitochondrial	S73C	False	True	False	True	False	P0DJ07_72_C
P57059	SIK1	366	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	S367L	False	False	False	False	False	P57059_366_L
Q15878	CACNA1E	862	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R863Q	False	False	False	False	False	Q15878_862_Q
Q9NSE4	IARS2	1006	E	Q	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	E1007Q	False	False	False	False	False	Q9NSE4_1006_Q
P49792	RANBP2	1053	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	Q1054H	False	False	False	False	False	P49792_1053_H
P49792	RANBP2	1054	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	P1055S	False	False	False	False	False	P49792_1054_S
P49792	RANBP2	1511	A	S	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	A1512S	False	False	False	False	False	P49792_1511_S
P49792	RANBP2	2708	E	K	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	E2709K	False	False	False	False	False	P49792_2708_K
A2RRP1	NBAS	1309	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	T1310A	False	False	False	False	False	A2RRP1_1309_A
Q4G0N4	NADK2	145	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02262443438914027	NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitocho	E146D	False	False	False	False	False	Q4G0N4_145_D
O00584	RNASET2	71	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04296875	Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)	S72G	False	False	False	True	False	O00584_71_G
Q99715	COL12A1	656	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	E657D	False	False	False	False	False	Q99715_656_D
O95425	SVIL	1413	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014453477868112014	Supervillin (Archvillin) (p205/p250)	S1414T	False	False	False	False	False	O95425_1413_T
Q15652	JMJD1C	1457	L	S	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	L1458S	False	False	False	False	False	Q15652_1457_S
P11498	PC	1070	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A1071G	False	False	False	False	False	P11498_1070_G
Q96I59	NARS2	360	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	N361S	False	False	False	False	False	Q96I59_360_S
Q5BKY1	LRRC10	88	A	V	0	ClinVar	criteria provided, single submitter	0.02888086642599278	Leucine-rich repeat-containing protein 10	A89V	False	False	False	False	False	Q5BKY1_88_V
Q15413	RYR3	915	K	T	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	K916T	False	False	False	False	False	Q15413_915_T
Q8TDJ6	DMXL2	1286	S	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020421607378129116	DmX-like protein 2 (Rabconnectin-3)	S1287I	False	False	False	False	False	Q8TDJ6_1286_I
Q99807	COQ7	41	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	D42H	True	False	False	False	True	Q99807_41_H
P35218	CA5A	218	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	T219A	False	False	False	False	False	P35218_218_A
P49327	FASN	1912	V	M	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	V1913M	False	False	False	False	False	P49327_1912_M
P49327	FASN	1693	R	C	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R1694C	False	True	False	True	False	P49327_1693_C
P49327	FASN	1129	E	K	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	E1130K	False	False	False	False	False	P49327_1129_K
P49327	FASN	424	R	W	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R425W	False	False	False	False	False	P49327_424_W
Q3ZCQ8	TIMM50	8	S	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0113314447592068	Mitochondrial import inner membrane translocase su	S9W	True	False	False	False	True	Q3ZCQ8_8_W
P57059	SIK1	290	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A291T	False	False	False	False	False	P57059_290_T
Q13496	MTM1	206	R	H	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R207H	False	False	False	False	False	Q13496_206_H
P11532	DMD	1144	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V1145L	False	False	False	False	False	P11532_1144_L
P53985	SLC16A1	324	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024	Monocarboxylate transporter 1 (MCT 1) (Solute carr	I325V	False	False	False	False	False	P53985_324_V
Q8IWE5	PLEKHM2	472	S	N	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	S473N	False	False	False	False	False	Q8IWE5_472_N
Q96BR5	COA7	47	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05627705627705628	Cytochrome c oxidase assembly factor 7 (Beta-lacta	R48Q	True	False	False	True	True	Q96BR5_47_Q
P49792	RANBP2	453	R	Q	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	R454Q	False	False	False	False	False	P49792_453_Q
Q96RP9	GFM1	262	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	Q263R	False	False	False	False	False	Q96RP9_262_R
P07333	CSF1R	517	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V518M	False	False	False	False	False	P07333_517_M
O60741	HCN1	694	S	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S695A	False	False	False	False	False	O60741_694_A
Q96JX3	SERAC1	7	V	I	0	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	V8I	True	False	False	False	True	Q96JX3_7_I
O00584	RNASET2	235	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.04296875	Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)	R236Q	False	False	False	True	False	O00584_235_Q
Q9NZC2	TREM2	222	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	T223I	False	False	False	False	False	Q9NZC2_222_I
Q9P0K1	ADAM22	44	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05077262693156733	Disintegrin and metalloproteinase domain-containin	V45M	True	False	False	True	True	Q9P0K1_44_M
Q9Y3A0	COQ4	31	D	E	0	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	D32E	True	False	False	False	True	Q9Y3A0_31_E
O75899	GABBR2	294	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T295M	False	False	False	False	False	O75899_294_M
Q15652	JMJD1C	1574	V	A	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	V1575A	False	False	False	False	False	Q15652_1574_A
Q15652	JMJD1C	1022	R	H	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	R1023H	False	False	False	False	False	Q15652_1022_H
P02462	COL4A1	797	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	V798L	False	False	False	False	False	P02462_797_L
Q9Y2Z9	COQ6	439	P	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	P440Q	False	False	False	False	False	Q9Y2Z9_439_Q
P35218	CA5A	81	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	P82T	False	False	False	False	False	P35218_81_T
Q14721	KCNB1	620	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A621S	False	False	False	False	False	Q14721_620_S
Q9NP73	ALG13	759	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	A760S	False	False	False	False	False	Q9NP73_759_S
P51608	MECP2	159	T	A	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	T160A	False	False	False	False	False	P51608_159_A
P11532	DMD	2941	A	S	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	A2942S	False	False	False	False	False	P11532_2941_S
Q9BW92	TARS2	490	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	R491H	False	False	False	False	False	Q9BW92_490_H
Q8IWE5	PLEKHM2	708	P	L	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	P709L	False	False	False	False	False	Q8IWE5_708_L
Q9NSE4	IARS2	647	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	Y648C	False	True	False	True	False	Q9NSE4_647_C
Q00839	HNRNPU	68	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	R69P	False	False	False	False	False	Q00839_68_P
Q96N67	DOCK7	93	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01542056074766355	Dedicator of cytokinesis protein 7	R94Q	False	False	False	False	False	Q96N67_93_Q
Q8WZ42	TTN	426	A	V	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A427V	False	False	False	False	False	Q8WZ42_426_V
Q9UPV9	TRAK1	483	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017838405036726127	Trafficking kinesin-binding protein 1 (106 kDa O-G	P484L	False	False	False	False	False	Q9UPV9_483_L
P38646	HSPA9	25	H	Y	0	ClinVar	criteria provided, single submitter	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	H26Y	True	False	False	False	True	P38646_25_Y
O60741	HCN1	743	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P744L	False	False	False	False	False	O60741_743_L
Q86YH6	PDSS2	1	N	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015037593984962405	All trans-polyprenyl-diphosphate synthase PDSS2 (A	N2H	True	False	False	False	True	Q86YH6_1_H
Q16363	LAMA4	124	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	A125S	False	False	False	False	False	Q16363_124_S
Q13813	SPTAN1	837	P	L	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	P838L	False	False	False	False	False	Q13813_837_L
P23378	GLDC	1000	T	N	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T1001N	False	False	False	False	False	P23378_1000_N
Q15652	JMJD1C	1071	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	R1072C	False	True	False	True	False	Q15652_1071_C
Q7KZN9	COX15	346	I	T	0	ClinVar	criteria provided, single submitter	0.014634146341463415	Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytoch	I347T	False	False	False	False	False	Q7KZN9_346_T
O75489	NDUFS3	21	R	K	0	ClinVar	criteria provided, single submitter	0.007575757575757576	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R22K	True	False	False	False	True	O75489_21_K
Q96I59	NARS2	8	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	R9W	True	False	False	False	True	Q96I59_8_W
Q8NC96	NECAP1	236	V	L	0	ClinVar	criteria provided, single submitter	0.007272727272727273	Adaptin ear-binding coat-associated protein 1 (NEC	V237L	False	False	False	False	False	Q8NC96_236_L
Q9BSH4	TACO1	295	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026936026936026935	Translational activator of cytochrome c oxidase 1 	I296T	False	False	False	False	False	Q9BSH4_295_T
P49327	FASN	48	R	Q	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R49Q	True	False	False	False	True	P49327_48_Q
P36776	LONP1	537	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R538H	False	False	False	False	False	P36776_537_H
Q99798	ACO2	462	G	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016666666666666666	Aconitate hydratase, mitochondrial (Aconitase) (EC	G463W	False	False	False	False	False	Q99798_462_W
Q15049	MLC1	200	V	I	0	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	V201I	False	False	False	False	False	Q15049_200_I
Q15049	MLC1	25	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	A26T	True	False	False	False	True	Q15049_25_T
Q9NP73	ALG13	394	N	H	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	N395H	False	False	False	False	False	Q9NP73_394_H
Q13496	MTM1	404	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	I405V	False	False	False	False	False	Q13496_404_V
P08559	PDHA1	371	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D372N	False	False	False	True	False	P08559_371_N
P11532	DMD	3525	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R3526H	False	False	False	False	False	P11532_3525_H
O95831	AIFM1	337	G	E	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G338E	False	False	False	False	False	O95831_337_E
O95831	AIFM1	261	G	S	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G262S	False	False	False	False	False	O95831_261_S
O95831	AIFM1	140	T	I	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	T141I	False	False	False	False	False	O95831_140_I
Q9NSE4	IARS2	709	A	T	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	A710T	False	False	False	False	False	Q9NSE4_709_T
Q00839	HNRNPU	402	N	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N403T	False	False	False	False	False	Q00839_402_T
P35498	SCN1A	759	V	I	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V760I	False	False	False	False	False	P35498_759_I
P12111	COL6A3	1330	R	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1331H	False	False	False	False	False	P12111_1330_H
P42704	LRPPRC	1359	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A1360T	False	False	False	False	False	P42704_1359_T
P42704	LRPPRC	920	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A921S	False	False	False	False	False	P42704_920_S
P42704	LRPPRC	613	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	M614T	False	False	False	False	False	P42704_613_T
Q9NPL8	TIMMDC1	160	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010526315789473684	Complex I assembly factor TIMMDC1, mitochondrial (	N161D	False	False	False	False	False	Q9NPL8_160_D
Q96RP9	GFM1	73	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	A74S	False	False	False	False	False	Q96RP9_73_S
Q96KG7	MEGF10	579	N	S	0	ClinVar	criteria provided, single submitter	0.12982456140350876	Multiple epidermal growth factor-like domains prot	N580S	False	False	False	True	False	Q96KG7_579_S
P38646	HSPA9	171	M	I	0	ClinVar	criteria provided, single submitter	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	M172I	False	False	False	False	False	P38646_171_I
Q16698	DECR1	239	P	L	0	ClinVar	criteria provided, single submitter	0.014925373134328358	2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producin	P240L	False	False	False	False	False	Q16698_239_L
Q13813	SPTAN1	917	Y	N	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Y918N	False	False	False	False	False	Q13813_917_N
Q96I59	NARS2	103	K	R	0	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	K104R	False	False	False	False	False	Q96I59_103_R
Q13224	GRIN2B	1137	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1138Q	False	False	False	False	False	Q13224_1137_Q
P05165	PCCA	163	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	I164V	False	False	False	False	False	P05165_163_V
Q15413	RYR3	2041	N	T	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	N2042T	False	False	False	False	False	Q15413_2041_T
Q15413	RYR3	2620	Y	F	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	Y2621F	False	False	False	False	False	Q15413_2620_F
O75208	COQ9	230	A	S	0	ClinVar	criteria provided, single submitter	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	A231S	False	False	False	False	False	O75208_230_S
O75880	SCO1	55	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013289036544850499	Protein SCO1 homolog, mitochondrial	G56E	False	False	False	False	False	O75880_55_E
Q9BSH4	TACO1	179	R	C	0	ClinVar	criteria provided, single submitter	0.026936026936026935	Translational activator of cytochrome c oxidase 1 	R180C	False	True	False	True	False	Q9BSH4_179_C
P49327	FASN	1310	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	D1311N	False	False	False	False	False	P49327_1310_N
P49327	FASN	1274	R	C	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	R1275C	False	True	False	True	False	P49327_1274_C
P36776	LONP1	885	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	T886M	False	False	False	False	False	P36776_885_M
P36776	LONP1	480	A	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A481V	False	False	False	False	False	P36776_480_V
Q14721	KCNB1	818	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A819V	False	False	False	False	False	Q14721_818_V
P57059	SIK1	742	A	T	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A743T	False	False	False	False	False	P57059_742_T
Q8IUG5	MYO18B	959	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	A960V	False	False	False	False	False	Q8IUG5_959_V
Q15049	MLC1	181	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	A182T	False	False	False	False	False	Q15049_181_T
P11532	DMD	2411	A	V	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	A2412V	False	False	False	False	False	P11532_2411_V
P11532	DMD	2124	Q	H	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	Q2125H	False	False	False	False	False	P11532_2124_H
O00555	CACNA1A	2260	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G2261D	False	False	False	False	False	O00555_2260_D
Q00839	HNRNPU	394	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	D395H	False	False	False	False	False	Q00839_394_H
Q00839	HNRNPU	302	R	I	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	R303I	False	False	False	False	False	Q00839_302_I
Q00839	HNRNPU	119	P	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P120R	False	False	False	False	False	Q00839_119_R
O60741	HCN1	756	T	I	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	T757I	False	False	False	False	False	O60741_756_I
Q96JX3	SERAC1	121	S	G	0	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	S122G	False	False	False	False	False	Q96JX3_121_G
Q6PJG6	BRAT1	564	A	T	0	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	A565T	False	False	False	True	False	Q6PJG6_564_T
Q6PJG6	BRAT1	303	K	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	K304Q	False	False	False	True	False	Q6PJG6_303_Q
Q9Y606	PUS1	36	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	P37R	True	False	False	False	True	Q9Y606_36_R
Q9Y606	PUS1	358	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	A359V	False	False	False	False	False	Q9Y606_358_V
Q13224	GRIN2B	1224	Y	N	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	Y1225N	False	False	False	False	False	Q13224_1224_N
O14647	CHD2	19	S	L	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S20L	True	False	False	False	True	O14647_19_L
P49327	FASN	1375	A	T	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A1376T	False	False	False	False	False	P49327_1375_T
P49327	FASN	999	D	N	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	D1000N	False	False	False	False	False	P49327_999_N
O00555	CACNA1A	1630	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1631V	False	False	False	False	False	O00555_1630_V
Q14721	KCNB1	701	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A702V	False	False	False	False	False	Q14721_701_V
O43426	SYNJ1	847	H	Y	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	H848Y	False	False	False	False	False	O43426_847_Y
Q15049	MLC1	344	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G345S	False	False	False	False	False	Q15049_344_S
Q9NP73	ALG13	756	M	V	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	M757V	False	False	False	False	False	Q9NP73_756_V
Q13496	MTM1	18	I	L	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	I19L	True	False	False	False	True	Q13496_18_L
P08559	PDHA1	366	H	Y	0	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H367Y	False	False	False	True	False	P08559_366_Y
P11532	DMD	376	D	E	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	D377E	False	False	False	False	False	P11532_376_E
Q14683	SMC1A	679	R	H	0	ClinVar	criteria provided, single submitter	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	R680H	False	False	False	False	False	Q14683_679_H
Q9UQD0	SCN8A	210	V	A	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V211A	False	False	False	False	False	Q9UQD0_210_A
Q96N67	DOCK7	1421	T	K	0	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	T1422K	False	False	False	False	False	Q96N67_1421_K
Q00839	HNRNPU	405	I	V	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	I406V	False	False	False	False	False	Q00839_405_V
P10809	HSPD1	560	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	M561V	False	False	False	False	False	P10809_560_V
Q13813	SPTAN1	826	Q	H	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q827H	False	False	False	False	False	Q13813_826_H
O76041	NEBL	746	S	L	0	ClinVar	criteria provided, single submitter	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	S747L	False	False	False	False	False	O76041_746_L
Q9Y606	PUS1	388	Q	R	0	ClinVar	criteria provided, single submitter	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	Q389R	False	False	False	False	False	Q9Y606_388_R
Q9UQD0	SCN8A	1061	N	S	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1062S	False	False	False	False	False	Q9UQD0_1061_S
Q9UQD0	SCN8A	1067	S	N	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S1068N	False	False	False	False	False	Q9UQD0_1067_N
Q9UQD0	SCN8A	1127	D	E	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D1128E	False	False	False	False	False	Q9UQD0_1127_E
C9JR72	KBTBD13	17	F	C	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	F18C	True	True	False	True	True	C9JR72_17_C
O14647	CHD2	1088	T	P	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T1089P	False	False	False	False	False	O14647_1088_P
P49327	FASN	1483	P	L	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	P1484L	False	False	False	False	False	P49327_1483_L
P49327	FASN	613	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	H614Y	False	False	False	False	False	P49327_613_Y
Q14683	SMC1A	123	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	L124F	False	False	False	False	False	Q14683_123_F
Q13642	FHL1	239	P	S	0	ClinVar	criteria provided, single submitter	0.09597523219814241	Four and a half LIM domains protein 1 (FHL-1) (Ske	P240S	False	False	False	True	False	Q13642_239_S
P28331	NDUFS1	706	M	I	1	ClinVar	no assertion criteria provided	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	M707I	False	False	False	False	False	P28331_706_I
P42704	LRPPRC	392	Y	H	1	ClinVar	no assertion criteria provided	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	Y393H	False	False	False	False	False	P42704_392_H
O75380	NDUFS6	26	C	Y	1	ClinVar	no assertion criteria provided	0.04838709677419355	NADH dehydrogenase [ubiquinone] iron-sulfur protei	C27Y	True	False	True	True	True	O75380_26_Y
P08243	ASNS	397	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	Y398C	False	True	False	True	False	P08243_397_C
P08243	ASNS	386	E	G	1	ClinVar	no assertion criteria provided	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	E387G	False	False	False	False	False	P08243_386_G
P23378	GLDC	966	E	D	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	E967D	False	False	False	False	False	P23378_966_D
Q13224	GRIN2B	809	S	N	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S810N	False	False	False	False	False	Q13224_809_N
Q14721	KCNB1	407	P	S	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P408S	False	False	False	False	False	Q14721_407_S
O43819	SCO2	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011278195488721804	Protein SCO2 homolog, mitochondrial	M1T	True	False	False	False	True	O43819_0_T
P08243	ASNS	549	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R550H	False	False	False	False	False	P08243_549_H
Q13813	SPTAN1	1486	H	L	1	ClinVar	no assertion criteria provided	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	H1487L	False	False	False	False	False	Q13813_1486_L
P31930	UQCRC1	275	R	C	1	ClinVar	no assertion criteria provided	0.025	Cytochrome b-c1 complex subunit 1, mitochondrial (	R276C	False	True	False	True	False	P31930_275_C
Q9NYQ7	CELSR3	3032	R	H	0	ClinVar	criteria provided, single submitter	0.025966183574879228	Cadherin EGF LAG seven-pass G-type receptor 3 (Cad	R3033H	False	False	False	False	False	Q9NYQ7_3032_H
P31644	GABRA5	300	T	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010822510822510822	Gamma-aminobutyric acid receptor subunit alpha-5 (	T301R	False	False	False	False	False	P31644_300_R
O95140	MFN2	205	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T206A	False	False	False	False	False	O95140_205_A
O95140	MFN2	212	I	N	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	I213N	False	False	False	False	False	O95140_212_N
O95140	MFN2	279	R	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R280P	False	False	False	False	False	O95140_279_P
P06753	TPM3	14	D	N	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	D15N	True	False	False	False	True	P06753_14_N
P06753	TPM3	2	E	Q	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	E3Q	True	False	False	False	True	P06753_2_Q
P68133	ACTA1	375	C	F	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	C376F	False	False	True	True	False	P68133_375_F
P68133	ACTA1	334	P	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P335R	False	False	False	False	False	P68133_334_R
P68133	ACTA1	69	K	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	K70R	False	False	False	False	False	P68133_69_R
Q99250	SCN2A	886	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V887L	False	False	False	False	False	Q99250_886_L
P35498	SCN1A	1753	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1754E	False	False	False	False	False	P35498_1753_E
P35498	SCN1A	1620	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1621P	False	False	False	False	False	P35498_1620_P
P35498	SCN1A	1475	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1476K	False	False	False	False	False	P35498_1475_K
P35498	SCN1A	895	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V896I	False	False	False	False	False	P35498_895_I
P35498	SCN1A	401	F	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F402I	False	False	False	False	False	P35498_401_I
P35498	SCN1A	276	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C277Y	False	False	True	True	False	P35498_276_Y
P28331	NDUFS1	172	M	R	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	M173R	False	False	False	False	False	P28331_172_R
Q9NYY8	FASTKD2	632	R	I	1	ClinVar	criteria provided, single submitter	0.023943661971830985	FAST kinase domain-containing protein 2, mitochond	R633I	False	False	False	False	False	Q9NYY8_632_I
P55084	HADHB	458	A	T	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	A459T	False	False	False	False	False	P55084_458_T
P53597	SUCLG1	152	V	E	1	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	V153E	False	False	False	False	False	P53597_152_E
Q96F07	CYFIP2	86	R	S	1	ClinVar	criteria provided, single submitter	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	R87S	False	False	False	False	False	Q96F07_86_S
Q5T160	RARS2	149	I	T	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	I150T	False	False	False	False	False	Q5T160_149_T
P61764	STXBP1	78	P	L	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P79L	False	False	False	False	False	P61764_78_L
P61764	STXBP1	287	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	W288R	False	False	False	False	False	P61764_287_R
P30084	ECHS1	194	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	G195S	False	False	False	False	False	P30084_194_S
P30084	ECHS1	53	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	R54H	False	False	False	False	False	P30084_53_H
P30084	ECHS1	0	M	L	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	M1L	True	False	False	False	True	P30084_0_L
P50995	ANXA11	39	D	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011881188118811881	Annexin A11 (56 kDa autoantigen) (Annexin XI) (Ann	D40Y	True	False	False	False	True	P50995_39_Y
P11498	PC	271	Q	R	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	Q272R	False	False	False	False	False	P11498_271_R
P10916	MYL2	54	A	P	1	ClinVar	criteria provided, single submitter	0.0	Myosin regulatory light chain 2, ventricular/cardi	A55P	False	False	False	False	False	P10916_54_P
O00429	DNM1L	369	F	L	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	F370L	False	False	False	False	False	O00429_369_L
O00429	DNM1L	523	L	S	0	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	L524S	False	False	False	False	False	O00429_523_S
Q9UQD0	SCN8A	409	V	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V410L	False	False	False	False	False	Q9UQD0_409_L
Q9UQD0	SCN8A	880	V	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V881L	False	False	False	False	False	Q9UQD0_880_L
Q9UQD0	SCN8A	1627	L	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1628S	False	False	False	False	False	Q9UQD0_1627_S
P12883	MYH7	806	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R807P	False	False	False	False	False	P12883_806_P
P09493	TPM1	59	Y	C	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	Y60C	False	True	False	True	False	P09493_59_C
O14647	CHD2	891	Q	R	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Q892R	False	False	False	False	False	O14647_891_R
P09471	GNAO1	47	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	T48N	True	False	False	False	True	P09471_47_N
P09471	GNAO1	150	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D151N	False	False	False	False	False	P09471_150_N
Q9NZC7	WWOX	45	H	Y	1	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	H46Y	True	False	False	False	True	Q9NZC7_45_Y
Q9UQ90	SPG7	665	G	V	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	G666V	False	False	False	False	False	Q9UQ90_665_V
O00555	CACNA1A	710	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I711V	False	False	False	False	False	O00555_710_V
Q9UM47	NOTCH3	2189	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A2190V	False	False	False	True	False	Q9UM47_2189_V
Q9UM47	NOTCH3	1014	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C1015R	False	False	True	True	False	Q9UM47_1014_R
Q9UM47	NOTCH3	531	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R532C	False	True	False	True	False	Q9UM47_531_C
P21817	RYR1	2374	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G2375R	False	False	False	False	False	P21817_2374_R
Q5TEU4	NDUFAF5	48	R	L	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	R49L	True	False	False	False	True	Q5TEU4_48_L
Q14721	KCNB1	271	P	S	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P272S	False	False	False	False	False	Q14721_271_S
Q14721	KCNB1	198	I	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I199F	False	False	False	False	False	Q14721_198_F
P12109	COL6A1	289	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G290E	False	False	False	False	False	P12109_289_E
P12110	COL6A2	300	G	C	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G301C	False	True	False	True	False	P12110_300_C
Q8TAB3	PCDH19	645	D	E	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D646E	False	False	False	False	False	Q8TAB3_645_E
Q8TAB3	PCDH19	641	V	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	V642G	False	False	False	False	False	Q8TAB3_641_G
Q8TAB3	PCDH19	480	D	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D481G	False	False	False	False	False	Q8TAB3_480_G
Q8TAB3	PCDH19	319	D	V	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D320V	False	False	False	False	False	Q8TAB3_319_V
O60220	TIMM8A	42	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.041237113402061855	Mitochondrial import inner membrane translocase su	C43R	True	False	True	True	True	O60220_42_R
O76039	CDKL5	21	G	E	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G22E	True	False	False	False	True	O76039_21_E
O76039	CDKL5	70	N	K	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N71K	False	False	False	False	False	O76039_70_K
O76039	CDKL5	563	H	R	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H564R	False	False	False	False	False	O76039_563_R
P02545	LMNA	26	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	T27I	True	False	False	False	True	P02545_26_I
O00555	CACNA1A	919	A	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A920G	False	False	False	False	False	O00555_919_G
Q9UM47	NOTCH3	1709	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G1710D	False	False	False	True	False	Q9UM47_1709_D
Q16851	UGP2	11	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005905511811023622	UTP--glucose-1-phosphate uridylyltransferase (EC 2	M12V	True	False	False	False	True	Q16851_11_V
Q8TAB3	PCDH19	653	A	P	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	A654P	False	False	False	False	False	Q8TAB3_653_P
Q8TAB3	PCDH19	639	L	R	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	L640R	False	False	False	False	False	Q8TAB3_639_R
Q8TAB3	PCDH19	557	D	H	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	D558H	False	False	False	False	False	Q8TAB3_557_H
Q8TAB3	PCDH19	259	L	R	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	L260R	False	False	False	False	False	Q8TAB3_259_R
Q8TAB3	PCDH19	200	Q	P	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	Q201P	False	False	False	False	False	Q8TAB3_200_P
Q8NI60	COQ8A	212	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R213G	False	False	False	False	False	Q8NI60_212_G
Q96BR5	COA7	191	R	C	1	ClinVar	criteria provided, single submitter	0.05627705627705628	Cytochrome c oxidase assembly factor 7 (Beta-lacta	R192C	False	True	False	True	False	Q96BR5_191_C
Q9NY46	SCN3A	1467	I	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	I1468R	False	False	False	False	False	Q9NY46_1467_R
Q96RR1	TWNK	459	A	G	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A460G	False	False	False	False	False	Q96RR1_459_G
O00429	DNM1L	363	A	D	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	A364D	False	False	False	False	False	O00429_363_D
Q9UM47	NOTCH3	577	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R578C	False	True	False	True	False	Q9UM47_577_C
P57059	SIK1	773	C	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	C774G	False	False	True	True	False	P57059_773_G
Q9UGM6	WARS2	49	G	D	1	ClinVar	criteria provided, single submitter	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	G50D	True	False	False	False	True	Q9UGM6_49_D
Q8NI60	COQ8A	337	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	A338V	False	False	False	False	False	Q8NI60_337_V
P11166	SLC2A1	411	W	G	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	W412G	False	False	False	False	False	P11166_411_G
Q99250	SCN2A	1479	K	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K1480R	False	False	False	False	False	Q99250_1479_R
P63267	ACTG2	115	N	K	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	N116K	False	False	False	False	False	P63267_115_K
Q2TBA0	KLHL40	58	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	R59P	False	False	False	False	False	Q2TBA0_58_P
Q96H96	COQ2	73	Y	N	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	Y74N	False	False	False	False	False	Q96H96_73_N
Q00577	PURA	188	A	P	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	A189P	False	False	False	False	False	Q00577_188_P
P14867	GABRA1	146	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	R147Q	False	False	False	False	False	P14867_146_Q
Q8WWV3	RTN4IP1	104	P	S	1	ClinVar	criteria provided, single submitter	0.017676767676767676	NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 	P105S	False	False	False	False	False	Q8WWV3_104_S
Q5JTZ9	AARS2	843	L	P	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	L844P	False	False	False	False	False	Q5JTZ9_843_P
P61764	STXBP1	102	H	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	H103P	False	False	False	False	False	P61764_102_P
P23378	GLDC	468	G	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G469R	False	False	False	False	False	P23378_468_R
P51530	DNA2	639	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02830188679245283	DNA replication ATP-dependent helicase/nuclease DN	S640L	False	False	False	False	False	P51530_639_L
P12883	MYH7	880	L	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L881R	False	False	False	False	False	P12883_880_R
Q9Y2Z9	COQ6	260	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	P261L	False	False	False	False	False	Q9Y2Z9_260_L
Q9Y2Z9	COQ6	359	R	L	1	ClinVar	criteria provided, single submitter	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	R360L	False	False	False	False	False	Q9Y2Z9_359_L
P54098	POLG	453	E	D	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	E454D	False	False	False	False	False	P54098_453_D
O14647	CHD2	1151	R	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1152G	False	False	False	False	False	O14647_1151_G
Q12887	COX10	220	T	A	1	ClinVar	criteria provided, single submitter	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	T221A	False	False	False	False	False	Q12887_220_A
Q9BTW9	TBCD	501	R	G	1	ClinVar	criteria provided, single submitter	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	R502G	False	False	False	False	False	Q9BTW9_501_G
Q9Y4W6	AFG3L2	688	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	Y689H	False	False	False	False	False	Q9Y4W6_688_H
Q9Y4W6	AFG3L2	372	S	R	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	S373R	False	False	False	False	False	Q9Y4W6_372_R
P21817	RYR1	228	C	R	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	C229R	False	False	True	True	False	P21817_228_R
P13637	ATP1A3	847	G	A	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G848A	False	False	False	False	False	P13637_847_A
Q9BY32	ITPA	90	F	L	1	ClinVar	criteria provided, single submitter	0.03608247422680412	Inosine triphosphate pyrophosphatase (ITPase) (Ino	F91L	False	False	False	True	False	Q9BY32_90_L
P08559	PDHA1	213	W	C	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	W214C	False	True	False	True	False	P08559_213_C
O60701	UGDH	448	H	R	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	H449R	False	False	False	False	False	O60701_448_R
O60701	UGDH	442	R	H	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	R443H	False	False	False	False	False	O60701_442_H
O60701	UGDH	441	R	W	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	R442W	False	False	False	False	False	O60701_441_W
O60701	UGDH	409	A	S	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	A410S	False	False	False	False	False	O60701_409_S
O60701	UGDH	392	R	W	1	ClinVar	criteria provided, single submitter	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	R393W	False	False	False	False	False	O60701_392_W
O60701	UGDH	366	Y	C	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	Y367C	False	True	False	True	False	O60701_366_C
O60701	UGDH	305	M	V	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	M306V	False	False	False	False	False	O60701_305_V
O60701	UGDH	302	V	I	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	V303I	False	False	False	False	False	O60701_302_I
O60701	UGDH	270	G	R	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	G271R	False	False	False	False	False	O60701_270_R
O60701	UGDH	254	I	T	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	I255T	False	False	False	False	False	O60701_254_T
O60701	UGDH	216	E	D	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	E217D	False	False	False	False	False	O60701_216_D
O60701	UGDH	174	P	A	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	P175A	False	False	False	False	False	O60701_174_A
O60701	UGDH	124	I	T	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	I125T	False	False	False	False	False	O60701_124_T
O60701	UGDH	81	A	T	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	A82T	False	False	False	False	False	O60701_81_T
O60701	UGDH	71	S	A	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	S72A	False	False	False	False	False	O60701_71_A
O60701	UGDH	43	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	A44V	True	False	False	False	True	O60701_43_V
O60701	UGDH	41	I	T	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	I42T	True	False	False	False	True	O60701_41_T
O60701	UGDH	23	A	T	1	ClinVar	no assertion criteria provided	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	A24T	True	False	False	False	True	O60701_23_T
Q9UM47	NOTCH3	426	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R427C	False	True	False	True	False	Q9UM47_426_C
Q9UM47	NOTCH3	173	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C174R	False	False	True	True	False	Q9UM47_173_R
Q9UM47	NOTCH3	105	C	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C106G	False	False	True	True	False	Q9UM47_105_G
Q96RP9	GFM1	515	C	R	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	C516R	False	False	True	True	False	Q96RP9_515_R
Q96RP9	GFM1	523	A	V	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	A524V	False	False	False	False	False	Q96RP9_523_V
Q96RP9	GFM1	640	A	E	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	A641E	False	False	False	False	False	Q96RP9_640_E
O43526	KCNQ2	316	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A317T	False	False	False	False	False	O43526_316_T
Q00577	PURA	259	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	P260R	False	False	False	False	False	Q00577_259_R
O14647	CHD2	1151	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1152W	False	False	False	False	False	O14647_1151_W
Q08209	PPP3CA	492	D	N	1	ClinVar	criteria provided, single submitter	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	D493N	False	False	False	False	False	Q08209_492_N
O43526	KCNQ2	208	I	T	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I209T	False	False	False	False	False	O43526_208_T
O00764	PDXK	74	N	K	1	ClinVar	criteria provided, single submitter	0.01282051282051282	Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)	N75K	False	False	False	False	False	O00764_74_K
Q96QS3	ARX	481	G	S	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	G482S	False	False	False	False	False	Q96QS3_481_S
Q06413	MEF2C	21	T	R	1	ClinVar	no assertion criteria provided	0.012684989429175475	Myocyte-specific enhancer factor 2C (Myocyte enhan	T22R	True	False	False	False	True	Q06413_21_R
Q96MP8	KCTD7	113	G	W	1	ClinVar	no assertion criteria provided	0.02768166089965398	BTB/POZ domain-containing protein KCTD7	G114W	False	False	False	False	False	Q96MP8_113_W
P61764	STXBP1	405	R	G	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R406G	False	False	False	False	False	P61764_405_G
P11498	PC	768	H	L	1	ClinVar	no assertion criteria provided	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	H769L	False	False	False	False	False	P11498_768_L
Q9UQD0	SCN8A	1640	L	R	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1641R	False	False	False	False	False	Q9UQD0_1640_R
P28472	GABRB3	283	L	R	1	ClinVar	no assertion criteria provided	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L284R	False	False	False	False	False	P28472_283_R
Q86YT5	SLC13A5	110	L	R	1	ClinVar	no assertion criteria provided	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	L111R	False	False	False	False	False	Q86YT5_110_R
O43526	KCNQ2	281	D	V	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D282V	False	False	False	False	False	O43526_281_V
O43526	KCNQ2	196	L	P	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L197P	False	False	False	False	False	O43526_196_P
O95298	NDUFC2	57	H	L	1	ClinVar	criteria provided, single submitter	0.008403361344537815	NADH dehydrogenase [ubiquinone] 1 subunit C2 (Comp	H58L	False	False	False	False	False	O95298_57_L
Q99714	HSD17B10	172	G	R	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	G173R	False	False	False	False	False	Q99714_172_R
Q9UJS0	SLC25A13	410	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	V411M	False	False	False	False	False	Q9UJS0_410_M
Q99250	SCN2A	1871	M	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1872I	False	False	False	False	False	Q99250_1871_I
P14867	GABRA1	262	M	V	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	M263V	False	False	False	False	False	P14867_262_V
P10589	NR2F1	150	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	M151T	False	False	False	True	False	P10589_150_T
P61764	STXBP1	40	L	Q	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L41Q	True	False	False	False	True	P61764_40_Q
Q9UQD0	SCN8A	1864	L	P	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1865P	False	False	False	False	False	Q9UQD0_1864_P
O14647	CHD2	870	G	D	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G871D	False	False	False	False	False	O14647_870_D
P09471	GNAO1	169	P	R	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	P170R	False	False	False	False	False	P09471_169_R
Q9NZC7	WWOX	229	Q	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	Q230P	False	False	False	False	False	Q9NZC7_229_P
O43526	KCNQ2	554	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F555L	False	False	False	False	False	O43526_554_L
O43526	KCNQ2	246	S	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S247P	False	False	False	False	False	O43526_246_P
O43526	KCNQ2	216	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T217I	False	False	False	False	False	O43526_216_I
O76039	CDKL5	44	K	N	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	K45N	True	False	False	False	True	O76039_44_N
Q9UQD0	SCN8A	1469	Q	K	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Q1470K	False	False	False	False	False	Q9UQD0_1469_K
Q16740	CLPP	77	R	P	1	ClinVar	criteria provided, single submitter	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	R78P	False	False	False	False	False	Q16740_77_P
P40939	HADHA	179	P	L	1	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	P180L	False	False	False	False	False	P40939_179_L
P10809	HSPD1	46	L	V	1	ClinVar	no assertion criteria provided	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	L47V	True	False	False	False	True	P10809_46_V
O14647	CHD2	936	H	D	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	H937D	False	False	False	False	False	O14647_936_D
Q53S33	BOLA3	66	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009345794392523364	BolA-like protein 3	I67N	False	False	False	False	False	Q53S33_66_N
Q99250	SCN2A	772	T	A	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T773A	False	False	False	False	False	Q99250_772_A
P08559	PDHA1	353	T	P	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T354P	False	False	False	True	False	P08559_353_P
P21912	SDHB	242	C	F	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C243F	False	False	True	True	False	P21912_242_F
P21912	SDHB	73	D	V	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	D74V	False	False	False	True	False	P21912_73_V
Q99250	SCN2A	54	D	A	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D55A	False	False	False	False	False	Q99250_54_A
P10589	NR2F1	150	M	I	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	M151I	False	False	False	True	False	P10589_150_I
Q05193	DNM1	143	P	L	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	P144L	False	False	False	False	False	Q05193_143_L
Q13224	GRIN2B	851	G	A	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G852A	False	False	False	False	False	Q13224_851_A
P36776	LONP1	938	Y	H	1	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	Y939H	False	False	False	False	False	P36776_938_H
Q9BQT8	SLC25A21	231	K	R	1	ClinVar	no assertion criteria provided	0.010033444816053512	Mitochondrial 2-oxodicarboxylate carrier (ODC) (Mi	K232R	False	False	False	False	False	Q9BQT8_231_R
Q13224	GRIN2B	606	W	S	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	W607S	False	False	False	False	False	Q13224_606_S
Q99250	SCN2A	1547	M	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1548I	False	False	False	False	False	Q99250_1547_I
Q8NI60	COQ8A	278	Q	P	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	Q279P	False	False	False	False	False	Q8NI60_278_P
Q7LG56	RRM2B	42	V	D	1	ClinVar	criteria provided, single submitter	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	V43D	True	False	False	False	True	Q7LG56_42_D
Q05639	EEF1A2	431	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	T432M	False	False	False	False	False	Q05639_431_M
Q05639	EEF1A2	97	F	C	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	F98C	False	True	False	True	False	Q05639_97_C
P16389	KCNA2	459	E	D	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	E460D	False	False	False	False	False	P16389_459_D
Q99250	SCN2A	11	D	E	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D12E	True	False	False	False	True	Q99250_11_E
P47870	GABRB2	353	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	R354H	False	False	False	False	False	P47870_353_H
O60741	HCN1	851	P	Q	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P852Q	False	False	False	False	False	O60741_851_Q
O60741	HCN1	726	L	M	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	L727M	False	False	False	False	False	O60741_726_M
O60741	HCN1	719	A	D	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A720D	False	False	False	False	False	O60741_719_D
O60741	HCN1	395	L	I	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	L396I	False	False	False	False	False	O60741_395_I
O60741	HCN1	364	A	V	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A365V	False	False	False	False	False	O60741_364_V
P61764	STXBP1	100	A	V	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A101V	False	False	False	False	False	P61764_100_V
P61764	STXBP1	159	H	N	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	H160N	False	False	False	False	False	P61764_159_N
P61764	STXBP1	259	E	K	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	E260K	False	False	False	False	False	P61764_259_K
P61764	STXBP1	371	L	M	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L372M	False	False	False	False	False	P61764_371_M
P61764	STXBP1	463	R	W	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R464W	False	False	False	False	False	P61764_463_W
P61764	STXBP1	514	V	I	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V515I	False	False	False	False	False	P61764_514_I
Q05193	DNM1	199	T	I	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	T200I	False	False	False	False	False	Q05193_199_I
Q05193	DNM1	629	V	A	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	V630A	False	False	False	False	False	Q05193_629_A
Q05193	DNM1	644	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	D645N	False	False	False	False	False	Q05193_644_N
Q05193	DNM1	718	A	G	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	A719G	False	False	False	False	False	Q05193_718_G
Q13813	SPTAN1	63	L	I	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	L64I	False	False	False	False	False	Q13813_63_I
Q13813	SPTAN1	355	R	W	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R356W	False	False	False	False	False	Q13813_355_W
Q13813	SPTAN1	395	A	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A396T	False	False	False	False	False	Q13813_395_T
Q13813	SPTAN1	466	M	V	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M467V	False	False	False	False	False	Q13813_466_V
Q13813	SPTAN1	589	N	S	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	N590S	False	False	False	False	False	Q13813_589_S
Q13813	SPTAN1	1073	H	N	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	H1074N	False	False	False	False	False	Q13813_1073_N
Q13813	SPTAN1	1272	R	C	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R1273C	False	True	False	True	False	Q13813_1272_C
Q13813	SPTAN1	1391	A	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A1392T	False	False	False	False	False	Q13813_1391_T
Q5JUK3	KCNT1	18	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	G19S	True	False	False	False	True	Q5JUK3_18_S
O75899	GABBR2	872	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R873Q	False	False	False	False	False	O75899_872_Q
O75899	GABBR2	851	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A852T	False	False	False	False	False	O75899_851_T
O75899	GABBR2	765	Q	E	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	Q766E	False	False	False	False	False	O75899_765_E
O75899	GABBR2	754	T	M	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T755M	False	False	False	False	False	O75899_754_M
O75899	GABBR2	594	Q	R	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	Q595R	False	False	False	False	False	O75899_594_R
O75899	GABBR2	506	R	Q	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R507Q	False	False	False	False	False	O75899_506_Q
O75899	GABBR2	393	T	M	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T394M	False	False	False	False	False	O75899_393_M
O75899	GABBR2	93	L	M	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	L94M	False	False	False	False	False	O75899_93_M
Q13224	GRIN2B	1129	R	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1130L	False	False	False	False	False	Q13224_1129_L
Q13224	GRIN2B	1084	Y	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	Y1085H	False	False	False	False	False	Q13224_1084_H
Q13224	GRIN2B	882	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V883A	False	False	False	False	False	Q13224_882_A
Q13224	GRIN2B	774	Q	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	Q775H	False	False	False	False	False	Q13224_774_H
Q13224	GRIN2B	290	A	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A291T	False	False	False	False	False	Q13224_290_T
Q13224	GRIN2B	92	K	R	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	K93R	False	False	False	False	False	Q13224_92_R
Q9UQD0	SCN8A	555	L	V	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L556V	False	False	False	False	False	Q9UQD0_555_V
Q9UQD0	SCN8A	632	L	V	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L633V	False	False	False	False	False	Q9UQD0_632_V
Q9UQD0	SCN8A	719	P	L	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	P720L	False	False	False	False	False	Q9UQD0_719_L
Q9UQD0	SCN8A	1106	N	H	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1107H	False	False	False	False	False	Q9UQD0_1106_H
Q9UQD0	SCN8A	1228	R	H	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1229H	False	False	False	False	False	Q9UQD0_1228_H
Q9UQD0	SCN8A	1505	R	H	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1506H	False	False	False	False	False	Q9UQD0_1505_H
Q9UQD0	SCN8A	1648	P	H	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	P1649H	False	False	False	False	False	Q9UQD0_1648_H
Q9UQD0	SCN8A	1873	V	G	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1874G	False	False	False	False	False	Q9UQD0_1873_G
C9JR72	KBTBD13	408	M	T	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	M409T	False	False	False	True	False	C9JR72_408_T
O14647	CHD2	225	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A226V	False	False	False	False	False	O14647_225_V
O14647	CHD2	1336	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A1337S	False	False	False	False	False	O14647_1336_S
O14647	CHD2	1440	S	A	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1441A	False	False	False	False	False	O14647_1440_A
O14647	CHD2	1574	G	A	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1575A	False	False	False	False	False	O14647_1574_A
O14647	CHD2	1652	N	S	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N1653S	False	False	False	False	False	O14647_1652_S
O14647	CHD2	1694	S	P	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1695P	False	False	False	False	False	O14647_1694_P
O14647	CHD2	1701	Q	E	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Q1702E	False	False	False	False	False	O14647_1701_E
Q14721	KCNB1	823	G	D	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G824D	False	False	False	False	False	Q14721_823_D
Q14721	KCNB1	818	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A819T	False	False	False	False	False	Q14721_818_T
Q14721	KCNB1	805	P	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P806L	False	False	False	False	False	Q14721_805_L
Q14721	KCNB1	787	T	M	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T788M	False	False	False	False	False	Q14721_787_M
Q14721	KCNB1	686	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V687I	False	False	False	False	False	Q14721_686_I
Q14721	KCNB1	626	R	W	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R627W	False	False	False	False	False	Q14721_626_W
Q14721	KCNB1	615	T	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T616I	False	False	False	False	False	Q14721_615_I
Q14721	KCNB1	540	S	Y	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S541Y	False	False	False	False	False	Q14721_540_Y
Q14721	KCNB1	532	Y	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	Y533H	False	False	False	False	False	Q14721_532_H
Q14721	KCNB1	447	M	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	M448I	False	False	False	False	False	Q14721_447_I
Q14721	KCNB1	1	P	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P2S	True	False	False	False	True	Q14721_1_S
P57059	SIK1	740	L	R	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	L741R	False	False	False	False	False	P57059_740_R
P57059	SIK1	579	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	T580I	False	False	False	False	False	P57059_579_I
P57059	SIK1	491	S	F	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	S492F	False	False	False	False	False	P57059_491_F
P57059	SIK1	487	C	G	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	C488G	False	False	True	True	False	P57059_487_G
P57059	SIK1	474	A	V	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A475V	False	False	False	False	False	P57059_474_V
P57059	SIK1	433	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	V434M	False	False	False	False	False	P57059_433_M
P57059	SIK1	381	D	N	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	D382N	False	False	False	False	False	P57059_381_N
P57059	SIK1	353	A	T	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A354T	False	False	False	False	False	P57059_353_T
P57059	SIK1	284	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P285L	False	False	False	False	False	P57059_284_L
P57059	SIK1	249	D	E	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	D250E	False	False	False	False	False	P57059_249_E
P57059	SIK1	141	D	H	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	D142H	False	False	False	False	False	P57059_141_H
P57059	SIK1	126	R	W	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	R127W	False	False	False	False	False	P57059_126_W
P57059	SIK1	125	A	V	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A126V	False	False	False	False	False	P57059_125_V
P12110	COL6A2	751	V	I	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	V752I	False	False	False	False	False	P12110_751_I
Q9NP73	ALG13	184	L	R	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	L185R	False	False	False	False	False	Q9NP73_184_R
Q9NP73	ALG13	833	T	A	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	T834A	False	False	False	False	False	Q9NP73_833_A
O76039	CDKL5	241	P	T	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P242T	False	False	False	False	False	O76039_241_T
O76039	CDKL5	329	G	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G330S	False	False	False	False	False	O76039_329_S
O43307	ARHGEF9	381	D	N	0	ClinVar	criteria provided, single submitter	0.01937984496124031	Rho guanine nucleotide exchange factor 9 (Collybis	D382N	False	False	False	False	False	O43307_381_N
P35498	SCN1A	306	E	K	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E307K	False	False	False	False	False	P35498_306_K
P35498	SCN1A	629	R	W	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R630W	False	False	False	False	False	P35498_629_W
P35498	SCN1A	1900	V	I	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1901I	False	False	False	False	False	P35498_1900_I
P13073	COX4I1	151	P	T	1	ClinVar	no assertion criteria provided	0.005917159763313609	Cytochrome c oxidase subunit 4 isoform 1, mitochon	P152T	False	False	False	False	False	P13073_151_T
P16389	KCNA2	407	V	G	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	V408G	False	False	False	False	False	P16389_407_G
P16389	KCNA2	353	R	Q	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R354Q	False	False	False	False	False	P16389_353_Q
O95140	MFN2	209	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	D210G	False	False	False	False	False	O95140_209_G
O95140	MFN2	219	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A220T	False	False	False	False	False	O95140_219_T
O95140	MFN2	243	V	G	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V244G	False	False	False	False	False	O95140_243_G
O95140	MFN2	360	H	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H361Q	False	False	False	False	False	O95140_360_Q
O95140	MFN2	381	A	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A382V	False	False	False	False	False	O95140_381_V
Q99643	SDHC	126	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	H127Y	False	False	False	False	False	Q99643_126_Y
P21912	SDHB	196	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	P197S	False	False	False	True	False	P21912_196_S
Q13698	CACNA1S	527	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	R528C	False	True	False	True	False	Q13698_527_C
P68133	ACTA1	280	Y	C	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Y281C	False	True	False	True	False	P68133_280_C
P68133	ACTA1	255	R	H	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R256H	False	False	False	False	False	P68133_255_H
P68133	ACTA1	142	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	S143P	False	False	False	False	False	P68133_142_P
P68133	ACTA1	47	G	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G48V	True	False	False	False	True	P68133_47_V
P68133	ACTA1	42	Q	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Q43R	True	False	False	False	True	P68133_42_R
P35609	ACTN2	246	T	M	1	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	T247M	False	False	False	False	False	P35609_246_M
P35609	ACTN2	461	A	T	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A462T	False	False	False	False	False	P35609_461_T
Q00839	HNRNPU	430	A	G	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A431G	False	False	False	False	False	Q00839_430_G
Q00839	HNRNPU	180	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K181R	False	False	False	False	False	Q00839_180_R
Q00839	HNRNPU	168	Q	H	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	Q169H	False	False	False	False	False	Q00839_168_H
P23786	CPT2	66	A	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	A67G	False	False	False	False	False	P23786_66_G
P23786	CPT2	604	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	V605L	False	False	False	False	False	P23786_604_L
P20929	NEB	7729	N	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N7730S	False	False	False	False	False	P20929_7729_S
P20929	NEB	7371	T	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T7372P	False	False	False	False	False	P20929_7371_P
P20929	NEB	6786	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T6787I	False	False	False	False	False	P20929_6786_I
P20929	NEB	3995	S	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S3996R	False	False	False	False	False	P20929_3995_R
P20929	NEB	3947	S	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S3948F	False	False	False	False	False	P20929_3947_F
P20929	NEB	2660	W	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	W2661C	False	True	False	True	False	P20929_2660_C
P20929	NEB	2271	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y2272C	False	True	False	True	False	P20929_2271_C
P20929	NEB	2078	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R2079C	False	True	False	True	False	P20929_2078_C
P20929	NEB	1942	L	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L1943Q	False	False	False	False	False	P20929_1942_Q
P20929	NEB	1646	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1647T	False	False	False	False	False	P20929_1646_T
Q99250	SCN2A	214	A	T	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A215T	False	False	False	False	False	Q99250_214_T
Q99250	SCN2A	297	N	D	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N298D	False	False	False	False	False	Q99250_297_D
Q99250	SCN2A	983	S	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S984G	False	False	False	False	False	Q99250_983_G
Q99250	SCN2A	1176	R	P	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1177P	False	False	False	False	False	Q99250_1176_P
Q99250	SCN2A	1188	G	D	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1189D	False	False	False	False	False	Q99250_1188_D
Q99250	SCN2A	1211	T	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T1212P	False	False	False	False	False	Q99250_1211_P
Q99250	SCN2A	1309	A	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1310P	False	False	False	False	False	Q99250_1309_P
Q99250	SCN2A	1374	F	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F1375V	False	False	False	False	False	Q99250_1374_V
Q99250	SCN2A	1477	Q	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1478E	False	False	False	False	False	Q99250_1477_E
Q99250	SCN2A	1581	L	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1582P	False	False	False	False	False	Q99250_1581_P
Q99250	SCN2A	1626	V	A	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1627A	False	False	False	False	False	Q99250_1626_A
Q99250	SCN2A	1628	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1629C	False	True	False	True	False	Q99250_1628_C
Q99250	SCN2A	1639	I	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1640F	False	False	False	False	False	Q99250_1639_F
Q99250	SCN2A	1889	K	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K1890N	False	False	False	False	False	Q99250_1889_N
P12111	COL6A3	2998	E	G	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E2999G	False	False	False	False	False	P12111_2998_G
P12111	COL6A3	2762	K	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	K2763N	False	False	False	False	False	P12111_2762_N
P12111	COL6A3	2654	P	A	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P2655A	False	False	False	False	False	P12111_2654_A
P12111	COL6A3	2623	L	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	L2624V	False	False	False	False	False	P12111_2623_V
P12111	COL6A3	2286	R	W	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R2287W	False	False	False	False	False	P12111_2286_W
P12111	COL6A3	1914	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R1915Q	False	False	False	False	False	P12111_1914_Q
P12111	COL6A3	1848	Q	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	Q1849H	False	False	False	False	False	P12111_1848_H
P12111	COL6A3	1504	R	C	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1505C	False	True	False	True	False	P12111_1504_C
Q9H845	ACAD9	517	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R518H	False	False	False	False	False	Q9H845_517_H
P05166	PCCB	249	H	R	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	H250R	False	False	False	False	False	P05166_249_R
P05166	PCCB	436	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G437S	False	False	False	False	False	P05166_436_S
P05166	PCCB	511	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R512H	False	False	False	False	False	P05166_511_H
Q2TBA0	KLHL40	505	T	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	T506P	False	False	False	False	False	Q2TBA0_505_P
P11177	PDHB	100	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	M101V	False	False	False	False	False	P11177_100_V
Q00577	PURA	23	P	S	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	P24S	True	False	False	False	True	Q00577_23_S
Q00577	PURA	51	G	V	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G52V	False	False	False	False	False	Q00577_51_V
Q00577	PURA	92	A	V	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	A93V	False	False	False	False	False	Q00577_92_V
Q00577	PURA	172	T	A	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	T173A	False	False	False	False	False	Q00577_172_A
O60741	HCN1	656	T	A	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	T657A	False	False	False	False	False	O60741_656_A
O60741	HCN1	60	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	V61L	False	False	False	False	False	O60741_60_L
O95363	FARS2	281	H	Q	0	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	H282Q	False	False	False	False	False	O95363_281_Q
Q99715	COL12A1	1521	R	G	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R1522G	False	False	False	False	False	Q99715_1521_G
Q99715	COL12A1	1407	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P1408L	False	False	False	False	False	Q99715_1407_L
Q99715	COL12A1	762	G	E	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G763E	False	False	False	False	False	Q99715_762_E
Q99715	COL12A1	335	P	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P336S	False	False	False	False	False	Q99715_335_S
Q99715	COL12A1	297	N	H	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	N298H	False	False	False	False	False	Q99715_297_H
P15924	DSP	639	I	T	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I640T	False	False	False	False	False	P15924_639_T
P15924	DSP	961	E	D	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E962D	False	False	False	False	False	P15924_961_D
P15924	DSP	2074	R	Q	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R2075Q	False	False	False	False	False	P15924_2074_Q
Q9NZV8	KCND2	472	S	T	0	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	S473T	False	False	False	False	False	Q9NZV8_472_T
Q14315	FLNC	1149	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1150Q	False	False	False	False	False	Q14315_1149_Q
Q14315	FLNC	1574	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T1575S	False	False	False	False	False	Q14315_1574_S
Q14315	FLNC	2447	S	L	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	S2448L	False	False	False	False	False	Q14315_2447_L
Q9UJS0	SLC25A13	349	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	D350N	False	False	False	False	False	Q9UJS0_349_N
P61764	STXBP1	32	V	E	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V33E	True	False	False	False	True	P61764_32_E
P61764	STXBP1	346	H	D	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	H347D	False	False	False	False	False	P61764_346_D
Q05193	DNM1	274	P	L	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	P275L	False	False	False	False	False	Q05193_274_L
Q05193	DNM1	360	R	G	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R361G	False	False	False	False	False	Q05193_360_G
Q05193	DNM1	522	K	R	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	K523R	False	False	False	False	False	Q05193_522_R
Q13813	SPTAN1	27	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R28C	True	True	False	True	True	Q13813_27_C
P55072	VCP	215	I	M	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	I216M	False	False	False	False	False	P55072_215_M
Q9Y223	GNE	674	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	Y675H	False	False	False	False	False	Q9Y223_674_H
P23378	GLDC	918	F	I	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	F919I	False	False	False	False	False	P23378_918_I
P23378	GLDC	346	R	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R347S	False	False	False	False	False	P23378_346_S
O75899	GABBR2	7	G	A	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	G8A	True	False	False	False	True	O75899_7_A
Q5T481	RBM20	391	R	W	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R392W	False	False	False	False	False	Q5T481_391_W
Q5T481	RBM20	1200	G	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G1201S	False	False	False	False	False	Q5T481_1200_S
O95817	BAG3	469	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0052173913043478265	BAG family molecular chaperone regulator 3 (BAG-3)	P470S	False	False	False	False	False	O95817_469_S
O14521	SDHD	101	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	H102Y	False	False	False	True	False	O14521_101_Y
Q13224	GRIN2B	1458	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N1459D	False	False	False	False	False	Q13224_1458_D
Q13224	GRIN2B	1440	R	C	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1441C	False	True	False	True	False	Q13224_1440_C
Q13224	GRIN2B	1409	T	R	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T1410R	False	False	False	False	False	Q13224_1409_R
Q13224	GRIN2B	1343	A	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1344V	False	False	False	False	False	Q13224_1343_V
Q13224	GRIN2B	1228	V	M	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V1229M	False	False	False	False	False	Q13224_1228_M
Q13224	GRIN2B	826	A	E	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A827E	False	False	False	False	False	Q13224_826_E
Q13224	GRIN2B	615	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N616S	False	False	False	False	False	Q13224_615_S
Q13224	GRIN2B	439	I	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I440V	False	False	False	False	False	Q13224_439_V
Q13224	GRIN2B	289	P	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P290S	False	False	False	False	False	Q13224_289_S
Q9UQD0	SCN8A	254	M	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M255I	False	False	False	False	False	Q9UQD0_254_I
Q9UQD0	SCN8A	368	Q	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Q369L	False	False	False	False	False	Q9UQD0_368_L
Q9UQD0	SCN8A	540	S	A	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S541A	False	False	False	False	False	Q9UQD0_540_A
Q9UQD0	SCN8A	1649	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1650S	False	False	False	False	False	Q9UQD0_1649_S
Q9UQD0	SCN8A	1879	K	N	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	K1880N	False	False	False	False	False	Q9UQD0_1879_N
P13533	MYH6	414	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	G415R	False	False	False	False	False	P13533_414_R
P12883	MYH7	1433	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1434P	False	False	False	False	False	P12883_1433_P
P12883	MYH7	924	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R925G	False	False	False	False	False	P12883_924_G
P12883	MYH7	711	R	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R712S	False	False	False	False	False	P12883_711_S
P12883	MYH7	214	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T215I	False	False	False	False	False	P12883_214_I
Q8NCM2	KCNH5	786	N	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	N787S	False	False	False	False	False	Q8NCM2_786_S
Q8NCM2	KCNH5	504	V	I	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	V505I	False	False	False	False	False	Q8NCM2_504_I
Q8NCM2	KCNH5	157	N	K	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	N158K	False	False	False	False	False	Q8NCM2_157_K
P28472	GABRB3	301	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	Y302C	False	True	False	True	False	P28472_301_C
C9JR72	KBTBD13	66	G	R	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	G67R	False	False	False	True	False	C9JR72_66_R
C9JR72	KBTBD13	406	N	S	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	N407S	False	False	False	True	False	C9JR72_406_S
O14647	CHD2	391	T	A	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T392A	False	False	False	False	False	O14647_391_A
O14647	CHD2	1692	N	S	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N1693S	False	False	False	False	False	O14647_1692_S
Q9ULP9	TBC1D24	39	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R40H	True	False	False	True	True	Q9ULP9_39_H
Q9ULP9	TBC1D24	131	P	S	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	P132S	False	False	False	True	False	Q9ULP9_131_S
P09471	GNAO1	272	D	V	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D273V	False	False	False	False	False	P09471_272_V
Q14126	DSG2	45	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	R46W	True	False	False	False	True	Q14126_45_W
O00555	CACNA1A	2194	R	W	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2195W	False	False	False	False	False	O00555_2194_W
O00555	CACNA1A	1677	R	H	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1678H	False	False	False	False	False	O00555_1677_H
O00555	CACNA1A	84	N	S	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	N85S	False	False	False	False	False	O00555_84_S
O00555	CACNA1A	24	V	G	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V25G	True	False	False	False	True	O00555_24_G
Q14721	KCNB1	749	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A750V	False	False	False	False	False	Q14721_749_V
Q14721	KCNB1	617	G	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G618V	False	False	False	False	False	Q14721_617_V
O43526	KCNQ2	562	D	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D563G	False	False	False	False	False	O43526_562_G
O43526	KCNQ2	340	Q	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Q341H	False	False	False	False	False	O43526_340_H
O43526	KCNQ2	269	W	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W270C	False	True	False	True	False	O43526_269_C
O43526	KCNQ2	265	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D266G	False	False	False	False	False	O43526_265_G
O43526	KCNQ2	222	S	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S223P	False	False	False	False	False	O43526_222_P
Q05639	EEF1A2	37	T	I	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	T38I	True	False	False	False	True	Q05639_37_I
Q9NQ66	PLCB1	22	K	E	0	ClinVar	criteria provided, single submitter	0.012335526315789474	1-phosphatidylinositol 4,5-bisphosphate phosphodie	K23E	True	False	False	False	True	Q9NQ66_22_E
P57059	SIK1	739	A	T	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A740T	False	False	False	False	False	P57059_739_T
P57059	SIK1	531	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A532T	False	False	False	False	False	P57059_531_T
P57059	SIK1	517	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A518P	False	False	False	False	False	P57059_517_P
P57059	SIK1	517	A	T	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A518T	False	False	False	False	False	P57059_517_T
P57059	SIK1	390	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	P391L	False	False	False	False	False	P57059_390_L
P57059	SIK1	30	R	G	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	R31G	True	False	False	False	True	P57059_30_G
P12109	COL6A1	113	K	E	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	K114E	False	False	False	False	False	P12109_113_E
P12109	COL6A1	298	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G299R	False	False	False	False	False	P12109_298_R
P12109	COL6A1	324	R	C	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R325C	False	True	False	True	False	P12109_324_C
P12109	COL6A1	331	G	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G332S	False	False	False	False	False	P12109_331_S
P12109	COL6A1	747	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G748S	False	False	False	False	False	P12109_747_S
P12109	COL6A1	797	E	D	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E798D	False	False	False	False	False	P12109_797_D
P12109	COL6A1	924	R	C	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R925C	False	True	False	True	False	P12109_924_C
P12110	COL6A2	154	H	R	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	H155R	False	False	False	False	False	P12110_154_R
P12110	COL6A2	264	G	E	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G265E	False	False	False	False	False	P12110_264_E
Q15049	MLC1	117	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	T118M	False	False	False	False	False	Q15049_117_M
Q8TAB3	PCDH19	376	D	H	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D377H	False	False	False	False	False	Q8TAB3_376_H
Q8TAB3	PCDH19	373	S	P	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	S374P	False	False	False	False	False	Q8TAB3_373_P
Q8TAB3	PCDH19	263	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	D264H	False	False	False	False	False	Q8TAB3_263_H
Q8TAB3	PCDH19	233	N	D	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	N234D	False	False	False	False	False	Q8TAB3_233_D
Q8TAB3	PCDH19	126	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P127S	False	False	False	False	False	Q8TAB3_126_S
O95831	AIFM1	544	P	S	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P545S	False	False	False	False	False	O95831_544_S
O95831	AIFM1	323	R	Q	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	R324Q	False	False	False	False	False	O95831_323_Q
Q13496	MTM1	242	S	N	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	S243N	False	False	False	False	False	Q13496_242_N
Q13496	MTM1	403	E	D	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	E404D	False	False	False	False	False	Q13496_403_D
O76039	CDKL5	19	G	S	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G20S	True	False	False	False	True	O76039_19_S
O76039	CDKL5	38	V	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V39G	True	False	False	False	True	O76039_38_G
O76039	CDKL5	135	I	M	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	I136M	False	False	False	False	False	O76039_135_M
O76039	CDKL5	139	N	K	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N140K	False	False	False	False	False	O76039_139_K
O76039	CDKL5	202	E	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E203G	False	False	False	False	False	O76039_202_G
O76039	CDKL5	460	N	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N461I	False	False	False	False	False	O76039_460_I
P08559	PDHA1	228	M	I	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M229I	False	False	False	True	False	P08559_228_I
Q96QS3	ARX	277	A	T	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	A278T	False	False	False	False	False	Q96QS3_277_T
P11532	DMD	3636	S	L	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	S3637L	False	False	False	False	False	P11532_3636_L
P11532	DMD	3565	R	C	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	R3566C	False	True	False	True	False	P11532_3565_C
P11532	DMD	3415	W	C	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	W3416C	False	True	False	True	False	P11532_3415_C
P11532	DMD	2509	I	V	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	I2510V	False	False	False	False	False	P11532_2509_V
P11532	DMD	2364	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V2365I	False	False	False	False	False	P11532_2364_I
P11532	DMD	1872	L	V	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	L1873V	False	False	False	False	False	P11532_1872_V
P11532	DMD	606	K	Q	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	K607Q	False	False	False	False	False	P11532_606_Q
Q14683	SMC1A	495	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	R496C	False	True	False	True	False	Q14683_495_C
P35498	SCN1A	262	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L263P	False	False	False	False	False	P35498_262_P
P35498	SCN1A	324	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y325C	False	True	False	True	False	P35498_324_C
P35498	SCN1A	336	G	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G337A	False	False	False	False	False	P35498_336_A
P35498	SCN1A	377	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L378P	False	False	False	False	False	P35498_377_P
P35498	SCN1A	381	D	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D382N	False	False	False	False	False	P35498_381_N
P35498	SCN1A	384	E	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E385A	False	False	False	False	False	P35498_384_A
P35498	SCN1A	406	I	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I407N	False	False	False	False	False	P35498_406_N
P35498	SCN1A	787	E	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E788V	False	False	False	False	False	P35498_787_V
P35498	SCN1A	930	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R931L	False	False	False	False	False	P35498_930_L
P35498	SCN1A	944	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F945L	False	False	False	False	False	P35498_944_L
P35498	SCN1A	967	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C968Y	False	False	True	True	False	P35498_967_Y
P35498	SCN1A	989	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L990F	False	False	False	False	False	P35498_989_F
P35498	SCN1A	990	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L991F	False	False	False	False	False	P35498_990_F
P35498	SCN1A	1123	F	L	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1124L	False	False	False	False	False	P35498_1123_L
P35498	SCN1A	1308	L	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1309H	False	False	False	False	False	P35498_1308_H
P35498	SCN1A	1346	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1347T	False	False	False	False	False	P35498_1346_T
P35498	SCN1A	1349	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1350M	False	False	False	False	False	P35498_1349_M
P35498	SCN1A	1414	F	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1415S	False	False	False	False	False	P35498_1414_S
P35498	SCN1A	1431	K	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	K1432I	False	False	False	False	False	P35498_1431_I
P35498	SCN1A	1450	P	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1451R	False	False	False	False	False	P35498_1450_R
P35498	SCN1A	1452	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1453C	False	True	False	True	False	P35498_1452_C
P35498	SCN1A	1503	Q	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1504K	False	False	False	False	False	P35498_1503_K
P35498	SCN1A	1657	T	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1658K	False	False	False	False	False	P35498_1657_K
P35498	SCN1A	1703	M	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1704T	False	False	False	False	False	P35498_1703_T
P35498	SCN1A	1718	Q	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1719H	False	False	False	False	False	P35498_1718_H
P35498	SCN1A	1726	D	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1727Y	False	False	False	False	False	P35498_1726_Y
P35498	SCN1A	1727	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1728R	False	False	False	False	False	P35498_1727_R
P35498	SCN1A	1738	P	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1739R	False	False	False	False	False	P35498_1738_R
P35498	SCN1A	1770	I	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1771S	False	False	False	False	False	P35498_1770_S
P35498	SCN1A	1814	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1815L	False	False	False	False	False	P35498_1814_L
P35498	SCN1A	1814	F	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1815S	False	False	False	False	False	P35498_1814_S
P35498	SCN1A	1918	A	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1919G	False	False	False	False	False	P35498_1918_G
P35498	SCN1A	93	N	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N94Y	False	False	False	False	False	P35498_93_Y
P35498	SCN1A	112	P	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P113L	False	False	False	False	False	P35498_112_L
P35498	SCN1A	138	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L139F	False	False	False	False	False	P35498_138_F
Q14683	SMC1A	894	R	G	1	ClinVar	no assertion criteria provided	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	R895G	False	False	False	False	False	Q14683_894_G
Q13224	GRIN2B	812	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	L813V	False	False	False	False	False	Q13224_812_V
Q9H845	ACAD9	210	K	R	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	K211R	False	False	False	False	False	Q9H845_210_R
Q9H845	ACAD9	280	P	L	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	P281L	False	False	False	False	False	Q9H845_280_L
Q5T160	RARS2	521	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	V522I	False	False	False	False	False	Q5T160_521_I
Q9UQD0	SCN8A	1478	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1479T	False	False	False	False	False	Q9UQD0_1478_T
Q05639	EEF1A2	15	V	L	1	ClinVar	no assertion criteria provided	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	V16L	True	False	False	False	True	Q05639_15_L
Q9Y6H1	CHCHD2	139	V	M	0	ClinVar	no assertion criteria provided	0.026490066225165563	Coiled-coil-helix-coiled-coil-helix domain-contain	V140M	False	False	False	False	False	Q9Y6H1_139_M
Q99250	SCN2A	352	C	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	C353S	False	False	True	True	False	Q99250_352_S
Q99250	SCN2A	418	L	M	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L419M	False	False	False	False	False	Q99250_418_M
Q99250	SCN2A	833	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S834N	False	False	False	False	False	Q99250_833_N
P61764	STXBP1	261	D	Y	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	D262Y	False	False	False	False	False	P61764_261_Y
Q9UQD0	SCN8A	889	A	P	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A890P	False	False	False	False	False	Q9UQD0_889_P
P28472	GABRB3	244	Y	H	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	Y245H	False	False	False	False	False	P28472_244_H
P09471	GNAO1	243	M	K	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	M244K	False	False	False	False	False	P09471_243_K
O43526	KCNQ2	193	T	I	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T194I	False	False	False	False	False	O43526_193_I
Q9NP73	ALG13	106	N	I	1	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	N107I	False	False	False	False	False	Q9NP73_106_I
O76039	CDKL5	21	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G22A	True	False	False	False	True	O76039_21_A
O76039	CDKL5	96	L	P	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L97P	False	False	False	False	False	O76039_96_P
Q9UM47	NOTCH3	639	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R640C	False	True	False	True	False	Q9UM47_639_C
P38646	HSPA9	318	L	F	1	ClinVar	criteria provided, single submitter	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	L319F	False	False	False	False	False	P38646_318_F
O43526	KCNQ2	248	L	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L249P	False	False	False	False	False	O43526_248_P
P31641	SLC6A6	77	A	E	1	ClinVar	criteria provided, single submitter	0.03064516129032258	Sodium- and chloride-dependent taurine transporter	A78E	False	False	False	True	False	P31641_77_E
P31641	SLC6A6	398	G	V	1	ClinVar	criteria provided, single submitter	0.03064516129032258	Sodium- and chloride-dependent taurine transporter	G399V	False	False	False	True	False	P31641_398_V
P11166	SLC2A1	309	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	T310I	False	False	False	False	False	P11166_309_I
P14867	GABRA1	214	L	I	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	L215I	False	False	False	False	False	P14867_214_I
A6NI61	MYMK	101	L	P	1	ClinVar	criteria provided, single submitter	0.03619909502262444	Protein myomaker (Myoblast fusion maker) (Transmem	L102P	False	False	False	True	False	A6NI61_101_P
P05165	PCCA	268	H	Y	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	H269Y	False	False	False	False	False	P05165_268_Y
P35498	SCN1A	1364	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1365D	False	False	False	False	False	P35498_1364_D
P21817	RYR1	681	R	G	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R682G	False	False	False	False	False	P21817_681_G
P21817	RYR1	1293	V	F	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	V1294F	False	False	False	False	False	P21817_1293_F
P21817	RYR1	1571	M	T	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	M1572T	False	False	False	False	False	P21817_1571_T
P21817	RYR1	4815	D	G	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D4816G	False	False	False	False	False	P21817_4815_G
P13805	TNNT1	0	M	V	1	ClinVar	criteria provided, single submitter	0.0035971223021582736	Troponin T, slow skeletal muscle (TnTs) (Slow skel	M1V	True	False	False	False	True	P13805_0_V
O75306	NDUFS2	147	E	K	1	ClinVar	criteria provided, single submitter	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	E148K	False	False	False	False	False	O75306_147_K
Q15878	CACNA1E	697	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	F698L	False	False	False	False	False	Q15878_697_L
P68133	ACTA1	257	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R258H	False	False	False	False	False	P68133_257_H
P11166	SLC2A1	484	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	P485L	False	False	False	False	False	P11166_484_L
Q9NY46	SCN3A	246	L	P	1	ClinVar	criteria provided, single submitter	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	L247P	False	False	False	False	False	Q9NY46_246_P
Q99250	SCN2A	1649	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1650P	False	False	False	False	False	Q99250_1649_P
P35498	SCN1A	861	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R862L	False	False	False	False	False	P35498_861_L
Q13144	EIF2B5	402	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	A403V	False	False	False	False	False	Q13144_402_V
O76024	WFS1	322	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	H323R	False	False	False	False	False	O76024_322_R
Q99715	COL12A1	2752	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	G2753D	False	False	False	False	False	Q99715_2752_D
Q5T160	RARS2	0	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1R	True	False	False	False	True	Q5T160_0_R
Q9BYZ6	RHOBTB2	488	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	R489G	False	False	False	False	False	Q9BYZ6_488_G
Q9Y223	GNE	1	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	E2G	True	False	False	False	True	Q9Y223_1_G
Q5T481	RBM20	760	R	Q	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R761Q	False	False	False	False	False	Q5T481_760_Q
P12883	MYH7	199	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A200V	False	False	False	False	False	P12883_199_V
O43526	KCNQ2	249	V	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V250L	False	False	False	False	False	O43526_249_L
O43526	KCNQ2	131	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V132M	False	False	False	False	False	O43526_131_M
P12109	COL6A1	268	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G269E	False	False	False	False	False	P12109_268_E
P08559	PDHA1	126	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R127Q	False	False	False	True	False	P08559_126_Q
Q96I59	NARS2	181	I	K	1	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	I182K	False	False	False	False	False	Q96I59_181_K
Q9P2R7	SUCLA2	332	D	Y	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	D333Y	False	False	False	False	False	Q9P2R7_332_Y
Q8NCW5	NAXE	188	G	S	1	ClinVar	criteria provided, single submitter	0.020833333333333332	NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipopr	G189S	False	False	False	False	False	Q8NCW5_188_S
P55072	VCP	190	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R191P	False	False	False	False	False	P55072_190_P
Q13698	CACNA1S	645	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	V646I	False	False	False	False	False	Q13698_645_I
Q13698	CACNA1S	638	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	I639V	False	False	False	False	False	Q13698_638_V
Q13698	CACNA1S	148	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	T149A	False	False	False	False	False	Q13698_148_A
P50570	DNM2	804	S	L	0	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	S805L	False	False	False	False	False	P50570_804_L
Q9UM47	NOTCH3	197	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	A198V	False	False	False	True	False	Q9UM47_197_V
Q9UM47	NOTCH3	138	D	N	0	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	D139N	False	False	False	True	False	Q9UM47_138_N
Q99250	SCN2A	668	L	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L669F	False	False	False	False	False	Q99250_668_F
P12111	COL6A3	3010	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	R3011G	False	False	False	False	False	P12111_3010_G
P12109	COL6A1	455	R	G	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R456G	False	False	False	False	False	P12109_455_G
P12109	COL6A1	972	V	F	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V973F	False	False	False	False	False	P12109_972_F
P07333	CSF1R	405	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	V406I	False	False	False	False	False	P07333_405_I
P07333	CSF1R	298	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A299T	False	False	False	False	False	P07333_298_T
P07333	CSF1R	239	N	K	0	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	N240K	False	False	False	False	False	P07333_239_K
P07333	CSF1R	213	R	Q	0	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	R214Q	False	False	False	False	False	P07333_213_Q
Q96CU9	FOXRED1	69	G	A	1	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	G70A	False	False	False	False	False	Q96CU9_69_A
P17661	DES	284	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	A285V	False	False	False	False	False	P17661_284_V
P15924	DSP	506	S	F	1	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	S507F	False	False	False	False	False	P15924_506_F
O75112	LDB3	433	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	A434P	False	False	False	False	False	O75112_433_P
P12883	MYH7	777	D	H	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D778H	False	False	False	False	False	P12883_777_H
Q16619	CTF1	198	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009950248756218905	Cardiotrophin-1 (CT-1)	G199D	False	False	False	False	False	Q16619_198_D
Q14126	DSG2	854	Q	K	0	ClinVar	criteria provided, single submitter	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	Q855K	False	False	False	False	False	Q14126_854_K
Q9Y3A0	COQ4	101	R	H	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R102H	False	False	False	False	False	Q9Y3A0_101_H
P35498	SCN1A	955	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M956T	False	False	False	False	False	P35498_955_T
Q86SX6	GLRX5	66	C	Y	1	ClinVar	no assertion criteria provided	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	C67Y	False	False	True	True	False	Q86SX6_66_Y
Q86SX6	GLRX5	127	M	K	1	ClinVar	no assertion criteria provided	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	M128K	False	False	False	False	False	Q86SX6_127_K
Q8TB37	NUBPL	116	M	I	1	ClinVar	no assertion criteria provided	0.012539184952978056	Iron-sulfur cluster transfer protein NUBPL (IND1 h	M117I	False	False	False	False	False	Q8TB37_116_I
Q13224	GRIN2B	498	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G499R	False	False	False	False	False	Q13224_498_R
Q13224	GRIN2B	818	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A819T	False	False	False	False	False	Q13224_818_T
P02545	LMNA	190	V	G	0	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	V191G	False	False	False	False	False	P02545_190_G
Q13224	GRIN2B	797	T	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T798P	False	False	False	False	False	Q13224_797_P
O00555	CACNA1A	1690	L	Q	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	L1691Q	False	False	False	False	False	O00555_1690_Q
Q9UM47	NOTCH3	154	C	G	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C155G	False	False	True	True	False	Q9UM47_154_G
O76039	CDKL5	19	G	V	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G20V	True	False	False	False	True	O76039_19_V
Q92736	RYR2	2948	G	S	0	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	G2949S	False	False	False	False	False	Q92736_2948_S
Q92736	RYR2	3087	K	R	0	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	K3088R	False	False	False	False	False	Q92736_3087_R
Q92736	RYR2	3237	I	V	0	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	I3238V	False	False	False	False	False	Q92736_3237_V
Q92736	RYR2	3538	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	D3539N	False	False	False	False	False	Q92736_3538_N
Q9BTV4	TMEM43	8	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0025	Transmembrane protein 43 (Protein LUMA)	S9G	True	False	False	False	True	Q9BTV4_8_G
P15924	DSP	47	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I48V	True	False	False	False	True	P15924_47_V
P15924	DSP	607	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I608M	False	False	False	False	False	P15924_607_M
P15924	DSP	2568	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T2569I	False	False	False	False	False	P15924_2568_I
P15924	DSP	2661	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	H2662Q	False	False	False	False	False	P15924_2661_Q
Q9UGJ0	PRKAG2	181	H	Q	0	ClinVar	criteria provided, single submitter	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	H182Q	False	False	False	False	False	Q9UGJ0_181_Q
Q9UGJ0	PRKAG2	88	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	M89V	False	False	False	False	False	Q9UGJ0_88_V
Q14896	MYBPC3	130	A	V	0	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	A131V	False	False	False	False	False	Q14896_130_V
Q99959	PKP2	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01021566401816118	Plakophilin-2	M1T	True	False	False	False	True	Q99959_0_T
P12883	MYH7	51	V	L	0	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V52L	False	False	False	False	False	P12883_51_L
Q02487	DSC2	848	H	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	H849P	False	False	False	False	False	Q02487_848_P
Q02487	DSC2	586	P	T	0	ClinVar	criteria provided, single submitter	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	P587T	False	False	False	False	False	Q02487_586_T
Q02487	DSC2	84	I	V	0	ClinVar	criteria provided, single submitter	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	I85V	False	False	False	False	False	Q02487_84_V
Q02487	DSC2	57	F	L	0	ClinVar	criteria provided, single submitter	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	F58L	False	False	False	False	False	Q02487_57_L
Q02487	DSC2	4	R	G	0	ClinVar	criteria provided, single submitter	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	R5G	True	False	False	False	True	Q02487_4_G
Q14126	DSG2	312	A	V	0	ClinVar	criteria provided, single submitter	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	A313V	False	False	False	False	False	Q14126_312_V
Q14126	DSG2	546	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	A547V	False	False	False	False	False	Q14126_546_V
Q14126	DSG2	627	V	I	0	ClinVar	criteria provided, single submitter	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	V628I	False	False	False	False	False	Q14126_627_I
Q14126	DSG2	739	M	I	0	ClinVar	criteria provided, single submitter	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	M740I	False	False	False	False	False	Q14126_739_I
Q14126	DSG2	741	T	A	0	ClinVar	criteria provided, single submitter	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	T742A	False	False	False	False	False	Q14126_741_A
Q14126	DSG2	979	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	A980T	False	False	False	False	False	Q14126_979_T
P19429	TNNI3	9	R	G	0	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R10G	True	False	False	False	True	P19429_9_G
P10589	NR2F1	85	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	C86R	False	False	True	True	False	P10589_85_R
Q13224	GRIN2B	558	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	W559R	False	False	False	False	False	Q13224_558_R
Q8TAB3	PCDH19	384	Q	E	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	Q385E	False	False	False	False	False	Q8TAB3_384_E
O76039	CDKL5	12	F	S	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	F13S	True	False	False	False	True	O76039_12_S
Q9BWU1	CDK19	31	Y	H	1	ClinVar	criteria provided, single submitter	0.0099601593625498	Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-re	Y32H	True	False	False	False	True	Q9BWU1_31_H
P68133	ACTA1	197	R	H	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R198H	False	False	False	False	False	P68133_197_H
P35498	SCN1A	1780	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1781H	False	False	False	False	False	P35498_1780_H
Q96Q11	TRNT1	202	R	K	1	ClinVar	criteria provided, single submitter	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	R203K	False	False	False	False	False	Q96Q11_202_K
O00330	PDHX	430	V	A	1	ClinVar	criteria provided, single submitter	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	V431A	False	False	False	False	False	O00330_430_A
Q9UQD0	SCN8A	872	G	C	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G873C	False	True	False	True	False	Q9UQD0_872_C
P12883	MYH7	730	P	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P731R	False	False	False	False	False	P12883_730_R
P12883	MYH7	662	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R663S	False	False	False	False	False	P12883_662_S
P50570	DNM2	649	E	K	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	E650K	False	False	False	False	False	P50570_649_K
Q9UM47	NOTCH3	510	C	G	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C511G	False	False	True	True	False	Q9UM47_510_G
Q9H9S5	FKRP	320	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01616161616161616	Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) 	A321E	False	False	False	False	False	Q9H9S5_320_E
Q13496	MTM1	197	Y	H	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	Y198H	False	False	False	False	False	Q13496_197_H
Q99250	SCN2A	1621	P	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	P1622S	False	False	False	False	False	Q99250_1621_S
P16389	KCNA2	203	T	I	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	T204I	False	False	False	False	False	P16389_203_I
Q99643	SDHC	126	H	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	H127N	False	False	False	False	False	Q99643_126_N
P68133	ACTA1	197	R	C	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R198C	False	True	False	True	False	P68133_197_C
P68133	ACTA1	93	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N94K	False	False	False	False	False	P68133_93_K
P68133	ACTA1	65	I	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I66S	False	False	False	False	False	P68133_65_S
P68133	ACTA1	16	G	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G17S	True	False	False	False	True	P68133_16_S
Q00839	HNRNPU	151	A	V	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A152V	False	False	False	False	False	Q00839_151_V
P20929	NEB	6944	P	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P6945L	False	False	False	False	False	P20929_6944_L
P20929	NEB	2752	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y2753H	False	False	False	False	False	P20929_2752_H
P35498	SCN1A	1654	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1655R	False	False	False	False	False	P35498_1654_R
P35498	SCN1A	1450	P	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1451A	False	False	False	False	False	P35498_1450_A
P35498	SCN1A	1287	D	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1288A	False	False	False	False	False	P35498_1287_A
P35498	SCN1A	1203	W	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1204S	False	False	False	False	False	P35498_1203_S
P35498	SCN1A	809	I	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I810N	False	False	False	False	False	P35498_809_N
P35498	SCN1A	409	G	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G410V	False	False	False	False	False	P35498_409_V
P35498	SCN1A	373	S	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S374Y	False	False	False	False	False	P35498_373_Y
P17661	DES	351	L	S	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	L352S	False	False	False	False	False	P17661_351_S
P12111	COL6A3	3162	A	P	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A3163P	False	False	False	False	False	P12111_3162_P
P40939	HADHA	675	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	R676H	False	False	False	False	False	P40939_675_H
Q99715	COL12A1	2066	I	T	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	I2067T	False	False	False	False	False	Q99715_2066_T
Q99715	COL12A1	1689	A	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A1690V	False	False	False	False	False	Q99715_1689_V
Q99715	COL12A1	323	L	R	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	L324R	False	False	False	False	False	Q99715_323_R
P15924	DSP	450	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R451G	False	False	False	False	False	P15924_450_G
P15924	DSP	2744	I	M	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I2745M	False	False	False	False	False	P15924_2744_M
Q14315	FLNC	477	R	C	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R478C	False	True	False	True	False	Q14315_477_C
P61764	STXBP1	543	G	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G544R	False	False	False	False	False	P61764_543_R
P23378	GLDC	131	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S132L	False	False	False	False	False	P23378_131_L
O75899	GABBR2	303	R	W	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R304W	False	False	False	False	False	O75899_303_W
O14521	SDHD	101	H	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	H102P	False	False	False	True	False	O14521_101_P
Q13224	GRIN2B	1306	F	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	F1307S	False	False	False	False	False	Q13224_1306_S
Q13224	GRIN2B	1114	R	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1115S	False	False	False	False	False	Q13224_1114_S
Q13224	GRIN2B	881	S	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S882A	False	False	False	False	False	Q13224_881_A
Q12860	CNTN1	431	V	M	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	V432M	False	False	False	False	False	Q12860_431_M
Q12860	CNTN1	693	I	T	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	I694T	False	False	False	False	False	Q12860_693_T
Q9UQD0	SCN8A	265	A	T	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A266T	False	False	False	False	False	Q9UQD0_265_T
Q8NCM2	KCNH5	717	E	Q	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	E718Q	False	False	False	False	False	Q8NCM2_717_Q
Q8NCM2	KCNH5	400	R	H	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R401H	False	False	False	False	False	Q8NCM2_400_H
Q8NCM2	KCNH5	4	K	N	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	K5N	True	False	False	False	True	Q8NCM2_4_N
C9JR72	KBTBD13	61	L	P	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	L62P	False	False	False	True	False	C9JR72_61_P
C9JR72	KBTBD13	174	R	C	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	R175C	False	True	False	True	False	C9JR72_174_C
C9JR72	KBTBD13	252	L	M	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	L253M	False	False	False	True	False	C9JR72_252_M
O14647	CHD2	52	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S53L	False	False	False	False	False	O14647_52_L
O14647	CHD2	1312	R	P	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1313P	False	False	False	False	False	O14647_1312_P
P09471	GNAO1	175	L	Q	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	L176Q	False	False	False	False	False	P09471_175_Q
O00555	CACNA1A	1454	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1455M	False	False	False	False	False	O00555_1454_M
Q14721	KCNB1	757	A	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A758S	False	False	False	False	False	Q14721_757_S
O43526	KCNQ2	539	I	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I540S	False	False	False	False	False	O43526_539_S
O43526	KCNQ2	347	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A348T	False	False	False	False	False	O43526_347_T
O43526	KCNQ2	260	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F261C	False	True	False	True	False	O43526_260_C
O43526	KCNQ2	255	G	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G256V	False	False	False	False	False	O43526_255_V
O43526	KCNQ2	211	D	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D212A	False	False	False	False	False	O43526_211_A
O43526	KCNQ2	100	L	H	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L101H	False	False	False	False	False	O43526_100_H
P57059	SIK1	618	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	R619Q	False	False	False	False	False	P57059_618_Q
P12109	COL6A1	111	A	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A112V	False	False	False	False	False	P12109_111_V
P12109	COL6A1	216	D	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D217V	False	False	False	False	False	P12109_216_V
P12109	COL6A1	278	E	G	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E279G	False	False	False	False	False	P12109_278_G
P12109	COL6A1	292	G	V	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G293V	False	False	False	False	False	P12109_292_V
P12110	COL6A2	267	G	V	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G268V	False	False	False	False	False	P12110_267_V
Q8TAB3	PCDH19	295	G	V	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	G296V	False	False	False	False	False	Q8TAB3_295_V
Q8TAB3	PCDH19	235	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P236S	False	False	False	False	False	Q8TAB3_235_S
Q9NP73	ALG13	577	I	T	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	I578T	False	False	False	False	False	Q9NP73_577_T
O76039	CDKL5	796	D	H	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	D797H	False	False	False	False	False	O76039_796_H
P11532	DMD	3213	K	N	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	K3214N	False	False	False	False	False	P11532_3213_N
P11532	DMD	1050	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R1051Q	False	False	False	False	False	P11532_1050_Q
P11532	DMD	843	Q	K	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	Q844K	False	False	False	False	False	P11532_843_K
O95140	MFN2	743	E	D	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	E744D	False	False	False	False	False	O95140_743_D
P21912	SDHB	112	C	Y	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C113Y	False	False	True	True	False	P21912_112_Y
P68133	ACTA1	78	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	T79I	False	False	False	False	False	P68133_78_I
Q00839	HNRNPU	74	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	E75Q	False	False	False	False	False	Q00839_74_Q
P20929	NEB	7684	G	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G7685E	False	False	False	False	False	P20929_7684_E
P20929	NEB	7291	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G7292D	False	False	False	False	False	P20929_7291_D
Q99250	SCN2A	209	L	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L210Q	False	False	False	False	False	Q99250_209_Q
Q99250	SCN2A	287	F	L	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F288L	False	False	False	False	False	Q99250_287_L
Q99250	SCN2A	373	F	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F374L	False	False	False	False	False	Q99250_373_L
Q99250	SCN2A	982	L	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L983W	False	False	False	False	False	Q99250_982_W
Q99250	SCN2A	1364	H	R	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	H1365R	False	False	False	False	False	Q99250_1364_R
Q99250	SCN2A	1589	F	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F1590S	False	False	False	False	False	Q99250_1589_S
P35498	SCN1A	1739	D	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1740H	False	False	False	False	False	P35498_1739_H
P35498	SCN1A	1704	F	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1705C	False	True	False	True	False	P35498_1704_C
P35498	SCN1A	1683	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1684C	False	True	False	True	False	P35498_1683_C
P35498	SCN1A	1471	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1472L	False	False	False	False	False	P35498_1471_L
P35498	SCN1A	982	V	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V983F	False	False	False	False	False	P35498_982_F
P35498	SCN1A	956	W	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W957G	False	False	False	False	False	P35498_956_G
P35498	SCN1A	386	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L387P	False	False	False	False	False	P35498_386_P
P35498	SCN1A	238	A	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A239G	False	False	False	False	False	P35498_238_G
P12111	COL6A3	2606	R	G	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R2607G	False	False	False	False	False	P12111_2606_G
P12111	COL6A3	2051	K	N	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	K2052N	False	False	False	False	False	P12111_2051_N
P12111	COL6A3	1604	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1605V	False	False	False	False	False	P12111_1604_V
P12111	COL6A3	774	C	Y	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	C775Y	False	False	True	True	False	P12111_774_Y
P12111	COL6A3	556	T	A	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	T557A	False	False	False	False	False	P12111_556_A
P12111	COL6A3	240	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A241T	False	False	False	False	False	P12111_240_T
P12111	COL6A3	4	R	W	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R5W	True	False	False	False	True	P12111_4_W
P05166	PCCB	362	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	S363P	False	False	False	False	False	P05166_362_P
Q13144	EIF2B5	268	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	R269Q	False	False	False	False	False	Q13144_268_Q
Q00577	PURA	19	S	P	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	S20P	True	False	False	False	True	Q00577_19_P
Q00577	PURA	308	A	P	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	A309P	False	False	False	False	False	Q00577_308_P
O60741	HCN1	655	P	R	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P656R	False	False	False	False	False	O60741_655_R
Q99715	COL12A1	1950	D	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	D1951N	False	False	False	False	False	Q99715_1950_N
Q99715	COL12A1	1946	P	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P1947S	False	False	False	False	False	Q99715_1946_S
Q99715	COL12A1	408	G	E	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G409E	False	False	False	False	False	Q99715_408_E
P15924	DSP	554	I	F	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I555F	False	False	False	False	False	P15924_554_F
P15924	DSP	2086	Y	C	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y2087C	False	True	False	True	False	P15924_2086_C
Q9UJS0	SLC25A13	545	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	T546M	False	False	False	False	False	Q9UJS0_545_M
Q9UJS0	SLC25A13	138	G	R	1	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	G139R	False	False	False	False	False	Q9UJS0_138_R
Q9BUB7	TMEM70	0	M	T	1	ClinVar	criteria provided, single submitter	0.011538461538461539	Transmembrane protein 70, mitochondrial	M1T	True	False	False	False	True	Q9BUB7_0_T
P61764	STXBP1	138	P	Q	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P139Q	False	False	False	False	False	P61764_138_Q
O75899	GABBR2	713	R	Q	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R714Q	False	False	False	False	False	O75899_713_Q
O75899	GABBR2	640	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I641V	False	False	False	False	False	O75899_640_V
O75899	GABBR2	434	R	K	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R435K	False	False	False	False	False	O75899_434_K
Q9UQD0	SCN8A	1464	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D1465N	False	False	False	False	False	Q9UQD0_1464_N
Q9UQD0	SCN8A	1759	M	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1760V	False	False	False	False	False	Q9UQD0_1759_V
P12883	MYH7	902	E	Q	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E903Q	False	False	False	False	False	P12883_902_Q
Q8NCM2	KCNH5	400	R	C	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R401C	False	True	False	True	False	Q8NCM2_400_C
Q8NCM2	KCNH5	373	E	K	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	E374K	False	False	False	False	False	Q8NCM2_373_K
C9JR72	KBTBD13	109	C	Y	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	C110Y	False	False	True	True	False	C9JR72_109_Y
O14647	CHD2	1675	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1676E	False	False	False	False	False	O14647_1675_E
O00555	CACNA1A	2133	R	H	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2134H	False	False	False	False	False	O00555_2133_H
O00555	CACNA1A	1418	K	R	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	K1419R	False	False	False	False	False	O00555_1418_R
O00555	CACNA1A	895	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P896L	False	False	False	False	False	O00555_895_L
P21817	RYR1	4917	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D4918N	False	False	False	False	False	P21817_4917_N
Q14721	KCNB1	697	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R698Q	False	False	False	False	False	Q14721_697_Q
Q14721	KCNB1	381	D	V	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	D382V	False	False	False	False	False	Q14721_381_V
Q14721	KCNB1	208	N	K	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	N209K	False	False	False	False	False	Q14721_208_K
O43526	KCNQ2	545	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M546I	False	False	False	False	False	O43526_545_I
O43526	KCNQ2	302	S	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S303C	False	True	False	True	False	O43526_302_C
O43526	KCNQ2	275	T	N	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T276N	False	False	False	False	False	O43526_275_N
O43526	KCNQ2	229	K	M	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K230M	False	False	False	False	False	O43526_229_M
P57059	SIK1	768	E	K	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	E769K	False	False	False	False	False	P57059_768_K
P12109	COL6A1	104	R	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R105L	False	False	False	False	False	P12109_104_L
P12109	COL6A1	370	G	E	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G371E	False	False	False	False	False	P12109_370_E
P12110	COL6A2	282	G	V	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G283V	False	False	False	False	False	P12110_282_V
P12110	COL6A2	798	D	N	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	D799N	False	False	False	False	False	P12110_798_N
P12110	COL6A2	929	R	H	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	R930H	False	False	False	False	False	P12110_929_H
Q8TAB3	PCDH19	123	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	D124H	False	False	False	False	False	Q8TAB3_123_H
Q9NP73	ALG13	129	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	L130P	False	False	False	False	False	Q9NP73_129_P
O95831	AIFM1	410	G	D	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G411D	False	False	False	False	False	O95831_410_D
O76039	CDKL5	461	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E462D	False	False	False	False	False	O76039_461_D
O76039	CDKL5	711	V	A	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V712A	False	False	False	False	False	O76039_711_A
P08559	PDHA1	287	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R288C	False	True	False	True	False	P08559_287_C
Q96QS3	ARX	208	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	G209S	False	False	False	False	False	Q96QS3_208_S
P11532	DMD	2377	D	N	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	D2378N	False	False	False	False	False	P11532_2377_N
P11532	DMD	632	N	D	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	N633D	False	False	False	False	False	P11532_632_D
Q5ST30	VARS2	716	A	T	1	ClinVar	no assertion criteria provided	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	A717T	False	False	False	False	False	Q5ST30_716_T
Q5ST30	VARS2	353	D	N	1	ClinVar	no assertion criteria provided	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	D354N	False	False	False	False	False	Q5ST30_353_N
O95140	MFN2	164	H	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H165P	False	False	False	False	False	O95140_164_P
P68133	ACTA1	19	K	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	K20N	True	False	False	False	True	P68133_19_N
Q00839	HNRNPU	203	R	T	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	R204T	False	False	False	False	False	Q00839_203_T
P20929	NEB	8014	G	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G8015E	False	False	False	False	False	P20929_8014_E
Q99250	SCN2A	1151	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1152T	False	False	False	False	False	Q99250_1151_T
P35498	SCN1A	1764	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1765L	False	False	False	False	False	P35498_1764_L
P35498	SCN1A	1709	F	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1710S	False	False	False	False	False	P35498_1709_S
P35498	SCN1A	1350	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1351F	False	False	False	False	False	P35498_1350_F
P35498	SCN1A	975	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M976I	False	False	False	False	False	P35498_975_I
P35498	SCN1A	789	Y	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y790F	False	False	False	False	False	P35498_789_F
P35498	SCN1A	537	I	T	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I538T	False	False	False	False	False	P35498_537_T
P35498	SCN1A	200	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A201V	False	False	False	False	False	P35498_200_V
P35498	SCN1A	162	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G163E	False	False	False	False	False	P35498_162_E
P12111	COL6A3	2625	S	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S2626N	False	False	False	False	False	P12111_2625_N
P12111	COL6A3	2454	T	A	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	T2455A	False	False	False	False	False	P12111_2454_A
P12111	COL6A3	1816	H	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	H1817R	False	False	False	False	False	P12111_1816_R
P12111	COL6A3	1340	V	I	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V1341I	False	False	False	False	False	P12111_1340_I
Q96Q11	TRNT1	415	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	K416E	False	False	False	False	False	Q96Q11_415_E
P48728	AMT	233	S	L	0	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	S234L	False	False	False	False	False	P48728_233_L
P31040	SDHA	588	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	R589G	False	False	False	False	False	P31040_588_G
Q99715	COL12A1	2642	L	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	L2643V	False	False	False	False	False	Q99715_2642_V
Q99715	COL12A1	418	M	T	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	M419T	False	False	False	False	False	Q99715_418_T
Q14315	FLNC	1319	E	K	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	E1320K	False	False	False	False	False	Q14315_1319_K
Q14315	FLNC	2408	R	C	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R2409C	False	True	False	True	False	Q14315_2408_C
Q6PJG6	BRAT1	755	R	W	0	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R756W	False	False	False	True	False	Q6PJG6_755_W
Q05193	DNM1	348	D	E	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	D349E	False	False	False	False	False	Q05193_348_E
P23378	GLDC	832	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A833V	False	False	False	False	False	P23378_832_V
O75899	GABBR2	236	C	G	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	C237G	False	False	True	True	False	O75899_236_G
O75899	GABBR2	32	L	P	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	L33P	True	False	False	False	True	O75899_32_P
Q5T481	RBM20	350	D	N	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D351N	False	False	False	False	False	Q5T481_350_N
Q14896	MYBPC3	450	E	Q	1	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	E451Q	False	False	False	False	False	Q14896_450_Q
Q13224	GRIN2B	1042	S	A	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S1043A	False	False	False	False	False	Q13224_1042_A
Q9UQD0	SCN8A	10	P	T	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	P11T	True	False	False	False	True	Q9UQD0_10_T
Q9UQD0	SCN8A	932	L	F	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L933F	False	False	False	False	False	Q9UQD0_932_F
Q9UQD0	SCN8A	1626	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1627N	False	False	False	False	False	Q9UQD0_1626_N
P12883	MYH7	834	K	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K835T	False	False	False	False	False	P12883_834_T
P12883	MYH7	458	V	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V459L	False	False	False	False	False	P12883_458_L
Q8NCM2	KCNH5	982	K	R	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	K983R	False	False	False	False	False	Q8NCM2_982_R
Q8NCM2	KCNH5	818	G	V	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	G819V	False	False	False	False	False	Q8NCM2_818_V
Q8NCM2	KCNH5	793	C	W	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	C794W	False	False	True	True	False	Q8NCM2_793_W
Q8NCM2	KCNH5	691	Q	R	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	Q692R	False	False	False	False	False	Q8NCM2_691_R
P09493	TPM1	205	S	A	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	S206A	False	False	False	False	False	P09493_205_A
Q9ULP9	TBC1D24	226	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03577817531305903	TBC1 domain family member 24	R227Q	False	False	False	True	False	Q9ULP9_226_Q
P09471	GNAO1	165	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	A166T	False	False	False	False	False	P09471_165_T
A2IDD5	CCDC78	15	R	Q	0	ClinVar	criteria provided, single submitter	0.01141552511415525	Coiled-coil domain-containing protein 78 (hsCCDC78	R16Q	True	False	False	False	True	A2IDD5_15_Q
O00555	CACNA1A	2252	R	Q	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2253Q	False	False	False	False	False	O00555_2252_Q
Q14721	KCNB1	699	S	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S700N	False	False	False	False	False	Q14721_699_N
Q14721	KCNB1	660	M	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	M661V	False	False	False	False	False	Q14721_660_V
Q14721	KCNB1	374	M	V	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	M375V	False	False	False	False	False	Q14721_374_V
Q14721	KCNB1	328	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	N329S	False	False	False	False	False	Q14721_328_S
O43526	KCNQ2	354	D	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D355E	False	False	False	False	False	O43526_354_E
P12109	COL6A1	33	C	F	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	C34F	True	False	True	True	True	P12109_33_F
P12109	COL6A1	273	P	R	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P274R	False	False	False	False	False	P12109_273_R
Q8TAB3	PCDH19	447	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	D448N	False	False	False	False	False	Q8TAB3_447_N
Q8TAB3	PCDH19	120	D	A	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D121A	False	False	False	False	False	Q8TAB3_120_A
O76039	CDKL5	174	R	T	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R175T	False	False	False	False	False	O76039_174_T
O76039	CDKL5	284	R	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R285G	False	False	False	False	False	O76039_284_G
Q96QS3	ARX	509	G	D	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	G510D	False	False	False	False	False	Q96QS3_509_D
Q96QS3	ARX	378	R	C	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R379C	False	True	False	True	False	Q96QS3_378_C
Q99643	SDHC	0	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	M1R	True	False	False	False	True	Q99643_0_R
P21912	SDHB	216	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R217L	False	False	False	True	False	P21912_216_L
Q92736	RYR2	2734	D	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	D2735A	False	False	False	False	False	Q92736_2734_A
P20929	NEB	8402	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S8403N	False	False	False	False	False	P20929_8402_N
P20929	NEB	8286	R	W	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8287W	False	False	False	False	False	P20929_8286_W
P20929	NEB	7771	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H7772R	False	False	False	False	False	P20929_7771_R
P20929	NEB	7683	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7684C	False	True	False	True	False	P20929_7683_C
P20929	NEB	7583	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D7584N	False	False	False	False	False	P20929_7583_N
P20929	NEB	7449	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T7450I	False	False	False	False	False	P20929_7449_I
P20929	NEB	6475	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D6476N	False	False	False	False	False	P20929_6475_N
P20929	NEB	3905	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R3906C	False	True	False	True	False	P20929_3905_C
P20929	NEB	3487	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R3488C	False	True	False	True	False	P20929_3487_C
P20929	NEB	2990	M	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M2991R	False	False	False	False	False	P20929_2990_R
P20929	NEB	1447	G	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G1448A	False	False	False	False	False	P20929_1447_A
P20929	NEB	1213	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E1214K	False	False	False	False	False	P20929_1213_K
P20929	NEB	882	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R883Q	False	False	False	False	False	P20929_882_Q
P20929	NEB	34	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T35M	True	False	False	False	True	P20929_34_M
P35498	SCN1A	994	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F995L	False	False	False	False	False	P35498_994_L
P35498	SCN1A	131	M	I	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M132I	False	False	False	False	False	P35498_131_I
P17661	DES	400	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	E401G	False	False	False	False	False	P17661_400_G
Q99715	COL12A1	3013	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P3014L	False	False	False	False	False	Q99715_3013_L
Q99715	COL12A1	2066	I	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	I2067V	False	False	False	False	False	Q99715_2066_V
Q14315	FLNC	2470	H	N	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	H2471N	False	False	False	False	False	Q14315_2470_N
P61764	STXBP1	192	G	A	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G193A	False	False	False	False	False	P61764_192_A
Q05193	DNM1	42	G	D	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G43D	True	False	False	False	True	Q05193_42_D
P23378	GLDC	595	R	Q	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R596Q	False	False	False	False	False	P23378_595_Q
P23378	GLDC	559	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	M560V	False	False	False	False	False	P23378_559_V
P23378	GLDC	222	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P223R	False	False	False	False	False	P23378_222_R
Q13224	GRIN2B	1046	D	E	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D1047E	False	False	False	False	False	Q13224_1046_E
Q9Y3Q4	HCN4	479	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	G480S	False	False	False	False	False	Q9Y3Q4_479_S
P54098	POLG	1050	G	E	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G1051E	False	False	False	False	False	P54098_1050_E
P09471	GNAO1	251	D	N	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D252N	False	False	False	False	False	P09471_251_N
O94989	ARHGEF15	647	R	S	0	ClinVar	criteria provided, single submitter	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R648S	False	False	False	False	False	O94989_647_S
O00555	CACNA1A	1350	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1351Q	False	False	False	False	False	O00555_1350_Q
Q9BYM8	RBCK1	22	D	E	0	ClinVar	criteria provided, single submitter	0.06274509803921569	RanBP-type and C3HC4-type zinc finger-containing p	D23E	True	False	False	True	True	Q9BYM8_22_E
Q8TAB3	PCDH19	565	P	S	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P566S	False	False	False	False	False	Q8TAB3_565_S
Q96QS3	ARX	2	N	S	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	N3S	True	False	False	False	True	Q96QS3_2_S
P11532	DMD	2719	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	R2720C	False	True	False	True	False	P11532_2719_C
P11532	DMD	2296	Q	H	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	Q2297H	False	False	False	False	False	P11532_2296_H
P11532	DMD	1797	E	V	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	E1798V	False	False	False	False	False	P11532_1797_V
P11532	DMD	1719	L	S	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	L1720S	False	False	False	False	False	P11532_1719_S
P11532	DMD	1622	K	R	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	K1623R	False	False	False	False	False	P11532_1622_R
P11532	DMD	718	E	D	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	E719D	False	False	False	False	False	P11532_718_D
P11532	DMD	470	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	T471A	False	False	False	False	False	P11532_470_A
P11532	DMD	256	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	P257S	False	False	False	False	False	P11532_256_S
Q9UM47	NOTCH3	64	C	F	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C65F	False	False	True	True	False	Q9UM47_64_F
P30084	ECHS1	76	E	Q	1	ClinVar	no assertion criteria provided	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	E77Q	False	False	False	False	False	P30084_76_Q
P30084	ECHS1	237	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A238V	False	False	False	False	False	P30084_237_V
P35498	SCN1A	114	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N115K	False	False	False	False	False	P35498_114_K
P55084	HADHB	130	A	V	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	A131V	False	False	False	False	False	P55084_130_V
P55084	HADHB	135	M	T	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	M136T	False	False	False	False	False	P55084_135_T
P55084	HADHB	142	Q	E	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	Q143E	False	False	False	False	False	P55084_142_E
Q9H3S4	TPK1	6	P	S	1	ClinVar	criteria provided, single submitter	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	P7S	True	False	False	False	True	Q9H3S4_6_S
P54098	POLG	167	A	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A168P	False	False	False	False	False	P54098_167_P
Q5TEU4	NDUFAF5	187	M	V	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M188V	False	False	False	False	False	Q5TEU4_187_V
P07333	CSF1R	588	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	G589R	False	False	False	False	False	P07333_588_R
P47870	GABRB2	251	P	T	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	P252T	False	False	False	False	False	P47870_251_T
P63267	ACTG2	195	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	E196D	False	False	False	False	False	P63267_195_D
Q9Y4W6	AFG3L2	619	Q	K	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	Q620K	False	False	False	False	False	Q9Y4W6_619_K
Q9Y4W6	AFG3L2	513	P	L	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	P514L	False	False	False	False	False	Q9Y4W6_513_L
Q9Y4W6	AFG3L2	464	R	K	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R465K	False	False	False	False	False	Q9Y4W6_464_K
Q9Y4W6	AFG3L2	429	T	I	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	T430I	False	False	False	False	False	Q9Y4W6_429_I
Q9Y4W6	AFG3L2	406	D	G	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	D407G	False	False	False	False	False	Q9Y4W6_406_G
Q9Y4W6	AFG3L2	376	F	S	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	F377S	False	False	False	False	False	Q9Y4W6_376_S
Q9Y4W6	AFG3L2	345	L	F	1	ClinVar	no assertion criteria provided	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	L346F	False	False	False	False	False	Q9Y4W6_345_F
Q14721	KCNB1	318	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S319F	False	False	False	False	False	Q14721_318_F
Q9UQD0	SCN8A	1777	D	G	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D1778G	False	False	False	False	False	Q9UQD0_1777_G
P12883	MYH7	519	C	F	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	C520F	False	False	True	True	False	P12883_519_F
P12110	COL6A2	357	G	W	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G358W	False	False	False	False	False	P12110_357_W
Q5JPH6	EARS2	106	R	C	1	ClinVar	no assertion criteria provided	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	R107C	False	True	False	True	False	Q5JPH6_106_C
P38606	ATP6V1A	322	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	R323G	False	False	False	False	False	P38606_322_G
P56539	CAV3	99	I	N	1	ClinVar	criteria provided, single submitter	0.059602649006622516	Caveolin-3 (M-caveolin)	I100N	False	False	False	True	False	P56539_99_N
P21817	RYR1	4900	E	K	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E4901K	False	False	False	False	False	P21817_4900_K
Q99714	HSD17B10	250	I	M	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	I251M	False	False	False	False	False	Q99714_250_M
P40925	MDH1	119	A	V	1	ClinVar	no assertion criteria provided	0.011976047904191617	Malate dehydrogenase, cytoplasmic (EC 1.1.1.37) (A	A120V	False	False	False	False	False	P40925_119_V
Q96EP0	RNF31	770	E	K	0	ClinVar	criteria provided, single submitter	0.05037313432835821	E3 ubiquitin-protein ligase RNF31 (EC 2.3.2.31) (H	E771K	False	False	False	True	False	Q96EP0_770_K
O95363	FARS2	83	H	P	1	ClinVar	no assertion criteria provided	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	H84P	False	False	False	False	False	O95363_83_P
O95363	FARS2	370	L	F	1	ClinVar	no assertion criteria provided	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	L371F	False	False	False	False	False	O95363_370_F
Q96F07	CYFIP2	454	A	P	1	ClinVar	criteria provided, single submitter	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	A455P	False	False	False	False	False	Q96F07_454_P
Q96F07	CYFIP2	107	Y	H	1	ClinVar	criteria provided, single submitter	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	Y108H	False	False	False	False	False	Q96F07_107_H
Q9BWU1	CDK19	27	G	R	1	ClinVar	criteria provided, single submitter	0.0099601593625498	Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-re	G28R	True	False	False	False	True	Q9BWU1_27_R
Q9BWU1	CDK19	30	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0099601593625498	Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-re	T31N	True	False	False	False	True	Q9BWU1_30_N
O00429	DNM1L	38	S	G	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	S39G	True	False	False	False	True	O00429_38_G
Q5T160	RARS2	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1L	True	False	False	False	True	Q5T160_0_L
O00555	CACNA1A	224	P	R	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P225R	False	False	False	False	False	O00555_224_R
P50461	CSRP3	144	F	C	1	ClinVar	criteria provided, single submitter	0.08247422680412371	Cysteine and glycine-rich protein 3 (Cardiac LIM p	F145C	False	True	False	True	False	P50461_144_C
P68133	ACTA1	115	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A116V	False	False	False	False	False	P68133_115_V
P68133	ACTA1	71	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P72R	False	False	False	False	False	P68133_71_R
O95363	FARS2	2	G	V	0	ClinVar	no assertion criteria provided	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	G3V	True	False	False	False	True	O95363_2_V
Q9UQD0	SCN8A	877	L	P	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L878P	False	False	False	False	False	Q9UQD0_877_P
O43526	KCNQ2	348	T	I	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T349I	False	False	False	False	False	O43526_348_I
O43526	KCNQ2	262	T	A	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T263A	False	False	False	False	False	O43526_262_A
O43526	KCNQ2	95	H	N	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	H96N	False	False	False	False	False	O43526_95_N
Q05639	EEF1A2	379	D	H	1	ClinVar	no assertion criteria provided	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	D380H	False	False	False	False	False	Q05639_379_H
Q8TAB3	PCDH19	447	D	G	1	ClinVar	no assertion criteria provided	0.018292682926829267	Protocadherin-19	D448G	False	False	False	False	False	Q8TAB3_447_G
Q9BWU1	CDK19	196	F	L	1	ClinVar	no assertion criteria provided	0.0099601593625498	Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-re	F197L	False	False	False	False	False	Q9BWU1_196_L
P16389	KCNA2	309	H	R	1	ClinVar	no assertion criteria provided	0.01603206412825651	Potassium voltage-gated channel subfamily A member	H310R	False	False	False	False	False	P16389_309_R
P21912	SDHB	190	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C191Y	False	False	True	True	False	P21912_190_Y
P11166	SLC2A1	166	G	R	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G167R	False	False	False	False	False	P11166_166_R
Q99250	SCN2A	1488	F	C	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F1489C	False	True	False	True	False	Q99250_1488_C
P35498	SCN1A	161	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T162I	False	False	False	False	False	P35498_161_I
O60741	HCN1	520	G	V	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G521V	False	False	False	False	False	O60741_520_V
P61764	STXBP1	165	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	N166S	False	False	False	False	False	P61764_165_S
P61764	STXBP1	425	L	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L426R	False	False	False	False	False	P61764_425_R
P55072	VCP	97	D	E	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	D98E	False	False	False	False	False	P55072_97_E
O00429	DNM1L	362	G	S	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G363S	False	False	False	False	False	O00429_362_S
Q9UQD0	SCN8A	1616	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1617L	False	False	False	False	False	Q9UQD0_1616_L
P28472	GABRB3	255	L	Q	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L256Q	False	False	False	False	False	P28472_255_Q
O14647	CHD2	937	L	P	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	L938P	False	False	False	False	False	O14647_937_P
Q9UM47	NOTCH3	1080	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C1081R	False	False	True	True	False	Q9UM47_1080_R
Q9UM47	NOTCH3	900	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C901R	False	False	True	True	False	Q9UM47_900_R
Q9UM47	NOTCH3	250	C	F	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C251F	False	False	True	True	False	Q9UM47_250_F
O43526	KCNQ2	354	D	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D355V	False	False	False	False	False	O43526_354_V
O43526	KCNQ2	284	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P285S	False	False	False	False	False	O43526_284_S
O43526	KCNQ2	255	G	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G256R	False	False	False	False	False	O43526_255_R
O43526	KCNQ2	253	E	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	E254D	False	False	False	False	False	O43526_253_D
O43526	KCNQ2	252	A	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A253S	False	False	False	False	False	O43526_252_S
O76039	CDKL5	21	G	R	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G22R	True	False	False	False	True	O76039_21_R
Q9Y4W6	AFG3L2	336	G	E	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G337E	False	False	False	False	False	Q9Y4W6_336_E
Q9BUR5	APOO	116	I	T	1	ClinVar	criteria provided, single submitter	0.010101010101010102	MICOS complex subunit MIC26 (Apolipoprotein O) (MI	I117T	False	False	False	False	False	Q9BUR5_116_T
P47869	GABRA2	291	T	I	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	T292I	False	False	False	False	False	P47869_291_I
P10589	NR2F1	108	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	F109L	False	False	False	True	False	P10589_108_L
Q96LL9	DNAJC30	50	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008849557522123894	DnaJ homolog subfamily C member 30, mitochondrial 	Y51C	False	True	False	True	False	Q96LL9_50_C
Q92521	PIGB	536	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	I537M	False	False	False	False	False	Q92521_536_M
O00555	CACNA1A	1354	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T1355N	False	False	False	False	False	O00555_1354_N
P13637	ATP1A3	770	T	I	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	T771I	False	False	False	False	False	P13637_770_I
Q9BUK6	MSTO1	235	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028070175438596492	Protein misato homolog 1	D236H	False	False	False	False	False	Q9BUK6_235_H
Q5T160	RARS2	9	A	V	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	A10V	True	False	False	False	True	Q5T160_9_V
O43526	KCNQ2	192	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A193V	False	False	False	False	False	O43526_192_V
P07951	TPM2	260	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	Y261C	False	True	False	True	False	P07951_260_C
Q8NCM2	KCNH5	929	A	V	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	A930V	False	False	False	False	False	Q8NCM2_929_V
Q04837	SSBP1	37	R	Q	1	ClinVar	criteria provided, single submitter	0.0	Single-stranded DNA-binding protein, mitochondrial	R38Q	True	False	False	False	True	Q04837_37_Q
Q04837	SSBP1	106	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Single-stranded DNA-binding protein, mitochondrial	R107Q	False	False	False	False	False	Q04837_106_Q
Q04837	SSBP1	140	S	N	1	ClinVar	no assertion criteria provided	0.0	Single-stranded DNA-binding protein, mitochondrial	S141N	False	False	False	False	False	Q04837_140_N
Q04837	SSBP1	39	G	V	1	ClinVar	criteria provided, single submitter	0.0	Single-stranded DNA-binding protein, mitochondrial	G40V	True	False	False	False	True	Q04837_39_V
O96000	NDUFB10	106	C	R	1	ClinVar	no assertion criteria provided	0.029069767441860465	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	C107R	False	False	True	True	False	O96000_106_R
Q96AD5	PNPLA2	10	S	L	1	ClinVar	criteria provided, single submitter	0.023809523809523808	Patatin-like phospholipase domain-containing prote	S11L	True	False	False	False	True	Q96AD5_10_L
Q8TAB3	PCDH19	148	P	A	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P149A	False	False	False	False	False	Q8TAB3_148_A
P20674	COX5A	106	R	C	1	ClinVar	no assertion criteria provided	0.02	Cytochrome c oxidase subunit 5A, mitochondrial (Cy	R107C	False	True	False	True	False	P20674_106_C
O43678	NDUFA2	56	E	A	1	ClinVar	no assertion criteria provided	0.020202020202020204	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	E57A	False	False	False	False	False	O43678_56_A
O95140	MFN2	233	M	K	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M234K	False	False	False	False	False	O95140_233_K
P19429	TNNI3	145	R	S	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R146S	False	False	False	False	False	P19429_145_S
P11177	PDHB	164	W	S	1	ClinVar	no assertion criteria provided	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	W165S	False	False	False	False	False	P11177_164_S
P11177	PDHB	100	M	T	1	ClinVar	no assertion criteria provided	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	M101T	False	False	False	False	False	P11177_100_T
P11177	PDHB	104	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	R105Q	False	False	False	False	False	P11177_104_Q
P11177	PDHB	103	L	V	1	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	L104V	False	False	False	False	False	P11177_103_V
Q9UM47	NOTCH3	1002	W	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	W1003C	False	True	False	True	False	Q9UM47_1002_C
Q9UM47	NOTCH3	184	C	W	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C185W	False	False	True	True	False	Q9UM47_184_W
Q9UM47	NOTCH3	127	C	R	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C128R	False	False	True	True	False	Q9UM47_127_R
Q99250	SCN2A	1463	T	I	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T1464I	False	False	False	False	False	Q99250_1463_I
Q99250	SCN2A	1537	M	I	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1538I	False	False	False	False	False	Q99250_1537_I
P05166	PCCB	532	K	E	1	ClinVar	no assertion criteria provided	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	K533E	False	False	False	False	False	P05166_532_E
P48728	AMT	330	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R331Q	False	False	False	False	False	P48728_330_Q
O43766	LIAS	195	T	N	1	ClinVar	no assertion criteria provided	0.026881720430107527	Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoa	T196N	False	False	False	False	False	O43766_195_N
O43766	LIAS	354	A	P	1	ClinVar	no assertion criteria provided	0.026881720430107527	Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoa	A355P	False	False	False	False	False	O43766_354_P
P21817	RYR1	3641	Y	D	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y3642D	False	False	False	False	False	P21817_3641_D
O43526	KCNQ2	187	Q	K	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Q188K	False	False	False	False	False	O43526_187_K
Q4VNC1	ATP13A4	645	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026755852842809364	Probable cation-transporting ATPase 13A4 (EC 7.2.2	E646D	False	False	False	False	False	Q4VNC1_645_D
P42126	ECI1	75	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016556291390728478	Enoyl-CoA delta isomerase 1, mitochondrial (EC 5.3	T76M	False	False	False	False	False	P42126_75_M
Q99250	SCN2A	1631	R	M	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1632M	False	False	False	False	False	Q99250_1631_M
P30084	ECHS1	155	E	G	1	ClinVar	no assertion criteria provided	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	E156G	False	False	False	False	False	P30084_155_G
P14867	GABRA1	307	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	A308T	False	False	False	False	False	P14867_307_T
Q13224	GRIN2B	518	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R519Q	False	False	False	False	False	Q13224_518_Q
Q8TAB3	PCDH19	639	L	P	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	L640P	False	False	False	False	False	Q8TAB3_639_P
Q99250	SCN2A	261	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F262S	False	False	False	False	False	Q99250_261_S
P14867	GABRA1	254	I	F	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	I255F	False	False	False	False	False	P14867_254_F
P07333	CSF1R	590	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	G591E	False	False	False	False	False	P07333_590_E
Q99250	SCN2A	260	V	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V261L	False	False	False	False	False	Q99250_260_L
O43526	KCNQ2	279	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y280H	False	False	False	False	False	O43526_279_H
Q96N67	DOCK7	992	W	R	1	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	W993R	False	False	False	False	False	Q96N67_992_R
P18505	GABRB1	284	T	K	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Gamma-aminobutyric acid receptor subunit beta-1 (G	T285K	False	False	False	False	False	P18505_284_K
Q9C0D0	PHACTR1	418	C	S	0	ClinVar	criteria provided, single submitter	0.013793103448275862	Phosphatase and actin regulator 1	C419S	False	False	True	True	False	Q9C0D0_418_S
P61764	STXBP1	543	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G544C	False	True	False	True	False	P61764_543_C
Q05193	DNM1	177	N	Y	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	N178Y	False	False	False	False	False	Q05193_177_Y
Q9UQD0	SCN8A	839	L	F	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L840F	False	False	False	False	False	Q9UQD0_839_F
O14647	CHD2	637	S	C	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S638C	False	True	False	True	False	O14647_637_C
O14647	CHD2	883	I	V	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	I884V	False	False	False	False	False	O14647_883_V
O00555	CACNA1A	733	N	K	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	N734K	False	False	False	False	False	O00555_733_K
P21817	RYR1	400	R	L	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R401L	False	False	False	False	False	P21817_400_L
Q9UL51	HCN2	373	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	M374L	False	False	False	False	False	Q9UL51_373_L
O43526	KCNQ2	194	S	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S195C	False	True	False	True	False	O43526_194_C
O76039	CDKL5	174	R	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R175G	False	False	False	False	False	O76039_174_G
O76039	CDKL5	772	E	G	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E773G	False	False	False	False	False	O76039_772_G
P22570	FDXR	154	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	R155W	False	False	False	False	False	P22570_154_W
P47870	GABRB2	298	I	V	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	I299V	False	False	False	False	False	P47870_298_V
Q16620	NTRK2	426	G	C	1	ClinVar	criteria provided, single submitter	0.0267639902676399	BDNF/NT-3 growth factors receptor (EC 2.7.10.1) (G	G427C	False	True	False	True	False	Q16620_426_C
Q9P0J0	NDUFA13	35	L	P	1	ClinVar	no assertion criteria provided	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	L36P	True	False	False	False	True	Q9P0J0_35_P
Q8TE49	OTUD7A	232	L	F	1	ClinVar	no assertion criteria provided	0.017278617710583154	OTU domain-containing protein 7A (EC 3.4.19.12) (Z	L233F	False	False	False	False	False	Q8TE49_232_F
Q8N142	ADSS1	363	L	P	1	ClinVar	no assertion criteria provided	0.010940919037199124	Adenylosuccinate synthetase isozyme 1 (AMPSase 1) 	L364P	False	False	False	False	False	Q8N142_363_P
Q14721	KCNB1	396	C	F	1	ClinVar	no assertion criteria provided	0.017482517482517484	Potassium voltage-gated channel subfamily B member	C397F	False	False	True	True	False	Q14721_396_F
P08559	PDHA1	1	R	T	0	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R2T	True	False	False	True	True	P08559_1_T
P28472	GABRB3	209	Q	H	1	ClinVar	no assertion criteria provided	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	Q210H	False	False	False	False	False	P28472_209_H
P18505	GABRB1	246	I	T	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Gamma-aminobutyric acid receptor subunit beta-1 (G	I247T	False	False	False	False	False	P18505_246_T
P47870	GABRB2	328	I	N	1	ClinVar	no assertion criteria provided	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	I329N	False	False	False	False	False	P47870_328_N
O14647	CHD2	644	T	K	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T645K	False	False	False	False	False	O14647_644_K
Q99250	SCN2A	197	V	D	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V198D	False	False	False	False	False	Q99250_197_D
Q99250	SCN2A	210	G	D	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G211D	False	False	False	False	False	Q99250_210_D
Q99250	SCN2A	845	L	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L846F	False	False	False	False	False	Q99250_845_F
Q99250	SCN2A	1657	P	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	P1658S	False	False	False	False	False	Q99250_1657_S
Q99250	SCN2A	1772	A	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1773E	False	False	False	False	False	Q99250_1772_E
P61764	STXBP1	251	M	T	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M252T	False	False	False	False	False	P61764_251_T
P61764	STXBP1	291	R	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R292P	False	False	False	False	False	P61764_291_P
P61764	STXBP1	479	P	S	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P480S	False	False	False	False	False	P61764_479_S
P61764	STXBP1	551	C	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C552R	False	False	True	True	False	P61764_551_R
P12883	MYH7	648	A	V	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A649V	False	False	False	False	False	P12883_648_V
Q99250	SCN2A	135	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M136I	False	False	False	False	False	Q99250_135_I
Q99250	SCN2A	978	L	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L979W	False	False	False	False	False	Q99250_978_W
O00429	DNM1L	409	E	K	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	E410K	False	False	False	False	False	O00429_409_K
Q15046	KARS1	558	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	T559M	False	False	False	False	False	Q15046_558_M
P08559	PDHA1	166	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V167M	False	False	False	True	False	P08559_166_M
P16389	KCNA2	296	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R297W	False	False	False	False	False	P16389_296_W
P10809	HSPD1	109	G	V	1	ClinVar	criteria provided, single submitter	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	G110V	False	False	False	False	False	P10809_109_V
Q15526	SURF1	106	A	S	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	A107S	False	False	False	False	False	Q15526_106_S
Q9Y4W6	AFG3L2	687	P	S	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	P688S	False	False	False	False	False	Q9Y4W6_687_S
P50570	DNM2	521	R	C	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R522C	False	True	False	True	False	P50570_521_C
O00555	CACNA1A	666	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E667K	False	False	False	False	False	O00555_666_K
Q6UVM3	KCNT2	189	R	P	1	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	R190P	False	False	False	False	False	Q6UVM3_189_P
Q13813	SPTAN1	326	L	P	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	L327P	False	False	False	False	False	Q13813_326_P
Q9UQ90	SPG7	419	T	I	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	T420I	False	False	False	False	False	Q9UQ90_419_I
P34897	SHMT2	498	P	A	1	ClinVar	criteria provided, single submitter	0.015873015873015872	Serine hydroxymethyltransferase, mitochondrial (SH	P499A	False	False	False	False	False	P34897_498_A
P34897	SHMT2	185	T	R	1	ClinVar	criteria provided, single submitter	0.015873015873015872	Serine hydroxymethyltransferase, mitochondrial (SH	T186R	False	False	False	False	False	P34897_185_R
P34897	SHMT2	378	N	D	1	ClinVar	criteria provided, single submitter	0.015873015873015872	Serine hydroxymethyltransferase, mitochondrial (SH	N379D	False	False	False	False	False	P34897_378_D
P10589	NR2F1	150	M	K	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	M151K	False	False	False	True	False	P10589_150_K
Q9UQ90	SPG7	509	A	L	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	A510L	False	False	False	False	False	Q9UQ90_509_L
Q9UQ90	SPG7	511	L	P	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	L512P	False	False	False	False	False	Q9UQ90_511_P
Q15878	CACNA1E	1334	D	V	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	D1335V	False	False	False	False	False	Q15878_1334_V
Q9UQD0	SCN8A	1335	I	T	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1336T	False	False	False	False	False	Q9UQD0_1335_T
P20929	NEB	6540	S	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S6541R	False	False	False	False	False	P20929_6540_R
P20929	NEB	1079	R	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R1080K	False	False	False	False	False	P20929_1079_K
Q9H845	ACAD9	466	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	V467I	False	False	False	False	False	Q9H845_466_I
P23378	GLDC	455	R	Q	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R456Q	False	False	False	False	False	P23378_455_Q
P08559	PDHA1	366	H	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H367L	False	False	False	True	False	P08559_366_L
Q00839	HNRNPU	267	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	R268K	False	False	False	False	False	Q00839_267_K
P53597	SUCLG1	208	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	A209E	False	False	False	False	False	P53597_208_E
P14867	GABRA1	331	A	V	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	A332V	False	False	False	False	False	P14867_331_V
Q15031	LARS2	293	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	E294K	False	False	False	False	False	Q15031_293_K
Q96DA6	DNAJC19	52	G	E	1	ClinVar	no assertion criteria provided	0.0	Mitochondrial import inner membrane translocase su	G53E	False	False	False	False	False	Q96DA6_52_E
O14521	SDHD	113	Y	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	Y114D	False	False	False	True	False	O14521_113_D
O95140	MFN2	87	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	I88T	False	False	False	False	False	O95140_87_T
Q9Y4W6	AFG3L2	674	F	L	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	F675L	False	False	False	False	False	Q9Y4W6_674_L
Q9UM47	NOTCH3	556	G	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G557C	False	True	False	True	False	Q9UM47_556_C
Q9UM47	NOTCH3	515	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C516F	False	False	True	True	False	Q9UM47_515_F
Q9UM47	NOTCH3	515	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C516Y	False	False	True	True	False	Q9UM47_515_Y
Q9UM47	NOTCH3	259	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C260F	False	False	True	True	False	Q9UM47_259_F
Q9UM47	NOTCH3	122	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C123F	False	False	True	True	False	Q9UM47_122_F
P35498	SCN1A	1724	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1725S	False	False	False	False	False	P35498_1724_S
Q92521	PIGB	154	D	H	1	ClinVar	criteria provided, single submitter	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	D155H	False	False	False	False	False	Q92521_154_H
P38606	ATP6V1A	123	V	M	0	ClinVar	no assertion criteria provided	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	V124M	False	False	False	False	False	P38606_123_M
P38606	ATP6V1A	347	A	G	0	ClinVar	no assertion criteria provided	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	A348G	False	False	False	False	False	P38606_347_G
P22695	UQCRC2	221	G	A	1	ClinVar	criteria provided, single submitter	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	G222A	False	False	False	False	False	P22695_221_A
Q13813	SPTAN1	1447	Q	P	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q1448P	False	False	False	False	False	Q13813_1447_P
P61764	STXBP1	186	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	P187L	False	False	False	False	False	P61764_186_L
Q8TAB3	PCDH19	154	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	D155H	False	False	False	False	False	Q8TAB3_154_H
Q8IWX7	UNC45B	513	C	R	1	ClinVar	no assertion criteria provided	0.024704618689581095	Protein unc-45 homolog B (Unc-45B) (SMUNC45)	C514R	False	False	True	True	False	Q8IWX7_513_R
Q99714	HSD17B10	54	G	E	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	G55E	False	False	False	False	False	Q99714_54_E
Q8NI60	COQ8A	271	G	C	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	G272C	False	True	False	True	False	Q8NI60_271_C
Q92913	FGF13	10	R	C	1	ClinVar	criteria provided, single submitter	0.0163265306122449	Fibroblast growth factor 13 (FGF-13) (Fibroblast g	R11C	True	True	False	True	True	Q92913_10_C
Q92913	FGF13	13	R	T	1	ClinVar	criteria provided, single submitter	0.0163265306122449	Fibroblast growth factor 13 (FGF-13) (Fibroblast g	R14T	True	False	False	False	True	Q92913_13_T
Q92913	FGF13	10	R	P	1	ClinVar	no assertion criteria provided	0.0163265306122449	Fibroblast growth factor 13 (FGF-13) (Fibroblast g	R11P	True	False	False	False	True	Q92913_10_P
Q5T011	SZT2	2777	S	C	1	ClinVar	no assertion criteria provided	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	S2778C	False	True	False	True	False	Q5T011_2777_C
Q5T011	SZT2	2665	W	G	1	ClinVar	no assertion criteria provided	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	W2666G	False	False	False	False	False	Q5T011_2665_G
O00555	CACNA1A	711	A	S	1	ClinVar	no assertion criteria provided	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A712S	False	False	False	False	False	O00555_711_S
Q5ST30	VARS2	919	Y	H	1	ClinVar	no assertion criteria provided	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	Y920H	False	False	False	False	False	Q5ST30_919_H
P14867	GABRA1	338	K	E	1	ClinVar	no assertion criteria provided	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	K339E	False	False	False	False	False	P14867_338_E
O75112	LDB3	230	S	I	0	ClinVar	no assertion criteria provided	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S231I	False	False	False	False	False	O75112_230_I
O75112	LDB3	230	S	R	0	ClinVar	no assertion criteria provided	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S231R	False	False	False	False	False	O75112_230_R
O75112	LDB3	239	D	N	1	ClinVar	no assertion criteria provided	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	D240N	False	False	False	False	False	O75112_239_N
O75112	LDB3	574	F	I	1	ClinVar	no assertion criteria provided	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	F575I	False	False	False	False	False	O75112_574_I
O75112	LDB3	605	F	L	1	ClinVar	no assertion criteria provided	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	F606L	False	False	False	False	False	O75112_605_L
P05165	PCCA	395	V	G	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	V396G	False	False	False	False	False	P05165_395_G
Q15046	KARS1	437	R	W	1	ClinVar	no assertion criteria provided	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	R438W	False	False	False	False	False	Q15046_437_W
Q15046	KARS1	524	E	K	1	ClinVar	no assertion criteria provided	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	E525K	False	False	False	False	False	Q15046_524_K
Q15046	KARS1	567	L	F	1	ClinVar	no assertion criteria provided	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	L568F	False	False	False	False	False	Q15046_567_F
P16389	KCNA2	406	P	S	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	P407S	False	False	False	False	False	P16389_406_S
P35609	ACTN2	463	I	V	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	I464V	False	False	False	False	False	P35609_463_V
Q00839	HNRNPU	156	G	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G157R	False	False	False	False	False	Q00839_156_R
Q00839	HNRNPU	131	N	D	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N132D	False	False	False	False	False	Q00839_131_D
Q00839	HNRNPU	100	G	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G101R	False	False	False	False	False	Q00839_100_R
P20929	NEB	8164	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y8165H	False	False	False	False	False	P20929_8164_H
P20929	NEB	7235	A	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A7236P	False	False	False	False	False	P20929_7235_P
P20929	NEB	6301	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D6302N	False	False	False	False	False	P20929_6301_N
P20929	NEB	6027	L	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L6028S	False	False	False	False	False	P20929_6027_S
P20929	NEB	1727	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1728T	False	False	False	False	False	P20929_1727_T
P20929	NEB	224	P	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P225L	False	False	False	False	False	P20929_224_L
Q99250	SCN2A	1633	G	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1634V	False	False	False	False	False	Q99250_1633_V
P35498	SCN1A	1220	E	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1221G	False	False	False	False	False	P35498_1220_G
P35498	SCN1A	387	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y388C	False	True	False	True	False	P35498_387_C
P35498	SCN1A	218	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R219G	False	False	False	False	False	P35498_218_G
P35498	SCN1A;SCN1A-AS1	159	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T160N	False	False	False	False	False	P35498_159_N
P12111	COL6A3	2786	A	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A2787S	False	False	False	False	False	P12111_2786_S
P48728	AMT	352	S	Y	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	S353Y	False	False	False	False	False	P48728_352_Y
O60741	HCN1	99	S	A	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	S100A	False	False	False	False	False	O60741_99_A
Q99715	COL12A1	1026	R	H	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R1027H	False	False	False	False	False	Q99715_1026_H
P15924	DSP	94	Y	C	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y95C	False	True	False	True	False	P15924_94_C
Q9NZV8	KCND2	402	P	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	P403A	False	False	False	False	False	Q9NZV8_402_A
Q9NZV8	KCND2	402	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	P403L	False	False	False	False	False	Q9NZV8_402_L
Q14315	FLNC	704	Y	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	Y705S	False	False	False	False	False	Q14315_704_S
Q14315	FLNC	776	T	A	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T777A	False	False	False	False	False	Q14315_776_A
P61764	STXBP1	29	V	M	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V30M	True	False	False	False	True	P61764_29_M
Q13813	SPTAN1	218	Q	R	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q219R	False	False	False	False	False	Q13813_218_R
O75899	GABBR2	825	I	L	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I826L	False	False	False	False	False	O75899_825_L
O75899	GABBR2	698	V	M	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	V699M	False	False	False	False	False	O75899_698_M
Q5T481	RBM20	290	H	Y	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	H291Y	False	False	False	False	False	Q5T481_290_Y
Q5T481	RBM20	449	R	Q	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R450Q	False	False	False	False	False	Q5T481_449_Q
Q5T481	RBM20	762	E	D	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	E763D	False	False	False	False	False	Q5T481_762_D
Q13586	STIM1	36	G	A	0	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	G37A	True	False	False	False	True	Q13586_36_A
Q13224	GRIN2B	1428	P	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1429L	False	False	False	False	False	Q13224_1428_L
Q13224	GRIN2B	1268	P	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1269S	False	False	False	False	False	Q13224_1268_S
Q9UQD0	SCN8A	872	G	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G873S	False	False	False	False	False	Q9UQD0_872_S
Q9UQD0	SCN8A	1644	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1645V	False	False	False	False	False	Q9UQD0_1644_V
P12883	MYH7	1433	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1434G	False	False	False	False	False	P12883_1433_G
P12883	MYH7	730	P	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P731L	False	False	False	False	False	P12883_730_L
Q8NCM2	KCNH5	478	N	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	N479S	False	False	False	False	False	Q8NCM2_478_S
Q8NCM2	KCNH5	244	I	L	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	I245L	False	False	False	False	False	Q8NCM2_244_L
P28472	GABRB3	303	K	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	K304R	False	False	False	False	False	P28472_303_R
P09493	TPM1	179	E	K	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E180K	False	False	False	False	False	P09493_179_K
O00555	CACNA1A	1441	Y	D	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y1442D	False	False	False	False	False	O00555_1441_D
O00555	CACNA1A	1199	E	G	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E1200G	False	False	False	False	False	O00555_1199_G
O00555	CACNA1A	1136	P	H	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1137H	False	False	False	False	False	O00555_1136_H
O00555	CACNA1A	229	G	R	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G230R	False	False	False	False	False	O00555_229_R
Q14721	KCNB1	841	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R842C	False	True	False	True	False	Q14721_841_C
Q14721	KCNB1	733	P	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P734H	False	False	False	False	False	Q14721_733_H
Q14721	KCNB1	726	T	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T727S	False	False	False	False	False	Q14721_726_S
O43526	KCNQ2	293	A	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A294S	False	False	False	False	False	O43526_293_S
P12110	COL6A2	178	R	Q	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	R179Q	False	False	False	False	False	P12110_178_Q
Q8TAB3	PCDH19	229	D	N	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D230N	False	False	False	False	False	Q8TAB3_229_N
Q9NP73	ALG13	773	G	R	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	G774R	False	False	False	False	False	Q9NP73_773_R
O95831	AIFM1	127	A	V	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A128V	False	False	False	False	False	O95831_127_V
O76039	CDKL5	197	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G198D	False	False	False	False	False	O76039_197_D
O76039	CDKL5	860	P	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P861S	False	False	False	False	False	O76039_860_S
P11532	DMD	1871	A	D	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	A1872D	False	False	False	False	False	P11532_1871_D
P11532	DMD	1822	T	S	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	T1823S	False	False	False	False	False	P11532_1822_S
P11532	DMD	820	E	G	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	E821G	False	False	False	False	False	P11532_820_G
P11532	DMD	794	G	V	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	G795V	False	False	False	False	False	P11532_794_V
P09471	GNAO1	45	K	E	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	K46E	True	False	False	False	True	P09471_45_E
P09471	GNAO1	156	L	P	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	L157P	False	False	False	False	False	P09471_156_P
P09471	GNAO1	228	S	R	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	S229R	False	False	False	False	False	P09471_228_R
P09471	GNAO1	269	N	K	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	N270K	False	False	False	False	False	P09471_269_K
P09471	GNAO1	272	D	Y	1	ClinVar	no assertion criteria provided	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D273Y	False	False	False	False	False	P09471_272_Y
P09493	TPM1	199	V	L	1	ClinVar	no assertion criteria provided	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	V200L	False	False	False	False	False	P09493_199_L
Q15878	CACNA1E	522	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	M523I	False	False	False	False	False	Q15878_522_I
Q14315	FLNC	170	N	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	N171S	False	False	False	False	False	Q14315_170_S
Q14315	FLNC	1885	D	G	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	D1886G	False	False	False	False	False	Q14315_1885_G
O14647	CHD2	644	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T645M	False	False	False	False	False	O14647_644_M
O15399	GRIN2D	680	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	M681V	False	False	False	False	False	O15399_680_V
O00764	PDXK	124	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01282051282051282	Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)	S125L	False	False	False	False	False	O00764_124_L
P12109	COL6A1	295	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G296E	False	False	False	False	False	P12109_295_E
P78363	ABCA4	1689	M	T	1	ClinVar	criteria provided, single submitter	0.01891772987241531	Retinal-specific phospholipid-transporting ATPase 	M1690T	False	False	False	False	False	P78363_1689_T
P20929	NEB	8322	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D8323N	False	False	False	False	False	P20929_8322_N
P20929	NEB	7372	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7373Q	False	False	False	False	False	P20929_7372_Q
P20929	NEB	3993	I	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I3994M	False	False	False	False	False	P20929_3993_M
P20929	NEB	984	R	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R985H	False	False	False	False	False	P20929_984_H
Q99250	SCN2A	691	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M692V	False	False	False	False	False	Q99250_691_V
Q99250	SCN2A	768	I	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I769V	False	False	False	False	False	Q99250_768_V
P35498	SCN1A	1673	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1674S	False	False	False	False	False	P35498_1673_S
P35498	SCN1A	1619	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1620L	False	False	False	False	False	P35498_1619_L
P35498	SCN1A	1558	M	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1559R	False	False	False	False	False	P35498_1558_R
P35498	SCN1A	1287	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1288N	False	False	False	False	False	P35498_1287_N
P12111	COL6A3	2715	G	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G2716V	False	False	False	False	False	P12111_2715_V
P12111	COL6A3	1898	E	G	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E1899G	False	False	False	False	False	P12111_1898_G
P12111	COL6A3	174	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I175V	False	False	False	False	False	P12111_174_V
Q00577	PURA	111	D	H	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	D112H	False	False	False	False	False	Q00577_111_H
O60741	HCN1	773	L	P	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	L774P	False	False	False	False	False	O60741_773_P
O60741	HCN1	669	A	V	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A670V	False	False	False	False	False	O60741_669_V
Q99715	COL12A1	2943	P	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P2944A	False	False	False	False	False	Q99715_2943_A
Q99715	COL12A1	2494	N	K	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	N2495K	False	False	False	False	False	Q99715_2494_K
Q99715	COL12A1	1618	T	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T1619S	False	False	False	False	False	Q99715_1618_S
Q99715	COL12A1	538	S	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S539N	False	False	False	False	False	Q99715_538_N
Q99715	COL12A1	1	R	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R2Q	True	False	False	False	True	Q99715_1_Q
P15924	DSP	169	G	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	G170R	False	False	False	False	False	P15924_169_R
P15924	DSP	1458	T	I	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T1459I	False	False	False	False	False	P15924_1458_I
Q14315	FLNC	2133	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	M2134V	False	False	False	False	False	Q14315_2133_V
Q14315	FLNC	2519	T	N	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T2520N	False	False	False	False	False	Q14315_2519_N
Q6PJG6	BRAT1	109	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	G110S	False	False	False	True	False	Q6PJG6_109_S
P61764	STXBP1	271	G	R	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G272R	False	False	False	False	False	P61764_271_R
P61764	STXBP1	353	C	G	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C354G	False	False	True	True	False	P61764_353_G
P23378	GLDC	265	Y	D	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Y266D	False	False	False	False	False	P23378_265_D
Q96D31	ORAI1	45	P	H	0	ClinVar	criteria provided, single submitter	0.009966777408637873	Calcium release-activated calcium channel protein 	P46H	True	False	False	False	True	Q96D31_45_H
Q13224	GRIN2B	920	A	P	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A921P	False	False	False	False	False	Q13224_920_P
Q12860	CNTN1	337	N	S	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	N338S	False	False	False	False	False	Q12860_337_S
P12883	MYH7	164	M	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M165T	False	False	False	False	False	P12883_164_T
Q8NCM2	KCNH5	541	R	W	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R542W	False	False	False	False	False	Q8NCM2_541_W
O00555	CACNA1A	1808	I	T	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1809T	False	False	False	False	False	O00555_1808_T
O00555	CACNA1A	1015	D	E	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1016E	False	False	False	False	False	O00555_1015_E
O00555	CACNA1A	458	S	R	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S459R	False	False	False	False	False	O00555_458_R
Q14721	KCNB1	837	S	P	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S838P	False	False	False	False	False	Q14721_837_P
Q14721	KCNB1	781	T	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T782I	False	False	False	False	False	Q14721_781_I
Q14721	KCNB1	481	H	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	H482N	False	False	False	False	False	Q14721_481_N
O43526	KCNQ2	573	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G574S	False	False	False	False	False	O43526_573_S
O43526	KCNQ2	186	S	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S187F	False	False	False	False	False	O43526_186_F
Q05639	EEF1A2	91	A	T	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	A92T	False	False	False	False	False	Q05639_91_T
P12109	COL6A1	21	E	K	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E22K	True	False	False	False	True	P12109_21_K
P12109	COL6A1	887	R	P	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R888P	False	False	False	False	False	P12109_887_P
Q8TAB3	PCDH19	560	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P561L	False	False	False	False	False	Q8TAB3_560_L
Q8TAB3	PCDH19	148	P	S	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P149S	False	False	False	False	False	Q8TAB3_148_S
Q9NP73	ALG13	206	G	E	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	G207E	False	False	False	False	False	Q9NP73_206_E
P11532	DMD	1322	I	F	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	I1323F	False	False	False	False	False	P11532_1322_F
P11532	DMD	907	D	E	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	D908E	False	False	False	False	False	P11532_907_E
P11532	DMD	108	G	A	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	G109A	False	False	False	False	False	P11532_108_A
P23378	GLDC	282	A	G	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A283G	False	False	False	False	False	P23378_282_G
Q8NI60	COQ8A	458	L	P	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	L459P	False	False	False	False	False	Q8NI60_458_P
P11166	SLC2A1	328	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	E329K	False	False	False	False	False	P11166_328_K
Q5JTZ9	AARS2	148	C	Y	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	C149Y	False	False	True	True	False	Q5JTZ9_148_Y
Q5JTZ9	AARS2	128	T	P	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	T129P	False	False	False	False	False	Q5JTZ9_128_P
P61764	STXBP1	144	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Y145C	False	True	False	True	False	P61764_144_C
Q9UQ90	SPG7	646	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	A647E	False	False	False	False	False	Q9UQ90_646_E
Q9Y4W6	AFG3L2	570	V	G	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	V571G	False	False	False	False	False	Q9Y4W6_570_G
A6NFY7	SDHAF1	56	G	E	1	ClinVar	no assertion criteria provided	0.008695652173913044	Succinate dehydrogenase assembly factor 1, mitocho	G57E	False	False	False	False	False	A6NFY7_56_E
Q13813	SPTAN1	1546	L	Q	1	ClinVar	no assertion criteria provided	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	L1547Q	False	False	False	False	False	Q13813_1546_Q
Q14315	FLNC	1620	I	F	1	ClinVar	no assertion criteria provided	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	I1621F	False	False	False	False	False	Q14315_1620_F
P12883	MYH7	523	I	M	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I524M	False	False	False	False	False	P12883_523_M
O75208	COQ9	24	V	M	1	ClinVar	no assertion criteria provided	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	V25M	True	False	False	False	True	O75208_24_M
P38606	ATP6V1A	549	M	T	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	M550T	False	False	False	False	False	P38606_549_T
P48728	AMT	221	R	L	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R222L	False	False	False	False	False	P48728_221_L
P61981	YWHAG	227	D	V	1	ClinVar	criteria provided, single submitter	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	D228V	False	False	False	False	False	P61981_227_V
Q9Y3A0	COQ4	0	M	T	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	M1T	True	False	False	False	True	Q9Y3A0_0_T
Q9UQD0	SCN8A	1469	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Q1470R	False	False	False	False	False	Q9UQD0_1469_R
P28472	GABRB3	165	R	G	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	R166G	False	False	False	False	False	P28472_165_G
Q13496	MTM1	377	G	V	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G378V	False	False	False	False	False	Q13496_377_V
Q99714	HSD17B10	28	R	G	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	R29G	True	False	False	False	True	Q99714_28_G
P68133	ACTA1	333	P	R	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P334R	False	False	False	False	False	P68133_333_R
P68133	ACTA1	133	M	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M134V	False	False	False	False	False	P68133_133_V
P23786	CPT2	150	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	R151W	False	False	False	False	False	P23786_150_W
P35498	SCN1A	328	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G329A	False	False	False	False	False	P35498_328_A
Q9UMS0	NFU1	181	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	R182Q	False	False	False	False	False	Q9UMS0_181_Q
Q9Y234	LIPT1	0	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	M1L	True	False	False	False	True	Q9Y234_0_L
P48728	AMT	0	M	T	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	M1T	True	False	False	False	True	P48728_0_T
Q9UQD0	SCN8A	1765	L	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1766R	False	False	False	False	False	Q9UQD0_1765_R
Q14721	KCNB1	378	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G379V	False	False	False	False	False	Q14721_378_V
Q00839	HNRNPU	468	I	V	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	I469V	False	False	False	False	False	Q00839_468_V
P11166	SLC2A1	478	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	P479T	False	False	False	False	False	P11166_478_T
P20929	NEB	8216	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8217C	False	True	False	True	False	P20929_8216_C
P20929	NEB	6742	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R6743C	False	True	False	True	False	P20929_6742_C
P20929	NEB	1775	Q	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q1776K	False	False	False	False	False	P20929_1775_K
Q99250	SCN2A	1328	A	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1329G	False	False	False	False	False	Q99250_1328_G
P35498	SCN1A	1811	W	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1812S	False	False	False	False	False	P35498_1811_S
P35498	SCN1A	1741	D	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1742Y	False	False	False	False	False	P35498_1741_Y
P12111	COL6A3	3016	P	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P3017T	False	False	False	False	False	P12111_3016_T
P12111	COL6A3	2072	R	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R2073H	False	False	False	False	False	P12111_2072_H
P12111	COL6A3	1591	L	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	L1592M	False	False	False	False	False	P12111_1591_M
P12111	COL6A3	269	E	D	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E270D	False	False	False	False	False	P12111_269_D
P12111	COL6A3	60	F	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	F61S	False	False	False	False	False	P12111_60_S
O60313	OPA1	289	R	Q	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	R290Q	False	False	False	False	False	O60313_289_Q
Q00577	PURA	89	E	Q	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	E90Q	False	False	False	False	False	Q00577_89_Q
Q4G0N4	NADK2	60	R	H	0	ClinVar	criteria provided, single submitter	0.02262443438914027	NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitocho	R61H	False	False	False	False	False	Q4G0N4_60_H
O60741	HCN1	127	K	R	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	K128R	False	False	False	False	False	O60741_127_R
O60741	HCN1	87	R	G	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R88G	False	False	False	False	False	O60741_87_G
Q99715	COL12A1	2890	E	K	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	E2891K	False	False	False	False	False	Q99715_2890_K
Q99715	COL12A1	1915	V	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V1916I	False	False	False	False	False	Q99715_1915_I
Q99715	COL12A1	1736	L	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	L1737V	False	False	False	False	False	Q99715_1736_V
Q99715	COL12A1	1598	R	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R1599Q	False	False	False	False	False	Q99715_1598_Q
Q99715	COL12A1	881	S	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S882A	False	False	False	False	False	Q99715_881_A
Q99715	COL12A1	248	T	M	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T249M	False	False	False	False	False	Q99715_248_M
Q14315	FLNC	607	I	V	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	I608V	False	False	False	False	False	Q14315_607_V
Q14315	FLNC	1803	M	I	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	M1804I	False	False	False	False	False	Q14315_1803_I
Q14315	FLNC	2174	T	P	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T2175P	False	False	False	False	False	Q14315_2174_P
P61764	STXBP1	154	S	N	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	S155N	False	False	False	False	False	P61764_154_N
Q5T481	RBM20	745	P	L	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P746L	False	False	False	False	False	Q5T481_745_L
Q5T481	RBM20	1041	T	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	T1042I	False	False	False	False	False	Q5T481_1041_I
Q13224	GRIN2B	1180	H	Q	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	H1181Q	False	False	False	False	False	Q13224_1180_Q
Q9UQD0	SCN8A	366	M	T	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M367T	False	False	False	False	False	Q9UQD0_366_T
Q9UQD0	SCN8A	760	I	V	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I761V	False	False	False	False	False	Q9UQD0_760_V
Q8NCM2	KCNH5	332	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R333H	False	False	False	False	False	Q8NCM2_332_H
P13637	ATP1A3	714	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	L715P	False	False	False	False	False	P13637_714_P
Q14721	KCNB1	324	R	Q	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R325Q	False	False	False	False	False	Q14721_324_Q
O43526	KCNQ2	341	S	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S342L	False	False	False	False	False	O43526_341_L
P12109	COL6A1	471	I	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	I472L	False	False	False	False	False	P12109_471_L
P12109	COL6A1	637	V	I	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V638I	False	False	False	False	False	P12109_637_I
Q8TAB3	PCDH19	413	E	K	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E414K	False	False	False	False	False	Q8TAB3_413_K
O76039	CDKL5	126	H	D	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H127D	False	False	False	False	False	O76039_126_D
O76039	CDKL5	137	P	A	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P138A	False	False	False	False	False	O76039_137_A
O76039	CDKL5	141	L	V	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L142V	False	False	False	False	False	O76039_141_V
P11532	DMD	3604	K	N	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	K3605N	False	False	False	False	False	P11532_3604_N
Q9GZZ9	UBA5	253	L	P	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	L254P	False	False	False	False	False	Q9GZZ9_253_P
P10589	NR2F1	95	K	E	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	K96E	False	False	False	True	False	P10589_95_E
O14529	CUX2	253	E	K	0	ClinVar	no assertion criteria provided	0.006056527590847914	Homeobox protein cut-like 2 (Homeobox protein cux-	E254K	False	False	False	False	False	O14529_253_K
P35498	SCN1A	1860	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1861W	False	False	False	False	False	P35498_1860_W
O43526	KCNQ2	223	V	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V224L	False	False	False	False	False	O43526_223_L
P51788	CLCN2	652	R	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01893095768374165	Chloride channel protein 2 (ClC-2)	R653T	False	False	False	False	False	P51788_652_T
P16389	KCNA2	178	S	N	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	S179N	False	False	False	False	False	P16389_178_N
O95140	MFN2	233	M	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M234V	False	False	False	False	False	O95140_233_V
P68133	ACTA1	37	G	D	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G38D	True	False	False	False	True	P68133_37_D
Q00839	HNRNPU	219	G	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G220V	False	False	False	False	False	Q00839_219_V
P20929	NEB	8336	V	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V8337I	False	False	False	False	False	P20929_8336_I
P20929	NEB	6075	V	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V6076L	False	False	False	False	False	P20929_6075_L
P20929	NEB	2536	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K2537T	False	False	False	False	False	P20929_2536_T
P20929	NEB	1471	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y1472H	False	False	False	False	False	P20929_1471_H
P20929	NEB	1226	K	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1227Q	False	False	False	False	False	P20929_1226_Q
P20929	NEB	1074	A	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1075D	False	False	False	False	False	P20929_1074_D
P20929	NEB	1069	A	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1070G	False	False	False	False	False	P20929_1069_G
P20929	NEB	696	A	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A697S	False	False	False	False	False	P20929_696_S
P20929	NEB	446	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M447V	False	False	False	False	False	P20929_446_V
Q99250	SCN2A	305	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T306S	False	False	False	False	False	Q99250_305_S
P35498	SCN1A	1774	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1775P	False	False	False	False	False	P35498_1774_P
P35498	SCN1A	1693	Y	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1694D	False	False	False	False	False	P35498_1693_D
P35498	SCN1A	1219	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1220L	False	False	False	False	False	P35498_1219_L
P35498	SCN1A	656	P	T	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P657T	False	False	False	False	False	P35498_656_T
P35498	SCN1A	399	M	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M400T	False	False	False	False	False	P35498_399_T
P35498	SCN1A	389	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L390P	False	False	False	False	False	P35498_389_P
P35498	SCN1A	382	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F383L	False	False	False	False	False	P35498_382_L
P35498	SCN1A	288	E	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E289V	False	False	False	False	False	P35498_288_V
P12111	COL6A3	1467	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1468V	False	False	False	False	False	P12111_1467_V
P12111	COL6A3	21	T	A	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	T22A	True	False	False	False	True	P12111_21_A
Q99715	COL12A1	699	N	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	N700S	False	False	False	False	False	Q99715_699_S
Q99715	COL12A1	141	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	V142I	False	False	False	False	False	Q99715_141_I
P61764	STXBP1	535	R	C	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R536C	False	True	False	True	False	P61764_535_C
P23378	GLDC	617	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G618R	False	False	False	False	False	P23378_617_R
Q5T481	RBM20	235	S	C	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S236C	False	True	False	True	False	Q5T481_235_C
Q5T481	RBM20	783	R	M	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R784M	False	False	False	False	False	Q5T481_783_M
Q96D31	ORAI1	254	V	I	0	ClinVar	criteria provided, single submitter	0.009966777408637873	Calcium release-activated calcium channel protein 	V255I	False	False	False	False	False	Q96D31_254_I
Q13224	GRIN2B	1171	P	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1172S	False	False	False	False	False	Q13224_1171_S
Q13224	GRIN2B	1113	P	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1114S	False	False	False	False	False	Q13224_1113_S
Q13224	GRIN2B	826	A	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A827T	False	False	False	False	False	Q13224_826_T
Q9UQD0	SCN8A	242	A	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A243S	False	False	False	False	False	Q9UQD0_242_S
Q9UQD0	SCN8A	1845	D	E	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D1846E	False	False	False	False	False	Q9UQD0_1845_E
P05165	PCCA	550	V	I	0	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	V551I	False	False	False	False	False	P05165_550_I
P12883	MYH7	1780	R	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1781L	False	False	False	False	False	P12883_1780_L
P12883	MYH7	658	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M659I	False	False	False	False	False	P12883_658_I
C9JR72	KBTBD13	319	V	M	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	V320M	False	False	False	True	False	C9JR72_319_M
P54098	POLG	861	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A862V	False	False	False	False	False	P54098_861_V
O14647	CHD2	899	R	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R900G	False	False	False	False	False	O14647_899_G
Q9NZC7	WWOX	180	T	I	0	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	T181I	False	False	False	False	False	Q9NZC7_180_I
Q9NZC7	WWOX	288	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	A289V	False	False	False	False	False	Q9NZC7_288_V
O00555	CACNA1A	2027	P	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P2028L	False	False	False	False	False	O00555_2027_L
O00555	CACNA1A	1208	R	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1209L	False	False	False	False	False	O00555_1208_L
O00555	CACNA1A	627	A	T	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A628T	False	False	False	False	False	O00555_627_T
Q14721	KCNB1	416	S	P	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S417P	False	False	False	False	False	Q14721_416_P
Q14721	KCNB1	306	I	V	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I307V	False	False	False	False	False	Q14721_306_V
O43526	KCNQ2	303	F	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F304C	False	True	False	True	False	O43526_303_C
P12110	COL6A2	612	A	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	A613T	False	False	False	False	False	P12110_612_T
P12110	COL6A2	699	G	S	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G700S	False	False	False	False	False	P12110_699_S
P12110	COL6A2	748	D	N	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	D749N	False	False	False	False	False	P12110_748_N
P12110	COL6A2	800	M	V	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	M801V	False	False	False	False	False	P12110_800_V
Q8TAB3	PCDH19	432	L	M	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	L433M	False	False	False	False	False	Q8TAB3_432_M
O76039	CDKL5	72	V	M	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V73M	False	False	False	False	False	O76039_72_M
O76039	CDKL5	253	H	R	0	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H254R	False	False	False	False	False	O76039_253_R
O76039	CDKL5	636	A	G	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A637G	False	False	False	False	False	O76039_636_G
P11532	DMD	1893	D	E	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	D1894E	False	False	False	False	False	P11532_1893_E
P11532	DMD	1576	R	Q	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	R1577Q	False	False	False	False	False	P11532_1576_Q
P11532	DMD	669	T	S	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	T670S	False	False	False	False	False	P11532_669_S
O14647	CHD2	811	I	T	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	I812T	False	False	False	False	False	O14647_811_T
P51970	NDUFA8	46	R	C	1	ClinVar	no assertion criteria provided	0.046511627906976744	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R47C	True	True	False	True	True	P51970_46_C
P51970	NDUFA8	97	R	L	1	ClinVar	no assertion criteria provided	0.046511627906976744	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R98L	False	False	False	True	False	P51970_97_L
P61764	STXBP1	416	G	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G417R	False	False	False	False	False	P61764_416_R
Q9UM47	NOTCH3	322	C	S	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C323S	False	False	True	True	False	Q9UM47_322_S
Q5JTZ9	AARS2	281	S	C	1	ClinVar	no assertion criteria provided	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	S282C	False	True	False	True	False	Q5JTZ9_281_C
P35498	SCN1A	1325	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1326D	False	False	False	False	False	P35498_1325_D
P35498	SCN1A	372	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L373S	False	False	False	False	False	P35498_372_S
Q5T481	RBM20	597	Q	P	1	ClinVar	no assertion criteria provided	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	Q598P	False	False	False	False	False	Q5T481_597_P
P12883	MYH7	876	M	T	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M877T	False	False	False	False	False	P12883_876_T
P61764	STXBP1	261	D	V	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	D262V	False	False	False	False	False	P61764_261_V
P16389	KCNA2	406	P	R	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	P407R	False	False	False	False	False	P16389_406_R
P16389	KCNA2	403	L	I	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	L404I	False	False	False	False	False	P16389_403_I
P16389	KCNA2	299	R	S	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R300S	False	False	False	False	False	P16389_299_S
O95140	MFN2	275	Q	H	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	Q276H	False	False	False	False	False	O95140_275_H
P21912	SDHB	185	C	Y	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C186Y	False	False	True	True	False	P21912_185_Y
P23786	CPT2	478	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013677811550151976	Carnitine O-palmitoyltransferase 2, mitochondrial 	Y479C	False	True	False	True	False	P23786_478_C
Q99250	SCN2A	195	F	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F196V	False	False	False	False	False	Q99250_195_V
Q99250	SCN2A	1500	M	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1501V	False	False	False	False	False	Q99250_1500_V
P35498	SCN1A	1922	Q	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1923H	False	False	False	False	False	P35498_1922_H
P35498	SCN1A	1741	D	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1742N	False	False	False	False	False	P35498_1741_N
P35498	SCN1A	1726	D	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1727H	False	False	False	False	False	P35498_1726_H
P35498	SCN1A	1678	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1679P	False	False	False	False	False	P35498_1678_P
P35498	SCN1A	1560	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1561K	False	False	False	False	False	P35498_1560_K
P35498	SCN1A	1544	I	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1545K	False	False	False	False	False	P35498_1544_K
P35498	SCN1A	1518	P	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1519S	False	False	False	False	False	P35498_1518_S
P35498	SCN1A	1493	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1494E	False	False	False	False	False	P35498_1493_E
P35498	SCN1A	967	C	W	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C968W	False	False	True	True	False	P35498_967_W
P35498	SCN1A	949	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G950R	False	False	False	False	False	P35498_949_R
P35498	SCN1A	931	W	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W932C	False	True	False	True	False	P35498_931_C
P35498	SCN1A	930	R	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R931G	False	False	False	False	False	P35498_930_G
P35498	SCN1A	784	M	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M785I	False	False	False	False	False	P35498_784_I
P35498	SCN1A	332	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A333T	False	False	False	False	False	P35498_332_T
P35498	SCN1A	57	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G58R	False	False	False	False	False	P35498_57_R
P17661	DES	0	M	T	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	M1T	True	False	False	False	True	P17661_0_T
P40939	HADHA	675	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	R676C	False	True	False	True	False	P40939_675_C
P05166	PCCB	0	M	T	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	M1T	True	False	False	False	True	P05166_0_T
Q96RP9	GFM1	670	R	H	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	R671H	False	False	False	False	False	Q96RP9_670_H
P63316	TNNC1	55	E	D	1	ClinVar	criteria provided, single submitter	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	E56D	False	False	False	False	False	P63316_55_D
O95363	FARS2	0	M	I	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	M1I	True	False	False	False	True	O95363_0_I
P08243	ASNS	0	M	V	1	ClinVar	criteria provided, single submitter	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	M1V	True	False	False	False	True	P08243_0_V
Q05193	DNM1	575	E	K	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	E576K	False	False	False	False	False	Q05193_575_K
P23378	GLDC	892	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P893L	False	False	False	False	False	P23378_892_L
P23378	GLDC	767	G	A	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G768A	False	False	False	False	False	P23378_767_A
P23378	GLDC	615	N	I	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N616I	False	False	False	False	False	P23378_615_I
O00429	DNM1L	366	C	R	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	C367R	False	False	True	True	False	O00429_366_R
P12883	MYH7	876	M	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M877K	False	False	False	False	False	P12883_876_K
P09493	TPM1	236	T	S	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	T237S	False	False	False	False	False	P09493_236_S
O14647	CHD2	1073	R	W	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1074W	False	False	False	False	False	O14647_1073_W
O14647	CHD2	1271	G	E	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1272E	False	False	False	False	False	O14647_1271_E
Q9ULP9	TBC1D24	38	A	P	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	A39P	True	False	False	True	True	Q9ULP9_38_P
P21817	RYR1	1074	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R1075W	False	False	False	False	False	P21817_1074_W
Q9H6K4	OPA3	0	M	V	1	ClinVar	criteria provided, single submitter	0.01675977653631285	Optic atrophy 3 protein	M1V	True	False	False	False	True	Q9H6K4_0_V
P60880	SNAP25	197	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	R198P	False	False	False	False	False	P60880_197_P
Q14721	KCNB1	320	G	S	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G321S	False	False	False	False	False	Q14721_320_S
Q14721	KCNB1	318	S	Y	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S319Y	False	False	False	False	False	Q14721_318_Y
O43526	KCNQ2	582	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K583N	False	False	False	False	False	O43526_582_N
O43526	KCNQ2	539	I	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I540V	False	False	False	False	False	O43526_539_V
O43526	KCNQ2	323	H	Y	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	H324Y	False	False	False	False	False	O43526_323_Y
O43526	KCNQ2	305	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A306E	False	False	False	False	False	O43526_305_E
O43526	KCNQ2	197	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R198P	False	False	False	False	False	O43526_197_P
P12110	COL6A2	261	G	V	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G262V	False	False	False	False	False	P12110_261_V
P12110	COL6A2	620	D	H	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	D621H	False	False	False	False	False	P12110_620_H
Q8TAB3	PCDH19	231	N	K	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	N232K	False	False	False	False	False	Q8TAB3_231_K
Q8TAB3	PCDH19	123	D	A	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D124A	False	False	False	False	False	Q8TAB3_123_A
Q8TAB3	PCDH19	0	M	I	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	M1I	True	False	False	False	True	Q8TAB3_0_I
O76039	CDKL5	85	Y	D	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Y86D	False	False	False	False	False	O76039_85_D
P68133	ACTA1	280	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Y281H	False	False	False	False	False	P68133_280_H
P68133	ACTA1	199	Y	C	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Y200C	False	True	False	True	False	P68133_199_C
Q99250	SCN2A	262	A	T	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A263T	False	False	False	False	False	Q99250_262_T
Q99250	SCN2A	1595	I	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1596S	False	False	False	False	False	Q99250_1595_S
P35498	SCN1A	1682	I	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1683T	False	False	False	False	False	P35498_1682_T
P35498	SCN1A	1615	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1616T	False	False	False	False	False	P35498_1615_T
P35498	SCN1A	1427	V	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1428D	False	False	False	False	False	P35498_1427_D
P35498	SCN1A	270	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G271V	False	False	False	False	False	P35498_270_V
P35498	SCN1A	80	D	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D81E	False	False	False	False	False	P35498_80_E
Q9Y276	BCS1L	305	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R306H	False	False	False	False	False	Q9Y276_305_H
P05166	PCCB	245	G	V	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G246V	False	False	False	False	False	P05166_245_V
P05166	PCCB	381	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	D382E	False	False	False	False	False	P05166_381_E
P48728	AMT	105	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	I106T	False	False	False	False	False	P48728_105_T
P48728	AMT	0	M	K	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	M1K	True	False	False	False	True	P48728_0_K
P47870	GABRB2	300	Y	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	Y301F	False	False	False	False	False	P47870_300_F
O60741	HCN1	390	G	V	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G391V	False	False	False	False	False	O60741_390_V
Q5T160	RARS2	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1I	True	False	False	False	True	Q5T160_0_I
Q9UJS0	SLC25A13	354	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	R355G	False	False	False	False	False	Q9UJS0_354_G
P23378	GLDC	865	D	H	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	D866H	False	False	False	False	False	P23378_865_H
P23378	GLDC	290	C	Y	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C291Y	False	False	True	True	False	P23378_290_Y
P23378	GLDC	0	M	K	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	M1K	True	False	False	False	True	P23378_0_K
O75899	GABBR2	566	A	V	1	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A567V	False	False	False	False	False	O75899_566_V
Q9UQD0	SCN8A	1314	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1315M	False	False	False	False	False	Q9UQD0_1314_M
P12883	MYH7	1596	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1597P	False	False	False	False	False	P12883_1596_P
Q9UQ90	SPG7	0	M	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M1K	True	False	False	False	True	Q9UQ90_0_K
P35499	SCN4A	202	M	K	1	ClinVar	criteria provided, single submitter	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	M203K	False	False	False	False	False	P35499_202_K
O00555	CACNA1A	1504	F	S	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	F1505S	False	False	False	False	False	O00555_1504_S
P13637	ATP1A3	357	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G358D	False	False	False	False	False	P13637_357_D
O43526	KCNQ2	354	D	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D355G	False	False	False	False	False	O43526_354_G
O43526	KCNQ2	244	L	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L245P	False	False	False	False	False	O43526_244_P
P12109	COL6A1	274	G	R	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G275R	False	False	False	False	False	P12109_274_R
Q8TAB3	PCDH19	560	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P561S	False	False	False	False	False	Q8TAB3_560_S
Q8TAB3	PCDH19	446	N	D	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	N447D	False	False	False	False	False	Q8TAB3_446_D
Q8TAB3	PCDH19	340	D	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D341G	False	False	False	False	False	Q8TAB3_340_G
Q8TAB3	PCDH19	248	E	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E249G	False	False	False	False	False	Q8TAB3_248_G
O76039	CDKL5	64	R	P	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R65P	False	False	False	False	False	O76039_64_P
O76039	CDKL5	177	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R178G	False	False	False	False	False	O76039_177_G
Q14683	SMC1A	710	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	R711Q	False	False	False	False	False	Q14683_710_Q
P02545	LMNA	330	R	L	1	ClinVar	no assertion criteria provided	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R331L	False	False	False	False	False	P02545_330_L
P16389	KCNA2	26	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	A27T	True	False	False	False	True	P16389_26_T
Q15878	CACNA1E	2156	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2157Q	False	False	False	False	False	Q15878_2156_Q
Q00839	HNRNPU	791	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N792S	False	False	False	False	False	Q00839_791_S
Q96N67	DOCK7	1421	T	P	0	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	T1422P	False	False	False	False	False	Q96N67_1421_P
P35498	SCN1A	36	P	T	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P37T	True	False	False	False	True	P35498_36_T
O75746	SLC25A12	467	A	T	0	ClinVar	criteria provided, single submitter	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	A468T	False	False	False	False	False	O75746_467_T
P40939	HADHA	559	R	Q	0	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	R560Q	False	False	False	False	False	P40939_559_Q
P31483	TIA1	230	R	S	0	ClinVar	criteria provided, single submitter	0.015544041450777202	Cytotoxic granule associated RNA binding protein T	R231S	False	False	False	False	False	P31483_230_S
Q9UBF9	MYOT	314	A	T	0	ClinVar	criteria provided, single submitter	0.014056224899598393	Myotilin (57 kDa cytoskeletal protein) (Myofibrill	A315T	False	False	False	False	False	Q9UBF9_314_T
P61764	STXBP1	261	D	E	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	D262E	False	False	False	False	False	P61764_261_E
Q05193	DNM1	314	K	N	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	K315N	False	False	False	False	False	Q05193_314_N
P23378	GLDC	482	D	N	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	D483N	False	False	False	False	False	P23378_482_N
O75899	GABBR2	260	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A261T	False	False	False	False	False	O75899_260_T
Q13418	ILK	272	P	R	0	ClinVar	criteria provided, single submitter	0.01991150442477876	Scaffold protein ILK (ILK-1) (ILK-2) (Inactive int	P273R	False	False	False	False	False	Q13418_272_R
Q13224	GRIN2B	941	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T942M	False	False	False	False	False	Q13224_941_M
Q13224	GRIN2B	902	R	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R903H	False	False	False	False	False	Q13224_902_H
Q5BKY1	LRRC10	163	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02888086642599278	Leucine-rich repeat-containing protein 10	R164Q	False	False	False	False	False	Q5BKY1_163_Q
P49327	FASN	1900	A	T	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	A1901T	False	False	False	False	False	P49327_1900_T
P49327	FASN	881	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	G882D	False	False	False	False	False	P49327_881_D
Q14721	KCNB1	741	T	K	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T742K	False	False	False	False	False	Q14721_741_K
Q14721	KCNB1	705	A	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A706S	False	False	False	False	False	Q14721_705_S
Q05639	EEF1A2	212	G	V	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	G213V	False	False	False	False	False	Q05639_212_V
O43426	SYNJ1	1211	A	V	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	A1212V	False	False	False	False	False	O43426_1211_V
P57059	SIK1	466	S	I	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	S467I	False	False	False	False	False	P57059_466_I
P12109	COL6A1	1000	S	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S1001N	False	False	False	False	False	P12109_1000_N
Q9NNW7	TXNRD2	499	C	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.022900763358778626	Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9	C500F	False	False	True	True	False	Q9NNW7_499_F
Q9NP73	ALG13	296	S	G	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S297G	False	False	False	False	False	Q9NP73_296_G
Q9NP73	ALG13	644	Q	P	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Q645P	False	False	False	False	False	Q9NP73_644_P
Q99250	SCN2A	1497	Y	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Y1498S	False	False	False	False	False	Q99250_1497_S
P35498	SCN1A	1533	V	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1534D	False	False	False	False	False	P35498_1533_D
P35498	SCN1A	421	V	L	1	ClinVar	no assertion criteria provided	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V422L	False	False	False	False	False	P35498_421_L
Q13224	GRIN2B	916	S	A	0	ClinVar	no assertion criteria provided	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S917A	False	False	False	False	False	Q13224_916_A
Q15878	CACNA1E	1746	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	V1747I	False	False	False	False	False	Q15878_1746_I
Q15878	CACNA1E	2119	R	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2120K	False	False	False	False	False	Q15878_2119_K
P35609	ACTN2	862	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	I863V	False	False	False	False	False	P35609_862_V
P49792	RANBP2	2470	V	I	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	V2471I	False	False	False	False	False	P49792_2470_I
P20929	NEB	6583	M	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M6584R	False	False	False	False	False	P20929_6583_R
P35498	SCN1A	1877	E	D	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1878D	False	False	False	False	False	P35498_1877_D
P35498	SCN1A	1165	Q	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1166K	False	False	False	False	False	P35498_1165_K
P35498	SCN1A	761	N	H	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N762H	False	False	False	False	False	P35498_761_H
P12111	COL6A3	364	G	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G365R	False	False	False	False	False	P12111_364_R
P40939	HADHA	718	R	H	0	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	R719H	False	False	False	False	False	P40939_718_H
P46976	GYG1	115	D	E	0	ClinVar	criteria provided, single submitter	0.017142857142857144	Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)	D116E	False	False	False	False	False	P46976_115_E
O60741	HCN1	692	I	V	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	I693V	False	False	False	False	False	O60741_692_V
O60741	HCN1	199	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	N200S	False	False	False	False	False	O60741_199_S
Q9Y6H1	CHCHD2	13	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026490066225165563	Coiled-coil-helix-coiled-coil-helix domain-contain	P14S	True	False	False	False	True	Q9Y6H1_13_S
Q05193	DNM1	0	M	I	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	M1I	True	False	False	False	True	Q05193_0_I
Q13813	SPTAN1	1240	D	G	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	D1241G	False	False	False	False	False	Q13813_1240_G
O75899	GABBR2	461	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	E462K	False	False	False	False	False	O75899_461_K
Q13224	GRIN2B	1098	R	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1099H	False	False	False	False	False	Q13224_1098_H
Q9UQD0	SCN8A	1038	E	G	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	E1039G	False	False	False	False	False	Q9UQD0_1038_G
Q9UQD0	SCN8A	1086	I	M	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1087M	False	False	False	False	False	Q9UQD0_1086_M
Q96MF2	STAC3	172	R	H	0	ClinVar	criteria provided, single submitter	0.019230769230769232	SH3 and cysteine-rich domain-containing protein 3	R173H	False	False	False	False	False	Q96MF2_172_H
Q15413	RYR3	3094	D	G	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	D3095G	False	False	False	False	False	Q15413_3094_G
Q15413	RYR3	4012	C	R	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	C4013R	False	False	True	True	False	Q15413_4012_R
Q15413	RYR3	4477	R	C	0	ClinVar	criteria provided, single submitter	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R4478C	False	True	False	True	False	Q15413_4477_C
O14647	CHD2	62	Q	H	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Q63H	False	False	False	False	False	O14647_62_H
O00555	CACNA1A	875	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G876S	False	False	False	False	False	O00555_875_S
Q3ZCQ8	TIMM50	347	P	S	0	ClinVar	criteria provided, single submitter	0.0113314447592068	Mitochondrial import inner membrane translocase su	P348S	False	False	False	False	False	Q3ZCQ8_347_S
Q14721	KCNB1	153	T	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T154I	False	False	False	False	False	Q14721_153_I
Q05639	EEF1A2	9	I	F	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	I10F	True	False	False	False	True	Q05639_9_F
O43426	SYNJ1	969	S	T	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	S970T	False	False	False	False	False	O43426_969_T
O43426	SYNJ1	348	S	G	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	S349G	False	False	False	False	False	O43426_348_G
P57059	SIK1	533	S	F	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	S534F	False	False	False	False	False	P57059_533_F
Q9NP73	ALG13	868	A	T	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	A869T	False	False	False	False	False	Q9NP73_868_T
Q9NP73	ALG13	961	P	S	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	P962S	False	False	False	False	False	Q9NP73_961_S
O76039	CDKL5	549	R	Q	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R550Q	False	False	False	False	False	O76039_549_Q
Q96QS3	ARX	45	A	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	A46D	True	False	False	False	True	Q96QS3_45_D
Q96RP9	GFM1	607	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	R608Q	False	False	False	False	False	Q96RP9_607_Q
Q96RP9	GFM1	136	V	M	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	V137M	False	False	False	False	False	Q96RP9_136_M
P46459	NSF	458	A	T	1	ClinVar	no assertion criteria provided	0.012096774193548387	Vesicle-fusing ATPase (EC 3.6.4.6) (N-ethylmaleimi	A459T	False	False	False	False	False	P46459_458_T
P46459	NSF	562	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012096774193548387	Vesicle-fusing ATPase (EC 3.6.4.6) (N-ethylmaleimi	P563L	False	False	False	False	False	P46459_562_L
Q9UKA2	FBXL4	99	Y	C	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	Y100C	False	True	False	True	False	Q9UKA2_99_C
P21817	RYR1	1161	T	I	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	T1162I	False	False	False	False	False	P21817_1161_I
P16389	KCNA2	461	Q	R	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	Q462R	False	False	False	False	False	P16389_461_R
Q8IWE5	PLEKHM2	418	G	R	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	G419R	False	False	False	False	False	Q8IWE5_418_R
P49792	RANBP2	1443	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	A1444V	False	False	False	False	False	P49792_1443_V
P35498	SCN1A	1532	M	I	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1533I	False	False	False	False	False	P35498_1532_I
P12111	COL6A3	1201	S	Y	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S1202Y	False	False	False	False	False	P12111_1201_Y
Q9H845	ACAD9	84	R	Q	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R85Q	False	False	False	False	False	Q9H845_84_Q
Q9H845	ACAD9	231	V	I	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	V232I	False	False	False	False	False	Q9H845_231_I
O60741	HCN1	886	A	T	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A887T	False	False	False	False	False	O60741_886_T
Q16363	LAMA4	300	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	V301I	False	False	False	False	False	Q16363_300_I
Q9Y2Z2	MTO1	62	L	V	0	ClinVar	criteria provided, single submitter	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	L63V	False	False	False	False	False	Q9Y2Z2_62_V
Q13813	SPTAN1	15	Q	R	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q16R	True	False	False	False	True	Q13813_15_R
Q13813	SPTAN1	735	G	D	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	G736D	False	False	False	False	False	Q13813_735_D
Q13813	SPTAN1	992	I	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	I993T	False	False	False	False	False	Q13813_992_T
Q13813	SPTAN1	1170	Q	R	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q1171R	False	False	False	False	False	Q13813_1170_R
P23378	GLDC	103	P	T	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P104T	False	False	False	False	False	P23378_103_T
O75899	GABBR2	925	R	P	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R926P	False	False	False	False	False	O75899_925_P
O75899	GABBR2	851	A	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A852V	False	False	False	False	False	O75899_851_V
O75899	GABBR2	372	M	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	M373V	False	False	False	False	False	O75899_372_V
O75899	GABBR2	254	F	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	F255S	False	False	False	False	False	O75899_254_S
Q5T481	RBM20	403	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G404S	False	False	False	False	False	Q5T481_403_S
Q15652	JMJD1C	1001	N	H	0	ClinVar	criteria provided, single submitter	0.014173228346456693	Probable JmjC domain-containing histone demethylat	N1002H	False	False	False	False	False	Q15652_1001_H
Q13224	GRIN2B	1144	H	Y	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	H1145Y	False	False	False	False	False	Q13224_1144_Y
Q9UQD0	SCN8A	692	R	W	0	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R693W	False	False	False	False	False	Q9UQD0_692_W
C9JR72	KBTBD13	130	D	N	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	D131N	False	False	False	True	False	C9JR72_130_N
O14647	CHD2	17	N	S	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N18S	True	False	False	False	True	O14647_17_S
O14647	CHD2	1575	K	R	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K1576R	False	False	False	False	False	O14647_1575_R
P49327	FASN	897	T	M	0	ClinVar	criteria provided, single submitter	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	T898M	False	False	False	False	False	P49327_897_M
Q3ZCQ8	TIMM50	55	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0113314447592068	Mitochondrial import inner membrane translocase su	G56A	False	False	False	False	False	Q3ZCQ8_55_A
Q3ZCQ8	TIMM50	120	D	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0113314447592068	Mitochondrial import inner membrane translocase su	D121V	False	False	False	False	False	Q3ZCQ8_120_V
Q9NP73	ALG13	181	C	S	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	C182S	False	False	True	True	False	Q9NP73_181_S
Q9NP73	ALG13	798	R	C	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	R799C	False	True	False	True	False	Q9NP73_798_C
P51608	MECP2	305	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	R306Q	False	False	False	False	False	P51608_305_Q
P08559	PDHA1	41	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D42E	True	False	False	True	True	P08559_41_E
P11532	DMD	1599	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	V1600L	False	False	False	False	False	P11532_1599_L
Q15878	CACNA1E	1903	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	P1904L	False	False	False	False	False	Q15878_1903_L
Q8NI60	COQ8A	186	R	C	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R187C	False	True	False	True	False	Q8NI60_186_C
Q5T011	SZT2	1279	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	A1280T	False	False	False	False	False	Q5T011_1279_T
P35498	SCN1A	1241	I	V	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1242V	False	False	False	False	False	P35498_1241_V
P35498	SCN1A	759	V	L	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V760L	False	False	False	False	False	P35498_759_L
O60662	KLHL41	585	R	C	0	ClinVar	criteria provided, single submitter	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	R586C	False	True	False	True	False	O60662_585_C
Q9H845	ACAD9	218	L	Q	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	L219Q	False	False	False	False	False	Q9H845_218_Q
Q2TBA0	KLHL40	289	A	D	0	ClinVar	criteria provided, single submitter	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	A290D	False	False	False	False	False	Q2TBA0_289_D
Q16363	LAMA4	1220	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	L1221V	False	False	False	False	False	Q16363_1220_V
Q5T160	RARS2	322	A	V	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	A323V	False	False	False	False	False	Q5T160_322_V
P61764	STXBP1	274	R	W	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R275W	False	False	False	False	False	P61764_274_W
P61764	STXBP1	426	I	M	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I427M	False	False	False	False	False	P61764_426_M
Q13813	SPTAN1	130	W	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	W131R	False	False	False	False	False	Q13813_130_R
Q13813	SPTAN1	1300	Q	H	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	Q1301H	False	False	False	False	False	Q13813_1300_H
Q16620	NTRK2	166	S	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0267639902676399	BDNF/NT-3 growth factors receptor (EC 2.7.10.1) (G	S167Y	False	False	False	False	False	Q16620_166_Y
O75899	GABBR2	581	F	L	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	F582L	False	False	False	False	False	O75899_581_L
O76041	NEBL	883	H	Y	0	ClinVar	criteria provided, single submitter	0.0039447731755424065	Nebulette (Actin-binding Z-disk protein)	H884Y	False	False	False	False	False	O76041_883_Y
Q5BKY1	LRRC10	144	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02888086642599278	Leucine-rich repeat-containing protein 10	L145P	False	False	False	False	False	Q5BKY1_144_P
P09471	GNAO1	85	R	Q	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R86Q	False	False	False	False	False	P09471_85_Q
Q96L12	CALR3	253	P	L	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Calreticulin-3 (Calreticulin-2) (Calsperin)	P254L	False	False	False	False	False	Q96L12_253_L
Q5TEU4	NDUFAF5	13	P	A	0	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	P14A	True	False	False	False	True	Q5TEU4_13_A
Q14721	KCNB1	501	K	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K502N	False	False	False	False	False	Q14721_501_N
P12109	COL6A1	87	A	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A88T	False	False	False	False	False	P12109_87_T
Q9NP73	ALG13	180	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	T181A	False	False	False	False	False	Q9NP73_180_A
P08559	PDHA1	44	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R45Q	True	False	False	True	True	P08559_44_Q
Q15049	MLC1	82	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	L83F	False	False	False	False	False	Q15049_82_F
Q92901	RPL3L	307	D	V	1	ClinVar	criteria provided, single submitter	0.014742014742014743	Ribosomal protein uL3-like (60S ribosomal protein 	D308V	False	False	False	False	False	Q92901_307_V
Q92901	RPL3L	342	R	W	1	ClinVar	no assertion criteria provided	0.014742014742014743	Ribosomal protein uL3-like (60S ribosomal protein 	R343W	False	False	False	False	False	Q92901_342_W
Q92901	RPL3L	188	T	M	1	ClinVar	no assertion criteria provided	0.014742014742014743	Ribosomal protein uL3-like (60S ribosomal protein 	T189M	False	False	False	False	False	Q92901_188_M
Q92901	RPL3L	160	R	W	1	ClinVar	no assertion criteria provided	0.014742014742014743	Ribosomal protein uL3-like (60S ribosomal protein 	R161W	False	False	False	False	False	Q92901_160_W
Q92901	RPL3L	115	R	H	1	ClinVar	no assertion criteria provided	0.014742014742014743	Ribosomal protein uL3-like (60S ribosomal protein 	R116H	False	False	False	False	False	Q92901_115_H
Q13224	GRIN2B	642	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	L643P	False	False	False	False	False	Q13224_642_P
P28472	GABRB3	224	F	L	1	ClinVar	no assertion criteria provided	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	F225L	False	False	False	False	False	P28472_224_L
O43526	KCNQ2	292	L	P	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L293P	False	False	False	False	False	O43526_292_P
P49588	AARS1	98	E	G	1	ClinVar	criteria provided, single submitter	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	E99G	False	False	False	False	False	P49588_98_G
P49588	AARS1	187	S	L	1	ClinVar	criteria provided, single submitter	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	S188L	False	False	False	False	False	P49588_187_L
P49588	AARS1	524	C	Y	1	ClinVar	criteria provided, single submitter	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	C525Y	False	False	True	True	False	P49588_524_Y
Q8NCW5	NAXE	18	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020833333333333332	NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipopr	V19L	True	False	False	False	True	Q8NCW5_18_L
Q8IWE5	PLEKHM2	31	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.029440628066732092	Pleckstrin homology domain-containing family M mem	I32T	True	False	False	False	True	Q8IWE5_31_T
Q8IWE5	PLEKHM2	440	S	C	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	S441C	False	True	False	True	False	Q8IWE5_440_C
Q15878	CACNA1E	1018	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	V1019M	False	False	False	False	False	Q15878_1018_M
Q15878	CACNA1E	1021	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	T1022M	False	False	False	False	False	Q15878_1021_M
Q9Y5C1	ANGPTL3;DOCK7	75	N	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008695652173913044	Angiopoietin-related protein 3 (Angiopoietin-5) (A	N76K	False	False	False	False	False	Q9Y5C1_75_K
P49792	RANBP2	1084	K	Q	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	K1085Q	False	False	False	False	False	P49792_1084_Q
P49792	RANBP2	2067	N	S	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	N2068S	False	False	False	False	False	P49792_2067_S
O00499	BIN1	513	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006745362563237774	Myc box-dependent-interacting protein 1 (Amphiphys	R514C	False	True	False	True	False	O00499_513_C
A2RRP1	NBAS	996	E	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	E997A	False	False	False	False	False	A2RRP1_996_A
A2RRP1	NBAS	654	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	K655R	False	False	False	False	False	A2RRP1_654_R
A2RRP1	NBAS	242	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	I243V	False	False	False	False	False	A2RRP1_242_V
Q5JTZ9	AARS2	338	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	I339V	False	False	False	False	False	Q5JTZ9_338_V
Q6PJG6	BRAT1	662	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	G663D	False	False	False	True	False	Q6PJG6_662_D
Q6PJG6	BRAT1	186	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	P187R	False	False	False	True	False	Q6PJG6_186_R
Q9BYZ6	RHOBTB2	709	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	P710L	False	False	False	False	False	Q9BYZ6_709_L
Q05193	DNM1	432	S	L	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	S433L	False	False	False	False	False	Q05193_432_L
Q05193	DNM1	443	K	E	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	K444E	False	False	False	False	False	Q05193_443_E
Q05193	DNM1	822	P	S	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	P823S	False	False	False	False	False	Q05193_822_S
Q9Y3A0	COQ4	49	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	G50A	True	False	False	False	True	Q9Y3A0_49_A
Q13813	SPTAN1	1094	M	L	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M1095L	False	False	False	False	False	Q13813_1094_L
Q13813	SPTAN1	1807	R	K	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	R1808K	False	False	False	False	False	Q13813_1807_K
O75899	GABBR2	868	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T869A	False	False	False	False	False	O75899_868_A
O75899	GABBR2	390	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T391M	False	False	False	False	False	O75899_390_M
O75899	GABBR2	238	S	N	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	S239N	False	False	False	False	False	O75899_238_N
Q15652	JMJD1C	2534	E	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	E2535D	False	False	False	False	False	Q15652_2534_D
Q15652	JMJD1C	463	S	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014173228346456693	Probable JmjC domain-containing histone demethylat	S464T	False	False	False	False	False	Q15652_463_T
A6NK58	LIPT2	189	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03896103896103896	Octanoyl-[acyl-carrier-protein]:protein N-octanoyl	T190S	False	False	False	True	False	A6NK58_189_S
Q96D31	ORAI1	44	P	A	0	ClinVar	criteria provided, single submitter	0.009966777408637873	Calcium release-activated calcium channel protein 	P45A	True	False	False	False	True	Q96D31_44_A
Q13224	GRIN2B	1364	N	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N1365H	False	False	False	False	False	Q13224_1364_H
Q13224	GRIN2B	1316	L	P	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	L1317P	False	False	False	False	False	Q13224_1316_P
Q13224	GRIN2B	1157	R	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1158L	False	False	False	False	False	Q13224_1157_L
Q13224	GRIN2B	1016	S	A	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S1017A	False	False	False	False	False	Q13224_1016_A
Q13224	GRIN2B	888	A	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A889T	False	False	False	False	False	Q13224_888_T
Q13224	GRIN2B	319	S	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S320T	False	False	False	False	False	Q13224_319_T
Q13224	GRIN2B	206	M	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M207V	False	False	False	False	False	Q13224_206_V
P23409	MYF6	97	A	S	0	ClinVar	criteria provided, single submitter	0.03305785123966942	Myogenic factor 6 (Myf-6) (Class C basic helix-loo	A98S	False	False	False	True	False	P23409_97_S
Q8NCM2	KCNH5	943	E	K	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	E944K	False	False	False	False	False	Q8NCM2_943_K
Q8NCM2	KCNH5	744	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	A745T	False	False	False	False	False	Q8NCM2_744_T
P28472	GABRB3	6	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	G7R	True	False	False	False	True	P28472_6_R
Q15413	RYR3	493	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	V494I	False	False	False	False	False	Q15413_493_I
Q15413	RYR3	730	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	I731V	False	False	False	False	False	Q15413_730_V
Q15413	RYR3	1640	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	R1641C	False	True	False	True	False	Q15413_1640_C
Q15413	RYR3	2269	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021971252566735114	Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodi	G2270E	False	False	False	False	False	Q15413_2269_E
P54098	POLG	48	Q	E	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Q49E	True	False	False	False	True	P54098_48_E
P09471	GNAO1	114	E	K	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	E115K	False	False	False	False	False	P09471_114_K
Q9BRB3	PIGQ	13	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.031578947368421054	Phosphatidylinositol N-acetylglucosaminyltransfera	T14A	True	False	False	True	True	Q9BRB3_13_A
P23434	GCSH	20	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023121387283236993	Glycine cleavage system H protein, mitochondrial (	S21L	True	False	False	False	True	P23434_20_L
P49327	FASN	1482	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018319394663480686	Fatty acid synthase (EC 2.3.1.85) (Type I fatty ac	V1483I	False	False	False	False	False	P49327_1482_I
Q9BTW9	TBCD	9	G	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	G10C	True	True	False	True	True	Q9BTW9_9_C
Q9BTW9	TBCD	616	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	M617T	False	False	False	False	False	Q9BTW9_616_T
Q9BTW9	TBCD	1096	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	E1097G	False	False	False	False	False	Q9BTW9_1096_G
O94989	ARHGEF15	276	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	L277P	False	False	False	False	False	O94989_276_P
O94989	ARHGEF15	830	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	S831P	False	False	False	False	False	O94989_830_P
P36776	LONP1	910	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V911I	False	False	False	False	False	P36776_910_I
P36776	LONP1	23	L	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	L24V	True	False	False	False	True	P36776_23_V
P36776	LONP1	22	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	M23V	True	False	False	False	True	P36776_22_V
Q14721	KCNB1	841	R	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R842H	False	False	False	False	False	Q14721_841_H
Q14721	KCNB1	840	V	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V841I	False	False	False	False	False	Q14721_840_I
Q14721	KCNB1	626	R	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R627L	False	False	False	False	False	Q14721_626_L
Q14721	KCNB1	1	P	R	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P2R	True	False	False	False	True	Q14721_1_R
P57059	SIK1	312	Q	H	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	Q313H	False	False	False	False	False	P57059_312_H
Q9NP73	ALG13	656	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	M657I	False	False	False	False	False	Q9NP73_656_I
Q13496	MTM1	148	P	R	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P149R	False	False	False	False	False	Q13496_148_R
Q13496	MTM1	179	N	S	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	N180S	False	False	False	False	False	Q13496_179_S
Q13496	MTM1	251	K	R	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	K252R	False	False	False	False	False	Q13496_251_R
P51608	MECP2	390	P	S	0	ClinVar	reviewed by expert panel	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P391S	False	False	False	False	False	P51608_390_S
O76039	CDKL5	362	N	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	N363S	False	False	False	False	False	O76039_362_S
Q96QS3	ARX	448	G	S	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	G449S	False	False	False	False	False	Q96QS3_448_S
P11532	DMD	3386	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	A3387V	False	False	False	False	False	P11532_3386_V
P11532	DMD	1060	K	R	0	ClinVar	criteria provided, single submitter	0.00976933514246947	Dystrophin	K1061R	False	False	False	False	False	P11532_1060_R
P11532	DMD	580	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	A581V	False	False	False	False	False	P11532_580_V
Q92736	RYR2	1863	L	P	0	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	L1864P	False	False	False	False	False	Q92736_1863_P
P15924	DSP	17	I	T	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I18T	True	False	False	False	True	P15924_17_T
P15924	DSP	1525	N	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	N1526S	False	False	False	False	False	P15924_1525_S
Q14896	MYBPC3	414	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	I415V	False	False	False	False	False	Q14896_414_V
Q02487	DSC2	603	H	N	0	ClinVar	criteria provided, single submitter	0.02774694783573807	Desmocollin-2 (Cadherin family member 2) (Desmocol	H604N	False	False	False	False	False	Q02487_603_N
Q14126	DSG2	972	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	T973A	False	False	False	False	False	Q14126_972_A
P38606	ATP6V1A	263	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	S264P	False	False	False	False	False	P38606_263_P
P60880	SNAP25	39	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	K40E	True	False	False	False	True	P60880_39_E
Q9UM47	NOTCH3	232	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C233Y	False	False	True	True	False	Q9UM47_232_Y
Q9BV79	MECR	303	D	Y	1	ClinVar	no assertion criteria provided	0.0160857908847185	Enoyl-[acyl-carrier-protein] reductase, mitochondr	D304Y	False	False	False	False	False	Q9BV79_303_Y
Q9BW92	TARS2	424	E	G	1	ClinVar	no assertion criteria provided	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	E425G	False	False	False	False	False	Q9BW92_424_G
Q9BW92	TARS2	559	D	H	1	ClinVar	criteria provided, single submitter	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	D560H	False	False	False	False	False	Q9BW92_559_H
P16389	KCNA2	301	F	L	1	ClinVar	no assertion criteria provided	0.01603206412825651	Potassium voltage-gated channel subfamily A member	F302L	False	False	False	False	False	P16389_301_L
P19525	EIF2AK2	150	Q	R	1	ClinVar	no assertion criteria provided	0.014519056261343012	Interferon-induced, double-stranded RNA-activated 	Q151R	False	False	False	False	False	P19525_150_R
Q9UQD0	SCN8A	1421	A	T	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1422T	False	False	False	False	False	Q9UQD0_1421_T
P35498	SCN1A	930	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R931S	False	False	False	False	False	P35498_930_S
P21817	RYR1	1971	N	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	N1972I	False	False	False	False	False	P21817_1971_I
P19429	TNNI3	178	E	G	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	E179G	False	False	False	False	False	P19429_178_G
Q8WZ42	TTN	27175	R	H	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	R27176H	False	False	False	False	False	Q8WZ42_27175_H
Q9BUB7	TMEM70	233	H	P	1	ClinVar	criteria provided, single submitter	0.011538461538461539	Transmembrane protein 70, mitochondrial	H234P	False	False	False	False	False	Q9BUB7_233_P
P61764	STXBP1	280	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L281P	False	False	False	False	False	P61764_280_P
P63267	ACTG2	147	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R148C	False	True	False	True	False	P63267_147_C
Q13224	GRIN2B	656	E	D	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	E657D	False	False	False	False	False	Q13224_656_D
P35498	SCN1A	262	L	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L263V	False	False	False	False	False	P35498_262_V
P11532	DMD	1296	G	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00976933514246947	Dystrophin	G1297C	False	True	False	True	False	P11532_1296_C
P35498	SCN1A	948	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C949Y	False	False	True	True	False	P35498_948_Y
P02462	COL4A1	567	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G568C	False	True	False	True	False	P02462_567_C
Q15878	CACNA1E	918	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R919Q	False	False	False	False	False	Q15878_918_Q
Q92521	PIGB	298	W	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02527075812274368	GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (	W299L	False	False	False	False	False	Q92521_298_L
P08473	MME	166	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016	Neprilysin (EC 3.4.24.11) (Atriopeptidase) (Common	W167R	False	False	False	False	False	P08473_166_R
P21817	RYR1	4812	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	H4813Y	False	False	False	False	False	P21817_4812_Y
Q92743	HTRA1	273	R	G	1	ClinVar	no assertion criteria provided	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	R274G	False	False	False	True	False	Q92743_273_G
O76039	CDKL5	86	L	V	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L87V	False	False	False	False	False	O76039_86_V
Q92913	FGF13	4	I	S	1	ClinVar	criteria provided, single submitter	0.0163265306122449	Fibroblast growth factor 13 (FGF-13) (Fibroblast g	I5S	True	False	False	False	True	Q92913_4_S
O60313	OPA1	0	M	I	1	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	M1I	True	False	False	False	True	O60313_0_I
Q13144	EIF2B5	304	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	M305L	False	False	False	False	False	Q13144_304_L
Q92743	HTRA1	282	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	G283R	False	False	False	True	False	Q92743_282_R
Q9Y4W6	AFG3L2	670	G	W	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G671W	False	False	False	False	False	Q9Y4W6_670_W
Q96JX3	SERAC1	644	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	R645C	False	True	False	True	False	Q96JX3_644_C
O00555	CACNA1A	100	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E101K	False	False	False	False	False	O00555_100_K
Q9P0K1	ADAM22	80	P	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05077262693156733	Disintegrin and metalloproteinase domain-containin	P81R	False	False	False	True	False	Q9P0K1_80_R
Q53S33	BOLA3	58	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009345794392523364	BolA-like protein 3	C59Y	False	False	True	True	False	Q53S33_58_Y
O75899	GABBR2	909	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	V910M	False	False	False	False	False	O75899_909_M
Q96I59	NARS2	262	I	T	1	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	I263T	False	False	False	False	False	Q96I59_262_T
O00142	TK2	207	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	Y208C	False	True	False	True	False	O00142_207_C
Q14721	KCNB1	735	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R736Q	False	False	False	False	False	Q14721_735_Q
O95140	MFN2	127	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H128Y	False	False	False	False	False	O95140_127_Y
P15104	GLUL	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029490616621983913	Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate-	M1V	True	False	False	False	True	P15104_0_V
Q9Y2Z4	YARS2	184	F	L	1	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	F185L	False	False	False	False	False	Q9Y2Z4_184_L
O00429	DNM1L	58	T	N	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	T59N	False	False	False	False	False	O00429_58_N
Q14721	KCNB1	791	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S792L	False	False	False	False	False	Q14721_791_L
Q5ST30	VARS2	696	I	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	I697T	False	False	False	False	False	Q5ST30_696_T
Q5JTZ9	AARS2	983	Q	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	Q984H	False	False	False	False	False	Q5JTZ9_983_H
Q14721	KCNB1	378	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G379E	False	False	False	False	False	Q14721_378_E
P35523	CLCN1	464	V	F	1	ClinVar	criteria provided, single submitter	0.018218623481781375	Chloride channel protein 1 (ClC-1) (Chloride chann	V465F	False	False	False	False	False	P35523_464_F
P30084	ECHS1	277	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A278T	False	False	False	False	False	P30084_277_T
P35498	SCN1A	462	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T463M	False	False	False	False	False	P35498_462_M
Q9Y234	LIPT1	0	M	T	1	ClinVar	criteria provided, single submitter	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	M1T	True	False	False	False	True	Q9Y234_0_T
Q13144	EIF2B5	426	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	P427L	False	False	False	False	False	Q13144_426_L
Q5JTZ9	AARS2	624	R	H	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R625H	False	False	False	False	False	Q5JTZ9_624_H
O00555	CACNA1A	2420	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P2421L	False	False	False	False	False	O00555_2420_L
P51608	MECP2	398	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P399T	False	False	False	False	False	P51608_398_T
Q99715	COL12A1	372	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0068560235063663075	Collagen alpha-1(XII) chain	A373S	False	False	False	False	False	Q99715_372_S
P21817	RYR1	543	D	Y	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	D544Y	False	False	False	False	False	P21817_543_Y
Q96RR1	TWNK	302	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R303W	False	False	False	False	False	Q96RR1_302_W
P61764	STXBP1	551	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C552Y	False	False	True	True	False	P61764_551_Y
O14647	CHD2	1369	D	G	1	ClinVar	no assertion criteria provided	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	D1370G	False	False	False	False	False	O14647_1369_G
Q8WWV3	RTN4IP1	0	M	T	1	ClinVar	criteria provided, single submitter	0.017676767676767676	NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 	M1T	True	False	False	False	True	Q8WWV3_0_T
P21817	RYR1	2361	E	K	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	E2362K	False	False	False	False	False	P21817_2361_K
P61764	STXBP1	130	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	T131M	False	False	False	False	False	P61764_130_M
Q14721	KCNB1	551	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A552T	False	False	False	False	False	Q14721_551_T
Q96QS3	ARX	246	D	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	D247H	False	False	False	False	False	Q96QS3_246_H
Q8WYQ3	CHCHD10	94	Q	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	Q95P	False	False	False	False	False	Q8WYQ3_94_P
P50993	ATP1A2	907	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	R908Q	False	False	False	False	False	P50993_907_Q
P55084	HADHB	429	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	F430S	False	False	False	False	False	P55084_429_S
Q99250	SCN2A	1735	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D1736E	False	False	False	False	False	Q99250_1735_E
P0DJ07	PET100	24	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Protein PET100 homolog, mitochondrial	N25S	True	False	False	False	True	P0DJ07_24_S
Q9UI09	NDUFA12	28	R	K	1	ClinVar	no assertion criteria provided	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R29K	True	False	False	False	True	Q9UI09_28_K
P50995	ANXA11	190	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011881188118811881	Annexin A11 (56 kDa autoantigen) (Annexin XI) (Ann	R191Q	False	False	False	False	False	P50995_190_Q
Q15878	CACNA1E	2178	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A2179V	False	False	False	False	False	Q15878_2178_V
Q8IUG5	MYO18B	546	W	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	W547C	False	True	False	True	False	Q8IUG5_546_C
Q15878	CACNA1E	830	R	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R831T	False	False	False	False	False	Q15878_830_T
Q15878	CACNA1E	858	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	D859E	False	False	False	False	False	Q15878_858_E
Q9Y5U8	MPC1	69	A	T	1	ClinVar	criteria provided, single submitter	0.027522935779816515	Mitochondrial pyruvate carrier 1 (Brain protein 44	A70T	False	False	False	False	False	Q9Y5U8_69_T
Q9Y5U8	MPC1	96	R	Q	1	ClinVar	criteria provided, single submitter	0.027522935779816515	Mitochondrial pyruvate carrier 1 (Brain protein 44	R97Q	False	False	False	False	False	Q9Y5U8_96_Q
Q15772	SPEG	2686	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01499846954392409	Striated muscle preferentially expressed protein k	P2687T	False	False	False	False	False	Q15772_2686_T
Q8IUG5	MYO18B	2346	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	Q2347R	False	False	False	False	False	Q8IUG5_2346_R
Q15878	CACNA1E	1060	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	D1061E	False	False	False	False	False	Q15878_1060_E
P56556	NDUFA6	8	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A9V	True	False	False	False	True	P56556_8_V
Q15878	CACNA1E	2277	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	M2278V	False	False	False	False	False	Q15878_2277_V
O75899	GABBR2	928	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	H929R	False	False	False	False	False	O75899_928_R
Q8IUG5	MYO18B	43	G	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	G44E	True	False	False	False	True	Q8IUG5_43_E
Q15878	CACNA1E	2171	Y	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	Y2172C	False	True	False	True	False	Q15878_2171_C
Q15878	CACNA1E	2240	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A2241T	False	False	False	False	False	Q15878_2240_T
O75899	GABBR2	772	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T773M	False	False	False	False	False	O75899_772_M
Q8WYQ3	CHCHD10	89	T	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	T90P	False	False	False	False	False	Q8WYQ3_89_P
Q8TDJ6	DMXL2	496	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020421607378129116	DmX-like protein 2 (Rabconnectin-3)	T497M	False	False	False	False	False	Q8TDJ6_496_M
Q9GZZ9	UBA5	66	D	Y	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	D67Y	False	False	False	False	False	Q9GZZ9_66_Y
Q86SX6	GLRX5	65	Q	P	1	ClinVar	no assertion criteria provided	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	Q66P	False	False	False	False	False	Q86SX6_65_P
Q8NCW5	NAXE	87	G	W	1	ClinVar	no assertion criteria provided	0.020833333333333332	NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipopr	G88W	False	False	False	False	False	Q8NCW5_87_W
Q15031	LARS2	711	P	S	1	ClinVar	no assertion criteria provided	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	P712S	False	False	False	False	False	Q15031_711_S
P08243	ASNS	403	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R404H	False	False	False	False	False	P08243_403_H
P08559	PDHA1	242	Y	C	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y243C	False	True	False	True	False	P08559_242_C
Q8WVT3	TRAPPC12	300	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010884353741496598	Trafficking protein particle complex subunit 12 (T	S301G	False	False	False	False	False	Q8WVT3_300_G
Q9H845	ACAD9	389	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A390T	False	False	False	False	False	Q9H845_389_T
Q15878	CACNA1E	997	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	G998S	False	False	False	False	False	Q15878_997_S
P30084	ECHS1	10	V	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	V11A	True	False	False	False	True	P30084_10_A
O14529	CUX2	1471	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006056527590847914	Homeobox protein cut-like 2 (Homeobox protein cux-	V1472L	False	False	False	False	False	O14529_1471_L
P08574	CYC1	75	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018461538461538463	Cytochrome c1, heme protein, mitochondrial (EC 7.1	M76V	False	False	False	False	False	P08574_75_V
Q6IQ26	DENND5A	223	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02097902097902098	DENN domain-containing protein 5A (Rab6-interactin	E224Q	False	False	False	False	False	Q6IQ26_223_Q
Q8TDJ6	DMXL2	1287	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020421607378129116	DmX-like protein 2 (Rabconnectin-3)	S1288P	False	False	False	False	False	Q8TDJ6_1287_P
Q99250	SCN2A	862	S	Y	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S863Y	False	False	False	False	False	Q99250_862_Y
O00555	CACNA1A	2442	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A2443V	False	False	False	False	False	O00555_2442_V
Q9UM47	NOTCH3	60	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R61W	False	False	False	True	False	Q9UM47_60_W
Q9UM47	NOTCH3	193	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C194Y	False	False	True	True	False	Q9UM47_193_Y
Q8WYQ3	CHCHD10	91	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	A92P	False	False	False	False	False	Q8WYQ3_91_P
Q8IUG5	MYO18B	660	W	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	W661R	False	False	False	False	False	Q8IUG5_660_R
Q9BV79	MECR	95	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0160857908847185	Enoyl-[acyl-carrier-protein] reductase, mitochondr	F96L	False	False	False	False	False	Q9BV79_95_L
P36776	LONP1	828	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A829T	False	False	False	False	False	P36776_828_T
Q9Y375	NDUFAF1	308	H	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	H309D	False	False	False	False	False	Q9Y375_308_D
Q8IUG5	MYO18B	176	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	P177L	False	False	False	False	False	Q8IUG5_176_L
Q9NYL2	MAP3K20	530	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01375	Mitogen-activated protein kinase kinase kinase 20 	S531L	False	False	False	False	False	Q9NYL2_530_L
Q99807	COQ7	16	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	P17L	True	False	False	False	True	Q99807_16_L
O00142	TK2	29	G	E	0	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	G30E	True	False	False	False	True	O00142_29_E
Q8IUG5	MYO18B	1118	H	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	H1119Q	False	False	False	False	False	Q8IUG5_1118_Q
Q15878	CACNA1E	893	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	P894L	False	False	False	False	False	Q15878_893_L
Q8IWK6	ADGRA3	527	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02725208175624527	Adhesion G protein-coupled receptor A3 (G-protein 	G528S	False	False	False	False	False	Q8IWK6_527_S
O76039	CDKL5	537	T	M	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T538M	False	False	False	False	False	O76039_537_M
P00505	GOT2	345	V	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01627906976744186	Aspartate aminotransferase, mitochondrial (mAspAT)	V346G	False	False	False	False	False	P00505_345_G
Q8N442	GUF1	57	L	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01195814648729447	Translation factor GUF1, mitochondrial (EC 3.6.5.-	L58P	False	False	False	False	False	Q8N442_57_P
Q13224	GRIN2B	732	A	P	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A733P	False	False	False	False	False	Q13224_732_P
Q9UMS0	NFU1	188	G	R	1	ClinVar	criteria provided, single submitter	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	G189R	False	False	False	False	False	Q9UMS0_188_R
Q9UMS0	NFU1	181	R	L	1	ClinVar	criteria provided, single submitter	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	R182L	False	False	False	False	False	Q9UMS0_181_L
P08559	PDHA1	226	Y	H	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y227H	False	False	False	True	False	P08559_226_H
Q9UQD0	SCN8A	239	I	F	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I240F	False	False	False	False	False	Q9UQD0_239_F
P60880	SNAP25	42	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	G43R	True	False	False	False	True	P60880_42_R
P60880	SNAP25	49	L	S	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	L50S	True	False	False	False	True	P60880_49_S
P60880	SNAP25	56	L	R	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	L57R	False	False	False	False	False	P60880_56_R
P60880	SNAP25	70	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	M71T	False	False	False	False	False	P60880_70_T
P60880	SNAP25	165	D	Y	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	D166Y	False	False	False	False	False	P60880_165_Y
P60880	SNAP25	165	D	G	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	D166G	False	False	False	False	False	P60880_165_G
P60880	SNAP25	173	Q	P	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	Q174P	False	False	False	False	False	P60880_173_P
P60880	SNAP25	191	I	T	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	I192T	False	False	False	False	False	P60880_191_T
P60880	SNAP25	198	A	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	A199G	False	False	False	False	False	P60880_198_G
O43526	KCNQ2	268	W	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W269S	False	False	False	False	False	O43526_268_S
Q9UQD0	SCN8A	1463	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1464T	False	False	False	False	False	Q9UQD0_1463_T
Q9BUK6	MSTO1	475	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028070175438596492	Protein misato homolog 1	P476S	False	False	False	False	False	Q9BUK6_475_S
Q96BR5	COA7	218	K	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.05627705627705628	Cytochrome c oxidase assembly factor 7 (Beta-lacta	K219R	False	False	False	True	False	Q96BR5_218_R
Q15031	LARS2	120	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	Q121R	False	False	False	False	False	Q15031_120_R
Q96CU9	FOXRED1	324	Y	C	0	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	Y325C	False	True	False	True	False	Q96CU9_324_C
Q15878	CACNA1E	1954	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A1955T	False	False	False	False	False	Q15878_1954_T
O14529	CUX2	944	T	M	1	ClinVar	no assertion criteria provided	0.006056527590847914	Homeobox protein cut-like 2 (Homeobox protein cux-	T945M	False	False	False	False	False	O14529_944_M
P61764	STXBP1	286	L	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L287P	False	False	False	False	False	P61764_286_P
P07333	CSF1R	781	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	R782C	False	True	False	True	False	P07333_781_C
Q9UM47	NOTCH3	182	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C183R	False	False	True	True	False	Q9UM47_182_R
P50995	ANXA11	229	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011881188118811881	Annexin A11 (56 kDa autoantigen) (Annexin XI) (Ann	R230C	False	True	False	True	False	P50995_229_C
P0CG40	SP9	377	E	A	1	ClinVar	no assertion criteria provided	0.024793388429752067	Transcription factor Sp9	E378A	False	False	False	False	False	P0CG40_377_A
P0CG40	SP9	377	E	G	1	ClinVar	criteria provided, single submitter	0.024793388429752067	Transcription factor Sp9	E378G	False	False	False	False	False	P0CG40_377_G
Q9UM47	NOTCH3	497	G	C	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G498C	False	True	False	True	False	Q9UM47_497_C
P61764	STXBP1	40	L	R	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L41R	True	False	False	False	True	P61764_40_R
P61764	STXBP1	485	M	R	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M486R	False	False	False	False	False	P61764_485_R
P61764	STXBP1	244	H	N	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	H245N	False	False	False	False	False	P61764_244_N
Q13224	GRIN2B	654	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I655V	False	False	False	False	False	Q13224_654_V
Q9Y5U8	MPC1	36	P	S	1	ClinVar	criteria provided, single submitter	0.027522935779816515	Mitochondrial pyruvate carrier 1 (Brain protein 44	P37S	True	False	False	False	True	Q9Y5U8_36_S
P49588	AARS1	151	C	F	1	ClinVar	no assertion criteria provided	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	C152F	False	False	True	True	False	P49588_151_F
O95831	AIFM1	258	A	G	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A259G	False	False	False	False	False	O95831_258_G
O00429	DNM1L	400	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G401S	False	False	False	False	False	O00429_400_S
O00429	DNM1L	362	G	D	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G363D	False	False	False	False	False	O00429_362_D
O00429	DNM1L	709	R	G	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	R710G	False	False	False	False	False	O00429_709_G
O95140	MFN2	248	S	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S249C	False	True	False	True	False	O95140_248_C
P12883	MYH7	171	Q	E	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q172E	False	False	False	False	False	P12883_171_E
P12110	COL6A2	622	S	F	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	S623F	False	False	False	False	False	P12110_622_F
O14647	CHD2	729	K	R	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K730R	False	False	False	False	False	O14647_729_R
Q99250	SCN2A	995	D	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D996N	False	False	False	False	False	Q99250_995_N
P05165	PCCA	469	L	R	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	L470R	False	False	False	False	False	P05165_469_R
O75112	LDB3	439	S	P	0	ClinVar	no assertion criteria provided	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S440P	False	False	False	False	False	O75112_439_P
Q6PI48	DARS2	150	A	D	1	ClinVar	no assertion criteria provided	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	A151D	False	False	False	False	False	Q6PI48_150_D
O95202	LETM1	292	I	N	1	ClinVar	no assertion criteria provided	0.016238159675236806	Mitochondrial proton/calcium exchanger protein (El	I293N	False	False	False	False	False	O95202_292_N
O95202	LETM1	293	R	Q	1	ClinVar	no assertion criteria provided	0.016238159675236806	Mitochondrial proton/calcium exchanger protein (El	R294Q	False	False	False	False	False	O95202_293_Q
P35498	SCN1A	1672	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1673T	False	False	False	False	False	P35498_1672_T
Q15878	CACNA1E	1996	R	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R1997M	False	False	False	False	False	Q15878_1996_M
O00330	PDHX	421	M	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.007984031936127744	Pyruvate dehydrogenase protein X component, mitoch	M422I	False	False	False	False	False	O00330_421_I
P35498	SCN1A	631	L	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L632Q	False	False	False	False	False	P35498_631_Q
Q15878	CACNA1E	2208	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	E2209K	False	False	False	False	False	Q15878_2208_K
Q9UKX2	MYH2	1876	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	L1877P	False	False	False	False	False	Q9UKX2_1876_P
Q9BRB3	PIGQ	448	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031578947368421054	Phosphatidylinositol N-acetylglucosaminyltransfera	G449R	False	False	False	True	False	Q9BRB3_448_R
Q15878	CACNA1E	925	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	V926I	False	False	False	False	False	Q15878_925_I
P68133	ACTA1	347	L	Q	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	L348Q	False	False	False	False	False	P68133_347_Q
O00555	CACNA1A	675	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G676R	False	False	False	False	False	O00555_675_R
Q15878	CACNA1E	1076	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	V1077M	False	False	False	False	False	Q15878_1076_M
Q15878	CACNA1E	2115	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2116H	False	False	False	False	False	Q15878_2115_H
Q00577	PURA	89	E	K	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	E90K	False	False	False	False	False	Q00577_89_K
O00555	CACNA1A	1659	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1660C	False	True	False	True	False	O00555_1659_C
Q99250	SCN2A	1478	Q	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1479H	False	False	False	False	False	Q99250_1478_H
P10589	NR2F1	97	Y	H	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	Y98H	False	False	False	True	False	P10589_97_H
Q9UI09	NDUFA12	0	M	V	1	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1V	True	False	False	False	True	Q9UI09_0_V
Q6PI48	DARS2	261	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	A262V	False	False	False	False	False	Q6PI48_261_V
Q00577	PURA	159	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	K160E	False	False	False	False	False	Q00577_159_E
Q15878	CACNA1E	823	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	P824S	False	False	False	False	False	Q15878_823_S
P11498	PC	457	N	D	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	N458D	False	False	False	False	False	P11498_457_D
P11498	PC	868	G	A	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	G869A	False	False	False	False	False	P11498_868_A
P11498	PC	811	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A812D	False	False	False	False	False	P11498_811_D
O95677	EYA4	193	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012519561815336464	Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absen	D194N	False	False	False	False	False	O95677_193_N
Q99250	SCN2A	239	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A240S	False	False	False	False	False	Q99250_239_S
Q9BW92	TARS2	240	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	Q241R	False	False	False	False	False	Q9BW92_240_R
P56381	ATP5F1E	28	T	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0196078431372549	ATP synthase F(1) complex subunit epsilon, mitocho	T29K	True	False	False	False	True	P56381_28_K
Q13418	ILK	355	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01991150442477876	Scaffold protein ILK (ILK-1) (ILK-2) (Inactive int	V356I	False	False	False	False	False	Q13418_355_I
P54098	POLG	1206	E	K	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	E1207K	False	False	False	False	False	P54098_1206_K
Q9UQD0	SCN8A	1331	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1332P	False	False	False	False	False	Q9UQD0_1331_P
Q9NY46	SCN3A	1873	M	R	1	ClinVar	criteria provided, single submitter	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	M1874R	False	False	False	False	False	Q9NY46_1873_R
Q9UQD0	SCN8A	1649	A	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1650D	False	False	False	False	False	Q9UQD0_1649_D
O43526	KCNQ2	235	W	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W236R	False	False	False	False	False	O43526_235_R
Q15878	CACNA1E	347	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	G348R	False	False	False	False	False	Q15878_347_R
O76039	CDKL5	199	I	N	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	I200N	False	False	False	False	False	O76039_199_N
P28472	GABRB3	259	L	V	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L260V	False	False	False	False	False	P28472_259_V
Q8NCW5	NAXE	203	L	P	1	ClinVar	criteria provided, single submitter	0.020833333333333332	NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipopr	L204P	False	False	False	False	False	Q8NCW5_203_P
P08559	PDHA1	118	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R119W	False	False	False	True	False	P08559_118_W
O00555	CACNA1A	1516	G	R	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G1517R	False	False	False	False	False	O00555_1516_R
P10589	NR2F1	165	P	L	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	P166L	False	False	False	True	False	P10589_165_L
P13637	ATP1A3	291	L	R	1	ClinVar	no assertion criteria provided	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	L292R	False	False	False	False	False	P13637_291_R
P13637	ATP1A3	315	G	V	1	ClinVar	no assertion criteria provided	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G316V	False	False	False	False	False	P13637_315_V
P13637	ATP1A3	360	S	P	1	ClinVar	no assertion criteria provided	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	S361P	False	False	False	False	False	P13637_360_P
Q8IUG5	MYO18B	2	I	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014803272302298403	Unconventional myosin-XVIIIb	I3M	True	False	False	False	True	Q8IUG5_2_M
P23378	GLDC	314	G	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G315S	False	False	False	False	False	P23378_314_S
Q5U5X0	LYRM7	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009615384615384616	Complex III assembly factor LYRM7 (LYR motif-conta	M1T	True	False	False	False	True	Q5U5X0_0_T
Q5JTZ9	AARS2	59	P	H	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	P60H	False	False	False	False	False	Q5JTZ9_59_H
Q5JTZ9	AARS2	150	M	T	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	M151T	False	False	False	False	False	Q5JTZ9_150_T
P48728	AMT	0	M	I	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	M1I	True	False	False	False	True	P48728_0_I
P17661	DES	400	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	E401D	False	False	False	False	False	P17661_400_D
Q16854	DGUOK	0	M	I	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	M1I	True	False	False	False	True	Q16854_0_I
Q16854	DGUOK	117	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	R118C	False	True	False	True	False	Q16854_117_C
P28472	GABRB3	304	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	A305V	False	False	False	False	False	P28472_304_V
Q9Y223	GNE	377	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	D378H	False	False	False	False	False	Q9Y223_377_H
P05165	PCCA	120	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	Y121C	False	True	False	True	False	P05165_120_C
P08559	PDHA1	228	M	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M229L	False	False	False	True	False	P08559_228_L
Q99250	SCN2A	1769	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1770L	False	False	False	False	False	Q99250_1769_L
P19971	TYMP	269	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L270P	False	False	False	False	False	P19971_269_P
O15399	GRIN2D	572	S	F	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	S573F	False	False	False	False	False	O15399_572_F
O15399	GRIN2D	677	A	D	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	A678D	False	False	False	False	False	O15399_677_D
Q13813	SPTAN1	177	G	D	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	G178D	False	False	False	False	False	Q13813_177_D
Q13813	SPTAN1	305	A	V	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A306V	False	False	False	False	False	Q13813_305_V
O95140	MFN2	231	T	S	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T232S	False	False	False	False	False	O95140_231_S
Q92743	HTRA1	165	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	R166C	False	True	False	True	False	Q92743_165_C
P08559	PDHA1	289	H	Y	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H290Y	False	False	False	True	False	P08559_289_Y
O00429	DNM1L	343	Y	H	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	Y344H	False	False	False	False	False	O00429_343_H
O43526	KCNQ2	177	A	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A178V	False	False	False	False	False	O43526_177_V
O43526	KCNQ2	57	R	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R58S	False	False	False	False	False	O43526_57_S
O43526	KCNQ2	348	T	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T349P	False	False	False	False	False	O43526_348_P
O43526	KCNQ2	205	L	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L206R	False	False	False	False	False	O43526_205_R
O43526	KCNQ2	222	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S223F	False	False	False	False	False	O43526_222_F
O95831	AIFM1	253	E	K	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	E254K	False	False	False	False	False	O95831_253_K
Q15878	CACNA1E	922	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	H923Y	False	False	False	False	False	Q15878_922_Y
Q9Y4W6	AFG3L2	687	P	T	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	P688T	False	False	False	False	False	Q9Y4W6_687_T
Q99259	GAD1	563	N	S	1	ClinVar	no assertion criteria provided	0.021885521885521887	Glutamate decarboxylase 1 (EC 4.1.1.15) (67 kDa gl	N564S	False	False	False	False	False	Q99259_563_S
O95299	NDUFA10	98	G	E	1	ClinVar	criteria provided, single submitter	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	G99E	False	False	False	False	False	O95299_98_E
P12109	COL6A1	274	G	E	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G275E	False	False	False	False	False	P12109_274_E
P30084	ECHS1	187	A	V	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A188V	False	False	False	False	False	P30084_187_V
Q15878	CACNA1E	1752	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R1753Q	False	False	False	False	False	Q15878_1752_Q
Q15878	CACNA1E	2002	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2003H	False	False	False	False	False	Q15878_2002_H
Q15526	SURF1	191	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	R192Q	False	False	False	False	False	Q15526_191_Q
O75112	LDB3	435	A	P	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	A436P	False	False	False	False	False	O75112_435_P
P12883	MYH7	405	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V406M	False	False	False	False	False	P12883_405_M
P12883	MYH7	903	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R904L	False	False	False	False	False	P12883_903_L
Q9NY46	SCN3A	854	L	P	1	ClinVar	criteria provided, single submitter	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	L855P	False	False	False	False	False	Q9NY46_854_P
Q9NY46	SCN3A	884	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	L885F	False	False	False	False	False	Q9NY46_884_F
Q9NY46	SCN3A	1485	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	T1486I	False	False	False	False	False	Q9NY46_1485_I
Q9NY46	SCN3A	1645	F	S	1	ClinVar	criteria provided, single submitter	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	F1646S	False	False	False	False	False	Q9NY46_1645_S
Q9NY46	SCN3A	1668	Y	C	1	ClinVar	criteria provided, single submitter	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	Y1669C	False	True	False	True	False	Q9NY46_1668_C
Q9NY46	SCN3A	1764	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0185	Sodium channel protein type 3 subunit alpha (Sodiu	M1765I	False	False	False	False	False	Q9NY46_1764_I
Q9H598	SLC32A1	321	F	C	1	ClinVar	criteria provided, single submitter	0.03238095238095238	Vesicular inhibitory amino acid transporter (GABA 	F322C	False	True	False	True	False	Q9H598_321_C
P05166	PCCB	315	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	M316R	False	False	False	False	False	P05166_315_R
Q15049	MLC1	83	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	R84H	False	False	False	False	False	Q15049_83_H
Q15049	MLC1	122	T	I	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	T123I	False	False	False	False	False	Q15049_122_I
Q16740	CLPP	99	I	T	1	ClinVar	criteria provided, single submitter	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	I100T	False	False	False	False	False	Q16740_99_T
Q9P2R7	SUCLA2	271	D	H	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	D272H	False	False	False	False	False	Q9P2R7_271_H
P49821	NDUFV1	126	D	G	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	D127G	False	False	False	False	False	P49821_126_G
Q92743	HTRA1	301	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	R302Q	False	False	False	True	False	Q92743_301_Q
O43526	KCNQ2	105	C	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	C106G	False	False	True	True	False	O43526_105_G
P08243	ASNS	137	D	A	1	ClinVar	criteria provided, single submitter	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	D138A	False	False	False	False	False	P08243_137_A
P08243	ASNS	74	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	N75S	False	False	False	False	False	P08243_74_S
P12883	MYH7	1559	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1560P	False	False	False	False	False	P12883_1559_P
Q5VTB9	RNF220	364	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03180212014134275	E3 ubiquitin-protein ligase RNF220 (EC 2.3.2.27) (	R365Q	False	False	False	True	False	Q5VTB9_364_Q
Q5VTB9	RNF220	362	R	Q	1	ClinVar	no assertion criteria provided	0.03180212014134275	E3 ubiquitin-protein ligase RNF220 (EC 2.3.2.27) (	R363Q	False	False	False	True	False	Q5VTB9_362_Q
Q15772	SPEG	2789	R	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01499846954392409	Striated muscle preferentially expressed protein k	R2790G	False	False	False	False	False	Q15772_2789_G
Q9UM47	NOTCH3	492	C	S	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C493S	False	False	True	True	False	Q9UM47_492_S
P12883	MYH7	836	K	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K837R	False	False	False	False	False	P12883_836_R
Q9UM47	NOTCH3	541	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C542R	False	False	True	True	False	Q9UM47_541_R
P47870	GABRB2	208	Q	H	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	Q209H	False	False	False	False	False	P47870_208_H
P12883	MYH7	475	L	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L476F	False	False	False	False	False	P12883_475_F
P12883	MYH7	614	K	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K615T	False	False	False	False	False	P12883_614_T
P12883	MYH7	510	I	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I511L	False	False	False	False	False	P12883_510_L
P13637	ATP1A3	126	A	V	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	A127V	False	False	False	False	False	P13637_126_V
P13637	ATP1A3	804	D	E	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	D805E	False	False	False	False	False	P13637_804_E
Q00839	HNRNPU	372	G	D	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G373D	False	False	False	False	False	Q00839_372_D
O15399	GRIN2D	676	L	V	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	L677V	False	False	False	False	False	O15399_676_V
P68133	ACTA1	139	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A140D	False	False	False	False	False	P68133_139_D
P13637	ATP1A3	850	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	Q851R	False	False	False	False	False	P13637_850_R
Q07912	TNK2	351	R	W	1	ClinVar	no assertion criteria provided	0.017341040462427744	Activated CDC42 kinase 1 (ACK-1) (EC 2.7.10.2) (EC	R352W	False	False	False	False	False	Q07912_351_W
Q9NZC7	WWOX	354	G	R	1	ClinVar	no assertion criteria provided	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	G355R	False	False	False	False	False	Q9NZC7_354_R
P22001	KCNA3	454	I	V	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	I455V	False	False	False	False	False	P22001_454_V
O43426	SYNJ1	333	D	G	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	D334G	False	False	False	False	False	O43426_333_G
P49821	NDUFV1	203	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	Y204C	False	True	False	True	False	P49821_203_C
Q9NQL2	RRAGD	118	P	R	1	ClinVar	criteria provided, single submitter	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	P119R	False	False	False	False	False	Q9NQL2_118_R
Q00577	PURA	230	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	F231C	False	True	False	True	False	Q00577_230_C
Q8TF40	FNIP1	1117	S	N	1	ClinVar	no assertion criteria provided	0.030017152658662092	Folliculin-interacting protein 1	S1118N	False	False	False	True	False	Q8TF40_1117_N
O14983	ATP2A1	66	L	R	1	ClinVar	no assertion criteria provided	0.023976023976023976	Sarcoplasmic/endoplasmic reticulum calcium ATPase 	L67R	False	False	False	False	False	O14983_66_R
O14983	ATP2A1	234	I	N	1	ClinVar	no assertion criteria provided	0.023976023976023976	Sarcoplasmic/endoplasmic reticulum calcium ATPase 	I235N	False	False	False	False	False	O14983_234_N
Q5JTZ9	AARS2	327	I	M	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	I328M	False	False	False	False	False	Q5JTZ9_327_M
Q9UQ90	SPG7	358	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	A359P	False	False	False	False	False	Q9UQ90_358_P
Q9UQD0	SCN8A	253	V	G	1	ClinVar	no assertion criteria provided	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V254G	False	False	False	False	False	Q9UQD0_253_G
P61981	YWHAG	56	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	R57H	False	False	False	False	False	P61981_56_H
P07333	CSF1R	822	A	T	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A823T	False	False	False	False	False	P07333_822_T
P10589	NR2F1	110	K	E	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	K111E	False	False	False	True	False	P10589_110_E
O95831	AIFM1	552	A	V	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A553V	False	False	False	False	False	O95831_552_V
P47870	GABRB2	251	P	S	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	P252S	False	False	False	False	False	P47870_251_S
Q5RI15	COX20	73	W	C	1	ClinVar	no assertion criteria provided	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	W74C	False	True	False	True	False	Q5RI15_73_C
Q5RI15	COX20	32	S	L	1	ClinVar	no assertion criteria provided	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	S33L	True	False	False	True	True	Q5RI15_32_L
Q9UM47	NOTCH3	586	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R587C	False	True	False	True	False	Q9UM47_586_C
Q9NZC7	WWOX	309	R	P	1	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	R310P	False	False	False	False	False	Q9NZC7_309_P
Q96H96	COQ2	320	L	Q	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	L321Q	False	False	False	False	False	Q96H96_320_Q
P63267	ACTG2	196	R	T	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R197T	False	False	False	False	False	P63267_196_T
Q86Y39	NDUFA11	21	A	V	1	ClinVar	no assertion criteria provided	0.028368794326241134	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A22V	True	False	False	False	True	Q86Y39_21_V
Q8NBH2	KY	415	I	N	1	ClinVar	no assertion criteria provided	0.01664145234493192	Kyphoscoliosis peptidase (EC 3.4.-.-)	I416N	False	False	False	False	False	Q8NBH2_415_N
P21817	RYR1	4883	Y	H	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y4884H	False	False	False	False	False	P21817_4883_H
P21817	RYR1	4863	Y	S	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y4864S	False	False	False	False	False	P21817_4863_S
P21817	RYR1	4936	I	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	I4937M	False	False	False	False	False	P21817_4936_M
P21817	RYR1	930	L	P	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L931P	False	False	False	False	False	P21817_930_P
P21817	RYR1	3576	R	G	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R3577G	False	False	False	False	False	P21817_3576_G
O75746	SLC25A12	136	F	S	1	ClinVar	no assertion criteria provided	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	F137S	False	False	False	False	False	O75746_136_S
Q9Y276	BCS1L	237	S	G	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	S238G	False	False	False	False	False	Q9Y276_237_G
Q9UGM6	WARS2	277	V	G	1	ClinVar	criteria provided, single submitter	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	V278G	False	False	False	False	False	Q9UGM6_277_G
Q9BW92	TARS2	156	T	R	1	ClinVar	criteria provided, single submitter	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	T157R	False	False	False	False	False	Q9BW92_156_R
Q9BW92	TARS2	714	E	K	1	ClinVar	criteria provided, single submitter	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	E715K	False	False	False	False	False	Q9BW92_714_K
P61764	STXBP1	347	L	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L348P	False	False	False	False	False	P61764_347_P
Q99250	SCN2A	420	L	V	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L421V	False	False	False	False	False	Q99250_420_V
Q99250	SCN2A	1484	G	D	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1485D	False	False	False	False	False	Q99250_1484_D
Q99250	SCN2A	1499	A	T	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1500T	False	False	False	False	False	Q99250_1499_T
Q99250	SCN2A	1644	G	R	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1645R	False	False	False	False	False	Q99250_1644_R
Q99250	SCN2A	1466	L	V	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1467V	False	False	False	False	False	Q99250_1466_V
Q99250	SCN2A	1338	N	D	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N1339D	False	False	False	False	False	Q99250_1338_D
Q99250	SCN2A	1852	H	R	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	H1853R	False	False	False	False	False	Q99250_1852_R
Q99250	SCN2A	957	M	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M958V	False	False	False	False	False	Q99250_957_V
Q99250	SCN2A	1570	I	T	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1571T	False	False	False	False	False	Q99250_1570_T
Q99250	SCN2A	1507	K	I	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K1508I	False	False	False	False	False	Q99250_1507_I
Q99250	SCN2A	1649	L	I	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1650I	False	False	False	False	False	Q99250_1649_I
Q99250	SCN2A	1745	C	Y	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	C1746Y	False	False	True	True	False	Q99250_1745_Y
Q99250	SCN2A	1311	R	S	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1312S	False	False	False	False	False	Q99250_1311_S
Q99250	SCN2A	417	N	I	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N418I	False	False	False	False	False	Q99250_417_I
Q99250	SCN2A	1656	L	F	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1657F	False	False	False	False	False	Q99250_1656_F
Q99250	SCN2A	429	E	K	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E430K	False	False	False	False	False	Q99250_429_K
Q99250	SCN2A	235	T	S	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T236S	False	False	False	False	False	Q99250_235_S
Q15031	LARS2	556	Y	C	1	ClinVar	no assertion criteria provided	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	Y557C	False	True	False	True	False	Q15031_556_C
P47870	GABRB2	285	T	I	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	T286I	False	False	False	False	False	P47870_285_I
O00555	CACNA1A	917	G	C	1	ClinVar	no assertion criteria provided	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G918C	False	True	False	True	False	O00555_917_C
O60741	HCN1	379	I	F	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	I380F	False	False	False	False	False	O60741_379_F
Q9UQD0	SCN8A	474	R	W	0	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R475W	False	False	False	False	False	Q9UQD0_474_W
Q99250	SCN2A	378	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R379H	False	False	False	False	False	Q99250_378_H
Q9NVF7	FBXO28	63	L	R	1	ClinVar	no assertion criteria provided	0.01358695652173913	F-box only protein 28	L64R	False	False	False	False	False	Q9NVF7_63_R
Q9NVF7	FBXO28	347	R	G	1	ClinVar	no assertion criteria provided	0.01358695652173913	F-box only protein 28	R348G	False	False	False	False	False	Q9NVF7_347_G
O76039	CDKL5	210	F	S	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	F211S	False	False	False	False	False	O76039_210_S
Q6UXM1	LIG3	608	P	L	1	ClinVar	no assertion criteria provided	0.02680965147453083	Leucine-rich repeats and immunoglobulin-like domai	P609L	False	False	False	False	False	Q6UXM1_608_L
Q9UQ90	SPG7	649	D	Y	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	D650Y	False	False	False	False	False	Q9UQ90_649_Y
P61266	STX1B	238	S	F	1	ClinVar	criteria provided, single submitter	0.013888888888888888	Syntaxin-1B (Syntaxin-1B1) (Syntaxin-1B2)	S239F	False	False	False	False	False	P61266_238_F
Q15878	CACNA1E	699	A	T	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A700T	False	False	False	False	False	Q15878_699_T
Q15878	CACNA1E	1421	I	F	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	I1422F	False	False	False	False	False	Q15878_1421_F
Q15878	CACNA1E	1424	T	N	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	T1425N	False	False	False	False	False	Q15878_1424_N
Q9NP73	ALG13	1004	P	S	1	ClinVar	no assertion criteria provided	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	P1005S	False	False	False	False	False	Q9NP73_1004_S
Q5T481	RBM20	1177	M	I	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	M1178I	False	False	False	False	False	Q5T481_1177_I
P35498	SCN1A	1325	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1326T	False	False	False	False	False	P35498_1325_T
O00555	CACNA1A	2043	T	A	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T2044A	False	False	False	False	False	O00555_2043_A
O76039	CDKL5	201	G	W	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G202W	False	False	False	False	False	O76039_201_W
O95831	AIFM1	491	Y	C	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	Y492C	False	True	False	True	False	O95831_491_C
P20929	NEB	7527	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A7528T	False	False	False	False	False	P20929_7527_T
O95140	MFN2	127	H	N	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H128N	False	False	False	False	False	O95140_127_N
P35498	SCN1A	1229	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1230F	False	False	False	False	False	P35498_1229_F
Q15878	CACNA1E	2285	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2286Q	False	False	False	False	False	Q15878_2285_Q
P12111	COL6A3	3105	L	F	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	L3106F	False	False	False	False	False	P12111_3105_F
P12111	COL6A3	306	G	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009442870632672332	Collagen alpha-3(VI) chain	G307D	False	False	False	False	False	P12111_306_D
P20929	NEB	6988	Y	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6989F	False	False	False	False	False	P20929_6988_F
Q99715	COL12A1	1058	T	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T1059N	False	False	False	False	False	Q99715_1058_N
Q99715	COL12A1	312	I	T	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	I313T	False	False	False	False	False	Q99715_312_T
P35498	SCN1A	1310	A	T	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1311T	False	False	False	False	False	P35498_1310_T
P35498	SCN1A	350	C	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C351S	False	False	True	True	False	P35498_350_S
P12109	COL6A1	306	R	C	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R307C	False	True	False	True	False	P12109_306_C
P23378	GLDC	201	A	G	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A202G	False	False	False	False	False	P23378_201_G
P23378	GLDC	155	G	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G156R	False	False	False	False	False	P23378_155_R
Q96QS3	ARX	331	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R332G	False	False	False	False	False	Q96QS3_331_G
Q99250	SCN2A	1483	G	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1484E	False	False	False	False	False	Q99250_1483_E
P23378	GLDC	732	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A733D	False	False	False	False	False	P23378_732_D
P23378	GLDC	614	P	L	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P615L	False	False	False	False	False	P23378_614_L
Q9UQD0	SCN8A	408	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V409A	False	False	False	False	False	Q9UQD0_408_A
Q9H845	ACAD9	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	M1L	True	False	False	False	True	Q9H845_0_L
Q8NCM2	KCNH5	118	E	G	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	E119G	False	False	False	False	False	Q8NCM2_118_G
P20929	NEB	1880	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1881T	False	False	False	False	False	P20929_1880_T
O43526	KCNQ2	277	I	M	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I278M	False	False	False	False	False	O43526_277_M
P68133	ACTA1	185	D	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D186N	False	False	False	False	False	P68133_185_N
Q99250	SCN2A	972	V	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V973L	False	False	False	False	False	Q99250_972_L
Q15878	CACNA1E	2203	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	N2204S	False	False	False	False	False	Q15878_2203_S
Q8TAB3	PCDH19	248	E	D	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E249D	False	False	False	False	False	Q8TAB3_248_D
O95363	FARS2	141	D	N	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	D142N	False	False	False	False	False	O95363_141_N
P35498	SCN1A	1799	L	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1800R	False	False	False	False	False	P35498_1799_R
P12111	COL6A3	686	P	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P687S	False	False	False	False	False	P12111_686_S
Q9Y276	BCS1L	77	S	I	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	S78I	False	False	False	False	False	Q9Y276_77_I
P12883	MYH7	869	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R870P	False	False	False	False	False	P12883_869_P
P12109	COL6A1	975	R	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R976H	False	False	False	False	False	P12109_975_H
Q96PR1	KCNC2	350	R	K	1	ClinVar	criteria provided, single submitter	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	R351K	False	False	False	False	False	Q96PR1_350_K
Q00839	HNRNPU	183	A	V	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A184V	False	False	False	False	False	Q00839_183_V
P05166	PCCB	278	P	R	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	P279R	False	False	False	False	False	P05166_278_R
Q14315	FLNC	1277	R	T	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1278T	False	False	False	False	False	Q14315_1277_T
Q9UQ90	SPG7	353	G	A	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	G354A	False	False	False	False	False	Q9UQ90_353_A
Q14721	KCNB1	514	A	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A515V	False	False	False	False	False	Q14721_514_V
P20929	NEB	6618	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6619C	False	True	False	True	False	P20929_6618_C
Q99715	COL12A1	432	R	H	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R433H	False	False	False	False	False	Q99715_432_H
Q99250	SCN2A	1878	M	T	1	ClinVar	reviewed by expert panel	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1879T	False	False	False	False	False	Q99250_1878_T
P12883	MYH7	821	M	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M822T	False	False	False	False	False	P12883_821_T
Q99250	SCN2A	221	L	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L222I	False	False	False	False	False	Q99250_221_I
P23378	GLDC	961	R	Q	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R962Q	False	False	False	False	False	P23378_961_Q
P35609	ACTN2	533	G	S	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	G534S	False	False	False	False	False	P35609_533_S
P20929	NEB	6279	L	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L6280P	False	False	False	False	False	P20929_6279_P
P20929	NEB	6141	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T6142I	False	False	False	False	False	P20929_6141_I
P36776	LONP1	910	V	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V911L	False	False	False	False	False	P36776_910_L
P35498	SCN1A	1370	G	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1371V	False	False	False	False	False	P35498_1370_V
P23378	GLDC	918	F	V	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	F919V	False	False	False	False	False	P23378_918_V
P49821	NDUFV1	385	R	L	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R386L	False	False	False	False	False	P49821_385_L
Q99715	COL12A1	1808	V	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V1809I	False	False	False	False	False	Q99715_1808_I
Q99250	SCN2A	1886	N	T	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N1887T	False	False	False	False	False	Q99250_1886_T
O00555	CACNA1A	2235	G	S	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G2236S	False	False	False	False	False	O00555_2235_S
P40939	HADHA	732	L	P	1	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	L733P	False	False	False	False	False	P40939_732_P
P20929	NEB	2129	A	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2130D	False	False	False	False	False	P20929_2129_D
Q14315	FLNC	333	R	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R334S	False	False	False	False	False	Q14315_333_S
P20929	NEB	2310	G	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G2311A	False	False	False	False	False	P20929_2310_A
P35498	SCN1A	1291	V	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1292L	False	False	False	False	False	P35498_1291_L
Q5T481	RBM20	18	P	T	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P19T	True	False	False	False	True	Q5T481_18_T
Q00839	HNRNPU	96	S	F	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	S97F	False	False	False	False	False	Q00839_96_F
P12111	COL6A3	471	I	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I472T	False	False	False	False	False	P12111_471_T
P15924	DSP	775	A	G	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A776G	False	False	False	False	False	P15924_775_G
P36776	LONP1	251	A	T	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A252T	False	False	False	False	False	P36776_251_T
P15924	DSP	1045	D	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	D1046V	False	False	False	False	False	P15924_1045_V
P12111	COL6A3	307	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A308T	False	False	False	False	False	P12111_307_T
P61764	STXBP1	496	K	R	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	K497R	False	False	False	False	False	P61764_496_R
O95140	MFN2	133	L	Q	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L134Q	False	False	False	False	False	O95140_133_Q
P20929	NEB	372	R	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R373G	False	False	False	False	False	P20929_372_G
P35498	SCN1A	1360	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1361L	False	False	False	False	False	P35498_1360_L
Q13496	MTM1	206	R	C	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	R207C	False	True	False	True	False	Q13496_206_C
Q8NCM2	KCNH5	750	S	N	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	S751N	False	False	False	False	False	Q8NCM2_750_N
P23378	GLDC	375	K	T	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	K376T	False	False	False	False	False	P23378_375_T
P48728	AMT	295	R	L	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R296L	False	False	False	False	False	P48728_295_L
O00142	TK2	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	M1L	True	False	False	False	True	O00142_0_L
P55072	VCP	90	N	K	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	N91K	False	False	False	False	False	P55072_90_K
P68133	ACTA1	169	G	D	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G170D	False	False	False	False	False	P68133_169_D
P35498	SCN1A	1640	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1641T	False	False	False	False	False	P35498_1640_T
Q08209	PPP3CA	233	D	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	D234E	False	False	False	False	False	Q08209_233_E
Q5T160	RARS2	0	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1T	True	False	False	False	True	Q5T160_0_T
O43526	KCNQ2	197	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R198W	False	False	False	False	False	O43526_197_W
P12110	COL6A2	267	G	R	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G268R	False	False	False	False	False	P12110_267_R
P68133	ACTA1	326	M	K	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M327K	False	False	False	False	False	P68133_326_K
O95140	MFN2	229	E	K	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	E230K	False	False	False	False	False	O95140_229_K
O43526	KCNQ2	139	E	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	E140A	False	False	False	False	False	O43526_139_A
Q9UQD0	SCN8A	210	V	G	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V211G	False	False	False	False	False	Q9UQD0_210_G
Q00839	HNRNPU	393	E	Q	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	E394Q	False	False	False	False	False	Q00839_393_Q
Q8NCM2	KCNH5	953	K	E	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	K954E	False	False	False	False	False	Q8NCM2_953_E
P35498	SCN1A	1440	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1441V	False	False	False	False	False	P35498_1440_V
P35498	SCN1A	872	W	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W873C	False	True	False	True	False	P35498_872_C
O00555	CACNA1A	504	I	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I505V	False	False	False	False	False	O00555_504_V
P20929	NEB	7123	R	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7124C	False	True	False	True	False	P20929_7123_C
P12111	COL6A3	1250	V	F	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V1251F	False	False	False	False	False	P12111_1250_F
P23378	GLDC	650	H	D	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H651D	False	False	False	False	False	P23378_650_D
Q8TAB3	PCDH19	197	R	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	R198G	False	False	False	False	False	Q8TAB3_197_G
P12109	COL6A1	897	T	M	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	T898M	False	False	False	False	False	P12109_897_M
O43526	KCNQ2	270	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G271S	False	False	False	False	False	O43526_270_S
O00555	CACNA1A	1391	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1392A	False	False	False	False	False	O00555_1391_A
Q14315	FLNC	897	G	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G898S	False	False	False	False	False	Q14315_897_S
P68032	ACTC1	51	K	T	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	K52T	False	False	False	False	False	P68032_51_T
Q14315	FLNC	255	Q	R	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	Q256R	False	False	False	False	False	Q14315_255_R
P15924	DSP	2825	R	G	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R2826G	False	False	False	False	False	P15924_2825_G
O43526	KCNQ2	350	L	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L351R	False	False	False	False	False	O43526_350_R
O00555	CACNA1A	1707	I	L	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1708L	False	False	False	False	False	O00555_1707_L
O14647	CHD2	899	R	L	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R900L	False	False	False	False	False	O14647_899_L
P21912	SDHB	195	C	R	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C196R	False	False	True	True	False	P21912_195_R
P20929	NEB	1025	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H1026R	False	False	False	False	False	P20929_1025_R
Q5T481	RBM20	240	G	R	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G241R	False	False	False	False	False	Q5T481_240_R
P23378	GLDC	149	N	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N150S	False	False	False	False	False	P23378_149_S
Q14315	FLNC	1994	R	C	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1995C	False	True	False	True	False	Q14315_1994_C
P20929	NEB	2438	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S2439L	False	False	False	False	False	P20929_2438_L
Q5T481	RBM20	569	M	V	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	M570V	False	False	False	False	False	Q5T481_569_V
Q9UQ90	SPG7	323	F	S	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	F324S	False	False	False	False	False	Q9UQ90_323_S
A2RRP1	NBAS	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	M1L	True	False	False	False	True	A2RRP1_0_L
P23378	GLDC	155	G	E	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G156E	False	False	False	False	False	P23378_155_E
O00555	CACNA1A	799	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D800E	False	False	False	False	False	O00555_799_E
P35498	SCN1A	1369	A	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1370P	False	False	False	False	False	P35498_1369_P
P36776	LONP1	248	E	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	E249Q	False	False	False	False	False	P36776_248_Q
P36776	LONP1	348	V	I	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V349I	False	False	False	False	False	P36776_348_I
P09471	GNAO1	51	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Q52R	False	False	False	False	False	P09471_51_R
Q99715	COL12A1	1312	Q	K	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	Q1313K	False	False	False	False	False	Q99715_1312_K
P23378	GLDC	987	R	G	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R988G	False	False	False	False	False	P23378_987_G
P12883	MYH7	845	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E846K	False	False	False	False	False	P12883_845_K
P61764	STXBP1	374	G	D	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G375D	False	False	False	False	False	P61764_374_D
O00555	CACNA1A	986	R	G	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R987G	False	False	False	False	False	O00555_986_G
Q9UQD0	SCN8A	1527	I	N	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1528N	False	False	False	False	False	Q9UQD0_1527_N
Q13224	GRIN2B	716	A	V	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A717V	False	False	False	False	False	Q13224_716_V
Q14721	KCNB1	409	P	L	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P410L	False	False	False	False	False	Q14721_409_L
P12110	COL6A2	294	G	V	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G295V	False	False	False	False	False	P12110_294_V
C9JR72	KBTBD13	125	A	T	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	A126T	False	False	False	True	False	C9JR72_125_T
P35498	SCN1A	1731	P	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1732L	False	False	False	False	False	P35498_1731_L
P35498	SCN1A	1415	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1416G	False	False	False	False	False	P35498_1415_G
P35498	SCN1A	311	F	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F312S	False	False	False	False	False	P35498_311_S
Q9Y276	BCS1L	113	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R114W	False	False	False	False	False	Q9Y276_113_W
P08243	ASNS	397	Y	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	Y398S	False	False	False	False	False	P08243_397_S
O95140	MFN2	273	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R274W	False	False	False	False	False	O95140_273_W
P12883	MYH7	1597	Q	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q1598P	False	False	False	False	False	P12883_1597_P
P38606	ATP6V1A	318	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	P319S	False	False	False	False	False	P38606_318_S
Q8TAB3	PCDH19	196	D	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D197G	False	False	False	False	False	Q8TAB3_196_G
O76039	CDKL5	156	A	P	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A157P	False	False	False	False	False	O76039_156_P
Q9UKA2	FBXL4	565	I	V	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	I566V	False	False	False	True	False	Q9UKA2_565_V
Q5T481	RBM20	863	Q	P	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	Q864P	False	False	False	False	False	Q5T481_863_P
P12109	COL6A1	784	G	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G785S	False	False	False	False	False	P12109_784_S
O43526	KCNQ2	355	L	Q	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L356Q	False	False	False	False	False	O43526_355_Q
Q15878	CACNA1E	2076	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2077H	False	False	False	False	False	Q15878_2076_H
Q13224	GRIN2B	845	F	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	F846L	False	False	False	False	False	Q13224_845_L
Q99250	SCN2A	975	N	K	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N976K	False	False	False	False	False	Q99250_975_K
Q5JUK3	KCNT1	7	R	G	0	ClinVar	criteria provided, single submitter	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	R8G	True	False	False	False	True	Q5JUK3_7_G
P35498	SCN1A	1418	G	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1419V	False	False	False	False	False	P35498_1418_V
Q9UQD0	SCN8A	1322	A	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1323S	False	False	False	False	False	Q9UQD0_1322_S
O00555	CACNA1A	2195	D	E	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D2196E	False	False	False	False	False	O00555_2195_E
Q99715	COL12A1	625	A	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A626V	False	False	False	False	False	Q99715_625_V
O60741	HCN1	80	F	L	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	F81L	False	False	False	False	False	O60741_80_L
P36776	LONP1	277	V	I	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	V278I	False	False	False	False	False	P36776_277_I
Q13224	GRIN2B	62	S	F	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S63F	False	False	False	False	False	Q13224_62_F
P35498	SCN1A	1657	T	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1658S	False	False	False	False	False	P35498_1657_S
P35498	SCN1A	393	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A394V	False	False	False	False	False	P35498_393_V
Q05639	EEF1A2	16	D	G	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	D17G	True	False	False	False	True	Q05639_16_G
P09471	GNAO1	103	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	A104T	False	False	False	False	False	P09471_103_T
P12110	COL6A2	285	G	R	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G286R	False	False	False	False	False	P12110_285_R
P12111	COL6A3	798	M	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	M799V	False	False	False	False	False	P12111_798_V
Q99250	SCN2A	413	F	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F414L	False	False	False	False	False	Q99250_413_L
O60313	OPA1	537	Q	R	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	Q538R	False	False	False	False	False	O60313_537_R
P61764	STXBP1	170	R	H	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R171H	False	False	False	False	False	P61764_170_H
P61764	STXBP1	269	G	V	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G270V	False	False	False	False	False	P61764_269_V
O00555	CACNA1A	793	Y	F	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y794F	False	False	False	False	False	O00555_793_F
P35498	SCN1A	419	A	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A420P	False	False	False	False	False	P35498_419_P
P12110	COL6A2	273	G	D	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G274D	False	False	False	False	False	P12110_273_D
Q8NCM2	KCNH5	778	R	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R779S	False	False	False	False	False	Q8NCM2_778_S
Q8TAB3	PCDH19	233	N	T	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	N234T	False	False	False	False	False	Q8TAB3_233_T
Q8TAB3	PCDH19	322	P	T	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P323T	False	False	False	False	False	Q8TAB3_322_T
P35498	SCN1A	297	V	M	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V298M	False	False	False	False	False	P35498_297_M
P23378	GLDC	906	P	L	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P907L	False	False	False	False	False	P23378_906_L
P55072	VCP	157	M	V	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	M158V	False	False	False	False	False	P55072_157_V
P55072	VCP	156	G	R	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	G157R	False	False	False	False	False	P55072_156_R
P55072	VCP	154	R	S	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R155S	False	False	False	False	False	P55072_154_S
P61764	STXBP1	58	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	E59K	False	False	False	False	False	P61764_58_K
P35498	SCN1A	1641	R	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1642S	False	False	False	False	False	P35498_1641_S
Q9Y276	BCS1L	305	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R306C	False	True	False	True	False	Q9Y276_305_C
P35498	SCN1A	101	F	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F102S	False	False	False	False	False	P35498_101_S
Q14721	KCNB1	209	T	K	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T210K	False	False	False	False	False	Q14721_209_K
P20929	NEB	1898	T	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T1899N	False	False	False	False	False	P20929_1898_N
Q13224	GRIN2B	610	G	R	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G611R	False	False	False	False	False	Q13224_610_R
P12109	COL6A1	779	S	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	S780P	False	False	False	False	False	P12109_779_P
P35498	SCN1A	954	T	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T955S	False	False	False	False	False	P35498_954_S
O00555	CACNA1A	538	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G539R	False	False	False	False	False	O00555_538_R
P35498	SCN1A	313	W	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W314R	False	False	False	False	False	P35498_313_R
P12111	COL6A3	177	E	D	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E178D	False	False	False	False	False	P12111_177_D
Q9UQD0	SCN8A	1187	R	W	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R1188W	False	False	False	False	False	Q9UQD0_1187_W
O95140	MFN2	87	I	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	I88L	False	False	False	False	False	O95140_87_L
Q99250	SCN2A	1879	E	K	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E1880K	False	False	False	False	False	Q99250_1879_K
O95140	MFN2	356	K	T	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	K357T	False	False	False	False	False	O95140_356_T
P35498	SCN1A	1267	L	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1268R	False	False	False	False	False	P35498_1267_R
P35498	SCN1A	1712	S	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1713I	False	False	False	False	False	P35498_1712_I
P35498	SCN1A	270	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G271S	False	False	False	False	False	P35498_270_S
Q99715	COL12A1	2313	R	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R2314Q	False	False	False	False	False	Q99715_2313_Q
P20929	NEB	1850	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1851E	False	False	False	False	False	P20929_1850_E
P12110	COL6A2	294	G	E	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G295E	False	False	False	False	False	P12110_294_E
P35498	SCN1A	1672	I	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1673V	False	False	False	False	False	P35498_1672_V
P35498	SCN1A	1080	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1081R	False	False	False	False	False	P35498_1080_R
Q99250	SCN2A	211	N	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N212S	False	False	False	False	False	Q99250_211_S
O00555	CACNA1A	1807	V	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1808I	False	False	False	False	False	O00555_1807_I
P68133	ACTA1	115	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A116T	False	False	False	False	False	P68133_115_T
P15924	DSP	1680	R	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1681K	False	False	False	False	False	P15924_1680_K
Q5JUK3	KCNT1	436	L	I	1	ClinVar	criteria provided, single submitter	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	L437I	False	False	False	False	False	Q5JUK3_436_I
P35498	SCN1A	894	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L895P	False	False	False	False	False	P35498_894_P
P20929	NEB	3558	R	G	1	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R3559G	False	False	False	False	False	P20929_3558_G
O00555	CACNA1A	1202	E	K	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E1203K	False	False	False	False	False	O00555_1202_K
O95831	AIFM1	109	Q	K	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	Q110K	False	False	False	False	False	O95831_109_K
Q9UM47	NOTCH3	64	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C65Y	False	False	True	True	False	Q9UM47_64_Y
P35498	SCN1A	339	S	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S340P	False	False	False	False	False	P35498_339_P
Q00839	HNRNPU	477	N	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N478S	False	False	False	False	False	Q00839_477_S
P36776	LONP1	159	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A160T	False	False	False	False	False	P36776_159_T
P61764	STXBP1	542	G	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G543R	False	False	False	False	False	P61764_542_R
O76039	CDKL5	212	G	R	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G213R	False	False	False	False	False	O76039_212_R
O60706	ABCC9	206	D	A	1	ClinVar	criteria provided, single submitter	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	D207A	False	False	False	False	False	O60706_206_A
Q13496	MTM1	196	T	I	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	T197I	False	False	False	False	False	Q13496_196_I
P09471	GNAO1	198	L	P	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	L199P	False	False	False	False	False	P09471_198_P
Q14315	FLNC	1894	A	P	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A1895P	False	False	False	False	False	Q14315_1894_P
P15924	DSP	2860	S	F	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	S2861F	False	False	False	False	False	P15924_2860_F
Q13224	GRIN2B	25	A	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A26T	True	False	False	False	True	Q13224_25_T
Q99715	COL12A1	1368	D	Y	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	D1369Y	False	False	False	False	False	Q99715_1368_Y
P20929	NEB	2078	R	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R2079H	False	False	False	False	False	P20929_2078_H
P12111	COL6A3	302	A	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A303S	False	False	False	False	False	P12111_302_S
Q14315	FLNC	221	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	M222V	False	False	False	False	False	Q14315_221_V
Q14721	KCNB1	319	L	P	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L320P	False	False	False	False	False	Q14721_319_P
P68133	ACTA1	47	G	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G48R	True	False	False	False	True	P68133_47_R
Q99250	SCN2A	986	S	C	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S987C	False	True	False	True	False	Q99250_986_C
P35498	SCN1A	951	W	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W952C	False	True	False	True	False	P35498_951_C
O75899	GABBR2	697	N	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	N698S	False	False	False	False	False	O75899_697_S
Q14721	KCNB1	843	L	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L844S	False	False	False	False	False	Q14721_843_S
P12111	COL6A3	2155	D	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	D2156H	False	False	False	False	False	P12111_2155_H
Q14721	KCNB1	589	S	N	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S590N	False	False	False	False	False	Q14721_589_N
O00555	CACNA1A	415	P	A	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P416A	False	False	False	False	False	O00555_415_A
P35498	SCN1A	298	N	D	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N299D	False	False	False	False	False	P35498_298_D
P46976	GYG1	0	M	I	1	ClinVar	criteria provided, single submitter	0.017142857142857144	Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)	M1I	True	False	False	False	True	P46976_0_I
P12109	COL6A1	659	A	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A660T	False	False	False	False	False	P12109_659_T
P35498	SCN1A	99	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F100L	False	False	False	False	False	P35498_99_L
P12109	COL6A1	324	R	G	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R325G	False	False	False	False	False	P12109_324_G
P20929	NEB	6815	R	W	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R6816W	False	False	False	False	False	P20929_6815_W
P20929	NEB	5866	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V5867M	False	False	False	False	False	P20929_5866_M
P35498	SCN1A	1357	W	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1358L	False	False	False	False	False	P35498_1357_L
P12111	COL6A3	325	L	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	L326V	False	False	False	False	False	P12111_325_V
P12110	COL6A2	352	P	L	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	P353L	False	False	False	False	False	P12110_352_L
P12883	MYH7	729	I	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I730N	False	False	False	False	False	P12883_729_N
O60313	OPA1	84	R	G	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	R85G	False	False	False	False	False	O60313_84_G
P15924	DSP	1907	R	G	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1908G	False	False	False	False	False	P15924_1907_G
Q9UQD0	SCN8A	1083	M	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1084V	False	False	False	False	False	Q9UQD0_1083_V
P20929	NEB	6716	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T6717I	False	False	False	False	False	P20929_6716_I
Q99715	COL12A1	1124	G	E	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G1125E	False	False	False	False	False	Q99715_1124_E
P12110	COL6A2	156	A	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	A157T	False	False	False	False	False	P12110_156_T
P61764	STXBP1	176	A	T	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A177T	False	False	False	False	False	P61764_176_T
P20929	NEB	8061	H	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H8062Q	False	False	False	False	False	P20929_8061_Q
Q8NCM2	KCNH5	326	R	C	1	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R327C	False	True	False	True	False	Q8NCM2_326_C
P12110	COL6A2	699	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G700D	False	False	False	False	False	P12110_699_D
P48728	AMT	97	M	R	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	M98R	False	False	False	False	False	P48728_97_R
P35498	SCN1A	112	P	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P113S	False	False	False	False	False	P35498_112_S
P20929	NEB	718	P	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P719T	False	False	False	False	False	P20929_718_T
Q13224	GRIN2B	189	I	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I190V	False	False	False	False	False	Q13224_189_V
Q9NR50	EIF2B3	224	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	R225W	False	False	False	False	False	Q9NR50_224_W
P12111	COL6A3	3040	T	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	T3041M	False	False	False	False	False	P12111_3040_M
O14647	CHD2	895	Q	E	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Q896E	False	False	False	False	False	O14647_895_E
Q14721	KCNB1	637	V	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V638L	False	False	False	False	False	Q14721_637_L
P35498	SCN1A	1676	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1677F	False	False	False	False	False	P35498_1676_F
P23378	GLDC	614	P	T	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P615T	False	False	False	False	False	P23378_614_T
Q13586	STIM1	87	S	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0072992700729927005	Stromal interaction molecule 1	S88G	False	False	False	False	False	Q13586_87_G
P35609	ACTN2	774	H	L	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	H775L	False	False	False	False	False	P35609_774_L
P23378	GLDC	762	G	D	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G763D	False	False	False	False	False	P23378_762_D
Q9UHP9	SMPX	77	S	N	1	ClinVar	criteria provided, single submitter	0.011363636363636364	Small muscular protein (Stretch-responsive skeleta	S78N	False	False	False	False	False	Q9UHP9_77_N
Q13224	GRIN2B	1473	Y	C	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	Y1474C	False	True	False	True	False	Q13224_1473_C
Q14315	FLNC	89	P	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P90S	False	False	False	False	False	Q14315_89_S
P15924	DSP	2312	E	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E2313K	False	False	False	False	False	P15924_2312_K
P12883	MYH7	656	K	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K657N	False	False	False	False	False	P12883_656_N
P12111	COL6A3	545	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A546T	False	False	False	False	False	P12111_545_T
Q13224	GRIN2B	1049	S	G	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S1050G	False	False	False	False	False	Q13224_1049_G
P20929	NEB	1859	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1860R	False	False	False	False	False	P20929_1859_R
P09471	GNAO1	200	D	V	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D201V	False	False	False	False	False	P09471_200_V
P09471	GNAO1	205	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R206L	False	False	False	False	False	P09471_205_L
O60741	HCN1	386	A	P	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A387P	False	False	False	False	False	O60741_386_P
P05166	PCCB	164	R	G	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R165G	False	False	False	False	False	P05166_164_G
Q9H845	ACAD9	0	M	I	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	M1I	True	False	False	False	True	Q9H845_0_I
P20929	NEB	8275	T	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T8276S	False	False	False	False	False	P20929_8275_S
Q9H845	ACAD9	413	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R414S	False	False	False	False	False	Q9H845_413_S
P05166	PCCB	375	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R376C	False	True	False	True	False	P05166_375_C
P20929	NEB	895	P	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P896L	False	False	False	False	False	P20929_895_L
P20929	NEB	7667	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7668E	False	False	False	False	False	P20929_7667_E
P48728	AMT	282	P	S	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	P283S	False	False	False	False	False	P48728_282_S
P54098	POLG	302	G	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G303R	False	False	False	False	False	P54098_302_R
Q00839	HNRNPU	761	R	C	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	R762C	False	True	False	True	False	Q00839_761_C
P35498	SCN1A	1514	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1515R	False	False	False	False	False	P35498_1514_R
P35498	SCN1A	136	T	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T137P	False	False	False	False	False	P35498_136_P
P68133	ACTA1	41	H	Y	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	H42Y	True	False	False	False	True	P68133_41_Y
P12109	COL6A1	304	G	R	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G305R	False	False	False	False	False	P12109_304_R
P12109	COL6A1	311	S	A	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S312A	False	False	False	False	False	P12109_311_A
P12111	COL6A3	1720	V	A	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V1721A	False	False	False	False	False	P12111_1720_A
P36776	LONP1	596	R	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R597Q	False	False	False	False	False	P36776_596_Q
P23378	GLDC	738	R	C	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R739C	False	True	False	True	False	P23378_738_C
Q99250	SCN2A	437	E	Q	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E438Q	False	False	False	False	False	Q99250_437_Q
P05165	PCCA	398	R	L	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R399L	False	False	False	False	False	P05165_398_L
Q13224	GRIN2B	141	M	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M142T	False	False	False	False	False	Q13224_141_T
O43526	KCNQ2	249	V	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V250A	False	False	False	False	False	O43526_249_A
P35498	SCN1A	1168	V	G	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1169G	False	False	False	False	False	P35498_1168_G
Q8TAB3	PCDH19	595	D	Y	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D596Y	False	False	False	False	False	Q8TAB3_595_Y
O00555	CACNA1A	1590	V	A	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1591A	False	False	False	False	False	O00555_1590_A
Q9UQD0	SCN8A	1522	A	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1523D	False	False	False	False	False	Q9UQD0_1522_D
P35498	SCN1A	979	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N980K	False	False	False	False	False	P35498_979_K
P11498	PC	1014	D	N	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	D1015N	False	False	False	False	False	P11498_1014_N
P19429	TNNI3	182	K	N	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	K183N	False	False	False	False	False	P19429_182_N
O43426	SYNJ1	1240	L	M	0	ClinVar	criteria provided, single submitter	0.012714558169103624	Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,	L1241M	False	False	False	False	False	O43426_1240_M
P35609	ACTN2	825	D	N	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	D826N	False	False	False	False	False	P35609_825_N
P35498	SCN1A	345	P	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P346S	False	False	False	False	False	P35498_345_S
Q9UQD0	SCN8A	1868	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1869V	False	False	False	False	False	Q9UQD0_1868_V
P35498	SCN1A	1297	S	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1298T	False	False	False	False	False	P35498_1297_T
P35498	SCN1A	76	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L77P	False	False	False	False	False	P35498_76_P
Q00839	HNRNPU	712	N	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N713S	False	False	False	False	False	Q00839_712_S
P20929	NEB	1652	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y1653C	False	True	False	True	False	P20929_1652_C
P12111	COL6A3	1520	E	K	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E1521K	False	False	False	False	False	P12111_1520_K
Q99250	SCN2A	852	R	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R853P	False	False	False	False	False	Q99250_852_P
O43526	KCNQ2	228	S	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S229I	False	False	False	False	False	O43526_228_I
Q9UJS0	SLC25A13	251	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	E252K	False	False	False	False	False	Q9UJS0_251_K
P54098	POLG	573	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R574W	False	False	False	False	False	P54098_573_W
Q14721	KCNB1	389	G	E	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G390E	False	False	False	False	False	Q14721_389_E
P23378	GLDC	372	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R373Q	False	False	False	False	False	P23378_372_Q
O14647	CHD2	845	R	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R846G	False	False	False	False	False	O14647_845_G
P23378	GLDC	470	S	P	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S471P	False	False	False	False	False	P23378_470_P
P23378	GLDC	369	Q	K	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Q370K	False	False	False	False	False	P23378_369_K
Q8TAB3	PCDH19	343	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	P344R	False	False	False	False	False	Q8TAB3_343_R
O60313	OPA1	51	R	Q	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	R52Q	False	False	False	False	False	O60313_51_Q
P36776	LONP1	813	A	T	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A814T	False	False	False	False	False	P36776_813_T
P12111	COL6A3	2345	S	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S2346L	False	False	False	False	False	P12111_2345_L
O60313	OPA1	42	S	P	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	S43P	True	False	False	False	True	O60313_42_P
O00555	CACNA1A	271	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	C272Y	False	False	True	True	False	O00555_271_Y
P35498	SCN1A	60	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L61F	False	False	False	False	False	P35498_60_F
P31040	SDHA	0	M	I	1	ClinVar	criteria provided, single submitter	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	M1I	True	False	False	False	True	P31040_0_I
O60741	HCN1	713	A	S	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A714S	False	False	False	False	False	O60741_713_S
P05165	PCCA	229	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R230H	False	False	False	False	False	P05165_229_H
Q99715	COL12A1	1290	R	K	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R1291K	False	False	False	False	False	Q99715_1290_K
Q05193	DNM1	263	S	Y	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	S264Y	False	False	False	False	False	Q05193_263_Y
Q9UM47	NOTCH3	480	G	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G481C	False	True	False	True	False	Q9UM47_480_C
Q99250	SCN2A	1487	I	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1488V	False	False	False	False	False	Q99250_1487_V
P23378	GLDC	961	R	W	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R962W	False	False	False	False	False	P23378_961_W
P12883	MYH7	695	N	Y	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N696Y	False	False	False	False	False	P12883_695_Y
P12883	MYH7	709	P	A	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P710A	False	False	False	False	False	P12883_709_A
Q99715	COL12A1	665	Y	C	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	Y666C	False	True	False	True	False	Q99715_665_C
O43526	KCNQ2	102	V	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V103D	False	False	False	False	False	O43526_102_D
Q9UQD0	SCN8A	1495	G	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G1496D	False	False	False	False	False	Q9UQD0_1495_D
P20929	NEB	8445	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8446Q	False	False	False	False	False	P20929_8445_Q
O00555	CACNA1A	2071	R	G	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2072G	False	False	False	False	False	O00555_2071_G
Q13224	GRIN2B	1114	R	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1115H	False	False	False	False	False	Q13224_1114_H
P12110	COL6A2	887	Q	R	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	Q888R	False	False	False	False	False	P12110_887_R
O95363	FARS2	141	D	G	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	D142G	False	False	False	False	False	O95363_141_G
Q05193	DNM1	420	R	Q	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R421Q	False	False	False	False	False	Q05193_420_Q
P12111	COL6A3	160	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P161L	False	False	False	False	False	P12111_160_L
Q8NCM2	KCNH5	815	N	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	N816S	False	False	False	False	False	Q8NCM2_815_S
P35498	SCN1A	1194	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1195S	False	False	False	False	False	P35498_1194_S
O75899	GABBR2	347	G	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	G348S	False	False	False	False	False	O75899_347_S
P12111	COL6A3	2320	P	Q	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P2321Q	False	False	False	False	False	P12111_2320_Q
P23378	GLDC	892	P	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P893S	False	False	False	False	False	P23378_892_S
Q8NCM2	KCNH5	45	G	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	G46S	True	False	False	False	True	Q8NCM2_45_S
Q9H845	ACAD9	14	R	C	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R15C	True	True	False	True	True	Q9H845_14_C
P20929	NEB	3921	E	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E3922D	False	False	False	False	False	P20929_3921_D
Q9UQD0	SCN8A	362	L	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L363V	False	False	False	False	False	Q9UQD0_362_V
P35498	SCN1A	1767	S	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1768G	False	False	False	False	False	P35498_1767_G
P28472	GABRB3	286	T	I	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	T287I	False	False	False	False	False	P28472_286_I
P35498	SCN1A	983	L	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L984V	False	False	False	False	False	P35498_983_V
Q13144	EIF2B5	67	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	L68S	False	False	False	False	False	Q13144_67_S
Q8TAB3	PCDH19	89	D	G	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D90G	False	False	False	False	False	Q8TAB3_89_G
Q99250	SCN2A	1274	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	C1275R	False	False	True	True	False	Q99250_1274_R
P08397	HMBS	166	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0110803324099723	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (H	R167P	False	False	False	False	False	P08397_166_P
Q14315	FLNC	1545	G	D	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G1546D	False	False	False	False	False	Q14315_1545_D
Q9UQD0	SCN8A	1537	T	K	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	T1538K	False	False	False	False	False	Q9UQD0_1537_K
P09622	DLD	352	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	I353T	False	False	False	False	False	P09622_352_T
Q14315	FLNC	2440	D	E	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	D2441E	False	False	False	False	False	Q14315_2440_E
P09471	GNAO1	41	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G42R	True	False	False	False	True	P09471_41_R
P12109	COL6A1	310	G	C	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G311C	False	True	False	True	False	P12109_310_C
P12110	COL6A2	268	A	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	A269T	False	False	False	False	False	P12110_268_T
Q9BYZ6	RHOBTB2	246	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	D247N	False	False	False	False	False	Q9BYZ6_246_N
P68133	ACTA1	234	S	Y	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	S235Y	False	False	False	False	False	P68133_234_Y
O75380	NDUFS6	114	C	R	1	ClinVar	criteria provided, single submitter	0.04838709677419355	NADH dehydrogenase [ubiquinone] iron-sulfur protei	C115R	False	False	True	True	False	O75380_114_R
P35498	SCN1A	865	V	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V866L	False	False	False	False	False	P35498_865_L
P35498	SCN1A	82	Y	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y83D	False	False	False	False	False	P35498_82_D
P12111	COL6A3	1180	I	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1181S	False	False	False	False	False	P12111_1180_S
P61764	STXBP1	109	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C110R	False	False	True	True	False	P61764_109_R
P20929	NEB	671	L	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L672S	False	False	False	False	False	P20929_671_S
O14521	SDHD	105	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	G106D	False	False	False	True	False	O14521_105_D
P12111	COL6A3	2243	E	K	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E2244K	False	False	False	False	False	P12111_2243_K
P36776	LONP1	581	T	M	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	T582M	False	False	False	False	False	P36776_581_M
P35498	SCN1A	1475	N	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1476S	False	False	False	False	False	P35498_1475_S
P12883	MYH7	601	N	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N602K	False	False	False	False	False	P12883_601_K
Q05193	DNM1	860	P	R	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	P861R	False	False	False	False	False	Q05193_860_R
O00555	CACNA1A	1730	Q	H	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Q1731H	False	False	False	False	False	O00555_1730_H
P35498	SCN1A	250	M	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M251L	False	False	False	False	False	P35498_250_L
P39210	MPV17	63	P	L	1	ClinVar	criteria provided, single submitter	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	P64L	False	False	False	False	False	P39210_63_L
P35609	ACTN2	259	E	D	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	E260D	False	False	False	False	False	P35609_259_D
Q96RP9	GFM1	303	K	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	K304E	False	False	False	False	False	Q96RP9_303_E
P68133	ACTA1	95	L	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	L96V	False	False	False	False	False	P68133_95_V
O43526	KCNQ2	240	L	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L241P	False	False	False	False	False	O43526_240_P
P20929	NEB	1708	E	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E1709Q	False	False	False	False	False	P20929_1708_Q
P36776	LONP1	187	T	M	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	T188M	False	False	False	False	False	P36776_187_M
Q13224	GRIN2B	979	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V980M	False	False	False	False	False	Q13224_979_M
P12109	COL6A1	869	D	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D870N	False	False	False	False	False	P12109_869_N
P35498	SCN1A	246	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L247P	False	False	False	False	False	P35498_246_P
P20929	NEB	520	L	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L521M	False	False	False	False	False	P20929_520_M
P15924	DSP	2258	C	Y	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	C2259Y	False	False	True	True	False	P15924_2258_Y
Q13224	GRIN2B	685	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V686M	False	False	False	False	False	Q13224_685_M
P12110	COL6A2	261	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G262C	False	True	False	True	False	P12110_261_C
P35498	SCN1A	328	G	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G329S	False	False	False	False	False	P35498_328_S
O76024	WFS1	701	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02247191011235955	Wolframin	G702S	False	False	False	False	False	O76024_701_S
Q86YT5	SLC13A5	459	T	N	1	ClinVar	criteria provided, single submitter	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	T460N	False	False	False	False	False	Q86YT5_459_N
P12111	COL6A3	2341	R	Q	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R2342Q	False	False	False	False	False	P12111_2341_Q
Q15049	MLC1	293	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	P294L	False	False	False	False	False	Q15049_293_L
Q5T160	RARS2	0	M	K	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1K	True	False	False	False	True	Q5T160_0_K
P35498	SCN1A	328	G	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G329D	False	False	False	False	False	P35498_328_D
O43526	KCNQ2	577	M	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M578L	False	False	False	False	False	O43526_577_L
O14647	CHD2	620	R	P	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R621P	False	False	False	False	False	O14647_620_P
P06753	TPM3	14	D	V	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	D15V	True	False	False	False	True	P06753_14_V
P35498	SCN1A	377	L	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L378Q	False	False	False	False	False	P35498_377_Q
P12111	COL6A3	2062	Y	C	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	Y2063C	False	True	False	True	False	P12111_2062_C
P21912	SDHB	242	C	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C243W	False	False	True	True	False	P21912_242_W
O00555	CACNA1A	2076	D	N	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D2077N	False	False	False	False	False	O00555_2076_N
P12109	COL6A1	930	S	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S931L	False	False	False	False	False	P12109_930_L
P35498	SCN1A	1428	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1429V	False	False	False	False	False	P35498_1428_V
P20929	NEB	8323	F	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F8324L	False	False	False	False	False	P20929_8323_L
Q5JTZ9	AARS2	721	R	W	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R722W	False	False	False	False	False	Q5JTZ9_721_W
P35498	SCN1A	1791	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1792T	False	False	False	False	False	P35498_1791_T
P35498	SCN1A	1321	R	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1322T	False	False	False	False	False	P35498_1321_T
P23378	GLDC	579	H	Q	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H580Q	False	False	False	False	False	P23378_579_Q
Q9Y276	BCS1L	0	M	V	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	M1V	True	False	False	False	True	Q9Y276_0_V
Q14721	KCNB1	462	I	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I463V	False	False	False	False	False	Q14721_462_V
O00555	CACNA1A	1836	E	D	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E1837D	False	False	False	False	False	O00555_1836_D
P12883	MYH7	774	E	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E775K	False	False	False	False	False	P12883_774_K
Q14315	FLNC	2067	N	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	N2068S	False	False	False	False	False	Q14315_2067_S
P15924	DSP	1936	R	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1937K	False	False	False	False	False	P15924_1936_K
P36776	LONP1	831	N	S	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	N832S	False	False	False	False	False	P36776_831_S
P12111	COL6A3	898	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I899V	False	False	False	False	False	P12111_898_V
P35498	SCN1A	1727	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1728E	False	False	False	False	False	P35498_1727_E
Q9NZV8	KCND2	304	R	C	1	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	R305C	False	True	False	True	False	Q9NZV8_304_C
P68133	ACTA1	349	S	L	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	S350L	False	False	False	False	False	P68133_349_L
P68133	ACTA1	281	N	K	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N282K	False	False	False	False	False	P68133_281_K
P68133	ACTA1	56	G	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G57R	False	False	False	False	False	P68133_56_R
Q8TAB3	PCDH19	403	T	I	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	T404I	False	False	False	False	False	Q8TAB3_403_I
Q13501	SQSTM1	410	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.031818181818181815	Sequestosome-1 (EBI3-associated protein of 60 kDa)	G411S	False	False	False	True	False	Q13501_410_S
P23378	GLDC	535	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R536Q	False	False	False	False	False	P23378_535_Q
P23378	GLDC	759	H	L	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H760L	False	False	False	False	False	P23378_759_L
P20929	NEB	1804	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I1805V	False	False	False	False	False	P20929_1804_V
P20929	NEB	7979	K	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7980N	False	False	False	False	False	P20929_7979_N
Q13813	SPTAN1	856	A	V	1	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A857V	False	False	False	False	False	Q13813_856_V
P55072	VCP	94	R	H	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R95H	False	False	False	False	False	P55072_94_H
P36776	LONP1	180	S	N	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	S181N	False	False	False	False	False	P36776_180_N
P23378	GLDC	303	P	Q	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P304Q	False	False	False	False	False	P23378_303_Q
P20929	NEB	6967	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K6968E	False	False	False	False	False	P20929_6967_E
P36776	LONP1	595	G	S	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	G596S	False	False	False	False	False	P36776_595_S
O75899	GABBR2	109	N	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	N110S	False	False	False	False	False	O75899_109_S
Q9Y276	BCS1L	234	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	G235R	False	False	False	False	False	Q9Y276_234_R
P12109	COL6A1	151	Y	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	Y152H	False	False	False	False	False	P12109_151_H
P48728	AMT	221	R	S	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R222S	False	False	False	False	False	P48728_221_S
O43526	KCNQ2	559	R	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R560P	False	False	False	False	False	O43526_559_P
Q99250	SCN2A	1622	T	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T1623N	False	False	False	False	False	Q99250_1622_N
Q99715	COL12A1	66	T	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T67S	False	False	False	False	False	Q99715_66_S
P35498	SCN1A	1375	C	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1376Y	False	False	True	True	False	P35498_1375_Y
P35498	SCN1A	1593	S	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1594P	False	False	False	False	False	P35498_1593_P
Q14721	KCNB1	209	T	A	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T210A	False	False	False	False	False	Q14721_209_A
O43526	KCNQ2	277	I	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I278F	False	False	False	False	False	O43526_277_F
Q14315	FLNC	2271	S	R	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	S2272R	False	False	False	False	False	Q14315_2271_R
P12111	COL6A3	253	G	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G254R	False	False	False	False	False	P12111_253_R
P12110	COL6A2	267	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020608439646712464	Collagen alpha-2(VI) chain	G268S	False	False	False	False	False	P12110_267_S
Q5T160	RARS2	332	R	G	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	R333G	False	False	False	False	False	Q5T160_332_G
Q9UQD0	SCN8A	1461	V	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1462I	False	False	False	False	False	Q9UQD0_1461_I
O43526	KCNQ2	226	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A227V	False	False	False	False	False	O43526_226_V
P12109	COL6A1	532	A	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A533T	False	False	False	False	False	P12109_532_T
O76039	CDKL5	192	D	A	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	D193A	False	False	False	False	False	O76039_192_A
Q05639	EEF1A2	434	V	A	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	V435A	False	False	False	False	False	Q05639_434_A
P12110	COL6A2	430	T	I	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	T431I	False	False	False	False	False	P12110_430_I
Q9UQD0	SCN8A	275	N	K	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N276K	False	False	False	False	False	Q9UQD0_275_K
Q99250	SCN2A	382	Q	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q383L	False	False	False	False	False	Q99250_382_L
Q9UQD0	SCN8A	400	Y	H	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Y401H	False	False	False	False	False	Q9UQD0_400_H
Q00839	HNRNPU	745	S	I	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	S746I	False	False	False	False	False	Q00839_745_I
Q99643	SDHC	6	R	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	R7K	True	False	False	False	True	Q99643_6_K
P20929	NEB	2707	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M2708V	False	False	False	False	False	P20929_2707_V
P17661	DES	376	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.002127659574468085	Desmin	L377P	False	False	False	False	False	P17661_376_P
P35498	SCN1A	1711	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1712K	False	False	False	False	False	P35498_1711_K
Q05639	EEF1A2	315	S	L	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	S316L	False	False	False	False	False	Q05639_315_L
P12111	COL6A3	1453	H	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	H1454R	False	False	False	False	False	P12111_1453_R
O75899	GABBR2	608	L	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	L609V	False	False	False	False	False	O75899_608_V
Q99250	SCN2A	1628	R	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1629G	False	False	False	False	False	Q99250_1628_G
Q14721	KCNB1	694	L	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L695I	False	False	False	False	False	Q14721_694_I
P0DJ07	PET100	0	M	L	1	ClinVar	criteria provided, single submitter	0.0	Protein PET100 homolog, mitochondrial	M1L	True	False	False	False	True	P0DJ07_0_L
P05166	PCCB	204	V	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	V205D	False	False	False	False	False	P05166_204_D
Q13224	GRIN2B	542	G	E	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G543E	False	False	False	False	False	Q13224_542_E
Q9NZC7	WWOX	178	A	P	0	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	A179P	False	False	False	False	False	Q9NZC7_178_P
P12109	COL6A1	982	I	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	I983V	False	False	False	False	False	P12109_982_V
P20929	NEB	6143	H	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H6144L	False	False	False	False	False	P20929_6143_L
P15924	DSP	1640	D	G	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	D1641G	False	False	False	False	False	P15924_1640_G
P36776	LONP1	492	G	S	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	G493S	False	False	False	False	False	P36776_492_S
P12883	MYH7	670	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R671P	False	False	False	False	False	P12883_670_P
P20929	NEB	31	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y32C	True	True	False	True	True	P20929_31_C
Q8TAB3	PCDH19	211	D	E	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D212E	False	False	False	False	False	Q8TAB3_211_E
Q9NP73	ALG13	590	K	R	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	K591R	False	False	False	False	False	Q9NP73_590_R
Q5T481	RBM20	325	S	L	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S326L	False	False	False	False	False	Q5T481_325_L
Q99250	SCN2A	1356	N	Y	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N1357Y	False	False	False	False	False	Q99250_1356_Y
Q05193	DNM1	408	F	S	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	F409S	False	False	False	False	False	Q05193_408_S
P39210	MPV17	72	L	M	0	ClinVar	criteria provided, single submitter	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	L73M	False	False	False	False	False	P39210_72_M
Q99715	COL12A1	868	V	M	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V869M	False	False	False	False	False	Q99715_868_M
P21912	SDHB	188	C	W	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C189W	False	False	True	True	False	P21912_188_W
P15924	DSP	432	R	H	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R433H	False	False	False	False	False	P15924_432_H
P12109	COL6A1	512	P	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P513S	False	False	False	False	False	P12109_512_S
O60741	HCN1	829	G	A	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G830A	False	False	False	False	False	O60741_829_A
O00555	CACNA1A	2150	H	Y	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	H2151Y	False	False	False	False	False	O00555_2150_Y
O75899	GABBR2	921	T	I	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T922I	False	False	False	False	False	O75899_921_I
P12111	COL6A3	3081	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P3082L	False	False	False	False	False	P12111_3081_L
P12111	COL6A3	532	R	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R533H	False	False	False	False	False	P12111_532_H
P12883	MYH7	1804	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1805P	False	False	False	False	False	P12883_1804_P
Q96QS3	ARX	538	A	T	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	A539T	False	False	False	False	False	Q96QS3_538_T
Q96QS3	ARX	378	R	S	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R379S	False	False	False	False	False	Q96QS3_378_S
P20929	NEB	1445	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G1446D	False	False	False	False	False	P20929_1445_D
Q13224	GRIN2B	803	E	K	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	E804K	False	False	False	False	False	Q13224_803_K
P45379	TNNT2	94	V	M	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	V95M	False	False	False	False	False	P45379_94_M
P12109	COL6A1	590	P	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P591L	False	False	False	False	False	P12109_590_L
P09493	TPM1	97	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E98K	False	False	False	False	False	P09493_97_K
P05165	PCCA	398	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	R399Q	False	False	False	False	False	P05165_398_Q
P23378	GLDC	732	A	T	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A733T	False	False	False	False	False	P23378_732_T
Q9ULP9	TBC1D24	235	G	S	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	G236S	False	False	False	True	False	Q9ULP9_235_S
Q9NZV8	KCND2	404	I	M	1	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	I405M	False	False	False	False	False	Q9NZV8_404_M
P36776	LONP1	226	P	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	P227L	False	False	False	False	False	P36776_226_L
P12109	COL6A1	638	V	I	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V639I	False	False	False	False	False	P12109_638_I
P35498	SCN1A	524	S	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S525F	False	False	False	False	False	P35498_524_F
Q15878	CACNA1E	918	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R919W	False	False	False	False	False	Q15878_918_W
P12109	COL6A1	254	A	P	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A255P	False	False	False	False	False	P12109_254_P
P06753	TPM3	90	R	G	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R91G	False	False	False	False	False	P06753_90_G
Q14315	FLNC	2327	V	M	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V2328M	False	False	False	False	False	Q14315_2327_M
P12109	COL6A1	782	R	W	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R783W	False	False	False	False	False	P12109_782_W
Q00839	HNRNPU	765	S	A	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	S766A	False	False	False	False	False	Q00839_765_A
P12109	COL6A1	443	D	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D444N	False	False	False	False	False	P12109_443_N
Q8TAB3	PCDH19	322	P	S	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P323S	False	False	False	False	False	Q8TAB3_322_S
O76039	CDKL5	769	Q	H	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Q770H	False	False	False	False	False	O76039_769_H
P36776	LONP1	481	R	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R482Q	False	False	False	False	False	P36776_481_Q
P36776	LONP1	361	A	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A362V	False	False	False	False	False	P36776_361_V
Q99715	COL12A1	1820	I	T	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	I1821T	False	False	False	False	False	Q99715_1820_T
P20929	NEB	5876	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D5877N	False	False	False	False	False	P20929_5876_N
Q99715	COL12A1	753	R	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R754Q	False	False	False	False	False	Q99715_753_Q
P12883	MYH7	1349	E	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1350K	False	False	False	False	False	P12883_1349_K
P12110	COL6A2	27	P	L	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	P28L	True	False	False	False	True	P12110_27_L
O00555	CACNA1A	1011	T	M	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T1012M	False	False	False	False	False	O00555_1011_M
O43526	KCNQ2	208	I	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I209S	False	False	False	False	False	O43526_208_S
O95363	FARS2	418	R	L	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	R419L	False	False	False	False	False	O95363_418_L
P20929	NEB	979	N	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N980S	False	False	False	False	False	P20929_979_S
P20929	NEB	7622	Y	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y7623S	False	False	False	False	False	P20929_7622_S
P36776	LONP1	926	I	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	I927V	False	False	False	False	False	P36776_926_V
P12111	COL6A3	1343	S	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S1344L	False	False	False	False	False	P12111_1343_L
P20929	NEB	339	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G340D	False	False	False	False	False	P20929_339_D
C9JR72	KBTBD13	145	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	R146S	False	False	False	True	False	C9JR72_145_S
Q99715	COL12A1	75	T	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T76I	False	False	False	False	False	Q99715_75_I
Q9UQD0	SCN8A	141	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I142V	False	False	False	False	False	Q9UQD0_141_V
O60662	KLHL41	222	R	C	1	ClinVar	criteria provided, single submitter	0.0231023102310231	Kelch-like protein 41 (Kel-like protein 23) (Kelch	R223C	False	True	False	True	False	O60662_222_C
O00142	TK2	116	M	L	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	M117L	False	False	False	False	False	O00142_116_L
P61764	STXBP1	285	D	N	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	D286N	False	False	False	False	False	P61764_285_N
P05166	PCCB	210	T	R	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	T211R	False	False	False	False	False	P05166_210_R
Q14721	KCNB1	755	I	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I756T	False	False	False	False	False	Q14721_755_T
O76039	CDKL5	276	L	S	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L277S	False	False	False	False	False	O76039_276_S
Q99715	COL12A1	1932	M	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	M1933I	False	False	False	False	False	Q99715_1932_I
Q96D31	ORAI1	250	I	Y	1	ClinVar	criteria provided, single submitter	0.009966777408637873	Calcium release-activated calcium channel protein 	I251Y	False	False	False	False	False	Q96D31_250_Y
P15924	DSP	411	Q	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Q412R	False	False	False	False	False	P15924_411_R
P12111	COL6A3	1678	G	R	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G1679R	False	False	False	False	False	P12111_1678_R
Q15526	SURF1	179	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	G180R	False	False	False	False	False	Q15526_179_R
P08243	ASNS	339	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017825311942959002	Asparagine synthetase [glutamine-hydrolyzing] (EC 	R340C	False	True	False	True	False	P08243_339_C
P12111	COL6A3	1329	S	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S1330T	False	False	False	False	False	P12111_1329_T
P15924	DSP	108	E	A	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E109A	False	False	False	False	False	P15924_108_A
Q9NYK5	MRPL39	298	G	V	1	ClinVar	criteria provided, single submitter	0.026627218934911243	Large ribosomal subunit protein mL39 (39S ribosoma	G299V	False	False	False	False	False	Q9NYK5_298_V
P12883	MYH7	1759	T	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T1760R	False	False	False	False	False	P12883_1759_R
O43526	KCNQ2	189	N	I	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	N190I	False	False	False	False	False	O43526_189_I
O95140	MFN2	221	V	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	V222L	False	False	False	False	False	O95140_221_L
P13637	ATP1A3	895	W	R	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	W896R	False	False	False	False	False	P13637_895_R
Q99250	SCN2A	427	Y	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Y428F	False	False	False	False	False	Q99250_427_F
Q8NI60	COQ8A	8	I	V	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	I9V	True	False	False	False	True	Q8NI60_8_V
O75899	GABBR2	17	P	Q	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	P18Q	True	False	False	False	True	O75899_17_Q
Q96RP9	GFM1	709	K	R	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	K710R	False	False	False	False	False	Q96RP9_709_R
P61764	STXBP1	400	T	I	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	T401I	False	False	False	False	False	P61764_400_I
Q15878	CACNA1E	802	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	P803L	False	False	False	False	False	Q15878_802_L
Q00577	PURA	22	H	R	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	H23R	True	False	False	False	True	Q00577_22_R
O75439	PMPCB	311	C	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.026584867075664622	Mitochondrial-processing peptidase subunit beta (E	C312Y	False	False	True	True	False	O75439_311_Y
P16389	KCNA2	21	T	S	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	T22S	True	False	False	False	True	P16389_21_S
C9JR72	KBTBD13	436	Q	E	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	Q437E	False	False	False	True	False	C9JR72_436_E
Q14721	KCNB1	749	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A750T	False	False	False	False	False	Q14721_749_T
Q5T481	RBM20	234	S	I	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	S235I	False	False	False	False	False	Q5T481_234_I
O60741	HCN1	768	K	R	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	K769R	False	False	False	False	False	O60741_768_R
Q00839	HNRNPU	439	A	G	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A440G	False	False	False	False	False	Q00839_439_G
Q15878	CACNA1E	1120	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R1121C	False	True	False	True	False	Q15878_1120_C
Q14315	FLNC	382	P	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P383A	False	False	False	False	False	Q14315_382_A
Q8NCM2	KCNH5	641	K	N	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	K642N	False	False	False	False	False	Q8NCM2_641_N
Q8NCM2	KCNH5	747	T	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	T748S	False	False	False	False	False	Q8NCM2_747_S
P08559	PDHA1	327	N	S	0	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	N328S	False	False	False	True	False	P08559_327_S
Q00577	PURA	223	L	F	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	L224F	False	False	False	False	False	Q00577_223_F
P61764	STXBP1	121	R	Q	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R122Q	False	False	False	False	False	P61764_121_Q
Q15878	CACNA1E	753	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	H754Y	False	False	False	False	False	Q15878_753_Y
Q13224	GRIN2B	1358	A	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1359S	False	False	False	False	False	Q13224_1358_S
Q8NCM2	KCNH5	929	A	D	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	A930D	False	False	False	False	False	Q8NCM2_929_D
P49821	NDUFV1	51	R	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R52S	False	False	False	False	False	P49821_51_S
Q9UKX2	MYH2	416	G	A	0	ClinVar	criteria provided, single submitter	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	G417A	False	False	False	False	False	Q9UKX2_416_A
Q15878	CACNA1E	2176	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R2177Q	False	False	False	False	False	Q15878_2176_Q
Q00839	HNRNPU	168	Q	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	Q169R	False	False	False	False	False	Q00839_168_R
P09471	GNAO1	142	R	W	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	R143W	False	False	False	False	False	P09471_142_W
Q86SX6	GLRX5	4	L	P	0	ClinVar	criteria provided, single submitter	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	L5P	True	False	False	False	True	Q86SX6_4_P
P35609	ACTN2	477	N	I	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	N478I	False	False	False	False	False	P35609_477_I
Q00577	PURA	95	N	S	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	N96S	False	False	False	False	False	Q00577_95_S
O95140	MFN2	16	N	D	0	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	N17D	True	False	False	False	True	O95140_16_D
Q8IWE5	PLEKHM2	129	V	I	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	V130I	False	False	False	False	False	Q8IWE5_129_I
Q00839	HNRNPU	52	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	M53V	False	False	False	False	False	Q00839_52_V
P36776	LONP1	89	A	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A90P	False	False	False	False	False	P36776_89_P
Q13224	GRIN2B	1100	E	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	E1101V	False	False	False	False	False	Q13224_1100_V
P49792	RANBP2	598	I	M	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	I599M	False	False	False	False	False	P49792_598_M
Q8NCM2	KCNH5	457	L	F	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	L458F	False	False	False	False	False	Q8NCM2_457_F
Q05193	DNM1	101	E	K	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	E102K	False	False	False	False	False	Q05193_101_K
O75899	GABBR2	572	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A573T	False	False	False	False	False	O75899_572_T
P12074	COX6A1	23	M	V	0	ClinVar	criteria provided, single submitter	0.0	Cytochrome c oxidase subunit 6A1, mitochondrial (C	M24V	True	False	False	False	True	P12074_23_V
P49792	RANBP2	2789	F	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	F2790L	False	False	False	False	False	P49792_2789_L
P08559	PDHA1	46	E	K	0	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E47K	True	False	False	True	True	P08559_46_K
Q5JTZ9	AARS2	805	R	W	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R806W	False	False	False	False	False	Q5JTZ9_805_W
C9JR72	KBTBD13	94	R	P	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	R95P	False	False	False	True	False	C9JR72_94_P
O94989	ARHGEF15	596	R	H	0	ClinVar	criteria provided, single submitter	0.020214030915576695	Rho guanine nucleotide exchange factor 15 (Ephexin	R597H	False	False	False	False	False	O94989_596_H
P02462	COL4A1	1237	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	R1238H	False	False	False	False	False	P02462_1237_H
Q8NCM2	KCNH5	70	E	G	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	E71G	False	False	False	False	False	Q8NCM2_70_G
P57059	SIK1	293	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	A294T	False	False	False	False	False	P57059_293_T
Q9NP73	ALG13	874	S	T	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S875T	False	False	False	False	False	Q9NP73_874_T
Q8NCM2	KCNH5	787	G	S	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	G788S	False	False	False	False	False	Q8NCM2_787_S
Q8NCM2	KCNH5	188	S	L	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	S189L	False	False	False	False	False	Q8NCM2_188_L
P51608	MECP2	351	K	R	0	ClinVar	criteria provided, single submitter	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	K352R	False	False	False	False	False	P51608_351_R
P23378	GLDC	311	I	V	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	I312V	False	False	False	False	False	P23378_311_V
Q96RP9	GFM1	329	N	D	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	N330D	False	False	False	False	False	Q96RP9_329_D
Q05639	EEF1A2	446	G	S	0	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	G447S	False	False	False	False	False	Q05639_446_S
Q14721	KCNB1	838	P	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P839S	False	False	False	False	False	Q14721_838_S
O60741	HCN1	89	Q	K	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	Q90K	False	False	False	False	False	O60741_89_K
P42704	LRPPRC	111	T	P	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	T112P	False	False	False	False	False	P42704_111_P
Q00839	HNRNPU	734	N	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N735S	False	False	False	False	False	Q00839_734_S
Q13496	MTM1	236	T	M	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	T237M	False	False	False	False	False	Q13496_236_M
Q6PRD1	GPR179	997	A	T	0	ClinVar	criteria provided, single submitter	0.025348542458808618	Probable G-protein coupled receptor 179 (Probable 	A998T	False	False	False	False	False	Q6PRD1_997_T
O75899	GABBR2	445	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A446T	False	False	False	False	False	O75899_445_T
O60741	HCN1	676	N	S	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	N677S	False	False	False	False	False	O60741_676_S
Q6PJG6	BRAT1	55	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	V56L	False	False	False	True	False	Q6PJG6_55_L
O76039	CDKL5	355	A	P	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A356P	False	False	False	False	False	O76039_355_P
Q00839	HNRNPU	622	V	L	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	V623L	False	False	False	False	False	Q00839_622_L
Q05193	DNM1	374	V	I	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	V375I	False	False	False	False	False	Q05193_374_I
O60741	HCN1	750	P	R	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P751R	False	False	False	False	False	O60741_750_R
O60741	HCN1	878	P	S	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P879S	False	False	False	False	False	O60741_878_S
C9JR72	KBTBD13	161	T	M	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	T162M	False	False	False	True	False	C9JR72_161_M
Q15878	CACNA1E	993	G	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	G994R	False	False	False	False	False	Q15878_993_R
C9JR72	KBTBD13	221	K	N	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	K222N	False	False	False	True	False	C9JR72_221_N
Q96QS3	ARX	41	R	P	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R42P	True	False	False	False	True	Q96QS3_41_P
Q05193	DNM1	475	M	T	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	M476T	False	False	False	False	False	Q05193_475_T
Q9NP73	ALG13	843	M	T	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	M844T	False	False	False	False	False	Q9NP73_843_T
Q8NCM2	KCNH5	788	G	V	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	G789V	False	False	False	False	False	Q8NCM2_788_V
Q13224	GRIN2B	1240	R	Q	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R1241Q	False	False	False	False	False	Q13224_1240_Q
Q8NCM2	KCNH5	225	F	V	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	F226V	False	False	False	False	False	Q8NCM2_225_V
P36776	LONP1	77	A	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A78V	False	False	False	False	False	P36776_77_V
Q00839	HNRNPU	445	P	A	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P446A	False	False	False	False	False	Q00839_445_A
C9JR72	KBTBD13	353	Y	C	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	Y354C	False	True	False	True	False	C9JR72_353_C
O75899	GABBR2	590	I	N	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I591N	False	False	False	False	False	O75899_590_N
Q3ZCQ8	TIMM50	316	R	Q	0	ClinVar	criteria provided, single submitter	0.0113314447592068	Mitochondrial import inner membrane translocase su	R317Q	False	False	False	False	False	Q3ZCQ8_316_Q
P23378	GLDC	511	V	L	0	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	V512L	False	False	False	False	False	P23378_511_L
Q8NA72	POC5	112	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01217391304347826	Centrosomal protein POC5 (Protein of centriole 5) 	P113S	False	False	False	False	False	Q8NA72_112_S
Q9H845	ACAD9	336	S	G	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	S337G	False	False	False	False	False	Q9H845_336_G
C9JR72	KBTBD13	297	V	M	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	V298M	False	False	False	True	False	C9JR72_297_M
P36776	LONP1	218	Q	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	Q219L	False	False	False	False	False	P36776_218_L
Q15878	CACNA1E	1367	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	V1368I	False	False	False	False	False	Q15878_1367_I
Q14721	KCNB1	822	K	R	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K823R	False	False	False	False	False	Q14721_822_R
Q14721	KCNB1	750	G	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G751V	False	False	False	False	False	Q14721_750_V
O75899	GABBR2	858	D	H	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	D859H	False	False	False	False	False	O75899_858_H
Q96QS3	ARX	59	P	R	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	P60R	False	False	False	False	False	Q96QS3_59_R
Q05193	DNM1	458	I	V	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	I459V	False	False	False	False	False	Q05193_458_V
Q05193	DNM1	822	P	A	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	P823A	False	False	False	False	False	Q05193_822_A
O76039	CDKL5	722	P	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P723S	False	False	False	False	False	O76039_722_S
C9JR72	KBTBD13	97	E	V	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	E98V	False	False	False	True	False	C9JR72_97_V
Q9NPL8	TIMMDC1	75	N	D	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010526315789473684	Complex I assembly factor TIMMDC1, mitochondrial (	N76D	False	False	False	False	False	Q9NPL8_75_D
Q9NPL8	TIMMDC1	216	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010526315789473684	Complex I assembly factor TIMMDC1, mitochondrial (	V217I	False	False	False	False	False	Q9NPL8_216_I
Q5ST30	VARS2	901	R	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R902C	False	True	False	True	False	Q5ST30_901_C
Q14721	KCNB1	574	R	G	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R575G	False	False	False	False	False	Q14721_574_G
Q8NI60	COQ8A	86	A	T	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	A87T	False	False	False	False	False	Q8NI60_86_T
Q13496	MTM1	398	S	N	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	S399N	False	False	False	False	False	Q13496_398_N
Q9NPL8	TIMMDC1	77	C	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.010526315789473684	Complex I assembly factor TIMMDC1, mitochondrial (	C78R	False	False	True	True	False	Q9NPL8_77_R
Q15878	CACNA1E	921	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R922Q	False	False	False	False	False	Q15878_921_Q
O60313	OPA1	94	T	M	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	T95M	False	False	False	False	False	O60313_94_M
Q15878	CACNA1E	1688	N	K	0	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	N1689K	False	False	False	False	False	Q15878_1688_K
Q8NCM2	KCNH5	778	R	C	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R779C	False	True	False	True	False	Q8NCM2_778_C
P35498	SCN1A	850	N	D	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N851D	False	False	False	False	False	P35498_850_D
Q13224	GRIN2B	1382	T	M	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T1383M	False	False	False	False	False	Q13224_1382_M
Q00839	HNRNPU	806	Q	H	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	Q807H	False	False	False	False	False	Q00839_806_H
Q00839	HNRNPU	640	T	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	T641S	False	False	False	False	False	Q00839_640_S
O76039	CDKL5	526	P	L	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P527L	False	False	False	False	False	O76039_526_L
P61764	STXBP1	528	G	S	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G529S	False	False	False	False	False	P61764_528_S
O75899	GABBR2	684	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A685T	False	False	False	False	False	O75899_684_T
Q8TAB3	PCDH19	415	H	N	0	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	H416N	False	False	False	False	False	Q8TAB3_415_N
P15924	DSP	2098	P	T	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	P2099T	False	False	False	False	False	P15924_2098_T
Q8NCM2	KCNH5	600	D	G	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	D601G	False	False	False	False	False	Q8NCM2_600_G
Q5T160	RARS2	547	V	L	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	V548L	False	False	False	False	False	Q5T160_547_L
Q05193	DNM1	487	T	A	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	T488A	False	False	False	False	False	Q05193_487_A
P15924	DSP	2098	P	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	P2099L	False	False	False	False	False	P15924_2098_L
Q13224	GRIN2B	1330	M	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M1331L	False	False	False	False	False	Q13224_1330_L
P43004	SLC1A2	30	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	R31Q	True	False	False	False	True	P43004_30_Q
Q13496	MTM1	559	L	F	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L560F	False	False	False	False	False	Q13496_559_F
P36776	LONP1	493	M	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	M494L	False	False	False	False	False	P36776_493_L
Q14721	KCNB1	30	R	P	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R31P	True	False	False	False	True	Q14721_30_P
Q9Y3A0	COQ4	255	A	V	0	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	A256V	False	False	False	False	False	Q9Y3A0_255_V
Q8NCM2	KCNH5	453	M	I	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	M454I	False	False	False	False	False	Q8NCM2_453_I
A2RRP1	NBAS	1865	V	I	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02446225221425559	NBAS subunit of NRZ tethering complex (Neuroblasto	V1866I	False	False	False	False	False	A2RRP1_1865_I
Q8NCM2	KCNH5	562	A	V	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	A563V	False	False	False	False	False	Q8NCM2_562_V
Q13224	GRIN2B	210	D	N	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D211N	False	False	False	False	False	Q13224_210_N
Q13813	SPTAN1	652	M	L	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	M653L	False	False	False	False	False	Q13813_652_L
C9JR72	KBTBD13	167	G	S	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	G168S	False	False	False	True	False	C9JR72_167_S
Q9UJS0	SLC25A13	634	D	Y	0	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	D635Y	False	False	False	False	False	Q9UJS0_634_Y
O60741	HCN1	775	N	D	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	N776D	False	False	False	False	False	O60741_775_D
Q00839	HNRNPU	199	P	A	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P200A	False	False	False	False	False	Q00839_199_A
Q9NP73	ALG13	215	S	P	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S216P	False	False	False	False	False	Q9NP73_215_P
O75899	GABBR2	442	N	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	N443S	False	False	False	False	False	O75899_442_S
O75899	GABBR2	175	V	I	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	V176I	False	False	False	False	False	O75899_175_I
Q14721	KCNB1	33	R	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R34H	True	False	False	False	True	Q14721_33_H
O75112	LDB3	347	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	A348T	False	False	False	False	False	O75112_347_T
O75899	GABBR2	643	L	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	L644V	False	False	False	False	False	O75899_643_V
Q15878	CACNA1E	418	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R419Q	False	False	False	False	False	Q15878_418_Q
Q96N67	DOCK7	1422	I	M	0	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	I1423M	False	False	False	False	False	Q96N67_1422_M
Q8NCM2	KCNH5	747	T	A	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	T748A	False	False	False	False	False	Q8NCM2_747_A
Q9NP73	ALG13	26	Q	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Q27E	True	False	False	False	True	Q9NP73_26_E
Q9NZV8	KCND2	40	A	V	0	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	A41V	True	False	False	False	True	Q9NZV8_40_V
Q12860	CNTN1	515	I	V	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	I516V	False	False	False	False	False	Q12860_515_V
Q96QS3	ARX	120	P	T	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	P121T	False	False	False	False	False	Q96QS3_120_T
Q8NCM2	KCNH5	883	P	L	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	P884L	False	False	False	False	False	Q8NCM2_883_L
Q05193	DNM1	628	R	H	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R629H	False	False	False	False	False	Q05193_628_H
P49792	RANBP2	547	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	V548L	False	False	False	False	False	P49792_547_L
P12109	COL6A1	867	A	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A868T	False	False	False	False	False	P12109_867_T
C9JR72	KBTBD13	188	T	M	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	T189M	False	False	False	True	False	C9JR72_188_M
Q00839	HNRNPU	716	G	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G717R	False	False	False	False	False	Q00839_716_R
Q9NP73	ALG13	170	K	E	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	K171E	False	False	False	False	False	Q9NP73_170_E
Q15878	CACNA1E	1951	M	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	M1952T	False	False	False	False	False	Q15878_1951_T
Q15878	CACNA1E	1041	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	M1042V	False	False	False	False	False	Q15878_1041_V
O14647	CHD2	1345	V	L	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	V1346L	False	False	False	False	False	O14647_1345_L
Q8NCM2	KCNH5	354	V	M	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	V355M	False	False	False	False	False	Q8NCM2_354_M
P61764	STXBP1	17	V	M	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V18M	True	False	False	False	True	P61764_17_M
Q9Y3Q4	HCN4	481	G	E	1	ClinVar	criteria provided, single submitter	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	G482E	False	False	False	False	False	Q9Y3Q4_481_E
Q9Y3Q4	HCN4	484	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	A485V	False	False	False	False	False	Q9Y3Q4_484_V
P12883	MYH7	349	Y	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Y350N	False	False	False	False	False	P12883_349_N
P04049	RAF1	268	T	I	1	ClinVar	criteria provided, single submitter	0.021604938271604937	RAF proto-oncogene serine/threonine-protein kinase	T269I	False	False	False	False	False	P04049_268_I
Q96RR1	TWNK	447	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	N448D	False	False	False	False	False	Q96RR1_447_D
Q9UHP9	SMPX	26	P	A	1	ClinVar	no assertion criteria provided	0.011363636363636364	Small muscular protein (Stretch-responsive skeleta	P27A	True	False	False	False	True	Q9UHP9_26_A
Q9UHP9	SMPX	12	A	V	1	ClinVar	no assertion criteria provided	0.011363636363636364	Small muscular protein (Stretch-responsive skeleta	A13V	True	False	False	False	True	Q9UHP9_12_V
Q9UHP9	SMPX	6	P	T	1	ClinVar	no assertion criteria provided	0.011363636363636364	Small muscular protein (Stretch-responsive skeleta	P7T	True	False	False	False	True	Q9UHP9_6_T
P61981	YWHAG	240	D	G	0	ClinVar	criteria provided, single submitter	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	D241G	False	False	False	False	False	P61981_240_G
O15399	GRIN2D	66	A	T	0	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	A67T	False	False	False	False	False	O15399_66_T
Q9Y4W6	AFG3L2	459	D	N	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	D460N	False	False	False	False	False	Q9Y4W6_459_N
O95831	AIFM1	475	Y	H	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	Y476H	False	False	False	False	False	O95831_475_H
Q14721	KCNB1	394	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G395E	False	False	False	False	False	Q14721_394_E
Q9UM47	NOTCH3	558	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C559Y	False	False	True	True	False	Q9UM47_558_Y
Q6UVM3	KCNT2	365	K	E	1	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	K366E	False	False	False	False	False	Q6UVM3_365_E
O00555	CACNA1A	1506	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1507T	False	False	False	False	False	O00555_1506_T
O00555	CACNA1A	1343	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	L1344P	False	False	False	False	False	O00555_1343_P
O00555	CACNA1A	1805	V	A	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1806A	False	False	False	False	False	O00555_1805_A
O00555	CACNA1A	1315	D	E	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1316E	False	False	False	False	False	O00555_1315_E
O00555	CACNA1A	712	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V713M	False	False	False	False	False	O00555_712_M
O00555	CACNA1A	699	G	E	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G700E	False	False	False	False	False	O00555_699_E
O00555	CACNA1A	616	L	S	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	L617S	False	False	False	False	False	O00555_616_S
O00555	CACNA1A	217	S	P	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S218P	False	False	False	False	False	O00555_217_P
O00555	CACNA1A	1706	I	T	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1707T	False	False	False	False	False	O00555_1706_T
Q9C0D0	PHACTR1	465	L	M	1	ClinVar	criteria provided, single submitter	0.013793103448275862	Phosphatase and actin regulator 1	L466M	False	False	False	False	False	Q9C0D0_465_M
Q99715	COL12A1	1921	G	E	1	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G1922E	False	False	False	False	False	Q99715_1921_E
P30049	ATP5F1D	37	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	ATP synthase F(1) complex subunit delta, mitochond	M38V	True	False	False	False	True	P30049_37_V
P30049	ATP5F1D	56	Q	R	0	ClinVar	criteria provided, single submitter	0.0	ATP synthase F(1) complex subunit delta, mitochond	Q57R	False	False	False	False	False	P30049_56_R
O43526	KCNQ2	133	I	N	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	I134N	False	False	False	False	False	O43526_133_N
O43526	KCNQ2	241	C	Y	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	C242Y	False	False	True	True	False	O43526_241_Y
P47985	UQCRFS1	5	S	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01824817518248175	Cytochrome b-c1 complex subunit Rieske, mitochondr	S6A	True	False	False	False	True	P47985_5_A
O14647	CHD2	1180	C	F	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	C1181F	False	False	True	True	False	O14647_1180_F
P13533	MYH6	947	E	G	0	ClinVar	criteria provided, single submitter	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	E948G	False	False	False	False	False	P13533_947_G
Q5JTZ9	AARS2	263	V	M	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	V264M	False	False	False	False	False	Q5JTZ9_263_M
P68133	ACTA1	253	N	K	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N254K	False	False	False	False	False	P68133_253_K
P30084	ECHS1	152	Y	N	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	Y153N	False	False	False	False	False	P30084_152_N
P23378	GLDC	813	S	F	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S814F	False	False	False	False	False	P23378_813_F
P09471	GNAO1	204	Q	P	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Q205P	False	False	False	False	False	P09471_204_P
P09471	GNAO1	245	E	V	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	E246V	False	False	False	False	False	P09471_245_V
Q13224	GRIN2B	738	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M739T	False	False	False	False	False	Q13224_738_T
Q14721	KCNB1	434	A	P	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A435P	False	False	False	False	False	Q14721_434_P
Q14721	KCNB1	406	L	P	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L407P	False	False	False	False	False	Q14721_406_P
Q6UVM3	KCNT2	304	C	S	1	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	C305S	False	False	True	True	False	Q6UVM3_304_S
P10589	NR2F1	393	V	G	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	V394G	False	False	False	True	False	P10589_393_G
P11498	PC	405	R	C	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R406C	False	True	False	True	False	P11498_405_C
Q8TAB3	PCDH19	595	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	D596G	False	False	False	False	False	Q8TAB3_595_G
P08559	PDHA1	378	G	V	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G379V	False	False	False	True	False	P08559_378_V
Q9UGM6	WARS2	226	M	T	1	ClinVar	criteria provided, single submitter	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	M227T	False	False	False	False	False	Q9UGM6_226_T
Q9UGM6	WARS2	175	V	F	1	ClinVar	criteria provided, single submitter	0.008333333333333333	Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2	V176F	False	False	False	False	False	Q9UGM6_175_F
Q5JTZ9	AARS2	321	R	C	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R322C	False	True	False	True	False	Q5JTZ9_321_C
P68133	ACTA1	119	K	M	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	K120M	False	False	False	False	False	P68133_119_M
Q9NP73	ALG13	39	Q	H	1	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Q40H	True	False	False	False	True	Q9NP73_39_H
Q15878	CACNA1E	1313	K	Q	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	K1314Q	False	False	False	False	False	Q15878_1313_Q
O76039	CDKL5	206	G	V	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G207V	False	False	False	False	False	O76039_206_V
Q9Y3A0	COQ4	67	D	N	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	D68N	False	False	False	False	False	Q9Y3A0_67_N
P07333	CSF1R	832	T	K	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	T833K	False	False	False	False	False	P07333_832_K
P30084	ECHS1	83	A	T	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A84T	False	False	False	False	False	P30084_83_T
P47869	GABRA2	331	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	A332V	False	False	False	False	False	P47869_331_V
P09471	GNAO1	203	G	R	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G204R	False	False	False	False	False	P09471_203_R
P09471	GNAO1	206	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	S207F	False	False	False	False	False	P09471_206_F
O15399	GRIN2D	665	A	V	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	A666V	False	False	False	False	False	O15399_665_V
Q00839	HNRNPU	37	L	I	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	L38I	True	False	False	False	True	Q00839_37_I
O43526	KCNQ2	212	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R213L	False	False	False	False	False	O43526_212_L
O43526	KCNQ2	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M1I	True	False	False	False	True	O43526_0_I
Q8TAB3	PCDH19	164	T	P	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	T165P	False	False	False	False	False	Q8TAB3_164_P
P0DJ07	PET100	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Protein PET100 homolog, mitochondrial	M1V	True	False	False	False	True	P0DJ07_0_V
Q08209	PPP3CA	253	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	R254S	False	False	False	False	False	Q08209_253_S
Q00577	PURA	170	R	P	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	R171P	False	False	False	False	False	Q00577_170_P
Q5T160	RARS2	140	H	R	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	H141R	False	False	False	False	False	Q5T160_140_R
P35498	SCN1A	1370	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1371D	False	False	False	False	False	P35498_1370_D
P35498	SCN1A	926	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C927R	False	False	True	True	False	P35498_926_R
P11166	SLC2A1;SLC2A1-DT	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	M1V	True	False	False	False	True	P11166_0_V
O00142	TK2	230	P	L	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	P231L	False	False	False	False	False	O00142_230_L
O00142	TK2	137	S	R	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	S138R	False	False	False	False	False	O00142_137_R
P19429	TNNI3	43	S	A	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	S44A	True	False	False	False	True	P19429_43_A
Q9GZZ9	UBA5	0	M	V	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	M1V	True	False	False	False	True	Q9GZZ9_0_V
Q8WWV3	RTN4IP1	166	S	F	1	ClinVar	no assertion criteria provided	0.017676767676767676	NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 	S167F	False	False	False	False	False	Q8WWV3_166_F
Q8WWV3	RTN4IP1	320	G	E	1	ClinVar	no assertion criteria provided	0.017676767676767676	NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 	G321E	False	False	False	False	False	Q8WWV3_320_E
Q99624	SLC38A3	374	T	P	1	ClinVar	no assertion criteria provided	0.015873015873015872	Sodium-coupled neutral amino acid transporter 3 (N	T375P	False	False	False	False	False	Q99624_374_P
P63316	TNNC1	151	E	K	1	ClinVar	no assertion criteria provided	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	E152K	False	False	False	False	False	P63316_151_K
Q96RR1	TWNK	477	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	F478C	False	True	False	True	False	Q96RR1_477_C
Q9UM47	NOTCH3	132	R	L	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R133L	False	False	False	True	False	Q9UM47_132_L
Q9Y223	GNE	149	I	V	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	I150V	False	False	False	False	False	Q9Y223_149_V
P05166	PCCB	398	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	P399R	False	False	False	False	False	P05166_398_R
P21912	SDHB	68	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G69V	False	False	False	True	False	P21912_68_V
A1L188	NDUFAF8	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.06756756756756757	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	M1L	True	False	False	True	True	A1L188_0_L
P55084	HADHB	388	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	N389D	False	False	False	False	False	P55084_388_D
O75899	GABBR2	694	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	S695N	False	False	False	False	False	O75899_694_N
O43526	KCNQ2	217	W	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W218R	False	False	False	False	False	O43526_217_R
P30084	ECHS1	224	C	R	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	C225R	False	False	True	True	False	P30084_224_R
P21817	RYR1	3904	Q	H	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Q3905H	False	False	False	False	False	P21817_3904_H
P11166	SLC2A1	69	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	A70V	False	False	False	False	False	P11166_69_V
Q8NF91	SYNE1	814	I	T	1	ClinVar	no assertion criteria provided	0.013299988632488349	Nesprin-1 (Enaptin) (KASH domain-containing protei	I815T	False	False	False	False	False	Q8NF91_814_T
P13637	ATP1A3	234	F	L	0	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	F235L	False	False	False	False	False	P13637_234_L
Q92736	RYR2	4673	K	E	1	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	K4674E	False	False	False	False	False	Q92736_4673_E
P31644	GABRA5	300	T	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010822510822510822	Gamma-aminobutyric acid receptor subunit alpha-5 (	T301M	False	False	False	False	False	P31644_300_M
Q96PR1	KCNC2	470	V	L	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	V471L	False	False	False	False	False	Q96PR1_470_L
Q96PR1	KCNC2	166	D	Y	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	D167Y	False	False	False	False	False	Q96PR1_166_Y
Q96PR1	KCNC2	124	C	W	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	C125W	False	False	True	True	False	Q96PR1_124_W
Q96PR1	KCNC2	134	E	G	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	E135G	False	False	False	False	False	Q96PR1_134_G
Q96PR1	KCNC2	436	T	A	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	T437A	False	False	False	False	False	Q96PR1_436_A
Q08209	PPP3CA	176	A	G	1	ClinVar	criteria provided, single submitter	0.023032629558541268	Protein phosphatase 3 catalytic subunit alpha (EC 	A177G	False	False	False	False	False	Q08209_176_G
Q13496	MTM1	108	L	P	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	L109P	False	False	False	False	False	Q13496_108_P
Q15878	CACNA1E	1841	I	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	I1842V	False	False	False	False	False	Q15878_1841_V
P08559	PDHA1	357	E	K	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E358K	False	False	False	True	False	P08559_357_K
Q96PR1	KCNC2	404	R	G	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	R405G	False	False	False	False	False	Q96PR1_404_G
Q9UKA2	FBXL4	449	C	W	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	C450W	False	False	True	True	False	Q9UKA2_449_W
O43526	KCNQ2	126	Y	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y127F	False	False	False	False	False	O43526_126_F
Q9H9J2	MRPL44	77	R	Q	1	ClinVar	criteria provided, single submitter	0.018072289156626505	Large ribosomal subunit protein mL44 (EC 3.1.26.-)	R78Q	False	False	False	False	False	Q9H9J2_77_Q
Q9Y3Q4	HCN4	579	E	D	1	ClinVar	no assertion criteria provided	0.00997506234413965	Potassium/sodium hyperpolarization-activated cycli	E580D	False	False	False	False	False	Q9Y3Q4_579_D
Q93050	ATP6V0A1	476	S	P	1	ClinVar	no assertion criteria provided	0.016726403823178016	V-type proton ATPase 116 kDa subunit a 1 (V-ATPase	S477P	False	False	False	False	False	Q93050_476_P
Q93050	ATP6V0A1	543	G	D	1	ClinVar	no assertion criteria provided	0.016726403823178016	V-type proton ATPase 116 kDa subunit a 1 (V-ATPase	G544D	False	False	False	False	False	Q93050_543_D
Q93050	ATP6V0A1	803	R	H	1	ClinVar	no assertion criteria provided	0.016726403823178016	V-type proton ATPase 116 kDa subunit a 1 (V-ATPase	R804H	False	False	False	False	False	Q93050_803_H
P55084	HADHB	354	P	T	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	P355T	False	False	False	False	False	P55084_354_T
Q13045	FLII	1239	R	C	1	ClinVar	criteria provided, single submitter	0.02048857368006304	Protein flightless-1 homolog	R1240C	False	True	False	True	False	Q13045_1239_C
Q9UQD0	SCN8A	323	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	C324Y	False	False	True	True	False	Q9UQD0_323_Y
Q9UI10	EIF2B4	210	G	C	1	ClinVar	criteria provided, single submitter	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	G211C	False	True	False	True	False	Q9UI10_210_C
P45379	TNNT2	99	I	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	I100N	False	False	False	False	False	P45379_99_N
O00555	CACNA1A	623	I	F	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I624F	False	False	False	False	False	O00555_623_F
O95140	MFN2	356	K	E	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	K357E	False	False	False	False	False	O95140_356_E
P06576	ATP5F1B	334	L	P	1	ClinVar	criteria provided, single submitter	0.0	ATP synthase F(1) complex subunit beta, mitochondr	L335P	False	False	False	False	False	P06576_334_P
O43526	KCNQ2	268	W	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W269C	False	True	False	True	False	O43526_268_C
Q05586	GRIN1	640	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01279317697228145	Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glu	M641L	False	False	False	False	False	Q05586_640_L
P13637	ATP1A3	755	R	L	1	ClinVar	no assertion criteria provided	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	R756L	False	False	False	False	False	P13637_755_L
Q15049	MLC1	156	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	A157E	False	False	False	False	False	Q15049_156_E
Q8IV36	HID1	432	R	W	1	ClinVar	no assertion criteria provided	0.013959390862944163	Protein HID1 (Down-regulated in multiple cancers 1	R433W	False	False	False	False	False	Q8IV36_432_W
Q8IV36	HID1	186	G	D	1	ClinVar	no assertion criteria provided	0.013959390862944163	Protein HID1 (Down-regulated in multiple cancers 1	G187D	False	False	False	False	False	Q8IV36_186_D
O14529	CUX2	1233	D	E	0	ClinVar	criteria provided, single submitter	0.006056527590847914	Homeobox protein cut-like 2 (Homeobox protein cux-	D1234E	False	False	False	False	False	O14529_1233_E
Q8TAB3	PCDH19	587	T	P	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	T588P	False	False	False	False	False	Q8TAB3_587_P
O43526	KCNQ2	278	G	D	1	ClinVar	no assertion criteria provided	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G279D	False	False	False	False	False	O43526_278_D
O95831	AIFM1	590	I	M	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	I591M	False	False	False	False	False	O95831_590_M
O95831	AIFM1	568	R	G	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	R569G	False	False	False	False	False	O95831_568_G
Q15878	CACNA1E	701	A	S	1	ClinVar	no assertion criteria provided	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A702S	False	False	False	False	False	Q15878_701_S
Q969Q6	PPP2R3C	416	G	E	1	ClinVar	no assertion criteria provided	0.011037527593818985	Serine/threonine-protein phosphatase 2A regulatory	G417E	False	False	False	False	False	Q969Q6_416_E
Q9Y484	WDR45	35	P	H	1	ClinVar	no assertion criteria provided	0.03888888888888889	WD repeat domain phosphoinositide-interacting prot	P36H	True	False	False	True	True	Q9Y484_35_H
Q99250	SCN2A	1651	A	P	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1652P	False	False	False	False	False	Q99250_1651_P
Q6PI48	DARS2	567	L	F	1	ClinVar	no assertion criteria provided	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	L568F	False	False	False	False	False	Q6PI48_567_F
P49588	AARS1	320	G	R	1	ClinVar	no assertion criteria provided	0.013429752066115703	Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Al	G321R	False	False	False	False	False	P49588_320_R
P13637	ATP1A3	850	Q	P	1	ClinVar	no assertion criteria provided	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	Q851P	False	False	False	False	False	P13637_850_P
P13637	ATP1A3	826	R	W	1	ClinVar	no assertion criteria provided	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	R827W	False	False	False	False	False	P13637_826_W
Q9C0D0	PHACTR1	425	I	M	1	ClinVar	no assertion criteria provided	0.013793103448275862	Phosphatase and actin regulator 1	I426M	False	False	False	False	False	Q9C0D0_425_M
P05166	PCCB	197	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G198D	False	False	False	False	False	P05166_197_D
P19404	NDUFV2	182	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020080321285140562	NADH dehydrogenase [ubiquinone] flavoprotein 2, mi	A183T	False	False	False	False	False	P19404_182_T
O43526	KCNQ2	552	R	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R553G	False	False	False	False	False	O43526_552_G
P49821	NDUFV1	387	G	D	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	G388D	False	False	False	False	False	P49821_387_D
Q9UQ90	SPG7	700	H	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	H701P	False	False	False	False	False	Q9UQ90_700_P
P50570	DNM2	613	D	N	1	ClinVar	reviewed by expert panel	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	D614N	False	False	False	False	False	P50570_613_N
Q14315	FLNC	221	M	T	1	ClinVar	no assertion criteria provided	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	M222T	False	False	False	False	False	Q14315_221_T
O76039	CDKL5	138	E	K	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E139K	False	False	False	False	False	O76039_138_K
Q9UQD0	SCN8A	1466	F	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F1467V	False	False	False	False	False	Q9UQD0_1466_V
Q9UJS0	SLC25A13	491	R	W	1	ClinVar	no assertion criteria provided	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	R492W	False	False	False	False	False	Q9UJS0_491_W
P60880	SNAP25	198	A	E	1	ClinVar	criteria provided, single submitter	0.019417475728155338	Synaptosomal-associated protein 25 (SNAP-25) (Supe	A199E	False	False	False	False	False	P60880_198_E
P35498	SCN1A	1463	V	L	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1464L	False	False	False	False	False	P35498_1463_L
Q5JTZ9	AARS2	579	R	W	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	R580W	False	False	False	False	False	Q5JTZ9_579_W
Q99250	SCN2A	1655	S	P	1	ClinVar	no assertion criteria provided	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	S1656P	False	False	False	False	False	Q99250_1655_P
O15399	GRIN2D	583	A	V	0	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	A584V	False	False	False	False	False	O15399_583_V
O75899	GABBR2	561	V	M	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	V562M	False	False	False	False	False	O75899_561_M
Q13224	GRIN2B	540	S	G	1	ClinVar	no assertion criteria provided	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S541G	False	False	False	False	False	Q13224_540_G
O43526	KCNQ2	307	P	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P308S	False	False	False	False	False	O43526_307_S
Q9UM47	NOTCH3	938	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C939R	False	False	True	True	False	Q9UM47_938_R
O43526	KCNQ2	283	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y284H	False	False	False	False	False	O43526_283_H
P12111	COL6A3	2322	G	S	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G2323S	False	False	False	False	False	P12111_2322_S
Q00577	PURA	71	R	P	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	R72P	False	False	False	False	False	Q00577_71_P
Q9UM47	NOTCH3	987	C	Y	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C988Y	False	False	True	True	False	Q9UM47_987_Y
Q00577	PURA	86	K	E	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	K87E	False	False	False	False	False	Q00577_86_E
Q9UM47	NOTCH3	182	C	S	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C183S	False	False	True	True	False	Q9UM47_182_S
Q9UM47	NOTCH3	1314	C	W	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C1315W	False	False	True	True	False	Q9UM47_1314_W
Q9H845	ACAD9	267	S	F	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	S268F	False	False	False	False	False	Q9H845_267_F
Q9UM47	NOTCH3	232	C	W	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C233W	False	False	True	True	False	Q9UM47_232_W
P21817	RYR1	4865	K	E	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	K4866E	False	False	False	False	False	P21817_4865_E
P09471	GNAO1	250	F	I	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	F251I	False	False	False	False	False	P09471_250_I
O43526	KCNQ2	555	K	Q	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K556Q	False	False	False	False	False	O43526_555_Q
P12883	MYH7	695	N	H	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	N696H	False	False	False	False	False	P12883_695_H
P35498	SCN1A	951	W	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W952L	False	False	False	False	False	P35498_951_L
P12883	MYH7	665	H	Q	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	H666Q	False	False	False	False	False	P12883_665_Q
Q8TAB3	PCDH19	105	M	K	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	M106K	False	False	False	False	False	Q8TAB3_105_K
Q8TAB3	PCDH19	269	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	N270K	False	False	False	False	False	Q8TAB3_269_K
Q8TAB3	PCDH19	198	E	Q	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E199Q	False	False	False	False	False	Q8TAB3_198_Q
Q8TAB3	PCDH19	359	E	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	E360K	False	False	False	False	False	Q8TAB3_359_K
P54098	POLG	762	G	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G763R	False	False	False	False	False	P54098_762_R
P54098	POLG	122	V	G	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	V123G	False	False	False	False	False	P54098_122_G
Q15031	LARS2	635	T	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	T636M	False	False	False	False	False	Q15031_635_M
Q96JX3	SERAC1	555	V	D	1	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	V556D	False	False	False	False	False	Q96JX3_555_D
Q9UL51	HCN2	204	H	Q	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	H205Q	False	False	False	False	False	Q9UL51_204_Q
Q9UL51	HCN2	323	R	H	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	R324H	False	False	False	False	False	Q9UL51_323_H
Q9UL51	HCN2	362	A	V	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	A363V	False	False	False	False	False	Q9UL51_362_V
Q9UL51	HCN2	408	S	L	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	S409L	False	False	False	False	False	Q9UL51_408_L
Q9UL51	HCN2	492	P	L	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	P493L	False	False	False	False	False	Q9UL51_492_L
Q9UL51	HCN2	586	G	D	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	G587D	False	False	False	False	False	Q9UL51_586_D
O75746	SLC25A12	431	A	V	1	ClinVar	no assertion criteria provided	0.01032448377581121	Electrogenic aspartate/glutamate antiporter SLC25A	A432V	False	False	False	False	False	O75746_431_V
Q00577	PURA	41	G	S	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G42S	True	False	False	False	True	Q00577_41_S
O43526	KCNQ2	342	A	T	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A343T	False	False	False	False	False	O43526_342_T
P16389	KCNA2	257	I	N	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	I258N	False	False	False	False	False	P16389_257_N
P09493	TPM1	180	E	Q	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E181Q	False	False	False	False	False	P09493_180_Q
Q00577	PURA	30	G	S	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G31S	True	False	False	False	True	Q00577_30_S
O75899	GABBR2	333	T	I	1	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T334I	False	False	False	False	False	O75899_333_I
C9JR72	KBTBD13	297	V	L	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	V298L	False	False	False	True	False	C9JR72_297_L
O76039	CDKL5	28	K	T	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	K29T	True	False	False	False	True	O76039_28_T
P35498	SCN1A	810	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F811L	False	False	False	False	False	P35498_810_L
O14647	CHD2	823	A	P	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A824P	False	False	False	False	False	O14647_823_P
P35498	SCN1A	411	F	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F412V	False	False	False	False	False	P35498_411_V
P38606	ATP6V1A	362	G	V	1	ClinVar	no assertion criteria provided	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	G363V	False	False	False	False	False	P38606_362_V
P38606	ATP6V1A	355	E	D	1	ClinVar	no assertion criteria provided	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	E356D	False	False	False	False	False	P38606_355_D
Q9NPL8	TIMMDC1	0	M	V	1	ClinVar	criteria provided, single submitter	0.010526315789473684	Complex I assembly factor TIMMDC1, mitochondrial (	M1V	True	False	False	False	True	Q9NPL8_0_V
P09493	TPM1	218	D	V	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D219V	False	False	False	False	False	P09493_218_V
Q99250	SCN2A	1802	E	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E1803G	False	False	False	False	False	Q99250_1802_G
Q99250	SCN2A	1311	R	T	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1312T	False	False	False	False	False	Q99250_1311_T
O14521	SDHD	106	L	P	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L107P	False	False	False	True	False	O14521_106_P
P21912	SDHB	207	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G208R	False	False	False	True	False	P21912_207_R
P21912	SDHB	207	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	G208E	False	False	False	True	False	P21912_207_E
Q14315	FLNC	1750	R	H	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1751H	False	False	False	False	False	Q14315_1750_H
Q8TAB3	PCDH19	220	T	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	T221S	False	False	False	False	False	Q8TAB3_220_S
Q99250	SCN2A	240	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L241R	False	False	False	False	False	Q99250_240_R
P21912	SDHB	242	C	R	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C243R	False	False	True	True	False	P21912_242_R
P21912	SDHB	229	R	G	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R230G	False	False	False	True	False	P21912_229_G
P21912	SDHB	42	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	A43P	True	False	False	True	True	P21912_42_P
O60890	OPHN1	714	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01371571072319202	Oligophrenin-1	A715V	False	False	False	False	False	O60890_714_V
Q9NX18	SDHAF2	7	S	P	0	ClinVar	criteria provided, single submitter	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	S8P	True	False	False	False	True	Q9NX18_7_P
O00555	CACNA1A	841	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E842K	False	False	False	False	False	O00555_841_K
P21912	SDHB	92	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C93Y	False	False	True	True	False	P21912_92_Y
P61764	STXBP1	445	L	F	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L446F	False	False	False	False	False	P61764_445_F
P14867	GABRA1	89	D	V	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	D90V	False	False	False	False	False	P14867_89_V
P09471	GNAO1	5	S	I	1	ClinVar	no assertion criteria provided	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	S6I	True	False	False	False	True	P09471_5_I
P54289	CACNA2D1	208	G	D	1	ClinVar	no assertion criteria provided	0.01813236627379873	Voltage-dependent calcium channel subunit alpha-2/	G209D	False	False	False	False	False	P54289_208_D
Q9UM11	FZR1	186	D	G	1	ClinVar	no assertion criteria provided	0.014112903225806451	Fizzy-related protein homolog (Fzr) (CDC20-like pr	D187G	False	False	False	False	False	Q9UM11_186_G
Q9UM11	FZR1	186	D	N	1	ClinVar	no assertion criteria provided	0.014112903225806451	Fizzy-related protein homolog (Fzr) (CDC20-like pr	D187N	False	False	False	False	False	Q9UM11_186_N
Q9UM11	FZR1	332	N	K	1	ClinVar	no assertion criteria provided	0.014112903225806451	Fizzy-related protein homolog (Fzr) (CDC20-like pr	N333K	False	False	False	False	False	Q9UM11_332_K
Q6UVM3	KCNT2	555	T	I	1	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	T556I	False	False	False	False	False	Q6UVM3_555_I
Q99250	SCN2A	1279	L	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1280P	False	False	False	False	False	Q99250_1279_P
Q05193	DNM1	681	P	R	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	P682R	False	False	False	False	False	Q05193_681_R
P13637	ATP1A3	88	G	C	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G89C	False	True	False	True	False	P13637_88_C
P43004	SLC1A2	229	I	T	1	ClinVar	criteria provided, single submitter	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	I230T	False	False	False	False	False	P43004_229_T
Q9NQL2	RRAGD	75	S	L	1	ClinVar	criteria provided, single submitter	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	S76L	False	False	False	False	False	Q9NQL2_75_L
Q9NQL2	RRAGD	118	P	L	1	ClinVar	no assertion criteria provided	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	P119L	False	False	False	False	False	Q9NQL2_118_L
Q9NQL2	RRAGD	75	S	W	1	ClinVar	no assertion criteria provided	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	S76W	False	False	False	False	False	Q9NQL2_75_W
Q9NQL2	RRAGD	96	T	P	1	ClinVar	no assertion criteria provided	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	T97P	False	False	False	False	False	Q9NQL2_96_P
P09471	GNAO1	39	G	A	1	ClinVar	no assertion criteria provided	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G40A	True	False	False	False	True	P09471_39_A
Q5TEU4	NDUFAF5	250	M	R	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M251R	False	False	False	False	False	Q5TEU4_250_R
Q96RP9	GFM1	722	C	R	1	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	C723R	False	False	True	True	False	Q96RP9_722_R
O14647	CHD2	868	A	F	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A869F	False	False	False	False	False	O14647_868_F
Q05193	DNM1	647	M	T	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	M648T	False	False	False	False	False	Q05193_647_T
Q05193	DNM1	210	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	D211V	False	False	False	False	False	Q05193_210_V
O00429	DNM1L	415	L	P	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	L416P	False	False	False	False	False	O00429_415_P
Q05639	EEF1A2	14	H	N	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	H15N	True	False	False	False	True	Q05639_14_N
P14867	GABRA1	279	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	P280L	False	False	False	False	False	P14867_279_L
P47870	GABRB2	309	M	T	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	M310T	False	False	False	False	False	P47870_309_T
O15399	GRIN2D	776	T	I	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	T777I	False	False	False	False	False	O15399_776_I
O60741	HCN1	264	L	H	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	L265H	False	False	False	False	False	O60741_264_H
O60741	HCN1	178	N	Y	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	N179Y	False	False	False	False	False	O60741_178_Y
Q00839	HNRNPU	20	K	E	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K21E	True	False	False	False	True	Q00839_20_E
P16389	KCNA2	261	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	A262V	False	False	False	False	False	P16389_261_V
P16389	KCNA2	376	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01603206412825651	Potassium voltage-gated channel subfamily A member	Y377C	False	True	False	True	False	P16389_376_C
Q14721	KCNB1	368	W	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	W369L	False	False	False	False	False	Q14721_368_L
Q00577	PURA	75	D	V	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	D76V	False	False	False	False	False	Q00577_75_V
Q99250	SCN2A	1499	A	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1500V	False	False	False	False	False	Q99250_1499_V
Q99250	SCN2A	1475	F	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F1476I	False	False	False	False	False	Q99250_1475_I
Q99250	SCN2A	272	N	K	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N273K	False	False	False	False	False	Q99250_272_K
Q99250	SCN2A	1540	I	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1541N	False	False	False	False	False	Q99250_1540_N
Q9UQD0	SCN8A	977	S	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S978R	False	False	False	False	False	Q9UQD0_977_R
Q9UQD0	SCN8A	259	F	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F260V	False	False	False	False	False	Q9UQD0_259_V
Q9UQD0	SCN8A	1623	I	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1624S	False	False	False	False	False	Q9UQD0_1623_S
P43004	SLC1A2	290	G	V	1	ClinVar	criteria provided, single submitter	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	G291V	False	False	False	False	False	P43004_290_V
P61764	STXBP1	233	D	G	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	D234G	False	False	False	False	False	P61764_233_G
P61764	STXBP1	552	A	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A553P	False	False	False	False	False	P61764_552_P
P61764	STXBP1	206	D	G	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	D207G	False	False	False	False	False	P61764_206_G
P61764	STXBP1	249	Q	E	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Q250E	False	False	False	False	False	P61764_249_E
O76039	CDKL5	26	V	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V27A	True	False	False	False	True	O76039_26_A
P05165	PCCA	319	A	D	1	ClinVar	no assertion criteria provided	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	A320D	False	False	False	False	False	P05165_319_D
P12883	MYH7	327	E	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E328G	False	False	False	False	False	P12883_327_G
Q9UM47	NOTCH3	143	C	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C144F	False	False	True	True	False	Q9UM47_143_F
O43526	KCNQ2	289	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G290C	False	True	False	True	False	O43526_289_C
O00429	DNM1L	142	T	R	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	T143R	False	False	False	False	False	O00429_142_R
P22570	FDXR	110	V	A	1	ClinVar	criteria provided, single submitter	0.016293279022403257	NADPH:adrenodoxin oxidoreductase, mitochondrial (A	V111A	False	False	False	False	False	P22570_110_A
P14867	GABRA1	215	N	I	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	N216I	False	False	False	False	False	P14867_215_I
Q99259	GAD1	456	R	H	1	ClinVar	criteria provided, single submitter	0.021885521885521887	Glutamate decarboxylase 1 (EC 4.1.1.15) (67 kDa gl	R457H	False	False	False	False	False	Q99259_456_H
P40926	MDH2	294	G	V	1	ClinVar	criteria provided, single submitter	0.023668639053254437	Malate dehydrogenase, mitochondrial (EC 1.1.1.37)	G295V	False	False	False	False	False	P40926_294_V
Q9NX14	NDUFB11	95	S	P	1	ClinVar	criteria provided, single submitter	0.006535947712418301	NADH dehydrogenase [ubiquinone] 1 beta subcomplex 	S96P	False	False	False	False	False	Q9NX14_95_P
O00217	NDUFS8	56	R	P	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R57P	False	False	False	True	False	O00217_56_P
P08559	PDHA1	213	W	G	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	W214G	False	False	False	True	False	P08559_213_G
Q96JX3	SERAC1	403	G	E	1	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	G404E	False	False	False	False	False	Q96JX3_403_E
P02462	COL4A1	208	G	S	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G209S	False	False	False	False	False	P02462_208_S
Q99250	SCN2A	1474	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N1475K	False	False	False	False	False	Q99250_1474_K
P10589	NR2F1	102	C	R	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	C103R	False	False	True	True	False	P10589_102_R
P63267	ACTG2	210	R	L	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R211L	False	False	False	False	False	P63267_210_L
Q99715	COL12A1	369	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P370L	False	False	False	False	False	Q99715_369_L
P08559	PDHA1	172	L	P	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L173P	False	False	False	True	False	P08559_172_P
Q9BWU1	CDK19	136	D	V	0	ClinVar	criteria provided, single submitter	0.0099601593625498	Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-re	D137V	False	False	False	False	False	Q9BWU1_136_V
O14647	CHD2	1312	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1313G	False	False	False	False	False	O14647_1312_G
O14647	CHD2	414	C	F	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	C415F	False	False	True	True	False	O14647_414_F
Q9UM47	NOTCH3	596	C	W	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C597W	False	False	True	True	False	Q9UM47_596_W
Q7KZN9	COX15	279	F	S	1	ClinVar	criteria provided, single submitter	0.014634146341463415	Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytoch	F280S	False	False	False	False	False	Q7KZN9_279_S
O43526	KCNQ2	278	G	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G279S	False	False	False	False	False	O43526_278_S
Q13224	GRIN2B	614	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N615S	False	False	False	False	False	Q13224_614_S
Q00577	PURA	72	F	V	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	F73V	False	False	False	False	False	Q00577_72_V
O14647	CHD2	896	A	T	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A897T	False	False	False	False	False	O14647_896_T
O00217	NDUFS8	108	E	K	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	E109K	False	False	False	True	False	O00217_108_K
P43897	TSFM	257	Q	H	1	ClinVar	criteria provided, single submitter	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	Q258H	False	False	False	False	False	P43897_257_H
P61764	STXBP1	571	I	M	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I572M	False	False	False	False	False	P61764_571_M
Q13813	SPTAN1	960	A	T	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	A961T	False	False	False	False	False	Q13813_960_T
P10589	NR2F1	88	C	G	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	C89G	False	False	True	True	False	P10589_88_G
O75251	NDUFS7	101	D	N	1	ClinVar	criteria provided, single submitter	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	D102N	False	False	False	False	False	O75251_101_N
Q13496	MTM1	401	G	V	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	G402V	False	False	False	False	False	Q13496_401_V
P08559	PDHA1	170	V	M	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V171M	False	False	False	True	False	P08559_170_M
Q99250	SCN2A	1770	Y	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Y1771N	False	False	False	False	False	Q99250_1770_N
P02585	TNNC2	33	D	Y	1	ClinVar	no assertion criteria provided	0.00625	Troponin C, skeletal muscle	D34Y	True	False	False	False	True	P02585_33_Y
P02585	TNNC2	78	M	I	1	ClinVar	no assertion criteria provided	0.00625	Troponin C, skeletal muscle	M79I	False	False	False	False	False	P02585_78_I
Q9UM47	NOTCH3	1057	G	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G1058C	False	True	False	True	False	Q9UM47_1057_C
P05166	PCCB	201	G	A	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G202A	False	False	False	False	False	P05166_201_A
Q92913	FGF13	1	A	G	1	ClinVar	no assertion criteria provided	0.0163265306122449	Fibroblast growth factor 13 (FGF-13) (Fibroblast g	A2G	True	False	False	False	True	Q92913_1_G
P23378	GLDC	961	R	P	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R962P	False	False	False	False	False	P23378_961_P
P23378	GLDC	365	Q	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Q366R	False	False	False	False	False	P23378_365_R
Q16740	CLPP	220	E	K	1	ClinVar	criteria provided, single submitter	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	E221K	False	False	False	False	False	Q16740_220_K
P12110	COL6A2	291	G	D	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	G292D	False	False	False	False	False	P12110_291_D
P19971	TYMP	346	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	L347P	False	False	False	False	False	P19971_346_P
O76039	CDKL5	201	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G202E	False	False	False	False	False	O76039_201_E
O76039	CDKL5	270	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L271P	False	False	False	False	False	O76039_270_P
P20929	NEB	6307	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K6308R	False	False	False	False	False	P20929_6307_R
Q5ST30	VARS2	127	Q	R	0	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	Q128R	False	False	False	False	False	Q5ST30_127_R
P20929	NEB	7951	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L7952F	False	False	False	False	False	P20929_7951_F
P06753	TPM3	90	R	H	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R91H	False	False	False	False	False	P06753_90_H
P20929	NEB	6293	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I6294T	False	False	False	False	False	P20929_6293_T
Q9NZV8	KCND2	538	R	L	0	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	R539L	False	False	False	False	False	Q9NZV8_538_L
P20929	NEB	8372	N	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N8373K	False	False	False	False	False	P20929_8372_K
P20929	NEB	7384	V	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V7385F	False	False	False	False	False	P20929_7384_F
O00142	TK2	134	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	S135L	False	False	False	False	False	O00142_134_L
P20929	NEB	1447	G	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G1448R	False	False	False	False	False	P20929_1447_R
P20929	NEB	6844	P	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P6845T	False	False	False	False	False	P20929_6844_T
P35218	CA5A	59	G	R	0	ClinVar	criteria provided, single submitter	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	G60R	False	False	False	False	False	P35218_59_R
P12110	COL6A2	833	I	V	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	I834V	False	False	False	False	False	P12110_833_V
Q15878	CACNA1E	1571	M	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	M1572L	False	False	False	False	False	Q15878_1571_L
P12109	COL6A1	242	V	M	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V243M	False	False	False	False	False	P12109_242_M
P20929	NEB	6327	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D6328N	False	False	False	False	False	P20929_6327_N
P20929	NEB	7420	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7421E	False	False	False	False	False	P20929_7420_E
P20929	NEB	1365	S	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S1366Y	False	False	False	False	False	P20929_1365_Y
P12111	COL6A3	18	G	D	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G19D	True	False	False	False	True	P12111_18_D
P20929	NEB	5925	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G5926D	False	False	False	False	False	P20929_5925_D
Q16363	LAMA4	1654	G	E	0	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	G1655E	False	False	False	False	False	Q16363_1654_E
P12109	COL6A1	998	G	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G999S	False	False	False	False	False	P12109_998_S
P20929	NEB	8025	M	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M8026I	False	False	False	False	False	P20929_8025_I
Q9P2R7	SUCLA2	332	D	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012958963282937365	Succinate--CoA ligase [ADP-forming] subunit beta, 	D333G	False	False	False	False	False	Q9P2R7_332_G
P12883	MYH7	1037	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1038P	False	False	False	False	False	P12883_1037_P
P12109	COL6A1	183	V	I	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V184I	False	False	False	False	False	P12109_183_I
P20929	NEB	2916	D	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D2917Y	False	False	False	False	False	P20929_2916_Y
P20929	NEB	1297	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R1298Q	False	False	False	False	False	P20929_1297_Q
Q99715	COL12A1	510	P	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P511S	False	False	False	False	False	Q99715_510_S
P20929	NEB	3533	H	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H3534Y	False	False	False	False	False	P20929_3533_Y
P11498	PC	37	K	Q	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	K38Q	True	False	False	False	True	P11498_37_Q
P16389	KCNA2	418	R	L	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R419L	False	False	False	False	False	P16389_418_L
P12111	COL6A3	764	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A765T	False	False	False	False	False	P12111_764_T
P12109	COL6A1	35	V	M	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V36M	True	False	False	False	True	P12109_35_M
O60741	HCN1	616	Q	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	Q617R	False	False	False	False	False	O60741_616_R
P20929	NEB	6875	V	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V6876I	False	False	False	False	False	P20929_6875_I
P20929	NEB	464	D	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D465G	False	False	False	False	False	P20929_464_G
P55072	VCP	155	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	G156S	False	False	False	False	False	P55072_155_S
Q9Y223	GNE	207	D	N	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	D208N	False	False	False	False	False	Q9Y223_207_N
Q9Y223	GNE	185	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	Y186H	False	False	False	False	False	Q9Y223_185_H
Q96RR1	TWNK	399	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R400C	False	True	False	True	False	Q96RR1_399_C
Q96QS3	ARX	533	A	P	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	A534P	False	False	False	False	False	Q96QS3_533_P
Q8TAB3	PCDH19	24	L	P	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	L25P	True	False	False	False	True	Q8TAB3_24_P
O60741	HCN1	714	R	G	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R715G	False	False	False	False	False	O60741_714_G
P20929	NEB	7341	K	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7342N	False	False	False	False	False	P20929_7341_N
P20929	NEB	1451	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I1452V	False	False	False	False	False	P20929_1451_V
P20929	NEB	8035	F	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F8036L	False	False	False	False	False	P20929_8035_L
C9JR72	KBTBD13	44	A	S	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	A45S	True	False	False	True	True	C9JR72_44_S
P20929	NEB	2402	V	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V2403D	False	False	False	False	False	P20929_2402_D
P12109	COL6A1	336	M	I	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	M337I	False	False	False	False	False	P12109_336_I
P20929	NEB	7318	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7319R	False	False	False	False	False	P20929_7318_R
Q99250	SCN2A	14	R	H	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R15H	True	False	False	False	True	Q99250_14_H
P20929	NEB	6722	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R6723Q	False	False	False	False	False	P20929_6722_Q
C9JR72	KBTBD13	123	S	G	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	S124G	False	False	False	True	False	C9JR72_123_G
P20929	NEB	7889	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I7890T	False	False	False	False	False	P20929_7889_T
P20929	NEB	3658	D	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D3659G	False	False	False	False	False	P20929_3658_G
P20929	NEB	6478	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6479C	False	True	False	True	False	P20929_6478_C
O75112	LDB3	165	A	D	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	A166D	False	False	False	False	False	O75112_165_D
Q9P0J0	NDUFA13	24	L	W	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	L25W	True	False	False	False	True	Q9P0J0_24_W
P20929	NEB	8011	E	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E8012Q	False	False	False	False	False	P20929_8011_Q
P20929	NEB	1657	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L1658F	False	False	False	False	False	P20929_1657_F
P12109	COL6A1	613	I	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	I614V	False	False	False	False	False	P12109_613_V
P20929	NEB	1837	E	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E1838A	False	False	False	False	False	P20929_1837_A
Q9ULP9	TBC1D24	499	A	G	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	A500G	False	False	False	True	False	Q9ULP9_499_G
Q00839	HNRNPU	529	T	A	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	T530A	False	False	False	False	False	Q00839_529_A
P11498	PC	817	R	T	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R818T	False	False	False	False	False	P11498_817_T
P15924	DSP	2392	K	Q	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K2393Q	False	False	False	False	False	P15924_2392_Q
P20929	NEB	8479	A	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A8480S	False	False	False	False	False	P20929_8479_S
P20929	NEB	3695	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T3696I	False	False	False	False	False	P20929_3695_I
P12111	COL6A3	3071	G	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G3072R	False	False	False	False	False	P12111_3071_R
P20929	NEB	1381	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H1382R	False	False	False	False	False	P20929_1381_R
P20929	NEB	6805	L	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L6806Q	False	False	False	False	False	P20929_6805_Q
P20929	NEB	7318	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7319T	False	False	False	False	False	P20929_7318_T
P23378	GLDC	270	G	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G271R	False	False	False	False	False	P23378_270_R
P15924	DSP	459	P	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	P460S	False	False	False	False	False	P15924_459_S
P12109	COL6A1	114	S	T	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S115T	False	False	False	False	False	P12109_114_T
P12111	COL6A3	1353	D	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	D1354N	False	False	False	False	False	P12111_1353_N
P02462	COL4A1	576	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G577V	False	False	False	False	False	P02462_576_V
O00555	CACNA1A	1768	P	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1769L	False	False	False	False	False	O00555_1768_L
P20929	NEB	7887	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7888K	False	False	False	False	False	P20929_7887_K
P20929	NEB	1297	R	W	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R1298W	False	False	False	False	False	P20929_1297_W
Q13813	SPTAN1	1107	N	S	0	ClinVar	criteria provided, single submitter	0.0056634304207119745	Spectrin alpha chain, non-erythrocytic 1 (Alpha-II	N1108S	False	False	False	False	False	Q13813_1107_S
P20929	NEB	10	V	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V11L	True	False	False	False	True	P20929_10_L
O76039	CDKL5	177	R	L	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R178L	False	False	False	False	False	O76039_177_L
Q96QS3	ARX	383	R	C	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R384C	False	True	False	True	False	Q96QS3_383_C
Q14721	KCNB1	857	I	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I858V	False	False	False	False	False	Q14721_857_V
Q99715	COL12A1	1679	S	P	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S1680P	False	False	False	False	False	Q99715_1679_P
Q99715	COL12A1	1464	P	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P1465A	False	False	False	False	False	Q99715_1464_A
P05166	PCCB	249	H	Y	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	H250Y	False	False	False	False	False	P05166_249_Y
P09471	GNAO1	51	Q	P	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Q52P	False	False	False	False	False	P09471_51_P
O95571	ETHE1	0	M	K	1	ClinVar	criteria provided, single submitter	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	M1K	True	False	False	True	True	O95571_0_K
O43526	KCNQ2	275	T	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T276P	False	False	False	False	False	O43526_275_P
P20929	NEB	1487	M	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1488I	False	False	False	False	False	P20929_1487_I
P20929	NEB	7984	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7985E	False	False	False	False	False	P20929_7984_E
Q8NCM2	KCNH5	751	V	M	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	V752M	False	False	False	False	False	Q8NCM2_751_M
P12883	MYH7	1495	E	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E1496K	False	False	False	False	False	P12883_1495_K
Q5T481	RBM20	661	P	L	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P662L	False	False	False	False	False	Q5T481_661_L
P40939	HADHA	5	A	V	0	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	A6V	True	False	False	False	True	P40939_5_V
Q9NP73	ALG13	342	S	C	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S343C	False	True	False	True	False	Q9NP73_342_C
P20929	NEB	6377	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K6378E	False	False	False	False	False	P20929_6377_E
P20929	NEB	7677	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D7678E	False	False	False	False	False	P20929_7677_E
P20929	NEB	7015	I	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I7016F	False	False	False	False	False	P20929_7015_F
Q00839	HNRNPU	796	N	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N797S	False	False	False	False	False	Q00839_796_S
P20929	NEB	764	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T765M	False	False	False	False	False	P20929_764_M
P12109	COL6A1	576	E	A	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E577A	False	False	False	False	False	P12109_576_A
P20929	NEB	6403	L	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L6404V	False	False	False	False	False	P20929_6403_V
P20929	NEB	109	G	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G110A	False	False	False	False	False	P20929_109_A
P20929	NEB	1384	G	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G1385E	False	False	False	False	False	P20929_1384_E
P20929	NEB	778	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G779D	False	False	False	False	False	P20929_778_D
P20929	NEB	5881	R	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R5882G	False	False	False	False	False	P20929_5881_G
Q05193	DNM1	342	R	H	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R343H	False	False	False	False	False	Q05193_342_H
P20929	NEB	3667	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T3668M	False	False	False	False	False	P20929_3667_M
O60313	OPA1	19	H	Y	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	H20Y	True	False	False	False	True	O60313_19_Y
Q15526	SURF1	273	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	Y274C	False	True	False	True	False	Q15526_273_C
P23378	GLDC	381	C	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C382S	False	False	True	True	False	P23378_381_S
P30049	ATP5F1D	123	M	V	0	ClinVar	criteria provided, single submitter	0.0	ATP synthase F(1) complex subunit delta, mitochond	M124V	False	False	False	False	False	P30049_123_V
P12110	COL6A2	957	H	Q	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	H958Q	False	False	False	False	False	P12110_957_Q
P15924	DSP	429	E	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E430K	False	False	False	False	False	P15924_429_K
P36776	LONP1	20	R	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R21Q	True	False	False	False	True	P36776_20_Q
P12110	COL6A2	859	A	V	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	A860V	False	False	False	False	False	P12110_859_V
P20929	NEB	6756	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6757H	False	False	False	False	False	P20929_6756_H
P23378	GLDC	615	N	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N616S	False	False	False	False	False	P23378_615_S
P12110	COL6A2	651	P	S	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	P652S	False	False	False	False	False	P12110_651_S
P20929	NEB	1000	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I1001V	False	False	False	False	False	P20929_1000_V
P12109	COL6A1	884	R	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R885H	False	False	False	False	False	P12109_884_H
P48728	AMT	330	R	W	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R331W	False	False	False	False	False	P48728_330_W
P20929	NEB	6571	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6572C	False	True	False	True	False	P20929_6571_C
P15924	DSP	2101	G	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	G2102V	False	False	False	False	False	P15924_2101_V
P12110	COL6A2	942	S	F	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	S943F	False	False	False	False	False	P12110_942_F
P20929	NEB	8186	N	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N8187K	False	False	False	False	False	P20929_8186_K
O60741	HCN1	678	H	R	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	H679R	False	False	False	False	False	O60741_678_R
Q99250	SCN2A	1324	V	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1325I	False	False	False	False	False	Q99250_1324_I
P35498	SCN1A	1328	R	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1329P	False	False	False	False	False	P35498_1328_P
P35498	SCN1A	983	L	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L984R	False	False	False	False	False	P35498_983_R
P17661	DES	114	L	I	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	L115I	False	False	False	False	False	P17661_114_I
P12110	COL6A2	1014	I	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	I1015T	False	False	False	False	False	P12110_1014_T
P36776	LONP1	106	P	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	P107Q	False	False	False	False	False	P36776_106_Q
P11498	PC	764	D	N	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	D765N	False	False	False	False	False	P11498_764_N
Q71F56	MED13L	1494	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.023076923076923078	Mediator of RNA polymerase II transcription subuni	N1495S	False	False	False	False	False	Q71F56_1494_S
P20929	NEB	1574	K	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1575N	False	False	False	False	False	P20929_1574_N
Q99715	COL12A1	1833	R	W	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R1834W	False	False	False	False	False	Q99715_1833_W
Q14721	KCNB1	613	S	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S614N	False	False	False	False	False	Q14721_613_N
P12109	COL6A1	548	E	K	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E549K	False	False	False	False	False	P12109_548_K
P12883	MYH7	1192	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1193G	False	False	False	False	False	P12883_1192_G
P20929	NEB	2051	A	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2052D	False	False	False	False	False	P20929_2051_D
P12109	COL6A1	992	E	K	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E993K	False	False	False	False	False	P12109_992_K
P12109	COL6A1	849	R	C	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R850C	False	True	False	True	False	P12109_849_C
P20929	NEB	1434	V	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V1435A	False	False	False	False	False	P20929_1434_A
P35498	SCN1A	516	E	G	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E517G	False	False	False	False	False	P35498_516_G
P20929	NEB	7633	S	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S7634G	False	False	False	False	False	P20929_7633_G
C9JR72	KBTBD13	47	V	L	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	V48L	True	False	False	True	True	C9JR72_47_L
P35609	ACTN2	534	A	V	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A535V	False	False	False	False	False	P35609_534_V
P20929	NEB	1616	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G1617D	False	False	False	False	False	P20929_1616_D
P20929	NEB	7614	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M7615T	False	False	False	False	False	P20929_7614_T
Q14315	FLNC	1508	T	A	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	T1509A	False	False	False	False	False	Q14315_1508_A
P12110	COL6A2	583	P	A	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	P584A	False	False	False	False	False	P12110_583_A
P35609	ACTN2	678	K	R	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	K679R	False	False	False	False	False	P35609_678_R
P20929	NEB	951	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y952C	False	True	False	True	False	P20929_951_C
P05165	PCCA	372	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	M373V	False	False	False	False	False	P05165_372_V
P20929	NEB	994	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S995L	False	False	False	False	False	P20929_994_L
P20929	NEB	2910	V	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V2911G	False	False	False	False	False	P20929_2910_G
O14647	CHD2	1355	K	R	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K1356R	False	False	False	False	False	O14647_1355_R
O75112	LDB3	135	P	R	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P136R	False	False	False	False	False	O75112_135_R
P20929	NEB	434	V	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V435I	False	False	False	False	False	P20929_434_I
P36776	LONP1	868	M	T	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	M869T	False	False	False	False	False	P36776_868_T
P36776	LONP1	521	Y	C	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	Y522C	False	True	False	True	False	P36776_521_C
P12109	COL6A1	104	R	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R105H	False	False	False	False	False	P12109_104_H
P49821	NDUFV1	20	S	T	0	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	S21T	True	False	False	False	True	P49821_20_T
P20929	NEB	318	M	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M319L	False	False	False	False	False	P20929_318_L
Q9UJS0	SLC25A13	361	T	A	0	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	T362A	False	False	False	False	False	Q9UJS0_361_A
P20929	NEB	1080	Q	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q1081K	False	False	False	False	False	P20929_1080_K
Q15878	CACNA1E	424	R	P	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R425P	False	False	False	False	False	Q15878_424_P
P20929	NEB	700	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S701N	False	False	False	False	False	P20929_700_N
Q9P032	NDUFAF4	20	E	V	0	ClinVar	criteria provided, single submitter	0.005714285714285714	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	E21V	True	False	False	False	True	Q9P032_20_V
P36776	LONP1	948	D	E	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	D949E	False	False	False	False	False	P36776_948_E
P20929	NEB	2054	S	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S2055F	False	False	False	False	False	P20929_2054_F
Q14315	FLNC	1689	L	V	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	L1690V	False	False	False	False	False	Q14315_1689_V
P20929	NEB	6498	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M6499T	False	False	False	False	False	P20929_6498_T
P20929	NEB	7506	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T7507I	False	False	False	False	False	P20929_7506_I
P20929	NEB	1978	V	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V1979I	False	False	False	False	False	P20929_1978_I
P12109	COL6A1	214	A	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A215V	False	False	False	False	False	P12109_214_V
P20929	NEB	1129	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y1130C	False	True	False	True	False	P20929_1129_C
P20929	NEB	2318	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H2319R	False	False	False	False	False	P20929_2318_R
Q8WYQ3	CHCHD10	44	M	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	M45K	True	False	False	False	True	Q8WYQ3_44_K
P20929	NEB	6351	T	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T6352R	False	False	False	False	False	P20929_6351_R
P20929	NEB	914	V	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V915I	False	False	False	False	False	P20929_914_I
Q13224	GRIN2B	1213	F	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	F1214S	False	False	False	False	False	Q13224_1213_S
P45379	TNNT2	96	F	Y	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	F97Y	False	False	False	False	False	P45379_96_Y
Q8NI60	COQ8A	303	A	T	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	A304T	False	False	False	False	False	Q8NI60_303_T
P68133	ACTA1	203	T	I	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	T204I	False	False	False	False	False	P68133_203_I
P68133	ACTA1	16	G	D	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G17D	True	False	False	False	True	P68133_16_D
Q16854	DGUOK	0	M	V	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	M1V	True	False	False	False	True	Q16854_0_V
Q16854	DGUOK	225	H	R	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	H226R	False	False	False	False	False	Q16854_225_R
Q99250	SCN2A	1318	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1319P	False	False	False	False	False	Q99250_1318_P
P35498	SCN1A	1723	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1724T	False	False	False	False	False	P35498_1723_T
P35498	SCN1A	1629	V	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1630L	False	False	False	False	False	P35498_1629_L
P35498	SCN1A	1554	M	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1555R	False	False	False	False	False	P35498_1554_R
P35498	SCN1A	1420	G	W	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1421W	False	False	False	False	False	P35498_1420_W
P35498	SCN1A	1393	T	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1394I	False	False	False	False	False	P35498_1393_I
P35498	SCN1A	1357	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1358R	False	False	False	False	False	P35498_1357_R
P35498	SCN1A	1327	S	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1328P	False	False	False	False	False	P35498_1327_P
P35498	SCN1A	1220	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1221K	False	False	False	False	False	P35498_1220_K
P35498	SCN1A	980	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L981P	False	False	False	False	False	P35498_980_P
P35498	SCN1A	323	H	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	H324N	False	False	False	False	False	P35498_323_N
P35498	SCN1A	276	C	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C277R	False	False	True	True	False	P35498_276_R
P35498	SCN1A	190	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N191K	False	False	False	False	False	P35498_190_K
P12111	COL6A3	2073	G	D	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G2074D	False	False	False	False	False	P12111_2073_D
P11498	PC	416	V	I	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	V417I	False	False	False	False	False	P11498_416_I
P20929	NEB	7107	K	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7108I	False	False	False	False	False	P20929_7107_I
P20929	NEB	5606	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R5607Q	False	False	False	False	False	P20929_5606_Q
P11498	PC	1128	A	V	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A1129V	False	False	False	False	False	P11498_1128_V
P15924	DSP	1254	R	T	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1255T	False	False	False	False	False	P15924_1254_T
P20929	NEB	7105	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7106R	False	False	False	False	False	P20929_7105_R
P23378	GLDC	745	D	N	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	D746N	False	False	False	False	False	P23378_745_N
P20929	NEB	313	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E314K	False	False	False	False	False	P20929_313_K
P20929	NEB	8409	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E8410K	False	False	False	False	False	P20929_8409_K
O95140	MFN2	366	Q	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	Q367P	False	False	False	False	False	O95140_366_P
P21912	SDHB	188	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C189Y	False	False	True	True	False	P21912_188_Y
P12111	COL6A3	543	R	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R544L	False	False	False	False	False	P12111_543_L
Q14721	KCNB1	568	V	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V569L	False	False	False	False	False	Q14721_568_L
P20929	NEB	8315	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8316Q	False	False	False	False	False	P20929_8315_Q
P20929	NEB	1460	K	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1461Q	False	False	False	False	False	P20929_1460_Q
P20929	NEB	2760	G	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G2761S	False	False	False	False	False	P20929_2760_S
Q14315	FLNC	978	A	T	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A979T	False	False	False	False	False	Q14315_978_T
Q99715	COL12A1	324	G	D	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G325D	False	False	False	False	False	Q99715_324_D
P20929	NEB	493	K	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K494N	False	False	False	False	False	P20929_493_N
Q9NP73	ALG13	953	N	D	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	N954D	False	False	False	False	False	Q9NP73_953_D
P20929	NEB	6908	H	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H6909Y	False	False	False	False	False	P20929_6908_Y
P15924	DSP	491	K	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K492R	False	False	False	False	False	P15924_491_R
Q13224	GRIN2B	1371	M	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M1372V	False	False	False	False	False	Q13224_1371_V
P20929	NEB	512	Q	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q513R	False	False	False	False	False	P20929_512_R
P20929	NEB	1835	S	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S1836G	False	False	False	False	False	P20929_1835_G
P20929	NEB	6694	A	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A6695P	False	False	False	False	False	P20929_6694_P
P11498	PC	941	R	H	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R942H	False	False	False	False	False	P11498_941_H
P05166	PCCB	437	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	A438V	False	False	False	False	False	P05166_437_V
P05166	PCCB	504	I	N	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	I505N	False	False	False	False	False	P05166_504_N
P20929	NEB	1728	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1729T	False	False	False	False	False	P20929_1728_T
P28331	NDUFS1	75	R	S	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	R76S	False	False	False	False	False	P28331_75_S
O76039	CDKL5	287	T	R	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T288R	False	False	False	False	False	O76039_287_R
Q9UM47	NOTCH3	378	C	Y	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C379Y	False	False	True	True	False	Q9UM47_378_Y
P20929	NEB	7701	N	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N7702S	False	False	False	False	False	P20929_7701_S
Q96RR1	TWNK	161	I	V	0	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	I162V	False	False	False	False	False	Q96RR1_161_V
O76039	CDKL5	192	D	V	1	ClinVar	reviewed by expert panel	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	D193V	False	False	False	False	False	O76039_192_V
O76039	CDKL5	566	T	M	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	T567M	False	False	False	False	False	O76039_566_M
Q5T481	RBM20	220	P	L	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P221L	False	False	False	False	False	Q5T481_220_L
P20929	NEB	7724	L	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L7725V	False	False	False	False	False	P20929_7724_V
P55084	HADHB	129	P	L	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	P130L	False	False	False	False	False	P55084_129_L
P35498	SCN1A	958	C	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C959G	False	False	True	True	False	P35498_958_G
P35498	SCN1A	99	F	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F100V	False	False	False	False	False	P35498_99_V
Q9NP73	ALG13	626	M	V	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	M627V	False	False	False	False	False	Q9NP73_626_V
P20929	NEB	961	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V962M	False	False	False	False	False	P20929_961_M
P20929	NEB	486	Q	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q487L	False	False	False	False	False	P20929_486_L
P05165	PCCA	210	E	G	0	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	E211G	False	False	False	False	False	P05165_210_G
P20929	NEB	8275	T	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T8276N	False	False	False	False	False	P20929_8275_N
P20929	NEB	2358	S	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S2359T	False	False	False	False	False	P20929_2358_T
P12111	COL6A3	551	L	F	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	L552F	False	False	False	False	False	P12111_551_F
Q99715	COL12A1	572	A	T	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A573T	False	False	False	False	False	Q99715_572_T
P20929	NEB	6660	G	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G6661R	False	False	False	False	False	P20929_6660_R
O75899	GABBR2	659	V	I	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	V660I	False	False	False	False	False	O75899_659_I
P20929	NEB	8005	S	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S8006G	False	False	False	False	False	P20929_8005_G
Q9UQD0	SCN8A	222	R	T	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R223T	False	False	False	False	False	Q9UQD0_222_T
O00555	CACNA1A	1987	Q	H	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Q1988H	False	False	False	False	False	O00555_1987_H
P12111	COL6A3	1559	A	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A1560S	False	False	False	False	False	P12111_1559_S
Q15878	CACNA1E	2189	E	K	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	E2190K	False	False	False	False	False	Q15878_2189_K
P36776	LONP1	222	E	K	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	E223K	False	False	False	False	False	P36776_222_K
Q8NI60	COQ8A	18	T	I	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	T19I	True	False	False	False	True	Q8NI60_18_I
Q14721	KCNB1	60	R	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R61H	False	False	False	False	False	Q14721_60_H
P12111	COL6A3	907	I	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I908M	False	False	False	False	False	P12111_907_M
P12111	COL6A3	3	H	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	H4R	True	False	False	False	True	P12111_3_R
P15924	DSP	1889	R	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1890K	False	False	False	False	False	P15924_1889_K
P20929	NEB	7274	S	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S7275C	False	True	False	True	False	P20929_7274_C
P35498	SCN1A	661	S	L	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S662L	False	False	False	False	False	P35498_661_L
P20929	NEB	2378	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V2379M	False	False	False	False	False	P20929_2378_M
Q9NZC7	WWOX	0	M	T	1	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	M1T	True	False	False	False	True	Q9NZC7_0_T
P12110	COL6A2	977	S	C	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	S978C	False	True	False	True	False	P12110_977_C
P20929	NEB	8251	N	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N8252D	False	False	False	False	False	P20929_8251_D
P36776	LONP1	102	A	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A103V	False	False	False	False	False	P36776_102_V
P36776	LONP1	22	M	T	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	M23T	True	False	False	False	True	P36776_22_T
O76039	CDKL5	892	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P893S	False	False	False	False	False	O76039_892_S
O75899	GABBR2	489	I	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I490V	False	False	False	False	False	O75899_489_V
P20929	NEB	7711	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y7712C	False	True	False	True	False	P20929_7711_C
O43526	KCNQ2	153	Y	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y154C	False	True	False	True	False	O43526_153_C
O60313	OPA1	90	A	T	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	A91T	False	False	False	False	False	O60313_90_T
Q99715	COL12A1	1857	S	T	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S1858T	False	False	False	False	False	Q99715_1857_T
Q9Y2Z4	YARS2	426	R	Q	0	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	R427Q	False	False	False	False	False	Q9Y2Z4_426_Q
P36776	LONP1	921	D	H	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	D922H	False	False	False	False	False	P36776_921_H
P15924	DSP	2678	V	M	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V2679M	False	False	False	False	False	P15924_2678_M
P20929	NEB	2008	D	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D2009H	False	False	False	False	False	P20929_2008_H
C9JR72	KBTBD13	220	S	N	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	S221N	False	False	False	True	False	C9JR72_220_N
P35498	SCN1A	463	A	P	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A464P	False	False	False	False	False	P35498_463_P
P12110	COL6A2	765	K	T	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	K766T	False	False	False	False	False	P12110_765_T
P20929	NEB	5655	T	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T5656S	False	False	False	False	False	P20929_5655_S
P12111	COL6A3	1106	N	I	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	N1107I	False	False	False	False	False	P12111_1106_I
Q15878	CACNA1E	2307	E	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	E2308Q	False	False	False	False	False	Q15878_2307_Q
Q6PI48	DARS2	97	E	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	E98D	False	False	False	False	False	Q6PI48_97_D
P12109	COL6A1	106	P	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P107L	False	False	False	False	False	P12109_106_L
Q92743	HTRA1	165	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03333333333333333	Serine protease HTRA1 (EC 3.4.21.-) (High-temperat	R166H	False	False	False	True	False	Q92743_165_H
P20929	NEB	910	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I911V	False	False	False	False	False	P20929_910_V
P20929	NEB	7780	S	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S7781C	False	True	False	True	False	P20929_7780_C
O43819	SCO2	192	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011278195488721804	Protein SCO2 homolog, mitochondrial	G193S	False	False	False	False	False	O43819_192_S
P20929	NEB	1866	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T1867I	False	False	False	False	False	P20929_1866_I
P20929	NEB	6118	N	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N6119S	False	False	False	False	False	P20929_6118_S
P20929	NEB	693	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M694V	False	False	False	False	False	P20929_693_V
O60741	HCN1	78	G	R	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G79R	False	False	False	False	False	O60741_78_R
Q14721	KCNB1	1	P	Q	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P2Q	True	False	False	False	True	Q14721_1_Q
P20929	NEB	5606	R	W	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R5607W	False	False	False	False	False	P20929_5606_W
P36776	LONP1	210	H	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	H211Q	False	False	False	False	False	P36776_210_Q
P12111	COL6A3	312	G	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G313R	False	False	False	False	False	P12111_312_R
P35498	SCN1A	1328	R	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1329L	False	False	False	False	False	P35498_1328_L
P35498	SCN1A	394	A	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A395D	False	False	False	False	False	P35498_394_D
Q15878	CACNA1E	1931	R	Q	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	R1932Q	False	False	False	False	False	Q15878_1931_Q
P54098	POLG	1101	Q	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Q1102P	False	False	False	False	False	P54098_1101_P
P36776	LONP1	59	A	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A60V	False	False	False	False	False	P36776_59_V
Q8NCM2	KCNH5	112	P	L	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	P113L	False	False	False	False	False	Q8NCM2_112_L
P05165	PCCA	471	N	S	0	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	N472S	False	False	False	False	False	P05165_471_S
P20929	NEB	2499	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I2500V	False	False	False	False	False	P20929_2499_V
P02462	COL4A1	340	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G341A	False	False	False	False	False	P02462_340_A
O14647	CHD2	1730	F	C	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	F1731C	False	True	False	True	False	O14647_1730_C
P20929	NEB	682	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G683D	False	False	False	False	False	P20929_682_D
P00558	PGK1	384	T	M	0	ClinVar	criteria provided, single submitter	0.016786570743405275	Phosphoglycerate kinase 1 (EC 2.7.11.1) (EC 2.7.2.	T385M	False	False	False	False	False	P00558_384_M
P35609	ACTN2	304	E	A	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	E305A	False	False	False	False	False	P35609_304_A
P12110	COL6A2	564	E	K	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	E565K	False	False	False	False	False	P12110_564_K
P20929	NEB	352	E	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E353D	False	False	False	False	False	P20929_352_D
Q86YH6	PDSS2	93	L	P	0	ClinVar	criteria provided, single submitter	0.015037593984962405	All trans-polyprenyl-diphosphate synthase PDSS2 (A	L94P	False	False	False	False	False	Q86YH6_93_P
P35498	SCN1A	572	S	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S573R	False	False	False	False	False	P35498_572_R
Q13224	GRIN2B	1367	G	C	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G1368C	False	True	False	True	False	Q13224_1367_C
P20929	NEB	952	N	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N953K	False	False	False	False	False	P20929_952_K
Q99250	SCN2A	135	M	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M136R	False	False	False	False	False	Q99250_135_R
P12883	MYH7	868	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R869P	False	False	False	False	False	P12883_868_P
P20929	NEB	6221	C	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	C6222Y	False	False	True	True	False	P20929_6221_Y
P20929	NEB	1835	S	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S1836R	False	False	False	False	False	P20929_1835_R
Q14315	FLNC	1152	F	Y	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	F1153Y	False	False	False	False	False	Q14315_1152_Y
Q9UJ55	MAGEL2	1015	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.006405124099279423	MAGE-like protein 2 (Necdin-like protein 1) (Prote	P1016S	False	False	False	False	False	Q9UJ55_1015_S
Q14721	KCNB1	617	G	D	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G618D	False	False	False	False	False	Q14721_617_D
O00555	CACNA1A	1281	V	I	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1282I	False	False	False	False	False	O00555_1281_I
Q13496	MTM1	98	A	V	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	A99V	False	False	False	False	False	Q13496_98_V
O60313	OPA1	260	K	E	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	K261E	False	False	False	False	False	O60313_260_E
P20929	NEB	5652	M	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M5653L	False	False	False	False	False	P20929_5652_L
O75899	GABBR2	21	R	C	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R22C	True	True	False	True	True	O75899_21_C
Q5T481	RBM20	1140	D	N	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D1141N	False	False	False	False	False	Q5T481_1140_N
P20929	NEB	1602	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1603V	False	False	False	False	False	P20929_1602_V
O76039	CDKL5	888	I	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	I889S	False	False	False	False	False	O76039_888_S
Q8TAB3	PCDH19	343	P	A	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P344A	False	False	False	False	False	Q8TAB3_343_A
Q13224	GRIN2B	1387	I	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I1388V	False	False	False	False	False	Q13224_1387_V
Q99715	COL12A1	3039	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P3040L	False	False	False	False	False	Q99715_3039_L
P20929	NEB	674	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K675T	False	False	False	False	False	P20929_674_T
Q15526	SURF1	256	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	G257R	False	False	False	False	False	Q15526_256_R
P15924	DSP	2688	K	N	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K2689N	False	False	False	False	False	P15924_2688_N
O00555	CACNA1A	1216	M	T	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	M1217T	False	False	False	False	False	O00555_1216_T
P20929	NEB	995	I	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I996N	False	False	False	False	False	P20929_995_N
P20929	NEB	7467	E	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7468A	False	False	False	False	False	P20929_7467_A
O60313	OPA1	115	K	R	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	K116R	False	False	False	False	False	O60313_115_R
P20929	NEB	6879	P	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P6880H	False	False	False	False	False	P20929_6879_H
P35609	ACTN2	762	N	S	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	N763S	False	False	False	False	False	P35609_762_S
P15924	DSP	1729	E	Q	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E1730Q	False	False	False	False	False	P15924_1729_Q
P20929	NEB	727	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A728V	False	False	False	False	False	P20929_727_V
P05166	PCCB	390	F	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	F391S	False	False	False	False	False	P05166_390_S
P20929	NEB	7263	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D7264E	False	False	False	False	False	P20929_7263_E
P12111	COL6A3	2557	N	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	N2558S	False	False	False	False	False	P12111_2557_S
Q96N67	DOCK7	1424	S	F	0	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	S1425F	False	False	False	False	False	Q96N67_1424_F
P23378	GLDC	732	A	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A733S	False	False	False	False	False	P23378_732_S
Q96CU9	FOXRED1	230	V	D	0	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	V231D	False	False	False	False	False	Q96CU9_230_D
O43526	KCNQ2	234	A	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A235G	False	False	False	False	False	O43526_234_G
O00555	CACNA1A	51	M	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	M52V	False	False	False	False	False	O00555_51_V
P23378	GLDC	550	S	N	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	S551N	False	False	False	False	False	P23378_550_N
O75899	GABBR2	677	T	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T678S	False	False	False	False	False	O75899_677_S
P15924	DSP	1505	R	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1506K	False	False	False	False	False	P15924_1505_K
O75112	LDB3	161	G	D	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	G162D	False	False	False	False	False	O75112_161_D
P20929	NEB	3680	V	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V3681L	False	False	False	False	False	P20929_3680_L
Q00839	HNRNPU	150	G	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G151S	False	False	False	False	False	Q00839_150_S
Q00839	HNRNPU	162	P	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P163S	False	False	False	False	False	Q00839_162_S
Q15878	CACNA1E	2062	H	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	H2063Y	False	False	False	False	False	Q15878_2062_Y
Q13224	GRIN2B	1445	I	N	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I1446N	False	False	False	False	False	Q13224_1445_N
O76039	CDKL5	480	S	C	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	S481C	False	True	False	True	False	O76039_480_C
P36776	LONP1	493	M	T	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	M494T	False	False	False	False	False	P36776_493_T
P12109	COL6A1	345	K	R	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	K346R	False	False	False	False	False	P12109_345_R
P15924	DSP	2214	Q	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Q2215K	False	False	False	False	False	P15924_2214_K
Q96RR1	TWNK	353	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R354C	False	True	False	True	False	Q96RR1_353_C
P20929	NEB	3511	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K3512R	False	False	False	False	False	P20929_3511_R
Q9UJS0	SLC25A13	435	G	D	1	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	G436D	False	False	False	False	False	Q9UJS0_435_D
Q9Y375	NDUFAF1	246	P	A	0	ClinVar	criteria provided, single submitter	0.0030581039755351682	Complex I intermediate-associated protein 30, mito	P247A	False	False	False	False	False	Q9Y375_246_A
Q14721	KCNB1	774	P	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P775L	False	False	False	False	False	Q14721_774_L
P20929	NEB	1927	Y	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y1928S	False	False	False	False	False	P20929_1927_S
Q14721	KCNB1	630	G	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G631S	False	False	False	False	False	Q14721_630_S
P12110	COL6A2	739	D	N	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	D740N	False	False	False	False	False	P12110_739_N
P12111	COL6A3	2437	N	K	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	N2438K	False	False	False	False	False	P12111_2437_K
P20929	NEB	2403	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y2404C	False	True	False	True	False	P20929_2403_C
P20929	NEB	6005	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M6006T	False	False	False	False	False	P20929_6005_T
P20929	NEB	2053	A	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2054S	False	False	False	False	False	P20929_2053_S
P12111	COL6A3	1418	L	F	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	L1419F	False	False	False	False	False	P12111_1418_F
P12111	COL6A3	510	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A511T	False	False	False	False	False	P12111_510_T
P54098	POLG	1133	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	H1134Y	False	False	False	False	False	P54098_1133_Y
O95363	FARS2	278	I	V	0	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	I279V	False	False	False	False	False	O95363_278_V
P20929	NEB	5910	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D5911E	False	False	False	False	False	P20929_5910_E
Q5T481	RBM20	34	P	T	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P35T	True	False	False	False	True	Q5T481_34_T
P20929	NEB	3537	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R3538Q	False	False	False	False	False	P20929_3537_Q
Q13224	GRIN2B	1053	D	N	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D1054N	False	False	False	False	False	Q13224_1053_N
O60313	OPA1	38	S	G	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	S39G	True	False	False	False	True	O60313_38_G
P15924	DSP	2457	K	N	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K2458N	False	False	False	False	False	P15924_2457_N
P20929	NEB	7808	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7809Q	False	False	False	False	False	P20929_7808_Q
P35498	SCN1A	78	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D79G	False	False	False	False	False	P35498_78_G
Q99715	COL12A1	1738	G	C	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G1739C	False	True	False	True	False	Q99715_1738_C
P35498	SCN1A	1475	N	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1476Y	False	False	False	False	False	P35498_1475_Y
P20929	NEB	7365	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y7366H	False	False	False	False	False	P20929_7365_H
P20929	NEB	7996	R	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7997Q	False	False	False	False	False	P20929_7996_Q
O75899	GABBR2	300	R	C	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	R301C	False	True	False	True	False	O75899_300_C
Q13496	MTM1	0	M	T	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	M1T	True	False	False	False	True	Q13496_0_T
P12111	COL6A3	416	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P417L	False	False	False	False	False	P12111_416_L
P35609	ACTN2	740	Q	R	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	Q741R	False	False	False	False	False	P35609_740_R
Q6PI48	DARS2	331	K	E	1	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	K332E	False	False	False	False	False	Q6PI48_331_E
P20929	NEB	7193	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D7194N	False	False	False	False	False	P20929_7193_N
P15924	DSP	336	V	A	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V337A	False	False	False	False	False	P15924_336_A
P35498	SCN1A	394	A	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A395G	False	False	False	False	False	P35498_394_G
P12110	COL6A2	433	S	G	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	S434G	False	False	False	False	False	P12110_433_G
P36776	LONP1	643	T	I	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	T644I	False	False	False	False	False	P36776_643_I
P16389	KCNA2	113	R	Q	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R114Q	False	False	False	False	False	P16389_113_Q
P05165	PCCA	469	L	V	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	L470V	False	False	False	False	False	P05165_469_V
O75923	DYSF	1806	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017788461538461538	Dysferlin (Dystrophy-associated fer-1-like protein	R1807P	False	False	False	False	False	O75923_1806_P
Q99250	SCN2A	1489	M	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1490I	False	False	False	False	False	Q99250_1489_I
Q00839	HNRNPU	194	A	T	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A195T	False	False	False	False	False	Q00839_194_T
Q99250	SCN2A	1514	R	Q	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1515Q	False	False	False	False	False	Q99250_1514_Q
P20929	NEB	934	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L935F	False	False	False	False	False	P20929_934_F
P20929	NEB	7116	H	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H7117N	False	False	False	False	False	P20929_7116_N
O95831	AIFM1	543	P	S	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P544S	False	False	False	False	False	O95831_543_S
Q13224	GRIN2B	1429	V	A	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V1430A	False	False	False	False	False	Q13224_1429_A
P12883	MYH7	1878	K	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K1879R	False	False	False	False	False	P12883_1878_R
Q99715	COL12A1	401	I	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	I402N	False	False	False	False	False	Q99715_401_N
P20929	NEB	1939	L	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L1940M	False	False	False	False	False	P20929_1939_M
P21817	RYR1	2285	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L2286V	False	False	False	False	False	P21817_2285_V
Q96GW9	MARS2	467	R	L	0	ClinVar	criteria provided, single submitter	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	R468L	False	False	False	False	False	Q96GW9_467_L
P20929	NEB	271	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V272M	False	False	False	False	False	P20929_271_M
P20929	NEB	1418	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1419T	False	False	False	False	False	P20929_1418_T
Q99715	COL12A1	1966	V	M	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V1967M	False	False	False	False	False	Q99715_1966_M
Q9NZC7	WWOX	0	M	L	1	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	M1L	True	False	False	False	True	Q9NZC7_0_L
Q5T481	RBM20	1069	G	E	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G1070E	False	False	False	False	False	Q5T481_1069_E
P20929	NEB	1998	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1999V	False	False	False	False	False	P20929_1998_V
P20929	NEB	8256	L	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L8257I	False	False	False	False	False	P20929_8256_I
O43526	KCNQ2	200	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R201G	False	False	False	False	False	O43526_200_G
Q9BW92	TARS2	683	R	Q	1	ClinVar	no assertion criteria provided	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	R684Q	False	False	False	False	False	Q9BW92_683_Q
Q9BW92	TARS2	154	P	L	1	ClinVar	no assertion criteria provided	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	P155L	False	False	False	False	False	Q9BW92_154_L
Q9BW92	TARS2	439	E	K	1	ClinVar	no assertion criteria provided	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	E440K	False	False	False	False	False	Q9BW92_439_K
Q9BW92	TARS2	326	R	Q	1	ClinVar	no assertion criteria provided	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	R327Q	False	False	False	False	False	Q9BW92_326_Q
Q9BW92	TARS2	418	R	W	1	ClinVar	no assertion criteria provided	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	R419W	False	False	False	False	False	Q9BW92_418_W
P09471	GNAO1	304	Q	R	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Q305R	False	False	False	False	False	P09471_304_R
P35498	SCN1A	1595	R	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1596S	False	False	False	False	False	P35498_1595_S
P35498	SCN1A	789	Y	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y790N	False	False	False	False	False	P35498_789_N
O00555	CACNA1A	61	Y	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y62H	False	False	False	False	False	O00555_61_H
O75112	LDB3	166	S	N	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	S167N	False	False	False	False	False	O75112_166_N
P20929	NEB	7237	D	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D7238N	False	False	False	False	False	P20929_7237_N
Q13224	GRIN2B	850	M	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M851T	False	False	False	False	False	Q13224_850_T
Q9UQD0	SCN8A	980	S	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S981I	False	False	False	False	False	Q9UQD0_980_I
O75899	GABBR2	642	P	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	P643S	False	False	False	False	False	O75899_642_S
P61764	STXBP1	174	Q	P	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Q175P	False	False	False	False	False	P61764_174_P
P21912	SDHB	73	D	G	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	D74G	False	False	False	True	False	P21912_73_G
P35498	SCN1A	991	L	M	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L992M	False	False	False	False	False	P35498_991_M
P20929	NEB	470	F	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F471L	False	False	False	False	False	P20929_470_L
Q13224	GRIN2B	1322	S	N	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S1323N	False	False	False	False	False	Q13224_1322_N
Q13224	GRIN2B	1321	V	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V1322L	False	False	False	False	False	Q13224_1321_L
P20929	NEB	8307	V	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V8308A	False	False	False	False	False	P20929_8307_A
P20929	NEB	6352	P	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P6353S	False	False	False	False	False	P20929_6352_S
P19429	TNNI3	169	R	P	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R170P	False	False	False	False	False	P19429_169_P
Q13224	GRIN2B	1027	P	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1028S	False	False	False	False	False	Q13224_1027_S
P23378	GLDC	715	L	F	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L716F	False	False	False	False	False	P23378_715_F
P12883	MYH7	815	W	C	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	W816C	False	True	False	True	False	P12883_815_C
P12111	COL6A3	541	G	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G542R	False	False	False	False	False	P12111_541_R
P35498	SCN1A	410	S	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S411L	False	False	False	False	False	P35498_410_L
Q9UQD0	SCN8A	1644	M	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1645R	False	False	False	False	False	Q9UQD0_1644_R
O43526	KCNQ2	561	Y	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y562N	False	False	False	False	False	O43526_561_N
O75112	LDB3	156	E	G	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	E157G	False	False	False	False	False	O75112_156_G
P35498	SCN1A	1308	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1309P	False	False	False	False	False	P35498_1308_P
P68133	ACTA1	264	Q	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Q265R	False	False	False	False	False	P68133_264_R
Q99250	SCN2A	1550	E	A	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E1551A	False	False	False	False	False	Q99250_1550_A
P12111	COL6A3	3062	R	K	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R3063K	False	False	False	False	False	P12111_3062_K
P08559	PDHA1	217	C	Y	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	C218Y	False	False	True	True	False	P08559_217_Y
Q9UQD0	SCN8A	1938	P	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	P1939L	False	False	False	False	False	Q9UQD0_1938_L
Q9Y4W6	AFG3L2	664	G	R	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G665R	False	False	False	False	False	Q9Y4W6_664_R
P68032	ACTC1	193	I	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	I194N	False	False	False	False	False	P68032_193_N
Q96RR1	TWNK	333	R	L	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R334L	False	False	False	False	False	Q96RR1_333_L
O95140	MFN2	234	Q	H	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	Q235H	False	False	False	False	False	O95140_234_H
Q14721	KCNB1	333	L	F	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L334F	False	False	False	False	False	Q14721_333_F
Q14721	KCNB1	466	K	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K467N	False	False	False	False	False	Q14721_466_N
P61764	STXBP1	0	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M1R	True	False	False	False	True	P61764_0_R
P68133	ACTA1	358	I	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	I359V	False	False	False	False	False	P68133_358_V
P35498	SCN1A	1586	E	Q	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1587Q	False	False	False	False	False	P35498_1586_Q
O14647	CHD2	1129	G	R	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G1130R	False	False	False	False	False	O14647_1129_R
Q13224	GRIN2B	375	V	M	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V376M	False	False	False	False	False	Q13224_375_M
P20929	NEB	2733	V	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V2734L	False	False	False	False	False	P20929_2733_L
Q99250	SCN2A	1623	L	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1624P	False	False	False	False	False	Q99250_1623_P
P48728	AMT	295	R	G	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R296G	False	False	False	False	False	P48728_295_G
Q14721	KCNB1	683	L	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L684H	False	False	False	False	False	Q14721_683_H
Q00839	HNRNPU	780	N	T	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N781T	False	False	False	False	False	Q00839_780_T
Q00839	HNRNPU	26	D	E	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	D27E	True	False	False	False	True	Q00839_26_E
P35498	SCN1A	757	K	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	K758T	False	False	False	False	False	P35498_757_T
Q13224	GRIN2B	905	K	R	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	K906R	False	False	False	False	False	Q13224_905_R
O43526	KCNQ2	546	R	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R547L	False	False	False	False	False	O43526_546_L
O75112	LDB3	174	E	K	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	E175K	False	False	False	False	False	O75112_174_K
Q9NZV8	KCND2	365	V	F	1	ClinVar	criteria provided, single submitter	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	V366F	False	False	False	False	False	Q9NZV8_365_F
P35498	SCN1A	1911	R	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1912G	False	False	False	False	False	P35498_1911_G
O60741	HCN1	302	G	V	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G303V	False	False	False	False	False	O60741_302_V
P35498	SCN1A	234	T	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T235A	False	False	False	False	False	P35498_234_A
P35498	SCN1A	1855	M	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1856R	False	False	False	False	False	P35498_1855_R
Q14721	KCNB1	650	S	G	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S651G	False	False	False	False	False	Q14721_650_G
P20929	NEB	928	D	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D929G	False	False	False	False	False	P20929_928_G
O75112	LDB3	205	T	A	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	T206A	False	False	False	False	False	O75112_205_A
P12111	COL6A3	870	E	G	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	E871G	False	False	False	False	False	P12111_870_G
P15924	DSP	2654	A	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A2655S	False	False	False	False	False	P15924_2654_S
O60741	HCN1	386	A	T	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A387T	False	False	False	False	False	O60741_386_T
Q14721	KCNB1	311	R	P	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R312P	False	False	False	False	False	Q14721_311_P
P35498	SCN1A	1635	R	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1636G	False	False	False	False	False	P35498_1635_G
P35498	SCN1A	350	C	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C351G	False	False	True	True	False	P35498_350_G
Q99250	SCN2A	481	V	G	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V482G	False	False	False	False	False	Q99250_481_G
P35498	SCN1A	953	E	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E954G	False	False	False	False	False	P35498_953_G
P35498	SCN1A	242	S	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S243P	False	False	False	False	False	P35498_242_P
P15924	DSP	1596	E	A	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E1597A	False	False	False	False	False	P15924_1596_A
Q99250	SCN2A	1810	Q	H	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1811H	False	False	False	False	False	Q99250_1810_H
P20929	NEB	553	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y554C	False	True	False	True	False	P20929_553_C
P35498	SCN1A	973	M	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M974R	False	False	False	False	False	P35498_973_R
P54098	POLG	888	A	V	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	A889V	False	False	False	False	False	P54098_888_V
P35498	SCN1A	80	D	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D81V	False	False	False	False	False	P35498_80_V
O43526	KCNQ2	219	L	M	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L220M	False	False	False	False	False	O43526_219_M
O00555	CACNA1A	900	S	W	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S901W	False	False	False	False	False	O00555_900_W
Q5T481	RBM20	6	M	R	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	M7R	True	False	False	False	True	Q5T481_6_R
P35609	ACTN2	754	M	T	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	M755T	False	False	False	False	False	P35609_754_T
Q99250	SCN2A	1639	I	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1640L	False	False	False	False	False	Q99250_1639_L
O00555	CACNA1A	61	Y	N	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y62N	False	False	False	False	False	O00555_61_N
P23378	GLDC	351	T	I	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T352I	False	False	False	False	False	P23378_351_I
Q99250	SCN2A	1635	I	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1636N	False	False	False	False	False	Q99250_1635_N
Q5T481	RBM20	121	Q	L	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	Q122L	False	False	False	False	False	Q5T481_121_L
P55072	VCP	127	G	S	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	G128S	False	False	False	False	False	P55072_127_S
Q99250	SCN2A	977	F	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F978L	False	False	False	False	False	Q99250_977_L
P05166	PCCB	278	P	S	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	P279S	False	False	False	False	False	P05166_278_S
P35498	SCN1A	80	D	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D81Y	False	False	False	False	False	P35498_80_Y
P05166	PCCB	58	H	N	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	H59N	False	False	False	False	False	P05166_58_N
Q13224	GRIN2B	965	V	E	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V966E	False	False	False	False	False	Q13224_965_E
P35498	SCN1A	1327	S	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1328A	False	False	False	False	False	P35498_1327_A
Q14721	KCNB1	657	K	R	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K658R	False	False	False	False	False	Q14721_657_R
P12109	COL6A1	816	D	G	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D817G	False	False	False	False	False	P12109_816_G
Q13224	GRIN2B	817	M	K	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M818K	False	False	False	False	False	Q13224_817_K
P35498	SCN1A	1230	S	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1231I	False	False	False	False	False	P35498_1230_I
P35498	SCN1A	251	I	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I252L	False	False	False	False	False	P35498_251_L
Q99250	SCN2A	1320	E	Q	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E1321Q	False	False	False	False	False	Q99250_1320_Q
P35498	SCN1A	872	W	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W873S	False	False	False	False	False	P35498_872_S
O00555	CACNA1A	954	H	Q	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	H955Q	False	False	False	False	False	O00555_954_Q
P35498	SCN1A	1716	L	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1717R	False	False	False	False	False	P35498_1716_R
P25705	ATP5F1A	173	L	V	0	ClinVar	criteria provided, single submitter	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	L174V	False	False	False	False	False	P25705_173_V
O00555	CACNA1A	1677	R	S	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1678S	False	False	False	False	False	O00555_1677_S
P20929	NEB	1517	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I1518V	False	False	False	False	False	P20929_1517_V
Q14721	KCNB1	733	P	R	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P734R	False	False	False	False	False	Q14721_733_R
P20929	NEB	2102	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K2103R	False	False	False	False	False	P20929_2102_R
O75112	LDB3	108	P	S	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P109S	False	False	False	False	False	O75112_108_S
C9JR72	KBTBD13	408	M	L	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	M409L	False	False	False	True	False	C9JR72_408_L
P11498	PC	1152	M	V	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	M1153V	False	False	False	False	False	P11498_1152_V
P20929	NEB	641	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	T642A	False	False	False	False	False	P20929_641_A
P09622	DLD	303	I	T	0	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	I304T	False	False	False	False	False	P09622_303_T
P12110	COL6A2	718	R	Q	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	R719Q	False	False	False	False	False	P12110_718_Q
P35498	SCN1A	1321	R	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1322S	False	False	False	False	False	P35498_1321_S
P20929	NEB	2764	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2765T	False	False	False	False	False	P20929_2764_T
Q9NP73	ALG13	768	R	W	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	R769W	False	False	False	False	False	Q9NP73_768_W
Q9BW60	ELOVL1	4	V	M	0	ClinVar	criteria provided, single submitter	0.007168458781362007	Very long chain fatty acid elongase 1 (EC 2.3.1.19	V5M	True	False	False	False	True	Q9BW60_4_M
Q00839	HNRNPU	602	A	T	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A603T	False	False	False	False	False	Q00839_602_T
Q96QS3	ARX	210	P	R	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	P211R	False	False	False	False	False	Q96QS3_210_R
O75112	LDB3	169	A	T	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	A170T	False	False	False	False	False	O75112_169_T
P12883	MYH7	709	P	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	P710S	False	False	False	False	False	P12883_709_S
P15924	DSP	2131	G	E	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	G2132E	False	False	False	False	False	P15924_2131_E
P20929	NEB	7118	C	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	C7119Y	False	False	True	True	False	P20929_7118_Y
O75899	GABBR2	684	A	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A685V	False	False	False	False	False	O75899_684_V
P20929	NEB	3004	N	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N3005K	False	False	False	False	False	P20929_3004_K
P20929	NEB	6274	Q	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q6275E	False	False	False	False	False	P20929_6274_E
P20929	NEB	1451	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I1452T	False	False	False	False	False	P20929_1451_T
P20929	NEB	6351	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T6352M	False	False	False	False	False	P20929_6351_M
P20929	NEB	6285	I	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I6286M	False	False	False	False	False	P20929_6285_M
Q13224	GRIN2B	1461	P	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	P1462H	False	False	False	False	False	Q13224_1461_H
P20929	NEB	2708	V	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V2709G	False	False	False	False	False	P20929_2708_G
O75899	GABBR2	488	T	I	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T489I	False	False	False	False	False	O75899_488_I
O76039	CDKL5	721	R	C	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R722C	False	True	False	True	False	O76039_721_C
P15924	DSP	749	F	L	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	F750L	False	False	False	False	False	P15924_749_L
P20929	NEB	7907	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T7908M	False	False	False	False	False	P20929_7907_M
P61764	STXBP1	567	G	R	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G568R	False	False	False	False	False	P61764_567_R
P20929	NEB	6566	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H6567R	False	False	False	False	False	P20929_6566_R
P20929	NEB	7577	H	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H7578D	False	False	False	False	False	P20929_7577_D
P36776	LONP1	720	R	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R721Q	False	False	False	False	False	P36776_720_Q
P20929	NEB	1287	A	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1288S	False	False	False	False	False	P20929_1287_S
P55072	VCP	88	R	Q	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R89Q	False	False	False	False	False	P55072_88_Q
P20929	NEB	8058	R	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R8059G	False	False	False	False	False	P20929_8058_G
P20929	NEB	7302	T	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T7303M	False	False	False	False	False	P20929_7302_M
Q9HCM3	KIAA1549	225	A	S	0	ClinVar	criteria provided, single submitter	0.0056410256410256415	UPF0606 protein KIAA1549	A226S	False	False	False	False	False	Q9HCM3_225_S
O14647	CHD2	1613	P	T	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	P1614T	False	False	False	False	False	O14647_1613_T
P12109	COL6A1	305	S	R	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S306R	False	False	False	False	False	P12109_305_R
O14647	CHD2	1151	R	Q	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1152Q	False	False	False	False	False	O14647_1151_Q
P36776	LONP1	737	T	M	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	T738M	False	False	False	False	False	P36776_737_M
P20929	NEB	8222	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S8223N	False	False	False	False	False	P20929_8222_N
P20929	NEB	5873	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E5874K	False	False	False	False	False	P20929_5873_K
P11498	PC	17	R	Q	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R18Q	True	False	False	False	True	P11498_17_Q
Q8NCM2	KCNH5	876	K	R	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	K877R	False	False	False	False	False	Q8NCM2_876_R
P61764	STXBP1	429	A	S	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A430S	False	False	False	False	False	P61764_429_S
P20929	NEB	3237	N	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N3238I	False	False	False	False	False	P20929_3237_I
Q15031	LARS2	729	E	A	0	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	E730A	False	False	False	False	False	Q15031_729_A
Q9Y4W6	AFG3L2	709	K	I	0	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	K710I	False	False	False	False	False	Q9Y4W6_709_I
Q5T481	RBM20	512	R	W	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R513W	False	False	False	False	False	Q5T481_512_W
P53597	SUCLG1	39	H	R	0	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	H40R	True	False	False	False	True	P53597_39_R
P12109	COL6A1	614	D	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D615N	False	False	False	False	False	P12109_614_N
P20929	NEB	2117	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D2118N	False	False	False	False	False	P20929_2117_N
P20929	NEB	3503	D	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D3504G	False	False	False	False	False	P20929_3503_G
P20929	NEB	7143	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7144R	False	False	False	False	False	P20929_7143_R
O00555	CACNA1A	2077	S	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S2078G	False	False	False	False	False	O00555_2077_G
P20929	NEB	7604	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7605K	False	False	False	False	False	P20929_7604_K
P68133	ACTA1	306	M	R	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M307R	False	False	False	False	False	P68133_306_R
P35609	ACTN2	579	N	D	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	N580D	False	False	False	False	False	P35609_579_D
P20929	NEB	7537	K	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7538M	False	False	False	False	False	P20929_7537_M
P20929	NEB	2316	G	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G2317A	False	False	False	False	False	P20929_2316_A
P49792	RANBP2	2434	I	V	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	I2435V	False	False	False	False	False	P49792_2434_V
P12111	COL6A3	1463	R	Q	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R1464Q	False	False	False	False	False	P12111_1463_Q
P20929	NEB	8044	L	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L8045R	False	False	False	False	False	P20929_8044_R
Q99715	COL12A1	648	K	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	K649Q	False	False	False	False	False	Q99715_648_Q
P35498	SCN1A	172	I	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I173F	False	False	False	False	False	P35498_172_F
Q96I59	NARS2	263	S	C	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	S264C	False	True	False	True	False	Q96I59_263_C
Q5T481	RBM20	423	L	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	L424S	False	False	False	False	False	Q5T481_423_S
O60741	HCN1	780	R	G	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R781G	False	False	False	False	False	O60741_780_G
P20929	NEB	1875	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L1876F	False	False	False	False	False	P20929_1875_F
Q96GW9	MARS2	152	V	M	0	ClinVar	criteria provided, single submitter	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	V153M	False	False	False	False	False	Q96GW9_152_M
P20929	NEB	716	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y717C	False	True	False	True	False	P20929_716_C
P15924	DSP	1520	A	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A1521V	False	False	False	False	False	P15924_1520_V
P61764	STXBP1	167	I	V	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I168V	False	False	False	False	False	P61764_167_V
P05166	PCCB	390	F	C	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	F391C	False	True	False	True	False	P05166_390_C
P20929	NEB	6102	S	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S6103I	False	False	False	False	False	P20929_6102_I
Q00839	HNRNPU	456	F	L	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	F457L	False	False	False	False	False	Q00839_456_L
P12111	COL6A3	188	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A189T	False	False	False	False	False	P12111_188_T
P12111	COL6A3	2593	D	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	D2594N	False	False	False	False	False	P12111_2593_N
Q96QS3	ARX	4	Y	F	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	Y5F	True	False	False	False	True	Q96QS3_4_F
P20929	NEB	94	L	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L95I	False	False	False	False	False	P20929_94_I
O00555	CACNA1A	1429	A	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1430V	False	False	False	False	False	O00555_1429_V
P35498	SCN1A	1414	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1415L	False	False	False	False	False	P35498_1414_L
P11498	PC	383	A	V	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A384V	False	False	False	False	False	P11498_383_V
P49792	RANBP2	2556	N	D	0	ClinVar	criteria provided, single submitter	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	N2557D	False	False	False	False	False	P49792_2556_D
O95363	FARS2	414	R	H	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	R415H	False	False	False	False	False	O95363_414_H
Q99715	COL12A1	1658	T	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T1659A	False	False	False	False	False	Q99715_1658_A
Q5JTZ9	AARS2	15	I	V	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	I16V	True	False	False	False	True	Q5JTZ9_15_V
P05166	PCCB	326	R	H	0	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R327H	False	False	False	False	False	P05166_326_H
P20929	NEB	2972	D	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D2973A	False	False	False	False	False	P20929_2972_A
P20929	NEB	7329	H	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H7330D	False	False	False	False	False	P20929_7329_D
P35498	SCN1A	1707	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1708K	False	False	False	False	False	P35498_1707_K
Q9Y2Z4	YARS2	243	G	A	1	ClinVar	criteria provided, single submitter	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	G244A	False	False	False	False	False	Q9Y2Z4_243_A
P20929	NEB	1090	D	Y	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	D1091Y	False	False	False	False	False	P20929_1090_Y
Q00577	PURA	307	A	V	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	A308V	False	False	False	False	False	Q00577_307_V
P12109	COL6A1	111	A	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A112S	False	False	False	False	False	P12109_111_S
Q14721	KCNB1	698	G	E	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G699E	False	False	False	False	False	Q14721_698_E
O75112	LDB3	211	Q	L	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	Q212L	False	False	False	False	False	O75112_211_L
P20929	NEB	1395	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1396V	False	False	False	False	False	P20929_1395_V
P20929	NEB	3452	T	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T3453R	False	False	False	False	False	P20929_3452_R
P20929	NEB	2960	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M2961V	False	False	False	False	False	P20929_2960_V
P20929	NEB	7344	S	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S7345T	False	False	False	False	False	P20929_7344_T
Q99715	COL12A1	13	A	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A14V	True	False	False	False	True	Q99715_13_V
P20929	NEB	6641	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A6642V	False	False	False	False	False	P20929_6641_V
Q14721	KCNB1	776	S	I	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S777I	False	False	False	False	False	Q14721_776_I
O75112	LDB3	194	Y	C	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	Y195C	False	True	False	True	False	O75112_194_C
P48728	AMT	362	G	S	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	G363S	False	False	False	False	False	P48728_362_S
Q9Y276	BCS1L	357	H	Q	0	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	H358Q	False	False	False	False	False	Q9Y276_357_Q
P20929	NEB	2484	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D2485N	False	False	False	False	False	P20929_2484_N
P20929	NEB	3006	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E3007K	False	False	False	False	False	P20929_3006_K
P35498	SCN1A	517	D	E	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D518E	False	False	False	False	False	P35498_517_E
Q13224	GRIN2B	104	Q	E	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	Q105E	False	False	False	False	False	Q13224_104_E
P12111	COL6A3	1248	Q	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	Q1249H	False	False	False	False	False	P12111_1248_H
Q05193	DNM1	214	D	V	0	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	D215V	False	False	False	False	False	Q05193_214_V
Q05639	EEF1A2	130	G	R	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	G131R	False	False	False	False	False	Q05639_130_R
O75899	GABBR2	647	C	Y	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	C648Y	False	False	True	True	False	O75899_647_Y
P15924	DSP	28	E	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E29K	True	False	False	False	True	P15924_28_K
Q5JPH6	EARS2	306	L	S	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	L307S	False	False	False	False	False	Q5JPH6_306_S
P23378	GLDC	283	H	N	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H284N	False	False	False	False	False	P23378_283_N
P12110	COL6A2	681	D	N	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	D682N	False	False	False	False	False	P12110_681_N
P15924	DSP	1225	M	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	M1226V	False	False	False	False	False	P15924_1225_V
P20929	NEB	1009	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A1010T	False	False	False	False	False	P20929_1009_T
Q15878	CACNA1E	402	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	G403A	False	False	False	False	False	Q15878_402_A
P20929	NEB	5722	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T5723I	False	False	False	False	False	P20929_5722_I
P15924	DSP	1301	R	L	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1302L	False	False	False	False	False	P15924_1301_L
P35498	SCN1A	1652	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1653V	False	False	False	False	False	P35498_1652_V
O43526	KCNQ2	621	R	P	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R622P	False	False	False	False	False	O43526_621_P
P35498	SCN1A	1231	S	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1232R	False	False	False	False	False	P35498_1231_R
P12109	COL6A1	157	D	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D158N	False	False	False	False	False	P12109_157_N
P20929	NEB	3261	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A3262T	False	False	False	False	False	P20929_3261_T
P35498	SCN1A	1348	N	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1349T	False	False	False	False	False	P35498_1348_T
P16389	KCNA2	243	C	R	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	C244R	False	False	True	True	False	P16389_243_R
Q99250	SCN2A	1672	I	T	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1673T	False	False	False	False	False	Q99250_1672_T
P12111	COL6A3	426	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I427V	False	False	False	False	False	P12111_426_V
Q13224	GRIN2B	1314	A	T	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1315T	False	False	False	False	False	Q13224_1314_T
P35498	SCN1A	236	V	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V237L	False	False	False	False	False	P35498_236_L
P20929	NEB	7106	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y7107C	False	True	False	True	False	P20929_7106_C
Q99250	SCN2A	1337	M	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1338V	False	False	False	False	False	Q99250_1337_V
P35498	SCN1A	1213	I	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1214K	False	False	False	False	False	P35498_1213_K
O43526	KCNQ2	211	D	N	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D212N	False	False	False	False	False	O43526_211_N
P23378	GLDC	762	G	C	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G763C	False	True	False	True	False	P23378_762_C
P12111	COL6A3	931	A	P	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A932P	False	False	False	False	False	P12111_931_P
P16389	KCNA2	121	A	V	0	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	A122V	False	False	False	False	False	P16389_121_V
P12110	COL6A2	458	V	I	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	V459I	False	False	False	False	False	P12110_458_I
Q96RR1	TWNK	358	A	V	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A359V	False	False	False	False	False	Q96RR1_358_V
P28472	GABRB3	51	L	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L52V	False	False	False	False	False	P28472_51_V
P49821	NDUFV1	381	C	Y	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	C382Y	False	False	True	True	False	P49821_381_Y
Q8NCM2	KCNH5	790	D	N	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	D791N	False	False	False	False	False	Q8NCM2_790_N
P45379	TNNT2	106	K	N	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	K107N	False	False	False	False	False	P45379_106_N
P19429	TNNI3	174	Q	P	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	Q175P	False	False	False	False	False	P19429_174_P
P15924	DSP	1830	R	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1831K	False	False	False	False	False	P15924_1830_K
Q5T481	RBM20	1091	T	I	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	T1092I	False	False	False	False	False	Q5T481_1091_I
P20929	NEB	1377	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1378R	False	False	False	False	False	P20929_1377_R
O75899	GABBR2	691	I	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I692T	False	False	False	False	False	O75899_691_T
Q99250	SCN2A	989	N	K	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N990K	False	False	False	False	False	Q99250_989_K
Q00577	PURA	0	M	I	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	M1I	True	False	False	False	True	Q00577_0_I
P23378	GLDC	149	N	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	N150K	False	False	False	False	False	P23378_149_K
P35498	SCN1A	950	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E951K	False	False	False	False	False	P35498_950_K
P20929	NEB	8379	H	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H8380Q	False	False	False	False	False	P20929_8379_Q
O75112	LDB3	192	R	K	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	R193K	False	False	False	False	False	O75112_192_K
P20929	NEB	85	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I86T	False	False	False	False	False	P20929_85_T
P17661	DES	405	R	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	R406P	False	False	False	False	False	P17661_405_P
O95571	ETHE1	135	T	S	1	ClinVar	criteria provided, single submitter	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	T136S	False	False	False	True	False	O95571_135_S
P35498	SCN1A	886	V	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V887E	False	False	False	False	False	P35498_886_E
P45379	TNNT2	148	R	G	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R149G	False	False	False	False	False	P45379_148_G
O75899	GABBR2	419	G	R	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	G420R	False	False	False	False	False	O75899_419_R
P35498	SCN1A	1389	V	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1390A	False	False	False	False	False	P35498_1389_A
Q00839	HNRNPU	175	Q	H	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	Q176H	False	False	False	False	False	Q00839_175_H
Q00839	HNRNPU	418	L	F	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	L419F	False	False	False	False	False	Q00839_418_F
Q99250	SCN2A	1486	D	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	D1487V	False	False	False	False	False	Q99250_1486_V
Q14721	KCNB1	400	G	A	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G401A	False	False	False	False	False	Q14721_400_A
P16389	KCNA2	293	R	P	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	R294P	False	False	False	False	False	P16389_293_P
P20929	NEB	2101	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y2102C	False	True	False	True	False	P20929_2101_C
Q14721	KCNB1	202	T	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	T203S	False	False	False	False	False	Q14721_202_S
O60741	HCN1	879	D	E	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	D880E	False	False	False	False	False	O60741_879_E
C9JR72	KBTBD13	126	L	V	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	L127V	False	False	False	True	False	C9JR72_126_V
O75899	GABBR2	816	Q	P	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	Q817P	False	False	False	False	False	O75899_816_P
Q13224	GRIN2B	540	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S541R	False	False	False	False	False	Q13224_540_R
P35498	SCN1A	853	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G854E	False	False	False	False	False	P35498_853_E
Q13224	GRIN2B	539	R	C	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R540C	False	True	False	True	False	Q13224_539_C
Q8NCM2	KCNH5	726	G	H	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	G727H	False	False	False	False	False	Q8NCM2_726_H
Q99250	SCN2A	250	V	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V251F	False	False	False	False	False	Q99250_250_F
Q9UQD0	SCN8A	755	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D756N	False	False	False	False	False	Q9UQD0_755_N
C9JR72	KBTBD13	20	D	A	0	ClinVar	criteria provided, single submitter	0.03056768558951965	Kelch repeat and BTB domain-containing protein 13	D21A	True	False	False	True	True	C9JR72_20_A
O00555	CACNA1A	2255	M	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	M2256V	False	False	False	False	False	O00555_2255_V
P20929	NEB	272	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S273N	False	False	False	False	False	P20929_272_N
Q5T481	RBM20	912	E	V	1	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	E913V	False	False	False	False	False	Q5T481_912_V
O60741	HCN1	194	R	S	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	R195S	False	False	False	False	False	O60741_194_S
P23378	GLDC	346	R	K	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R347K	False	False	False	False	False	P23378_346_K
O75899	GABBR2	401	A	T	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A402T	False	False	False	False	False	O75899_401_T
P61764	STXBP1	438	I	N	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I439N	False	False	False	False	False	P61764_438_N
P61764	STXBP1	544	V	M	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	V545M	False	False	False	False	False	P61764_544_M
O43526	KCNQ2	239	F	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F240V	False	False	False	False	False	O43526_239_V
P20929	NEB	8346	D	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D8347H	False	False	False	False	False	P20929_8346_H
O43526	KCNQ2	187	Q	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Q188R	False	False	False	False	False	O43526_187_R
P20929	NEB	1235	K	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1236N	False	False	False	False	False	P20929_1235_N
O75112	LDB3	148	P	S	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	P149S	False	False	False	False	False	O75112_148_S
O76039	CDKL5	154	G	S	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G155S	False	False	False	False	False	O76039_154_S
P68133	ACTA1	281	N	H	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N282H	False	False	False	False	False	P68133_281_H
Q13224	GRIN2B	542	G	R	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G543R	False	False	False	False	False	Q13224_542_R
O76039	CDKL5	828	L	V	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L829V	False	False	False	False	False	O76039_828_V
P61764	STXBP1	469	E	K	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	E470K	False	False	False	False	False	P61764_469_K
P23378	GLDC	372	R	P	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R373P	False	False	False	False	False	P23378_372_P
O00555	CACNA1A	919	A	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A920V	False	False	False	False	False	O00555_919_V
Q9NP73	ALG13	917	L	P	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	L918P	False	False	False	False	False	Q9NP73_917_P
P12111	COL6A3	70	V	M	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	V71M	False	False	False	False	False	P12111_70_M
P35498	SCN1A	935	D	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D936A	False	False	False	False	False	P35498_935_A
P12883	MYH7	300	L	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L301R	False	False	False	False	False	P12883_300_R
P35498	SCN1A	1413	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1414K	False	False	False	False	False	P35498_1413_K
P35498	SCN1A	405	V	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V406A	False	False	False	False	False	P35498_405_A
Q99715	COL12A1	2806	R	C	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R2807C	False	True	False	True	False	Q99715_2806_C
P15924	DSP	596	S	P	1	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	S597P	False	False	False	False	False	P15924_596_P
P35498	SCN1A	77	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E78K	False	False	False	False	False	P35498_77_K
Q13224	GRIN2B	1340	E	Q	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	E1341Q	False	False	False	False	False	Q13224_1340_Q
O00429	DNM1L	38	S	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	S39N	True	False	False	False	True	O00429_38_N
Q5ST30	VARS2	900	R	Q	0	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R901Q	False	False	False	False	False	Q5ST30_900_Q
Q5JTZ9	AARS2	827	I	T	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	I828T	False	False	False	False	False	Q5JTZ9_827_T
Q5T440	IBA57	227	V	I	0	ClinVar	criteria provided, single submitter	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	V228I	False	False	False	False	False	Q5T440_227_I
P42704	LRPPRC	764	Q	H	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	Q765H	False	False	False	False	False	P42704_764_H
Q96I59	NARS2	472	H	N	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	H473N	False	False	False	False	False	Q96I59_472_N
O75489	NDUFS3	0	M	I	1	ClinVar	criteria provided, single submitter	0.007575757575757576	NADH dehydrogenase [ubiquinone] iron-sulfur protei	M1I	True	False	False	False	True	O75489_0_I
Q96RP9	GFM1	348	N	S	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	N349S	False	False	False	False	False	Q96RP9_348_S
Q00059	TFAM	207	E	K	0	ClinVar	criteria provided, single submitter	0.016260162601626018	Transcription factor A, mitochondrial (mtTFA) (Mit	E208K	False	False	False	False	False	Q00059_207_K
Q16795	NDUFA9	200	V	I	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	V201I	False	False	False	False	False	Q16795_200_I
Q9UJS0	SLC25A13	176	R	K	0	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	R177K	False	False	False	False	False	Q9UJS0_176_K
Q9BW92	TARS2	472	Q	R	0	ClinVar	criteria provided, single submitter	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	Q473R	False	False	False	False	False	Q9BW92_472_R
Q6PI48	DARS2	404	N	K	0	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	N405K	False	False	False	False	False	Q6PI48_404_K
Q5ST30	VARS2	489	R	Q	0	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	R490Q	False	False	False	False	False	Q5ST30_489_Q
P42704	LRPPRC	424	A	V	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A425V	False	False	False	False	False	P42704_424_V
Q5JTZ9	AARS2	0	M	T	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	M1T	True	False	False	False	True	Q5JTZ9_0_T
Q9H3T3	SEMA6B	655	E	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021396396396396396	Semaphorin-6B (Semaphorin-Z) (Sema Z)	E656G	False	False	False	False	False	Q9H3T3_655_G
O75208	COQ9	28	R	Q	0	ClinVar	criteria provided, single submitter	0.009433962264150943	Ubiquinone biosynthesis protein COQ9, mitochondria	R29Q	True	False	False	False	True	O75208_28_Q
Q9H3T3	SEMA6B	684	M	V	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.021396396396396396	Semaphorin-6B (Semaphorin-Z) (Sema Z)	M685V	False	False	False	False	False	Q9H3T3_684_V
Q5JPH6	EARS2	364	N	S	0	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	N365S	False	False	False	False	False	Q5JPH6_364_S
Q99807	COQ7	4	G	R	0	ClinVar	criteria provided, single submitter	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	G5R	True	False	False	False	True	Q99807_4_R
Q9Y4W6	AFG3L2	40	R	Q	0	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R41Q	True	False	False	False	True	Q9Y4W6_40_Q
Q96JX3	SERAC1	25	H	Y	0	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	H26Y	True	False	False	False	True	Q96JX3_25_Y
Q5T440	IBA57	2	T	A	0	ClinVar	criteria provided, single submitter	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	T3A	True	False	False	False	True	Q5T440_2_A
Q9NSE4	IARS2	673	H	D	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	H674D	False	False	False	False	False	Q9NSE4_673_D
P21817	RYR1	4829	S	P	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	S4830P	False	False	False	False	False	P21817_4829_P
O95831	AIFM1	247	G	S	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G248S	False	False	False	False	False	O95831_247_S
Q5TEU4	NDUFAF5	260	M	R	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M261R	False	False	False	False	False	Q5TEU4_260_R
P20929	NEB	3989	D	A	1	ClinVar	no assertion criteria provided	0.00809384164222874	Nebulin	D3990A	False	False	False	False	False	P20929_3989_A
Q96PR1	KCNC2	387	F	S	1	ClinVar	criteria provided, single submitter	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	F388S	False	False	False	False	False	Q96PR1_387_S
Q15526	SURF1	285	S	P	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	S286P	False	False	False	False	False	Q15526_285_P
Q15526	SURF1	194	G	D	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	G195D	False	False	False	False	False	Q15526_194_D
Q15526	SURF1	259	G	E	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	G260E	False	False	False	False	False	Q15526_259_E
Q13698	CACNA1S	741	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	P742S	False	False	False	False	False	Q13698_741_S
P05165	PCCA	105	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	A106E	False	False	False	False	False	P05165_105_E
Q9Y3A0	COQ4	76	T	I	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	T77I	False	False	False	False	False	Q9Y3A0_76_I
P35498	SCN1A	1766	V	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1767F	False	False	False	False	False	P35498_1766_F
P35498	SCN1A	1332	M	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1333I	False	False	False	False	False	P35498_1332_I
P35498	SCN1A	1264	L	M	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1265M	False	False	False	False	False	P35498_1264_M
O75899	GABBR2	690	Y	C	1	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	Y691C	False	True	False	True	False	O75899_690_C
P35498	SCN1A	1543	D	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1544N	False	False	False	False	False	P35498_1543_N
P50993	ATP1A2	340	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	C341Y	False	False	True	True	False	P50993_340_Y
Q99250	SCN2A	1397	W	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	W1398R	False	False	False	False	False	Q99250_1397_R
Q15526	SURF1	204	G	E	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	G205E	False	False	False	False	False	Q15526_204_E
P16389	KCNA2	406	P	L	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	P407L	False	False	False	False	False	P16389_406_L
Q05193	DNM1	358	G	E	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G359E	False	False	False	False	False	Q05193_358_E
Q14721	KCNB1	377	V	G	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V378G	False	False	False	False	False	Q14721_377_G
O00555	CACNA1A	1642	D	Y	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D1643Y	False	False	False	False	False	O00555_1642_Y
P06753	TPM3	178	R	C	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	R179C	False	True	False	True	False	P06753_178_C
Q6UVM3	KCNT2	520	V	I	0	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	V521I	False	False	False	False	False	Q6UVM3_520_I
P68133	ACTA1	48	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M49V	True	False	False	False	True	P68133_48_V
P46459	NSF	562	P	R	1	ClinVar	criteria provided, single submitter	0.012096774193548387	Vesicle-fusing ATPase (EC 3.6.4.6) (N-ethylmaleimi	P563R	False	False	False	False	False	P46459_562_R
Q8NI60	COQ8A	300	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	R301Q	False	False	False	False	False	Q8NI60_300_Q
P35499	SCN4A	1134	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	R1135C	False	True	False	True	False	P35499_1134_C
Q9Y223	GNE	185	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	Y186C	False	True	False	True	False	Q9Y223_185_C
P30084	ECHS1	65	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	I66T	False	False	False	False	False	P30084_65_T
O43526	KCNQ2	265	D	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D266V	False	False	False	False	False	O43526_265_V
P28472	GABRB3	164	L	F	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L165F	False	False	False	False	False	P28472_164_F
O43526	KCNQ2	188	G	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G189D	False	False	False	False	False	O43526_188_D
Q9BYZ6	RHOBTB2	93	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	R94C	False	True	False	True	False	Q9BYZ6_93_C
Q6TFL4	KLHL24	305	R	H	1	ClinVar	criteria provided, single submitter	0.04	Kelch-like protein 24 (Kainate receptor-interactin	R306H	False	False	False	True	False	Q6TFL4_305_H
O43681	GET3	162	V	A	1	ClinVar	no assertion criteria provided	0.022988505747126436	ATPase GET3 (EC 3.6.4.-) (Arsenical pump-driving A	V163A	False	False	False	False	False	O43681_162_A
P68133	ACTA1	287	D	G	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D288G	False	False	False	False	False	P68133_287_G
Q13698	CACNA1S	741	P	Q	1	ClinVar	criteria provided, single submitter	0.02189001601708489	Voltage-dependent L-type calcium channel subunit a	P742Q	False	False	False	False	False	Q13698_741_Q
Q96KG7	MEGF10	809	C	Y	1	ClinVar	no assertion criteria provided	0.12982456140350876	Multiple epidermal growth factor-like domains prot	C810Y	False	False	True	True	False	Q96KG7_809_Y
Q96KG7	MEGF10	117	C	R	1	ClinVar	no assertion criteria provided	0.12982456140350876	Multiple epidermal growth factor-like domains prot	C118R	False	False	True	True	False	Q96KG7_117_R
Q96KG7	MEGF10	698	C	S	1	ClinVar	criteria provided, single submitter	0.12982456140350876	Multiple epidermal growth factor-like domains prot	C699S	False	False	True	True	False	Q96KG7_698_S
P06753	TPM3	148	L	I	1	ClinVar	no assertion criteria provided	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	L149I	False	False	False	False	False	P06753_148_I
Q9Y6N1	COX11	243	A	P	1	ClinVar	no assertion criteria provided	0.021739130434782608	Cytochrome c oxidase assembly protein COX11, mitoc	A244P	False	False	False	False	False	Q9Y6N1_243_P
Q99250	SCN2A	215	L	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L216S	False	False	False	False	False	Q99250_215_S
O43526	KCNQ2	278	G	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G279V	False	False	False	False	False	O43526_278_V
O95831	AIFM1	422	V	I	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	V423I	False	False	False	False	False	O95831_422_I
P23921	RRM1	380	R	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020202020202020204	Ribonucleoside-diphosphate reductase large subunit	R381H	False	False	False	False	False	P23921_380_H
Q14896	MYBPC3	160	P	R	1	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	P161R	False	False	False	False	False	Q14896_160_R
O43526	KCNQ2	145	W	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	W146R	False	False	False	False	False	O43526_145_R
Q14839	CHD4	746	T	A	1	ClinVar	criteria provided, single submitter	0.014121338912133892	Chromodomain-helicase-DNA-binding protein 4 (CHD-4	T747A	False	False	False	False	False	Q14839_746_A
Q00577	PURA	164	G	C	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G165C	False	True	False	True	False	Q00577_164_C
Q9BQ52	ELAC2	165	R	Q	0	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	R166Q	False	False	False	False	False	Q9BQ52_165_Q
Q9BQ52	ELAC2	56	T	I	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	T57I	False	False	False	False	False	Q9BQ52_56_I
Q9BQ52	ELAC2	141	P	L	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	P142L	False	False	False	False	False	Q9BQ52_141_L
O76039	CDKL5	126	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H127Y	False	False	False	False	False	O76039_126_Y
Q15031	LARS2	359	I	T	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	I360T	False	False	False	False	False	Q15031_359_T
P42704	LRPPRC	14	G	W	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	G15W	True	False	False	False	True	P42704_14_W
Q00059	TFAM	107	Q	E	0	ClinVar	criteria provided, single submitter	0.016260162601626018	Transcription factor A, mitochondrial (mtTFA) (Mit	Q108E	False	False	False	False	False	Q00059_107_E
Q6PI48	DARS2	306	N	S	0	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	N307S	False	False	False	False	False	Q6PI48_306_S
P11177	PDHB	36	D	E	0	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	D37E	True	False	False	False	True	P11177_36_E
Q9NSE4	IARS2	50	H	Q	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	H51Q	False	False	False	False	False	Q9NSE4_50_Q
P11498	PC	1129	K	R	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	K1130R	False	False	False	False	False	P11498_1129_R
Q8WU10	PYROXD1	353	Y	C	1	ClinVar	no assertion criteria provided	0.022	Pyridine nucleotide-disulfide oxidoreductase domai	Y354C	False	True	False	True	False	Q8WU10_353_C
Q8NI60	COQ8A	267	C	R	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	C268R	False	False	True	True	False	Q8NI60_267_R
O00429	DNM1L	148	G	R	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G149R	False	False	False	False	False	O00429_148_R
P36776	LONP1	300	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R301W	False	False	False	False	False	P36776_300_W
Q5T2R2	PDSS1	244	Q	H	1	ClinVar	no assertion criteria provided	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	Q245H	False	False	False	False	False	Q5T2R2_244_H
Q5T2R2	PDSS1	238	V	G	1	ClinVar	no assertion criteria provided	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	V239G	False	False	False	False	False	Q5T2R2_238_G
Q9UDY4	DNAJB4	261	L	S	1	ClinVar	no assertion criteria provided	0.011869436201780416	DnaJ homolog subfamily B member 4 (Heat shock 40 k	L262S	False	False	False	False	False	Q9UDY4_261_S
Q9UDY4	DNAJB4	24	R	Q	1	ClinVar	no assertion criteria provided	0.011869436201780416	DnaJ homolog subfamily B member 4 (Heat shock 40 k	R25Q	True	False	False	False	True	Q9UDY4_24_Q
Q9UDY4	DNAJB4	60	R	G	1	ClinVar	no assertion criteria provided	0.011869436201780416	DnaJ homolog subfamily B member 4 (Heat shock 40 k	R61G	False	False	False	False	False	Q9UDY4_60_G
Q9BRT2	UQCC2	33	R	Q	1	ClinVar	no assertion criteria provided	0.015873015873015872	Ubiquinol-cytochrome c reductase complex assembly 	R34Q	True	False	False	False	True	Q9BRT2_33_Q
Q9UQD0	SCN8A	1761	I	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1762L	False	False	False	False	False	Q9UQD0_1761_L
Q15046	KARS1	504	P	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	P505R	False	False	False	False	False	Q15046_504_R
Q05639	EEF1A2	419	P	R	1	ClinVar	criteria provided, single submitter	0.012958963282937365	Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6	P420R	False	False	False	False	False	Q05639_419_R
O14647	CHD2	938	V	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	V939G	False	False	False	False	False	O14647_938_G
O94805	ACTL6B	23	R	C	1	ClinVar	no assertion criteria provided	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	R24C	True	True	False	True	True	O94805_23_C
O94805	ACTL6B	293	Y	D	1	ClinVar	no assertion criteria provided	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	Y294D	False	False	False	False	False	O94805_293_D
O94805	ACTL6B	294	G	D	1	ClinVar	no assertion criteria provided	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	G295D	False	False	False	False	False	O94805_294_D
O94805	ACTL6B	28	G	R	1	ClinVar	no assertion criteria provided	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	G29R	True	False	False	False	True	O94805_28_R
O94805	ACTL6B	165	V	A	1	ClinVar	no assertion criteria provided	0.018779342723004695	Actin-like protein 6B (53 kDa BRG1-associated fact	V166A	False	False	False	False	False	O94805_165_A
P36776	LONP1	305	L	W	1	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	L306W	False	False	False	False	False	P36776_305_W
Q9UQ90	SPG7	731	L	P	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	L732P	False	False	False	False	False	Q9UQ90_731_P
Q9UQ90	SPG7	666	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M667I	False	False	False	False	False	Q9UQ90_666_I
O94925	GLS	423	C	R	1	ClinVar	criteria provided, single submitter	0.02242152466367713	Glutaminase kidney isoform, mitochondrial (GLS) (E	C424R	False	False	True	True	False	O94925_423_R
P09471	GNAO1	18	I	M	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	I19M	True	False	False	False	True	P09471_18_M
P22001	KCNA3	476	P	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020869565217391306	Potassium voltage-gated channel subfamily A member	P477H	False	False	False	False	False	P22001_476_H
P22001	KCNA3	467	G	F	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	G468F	False	False	False	False	False	P22001_467_F
P22001	KCNA3	477	V	M	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	V478M	False	False	False	False	False	P22001_477_M
P22001	KCNA3	10	P	R	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	P11R	True	False	False	False	True	P22001_10_R
P22001	KCNA3	356	A	V	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	A357V	False	False	False	False	False	P22001_356_V
P22001	KCNA3	360	A	T	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	A361T	False	False	False	False	False	P22001_360_T
P22001	KCNA3	430	I	N	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	I431N	False	False	False	False	False	P22001_430_N
P22001	KCNA3	442	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.020869565217391306	Potassium voltage-gated channel subfamily A member	T443I	False	False	False	False	False	P22001_442_I
P22001	KCNA3	459	V	M	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	V460M	False	False	False	False	False	P22001_459_M
O00429	DNM1L	38	S	R	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	S39R	True	False	False	False	True	O00429_38_R
P28472	GABRB3	309	L	R	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L310R	False	False	False	False	False	P28472_309_R
O43526	KCNQ2	276	T	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T277A	False	False	False	False	False	O43526_276_A
Q9H845	ACAD9	389	A	V	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A390V	False	False	False	False	False	Q9H845_389_V
P42704	LRPPRC	960	L	P	1	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	L961P	False	False	False	False	False	P42704_960_P
P35658	NUP214	309	I	T	1	ClinVar	criteria provided, single submitter	0.006220095693779904	Nuclear pore complex protein Nup214 (214 kDa nucle	I310T	False	False	False	False	False	P35658_309_T
P45379	TNNT2	103	R	S	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R104S	False	False	False	False	False	P45379_103_S
Q9GZZ9	UBA5	93	R	G	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	R94G	False	False	False	False	False	Q9GZZ9_93_G
Q96F07	CYFIP2	550	V	L	1	ClinVar	criteria provided, single submitter	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	V551L	False	False	False	False	False	Q96F07_550_L
P35499	SCN4A	1208	C	F	1	ClinVar	no assertion criteria provided	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	C1209F	False	False	True	True	False	P35499_1208_F
P35499	SCN4A	381	P	T	1	ClinVar	no assertion criteria provided	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	P382T	False	False	False	False	False	P35499_381_T
P35499	SCN4A	374	C	R	1	ClinVar	no assertion criteria provided	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	C375R	False	False	True	True	False	P35499_374_R
Q9UM47	NOTCH3	567	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C568R	False	False	True	True	False	Q9UM47_567_R
Q15049	MLC1	265	S	R	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	S266R	False	False	False	False	False	Q15049_265_R
P11177	PDHB	0	M	V	1	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	M1V	True	False	False	False	True	P11177_0_V
P02545	LMNA	290	E	V	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E291V	False	False	False	False	False	P02545_290_V
Q99714	HSD17B10	235	L	F	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	L236F	False	False	False	False	False	Q99714_235_F
A6NK58	LIPT2	0	M	L	1	ClinVar	criteria provided, single submitter	0.03896103896103896	Octanoyl-[acyl-carrier-protein]:protein N-octanoyl	M1L	True	False	False	True	True	A6NK58_0_L
P20929	NEB	7986	T	P	0	ClinVar	no assertion criteria provided	0.00809384164222874	Nebulin	T7987P	False	False	False	False	False	P20929_7986_P
Q8WWT9	SLC13A3	492	P	L	1	ClinVar	no assertion criteria provided	0.011627906976744186	Na(+)/dicarboxylate cotransporter 3 (NaDC-3) (hNaD	P493L	False	False	False	False	False	Q8WWT9_492_L
Q9NSE4	IARS2	783	R	W	1	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	R784W	False	False	False	False	False	Q9NSE4_783_W
P07333	CSF1R	792	K	E	1	ClinVar	no assertion criteria provided	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	K793E	False	False	False	False	False	P07333_792_E
P13805	TNNT1	95	L	P	1	ClinVar	no assertion criteria provided	0.0035971223021582736	Troponin T, slow skeletal muscle (TnTs) (Slow skel	L96P	False	False	False	False	False	P13805_95_P
P13805	TNNT1	241	A	P	1	ClinVar	no assertion criteria provided	0.0035971223021582736	Troponin T, slow skeletal muscle (TnTs) (Slow skel	A242P	False	False	False	False	False	P13805_241_P
P13805	TNNT1	64	D	A	1	ClinVar	no assertion criteria provided	0.0035971223021582736	Troponin T, slow skeletal muscle (TnTs) (Slow skel	D65A	False	False	False	False	False	P13805_64_A
Q9UJS0	SLC25A13	435	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	G436E	False	False	False	False	False	Q9UJS0_435_E
Q9H3S4	TPK1	74	I	N	1	ClinVar	criteria provided, single submitter	0.024691358024691357	Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) 	I75N	False	False	False	False	False	Q9H3S4_74_N
P43004	SLC1A2	275	I	S	1	ClinVar	criteria provided, single submitter	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	I276S	False	False	False	False	False	P43004_275_S
P43004	SLC1A2	541	H	R	1	ClinVar	criteria provided, single submitter	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	H542R	False	False	False	False	False	P43004_541_R
O00555	CACNA1A	61	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y62C	False	True	False	True	False	O00555_61_C
O60313	OPA1	0	M	L	1	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	M1L	True	False	False	False	True	O60313_0_L
P45379	TNNT2	217	K	E	1	ClinVar	no assertion criteria provided	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	K218E	False	False	False	False	False	P45379_217_E
P45379	TNNT2	209	K	N	1	ClinVar	no assertion criteria provided	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	K210N	False	False	False	False	False	P45379_209_N
Q86V15	CASZ1	186	G	S	1	ClinVar	criteria provided, single submitter	0.03297328027288232	Zinc finger protein castor homolog 1 (Castor-relat	G187S	False	False	False	True	False	Q86V15_186_S
P35498	SCN1A	1459	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1460C	False	True	False	True	False	P35498_1459_C
Q99715	COL12A1	2776	G	R	1	ClinVar	no assertion criteria provided	0.0068560235063663075	Collagen alpha-1(XII) chain	G2777R	False	False	False	False	False	Q99715_2776_R
P50570	DNM2	593	R	K	1	ClinVar	criteria provided, single submitter	0.006896551724137931	Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)	R594K	False	False	False	False	False	P50570_593_K
P23434	GCSH	56	H	R	1	ClinVar	no assertion criteria provided	0.023121387283236993	Glycine cleavage system H protein, mitochondrial (	H57R	False	False	False	False	False	P23434_56_R
P23434	GCSH	114	P	L	1	ClinVar	no assertion criteria provided	0.023121387283236993	Glycine cleavage system H protein, mitochondrial (	P115L	False	False	False	False	False	P23434_114_L
O95140	MFN2	241	H	Y	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	H242Y	False	False	False	False	False	O95140_241_Y
Q99807	COQ7	110	L	P	1	ClinVar	no assertion criteria provided	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	L111P	False	False	False	False	False	Q99807_110_P
Q9NSE4	IARS2	778	F	L	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	F779L	False	False	False	False	False	Q9NSE4_778_L
O00555	CACNA1A	1150	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G1151S	False	False	False	False	False	O00555_1150_S
Q9Y2Z4	YARS2	396	P	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.008385744234800839	Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) 	P397S	False	False	False	False	False	Q9Y2Z4_396_S
P54098	POLG	117	V	A	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	V118A	False	False	False	False	False	P54098_117_A
P54098	POLG	155	L	S	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L156S	False	False	False	False	False	P54098_155_S
Q00059	TFAM	108	V	A	0	ClinVar	criteria provided, single submitter	0.016260162601626018	Transcription factor A, mitochondrial (mtTFA) (Mit	V109A	False	False	False	False	False	Q00059_108_A
Q9NZV8	KCND2	470	G	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.025396825396825397	A-type voltage-gated potassium channel KCND2 (Pota	G471S	False	False	False	False	False	Q9NZV8_470_S
Q96JX3	SERAC1	25	H	R	0	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	H26R	True	False	False	False	True	Q96JX3_25_R
Q9NP81	SARS2	140	R	H	0	ClinVar	criteria provided, single submitter	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	R141H	False	False	False	False	False	Q9NP81_140_H
Q9BTW9	TBCD	692	P	T	1	ClinVar	criteria provided, single submitter	0.026006711409395974	Tubulin-specific chaperone D (Beta-tubulin cofacto	P693T	False	False	False	False	False	Q9BTW9_692_T
P38606	ATP6V1A	431	F	I	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	F432I	False	False	False	False	False	P38606_431_I
O43526	KCNQ2	255	G	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G256W	False	False	False	False	False	O43526_255_W
P47869	GABRA2	293	T	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	T294I	False	False	False	False	False	P47869_293_I
O00429	DNM1L	349	G	A	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G350A	False	False	False	False	False	O00429_349_A
P25705	ATP5F1A	417	G	R	1	ClinVar	criteria provided, single submitter	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	G418R	False	False	False	False	False	P25705_417_R
P10589	NR2F1	93	S	R	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	S94R	False	False	False	True	False	P10589_93_R
Q13224	GRIN2B	732	A	E	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A733E	False	False	False	False	False	Q13224_732_E
P35498	SCN1A	395	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G396R	False	False	False	False	False	P35498_395_R
O43526	KCNQ2	307	P	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P308L	False	False	False	False	False	O43526_307_L
Q13496	MTM1	457	F	V	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	F458V	False	False	False	False	False	Q13496_457_V
Q9UKX2	MYH2	1883	Y	S	1	ClinVar	criteria provided, single submitter	0.00927357032457496	Myosin-2 (Myosin heavy chain 2) (Myosin heavy chai	Y1884S	False	False	False	False	False	Q9UKX2_1883_S
Q00577	PURA	75	D	A	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	D76A	False	False	False	False	False	Q00577_75_A
Q96QS3	ARX	0	M	L	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	M1L	True	False	False	False	True	Q96QS3_0_L
P21817	RYR1	42	N	T	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	N43T	True	False	False	False	True	P21817_42_T
P63316	TNNC1	33	G	R	1	ClinVar	no assertion criteria provided	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	G34R	True	False	False	False	True	P63316_33_R
P55087	AQP4	214	A	T	1	ClinVar	no assertion criteria provided	0.02476780185758514	Aquaporin-4 (AQP-4) (Mercurial-insensitive water c	A215T	False	False	False	False	False	P55087_214_T
O43526	KCNQ2	281	D	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D282E	False	False	False	False	False	O43526_281_E
P63316	TNNC1	3	I	M	1	ClinVar	no assertion criteria provided	0.012422360248447204	Troponin C, slow skeletal and cardiac muscles (TN-	I4M	True	False	False	False	True	P63316_3_M
P35499	SCN4A	1446	F	S	1	ClinVar	criteria provided, single submitter	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	F1447S	False	False	False	False	False	P35499_1446_S
P35499	SCN4A	1265	E	D	1	ClinVar	criteria provided, single submitter	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	E1266D	False	False	False	False	False	P35499_1265_D
P19429	TNNI3	203	R	L	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	R204L	False	False	False	False	False	P19429_203_L
P12883	MYH7	1392	L	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1393P	False	False	False	False	False	P12883_1392_P
P12883	MYH7	142	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R143G	False	False	False	False	False	P12883_142_G
Q13224	GRIN2B	695	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R696C	False	True	False	True	False	Q13224_695_C
Q9BQ52	ELAC2	492	P	L	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	P493L	False	False	False	False	False	Q9BQ52_492_L
Q14721	KCNB1	380	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G381R	False	False	False	False	False	Q14721_380_R
Q330K2	NDUFAF6	0	M	L	1	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	M1L	True	False	False	False	True	Q330K2_0_L
P07333	CSF1R	823	P	L	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	P824L	False	False	False	False	False	P07333_823_L
Q5JTZ9	AARS2	267	M	I	1	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	M268I	False	False	False	False	False	Q5JTZ9_267_I
P61764	STXBP1	484	I	T	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I485T	False	False	False	False	False	P61764_484_T
Q13224	GRIN2B	823	M	V	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	M824V	False	False	False	False	False	Q13224_823_V
Q15046	KARS1	442	L	P	1	ClinVar	criteria provided, single submitter	0.01340033500837521	Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lys	L443P	False	False	False	False	False	Q15046_442_P
Q9UQD0	SCN8A	245	Q	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Q246R	False	False	False	False	False	Q9UQD0_245_R
P12883	MYH7	527	M	K	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M528K	False	False	False	False	False	P12883_527_K
P12883	MYH7	737	S	R	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S738R	False	False	False	False	False	P12883_737_R
P12883	MYH7	760	T	I	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	T761I	False	False	False	False	False	P12883_760_I
Q9H845	ACAD9	601	S	F	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	S602F	False	False	False	False	False	Q9H845_601_F
Q9UJS0	SLC25A13	34	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	M35V	True	False	False	False	True	Q9UJS0_34_V
O00217	NDUFS8	53	R	W	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R54W	False	False	False	True	False	O00217_53_W
O95299	NDUFA10	138	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R139C	False	True	False	True	False	O95299_138_C
P36776	LONP1	300	R	G	1	ClinVar	no assertion criteria provided	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R301G	False	False	False	False	False	P36776_300_G
Q9UQD0	SCN8A	412	A	D	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A413D	False	False	False	False	False	Q9UQD0_412_D
P35498	SCN1A	208	L	P	1	ClinVar	no assertion criteria provided	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L209P	False	False	False	False	False	P35498_208_P
O76039	CDKL5	133	R	P	1	ClinVar	no assertion criteria provided	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R134P	False	False	False	False	False	O76039_133_P
P12109	COL6A1	370	G	R	1	ClinVar	no assertion criteria provided	0.019455252918287938	Collagen alpha-1(VI) chain	G371R	False	False	False	False	False	P12109_370_R
P12111	COL6A3	2052	G	D	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G2053D	False	False	False	False	False	P12111_2052_D
Q5TEU4	NDUFAF5	260	M	T	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M261T	False	False	False	False	False	Q5TEU4_260_T
Q5T3F8	TMEM63B	43	V	M	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03365384615384615	Mechanosensitive cation channel TMEM63B (Transmemb	V44M	True	False	False	True	True	Q5T3F8_43_M
Q99250	SCN2A	793	G	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G794R	False	False	False	False	False	Q99250_793_R
Q01581	HMGCS1	446	S	P	1	ClinVar	criteria provided, single submitter	0.019230769230769232	Hydroxymethylglutaryl-CoA synthase, cytoplasmic (H	S447P	False	False	False	False	False	Q01581_446_P
Q01581	HMGCS1	28	Q	L	1	ClinVar	criteria provided, single submitter	0.019230769230769232	Hydroxymethylglutaryl-CoA synthase, cytoplasmic (H	Q29L	True	False	False	False	True	Q01581_28_L
Q01581	HMGCS1	296	G	V	1	ClinVar	criteria provided, single submitter	0.019230769230769232	Hydroxymethylglutaryl-CoA synthase, cytoplasmic (H	G297V	False	False	False	False	False	Q01581_296_V
Q01581	HMGCS1	69	M	T	1	ClinVar	criteria provided, single submitter	0.019230769230769232	Hydroxymethylglutaryl-CoA synthase, cytoplasmic (H	M70T	False	False	False	False	False	Q01581_69_T
Q86U28	ISCA2	104	R	G	1	ClinVar	criteria provided, single submitter	0.025974025974025976	Iron-sulfur cluster assembly 2 homolog, mitochondr	R105G	False	False	False	False	False	Q86U28_104_G
Q9Y276	BCS1L	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	M1L	True	False	False	False	True	Q9Y276_0_L
P68133	ACTA1	58	E	K	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E59K	False	False	False	False	False	P68133_58_K
Q9UQD0	SCN8A	978	S	N	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S979N	False	False	False	False	False	Q9UQD0_978_N
Q14721	KCNB1	207	L	R	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L208R	False	False	False	False	False	Q14721_207_R
P23378	GLDC	728	A	E	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	A729E	False	False	False	False	False	P23378_728_E
P55072	VCP	255	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R256G	False	False	False	False	False	P55072_255_G
P12111	COL6A3	543	R	W	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R544W	False	False	False	False	False	P12111_543_W
P68133	ACTA1	255	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R256G	False	False	False	False	False	P68133_255_G
P68133	ACTA1	195	T	P	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	T196P	False	False	False	False	False	P68133_195_P
P68133	ACTA1	185	D	H	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D186H	False	False	False	False	False	P68133_185_H
P68133	ACTA1	180	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D181H	False	False	False	False	False	P68133_180_H
P68133	ACTA1	121	T	P	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	T122P	False	False	False	False	False	P68133_121_P
P68133	ACTA1	29	R	K	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R30K	True	False	False	False	True	P68133_29_K
P68133	ACTA1	308	P	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	P309S	False	False	False	False	False	P68133_308_S
P68133	ACTA1	289	D	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D290N	False	False	False	False	False	P68133_289_N
P68133	ACTA1	284	M	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M285R	False	False	False	False	False	P68133_284_R
P68133	ACTA1	147	G	V	1	ClinVar	reviewed by expert panel	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G148V	False	False	False	False	False	P68133_147_V
P68133	ACTA1	146	S	F	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	S147F	False	False	False	False	False	P68133_146_F
P68133	ACTA1	108	E	D	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E109D	False	False	False	False	False	P68133_108_D
P68133	ACTA1	47	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G48A	True	False	False	False	True	P68133_47_A
P68133	ACTA1	296	A	T	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A297T	False	False	False	False	False	P68133_296_T
P68133	ACTA1	277	E	D	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E278D	False	False	False	False	False	P68133_277_D
P68133	ACTA1	37	G	A	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G38A	True	False	False	False	True	P68133_37_A
P68133	ACTA1	374	K	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	K375N	False	False	False	False	False	P68133_374_N
P68133	ACTA1	257	R	G	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R258G	False	False	False	False	False	P68133_257_G
Q8NCM2	KCNH5	467	T	P	1	ClinVar	no assertion criteria provided	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	T468P	False	False	False	False	False	Q8NCM2_467_P
Q8NCM2	KCNH5	470	F	S	1	ClinVar	no assertion criteria provided	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	F471S	False	False	False	False	False	Q8NCM2_470_S
P07333	CSF1R	922	Y	C	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	Y923C	False	True	False	True	False	P07333_922_C
Q8NCM2	KCNH5	460	A	E	1	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	A461E	False	False	False	False	False	Q8NCM2_460_E
P35498	SCN1A	933	M	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M934L	False	False	False	False	False	P35498_933_L
P21912	SDHB	0	M	V	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	M1V	True	False	False	True	True	P21912_0_V
P08559	PDHA1	154	M	I	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M155I	False	False	False	True	False	P08559_154_I
Q9C0D0	PHACTR1	69	P	R	1	ClinVar	criteria provided, single submitter	0.013793103448275862	Phosphatase and actin regulator 1	P70R	False	False	False	False	False	Q9C0D0_69_R
P21817	RYR1	3303	C	R	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	C3304R	False	False	True	True	False	P21817_3303_R
P61764	STXBP1	553	Y	S	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Y554S	False	False	False	False	False	P61764_553_S
O00429	DNM1L	58	T	I	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	T59I	False	False	False	False	False	O00429_58_I
O43526	KCNQ2	312	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G313R	False	False	False	False	False	O43526_312_R
O43526	KCNQ2	306	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L307P	False	False	False	False	False	O43526_306_P
Q9BYZ6	RHOBTB2	34	A	S	1	ClinVar	criteria provided, single submitter	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	A35S	True	False	False	False	True	Q9BYZ6_34_S
P08559	PDHA1	205	E	K	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E206K	False	False	False	True	False	P08559_205_K
Q14721	KCNB1	195	I	S	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I196S	False	False	False	False	False	Q14721_195_S
O14647	CHD2	889	N	K	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N890K	False	False	False	False	False	O14647_889_K
Q16740	CLPP	161	G	S	1	ClinVar	criteria provided, single submitter	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	G162S	False	False	False	False	False	Q16740_161_S
Q99807	COQ7	0	M	V	1	ClinVar	no assertion criteria provided	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	M1V	True	False	False	False	True	Q99807_0_V
Q99807	COQ7	155	L	Q	1	ClinVar	no assertion criteria provided	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	L156Q	False	False	False	False	False	Q99807_155_Q
Q99807	COQ7	155	L	R	1	ClinVar	no assertion criteria provided	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	L156R	False	False	False	False	False	Q99807_155_R
Q15784	NEUROD2	69	L	V	1	ClinVar	criteria provided, single submitter	0.01832460732984293	Neurogenic differentiation factor 2 (NeuroD2) (Cla	L70V	False	False	False	False	False	Q15784_69_V
O95140	MFN2	93	R	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R94L	False	False	False	False	False	O95140_93_L
P35498	SCN1A	1725	W	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1726R	False	False	False	False	False	P35498_1725_R
Q9Y223	GNE	292	H	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	H293R	False	False	False	False	False	Q9Y223_292_R
O00142	TK2	133	R	S	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R134S	False	False	False	False	False	O00142_133_S
Q9NQG6	MIEF1	239	Y	N	1	ClinVar	no assertion criteria provided	0.017278617710583154	Mitochondrial dynamics protein MIEF1 (Mitochondria	Y240N	False	False	False	False	False	Q9NQG6_239_N
Q9NQG6	MIEF1	145	R	W	1	ClinVar	no assertion criteria provided	0.017278617710583154	Mitochondrial dynamics protein MIEF1 (Mitochondria	R146W	False	False	False	False	False	Q9NQG6_145_W
Q96F07	CYFIP2	295	D	V	1	ClinVar	criteria provided, single submitter	0.027386541471048513	Cytoplasmic FMR1-interacting protein 2 (p53-induci	D296V	False	False	False	False	False	Q96F07_295_V
P18507	GABRG2	291	V	A	1	ClinVar	no assertion criteria provided	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	V292A	False	False	False	False	False	P18507_291_A
O60741	HCN1	365	P	T	1	ClinVar	no assertion criteria provided	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	P366T	False	False	False	False	False	O60741_365_T
Q9UQ90	SPG7	0	M	R	1	ClinVar	no assertion criteria provided	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M1R	True	False	False	False	True	Q9UQ90_0_R
P13637	ATP1A3	269	G	S	0	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	G270S	False	False	False	False	False	P13637_269_S
O75306	NDUFS2	307	Y	C	1	ClinVar	no assertion criteria provided	0.01511879049676026	NADH dehydrogenase [ubiquinone] iron-sulfur protei	Y308C	False	True	False	True	False	O75306_307_C
P38606	ATP6V1A	99	D	V	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	D100V	False	False	False	False	False	P38606_99_V
Q02846	GUCY2D	726	G	D	1	ClinVar	criteria provided, single submitter	0.016319129646418858	Retinal guanylyl cyclase 1 (RETGC-1) (EC 4.6.1.2) 	G727D	False	False	False	False	False	Q02846_726_D
Q9UL33	TRAPPC2L	54	E	V	1	ClinVar	criteria provided, single submitter	0.02142857142857143	Trafficking protein particle complex subunit 2-lik	E55V	False	False	False	False	False	Q9UL33_54_V
Q8IVS2	MCAT	274	E	K	1	ClinVar	no assertion criteria provided	0.020512820512820513	Malonyl-CoA-acyl carrier protein transacylase, mit	E275K	False	False	False	False	False	Q8IVS2_274_K
P10809	HSPD1	62	I	T	1	ClinVar	criteria provided, single submitter	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	I63T	False	False	False	False	False	P10809_62_T
P68133	ACTA1	228	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	M229T	False	False	False	False	False	P68133_228_T
P55084	HADHB	246	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	R247C	False	True	False	True	False	P55084_246_C
P35218	CA5A	158	W	R	1	ClinVar	criteria provided, single submitter	0.013114754098360656	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) 	W159R	False	False	False	False	False	P35218_158_R
Q9BSH4	TACO1	153	S	P	0	ClinVar	criteria provided, single submitter	0.026936026936026935	Translational activator of cytochrome c oxidase 1 	S154P	False	False	False	False	False	Q9BSH4_153_P
Q9NP81	SARS2	47	A	T	0	ClinVar	criteria provided, single submitter	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	A48T	True	False	False	False	True	Q9NP81_47_T
P53597	SUCLG1	236	I	T	0	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	I237T	False	False	False	False	False	P53597_236_T
Q9UL33	TRAPPC2L	39	D	G	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02142857142857143	Trafficking protein particle complex subunit 2-lik	D40G	True	False	False	False	True	Q9UL33_39_G
Q5JTZ9	AARS2	345	P	L	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	P346L	False	False	False	False	False	Q5JTZ9_345_L
Q96RP9	GFM1	29	W	G	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	W30G	True	False	False	False	True	Q96RP9_29_G
Q9NP73	ALG13	730	T	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	T731A	False	False	False	False	False	Q9NP73_730_A
P08559	PDHA1	87	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R88C	False	True	False	True	False	P08559_87_C
Q13045	FLII	1167	R	W	1	ClinVar	no assertion criteria provided	0.02048857368006304	Protein flightless-1 homolog	R1168W	False	False	False	False	False	Q13045_1167_W
Q9NP73	ALG13	43	G	E	1	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	G44E	True	False	False	False	True	Q9NP73_43_E
P61764	STXBP1	463	R	G	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	R464G	False	False	False	False	False	P61764_463_G
Q96H20	SNF8	190	G	D	1	ClinVar	criteria provided, single submitter	0.007751937984496124	Vacuolar-sorting protein SNF8 (ELL-associated prot	G191D	False	False	False	False	False	Q96H20_190_D
Q96H20	SNF8	78	P	L	1	ClinVar	criteria provided, single submitter	0.007751937984496124	Vacuolar-sorting protein SNF8 (ELL-associated prot	P79L	False	False	False	False	False	Q96H20_78_L
Q96H20	SNF8	207	R	L	1	ClinVar	criteria provided, single submitter	0.007751937984496124	Vacuolar-sorting protein SNF8 (ELL-associated prot	R208L	False	False	False	False	False	Q96H20_207_L
P23921	RRM1	380	R	C	1	ClinVar	no assertion criteria provided	0.020202020202020204	Ribonucleoside-diphosphate reductase large subunit	R381C	False	True	False	True	False	P23921_380_C
Q15049	MLC1	84	C	Y	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	C85Y	False	False	True	True	False	Q15049_84_Y
Q15049	MLC1	267	T	R	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	T268R	False	False	False	False	False	Q15049_267_R
Q15049	MLC1	87	G	V	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G88V	False	False	False	False	False	Q15049_87_V
Q5T160	RARS2	403	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M404V	False	False	False	False	False	Q5T160_403_V
P55084	HADHB	113	N	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	N114D	False	False	False	False	False	P55084_113_D
P55084	HADHB	163	G	S	1	ClinVar	criteria provided, single submitter	0.010548523206751054	Trifunctional enzyme subunit beta, mitochondrial (	G164S	False	False	False	False	False	P55084_163_S
P54098	POLG	416	R	T	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R417T	False	False	False	False	False	P54098_416_T
P54098	POLG	1103	S	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S1104C	False	True	False	True	False	P54098_1103_C
O75072	FKTN	171	H	R	1	ClinVar	criteria provided, single submitter	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	H172R	False	False	False	False	False	O75072_171_R
Q9Y223	GNE	275	F	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	F276C	False	True	False	True	False	Q9Y223_275_C
P05166	PCCB	164	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	R165P	False	False	False	False	False	P05166_164_P
O95571	ETHE1	195	D	H	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	D196H	False	False	False	True	False	O95571_195_H
P21912	SDHB	97	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	C98R	False	False	True	True	False	P21912_97_R
Q9UJS0	SLC25A13	289	I	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	I290T	False	False	False	False	False	Q9UJS0_289_T
Q9UJS0	SLC25A13	24	A	E	1	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	A25E	True	False	False	False	True	Q9UJS0_24_E
Q9UI10	EIF2B4	482	R	W	1	ClinVar	no assertion criteria provided	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	R483W	False	False	False	False	False	Q9UI10_482_W
Q9UI10	EIF2B4	390	A	D	1	ClinVar	no assertion criteria provided	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	A391D	False	False	False	False	False	Q9UI10_390_D
Q9UI10	EIF2B4	206	M	T	1	ClinVar	no assertion criteria provided	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	M207T	False	False	False	False	False	Q9UI10_206_T
P12883	MYH7	1436	A	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1437P	False	False	False	False	False	P12883_1436_P
P68133	ACTA1	26	D	N	1	ClinVar	no assertion criteria provided	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D27N	True	False	False	False	True	P68133_26_N
Q6UVM3	KCNT2	266	L	H	1	ClinVar	criteria provided, single submitter	0.02643171806167401	Potassium channel subfamily T member 2 (KNa1.2) (S	L267H	False	False	False	False	False	Q6UVM3_266_H
P35498	SCN1A	1374	H	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	H1375P	False	False	False	False	False	P35498_1374_P
P53667	LIMK1	510	G	A	1	ClinVar	no assertion criteria provided	0.04327666151468315	LIM domain kinase 1 (LIMK-1) (EC 2.7.11.1)	G511A	False	False	False	True	False	P53667_510_A
Q9BU61	NDUFAF3	100	S	N	1	ClinVar	no assertion criteria provided	0.021739130434782608	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	S101N	False	False	False	False	False	Q9BU61_100_N
Q5T440	IBA57	103	G	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016853932584269662	Iron-sulfur cluster assembly factor IBA57, mitocho	G104C	False	True	False	True	False	Q5T440_103_C
Q16854	DGUOK	57	L	P	1	ClinVar	no assertion criteria provided	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	L58P	False	False	False	False	False	Q16854_57_P
P11166	SLC2A1	0	M	R	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	M1R	True	False	False	False	True	P11166_0_R
P10589	NR2F1	0	M	I	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	M1I	True	False	False	True	True	P10589_0_I
Q14315	FLNC	1579	D	N	1	ClinVar	no assertion criteria provided	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	D1580N	False	False	False	False	False	Q14315_1579_N
Q8N9W5	DNAAF3;DNAAF3-AS1;TNNI3	110	E	K	1	ClinVar	no assertion criteria provided	0.012939001848428836	Dynein axonemal assembly factor 3	E111K	False	False	False	False	False	Q8N9W5_110_K
O95831	AIFM1	471	A	V	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A472V	False	False	False	False	False	O95831_471_V
O95140	MFN2	251	N	D	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	N252D	False	False	False	False	False	O95140_251_D
Q96RR1	TWNK	405	R	Q	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R406Q	False	False	False	False	False	Q96RR1_405_Q
O95831	AIFM1	469	T	S	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	T470S	False	False	False	False	False	O95831_469_S
Q96RR1	TWNK	462	R	Q	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R463Q	False	False	False	False	False	Q96RR1_462_Q
O95831	AIFM1	300	K	I	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	K301I	False	False	False	False	False	O95831_300_I
O95831	AIFM1	464	A	V	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A465V	False	False	False	False	False	O95831_464_V
O14647	CHD2	921	E	A	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	E922A	False	False	False	False	False	O14647_921_A
Q9Y3A0	COQ4	144	R	H	1	ClinVar	no assertion criteria provided	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R145H	False	False	False	False	False	Q9Y3A0_144_H
Q9Y3A0	COQ4	239	R	H	1	ClinVar	no assertion criteria provided	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R240H	False	False	False	False	False	Q9Y3A0_239_H
P21817	RYR1	4812	H	R	1	ClinVar	no assertion criteria provided	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	H4813R	False	False	False	False	False	P21817_4812_R
Q9UQD0	SCN8A	1486	K	M	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	K1487M	False	False	False	False	False	Q9UQD0_1486_M
P37287	PIGA	282	R	G	1	ClinVar	criteria provided, single submitter	0.024793388429752067	Phosphatidylinositol N-acetylglucosaminyltransfera	R283G	False	False	False	False	False	P37287_282_G
Q09470	KCNA1	404	P	H	1	ClinVar	criteria provided, single submitter	0.01616161616161616	Potassium voltage-gated channel subfamily A member	P405H	False	False	False	False	False	Q09470_404_H
P14867	GABRA1	278	V	L	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	V279L	False	False	False	False	False	P14867_278_L
Q9H845	ACAD9	97	L	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	L98S	False	False	False	False	False	Q9H845_97_S
P02462	COL4A1	178	G	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G179A	False	False	False	False	False	P02462_178_A
Q8WZ42	TTN	43	Q	H	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	Q44H	True	False	False	False	True	Q8WZ42_43_H
Q8WZ42	TTN	6406	V	A	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	V6407A	False	False	False	False	False	Q8WZ42_6406_A
Q8WZ42	TTN	1020	A	D	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A1021D	False	False	False	False	False	Q8WZ42_1020_D
Q8WZ42	TTN	1481	G	S	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	G1482S	False	False	False	False	False	Q8WZ42_1481_S
Q8WZ42	TTN	210	A	T	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A211T	False	False	False	False	False	Q8WZ42_210_T
Q8WZ42	TTN	24342	A	S	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A24343S	False	False	False	False	False	Q8WZ42_24342_S
Q8WZ42	TTN	2591	L	R	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	L2592R	False	False	False	False	False	Q8WZ42_2591_R
Q8WZ42	TTN	3221	A	T	0	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A3222T	False	False	False	False	False	Q8WZ42_3221_T
Q13405	MRPL49	87	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.006024096385542169	Large ribosomal subunit protein mL49 (39S ribosoma	R88C	False	True	False	True	False	Q13405_87_C
A6NFY7	SDHAF1	31	V	E	1	ClinVar	criteria provided, single submitter	0.008695652173913044	Succinate dehydrogenase assembly factor 1, mitocho	V32E	True	False	False	False	True	A6NFY7_31_E
Q9NQL2	RRAGD	99	I	R	1	ClinVar	criteria provided, single submitter	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	I100R	False	False	False	False	False	Q9NQL2_99_R
Q99250	SCN2A	904	K	N	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K905N	False	False	False	False	False	Q99250_904_N
P10589	NR2F1	113	V	L	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	V114L	False	False	False	True	False	P10589_113_L
O00555	CACNA1A	616	L	F	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	L617F	False	False	False	False	False	O00555_616_F
P35498	SCN1A	1370	G	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1371S	False	False	False	False	False	P35498_1370_S
Q9UJS0	SLC25A13	438	G	E	1	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	G439E	False	False	False	False	False	Q9UJS0_438_E
P05166	PCCB	381	D	V	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	D382V	False	False	False	False	False	P05166_381_V
P68133	ACTA1	94	E	G	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E95G	False	False	False	False	False	P68133_94_G
P12883	MYH7	1548	A	D	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A1549D	False	False	False	False	False	P12883_1548_D
P35498	SCN1A	706	P	S	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P707S	False	False	False	False	False	P35498_706_S
Q5TEU4	NDUFAF5	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M1L	True	False	False	False	True	Q5TEU4_0_L
Q14721	KCNB1	567	P	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P568T	False	False	False	False	False	Q14721_567_T
P35498	SCN1A	1617	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1618R	False	False	False	False	False	P35498_1617_R
P61764	STXBP1	251	M	V	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M252V	False	False	False	False	False	P61764_251_V
P54098	POLG	932	S	N	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S933N	False	False	False	False	False	P54098_932_N
P12883	MYH7	716	D	V	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D717V	False	False	False	False	False	P12883_716_V
P35498	SCN1A	1220	E	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1221D	False	False	False	False	False	P35498_1220_D
O75112	LDB3	107	D	A	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	D108A	False	False	False	False	False	O75112_107_A
P36776	LONP1	141	I	M	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	I142M	False	False	False	False	False	P36776_141_M
Q9Y276	BCS1L	44	R	G	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R45G	True	False	False	False	True	Q9Y276_44_G
Q00839	HNRNPU	82	D	E	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	D83E	False	False	False	False	False	Q00839_82_E
Q9Y276	BCS1L	191	V	A	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	V192A	False	False	False	False	False	Q9Y276_191_A
O43526	KCNQ2	224	V	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V225F	False	False	False	False	False	O43526_224_F
P12109	COL6A1	742	V	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	V743L	False	False	False	False	False	P12109_742_L
O95140	MFN2	131	C	F	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	C132F	False	False	True	True	False	O95140_131_F
P20929	NEB	6220	H	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H6221P	False	False	False	False	False	P20929_6220_P
P35498	SCN1A	164	Y	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y165C	False	True	False	True	False	P35498_164_C
P20929	NEB	6613	V	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V6614L	False	False	False	False	False	P20929_6613_L
Q15526	SURF1	0	M	I	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	M1I	True	False	False	False	True	Q15526_0_I
P20929	NEB	7736	R	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7737T	False	False	False	False	False	P20929_7736_T
O14647	CHD2	1533	W	R	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	W1534R	False	False	False	False	False	O14647_1533_R
P35498	SCN1A	98	I	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I99V	False	False	False	False	False	P35498_98_V
P20929	NEB	695	V	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V696A	False	False	False	False	False	P20929_695_A
Q16363	LAMA4	268	P	S	0	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	P269S	False	False	False	False	False	Q16363_268_S
P35498	SCN1A	1629	V	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1630A	False	False	False	False	False	P35498_1629_A
P08559	PDHA1	262	R	Q	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R263Q	False	False	False	True	False	P08559_262_Q
P35498	SCN1A	1346	I	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1347F	False	False	False	False	False	P35498_1346_F
P35498	SCN1A	1149	S	N	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1150N	False	False	False	False	False	P35498_1149_N
O43526	KCNQ2	228	S	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	S229G	False	False	False	False	False	O43526_228_G
Q00839	HNRNPU	0	M	L	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	M1L	True	False	False	False	True	Q00839_0_L
Q14721	KCNB1	350	F	V	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	F351V	False	False	False	False	False	Q14721_350_V
P61764	STXBP1	60	I	T	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I61T	False	False	False	False	False	P61764_60_T
Q00839	HNRNPU	438	L	H	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	L439H	False	False	False	False	False	Q00839_438_H
Q5T481	RBM20	1055	A	P	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	A1056P	False	False	False	False	False	Q5T481_1055_P
P20929	NEB	2090	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M2091V	False	False	False	False	False	P20929_2090_V
P20929	NEB	1211	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D1212E	False	False	False	False	False	P20929_1211_E
P35498	SCN1A	132	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L133P	False	False	False	False	False	P35498_132_P
P35498	SCN1A	1711	N	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1712D	False	False	False	False	False	P35498_1711_D
P35498	SCN1A	1674	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1675F	False	False	False	False	False	P35498_1674_F
Q14721	KCNB1	818	A	S	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A819S	False	False	False	False	False	Q14721_818_S
Q8IWE5	PLEKHM2	800	N	S	0	ClinVar	criteria provided, single submitter	0.029440628066732092	Pleckstrin homology domain-containing family M mem	N801S	False	False	False	False	False	Q8IWE5_800_S
Q00839	HNRNPU	464	P	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P465S	False	False	False	False	False	Q00839_464_S
P35498	SCN1A	1656	R	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1657L	False	False	False	False	False	P35498_1656_L
P12111	COL6A3	273	I	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I274T	False	False	False	False	False	P12111_273_T
P35498	SCN1A	1436	I	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1437K	False	False	False	False	False	P35498_1436_K
Q9NP73	ALG13	955	Q	E	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Q956E	False	False	False	False	False	Q9NP73_955_E
P20929	NEB	1561	V	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V1562A	False	False	False	False	False	P20929_1561_A
Q00839	HNRNPU	221	G	V	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G222V	False	False	False	False	False	Q00839_221_V
P20929	NEB	7117	G	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G7118R	False	False	False	False	False	P20929_7117_R
Q9NP73	ALG13	601	M	T	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	M602T	False	False	False	False	False	Q9NP73_601_T
P20929	NEB	3878	G	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G3879V	False	False	False	False	False	P20929_3878_V
P20929	NEB	508	P	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P509S	False	False	False	False	False	P20929_508_S
Q15031	LARS2	416	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	M417V	False	False	False	False	False	Q15031_416_V
P20929	NEB	7410	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7411K	False	False	False	False	False	P20929_7410_K
P20929	NEB	8300	H	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H8301N	False	False	False	False	False	P20929_8300_N
Q5T481	RBM20	817	A	T	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	A818T	False	False	False	False	False	Q5T481_817_T
Q14721	KCNB1	521	Q	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	Q522L	False	False	False	False	False	Q14721_521_L
P54098	POLG	929	D	G	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	D930G	False	False	False	False	False	P54098_929_G
P20929	NEB	1728	M	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1729V	False	False	False	False	False	P20929_1728_V
P20929	NEB	2385	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H2386R	False	False	False	False	False	P20929_2385_R
P12109	COL6A1	172	E	K	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E173K	False	False	False	False	False	P12109_172_K
P35498	SCN1A	811	T	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T812P	False	False	False	False	False	P35498_811_P
O60741	HCN1	386	A	G	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A387G	False	False	False	False	False	O60741_386_G
P11498	PC	1164	D	Y	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	D1165Y	False	False	False	False	False	P11498_1164_Y
P12109	COL6A1	379	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019455252918287938	Collagen alpha-1(VI) chain	G380R	False	False	False	False	False	P12109_379_R
Q00839	HNRNPU	279	D	N	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	D280N	False	False	False	False	False	Q00839_279_N
Q00839	HNRNPU	771	N	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	N772S	False	False	False	False	False	Q00839_771_S
P20929	NEB	8195	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y8196H	False	False	False	False	False	P20929_8195_H
P20929	NEB	785	I	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I786M	False	False	False	False	False	P20929_785_M
P12111	COL6A3	1841	G	R	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G1842R	False	False	False	False	False	P12111_1841_R
P05166	PCCB	161	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G162R	False	False	False	False	False	P05166_161_R
P20929	NEB	2017	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A2018T	False	False	False	False	False	P20929_2017_T
P54098	POLG	1105	V	I	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	V1106I	False	False	False	False	False	P54098_1105_I
P54098	POLG	929	D	N	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	D930N	False	False	False	False	False	P54098_929_N
P54098	POLG	913	T	A	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	T914A	False	False	False	False	False	P54098_913_A
P54098	POLG	806	R	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R807P	False	False	False	False	False	P54098_806_P
P54098	POLG	624	P	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	P625R	False	False	False	False	False	P54098_624_R
O00142	TK2	116	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	M117V	False	False	False	False	False	O00142_116_V
P20929	NEB	3008	K	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K3009Q	False	False	False	False	False	P20929_3008_Q
P20929	NEB	3673	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I3674V	False	False	False	False	False	P20929_3673_V
P20929	NEB	525	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y526H	False	False	False	False	False	P20929_525_H
Q13496	MTM1	262	V	I	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	V263I	False	False	False	False	False	Q13496_262_I
O95140	MFN2	355	T	S	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	T356S	False	False	False	False	False	O95140_355_S
P68133	ACTA1	269	G	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G270S	False	False	False	False	False	P68133_269_S
P68133	ACTA1	252	G	D	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G253D	False	False	False	False	False	P68133_252_D
P68133	ACTA1	112	N	S	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N113S	False	False	False	False	False	P68133_112_S
Q16854	DGUOK	0	M	T	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	M1T	True	False	False	False	True	Q16854_0_T
P35498	SCN1A	1834	L	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1835F	False	False	False	False	False	P35498_1834_F
P35498	SCN1A	1769	I	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1770N	False	False	False	False	False	P35498_1769_N
P35498	SCN1A	1502	E	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	E1503K	False	False	False	False	False	P35498_1502_K
P35498	SCN1A	1389	V	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1390L	False	False	False	False	False	P35498_1389_L
P35498	SCN1A	954	T	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T955I	False	False	False	False	False	P35498_954_I
P35498	SCN1A	841	L	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L842R	False	False	False	False	False	P35498_841_R
P35498	SCN1A	395	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G396E	False	False	False	False	False	P35498_395_E
P35498	SCN1A	339	S	F	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S340F	False	False	False	False	False	P35498_339_F
P35498	SCN1A	174	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A175V	False	False	False	False	False	P35498_174_V
P35498	SCN1A	92	L	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L93S	False	False	False	False	False	P35498_92_S
P35498	SCN1A	75	P	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P76T	False	False	False	False	False	P35498_75_T
P49821	NDUFV1	210	A	V	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	A211V	False	False	False	False	False	P49821_210_V
P12883	MYH7	716	D	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D717G	False	False	False	False	False	P12883_716_G
P12883	MYH7	316	E	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	E317G	False	False	False	False	False	P12883_316_G
Q5T481	RBM20	1004	D	G	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D1005G	False	False	False	False	False	Q5T481_1004_G
Q13496	MTM1	261	D	N	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	D262N	False	False	False	False	False	Q13496_261_N
P20929	NEB	8507	V	M	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V8508M	False	False	False	False	False	P20929_8507_M
P35498	SCN1A	1496	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1497G	False	False	False	False	False	P35498_1496_G
P23378	GLDC	884	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	L885P	False	False	False	False	False	P23378_884_P
P23378	GLDC	758	P	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P759R	False	False	False	False	False	P23378_758_R
P23378	GLDC	727	G	E	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	G728E	False	False	False	False	False	P23378_727_E
P23378	GLDC	607	Y	D	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Y608D	False	False	False	False	False	P23378_607_D
P23378	GLDC	197	D	E	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	D198E	False	False	False	False	False	P23378_197_E
P23378	GLDC	163	Y	H	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	Y164H	False	False	False	False	False	P23378_163_H
Q9P0K9	FRRS1L	103	K	E	1	ClinVar	criteria provided, single submitter	0.027303754266211604	DOMON domain-containing protein FRRS1L (Brain prot	K104E	False	False	False	False	False	Q9P0K9_103_E
Q96RR1	TWNK	333	R	P	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R334P	False	False	False	False	False	Q96RR1_333_P
P12109	COL6A1	886	E	K	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	E887K	False	False	False	False	False	P12109_886_K
Q15049	MLC1	211	G	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	G212E	False	False	False	False	False	Q15049_211_E
P08559	PDHA1	127	G	D	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G128D	False	False	False	True	False	P08559_127_D
P08559	PDHA1	171	P	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P172L	False	False	False	True	False	P08559_171_L
P08559	PDHA1	329	A	G	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A330G	False	False	False	True	False	P08559_329_G
Q5ST30	VARS2	815	N	K	0	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	N816K	False	False	False	False	False	Q5ST30_815_K
Q8TAB3	PCDH19	392	P	L	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	P393L	False	False	False	False	False	Q8TAB3_392_L
Q8TAB3	PCDH19	376	D	N	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D377N	False	False	False	False	False	Q8TAB3_376_N
P51608	MECP2	305	R	G	0	ClinVar	criteria provided, single submitter	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	R306G	False	False	False	False	False	P51608_305_G
P20929	NEB	8068	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S8069L	False	False	False	False	False	P20929_8068_L
P20929	NEB	6647	S	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S6648L	False	False	False	False	False	P20929_6647_L
P20929	NEB	6074	H	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H6075R	False	False	False	False	False	P20929_6074_R
P20929	NEB	8447	S	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S8448F	False	False	False	False	False	P20929_8447_F
Q9UM47	NOTCH3	205	C	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C206Y	False	False	True	True	False	Q9UM47_205_Y
P21817	RYR1	4892	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R4893L	False	False	False	False	False	P21817_4892_L
P05166	PCCB	0	M	R	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	M1R	True	False	False	False	True	P05166_0_R
Q14721	KCNB1	482	L	F	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	L483F	False	False	False	False	False	Q14721_482_F
P16389	KCNA2	329	L	F	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	L330F	False	False	False	False	False	P16389_329_F
O43526	KCNQ2	555	K	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K556R	False	False	False	False	False	O43526_555_R
P20929	NEB	2952	L	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L2953S	False	False	False	False	False	P20929_2952_S
P08559	PDHA1	262	R	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R263L	False	False	False	True	False	P08559_262_L
P35498	SCN1A	473	S	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S474R	False	False	False	False	False	P35498_473_R
O43526	KCNQ2	241	C	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	C242F	False	False	True	True	False	O43526_241_F
P35498	SCN1A	1773	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1774L	False	False	False	False	False	P35498_1773_L
P35498	SCN1A	376	R	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R377P	False	False	False	False	False	P35498_376_P
P20929	NEB	540	P	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P541R	False	False	False	False	False	P20929_540_R
O43526	KCNQ2	244	L	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L245V	False	False	False	False	False	O43526_244_V
P16389	KCNA2	397	G	D	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	G398D	False	False	False	False	False	P16389_397_D
Q00839	HNRNPU	110	G	A	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G111A	False	False	False	False	False	Q00839_110_A
Q00839	HNRNPU	736	P	L	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P737L	False	False	False	False	False	Q00839_736_L
P12109	COL6A1	879	G	R	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G880R	False	False	False	False	False	P12109_879_R
O95140	MFN2	105	S	N	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S106N	False	False	False	False	False	O95140_105_N
P68133	ACTA1	93	N	Y	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	N94Y	False	False	False	False	False	P68133_93_Y
P20929	NEB	528	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K529E	False	False	False	False	False	P20929_528_E
Q05193	DNM1	65	R	P	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	R66P	False	False	False	False	False	Q05193_65_P
P35498	SCN1A	1231	S	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1232I	False	False	False	False	False	P35498_1231_I
P35498	SCN1A	1240	Y	D	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1241D	False	False	False	False	False	P35498_1240_D
P16389	KCNA2	164	I	K	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	I165K	False	False	False	False	False	P16389_164_K
O43526	KCNQ2	265	D	H	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D266H	False	False	False	False	False	O43526_265_H
P20929	NEB	5927	I	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I5928F	False	False	False	False	False	P20929_5927_F
P61764	STXBP1	313	K	N	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	K314N	False	False	False	False	False	P61764_313_N
P35498	SCN1A	1755	C	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1756R	False	False	True	True	False	P35498_1755_R
P35498	SCN1A	1475	N	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1476I	False	False	False	False	False	P35498_1475_I
O95140	MFN2	258	R	S	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	R259S	False	False	False	False	False	O95140_258_S
P05166	PCCB	153	P	L	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	P154L	False	False	False	False	False	P05166_153_L
Q14721	KCNB1	393	G	E	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G394E	False	False	False	False	False	Q14721_393_E
P05166	PCCB	244	G	C	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G245C	False	True	False	True	False	P05166_244_C
Q5T481	RBM20	1222	E	K	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	E1223K	False	False	False	False	False	Q5T481_1222_K
P35498	SCN1A	1665	S	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1666T	False	False	False	False	False	P35498_1665_T
P35498	SCN1A	1442	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1443G	False	False	False	False	False	P35498_1442_G
P09471	GNAO1	210	K	Q	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	K211Q	False	False	False	False	False	P09471_210_Q
Q96CU9	FOXRED1	306	G	R	1	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	G307R	False	False	False	False	False	Q96CU9_306_R
P54098	POLG	598	T	I	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	T599I	False	False	False	False	False	P54098_598_I
P35498	SCN1A	1513	L	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1514I	False	False	False	False	False	P35498_1513_I
Q00839	HNRNPU	289	L	F	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	L290F	False	False	False	False	False	Q00839_289_F
P12883	MYH7	907	L	M	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L908M	False	False	False	False	False	P12883_907_M
P20929	NEB	1820	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1821T	False	False	False	False	False	P20929_1820_T
Q5T481	RBM20	1070	T	I	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	T1071I	False	False	False	False	False	Q5T481_1070_I
P12111	COL6A3	340	R	C	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R341C	False	True	False	True	False	P12111_340_C
Q9Y276	BCS1L	128	G	E	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	G129E	False	False	False	False	False	Q9Y276_128_E
P35498	SCN1A	952	I	M	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I953M	False	False	False	False	False	P35498_952_M
Q8TAB3	PCDH19	165	Y	D	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	Y166D	False	False	False	False	False	Q8TAB3_165_D
P09471	GNAO1	272	D	G	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	D273G	False	False	False	False	False	P09471_272_G
P20929	NEB	1893	R	W	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R1894W	False	False	False	False	False	P20929_1893_W
Q14721	KCNB1	582	R	Q	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R583Q	False	False	False	False	False	Q14721_582_Q
P15924	DSP	204	V	M	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V205M	False	False	False	False	False	P15924_204_M
Q96CU9	FOXRED1	291	G	V	1	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	G292V	False	False	False	False	False	Q96CU9_291_V
P35498	SCN1A	216	T	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T217I	False	False	False	False	False	P35498_216_I
Q14721	KCNB1	79	D	G	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	D80G	False	False	False	False	False	Q14721_79_G
Q6PJG6	BRAT1	0	M	V	1	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	M1V	True	False	False	True	True	Q6PJG6_0_V
P12109	COL6A1	547	D	N	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D548N	False	False	False	False	False	P12109_547_N
O75899	GABBR2	913	C	Y	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	C914Y	False	False	True	True	False	O75899_913_Y
Q00839	HNRNPU	229	A	P	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A230P	False	False	False	False	False	Q00839_229_P
P12111	COL6A3	203	T	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	T204S	False	False	False	False	False	P12111_203_S
P35498	SCN1A	1346	I	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1347V	False	False	False	False	False	P35498_1346_V
P12883	MYH7	1532	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1533P	False	False	False	False	False	P12883_1532_P
O43526	KCNQ2	578	L	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L579V	False	False	False	False	False	O43526_578_V
Q14721	KCNB1	469	E	D	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	E470D	False	False	False	False	False	Q14721_469_D
Q5T481	RBM20	796	H	N	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	H797N	False	False	False	False	False	Q5T481_796_N
P20929	NEB	1416	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D1417E	False	False	False	False	False	P20929_1416_E
P54098	POLG	852	R	G	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R853G	False	False	False	False	False	P54098_852_G
P12111	COL6A3	538	S	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S539T	False	False	False	False	False	P12111_538_T
Q00839	HNRNPU	57	G	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G58R	False	False	False	False	False	Q00839_57_R
P11498	PC	1039	Q	R	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	Q1040R	False	False	False	False	False	P11498_1039_R
P12883	MYH7	903	R	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R904S	False	False	False	False	False	P12883_903_S
Q13496	MTM1	588	P	R	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P589R	False	False	False	False	False	Q13496_588_R
Q5T481	RBM20	34	P	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P35S	True	False	False	False	True	Q5T481_34_S
P12883	MYH7	397	G	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G398R	False	False	False	False	False	P12883_397_R
P20929	NEB	1524	F	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F1525L	False	False	False	False	False	P20929_1524_L
Q5TEU4	NDUFAF5	0	M	I	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M1I	True	False	False	False	True	Q5TEU4_0_I
Q14721	KCNB1	27	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A28T	True	False	False	False	True	Q14721_27_T
O60741	HCN1	672	L	R	0	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	L673R	False	False	False	False	False	O60741_672_R
P35498	SCN1A	1638	R	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1639C	False	True	False	True	False	P35498_1638_C
P20929	NEB	1421	E	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E1422A	False	False	False	False	False	P20929_1421_A
P12111	COL6A3	198	N	H	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	N199H	False	False	False	False	False	P12111_198_H
P12111	COL6A3	208	I	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I209T	False	False	False	False	False	P12111_208_T
P35498	SCN1A	1214	V	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1215I	False	False	False	False	False	P35498_1214_I
P12111	COL6A3	2992	R	G	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R2993G	False	False	False	False	False	P12111_2992_G
P12883	MYH7	867	A	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A868T	False	False	False	False	False	P12883_867_T
P09471	GNAO1	106	V	L	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	V107L	False	False	False	False	False	P09471_106_L
O43526	KCNQ2	265	D	N	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D266N	False	False	False	False	False	O43526_265_N
Q9UQD0	SCN8A	1877	P	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	P1878R	False	False	False	False	False	Q9UQD0_1877_R
O14647	CHD2	1260	W	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	W1261S	False	False	False	False	False	O14647_1260_S
Q00839	HNRNPU	427	L	F	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	L428F	False	False	False	False	False	Q00839_427_F
P35498	SCN1A	373	S	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S374P	False	False	False	False	False	P35498_373_P
O75899	GABBR2	87	I	N	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	I88N	False	False	False	False	False	O75899_87_N
P35498	SCN1A	1360	F	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1361V	False	False	False	False	False	P35498_1360_V
P35498	SCN1A	1283	W	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1284C	False	True	False	True	False	P35498_1283_C
Q00839	HNRNPU	202	A	P	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	A203P	False	False	False	False	False	Q00839_202_P
P20929	NEB	7957	T	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T7958P	False	False	False	False	False	P20929_7957_P
Q14721	KCNB1	329	E	Q	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	E330Q	False	False	False	False	False	Q14721_329_Q
P54098	POLG	647	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	P648S	False	False	False	False	False	P54098_647_S
P09471	GNAO1	273	L	I	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	L274I	False	False	False	False	False	P09471_273_I
P35498	SCN1A	1781	I	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1782V	False	False	False	False	False	P35498_1781_V
Q00577	PURA	0	M	T	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	M1T	True	False	False	False	True	Q00577_0_T
Q00577	PURA	37	G	R	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G38R	True	False	False	False	True	Q00577_37_R
P12883	MYH7	492	M	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M493R	False	False	False	False	False	P12883_492_R
Q9UQD0	SCN8A	872	G	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G873R	False	False	False	False	False	Q9UQD0_872_R
O43526	KCNQ2	332	R	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R333L	False	False	False	False	False	O43526_332_L
Q14721	KCNB1	263	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A264T	False	False	False	False	False	Q14721_263_T
Q9UQD0	SCN8A	844	S	C	1	ClinVar	reviewed by expert panel	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S845C	False	True	False	True	False	Q9UQD0_844_C
P20929	NEB	3209	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T3210I	False	False	False	False	False	P20929_3209_I
P16389	KCNA2	338	V	F	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	V339F	False	False	False	False	False	P16389_338_F
P35498	SCN1A	1656	R	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1657S	False	False	False	False	False	P35498_1656_S
P09471	GNAO1	269	N	H	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	N270H	False	False	False	False	False	P09471_269_H
O95140	MFN2	233	M	L	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M234L	False	False	False	False	False	O95140_233_L
P20929	NEB	8009	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y8010C	False	True	False	True	False	P20929_8009_C
P35498	SCN1A	360	G	C	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G361C	False	True	False	True	False	P35498_360_C
Q00839	HNRNPU	337	M	T	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	M338T	False	False	False	False	False	Q00839_337_T
P35498	SCN1A	1772	S	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1773P	False	False	False	False	False	P35498_1772_P
O43526	KCNQ2	291	L	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	L292F	False	False	False	False	False	O43526_291_F
P16389	KCNA2	306	L	V	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	L307V	False	False	False	False	False	P16389_306_V
O75112	LDB3	113	N	S	0	ClinVar	criteria provided, single submitter	0.027510316368638238	LIM domain-binding protein 3 (Protein cypher) (Z-b	N114S	False	False	False	False	False	O75112_113_S
P12111	COL6A3	2858	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P2859L	False	False	False	False	False	P12111_2858_L
P54098	POLG	1133	H	Q	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	H1134Q	False	False	False	False	False	P54098_1133_Q
Q5T481	RBM20	820	K	R	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	K821R	False	False	False	False	False	Q5T481_820_R
Q8TAB3	PCDH19	139	E	K	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	E140K	False	False	False	False	False	Q8TAB3_139_K
O43526	KCNQ2	304	F	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	F305S	False	False	False	False	False	O43526_304_S
P20929	NEB	1767	D	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D1768A	False	False	False	False	False	P20929_1767_A
P35498	SCN1A	208	L	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L209R	False	False	False	False	False	P35498_208_R
P13533	MYH6	1344	L	P	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Myosin-6 (Myosin heavy chain 6) (Myosin heavy chai	L1345P	False	False	False	False	False	P13533_1344_P
P49821	NDUFV1	39	R	G	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R40G	True	False	False	False	True	P49821_39_G
Q14721	KCNB1	579	I	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I580V	False	False	False	False	False	Q14721_579_V
Q00839	HNRNPU	361	G	V	1	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G362V	False	False	False	False	False	Q00839_361_V
P12883	MYH7	846	K	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K847T	False	False	False	False	False	P12883_846_T
P35498	SCN1A	967	C	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C968S	False	False	True	True	False	P35498_967_S
Q9UQD0	SCN8A	1644	M	I	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	M1645I	False	False	False	False	False	Q9UQD0_1644_I
P20929	NEB	7382	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7383T	False	False	False	False	False	P20929_7382_T
Q9UQD0	SCN8A	407	A	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A408S	False	False	False	False	False	Q9UQD0_407_S
P20929	NEB	6755	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I6756T	False	False	False	False	False	P20929_6755_T
P35498	SCN1A	411	F	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F412L	False	False	False	False	False	P35498_411_L
P35498	SCN1A	1851	M	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M1852V	False	False	False	False	False	P35498_1851_V
P20929	NEB	7448	A	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A7449S	False	False	False	False	False	P20929_7448_S
O60741	HCN1	293	A	V	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	A294V	False	False	False	False	False	O60741_293_V
P09493	TPM1	53	E	A	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E54A	False	False	False	False	False	P09493_53_A
P35498	SCN1A	935	D	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D936G	False	False	False	False	False	P35498_935_G
Q8NCM2	KCNH5	326	R	S	1	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	R327S	False	False	False	False	False	Q8NCM2_326_S
P35498	SCN1A	1421	Y	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1422H	False	False	False	False	False	P35498_1421_H
Q9UQD0	SCN8A	1649	A	P	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	A1650P	False	False	False	False	False	Q9UQD0_1649_P
P12883	MYH7	138	V	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	V139L	False	False	False	False	False	P12883_138_L
P05166	PCCB	364	C	Y	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	C365Y	False	False	True	True	False	P05166_364_Y
P35498	SCN1A	1418	G	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1419R	False	False	False	False	False	P35498_1418_R
P35498	SCN1A	1654	G	W	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1655W	False	False	False	False	False	P35498_1654_W
P35498	SCN1A	360	G	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G361S	False	False	False	False	False	P35498_360_S
P20929	NEB	1059	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S1060N	False	False	False	False	False	P20929_1059_N
Q9UQD0	SCN8A	1479	F	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F1480V	False	False	False	False	False	Q9UQD0_1479_V
P09493	TPM1	144	E	K	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E145K	False	False	False	False	False	P09493_144_K
P20929	NEB	145	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T146I	False	False	False	False	False	P20929_145_I
O95571	ETHE1	0	M	L	1	ClinVar	criteria provided, single submitter	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	M1L	True	False	False	True	True	O95571_0_L
P61764	STXBP1	249	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Q250R	False	False	False	False	False	P61764_249_R
P20929	NEB	123	R	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R124T	False	False	False	False	False	P20929_123_T
Q14721	KCNB1	429	I	V	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	I430V	False	False	False	False	False	Q14721_429_V
P35498	SCN1A	1323	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1324P	False	False	False	False	False	P35498_1323_P
P35498	SCN1A	1398	L	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L1399P	False	False	False	False	False	P35498_1398_P
Q5T481	RBM20	283	G	E	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G284E	False	False	False	False	False	Q5T481_283_E
P54098	POLG	850	T	N	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	T851N	False	False	False	False	False	P54098_850_N
Q8NCM2	KCNH5	723	S	L	0	ClinVar	criteria provided, single submitter	0.020242914979757085	Voltage-gated delayed rectifier potassium channel 	S724L	False	False	False	False	False	Q8NCM2_723_L
P35498	SCN1A	401	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F402L	False	False	False	False	False	P35498_401_L
Q9Y2Z9	COQ6	13	A	G	0	ClinVar	criteria provided, single submitter	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	A14G	True	False	False	False	True	Q9Y2Z9_13_G
Q00839	HNRNPU	4	P	S	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P5S	True	False	False	False	True	Q00839_4_S
P68133	ACTA1	206	E	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E207V	False	False	False	False	False	P68133_206_V
Q9UQD0	SCN8A	1481	T	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	T1482N	False	False	False	False	False	Q9UQD0_1481_N
P09471	GNAO1	128	M	I	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	M129I	False	False	False	False	False	P09471_128_I
Q14721	KCNB1	616	G	E	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G617E	False	False	False	False	False	Q14721_616_E
P20929	NEB	1183	M	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1184I	False	False	False	False	False	P20929_1183_I
P61764	STXBP1	485	M	T	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M486T	False	False	False	False	False	P61764_485_T
Q12860	CNTN1	18	L	S	0	ClinVar	criteria provided, single submitter	0.014734774066797643	Contactin-1 (Glycoprotein gp135) (Neural cell surf	L19S	True	False	False	False	True	Q12860_18_S
P22626	HNRNPA2B1	272	G	S	0	ClinVar	criteria provided, single submitter	0.0028328611898017	Heterogeneous nuclear ribonucleoproteins A2/B1 (hn	G273S	False	False	False	False	False	P22626_272_S
Q9UQD0	SCN8A	1626	I	T	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1627T	False	False	False	False	False	Q9UQD0_1626_T
O95140	MFN2	126	G	R	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	G127R	False	False	False	False	False	O95140_126_R
P35498	SCN1A	172	I	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I173N	False	False	False	False	False	P35498_172_N
P20929	NEB	1906	M	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M1907I	False	False	False	False	False	P20929_1906_I
P35498	SCN1A	1544	I	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1545T	False	False	False	False	False	P35498_1544_T
O43526	KCNQ2	349	N	Y	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	N350Y	False	False	False	False	False	O43526_349_Y
P35498	SCN1A	1635	R	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1636L	False	False	False	False	False	P35498_1635_L
P35498	SCN1A	392	R	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R393G	False	False	False	False	False	P35498_392_G
P12883	MYH7	538	M	T	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M539T	False	False	False	False	False	P12883_538_T
P12111	COL6A3	191	P	R	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P192R	False	False	False	False	False	P12111_191_R
O43526	KCNQ2	562	D	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	D563E	False	False	False	False	False	O43526_562_E
Q00577	PURA	9	Q	L	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	Q10L	True	False	False	False	True	Q00577_9_L
P12111	COL6A3	682	F	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	F683L	False	False	False	False	False	P12111_682_L
P19429	TNNI3	136	G	S	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	G137S	False	False	False	False	False	P19429_136_S
P35498	SCN1A	104	T	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T105S	False	False	False	False	False	P35498_104_S
P20929	NEB	5946	S	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S5947N	False	False	False	False	False	P20929_5946_N
P12883	MYH7	248	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R249P	False	False	False	False	False	P12883_248_P
P12111	COL6A3	2653	D	N	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	D2654N	False	False	False	False	False	P12111_2653_N
P35498	SCN1A	1818	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1819T	False	False	False	False	False	P35498_1818_T
O00429	DNM1L	495	T	R	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	T496R	False	False	False	False	False	O00429_495_R
O14647	CHD2	711	K	E	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K712E	False	False	False	False	False	O14647_711_E
Q5T481	RBM20	1048	P	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P1049S	False	False	False	False	False	Q5T481_1048_S
P35498	SCN1A	120	A	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A121G	False	False	False	False	False	P35498_120_G
O43526	KCNQ2	227	H	D	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	H228D	False	False	False	False	False	O43526_227_D
O43526	KCNQ2	0	M	L	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M1L	True	False	False	False	True	O43526_0_L
P61764	STXBP1	74	Y	H	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Y75H	False	False	False	False	False	P61764_74_H
Q9NP73	ALG13	1114	I	V	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	I1115V	False	False	False	False	False	Q9NP73_1114_V
P20929	NEB	3250	A	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A3251E	False	False	False	False	False	P20929_3250_E
P35498	SCN1A	1753	G	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G1754A	False	False	False	False	False	P35498_1753_A
P35498	SCN1A	1811	W	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1812L	False	False	False	False	False	P35498_1811_L
P20929	NEB	1246	V	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V1247F	False	False	False	False	False	P20929_1246_F
P51608	MECP2	401	P	S	0	ClinVar	criteria provided, single submitter	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	P402S	False	False	False	False	False	P51608_401_S
P35498	SCN1A	1117	A	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1118S	False	False	False	False	False	P35498_1117_S
O60706	ABCC9	421	N	K	1	ClinVar	criteria provided, single submitter	0.016139444803098774	ATP-binding cassette sub-family C member 9 (Sulfon	N422K	False	False	False	False	False	O60706_421_K
P20929	NEB	8424	G	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G8425R	False	False	False	False	False	P20929_8424_R
P09622	DLD	0	M	I	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	M1I	True	False	False	False	True	P09622_0_I
Q9UQD0	SCN8A	1458	F	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F1459L	False	False	False	False	False	Q9UQD0_1458_L
Q14721	KCNB1	846	G	A	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G847A	False	False	False	False	False	Q14721_846_A
O75899	GABBR2	310	M	V	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	M311V	False	False	False	False	False	O75899_310_V
P20929	NEB	1180	K	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1181E	False	False	False	False	False	P20929_1180_E
Q15031	LARS2	221	E	G	0	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	E222G	False	False	False	False	False	Q15031_221_G
O95363	FARS2	308	G	R	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	G309R	False	False	False	False	False	O95363_308_R
P20929	NEB	8045	G	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G8046R	False	False	False	False	False	P20929_8045_R
P20929	NEB	1025	H	Y	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H1026Y	False	False	False	False	False	P20929_1025_Y
P20929	NEB	3450	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L3451F	False	False	False	False	False	P20929_3450_F
P20929	NEB	3274	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I3275T	False	False	False	False	False	P20929_3274_T
P20929	NEB	952	N	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N953S	False	False	False	False	False	P20929_952_S
P12109	COL6A1	910	N	D	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	N911D	False	False	False	False	False	P12109_910_D
O95140	MFN2	723	L	I	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L724I	False	False	False	False	False	O95140_723_I
P20929	NEB	1958	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K1959T	False	False	False	False	False	P20929_1958_T
Q5T481	RBM20	299	Q	H	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	Q300H	False	False	False	False	False	Q5T481_299_H
P12109	COL6A1	705	A	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A706S	False	False	False	False	False	P12109_705_S
P20929	NEB	6093	A	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A6094S	False	False	False	False	False	P20929_6093_S
P12109	COL6A1	210	R	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R211H	False	False	False	False	False	P12109_210_H
P20929	NEB	46	T	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T47A	True	False	False	False	True	P20929_46_A
P20929	NEB	513	A	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A514G	False	False	False	False	False	P20929_513_G
P20929	NEB	7146	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7147K	False	False	False	False	False	P20929_7146_K
P39210	MPV17	97	P	Q	1	ClinVar	criteria provided, single submitter	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	P98Q	False	False	False	False	False	P39210_97_Q
P05166	PCCB	204	V	G	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	V205G	False	False	False	False	False	P05166_204_G
Q5T481	RBM20	938	D	E	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D939E	False	False	False	False	False	Q5T481_938_E
P20929	NEB	469	F	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F470C	False	True	False	True	False	P20929_469_C
P20929	NEB	2248	H	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H2249P	False	False	False	False	False	P20929_2248_P
P20929	NEB	7903	R	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R7904H	False	False	False	False	False	P20929_7903_H
Q9NP73	ALG13	339	Y	C	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Y340C	False	True	False	True	False	Q9NP73_339_C
P12111	COL6A3	367	A	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A368V	False	False	False	False	False	P12111_367_V
P12109	COL6A1	946	S	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	S947L	False	False	False	False	False	P12109_946_L
P20929	NEB	6534	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K6535R	False	False	False	False	False	P20929_6534_R
P20929	NEB	3462	V	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V3463I	False	False	False	False	False	P20929_3462_I
Q13496	MTM1	155	E	K	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	E156K	False	False	False	False	False	Q13496_155_K
P20929	NEB	5833	N	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N5834S	False	False	False	False	False	P20929_5833_S
P20929	NEB	6140	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D6141E	False	False	False	False	False	P20929_6140_E
P12111	COL6A3	39	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I40V	True	False	False	False	True	P12111_39_V
P20929	NEB	8219	E	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E8220D	False	False	False	False	False	P20929_8219_D
P20929	NEB	1120	Q	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q1121H	False	False	False	False	False	P20929_1120_H
P20929	NEB	6751	V	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	V6752G	False	False	False	False	False	P20929_6751_G
P20929	NEB	664	S	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S665I	False	False	False	False	False	P20929_664_I
P20929	NEB	8052	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I8053V	False	False	False	False	False	P20929_8052_V
P49821	NDUFV1	30	S	P	0	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	S31P	True	False	False	False	True	P49821_30_P
P12109	COL6A1	996	A	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A997S	False	False	False	False	False	P12109_996_S
P19971	TYMP	130	P	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	P131S	False	False	False	False	False	P19971_130_S
Q9UHN1	POLG2	312	H	P	0	ClinVar	criteria provided, single submitter	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	H313P	False	False	False	False	False	Q9UHN1_312_P
Q9NP73	ALG13	901	S	L	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S902L	False	False	False	False	False	Q9NP73_901_L
P20929	NEB	6073	D	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D6074V	False	False	False	False	False	P20929_6073_V
P20929	NEB	891	I	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I892V	False	False	False	False	False	P20929_891_V
P12109	COL6A1	241	N	D	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	N242D	False	False	False	False	False	P12109_241_D
P20929	NEB	1871	P	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P1872A	False	False	False	False	False	P20929_1871_A
Q96AD5	PNPLA2	81	G	D	1	ClinVar	criteria provided, single submitter	0.023809523809523808	Patatin-like phospholipase domain-containing prote	G82D	False	False	False	False	False	Q96AD5_81_D
P20929	NEB	5608	P	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P5609R	False	False	False	False	False	P20929_5608_R
P11498	PC	594	A	S	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A595S	False	False	False	False	False	P11498_594_S
Q15526	SURF1	0	M	L	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	M1L	True	False	False	False	True	Q15526_0_L
P35498	SCN1A	414	I	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I415T	False	False	False	False	False	P35498_414_T
P20929	NEB	2047	P	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P2048T	False	False	False	False	False	P20929_2047_T
P36776	LONP1	813	A	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A814V	False	False	False	False	False	P36776_813_V
P20929	NEB	6399	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6400H	False	False	False	False	False	P20929_6399_H
P11498	PC	1069	R	W	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R1070W	False	False	False	False	False	P11498_1069_W
P20929	NEB	7187	G	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G7188V	False	False	False	False	False	P20929_7187_V
P12109	COL6A1	612	P	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P613S	False	False	False	False	False	P12109_612_S
Q9NP73	ALG13	995	S	N	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	S996N	False	False	False	False	False	Q9NP73_995_N
P11498	PC	29	R	W	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R30W	True	False	False	False	True	P11498_29_W
P20929	NEB	113	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A114V	False	False	False	False	False	P20929_113_V
P12111	COL6A3	741	H	Q	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	H742Q	False	False	False	False	False	P12111_741_Q
Q9NP73	ALG13	785	Q	H	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	Q786H	False	False	False	False	False	Q9NP73_785_H
P20929	NEB	3239	S	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S3240T	False	False	False	False	False	P20929_3239_T
P11498	PC	1131	A	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	A1132T	False	False	False	False	False	P11498_1131_T
Q5T481	RBM20	729	G	E	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	G730E	False	False	False	False	False	Q5T481_729_E
P54098	POLG	1050	G	A	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	G1051A	False	False	False	False	False	P54098_1050_A
O95140	MFN2	723	L	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	L724V	False	False	False	False	False	O95140_723_V
P12109	COL6A1	277	G	V	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G278V	False	False	False	False	False	P12109_277_V
P20929	NEB	2158	M	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M2159R	False	False	False	False	False	P20929_2158_R
Q5T481	RBM20	683	R	K	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R684K	False	False	False	False	False	Q5T481_683_K
P20929	NEB	2401	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K2402R	False	False	False	False	False	P20929_2401_R
P48728	AMT	72	R	G	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R73G	False	False	False	False	False	P48728_72_G
P20929	NEB	5711	D	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D5712G	False	False	False	False	False	P20929_5711_G
O14647	CHD2	1099	A	P	0	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A1100P	False	False	False	False	False	O14647_1099_P
Q8NI60	COQ8A	291	H	Q	0	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	H292Q	False	False	False	False	False	Q8NI60_291_Q
P20929	NEB	2959	T	I	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T2960I	False	False	False	False	False	P20929_2959_I
P35498	SCN1A	1837	P	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P1838L	False	False	False	False	False	P35498_1837_L
P35498	SCN1A	1773	F	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1774S	False	False	False	False	False	P35498_1773_S
P35498	SCN1A	414	I	K	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I415K	False	False	False	False	False	P35498_414_K
O95363	FARS2	276	M	V	0	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	M277V	False	False	False	False	False	O95363_276_V
P20929	NEB	6230	A	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A6231E	False	False	False	False	False	P20929_6230_E
P20929	NEB	7636	E	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7637V	False	False	False	False	False	P20929_7636_V
P05166	PCCB	245	G	D	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G246D	False	False	False	False	False	P05166_245_D
P20929	NEB	8004	F	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	F8005C	False	True	False	True	False	P20929_8004_C
P11498	PC	1158	K	E	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	K1159E	False	False	False	False	False	P11498_1158_E
P05166	PCCB	436	G	C	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	G437C	False	True	False	True	False	P05166_436_C
P35498	SCN1A	78	D	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D79E	False	False	False	False	False	P35498_78_E
P20929	NEB	1342	H	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H1343Q	False	False	False	False	False	P20929_1342_Q
P20929	NEB	8252	I	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I8253T	False	False	False	False	False	P20929_8252_T
P20929	NEB	6503	D	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D6504V	False	False	False	False	False	P20929_6503_V
Q9NP73	ALG13	172	A	G	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	A173G	False	False	False	False	False	Q9NP73_172_G
Q5T481	RBM20	702	R	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R703S	False	False	False	False	False	Q5T481_702_S
P20929	NEB	322	I	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I323N	False	False	False	False	False	P20929_322_N
O14647	CHD2	1212	S	P	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S1213P	False	False	False	False	False	O14647_1212_P
Q13224	GRIN2B	123	L	V	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	L124V	False	False	False	False	False	Q13224_123_V
O00555	CACNA1A	499	T	A	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T500A	False	False	False	False	False	O00555_499_A
Q14315	FLNC	2317	R	W	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R2318W	False	False	False	False	False	Q14315_2317_W
O00555	CACNA1A	1693	V	F	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1694F	False	False	False	False	False	O00555_1693_F
O00555	CACNA1A	666	E	A	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E667A	False	False	False	False	False	O00555_666_A
O00555	CACNA1A	813	D	N	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D814N	False	False	False	False	False	O00555_813_N
Q99715	COL12A1	2937	R	H	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R2938H	False	False	False	False	False	Q99715_2937_H
Q14315	FLNC	557	R	G	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R558G	False	False	False	False	False	Q14315_557_G
Q99715	COL12A1	2946	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P2947L	False	False	False	False	False	Q99715_2946_L
P54802	NAGLU	454	Y	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.010767160161507403	Alpha-N-acetylglucosaminidase (EC 3.2.1.50) (N-ace	Y455S	False	False	False	False	False	P54802_454_S
O76039	CDKL5	378	L	R	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L379R	False	False	False	False	False	O76039_378_R
O00555	CACNA1A	1448	L	M	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	L1449M	False	False	False	False	False	O00555_1448_M
Q99715	COL12A1	1715	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P1716L	False	False	False	False	False	Q99715_1715_L
Q13224	GRIN2B	170	I	F	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I171F	False	False	False	False	False	Q13224_170_F
Q99250	SCN2A	1672	I	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1673F	False	False	False	False	False	Q99250_1672_F
Q99250	SCN2A	378	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R379C	False	True	False	True	False	Q99250_378_C
P15924	DSP	637	T	I	1	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T638I	False	False	False	False	False	P15924_637_I
O76039	CDKL5	901	Q	H	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Q902H	False	False	False	False	False	O76039_901_H
Q13224	GRIN2B	938	R	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R939L	False	False	False	False	False	Q13224_938_L
P06753	TPM3	150	E	A	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	E151A	False	False	False	False	False	P06753_150_A
O14521	SDHD	0	M	T	1	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	M1T	True	False	False	True	True	O14521_0_T
O76039	CDKL5	368	G	E	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G369E	False	False	False	False	False	O76039_368_E
Q14315	FLNC	1626	R	G	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	R1627G	False	False	False	False	False	Q14315_1626_G
O00555	CACNA1A	2140	E	G	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	E2141G	False	False	False	False	False	O00555_2140_G
Q13224	GRIN2B	66	R	W	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R67W	False	False	False	False	False	Q13224_66_W
O00555	CACNA1A	983	R	G	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R984G	False	False	False	False	False	O00555_983_G
Q99715	COL12A1	2857	P	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P2858L	False	False	False	False	False	Q99715_2857_L
P15924	DSP	2698	E	Q	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E2699Q	False	False	False	False	False	P15924_2698_Q
O00555	CACNA1A	2092	M	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	M2093V	False	False	False	False	False	O00555_2092_V
Q99715	COL12A1	2656	S	L	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S2657L	False	False	False	False	False	Q99715_2656_L
Q99715	COL12A1	2342	V	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V2343I	False	False	False	False	False	Q99715_2342_I
Q14315	FLNC	1372	V	L	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V1373L	False	False	False	False	False	Q14315_1372_L
P15924	DSP	1012	Y	C	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y1013C	False	True	False	True	False	P15924_1012_C
P35609	ACTN2	660	A	V	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A661V	False	False	False	False	False	P35609_660_V
P15924	DSP	949	I	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	I950V	False	False	False	False	False	P15924_949_V
P15924	DSP	1914	R	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R1915S	False	False	False	False	False	P15924_1914_S
P15924	DSP	1190	E	D	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E1191D	False	False	False	False	False	P15924_1190_D
O95831	AIFM1	57	G	V	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G58V	False	False	False	False	False	O95831_57_V
Q99715	COL12A1	2052	Q	R	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	Q2053R	False	False	False	False	False	Q99715_2052_R
Q99250	SCN2A	623	N	S	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N624S	False	False	False	False	False	Q99250_623_S
O00555	CACNA1A	1119	A	T	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1120T	False	False	False	False	False	O00555_1119_T
Q99715	COL12A1	835	G	R	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G836R	False	False	False	False	False	Q99715_835_R
P15924	DSP	1626	K	N	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K1627N	False	False	False	False	False	P15924_1626_N
Q14315	FLNC	2462	K	R	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	K2463R	False	False	False	False	False	Q14315_2462_R
Q99715	COL12A1	375	R	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R376Q	False	False	False	False	False	Q99715_375_Q
Q13224	GRIN2B	1439	A	S	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1440S	False	False	False	False	False	Q13224_1439_S
Q14315	FLNC	2204	V	M	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V2205M	False	False	False	False	False	Q14315_2204_M
O00555	CACNA1A	2207	R	Q	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R2208Q	False	False	False	False	False	O00555_2207_Q
Q99250	SCN2A	1628	R	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R1629P	False	False	False	False	False	Q99250_1628_P
O00555	CACNA1A	1729	F	L	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	F1730L	False	False	False	False	False	O00555_1729_L
O95831	AIFM1	519	A	V	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	A520V	False	False	False	False	False	O95831_519_V
Q99250	SCN2A	1878	M	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1879I	False	False	False	False	False	Q99250_1878_I
O95831	AIFM1	398	G	S	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	G399S	False	False	False	False	False	O95831_398_S
Q99715	COL12A1	1336	N	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	N1337I	False	False	False	False	False	Q99715_1336_I
P15924	DSP	1690	D	N	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	D1691N	False	False	False	False	False	P15924_1690_N
O00555	CACNA1A	490	T	I	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T491I	False	False	False	False	False	O00555_490_I
O00555	CACNA1A	1357	R	Q	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	R1358Q	False	False	False	False	False	O00555_1357_Q
P15924	DSP	2087	A	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A2088S	False	False	False	False	False	P15924_2087_S
O76039	CDKL5	635	A	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A636S	False	False	False	False	False	O76039_635_S
Q14315	FLNC	2278	V	M	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V2279M	False	False	False	False	False	Q14315_2278_M
Q99715	COL12A1	414	P	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P415S	False	False	False	False	False	Q99715_414_S
Q13224	GRIN2B	1183	G	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G1184S	False	False	False	False	False	Q13224_1183_S
Q14315	FLNC	2478	D	N	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	D2479N	False	False	False	False	False	Q14315_2478_N
O95831	AIFM1	85	K	N	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	K86N	False	False	False	False	False	O95831_85_N
Q14315	FLNC	1605	M	I	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	M1606I	False	False	False	False	False	Q14315_1605_I
O95831	AIFM1	186	V	I	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	V187I	False	False	False	False	False	O95831_186_I
P35609	ACTN2	371	A	G	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A372G	False	False	False	False	False	P35609_371_G
P15924	DSP	2435	D	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	D2436V	False	False	False	False	False	P15924_2435_V
P15924	DSP	1816	V	M	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V1817M	False	False	False	False	False	P15924_1816_M
Q99715	COL12A1	988	G	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G989A	False	False	False	False	False	Q99715_988_A
Q13224	GRIN2B	595	G	S	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G596S	False	False	False	False	False	Q13224_595_S
Q13224	GRIN2B	120	T	I	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T121I	False	False	False	False	False	Q13224_120_I
Q14315	FLNC	871	A	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A872S	False	False	False	False	False	Q14315_871_S
Q99250	SCN2A	262	A	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A263G	False	False	False	False	False	Q99250_262_G
P15924	DSP	1381	M	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	M1382R	False	False	False	False	False	P15924_1381_R
P15924	DSP	1565	L	M	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	L1566M	False	False	False	False	False	P15924_1565_M
O00555	CACNA1A	987	G	S	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G988S	False	False	False	False	False	O00555_987_S
O76039	CDKL5	138	E	A	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E139A	False	False	False	False	False	O76039_138_A
O00555	CACNA1A	1808	I	V	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I1809V	False	False	False	False	False	O00555_1808_V
O76039	CDKL5	24	G	V	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	G25V	True	False	False	False	True	O76039_24_V
Q99250	SCN2A	1458	F	L	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F1459L	False	False	False	False	False	Q99250_1458_L
O00555	CACNA1A	182	A	T	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A183T	False	False	False	False	False	O00555_182_T
O76039	CDKL5	208	P	T	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P209T	False	False	False	False	False	O76039_208_T
P15924	DSP	1043	A	V	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A1044V	False	False	False	False	False	P15924_1043_V
Q99715	COL12A1	741	T	S	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T742S	False	False	False	False	False	Q99715_741_S
Q99715	COL12A1	2127	W	R	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	W2128R	False	False	False	False	False	Q99715_2127_R
Q13224	GRIN2B	177	G	D	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G178D	False	False	False	False	False	Q13224_177_D
Q14315	FLNC	1345	E	K	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	E1346K	False	False	False	False	False	Q14315_1345_K
P15924	DSP	159	R	G	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	R160G	False	False	False	False	False	P15924_159_G
O76039	CDKL5	174	R	K	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R175K	False	False	False	False	False	O76039_174_K
P45379	TNNT2	101	R	G	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R102G	False	False	False	False	False	P45379_101_G
Q13224	GRIN2B	535	V	A	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V536A	False	False	False	False	False	Q13224_535_A
Q13224	GRIN2B	554	S	T	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S555T	False	False	False	False	False	Q13224_554_T
Q13224	GRIN2B	516	E	K	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	E517K	False	False	False	False	False	Q13224_516_K
Q99250	SCN2A	891	V	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V892F	False	False	False	False	False	Q99250_891_F
Q99250	SCN2A	394	R	H	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R395H	False	False	False	False	False	Q99250_394_H
O00555	CACNA1A	1138	T	S	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T1139S	False	False	False	False	False	O00555_1138_S
P40939	HADHA	271	A	D	1	ClinVar	criteria provided, single submitter	0.01703800786369594	Trifunctional enzyme subunit alpha, mitochondrial 	A272D	False	False	False	False	False	P40939_271_D
O00555	CACNA1A	1892	N	S	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	N1893S	False	False	False	False	False	O00555_1892_S
P15924	DSP	2784	Y	C	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Y2785C	False	True	False	True	False	P15924_2784_C
O00555	CACNA1A	2015	A	T	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A2016T	False	False	False	False	False	O00555_2015_T
Q13224	GRIN2B	899	R	C	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	R900C	False	True	False	True	False	Q13224_899_C
Q96QS3	ARX	56	R	C	0	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	R57C	False	True	False	True	False	Q96QS3_56_C
O00555	CACNA1A	957	H	R	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	H958R	False	False	False	False	False	O00555_957_R
P21912	SDHB	216	R	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R217S	False	False	False	True	False	P21912_216_S
O00555	CACNA1A	1321	G	R	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G1322R	False	False	False	False	False	O00555_1321_R
Q99715	COL12A1	1064	V	I	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	V1065I	False	False	False	False	False	Q99715_1064_I
Q13224	GRIN2B	818	A	V	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A819V	False	False	False	False	False	Q13224_818_V
O00555	CACNA1A	1228	T	A	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	T1229A	False	False	False	False	False	O00555_1228_A
P35609	ACTN2	464	A	V	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	A465V	False	False	False	False	False	P35609_464_V
O76039	CDKL5	462	K	E	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	K463E	False	False	False	False	False	O76039_462_E
Q99250	SCN2A	1148	G	A	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1149A	False	False	False	False	False	Q99250_1148_A
O76039	CDKL5	132	H	Y	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	H133Y	False	False	False	False	False	O76039_132_Y
Q99250	SCN2A	1477	Q	H	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1478H	False	False	False	False	False	Q99250_1477_H
Q99643	SDHC	0	M	T	1	ClinVar	criteria provided, single submitter	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	M1T	True	False	False	False	True	Q99643_0_T
O00555	CACNA1A	316	M	L	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	M317L	False	False	False	False	False	O00555_316_L
Q99250	SCN2A	1802	E	V	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E1803V	False	False	False	False	False	Q99250_1802_V
Q99250	SCN2A	1710	T	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	T1711R	False	False	False	False	False	Q99250_1710_R
O00555	CACNA1A	875	G	D	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G876D	False	False	False	False	False	O00555_875_D
Q13224	GRIN2B	407	I	T	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	I408T	False	False	False	False	False	Q13224_407_T
Q99250	SCN2A	1280	I	M	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1281M	False	False	False	False	False	Q99250_1280_M
Q99250	SCN2A	1642	A	E	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	A1643E	False	False	False	False	False	Q99250_1642_E
O00555	CACNA1A	713	D	H	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	D714H	False	False	False	False	False	O00555_713_H
O76039	CDKL5	194	W	C	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	W195C	False	True	False	True	False	O76039_194_C
Q99250	SCN2A	978	L	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L979S	False	False	False	False	False	Q99250_978_S
P06753	TPM3	45	A	V	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	A46V	True	False	False	False	True	P06753_45_V
Q99715	COL12A1	645	Y	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	Y646N	False	False	False	False	False	Q99715_645_N
O76039	CDKL5	562	R	S	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	R563S	False	False	False	False	False	O76039_562_S
P55072	VCP	94	R	S	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	R95S	False	False	False	False	False	P55072_94_S
O00555	CACNA1A	155	G	V	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G156V	False	False	False	False	False	O00555_155_V
Q99715	COL12A1	2876	P	H	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	P2877H	False	False	False	False	False	Q99715_2876_H
Q13224	GRIN2B	181	F	L	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	F182L	False	False	False	False	False	Q13224_181_L
Q13224	GRIN2B	285	D	H	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D286H	False	False	False	False	False	Q13224_285_H
O76039	CDKL5	171	V	G	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	V172G	False	False	False	False	False	O76039_171_G
Q99715	COL12A1	1866	A	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A1867V	False	False	False	False	False	Q99715_1866_V
O76039	CDKL5	487	S	T	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	S488T	False	False	False	False	False	O76039_487_T
P15924	DSP	298	S	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	S299R	False	False	False	False	False	P15924_298_R
Q99250	SCN2A	975	N	H	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	N976H	False	False	False	False	False	Q99250_975_H
P68032	ACTC1	316	K	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	K317N	False	False	False	False	False	P68032_316_N
Q13224	GRIN2B	914	N	K	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N915K	False	False	False	False	False	Q13224_914_K
Q13224	GRIN2B	1263	D	E	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	D1264E	False	False	False	False	False	Q13224_1263_E
O76039	CDKL5	446	F	L	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	F447L	False	False	False	False	False	O76039_446_L
Q99715	COL12A1	1877	Y	C	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	Y1878C	False	True	False	True	False	Q99715_1877_C
O00555	CACNA1A	1390	A	V	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1391V	False	False	False	False	False	O00555_1390_V
O76039	CDKL5	20	E	K	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	E21K	True	False	False	False	True	O76039_20_K
O76039	CDKL5	856	P	R	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P857R	False	False	False	False	False	O76039_856_R
P15924	DSP	841	T	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T842S	False	False	False	False	False	P15924_841_S
P20929	NEB	1609	S	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S1610P	False	False	False	False	False	P20929_1609_P
P20929	NEB	2156	R	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R2157G	False	False	False	False	False	P20929_2156_G
P20929	NEB	3264	I	L	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I3265L	False	False	False	False	False	P20929_3264_L
Q16795	NDUFA9	55	A	V	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A56V	False	False	False	False	False	Q16795_55_V
Q8TAB3	PCDH19	145	T	M	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	T146M	False	False	False	False	False	Q8TAB3_145_M
Q00839	HNRNPU	180	K	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K181T	False	False	False	False	False	Q00839_180_T
P20929	NEB	101	K	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K102N	False	False	False	False	False	P20929_101_N
P08559	PDHA1	70	V	I	0	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V71I	False	False	False	True	False	P08559_70_I
P36776	LONP1	35	G	E	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	G36E	True	False	False	False	True	P36776_35_E
P20929	NEB	8513	T	A	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T8514A	False	False	False	False	False	P20929_8513_A
P20929	NEB	6230	A	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A6231T	False	False	False	False	False	P20929_6230_T
P12109	COL6A1	659	A	E	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A660E	False	False	False	False	False	P12109_659_E
P20929	NEB	7720	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K7721T	False	False	False	False	False	P20929_7720_T
Q00839	HNRNPU	185	K	M	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K186M	False	False	False	False	False	Q00839_185_M
Q00577	PURA	16	S	L	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	S17L	True	False	False	False	True	Q00577_16_L
P11498	PC	281	H	Q	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	H282Q	False	False	False	False	False	P11498_281_Q
P20929	NEB	2011	Q	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q2012H	False	False	False	False	False	P20929_2011_H
P20929	NEB	3220	H	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	H3221Q	False	False	False	False	False	P20929_3220_Q
P20929	NEB	3213	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D3214E	False	False	False	False	False	P20929_3213_E
P20929	NEB	6883	R	G	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	R6884G	False	False	False	False	False	P20929_6883_G
P20929	NEB	3521	K	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K3522Q	False	False	False	False	False	P20929_3521_Q
O75899	GABBR2	856	H	Q	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	H857Q	False	False	False	False	False	O75899_856_Q
Q00839	HNRNPU	175	Q	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	Q176R	False	False	False	False	False	Q00839_175_R
Q96CU9	FOXRED1	18	P	T	0	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	P19T	True	False	False	False	True	Q96CU9_18_T
P12111	COL6A3	758	Y	C	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	Y759C	False	True	False	True	False	P12111_758_C
P20929	NEB	7029	D	E	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D7030E	False	False	False	False	False	P20929_7029_E
P35498	SCN1A	1230	S	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1231N	False	False	False	False	False	P35498_1230_N
P20929	NEB	2689	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y2690H	False	False	False	False	False	P20929_2689_H
Q6PI48	DARS2	14	S	F	0	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	S15F	True	False	False	False	True	Q6PI48_14_F
P25705	ATP5F1A	453	D	H	0	ClinVar	criteria provided, single submitter	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	D454H	False	False	False	False	False	P25705_453_H
P49821	NDUFV1	39	R	W	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R40W	True	False	False	False	True	P49821_39_W
P20929	NEB	6724	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L6725F	False	False	False	False	False	P20929_6724_F
P20929	NEB	7474	M	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	M7475T	False	False	False	False	False	P20929_7474_T
P36776	LONP1	254	P	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	P255L	False	False	False	False	False	P36776_254_L
Q14721	KCNB1	472	G	D	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G473D	False	False	False	False	False	Q14721_472_D
P35498	SCN1A	1353	C	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1354G	False	False	True	True	False	P35498_1353_G
Q00839	HNRNPU	469	P	R	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	P470R	False	False	False	False	False	Q00839_469_R
P36776	LONP1	604	S	W	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	S605W	False	False	False	False	False	P36776_604_W
P20929	NEB	6695	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6696C	False	True	False	True	False	P20929_6695_C
Q5T481	RBM20	1063	D	G	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D1064G	False	False	False	False	False	Q5T481_1063_G
P12111	COL6A3	98	K	E	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	K99E	False	False	False	False	False	P12111_98_E
P20929	NEB	3918	D	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D3919H	False	False	False	False	False	P20929_3918_H
P20929	NEB	1028	N	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	N1029H	False	False	False	False	False	P20929_1028_H
P20929	NEB	2675	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E2676K	False	False	False	False	False	P20929_2675_K
Q5T481	RBM20	635	R	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	R636L	False	False	False	False	False	Q5T481_635_L
Q00839	HNRNPU	190	T	A	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	T191A	False	False	False	False	False	Q00839_190_A
P48728	AMT	82	H	P	1	ClinVar	criteria provided, single submitter	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	H83P	False	False	False	False	False	P48728_82_P
Q13496	MTM1	585	P	S	0	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	P586S	False	False	False	False	False	Q13496_585_S
P20929	NEB	2062	K	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K2063R	False	False	False	False	False	P20929_2062_R
P36776	LONP1	266	P	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	P267L	False	False	False	False	False	P36776_266_L
P11498	PC	1018	H	R	0	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	H1019R	False	False	False	False	False	P11498_1018_R
P20929	NEB	1799	P	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P1800S	False	False	False	False	False	P20929_1799_S
P20929	NEB	1363	L	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L1364P	False	False	False	False	False	P20929_1363_P
P36776	LONP1	739	E	K	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	E740K	False	False	False	False	False	P36776_739_K
P36776	LONP1	94	G	S	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	G95S	False	False	False	False	False	P36776_94_S
P20929	NEB	6562	P	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	P6563T	False	False	False	False	False	P20929_6562_T
P36776	LONP1	511	G	S	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	G512S	False	False	False	False	False	P36776_511_S
P20929	NEB	1521	L	F	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	L1522F	False	False	False	False	False	P20929_1521_F
P20929	NEB	7216	Y	H	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y7217H	False	False	False	False	False	P20929_7216_H
P20929	NEB	6380	Y	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Y6381C	False	True	False	True	False	P20929_6380_C
P20929	NEB	7686	G	D	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	G7687D	False	False	False	False	False	P20929_7686_D
Q14721	KCNB1	168	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A169T	False	False	False	False	False	Q14721_168_T
P20929	NEB	750	A	V	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	A751V	False	False	False	False	False	P20929_750_V
P20929	NEB	7803	E	K	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7804K	False	False	False	False	False	P20929_7803_K
O60220	TIMM8A	17	Q	R	0	ClinVar	criteria provided, single submitter	0.041237113402061855	Mitochondrial import inner membrane translocase su	Q18R	True	False	False	True	True	O60220_17_R
P20929	NEB	754	S	C	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S755C	False	True	False	True	False	P20929_754_C
P35498	SCN1A	767	P	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P768A	False	False	False	False	False	P35498_767_A
Q15526	SURF1	0	M	V	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	M1V	True	False	False	False	True	Q15526_0_V
O75899	GABBR2	752	A	S	0	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	A753S	False	False	False	False	False	O75899_752_S
P25705	ATP5F1A	523	G	D	0	ClinVar	criteria provided, single submitter	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	G524D	False	False	False	False	False	P25705_523_D
P12111	COL6A3	3174	M	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	M3175L	False	False	False	False	False	P12111_3174_L
O60313	OPA1	50	Q	R	0	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	Q51R	False	False	False	False	False	O60313_50_R
P20929	NEB	7416	E	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E7417Q	False	False	False	False	False	P20929_7416_Q
P20929	NEB	8057	Q	R	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	Q8058R	False	False	False	False	False	P20929_8057_R
Q9UL51	HCN2	459	G	D	1	ClinVar	criteria provided, single submitter	0.015748031496062992	Potassium/sodium hyperpolarization-activated cycli	G460D	False	False	False	False	False	Q9UL51_459_D
P08397	HMBS	83	A	D	1	ClinVar	no assertion criteria provided	0.0110803324099723	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (H	A84D	False	False	False	False	False	P08397_83_D
P35498	SCN1A	80	D	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D81N	False	False	False	False	False	P35498_80_N
P63267	ACTG2	177	R	S	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	R178S	False	False	False	False	False	P63267_177_S
P21817	RYR1	4934	G	D	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G4935D	False	False	False	False	False	P21817_4934_D
P10589	NR2F1	365	R	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R366C	False	True	False	True	False	P10589_365_C
Q14683	SMC1A	1039	E	K	1	ClinVar	criteria provided, single submitter	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	E1040K	False	False	False	False	False	Q14683_1039_K
P51608	MECP2	149	L	F	1	ClinVar	criteria provided, single submitter	0.006172839506172839	Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeC	L150F	False	False	False	False	False	P51608_149_F
Q9GZZ9	UBA5	180	C	Y	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	C181Y	False	False	True	True	False	Q9GZZ9_180_Y
P35498	SCN1A	428	Q	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q429K	False	False	False	False	False	P35498_428_K
Q05586	GRIN1	634	V	G	1	ClinVar	criteria provided, single submitter	0.01279317697228145	Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glu	V635G	False	False	False	False	False	Q05586_634_G
Q96JX3	SERAC1	409	W	R	1	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	W410R	False	False	False	False	False	Q96JX3_409_R
P39210	MPV17	167	Y	C	1	ClinVar	criteria provided, single submitter	0.022727272727272728	Mitochondrial inner membrane protein Mpv17 (Protei	Y168C	False	True	False	True	False	P39210_167_C
P08559	PDHA1	265	T	A	0	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T266A	False	False	False	True	False	P08559_265_A
Q9UM47	NOTCH3	88	G	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G89C	False	True	False	True	False	Q9UM47_88_C
P05166	PCCB	57	Q	P	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	Q58P	False	False	False	False	False	P05166_57_P
O95140	MFN2	233	M	I	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	M234I	False	False	False	False	False	O95140_233_I
Q96JX3	SERAC1	532	P	L	1	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	P533L	False	False	False	False	False	Q96JX3_532_L
Q13472	TOP3A	204	D	G	1	ClinVar	no assertion criteria provided	0.03396603396603397	DNA topoisomerase 3-alpha (EC 5.6.2.1) (DNA topois	D205G	False	False	False	True	False	Q13472_204_G
P20674	COX5A	88	I	S	1	ClinVar	no assertion criteria provided	0.02	Cytochrome c oxidase subunit 5A, mitochondrial (Cy	I89S	False	False	False	False	False	P20674_88_S
Q9Y606	PUS1	0	M	R	1	ClinVar	criteria provided, single submitter	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	M1R	True	False	False	False	True	Q9Y606_0_R
P13073	COX4I1	2	A	T	0	ClinVar	no assertion criteria provided	0.005917159763313609	Cytochrome c oxidase subunit 4 isoform 1, mitochon	A3T	True	False	False	False	True	P13073_2_T
Q9UKA2	FBXL4	65	G	E	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	G66E	False	False	False	True	False	Q9UKA2_65_E
Q9Y6N1	COX11	246	P	T	1	ClinVar	no assertion criteria provided	0.021739130434782608	Cytochrome c oxidase assembly protein COX11, mitoc	P247T	False	False	False	False	False	Q9Y6N1_246_T
Q96PR1	KCNC2	162	E	K	1	ClinVar	criteria provided, single submitter	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	E163K	False	False	False	False	False	Q96PR1_162_K
P47870	GABRB2	80	Y	C	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	Y81C	False	True	False	True	False	P47870_80_C
O95831	AIFM1	232	V	I	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	V233I	False	False	False	False	False	O95831_232_I
O95831	AIFM1	487	P	L	1	ClinVar	no assertion criteria provided	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	P488L	False	False	False	False	False	O95831_487_L
P08559	PDHA1	86	I	T	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	I87T	False	False	False	True	False	P08559_86_T
Q7LG56	RRM2B	157	A	T	1	ClinVar	criteria provided, single submitter	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	A158T	False	False	False	False	False	Q7LG56_157_T
P63267	ACTG2	9	V	M	1	ClinVar	criteria provided, single submitter	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	V10M	True	False	False	False	True	P63267_9_M
P12883	MYH7	456	I	K	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I457K	False	False	False	False	False	P12883_456_K
Q99807	COQ7	111	M	V	1	ClinVar	no assertion criteria provided	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	M112V	False	False	False	False	False	Q99807_111_V
Q9UQD0	SCN8A	835	D	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	D836V	False	False	False	False	False	Q9UQD0_835_V
P35498	SCN1A	1626	K	M	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	K1627M	False	False	False	False	False	P35498_1626_M
Q15049	MLC1	0	M	I	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	M1I	True	False	False	False	True	Q15049_0_I
P35498	SCN1A	235	I	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I236V	False	False	False	False	False	P35498_235_V
Q9H598	SLC32A1	268	L	Q	1	ClinVar	no assertion criteria provided	0.03238095238095238	Vesicular inhibitory amino acid transporter (GABA 	L269Q	False	False	False	True	False	Q9H598_268_Q
Q9UM47	NOTCH3	596	C	S	0	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C597S	False	False	True	True	False	Q9UM47_596_S
P05165	PCCA	270	E	V	0	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	E271V	False	False	False	False	False	P05165_270_V
Q9UM47	NOTCH3	188	Y	D	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	Y189D	False	False	False	True	False	Q9UM47_188_D
P21817	RYR1	2427	A	S	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	A2428S	False	False	False	False	False	P21817_2427_S
Q9Y276	BCS1L	8	A	T	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	A9T	True	False	False	False	True	Q9Y276_8_T
P05165	PCCA	165	P	T	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	P166T	False	False	False	False	False	P05165_165_T
Q8TF40	FNIP1	151	R	G	1	ClinVar	criteria provided, single submitter	0.030017152658662092	Folliculin-interacting protein 1	R152G	False	False	False	True	False	Q8TF40_151_G
Q9Y4W6	AFG3L2	528	A	V	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	A529V	False	False	False	False	False	Q9Y4W6_528_V
P05166	PCCB	387	L	H	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	L388H	False	False	False	False	False	P05166_387_H
P68133	ACTA1	256	F	L	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	F257L	False	False	False	False	False	P68133_256_L
P05166	PCCB	391	V	F	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	V392F	False	False	False	False	False	P05166_391_F
Q9Y223	GNE	167	L	P	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	L168P	False	False	False	False	False	Q9Y223_167_P
P49792	RANBP2	689	K	N	1	ClinVar	no assertion criteria provided	0.023883374689826303	E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kD	K690N	False	False	False	False	False	P49792_689_N
P02462	COL4A1	739	G	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G740R	False	False	False	False	False	P02462_739_R
Q32M45	ANO4	562	M	K	1	ClinVar	criteria provided, single submitter	0.020942408376963352	Anoctamin-4 (Transmembrane protein 16D)	M563K	False	False	False	False	False	Q32M45_562_K
Q32M45	ANO4	557	N	K	1	ClinVar	criteria provided, single submitter	0.020942408376963352	Anoctamin-4 (Transmembrane protein 16D)	N558K	False	False	False	False	False	Q32M45_557_K
Q32M45	ANO4	561	I	F	1	ClinVar	criteria provided, single submitter	0.020942408376963352	Anoctamin-4 (Transmembrane protein 16D)	I562F	False	False	False	False	False	Q32M45_561_F
Q32M45	ANO4	602	N	D	1	ClinVar	criteria provided, single submitter	0.020942408376963352	Anoctamin-4 (Transmembrane protein 16D)	N603D	False	False	False	False	False	Q32M45_602_D
Q32M45	ANO4	128	N	K	1	ClinVar	criteria provided, single submitter	0.020942408376963352	Anoctamin-4 (Transmembrane protein 16D)	N129K	False	False	False	False	False	Q32M45_128_K
P57059	SIK1	527	G	R	0	ClinVar	criteria provided, single submitter	0.024265644955300127	Serine/threonine-protein kinase SIK1 (EC 2.7.11.1)	G528R	False	False	False	False	False	P57059_527_R
Q14315	FLNC	28	A	E	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A29E	True	False	False	False	True	Q14315_28_E
P54098	POLG	954	Y	H	1	ClinVar	no assertion criteria provided	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	Y955H	False	False	False	False	False	P54098_954_H
P50993	ATP1A2	340	C	R	1	ClinVar	criteria provided, single submitter	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	C341R	False	False	True	True	False	P50993_340_R
P07333	CSF1R	779	A	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A780V	False	False	False	False	False	P07333_779_V
P22001	KCNA3	467	G	V	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	G468V	False	False	False	False	False	P22001_467_V
P22001	KCNA3	524	S	N	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	S525N	False	False	False	False	False	P22001_524_N
P22001	KCNA3	467	G	R	1	ClinVar	criteria provided, single submitter	0.020869565217391306	Potassium voltage-gated channel subfamily A member	G468R	False	False	False	False	False	P22001_467_R
Q9C0D0	PHACTR1	63	R	G	1	ClinVar	criteria provided, single submitter	0.013793103448275862	Phosphatase and actin regulator 1	R64G	False	False	False	False	False	Q9C0D0_63_G
O43526	KCNQ2	189	N	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	N190S	False	False	False	False	False	O43526_189_S
O43526	KCNQ2	254	K	Q	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K255Q	False	False	False	False	False	O43526_254_Q
Q9UM47	NOTCH3	173	C	S	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C174S	False	False	True	True	False	Q9UM47_173_S
P12883	MYH7	876	M	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	M877L	False	False	False	False	False	P12883_876_L
P09493	TPM1	143	Q	E	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	Q144E	False	False	False	False	False	P09493_143_E
Q9Y2Z9	COQ6	10	A	T	0	ClinVar	criteria provided, single submitter	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	A11T	True	False	False	False	True	Q9Y2Z9_10_T
Q12887	COX10	28	I	V	0	ClinVar	criteria provided, single submitter	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	I29V	True	False	False	False	True	Q12887_28_V
P24311	COX7B	28	R	C	0	ClinVar	criteria provided, single submitter	0.0125	Cytochrome c oxidase subunit 7B, mitochondrial (Cy	R29C	True	True	False	True	True	P24311_28_C
Q6PI48	DARS2	473	T	A	0	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	T474A	False	False	False	False	False	Q6PI48_473_A
Q9Y4W6	AFG3L2	92	M	T	0	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	M93T	False	False	False	False	False	Q9Y4W6_92_T
P42704	LRPPRC	729	A	S	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A730S	False	False	False	False	False	P42704_729_S
P42704	LRPPRC	1086	M	V	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	M1087V	False	False	False	False	False	P42704_1086_V
P36776	LONP1	22	M	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	M23L	True	False	False	False	True	P36776_22_L
Q9H845	ACAD9	488	V	A	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	V489A	False	False	False	False	False	Q9H845_488_A
Q8WYQ3	CHCHD10	135	H	Y	0	ClinVar	criteria provided, single submitter	0.028169014084507043	Coiled-coil-helix-coiled-coil-helix domain-contain	H136Y	False	False	False	False	False	Q8WYQ3_135_Y
Q00325	SLC25A3	42	P	S	0	ClinVar	criteria provided, single submitter	0.022099447513812154	Solute carrier family 25 member 3 (Phosphate carri	P43S	True	False	False	False	True	Q00325_42_S
Q9UQ90	SPG7	641	E	K	0	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	E642K	False	False	False	False	False	Q9UQ90_641_K
Q330K2	NDUFAF6	74	C	R	0	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	C75R	False	False	True	True	False	Q330K2_74_R
Q9UI09	NDUFA12	91	S	C	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	S92C	False	True	False	True	False	Q9UI09_91_C
Q16795	NDUFA9	4	A	V	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	A5V	True	False	False	False	True	Q16795_4_V
Q16795	NDUFA9	258	N	S	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	N259S	False	False	False	False	False	Q16795_258_S
Q9UHN1	POLG2	10	H	R	0	ClinVar	criteria provided, single submitter	0.02268041237113402	DNA polymerase subunit gamma-2 (DNA polymerase gam	H11R	True	False	False	False	True	Q9UHN1_10_R
O14521	SDHD	9	V	L	0	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	V10L	True	False	False	True	True	O14521_9_L
P21817	RYR1	241	R	K	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R242K	False	False	False	False	False	P21817_241_K
P21817	RYR1	1087	Y	C	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Y1088C	False	True	False	True	False	P21817_1087_C
P21817	RYR1	4646	L	Q	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L4647Q	False	False	False	False	False	P21817_4646_Q
Q13586	STIM1	97	Y	C	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	Y98C	False	True	False	True	False	Q13586_97_C
P07951	TPM2	1	D	G	1	ClinVar	criteria provided, single submitter	0.007042253521126761	Tropomyosin beta chain (Beta-tropomyosin) (Tropomy	D2G	True	False	False	False	True	P07951_1_G
P68133	ACTA1	155	D	H	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D156H	False	False	False	False	False	P68133_155_H
P31415	CASQ1	55	N	Y	1	ClinVar	criteria provided, single submitter	0.0	Calsequestrin-1 (Calmitine) (Calsequestrin, skelet	N56Y	False	False	False	False	False	P31415_55_Y
P17661	DES	316	A	P	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	A317P	False	False	False	False	False	P17661_316_P
P68133	ACTA1	67	T	N	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	T68N	False	False	False	False	False	P68133_67_N
Q9H3H5	DPAGT1	377	N	I	1	ClinVar	criteria provided, single submitter	0.02696078431372549	UDP-N-acetylglucosamine--dolichyl-phosphate N-acet	N378I	False	False	False	False	False	Q9H3H5_377_I
Q14315	FLNC	202	C	Y	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	C203Y	False	False	True	True	False	Q14315_202_Y
O95749	GGPS1	256	F	C	1	ClinVar	criteria provided, single submitter	0.01	Geranylgeranyl pyrophosphate synthase (GGPP syntha	F257C	False	True	False	True	False	O95749_256_C
P68133	ACTA1	115	A	P	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	A116P	False	False	False	False	False	P68133_115_P
P35475	IDUA	275	E	K	1	ClinVar	reviewed by expert panel	0.009188361408882083	Alpha-L-iduronidase (EC 3.2.1.76)	E276K	False	False	False	False	False	P35475_275_K
P12883	MYH7	1722	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1723P	False	False	False	False	False	P12883_1722_P
P20929	NEB	1679	Y	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.00809384164222874	Nebulin	Y1680C	False	True	False	True	False	P20929_1679_C
P68133	ACTA1	254	E	Q	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E255Q	False	False	False	False	False	P68133_254_Q
P21817	RYR1	114	M	I	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	M115I	False	False	False	False	False	P21817_114_I
Q8NI60	COQ8A	271	G	A	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	G272A	False	False	False	False	False	Q8NI60_271_A
Q96GW9	MARS2	0	M	V	1	ClinVar	criteria provided, single submitter	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	M1V	True	False	False	False	True	Q96GW9_0_V
Q96PR1	KCNC2	403	E	K	1	ClinVar	criteria provided, single submitter	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	E404K	False	False	False	False	False	Q96PR1_403_K
P09471	GNAO1	351	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	G352S	False	False	False	False	False	P09471_351_S
O14647	CHD2	644	T	R	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	T645R	False	False	False	False	False	O14647_644_R
O43526	KCNQ2	273	T	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	T274S	False	False	False	False	False	O43526_273_S
Q9UQ90	SPG7	0	M	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M1L	True	False	False	False	True	Q9UQ90_0_L
Q9UQ90	SPG7	436	L	P	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	L437P	False	False	False	False	False	Q9UQ90_436_P
P12110	COL6A2	595	T	I	0	ClinVar	no assertion criteria provided	0.020608439646712464	Collagen alpha-2(VI) chain	T596I	False	False	False	False	False	P12110_595_I
Q5T280	SPOUT1	97	G	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023936170212765957	28S rRNA (uridine-N(3))-methyltransferase (EC 2.1.	G98S	False	False	False	False	False	Q5T280_97_S
Q13586	STIM1	83	D	E	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	D84E	False	False	False	False	False	Q13586_83_E
Q14721	KCNB1	312	H	N	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	H313N	False	False	False	False	False	Q14721_312_N
Q99250	SCN2A	414	Y	H	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Y415H	False	False	False	False	False	Q99250_414_H
P21817	RYR1	2507	R	S	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	R2508S	False	False	False	False	False	P21817_2507_S
Q99250	SCN2A	1493	Q	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1494R	False	False	False	False	False	Q99250_1493_R
Q9UQD0	SCN8A	225	R	P	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	R226P	False	False	False	False	False	Q9UQD0_225_P
O00217	NDUFS8	125	I	V	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	I126V	False	False	False	True	False	O00217_125_V
Q9H845	ACAD9	563	E	K	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	E564K	False	False	False	False	False	Q9H845_563_K
Q9Y276	BCS1L	154	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	R155Q	False	False	False	False	False	Q9Y276_154_Q
P09622	DLD	86	P	S	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	P87S	False	False	False	False	False	P09622_86_S
Q9Y223	GNE	629	A	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	A630T	False	False	False	False	False	Q9Y223_629_T
P54098	POLG	918	M	V	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	M919V	False	False	False	False	False	P54098_918_V
P12883	MYH7	1044	R	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R1045S	False	False	False	False	False	P12883_1044_S
Q15031	LARS2	264	I	M	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	I265M	False	False	False	False	False	Q15031_264_M
O14647	CHD2	1142	Y	C	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	Y1143C	False	True	False	True	False	O14647_1142_C
Q9UQ90	SPG7	283	F	S	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	F284S	False	False	False	False	False	Q9UQ90_283_S
Q9UQ90	SPG7	0	M	I	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M1I	True	False	False	False	True	Q9UQ90_0_I
O76024	WFS1	679	E	Q	1	ClinVar	no assertion criteria provided	0.02247191011235955	Wolframin	E680Q	False	False	False	False	False	O76024_679_Q
O60313	OPA1	451	V	G	1	ClinVar	no assertion criteria provided	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	V452G	False	False	False	False	False	O60313_451_G
O76024	WFS1	432	A	P	1	ClinVar	no assertion criteria provided	0.02247191011235955	Wolframin	A433P	False	False	False	False	False	O76024_432_P
O95571	ETHE1	87	S	L	1	ClinVar	criteria provided, single submitter	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	S88L	False	False	False	True	False	O95571_87_L
P05165	PCCA	455	G	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	G456V	False	False	False	False	False	P05165_455_V
P11498	PC	899	M	K	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	M900K	False	False	False	False	False	P11498_899_K
P11498	PC	155	R	P	1	ClinVar	criteria provided, single submitter	0.011035653650254669	Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (	R156P	False	False	False	False	False	P11498_155_P
P68133	ACTA1	96	R	G	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	R97G	False	False	False	False	False	P68133_96_G
Q9ULP9	TBC1D24	0	M	T	1	ClinVar	criteria provided, single submitter	0.03577817531305903	TBC1 domain family member 24	M1T	True	False	False	True	True	Q9ULP9_0_T
P12883	MYH7	897	L	P	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L898P	False	False	False	False	False	P12883_897_P
O43526	KCNQ2	284	P	T	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	P285T	False	False	False	False	False	O43526_284_T
O43526	KCNQ2	293	A	E	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A294E	False	False	False	False	False	O43526_293_E
P28331	NDUFS1	182	I	S	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	I183S	False	False	False	False	False	P28331_182_S
O00555	CACNA1A	1843	G	D	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G1844D	False	False	False	False	False	O00555_1843_D
Q15878	CACNA1E	1232	A	T	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	A1233T	False	False	False	False	False	Q15878_1232_T
P47869	GABRA2	262	M	V	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	M263V	False	False	False	False	False	P47869_262_V
Q15526	SURF1	195	Q	R	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	Q196R	False	False	False	False	False	Q15526_195_R
Q9UQD0	SCN8A	1760	Y	C	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Y1761C	False	True	False	True	False	Q9UQD0_1760_C
P61764	STXBP1	30	L	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L31P	True	False	False	False	True	P61764_30_P
Q9BY32	ITPA	108	D	Y	1	ClinVar	criteria provided, single submitter	0.03608247422680412	Inosine triphosphate pyrophosphatase (ITPase) (Ino	D109Y	False	False	False	True	False	Q9BY32_108_Y
Q9H845	ACAD9	219	A	P	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A220P	False	False	False	False	False	Q9H845_219_P
O95571	ETHE1	77	T	I	1	ClinVar	criteria provided, single submitter	0.03543307086614173	Persulfide dioxygenase ETHE1, mitochondrial (EC 1.	T78I	False	False	False	True	False	O95571_77_I
Q9UM47	NOTCH3	145	C	G	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C146G	False	False	True	True	False	Q9UM47_145_G
Q5T160	RARS2	529	H	Y	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	H530Y	False	False	False	False	False	Q5T160_529_Y
Q00577	PURA	263	W	S	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	W264S	False	False	False	False	False	Q00577_263_S
P21912	SDHB	138	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	L139P	False	False	False	True	False	P21912_138_P
Q13586	STIM1	114	I	T	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	I115T	False	False	False	False	False	Q13586_114_T
Q9UQ90	SPG7	472	R	W	1	ClinVar	no assertion criteria provided	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	R473W	False	False	False	False	False	Q9UQ90_472_W
P16389	KCNA2	408	I	L	1	ClinVar	no assertion criteria provided	0.01603206412825651	Potassium voltage-gated channel subfamily A member	I409L	False	False	False	False	False	P16389_408_L
Q8NI60	COQ8A	206	P	L	1	ClinVar	no assertion criteria provided	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	P207L	False	False	False	False	False	Q8NI60_206_L
P19404	NDUFV2	115	A	P	1	ClinVar	no assertion criteria provided	0.020080321285140562	NADH dehydrogenase [ubiquinone] flavoprotein 2, mi	A116P	False	False	False	False	False	P19404_115_P
P08559	PDHA1	158	N	I	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	N159I	False	False	False	True	False	P08559_158_I
O43526	KCNQ2	187	Q	H	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Q188H	False	False	False	False	False	O43526_187_H
Q96RP9	GFM1	24	R	G	0	ClinVar	criteria provided, single submitter	0.015978695073235686	Elongation factor G, mitochondrial (EF-Gmt) (EC 3.	R25G	True	False	False	False	True	Q96RP9_24_G
Q9BQ52	ELAC2	629	R	G	0	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	R630G	False	False	False	False	False	Q9BQ52_629_G
Q96CU9	FOXRED1	104	Q	R	0	ClinVar	criteria provided, single submitter	0.012345679012345678	FAD-dependent oxidoreductase domain-containing pro	Q105R	False	False	False	False	False	Q96CU9_104_R
P12883	MYH7	198	A	E	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A199E	False	False	False	False	False	P12883_198_E
Q5T160	RARS2	218	V	I	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	V219I	False	False	False	False	False	Q5T160_218_I
Q96JX3	SERAC1	125	I	V	0	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	I126V	False	False	False	False	False	Q96JX3_125_V
P21912	SDHB	216	R	P	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	R217P	False	False	False	True	False	P21912_216_P
O75880	SCO1	171	V	I	0	ClinVar	criteria provided, single submitter	0.013289036544850499	Protein SCO1 homolog, mitochondrial	V172I	False	False	False	False	False	O75880_171_I
O43819	SCO2	195	K	E	0	ClinVar	criteria provided, single submitter	0.011278195488721804	Protein SCO2 homolog, mitochondrial	K196E	False	False	False	False	False	O43819_195_E
Q6DKK2	TTC19	293	R	H	0	ClinVar	criteria provided, single submitter	0.013157894736842105	Tetratricopeptide repeat protein 19, mitochondrial	R294H	False	False	False	False	False	Q6DKK2_293_H
P25705	ATP5F1A	108	L	F	1	ClinVar	criteria provided, single submitter	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	L109F	False	False	False	False	False	P25705_108_F
O75072	FKTN	304	W	C	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	W305C	False	True	False	True	False	O75072_304_C
Q15526	SURF1	176	V	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01	Surfeit locus protein 1	V177G	False	False	False	False	False	Q15526_176_G
Q9UJS0	SLC25A13	597	L	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	L598R	False	False	False	False	False	Q9UJS0_597_R
Q9NZC7	WWOX	11	T	M	1	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	T12M	True	False	False	False	True	Q9NZC7_11_M
P12883	MYH7	1680	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1681P	False	False	False	False	False	P12883_1680_P
P08559	PDHA1	104	E	K	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E105K	False	False	False	True	False	P08559_104_K
P47869	GABRA2	214	L	S	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	L215S	False	False	False	False	False	P47869_214_S
P47869	GABRA2	153	L	V	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	L154V	False	False	False	False	False	P47869_153_V
P35609	ACTN2	350	K	N	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	K351N	False	False	False	False	False	P35609_350_N
P12883	MYH7	147	S	I	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S148I	False	False	False	False	False	P12883_147_I
P12883	MYH7	242	R	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R243P	False	False	False	False	False	P12883_242_P
P45379	TNNT2	91	G	E	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	G92E	False	False	False	False	False	P45379_91_E
Q9UMS0	NFU1	240	V	L	1	ClinVar	no assertion criteria provided	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	V241L	False	False	False	False	False	Q9UMS0_240_L
Q9UMS0	NFU1	120	V	A	1	ClinVar	no assertion criteria provided	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	V121A	False	False	False	False	False	Q9UMS0_120_A
Q9UMS0	NFU1	98	L	V	1	ClinVar	no assertion criteria provided	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	L99V	False	False	False	False	False	Q9UMS0_98_V
Q9UMS0	NFU1	87	F	S	1	ClinVar	no assertion criteria provided	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	F88S	False	False	False	False	False	Q9UMS0_87_S
Q9UMS0	NFU1	20	R	P	1	ClinVar	no assertion criteria provided	0.011811023622047244	NFU1 iron-sulfur cluster scaffold homolog, mitocho	R21P	True	False	False	False	True	Q9UMS0_20_P
Q99714	HSD17B10	19	S	L	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	S20L	True	False	False	False	True	Q99714_19_L
P48728	AMT	319	R	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02481389578163772	Aminomethyltransferase, mitochondrial (EC 2.1.2.10	R320G	False	False	False	False	False	P48728_319_G
Q99250	SCN2A	155	K	N	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	K156N	False	False	False	False	False	Q99250_155_N
O76071	CIAO1	301	H	P	1	ClinVar	criteria provided, single submitter	0.05309734513274336	Probable cytosolic iron-sulfur protein assembly pr	H302P	False	False	False	True	False	O76071_301_P
O76071	CIAO1	170	D	G	1	ClinVar	no assertion criteria provided	0.05309734513274336	Probable cytosolic iron-sulfur protein assembly pr	D171G	False	False	False	True	False	O76071_170_G
O76071	CIAO1	250	H	L	1	ClinVar	no assertion criteria provided	0.05309734513274336	Probable cytosolic iron-sulfur protein assembly pr	H251L	False	False	False	True	False	O76071_250_L
Q9NZC2	TREM2	85	D	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.02608695652173913	Triggering receptor expressed on myeloid cells 2 (	D86V	False	False	False	False	False	Q9NZC2_85_V
O14647	CHD2	878	A	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	A879G	False	False	False	False	False	O14647_878_G
P54098	POLG	1160	R	G	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R1161G	False	False	False	False	False	P54098_1160_G
P19404	NDUFV2	0	M	L	1	ClinVar	criteria provided, single submitter	0.020080321285140562	NADH dehydrogenase [ubiquinone] flavoprotein 2, mi	M1L	True	False	False	False	True	P19404_0_L
Q9Y3A0	COQ4	70	A	T	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	A71T	False	False	False	False	False	Q9Y3A0_70_T
Q15526	SURF1	178	R	K	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	R179K	False	False	False	False	False	Q15526_178_K
O00429	DNM1L	369	F	S	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	F370S	False	False	False	False	False	O00429_369_S
O60741	HCN1	390	G	C	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	G391C	False	True	False	True	False	O60741_390_C
Q16740	CLPP	87	M	L	1	ClinVar	criteria provided, single submitter	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	M88L	False	False	False	False	False	Q16740_87_L
Q9UQD0	SCN8A	952	C	R	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	C953R	False	False	True	True	False	Q9UQD0_952_R
P61981	YWHAG	177	N	D	1	ClinVar	criteria provided, single submitter	0.012145748987854251	14-3-3 protein gamma (Protein kinase C inhibitor p	N178D	False	False	False	False	False	P61981_177_D
P28472	GABRB3	281	T	S	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	T282S	False	False	False	False	False	P28472_281_S
P07333	CSF1R	762	A	T	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	A763T	False	False	False	False	False	P07333_762_T
Q9UQD0	SCN8A	1654	G	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G1655S	False	False	False	False	False	Q9UQD0_1654_S
Q9UM47	NOTCH3	209	G	D	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G210D	False	False	False	True	False	Q9UM47_209_D
Q9UQ90	SPG7	0	M	T	1	ClinVar	criteria provided, single submitter	0.005031446540880503	Mitochondrial inner membrane m-AAA protease compon	M1T	True	False	False	False	True	Q9UQ90_0_T
Q14315	FLNC	1547	G	R	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G1548R	False	False	False	False	False	Q14315_1547_R
P43004	SLC1A2	497	K	R	0	ClinVar	criteria provided, single submitter	0.0156794425087108	Excitatory amino acid transporter 2 (Glutamate/asp	K498R	False	False	False	False	False	P43004_497_R
Q96FH0	BORCS8	65	T	P	1	ClinVar	no assertion criteria provided	0.008403361344537815	BLOC-1-related complex subunit 8 (MEF2B neighbor)	T66P	False	False	False	False	False	Q96FH0_65_P
Q96FH0	BORCS8	41	S	P	1	ClinVar	no assertion criteria provided	0.008403361344537815	BLOC-1-related complex subunit 8 (MEF2B neighbor)	S42P	True	False	False	False	True	Q96FH0_41_P
P08559	PDHA1	225	R	H	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R226H	False	False	False	True	False	P08559_225_H
Q9NZC7	WWOX	298	C	R	1	ClinVar	criteria provided, single submitter	0.01932367149758454	WW domain-containing oxidoreductase (EC 1.1.1.-) (	C299R	False	False	True	True	False	Q9NZC7_298_R
Q99250	SCN2A	1472	I	K	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1473K	False	False	False	False	False	Q99250_1472_K
Q5JUK3	KCNT1	436	L	P	1	ClinVar	criteria provided, single submitter	0.026829268292682926	Potassium channel subfamily T member 1 (KCa4.1) (K	L437P	False	False	False	False	False	Q5JUK3_436_P
Q99250	SCN2A	422	V	M	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V423M	False	False	False	False	False	Q99250_422_M
Q5TEU4	NDUFAF5	141	E	A	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	E142A	False	False	False	False	False	Q5TEU4_141_A
Q5JPH6	EARS2	0	M	V	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	M1V	True	False	False	False	True	Q5JPH6_0_V
P08559	PDHA1	244	R	G	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R245G	False	False	False	True	False	P08559_244_G
P28472	GABRB3	243	G	R	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	G244R	False	False	False	False	False	P28472_243_R
P14867	GABRA1	109	V	F	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	V110F	False	False	False	False	False	P14867_109_F
O75899	GABBR2	676	E	K	1	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	E677K	False	False	False	False	False	O75899_676_K
P13637	ATP1A3	838	L	P	1	ClinVar	criteria provided, single submitter	0.024679170779861797	Sodium/potassium-transporting ATPase subunit alpha	L839P	False	False	False	False	False	P13637_838_P
Q00577	PURA	193	G	W	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G194W	False	False	False	False	False	Q00577_193_W
P12883	MYH7	381	D	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D382N	False	False	False	False	False	P12883_381_N
O95140	MFN2	230	S	P	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	S231P	False	False	False	False	False	O95140_230_P
Q8WZ42	TTN	1535	A	V	1	ClinVar	criteria provided, single submitter	0.014934497816593886	Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma 	A1536V	False	False	False	False	False	Q8WZ42_1535_V
Q2TBA0	KLHL40	416	V	D	1	ClinVar	criteria provided, single submitter	0.027375201288244767	Kelch-like protein 40 (Kelch repeat and BTB domain	V417D	False	False	False	False	False	Q2TBA0_416_D
P38606	ATP6V1A	319	V	I	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	V320I	False	False	False	False	False	P38606_319_I
P47869	GABRA2	283	V	L	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	V284L	False	False	False	False	False	P47869_283_L
P31040	SDHA	414	T	I	1	ClinVar	criteria provided, single submitter	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	T415I	False	False	False	False	False	P31040_414_I
P10589	NR2F1	103	E	V	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	E104V	False	False	False	True	False	P10589_103_V
Q00577	PURA	65	V	A	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	V66A	False	False	False	False	False	Q00577_65_A
Q00577	PURA	90	V	G	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	V91G	False	False	False	False	False	Q00577_90_G
Q9UQD0	SCN8A	1557	N	K	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1558K	False	False	False	False	False	Q9UQD0_1557_K
Q99715	COL12A1	2782	G	D	1	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G2783D	False	False	False	False	False	Q99715_2782_D
P12883	MYH7	550	K	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K551N	False	False	False	False	False	P12883_550_N
P12111	COL6A3	2801	T	S	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	T2802S	False	False	False	False	False	P12111_2801_S
P11166	SLC2A1	125	R	G	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	R126G	False	False	False	False	False	P11166_125_G
Q9UM47	NOTCH3	510	C	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C511R	False	False	True	True	False	Q9UM47_510_R
P09493	TPM1	98	L	S	1	ClinVar	no assertion criteria provided	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	L99S	False	False	False	False	False	P09493_98_S
O76039	CDKL5	290	C	W	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	C291W	False	False	True	True	False	O76039_290_W
Q14683	SMC1A	638	V	M	1	ClinVar	criteria provided, single submitter	0.008921330089213302	Structural maintenance of chromosomes protein 1A (	V639M	False	False	False	False	False	Q14683_638_M
Q14721	KCNB1	377	V	I	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	V378I	False	False	False	False	False	Q14721_377_I
P35499	SCN4A	1249	M	R	1	ClinVar	criteria provided, single submitter	0.021241830065359478	Sodium channel protein type 4 subunit alpha (SkM1)	M1250R	False	False	False	False	False	P35499_1249_R
P07333	CSF1R	854	P	T	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	P855T	False	False	False	False	False	P07333_854_T
Q14721	KCNB1	331	G	D	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	G332D	False	False	False	False	False	Q14721_331_D
O43526	KCNQ2	301	V	F	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V302F	False	False	False	False	False	O43526_301_F
P68133	ACTA1	118	E	K	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E119K	False	False	False	False	False	P68133_118_K
O60741	HCN1	166	F	L	1	ClinVar	criteria provided, single submitter	0.012359550561797753	Potassium/sodium hyperpolarization-activated cycli	F167L	False	False	False	False	False	O60741_166_L
P50993	ATP1A2	814	P	R	1	ClinVar	criteria provided, single submitter	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	P815R	False	False	False	False	False	P50993_814_R
P35498	SCN1A	786	M	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	M787K	False	False	False	False	False	P35498_786_K
P68032	ACTC1	255	R	C	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-	R256C	False	True	False	True	False	P68032_255_C
O14647	CHD2	542	S	Y	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	S543Y	False	False	False	False	False	O14647_542_Y
P21817	RYR1	4555	L	P	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L4556P	False	False	False	False	False	P21817_4555_P
Q14315	FLNC	1423	G	V	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	G1424V	False	False	False	False	False	Q14315_1423_V
P68133	ACTA1	64	G	V	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G65V	False	False	False	False	False	P68133_64_V
Q9BUK6	MSTO1	449	L	F	1	ClinVar	criteria provided, single submitter	0.028070175438596492	Protein misato homolog 1	L450F	False	False	False	False	False	Q9BUK6_449_F
P05165	PCCA	251	S	R	1	ClinVar	criteria provided, single submitter	0.01510989010989011	Propionyl-CoA carboxylase alpha chain, mitochondri	S252R	False	False	False	False	False	P05165_251_R
P05166	PCCB	429	I	L	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	I430L	False	False	False	False	False	P05166_429_L
P15924	DSP	99	Q	H	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Q100H	False	False	False	False	False	P15924_99_H
Q9UQD0	SCN8A	198	F	C	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F199C	False	True	False	True	False	Q9UQD0_198_C
P21817	RYR1	4207	Q	R	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	Q4208R	False	False	False	False	False	P21817_4207_R
P12111	COL6A3	1162	I	T	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1163T	False	False	False	False	False	P12111_1162_T
P42263	GRIA3	786	E	K	1	ClinVar	criteria provided, single submitter	0.011185682326621925	Glutamate receptor 3 (GluR-3) (AMPA-selective glut	E787K	False	False	False	False	False	P42263_786_K
Q96QS3	ARX	0	M	T	1	ClinVar	criteria provided, single submitter	0.012455516014234875	Homeobox protein ARX (Aristaless-related homeobox)	M1T	True	False	False	False	True	Q96QS3_0_T
Q14315	FLNC	1728	P	S	1	ClinVar	no assertion criteria provided	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	P1729S	False	False	False	False	False	Q14315_1728_S
Q96N67	DOCK7	953	A	S	1	ClinVar	criteria provided, single submitter	0.01542056074766355	Dedicator of cytokinesis protein 7	A954S	False	False	False	False	False	Q96N67_953_S
P10589	NR2F1	104	G	A	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	G105A	False	False	False	True	False	P10589_104_A
Q96JX3	SERAC1	182	R	Q	1	ClinVar	criteria provided, single submitter	0.021406727828746176	Protein SERAC1 (Serine active site-containing prot	R183Q	False	False	False	False	False	Q96JX3_182_Q
P21817	RYR1	4742	G	V	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	G4743V	False	False	False	False	False	P21817_4742_V
P16389	KCNA2	379	M	I	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	M380I	False	False	False	False	False	P16389_379_I
P08559	PDHA1	353	T	A	0	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T354A	False	False	False	True	False	P08559_353_A
Q5T481	RBM20	877	P	T	0	ClinVar	criteria provided, multiple submitters, no conflicts	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P878T	False	False	False	False	False	Q5T481_877_T
P21912	SDHB	34	T	A	0	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	T35A	True	False	False	True	True	P21912_34_A
P21912	SDHB	82	V	I	0	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	V83I	False	False	False	True	False	P21912_82_I
Q5T3F8	TMEM63B	659	R	T	1	ClinVar	criteria provided, single submitter	0.03365384615384615	Mechanosensitive cation channel TMEM63B (Transmemb	R660T	False	False	False	True	False	Q5T3F8_659_T
Q5T3F8	TMEM63B	579	G	S	1	ClinVar	criteria provided, single submitter	0.03365384615384615	Mechanosensitive cation channel TMEM63B (Transmemb	G580S	False	False	False	True	False	Q5T3F8_579_S
Q9BUB7	TMEM70	40	S	F	0	ClinVar	criteria provided, single submitter	0.011538461538461539	Transmembrane protein 70, mitochondrial	S41F	True	False	False	False	True	Q9BUB7_40_F
P25705	ATP5F1A	527	A	T	0	ClinVar	criteria provided, single submitter	0.003616636528028933	ATP synthase F(1) complex subunit alpha, mitochond	A528T	False	False	False	False	False	P25705_527_T
P30049	ATP5F1D	104	A	T	0	ClinVar	criteria provided, single submitter	0.0	ATP synthase F(1) complex subunit delta, mitochond	A105T	False	False	False	False	False	P30049_104_T
P43897	TSFM	208	S	A	0	ClinVar	criteria provided, single submitter	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	S209A	False	False	False	False	False	P43897_208_A
Q00059	TFAM	19	E	D	0	ClinVar	criteria provided, single submitter	0.016260162601626018	Transcription factor A, mitochondrial (mtTFA) (Mit	E20D	True	False	False	False	True	Q00059_19_D
P22695	UQCRC2	220	I	V	0	ClinVar	criteria provided, single submitter	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	I221V	False	False	False	False	False	P22695_220_V
O14949	UQCRQ	63	T	N	0	ClinVar	criteria provided, single submitter	0.0	Cytochrome b-c1 complex subunit 8 (Complex III sub	T64N	False	False	False	False	False	O14949_63_N
Q5JTZ9	AARS2	780	V	I	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	V781I	False	False	False	False	False	Q5JTZ9_780_I
P24311	COX7B	5	K	R	0	ClinVar	criteria provided, single submitter	0.0125	Cytochrome c oxidase subunit 7B, mitochondrial (Cy	K6R	True	False	False	False	True	P24311_5_R
O95831	AIFM1	193	K	R	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	K194R	False	False	False	False	False	O95831_193_R
Q9NSE4	IARS2	829	I	M	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	I830M	False	False	False	False	False	Q9NSE4_829_M
Q9Y234	LIPT1	29	N	S	0	ClinVar	criteria provided, single submitter	0.029490616621983913	Lipoyl amidotransferase LIPT1, mitochondrial (EC 2	N30S	True	False	False	False	True	Q9Y234_29_S
P42704	LRPPRC	208	N	Y	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	N209Y	False	False	False	False	False	P42704_208_Y
P42704	LRPPRC	3	L	M	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	L4M	True	False	False	False	True	P42704_3_M
P42704	LRPPRC	1168	E	K	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	E1169K	False	False	False	False	False	P42704_1168_K
P36776	LONP1	807	E	D	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	E808D	False	False	False	False	False	P36776_807_D
P02462	COL4A1	1428	G	V	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G1429V	False	False	False	False	False	P02462_1428_V
P02462	COL4A1	1395	G	D	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G1396D	False	False	False	False	False	P02462_1395_D
P02462	COL4A1	1333	Q	H	0	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	Q1334H	False	False	False	False	False	P02462_1333_H
P02462	COL4A1	1259	G	R	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G1260R	False	False	False	False	False	P02462_1259_R
P02462	COL4A1	995	G	D	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G996D	False	False	False	False	False	P02462_995_D
P02462	COL4A1	710	G	A	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G711A	False	False	False	False	False	P02462_710_A
P02462	COL4A1	573	G	R	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G574R	False	False	False	False	False	P02462_573_R
P02462	COL4A1	494	G	E	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G495E	False	False	False	False	False	P02462_494_E
P02462	COL4A1	485	G	R	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G486R	False	False	False	False	False	P02462_485_R
P02462	COL4A1	457	G	V	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G458V	False	False	False	False	False	P02462_457_V
P02462	COL4A1	355	G	A	1	ClinVar	criteria provided, single submitter	0.011983223487118035	Collagen alpha-1(IV) chain [Cleaved into: Arresten	G356A	False	False	False	False	False	P02462_355_A
P49821	NDUFV1	0	M	I	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	M1I	True	False	False	False	True	P49821_0_I
Q12887	COX10	430	R	P	0	ClinVar	criteria provided, single submitter	0.02708803611738149	Protoheme IX farnesyltransferase, mitochondrial (E	R431P	False	False	False	False	False	Q12887_430_P
Q9Y606	PUS1	0	M	L	1	ClinVar	criteria provided, single submitter	0.0234192037470726	Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (	M1L	True	False	False	False	True	Q9Y606_0_L
P54098	POLG	385	R	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	R386P	False	False	False	False	False	P54098_385_P
Q5T160	RARS2	314	R	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	R315Q	False	False	False	False	False	Q5T160_314_Q
P09622	DLD	0	M	L	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	M1L	True	False	False	False	True	P09622_0_L
Q9UGJ0	PRKAG2	301	R	G	1	ClinVar	criteria provided, single submitter	0.005272407732864675	5'-AMP-activated protein kinase subunit gamma-2 (A	R302G	False	False	False	False	False	Q9UGJ0_301_G
O75072	FKTN	0	M	L	1	ClinVar	criteria provided, single submitter	0.019522776572668113	Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) 	M1L	True	False	False	False	True	O75072_0_L
Q13144	EIF2B5	304	M	V	1	ClinVar	criteria provided, single submitter	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	M305V	False	False	False	False	False	Q13144_304_V
Q9Y223	GNE	412	D	Y	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	D413Y	False	False	False	False	False	Q9Y223_412_Y
P23378	GLDC	949	H	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H950R	False	False	False	False	False	P23378_949_R
P23378	GLDC	235	R	Q	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	R236Q	False	False	False	False	False	P23378_235_Q
P50993	ATP1A2	978	P	K	1	ClinVar	criteria provided, single submitter	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	P979K	False	False	False	False	False	P50993_978_K
Q9H845	ACAD9	285	L	P	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	L286P	False	False	False	False	False	Q9H845_285_P
Q15049	MLC1	201	E	K	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	E202K	False	False	False	False	False	Q15049_201_K
Q96H96	COQ2	146	R	C	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	R147C	False	True	False	True	False	Q96H96_146_C
Q9UJS0	SLC25A13	348	I	T	1	ClinVar	criteria provided, single submitter	0.01037037037037037	Electrogenic aspartate/glutamate antiporter SLC25A	I349T	False	False	False	False	False	Q9UJS0_348_T
Q15526	SURF1	76	G	R	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	G77R	False	False	False	False	False	Q15526_76_R
Q15526	SURF1	0	M	R	1	ClinVar	criteria provided, single submitter	0.01	Surfeit locus protein 1	M1R	True	False	False	False	True	Q15526_0_R
P08559	PDHA1	249	P	T	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P250T	False	False	False	True	False	P08559_249_T
Q05193	DNM1	64	T	N	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	T65N	False	False	False	False	False	Q05193_64_N
P68133	ACTA1	46	V	E	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	V47E	True	False	False	False	True	P68133_46_E
P68133	ACTA1	75	G	D	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	G76D	False	False	False	False	False	P68133_75_D
Q9UM47	NOTCH3	54	C	G	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C55G	False	False	True	True	False	Q9UM47_54_G
Q16774	GUK1	0	M	R	1	ClinVar	no assertion criteria provided	0.005076142131979695	Guanylate kinase (EC 2.7.4.8) (GMP kinase) (Guanyl	M1R	True	False	False	False	True	Q16774_0_R
P28472	GABRB3	79	M	V	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	M80V	False	False	False	False	False	P28472_79_V
P68133	ACTA1	196	E	K	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	E197K	False	False	False	False	False	P68133_196_K
O95831	AIFM1	580	I	F	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	I581F	False	False	False	False	False	O95831_580_F
Q16740	CLPP	133	D	H	1	ClinVar	criteria provided, single submitter	0.018050541516245487	ATP-dependent Clp protease proteolytic subunit, mi	D134H	False	False	False	False	False	Q16740_133_H
O95831	AIFM1	152	R	W	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	R153W	False	False	False	False	False	O95831_152_W
O95831	AIFM1	230	K	E	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	K231E	False	False	False	False	False	O95831_230_E
Q9Y276	BCS1L	300	Y	C	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	Y301C	False	True	False	True	False	Q9Y276_300_C
Q15031	LARS2	397	I	T	1	ClinVar	criteria provided, single submitter	0.017718715393133997	Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (	I398T	False	False	False	False	False	Q15031_397_T
O95831	AIFM1	579	N	S	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	N580S	False	False	False	False	False	O95831_579_S
P28472	GABRB3	51	L	I	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	L52I	False	False	False	False	False	P28472_51_I
P12883	MYH7	271	R	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R272G	False	False	False	False	False	P12883_271_G
P36776	LONP1	85	S	P	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	S86P	False	False	False	False	False	P36776_85_P
P36776	LONP1	588	I	L	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	I589L	False	False	False	False	False	P36776_588_L
P36776	LONP1	32	T	I	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	T33I	True	False	False	False	True	P36776_32_I
P36776	LONP1	432	H	R	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	H433R	False	False	False	False	False	P36776_432_R
P12883	MYH7	1207	D	G	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D1208G	False	False	False	False	False	P12883_1207_G
Q5T481	RBM20	1188	N	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	N1189S	False	False	False	False	False	Q5T481_1188_S
Q5T481	RBM20	387	L	S	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	L388S	False	False	False	False	False	Q5T481_387_S
Q5TEU4	NDUFAF5	0	M	V	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	M1V	True	False	False	False	True	Q5TEU4_0_V
P36776	LONP1	150	E	K	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	E151K	False	False	False	False	False	P36776_150_K
P35498	SCN1A	1195	V	M	0	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V1196M	False	False	False	False	False	P35498_1195_M
Q00839	HNRNPU	214	K	T	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	K215T	False	False	False	False	False	Q00839_214_T
P12111	COL6A3	1331	I	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1332T	False	False	False	False	False	P12111_1331_T
Q9NP73	ALG13	624	P	L	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	P625L	False	False	False	False	False	Q9NP73_624_L
P36776	LONP1	258	A	V	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	A259V	False	False	False	False	False	P36776_258_V
P12111	COL6A3	2913	P	L	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	P2914L	False	False	False	False	False	P12111_2913_L
P20929	NEB	5999	I	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	I6000S	False	False	False	False	False	P20929_5999_S
P36776	LONP1	916	K	N	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	K917N	False	False	False	False	False	P36776_916_N
Q14721	KCNB1	521	Q	H	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	Q522H	False	False	False	False	False	Q14721_521_H
P12111	COL6A3	2946	A	T	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A2947T	False	False	False	False	False	P12111_2946_T
P20929	NEB	3672	S	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	S3673T	False	False	False	False	False	P20929_3672_T
P20929	NEB	3669	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K3670T	False	False	False	False	False	P20929_3669_T
Q5T160	RARS2	0	M	P	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	M1P	True	False	False	False	True	Q5T160_0_P
P09471	GNAO1	167	Y	D	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	Y168D	False	False	False	False	False	P09471_167_D
Q8TAB3	PCDH19	413	E	G	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.018292682926829267	Protocadherin-19	E414G	False	False	False	False	False	Q8TAB3_413_G
P35498	SCN1A	1844	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1845K	False	False	False	False	False	P35498_1844_K
P35498	SCN1A	1767	S	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	S1768I	False	False	False	False	False	P35498_1767_I
P35498	SCN1A	1754	D	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1755H	False	False	False	False	False	P35498_1754_H
P35498	SCN1A	1721	T	I	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1722I	False	False	False	False	False	P35498_1721_I
P35498	SCN1A	1657	T	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T1658A	False	False	False	False	False	P35498_1657_A
P35498	SCN1A	1488	Q	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Q1489E	False	False	False	False	False	P35498_1488_E
P35498	SCN1A	1485	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F1486L	False	False	False	False	False	P35498_1485_L
P35498	SCN1A	1481	I	N	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	I1482N	False	False	False	False	False	P35498_1481_N
P35498	SCN1A	1416	N	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N1417H	False	False	False	False	False	P35498_1416_H
P35498	SCN1A	1375	C	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C1376S	False	False	True	True	False	P35498_1375_S
P35498	SCN1A	1338	A	T	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1339T	False	False	False	False	False	P35498_1338_T
P35498	SCN1A	1278	Y	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y1279H	False	False	False	False	False	P35498_1278_H
P35498	SCN1A	986	F	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	F987L	False	False	False	False	False	P35498_986_L
P35498	SCN1A	984	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N985K	False	False	False	False	False	P35498_984_K
P35498	SCN1A	945	R	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R946L	False	False	False	False	False	P35498_945_L
P35498	SCN1A	943	V	M	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	V944M	False	False	False	False	False	P35498_943_M
P35498	SCN1A	858	R	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R859L	False	False	False	False	False	P35498_858_L
P35498	SCN1A	425	Y	H	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	Y426H	False	False	False	False	False	P35498_425_H
P35498	SCN1A	385	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N386K	False	False	False	False	False	P35498_385_K
P35498	SCN1A	383	W	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W384G	False	False	False	False	False	P35498_383_G
P35498	SCN1A	344	C	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	C345S	False	False	True	True	False	P35498_344_S
P35498	SCN1A	159	T	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T160S	False	False	False	False	False	P35498_159_S
P35498	SCN1A	78	D	A	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D79A	False	False	False	False	False	P35498_78_A
P35498	SCN1A	75	P	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P76L	False	False	False	False	False	P35498_75_L
P61764	STXBP1	50	M	V	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	M51V	False	False	False	False	False	P61764_50_V
P61764	STXBP1	84	H	Y	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	H85Y	False	False	False	False	False	P61764_84_Y
P61764	STXBP1	418	T	P	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	T419P	False	False	False	False	False	P61764_418_P
P12883	MYH7	1666	L	P	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1667P	False	False	False	False	False	P12883_1666_P
P12883	MYH7	1037	L	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L1038R	False	False	False	False	False	P12883_1037_R
P12883	MYH7	406	G	R	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	G407R	False	False	False	False	False	P12883_406_R
P12883	MYH7	251	F	Y	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	F252Y	False	False	False	False	False	P12883_251_Y
Q9Y4W6	AFG3L2	467	R	G	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R468G	False	False	False	False	False	Q9Y4W6_467_G
Q14721	KCNB1	742	A	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A743T	False	False	False	False	False	Q14721_742_T
Q14721	KCNB1	736	S	T	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S737T	False	False	False	False	False	Q14721_736_T
Q14721	KCNB1	491	K	R	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K492R	False	False	False	False	False	Q14721_491_R
Q14721	KCNB1	27	A	G	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	A28G	True	False	False	False	True	Q14721_27_G
Q14721	KCNB1	13	S	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	S14N	True	False	False	False	True	Q14721_13_N
O43526	KCNQ2	346	Y	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	Y347C	False	True	False	True	False	O43526_346_C
O43526	KCNQ2	293	A	T	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A294T	False	False	False	False	False	O43526_293_T
O43526	KCNQ2	190	V	A	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	V191A	False	False	False	False	False	O43526_190_A
O43526	KCNQ2	189	N	H	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	N190H	False	False	False	False	False	O43526_189_H
Q5T481	RBM20	1009	P	A	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P1010A	False	False	False	False	False	Q5T481_1009_A
Q9UQD0	SCN8A	400	Y	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	Y401S	False	False	False	False	False	Q9UQD0_400_S
Q9UQD0	SCN8A	1474	G	A	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	G1475A	False	False	False	False	False	Q9UQD0_1474_A
Q9UQD0	SCN8A	1620	L	F	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	L1621F	False	False	False	False	False	Q9UQD0_1620_F
Q9UQD0	SCN8A	1630	I	M	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1631M	False	False	False	False	False	Q9UQD0_1630_M
O14647	CHD2	701	K	R	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	K702R	False	False	False	False	False	O14647_701_R
O14647	CHD2	910	N	D	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	N911D	False	False	False	False	False	O14647_910_D
Q5T481	RBM20	118	V	A	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	V119A	False	False	False	False	False	Q5T481_118_A
P23378	GLDC	959	W	C	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	W960C	False	True	False	True	False	P23378_959_C
Q00577	PURA	304	E	G	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	E305G	False	False	False	False	False	Q00577_304_G
Q00839	HNRNPU	82	D	G	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	D83G	False	False	False	False	False	Q00839_82_G
P26678	PLN	0	M	R	1	ClinVar	criteria provided, single submitter	0.057692307692307696	Phospholamban (PLB)	M1R	True	False	False	True	True	P26678_0_R
Q16363	LAMA4	268	P	Q	0	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	P269Q	False	False	False	False	False	Q16363_268_Q
Q00577	PURA	271	C	S	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	C272S	False	False	True	True	False	Q00577_271_S
P12109	COL6A1	778	P	L	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	P779L	False	False	False	False	False	P12109_778_L
P09471	GNAO1	43	S	P	1	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	S44P	True	False	False	False	True	P09471_43_P
O95363	FARS2	0	M	V	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	M1V	True	False	False	False	True	O95363_0_V
Q8NI60	COQ8A	550	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	E551Q	False	False	False	False	False	Q8NI60_550_Q
P12111	COL6A3	3066	R	G	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	R3067G	False	False	False	False	False	P12111_3066_G
P12109	COL6A1	791	N	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	N792S	False	False	False	False	False	P12109_791_S
P36776	LONP1	788	D	Y	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	D789Y	False	False	False	False	False	P36776_788_Y
P12111	COL6A3	423	Q	E	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	Q424E	False	False	False	False	False	P12111_423_E
Q5T481	RBM20	673	D	A	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	D674A	False	False	False	False	False	Q5T481_673_A
P12109	COL6A1	927	R	C	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R928C	False	True	False	True	False	P12109_927_C
O43526	KCNQ2	229	K	R	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	K230R	False	False	False	False	False	O43526_229_R
Q00839	HNRNPU	113	G	E	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	G114E	False	False	False	False	False	Q00839_113_E
Q00839	HNRNPU	404	V	M	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	V405M	False	False	False	False	False	Q00839_404_M
Q9NP73	ALG13	779	L	V	0	ClinVar	criteria provided, single submitter	0.027264731750219876	UDP-N-acetylglucosamine transferase subunit ALG13 	L780V	False	False	False	False	False	Q9NP73_779_V
P12109	COL6A1	174	A	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	A175V	False	False	False	False	False	P12109_174_V
P12109	COL6A1	748	I	V	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	I749V	False	False	False	False	False	P12109_748_V
Q5T481	RBM20	597	Q	H	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	Q598H	False	False	False	False	False	Q5T481_597_H
Q00577	PURA	44	G	S	0	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	G45S	True	False	False	False	True	Q00577_44_S
P35498	SCN1A	890	G	E	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	G891E	False	False	False	False	False	P35498_890_E
P61764	STXBP1	250	A	P	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	A251P	False	False	False	False	False	P61764_250_P
P35498	SCN1A	27	R	L	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R28L	True	False	False	False	True	P35498_27_L
P20929	NEB	8239	T	P	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T8240P	False	False	False	False	False	P20929_8239_P
Q14721	KCNB1	6	K	N	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	K7N	True	False	False	False	True	Q14721_6_N
P61764	STXBP1	467	I	V	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	I468V	False	False	False	False	False	P61764_467_V
Q96RR1	TWNK	478	E	A	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	E479A	False	False	False	False	False	Q96RR1_478_A
P36776	LONP1	357	R	W	1	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R358W	False	False	False	False	False	P36776_357_W
Q14721	KCNB1	46	R	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R47L	True	False	False	False	True	Q14721_46_L
Q14721	KCNB1	737	P	L	0	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	P738L	False	False	False	False	False	Q14721_737_L
P12109	COL6A1	236	D	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	D237H	False	False	False	False	False	P12109_236_H
P09471	GNAO1	153	K	Q	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	K154Q	False	False	False	False	False	P09471_153_Q
P12111	COL6A3	151	G	E	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G152E	False	False	False	False	False	P12111_151_E
Q96Q11	TRNT1	363	E	D	1	ClinVar	criteria provided, single submitter	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	E364D	False	False	False	False	False	Q96Q11_363_D
P12111	COL6A3	382	A	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A383V	False	False	False	False	False	P12111_382_V
Q5T481	RBM20	494	T	I	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	T495I	False	False	False	False	False	Q5T481_494_I
P12110	COL6A2	59	Q	R	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	Q60R	False	False	False	False	False	P12110_59_R
P12109	COL6A1	78	R	H	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	R79H	False	False	False	False	False	P12109_78_H
P12111	COL6A3	183	A	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	A184V	False	False	False	False	False	P12111_183_V
Q5T481	RBM20	291	V	G	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	V292G	False	False	False	False	False	Q5T481_291_G
P12111	COL6A3	1171	I	V	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	I1172V	False	False	False	False	False	P12111_1171_V
Q6PJG6	BRAT1	137	R	H	0	ClinVar	criteria provided, single submitter	0.03654080389768575	Integrator complex assembly factor BRAT1 (BRCA1-as	R138H	False	False	False	True	False	Q6PJG6_137_H
P35498	SCN1A	861	R	P	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R862P	False	False	False	False	False	P35498_861_P
P35498	SCN1A	145	T	R	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	T146R	False	False	False	False	False	P35498_145_R
Q00839	HNRNPU	73	L	F	0	ClinVar	criteria provided, single submitter	0.01575757575757576	Heterogeneous nuclear ribonucleoprotein U (hnRNP U	L74F	False	False	False	False	False	Q00839_73_F
P20929	NEB	6643	K	T	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	K6644T	False	False	False	False	False	P20929_6643_T
Q5T481	RBM20	156	A	T	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	A157T	False	False	False	False	False	Q5T481_156_T
P12111	COL6A3	558	G	D	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	G559D	False	False	False	False	False	P12111_558_D
P54098	POLG	1180	S	R	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S1181R	False	False	False	False	False	P54098_1180_R
P36776	LONP1	421	R	Q	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R422Q	False	False	False	False	False	P36776_421_Q
P36776	LONP1	873	R	P	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R874P	False	False	False	False	False	P36776_873_P
P12109	COL6A1	945	N	S	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	N946S	False	False	False	False	False	P12109_945_S
P20929	NEB	6858	E	Q	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	E6859Q	False	False	False	False	False	P20929_6858_Q
P12110	COL6A2	1002	D	G	0	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	D1003G	False	False	False	False	False	P12110_1002_G
P20929	NEB	928	D	N	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	D929N	False	False	False	False	False	P20929_928_N
P61764	STXBP1	193	E	D	0	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	E194D	False	False	False	False	False	P61764_193_D
P54098	POLG	311	W	R	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	W312R	False	False	False	False	False	P54098_311_R
P09471	GNAO1	344	A	S	0	ClinVar	criteria provided, single submitter	0.02824858757062147	Guanine nucleotide-binding protein G(o) subunit al	A345S	False	False	False	False	False	P09471_344_S
Q4G0N4	NADK2	15	A	V	0	ClinVar	criteria provided, single submitter	0.02262443438914027	NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitocho	A16V	True	False	False	False	True	Q4G0N4_15_V
P12109	COL6A1	100	Q	R	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	Q101R	False	False	False	False	False	P12109_100_R
P26678	PLN	8	R	L	1	ClinVar	criteria provided, single submitter	0.057692307692307696	Phospholamban (PLB)	R9L	True	False	False	True	True	P26678_8_L
P23378	GLDC	893	T	A	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T894A	False	False	False	False	False	P23378_893_A
P23378	GLDC	646	P	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P647R	False	False	False	False	False	P23378_646_R
P36776	LONP1	40	R	P	0	ClinVar	criteria provided, single submitter	0.009384775808133473	Lon protease homolog, mitochondrial (EC 3.4.21.53)	R41P	True	False	False	False	True	P36776_40_P
Q5T481	RBM20	436	A	P	0	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	A437P	False	False	False	False	False	Q5T481_436_P
P23378	GLDC	697	T	A	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	T698A	False	False	False	False	False	P23378_697_A
P35498	SCN1A	1702	D	Y	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D1703Y	False	False	False	False	False	P35498_1702_Y
P35498	SCN1A	1283	W	S	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	W1284S	False	False	False	False	False	P35498_1283_S
P35498	SCN1A	803	N	K	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	N804K	False	False	False	False	False	P35498_803_K
P28331	NDUFS1	521	Q	K	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	Q522K	False	False	False	False	False	P28331_521_K
P05166	PCCB	441	M	T	1	ClinVar	criteria provided, single submitter	0.02040816326530612	Propionyl-CoA carboxylase beta chain, mitochondria	M442T	False	False	False	False	False	P05166_441_T
P20929	NEB	3704	T	S	0	ClinVar	criteria provided, single submitter	0.00809384164222874	Nebulin	T3705S	False	False	False	False	False	P20929_3704_S
P12109	COL6A1	295	G	R	1	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	G296R	False	False	False	False	False	P12109_295_R
P12109	COL6A1	128	T	A	0	ClinVar	criteria provided, single submitter	0.019455252918287938	Collagen alpha-1(VI) chain	T129A	False	False	False	False	False	P12109_128_A
P12111	COL6A3	189	S	I	0	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	S190I	False	False	False	False	False	P12111_189_I
Q8IWX7	UNC45B	495	D	Y	1	ClinVar	no assertion criteria provided	0.024704618689581095	Protein unc-45 homolog B (Unc-45B) (SMUNC45)	D496Y	False	False	False	False	False	Q8IWX7_495_Y
P10589	NR2F1	140	C	G	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	C141G	False	False	True	True	False	P10589_140_G
O00555	CACNA1A	1269	A	T	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1270T	False	False	False	False	False	O00555_1269_T
P15924	DSP	166	K	N	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K167N	False	False	False	False	False	P15924_166_N
P15924	DSP	2774	T	I	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	T2775I	False	False	False	False	False	P15924_2774_I
Q99715	COL12A1	328	S	G	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S329G	False	False	False	False	False	Q99715_328_G
Q99715	COL12A1	1272	G	R	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G1273R	False	False	False	False	False	Q99715_1272_R
Q13224	GRIN2B	404	H	Y	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	H405Y	False	False	False	False	False	Q13224_404_Y
P17661	DES	0	M	I	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	M1I	True	False	False	False	True	P17661_0_I
O00555	CACNA1A	1348	V	L	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	V1349L	False	False	False	False	False	O00555_1348_L
Q14315	FLNC	2244	A	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A2245S	False	False	False	False	False	Q14315_2244_S
P15924	DSP	2538	V	I	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	V2539I	False	False	False	False	False	P15924_2538_I
O00555	CACNA1A	1135	P	T	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	P1136T	False	False	False	False	False	O00555_1135_T
Q99715	COL12A1	1640	G	E	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	G1641E	False	False	False	False	False	Q99715_1640_E
P15924	DSP	323	K	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	K324R	False	False	False	False	False	P15924_323_R
Q99643	SDHC	49	R	S	1	ClinVar	criteria provided, single submitter	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	R50S	True	False	False	False	True	Q99643_49_S
Q99250	SCN2A	927	F	C	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	F928C	False	True	False	True	False	Q99250_927_C
Q99250	SCN2A	1477	Q	P	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	Q1478P	False	False	False	False	False	Q99250_1477_P
Q14315	FLNC	478	A	V	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	A479V	False	False	False	False	False	Q14315_478_V
O00555	CACNA1A	1974	A	V	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	A1975V	False	False	False	False	False	O00555_1974_V
P15924	DSP	1167	E	G	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	E1168G	False	False	False	False	False	P15924_1167_G
P35609	ACTN2	17	E	D	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	E18D	True	False	False	False	True	P35609_17_D
Q13224	GRIN2B	617	V	I	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	V618I	False	False	False	False	False	Q13224_617_I
Q99715	COL12A1	851	A	V	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	A852V	False	False	False	False	False	Q99715_851_V
Q99715	COL12A1	1219	S	N	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	S1220N	False	False	False	False	False	Q99715_1219_N
P28472	GABRB3	76	E	Q	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	E77Q	False	False	False	False	False	P28472_76_Q
O00555	CACNA1A	613	I	N	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	I614N	False	False	False	False	False	O00555_613_N
O00555	CACNA1A	61	Y	F	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	Y62F	False	False	False	False	False	O00555_61_F
P15924	DSP	953	C	R	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	C954R	False	False	True	True	False	P15924_953_R
Q14315	FLNC	2482	N	S	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	N2483S	False	False	False	False	False	Q14315_2482_S
P15924	DSP	2243	D	E	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	D2244E	False	False	False	False	False	P15924_2243_E
Q14315	FLNC	860	V	A	0	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	V861A	False	False	False	False	False	Q14315_860_A
P15924	DSP	1471	A	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	A1472S	False	False	False	False	False	P15924_1471_S
P15924	DSP	724	Q	K	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	Q725K	False	False	False	False	False	P15924_724_K
O00555	CACNA1A	2177	G	E	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	G2178E	False	False	False	False	False	O00555_2177_E
Q13224	GRIN2B	1077	A	G	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	A1078G	False	False	False	False	False	Q13224_1077_G
P15924	DSP	725	L	P	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	L726P	False	False	False	False	False	P15924_725_P
Q99715	COL12A1	2963	R	Q	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	R2964Q	False	False	False	False	False	Q99715_2963_Q
O00555	CACNA1A	835	N	K	0	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	N836K	False	False	False	False	False	O00555_835_K
O15273	TCAP	0	M	L	1	ClinVar	criteria provided, single submitter	0.029940119760479042	Telethonin (Titin cap protein)	M1L	True	False	False	False	True	O15273_0_L
P45379	TNNT2	103	R	G	1	ClinVar	criteria provided, single submitter	0.0	Troponin T, cardiac muscle (TnTc) (Cardiac muscle 	R104G	False	False	False	False	False	P45379_103_G
Q99250	SCN2A	135	M	K	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M136K	False	False	False	False	False	Q99250_135_K
Q99250	SCN2A	210	G	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G211S	False	False	False	False	False	Q99250_210_S
Q99250	SCN2A	394	R	G	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	R395G	False	False	False	False	False	Q99250_394_G
Q99250	SCN2A	1714	G	S	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	G1715S	False	False	False	False	False	Q99250_1714_S
O76039	CDKL5	181	L	F	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L182F	False	False	False	False	False	O76039_181_F
O76039	CDKL5	696	P	A	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P697A	False	False	False	False	False	O76039_696_A
Q14315	FLNC	2572	I	S	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	I2573S	False	False	False	False	False	Q14315_2572_S
P17661	DES	273	L	H	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	L274H	False	False	False	False	False	P17661_273_H
Q99250	SCN2A	1774	I	M	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	I1775M	False	False	False	False	False	Q99250_1774_M
P15924	DSP	2196	G	D	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	G2197D	False	False	False	False	False	P15924_2196_D
P17661	DES	0	M	R	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	M1R	True	False	False	False	True	P17661_0_R
Q99250	SCN2A	0	M	I	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	M1I	True	False	False	False	True	Q99250_0_I
O76039	CDKL5	739	P	A	0	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	P740A	False	False	False	False	False	O76039_739_A
P15924	DSP	2011	L	F	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	L2012F	False	False	False	False	False	P15924_2011_F
P35609	ACTN2	229	D	G	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	D230G	False	False	False	False	False	P35609_229_G
O95831	AIFM1	104	T	A	0	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	T105A	False	False	False	False	False	O95831_104_A
Q13586	STIM1	108	H	Y	1	ClinVar	criteria provided, single submitter	0.0072992700729927005	Stromal interaction molecule 1	H109Y	False	False	False	False	False	Q13586_108_Y
P35609	ACTN2	859	Q	E	0	ClinVar	criteria provided, single submitter	0.011185682326621925	Alpha-actinin-2 (Alpha-actinin skeletal muscle iso	Q860E	False	False	False	False	False	P35609_859_E
Q99715	COL12A1	1616	T	A	0	ClinVar	criteria provided, single submitter	0.0068560235063663075	Collagen alpha-1(XII) chain	T1617A	False	False	False	False	False	Q99715_1616_A
Q13224	GRIN2B	1452	N	K	0	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	N1453K	False	False	False	False	False	Q13224_1452_K
O76039	CDKL5	176	Y	H	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	Y177H	False	False	False	False	False	O76039_176_H
Q5ST30	VARS2	419	G	R	1	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	G420R	False	False	False	False	False	Q5ST30_419_R
Q9NQL2	RRAGD	76	S	F	1	ClinVar	no assertion criteria provided	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	S77F	False	False	False	False	False	Q9NQL2_76_F
Q9NQL2	RRAGD	90	T	I	1	ClinVar	no assertion criteria provided	0.015	Ras-related GTP-binding protein D (Rag D) (RagD) (	T91I	False	False	False	False	False	Q9NQL2_90_I
P25490	YY1	377	T	S	1	ClinVar	criteria provided, single submitter	0.01932367149758454	Transcriptional repressor protein YY1 (Delta trans	T378S	False	False	False	False	False	P25490_377_S
P12235	SLC25A4	140	L	F	1	ClinVar	criteria provided, single submitter	0.013422818791946308	ADP/ATP translocase 1 (ADP,ATP carrier protein 1) 	L141F	False	False	False	False	False	P12235_140_F
O95299	NDUFA10	296	L	P	1	ClinVar	criteria provided, single submitter	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	L297P	False	False	False	False	False	O95299_296_P
P54098	POLG	946	K	N	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	K947N	False	False	False	False	False	P54098_946_N
Q5T160	RARS2	7	A	G	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	A8G	True	False	False	False	True	Q5T160_7_G
Q7LG56	RRM2B	342	N	D	1	ClinVar	criteria provided, single submitter	0.011396011396011397	Ribonucleoside-diphosphate reductase subunit M2 B 	N343D	False	False	False	False	False	Q7LG56_342_D
O00142	TK2	41	D	N	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	D42N	True	False	False	False	True	O00142_41_N
Q9Y276	BCS1L	61	W	S	1	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	W62S	False	False	False	False	False	Q9Y276_61_S
Q9Y2Z9	COQ6	3	R	W	1	ClinVar	criteria provided, single submitter	0.010683760683760684	Ubiquinone biosynthesis monooxygenase COQ6, mitoch	R4W	True	False	False	False	True	Q9Y2Z9_3_W
Q7KZN9	COX15	69	G	D	1	ClinVar	criteria provided, single submitter	0.014634146341463415	Heme A synthase COX15 (HAS) (EC 1.17.99.9) (Cytoch	G70D	False	False	False	False	False	Q7KZN9_69_D
Q9NR50	EIF2B3	204	Y	C	1	ClinVar	criteria provided, single submitter	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	Y205C	False	True	False	True	False	Q9NR50_204_C
Q9NR50	EIF2B3	311	R	L	1	ClinVar	criteria provided, single submitter	0.028761061946902654	Translation initiation factor eIF2B subunit gamma 	R312L	False	False	False	False	False	Q9NR50_311_L
Q9UKA2	FBXL4	100	G	R	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	G101R	False	False	False	True	False	Q9UKA2_100_R
Q9UI10	EIF2B4	204	P	A	1	ClinVar	criteria provided, single submitter	0.017208413001912046	Translation initiation factor eIF2B subunit delta 	P205A	False	False	False	False	False	Q9UI10_204_A
Q9BQ52	ELAC2	647	A	V	1	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	A648V	False	False	False	False	False	Q9BQ52_647_V
O95363	FARS2	180	D	N	1	ClinVar	criteria provided, single submitter	0.013303769401330377	Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.	D181N	False	False	False	False	False	O95363_180_N
Q9UKA2	FBXL4	201	T	R	1	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	T202R	False	False	False	True	False	Q9UKA2_201_R
P10809	HSPD1	61	V	A	1	ClinVar	criteria provided, single submitter	0.005235602094240838	60 kDa heat shock protein, mitochondrial (EC 5.6.1	V62A	False	False	False	False	False	P10809_61_A
Q330K2	NDUFAF6	178	E	G	1	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	E179G	False	False	False	False	False	Q330K2_178_G
O00217	NDUFS8	101	R	C	1	ClinVar	criteria provided, single submitter	0.04285714285714286	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R102C	False	True	False	True	False	O00217_101_C
P49821	NDUFV1	114	V	E	1	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	V115E	False	False	False	False	False	P49821_114_E
O60313	OPA1	123	D	Y	1	ClinVar	criteria provided, single submitter	0.010416666666666666	Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.	D124Y	False	False	False	False	False	O60313_123_Y
Q7L3T8	PARS2	292	P	A	1	ClinVar	criteria provided, single submitter	0.037894736842105266	Probable proline--tRNA ligase, mitochondrial (EC 6	P293A	False	False	False	True	False	Q7L3T8_292_A
Q5T2R2	PDSS1	222	G	V	1	ClinVar	criteria provided, single submitter	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	G223V	False	False	False	False	False	Q5T2R2_222_V
P54098	POLG	304	S	I	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	S305I	False	False	False	False	False	P54098_304_I
P54098	POLG	1106	D	N	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	D1107N	False	False	False	False	False	P54098_1106_N
Q9HAB8	PPCS	242	A	P	1	ClinVar	criteria provided, single submitter	0.0	Phosphopantothenate--cysteine ligase (EC 6.3.2.51)	A243P	False	False	False	False	False	Q9HAB8_242_P
P35498	SCN1A	1342	A	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	A1343V	False	False	False	False	False	P35498_1342_V
P17661	DES	125	V	L	1	ClinVar	criteria provided, single submitter	0.002127659574468085	Desmin	V126L	False	False	False	False	False	P17661_125_L
P14867	GABRA1	317	A	V	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	A318V	False	False	False	False	False	P14867_317_V
P28472	GABRB3	184	T	A	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	T185A	False	False	False	False	False	P28472_184_A
P35498	SCN1A	345	P	Q	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	P346Q	False	False	False	False	False	P35498_345_Q
Q9UQD0	SCN8A	980	S	T	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	S981T	False	False	False	False	False	Q9UQD0_980_T
O00429	DNM1L	74	K	E	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	K75E	False	False	False	False	False	O00429_74_E
Q9UM47	NOTCH3	200	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C201R	False	False	True	True	False	Q9UM47_200_R
Q05193	DNM1	525	L	P	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	L526P	False	False	False	False	False	Q05193_525_P
Q15784	NEUROD2	132	R	L	1	ClinVar	criteria provided, single submitter	0.01832460732984293	Neurogenic differentiation factor 2 (NeuroD2) (Cla	R133L	False	False	False	False	False	Q15784_132_L
P16389	KCNA2	304	F	S	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	F305S	False	False	False	False	False	P16389_304_S
P12883	MYH7	1597	Q	L	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	Q1598L	False	False	False	False	False	P12883_1597_L
Q96PR1	KCNC2	393	L	S	1	ClinVar	criteria provided, single submitter	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	L394S	False	False	False	False	False	Q96PR1_393_S
P35498	SCN1A	985	L	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	L986V	False	False	False	False	False	P35498_985_V
P02545	LMNA	377	K	Q	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	K378Q	False	False	False	False	False	P02545_377_Q
O43526	KCNQ2	129	E	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	E130G	False	False	False	False	False	O43526_129_G
P09493	TPM1	263	K	R	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	K264R	False	False	False	False	False	P09493_263_R
Q96PR1	KCNC2	468	V	L	1	ClinVar	criteria provided, single submitter	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	V469L	False	False	False	False	False	Q96PR1_468_L
O43526	KCNQ2	256	E	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	E257G	False	False	False	False	False	O43526_256_G
Q9UQD0	SCN8A	1489	N	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	N1490S	False	False	False	False	False	Q9UQD0_1489_S
P12883	MYH7	924	R	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R925S	False	False	False	False	False	P12883_924_S
P12883	MYH7	610	K	N	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	K611N	False	False	False	False	False	P12883_610_N
P12883	MYH7	320	A	S	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A321S	False	False	False	False	False	P12883_320_S
Q05193	DNM1	138	G	V	1	ClinVar	criteria provided, single submitter	0.008101851851851851	Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)	G139V	False	False	False	False	False	Q05193_138_V
Q9Y4W6	AFG3L2	701	R	L	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	R702L	False	False	False	False	False	Q9Y4W6_701_L
O43526	KCNQ2	210	M	T	1	ClinVar	criteria provided, multiple submitters, no conflicts	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	M211T	False	False	False	False	False	O43526_210_T
Q8NI60	COQ8A	339	S	C	1	ClinVar	criteria provided, single submitter	0.013910355486862442	Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) 	S340C	False	True	False	True	False	Q8NI60_339_C
Q9Y2Z2	MTO1	67	R	P	1	ClinVar	criteria provided, single submitter	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	R68P	False	False	False	False	False	Q9Y2Z2_67_P
Q9Y2Z2	MTO1	357	Q	R	1	ClinVar	criteria provided, single submitter	0.019525801952580194	5-taurinomethyluridine-[tRNA] synthase subunit MTO	Q358R	False	False	False	False	False	Q9Y2Z2_357_R
Q9P032	NDUFAF4	6	R	S	1	ClinVar	criteria provided, single submitter	0.005714285714285714	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R7S	True	False	False	False	True	Q9P032_6_S
O75489	NDUFS3	139	R	G	1	ClinVar	criteria provided, single submitter	0.007575757575757576	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R140G	False	False	False	False	False	O75489_139_G
P08559	PDHA1	163	N	D	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	N164D	False	False	False	True	False	P08559_163_D
Q9H845	ACAD9	283	N	D	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	N284D	False	False	False	False	False	Q9H845_283_D
P11177	PDHB	191	R	Q	1	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	R192Q	False	False	False	False	False	P11177_191_Q
P43897	TSFM	285	Q	R	1	ClinVar	criteria provided, single submitter	0.018461538461538463	Elongation factor Ts, mitochondrial (EF-Ts) (EF-Ts	Q286R	False	False	False	False	False	P43897_285_R
P30084	ECHS1	24	R	C	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	R25C	True	True	False	True	True	P30084_24_C
Q6PI48	DARS2	0	M	L	1	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	M1L	True	False	False	False	True	Q6PI48_0_L
Q6PI48	DARS2	183	Q	K	1	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	Q184K	False	False	False	False	False	Q6PI48_183_K
P08559	PDHA1	315	P	L	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P316L	False	False	False	True	False	P08559_315_L
Q9NP80	PNPLA8	519	V	D	1	ClinVar	no assertion criteria provided	0.017902813299232736	Calcium-independent phospholipase A2-gamma (EC 3.1	V520D	False	False	False	False	False	Q9NP80_519_D
P38646	HSPA9	20	P	S	0	ClinVar	criteria provided, single submitter	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	P21S	True	False	False	False	True	P38646_20_S
P31040	SDHA	82	A	V	1	ClinVar	criteria provided, single submitter	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	A83V	False	False	False	False	False	P31040_82_V
Q96PR1	KCNC2	292	F	L	1	ClinVar	no assertion criteria provided	0.025078369905956112	Voltage-gated potassium channel KCNC2 (Potassium v	F293L	False	False	False	False	False	Q96PR1_292_L
O00142	TK2	138	A	E	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	A139E	False	False	False	False	False	O00142_138_E
O00142	TK2	132	E	A	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	E133A	False	False	False	False	False	O00142_132_A
O00142	TK2	132	E	D	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	E133D	False	False	False	False	False	O00142_132_D
O00142	TK2	132	E	Q	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	E133Q	False	False	False	False	False	O00142_132_Q
O00142	TK2	120	H	D	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	H121D	False	False	False	False	False	O00142_120_D
O00142	TK2	211	I	V	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	I212V	False	False	False	False	False	O00142_211_V
O00142	TK2	193	K	N	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	K194N	False	False	False	False	False	O00142_193_N
O00142	TK2	131	M	T	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	M132T	False	False	False	False	False	O00142_131_T
O00142	TK2	0	M	V	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	M1V	True	False	False	False	True	O00142_0_V
O00142	TK2	133	R	K	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R134K	False	False	False	False	False	O00142_133_K
O00142	TK2	191	R	G	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	R192G	False	False	False	False	False	O00142_191_G
O00142	TK2	137	S	G	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	S138G	False	False	False	False	False	O00142_137_G
P53597	SUCLG1	262	E	K	1	ClinVar	criteria provided, single submitter	0.02023121387283237	Succinate--CoA ligase [ADP/GDP-forming] subunit al	E263K	False	False	False	False	False	P53597_262_K
P09493	TPM1	13	D	E	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D14E	True	False	False	False	True	P09493_13_E
Q99714	HSD17B10	183	R	Q	1	ClinVar	criteria provided, single submitter	0.01532567049808429	3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.3	R184Q	False	False	False	False	False	Q99714_183_Q
P07333	CSF1R	663	E	V	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	E664V	False	False	False	False	False	P07333_663_V
P31040	SDHA	27	T	R	0	ClinVar	criteria provided, single submitter	0.02710843373493976	Succinate dehydrogenase [ubiquinone] flavoprotein 	T28R	True	False	False	False	True	P31040_27_R
P21912	SDHB	233	L	P	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	L234P	False	False	False	True	False	P21912_233_P
P54098	POLG	778	L	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L779P	False	False	False	False	False	P54098_778_P
P54098	POLG	543	M	T	0	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	M544T	False	False	False	False	False	P54098_543_T
Q5ST30	VARS2	495	E	D	0	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	E496D	False	False	False	False	False	Q5ST30_495_D
Q96Q11	TRNT1	15	R	S	0	ClinVar	criteria provided, single submitter	0.009216589861751152	CCA tRNA nucleotidyltransferase 1, mitochondrial (	R16S	True	False	False	False	True	Q96Q11_15_S
Q9Y276	BCS1L	6	I	V	0	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	I7V	True	False	False	False	True	Q9Y276_6_V
Q5JTZ9	AARS2	430	M	V	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	M431V	False	False	False	False	False	Q5JTZ9_430_V
Q5RI15	COX20	96	K	N	0	ClinVar	criteria provided, single submitter	0.03389830508474576	Cytochrome c oxidase assembly protein COX20, mitoc	K97N	False	False	False	True	False	Q5RI15_96_N
Q9BQ52	ELAC2	261	M	L	0	ClinVar	criteria provided, single submitter	0.026634382566585957	Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.1	M262L	False	False	False	False	False	Q9BQ52_261_L
Q96GW9	MARS2	228	N	D	0	ClinVar	criteria provided, single submitter	0.026981450252951095	Methionine--tRNA ligase, mitochondrial (EC 6.1.1.1	N229D	False	False	False	False	False	Q96GW9_228_D
P42704	LRPPRC	16	A	T	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	A17T	True	False	False	False	True	P42704_16_T
P42704	LRPPRC	364	K	R	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	K365R	False	False	False	False	False	P42704_364_R
O43181	NDUFS4	8	V	A	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] iron-sulfur protei	V9A	True	False	False	False	True	O43181_8_A
Q8TB37	NUBPL	100	I	V	0	ClinVar	criteria provided, single submitter	0.012539184952978056	Iron-sulfur cluster transfer protein NUBPL (IND1 h	I101V	False	False	False	False	False	Q8TB37_100_V
P11177	PDHB	138	P	S	0	ClinVar	criteria provided, single submitter	0.016713091922005572	Pyruvate dehydrogenase E1 component subunit beta, 	P139S	False	False	False	False	False	P11177_138_S
Q13496	MTM1	379	D	H	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	D380H	False	False	False	False	False	Q13496_379_H
P47870	GABRB2	180	Y	F	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	Y181F	False	False	False	False	False	P47870_180_F
P12883	MYH7	1571	I	M	0	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	I1572M	False	False	False	False	False	P12883_1571_M
Q14896	MYBPC3	113	T	S	0	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	T114S	False	False	False	False	False	Q14896_113_S
Q14896	MYBPC3	151	D	N	0	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	D152N	False	False	False	False	False	Q14896_151_N
Q92736	RYR2	4580	V	I	0	ClinVar	criteria provided, single submitter	0.018119589289309443	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Card	V4581I	False	False	False	False	False	Q92736_4580_I
Q99959	PKP2	451	L	V	0	ClinVar	criteria provided, single submitter	0.01021566401816118	Plakophilin-2	L452V	False	False	False	False	False	Q99959_451_V
Q14896	MYBPC3	413	S	T	0	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	S414T	False	False	False	False	False	Q14896_413_T
Q14126	DSG2	502	V	A	0	ClinVar	criteria provided, single submitter	0.012522361359570662	Desmoglein-2 (Cadherin family member 5) (HDGC)	V503A	False	False	False	False	False	Q14126_502_A
P15924	DSP	218	N	S	0	ClinVar	criteria provided, single submitter	0.014977359804946012	Desmoplakin (DP) (250/210 kDa paraneoplastic pemph	N219S	False	False	False	False	False	P15924_218_S
P28472	GABRB3	119	D	E	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	D120E	False	False	False	False	False	P28472_119_E
P63267	ACTG2	69	Y	C	1	ClinVar	no assertion criteria provided	0.018617021276595744	Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (A	Y70C	False	True	False	True	False	P63267_69_C
O76039	CDKL5	39	A	E	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	A40E	True	False	False	False	True	O76039_39_E
Q16854	DGUOK	164	E	K	1	ClinVar	criteria provided, single submitter	0.007220216606498195	Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113	E165K	False	False	False	False	False	Q16854_164_K
P54098	POLG	243	L	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L244P	False	False	False	False	False	P54098_243_P
Q9Y223	GNE	580	C	G	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	C581G	False	False	True	True	False	Q9Y223_580_G
O95140	MFN2	261	A	V	1	ClinVar	criteria provided, single submitter	0.017173051519154558	Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN	A262V	False	False	False	False	False	O95140_261_V
Q9Y223	GNE	527	F	L	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	F528L	False	False	False	False	False	Q9Y223_527_L
O00142	TK2	214	L	I	1	ClinVar	criteria provided, single submitter	0.022641509433962263	Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2	L215I	False	False	False	False	False	O00142_214_I
P09493	TPM1	158	D	A	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	D159A	False	False	False	False	False	P09493_158_A
P19971	TYMP	113	D	E	1	ClinVar	criteria provided, single submitter	0.014522821576763486	Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliosta	D114E	False	False	False	False	False	P19971_113_E
P61764	STXBP1	235	G	V	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G236V	False	False	False	False	False	P61764_235_V
P61764	STXBP1	86	L	H	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	L87H	False	False	False	False	False	P61764_86_H
O14647	CHD2	941	R	L	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R942L	False	False	False	False	False	O14647_941_L
Q86YT5	SLC13A5	498	S	F	1	ClinVar	criteria provided, single submitter	0.01936619718309859	Na(+)/citrate cotransporter (NaCT) (Sodium-coupled	S499F	False	False	False	False	False	Q86YT5_498_F
P10589	NR2F1	134	R	P	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	R135P	False	False	False	True	False	P10589_134_P
Q99250	SCN2A	1379	V	F	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1380F	False	False	False	False	False	Q99250_1379_F
Q99798	ACO2	221	W	R	1	ClinVar	criteria provided, single submitter	0.016666666666666666	Aconitate hydratase, mitochondrial (Aconitase) (EC	W222R	False	False	False	False	False	Q99798_221_R
Q96RR1	TWNK	314	W	C	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	W315C	False	True	False	True	False	Q96RR1_314_C
Q5ST30	VARS2	609	Y	C	1	ClinVar	criteria provided, single submitter	0.01881467544684854	Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (V	Y610C	False	True	False	True	False	Q5ST30_609_C
Q96RR1	TWNK	332	V	M	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	V333M	False	False	False	False	False	Q96RR1_332_M
Q96RR1	TWNK	454	M	V	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	M455V	False	False	False	False	False	Q96RR1_454_V
P30084	ECHS1	59	A	G	1	ClinVar	criteria provided, single submitter	0.027586206896551724	Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) 	A60G	False	False	False	False	False	P30084_59_G
P38646	HSPA9	115	T	I	0	ClinVar	criteria provided, single submitter	0.007363770250368188	Stress-70 protein, mitochondrial (EC 3.6.4.10) (75	T116I	False	False	False	False	False	P38646_115_I
Q96H96	COQ2	122	R	C	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	R123C	False	True	False	True	False	Q96H96_122_C
P06753	TPM3	150	E	G	1	ClinVar	criteria provided, single submitter	0.0035087719298245615	Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tro	E151G	False	False	False	False	False	P06753_150_G
P12110	COL6A2	634	K	N	1	ClinVar	criteria provided, single submitter	0.020608439646712464	Collagen alpha-2(VI) chain	K635N	False	False	False	False	False	P12110_634_N
Q9UM47	NOTCH3	127	C	G	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C128G	False	False	True	True	False	Q9UM47_127_G
Q9UM47	NOTCH3	317	C	F	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C318F	False	False	True	True	False	Q9UM47_317_F
Q7L8L6	FASTKD5	633	L	P	1	ClinVar	no assertion criteria provided	0.02225130890052356	FAST kinase domain-containing protein 5, mitochond	L634P	False	False	False	False	False	Q7L8L6_633_P
Q7L8L6	FASTKD5	403	R	C	1	ClinVar	no assertion criteria provided	0.02225130890052356	FAST kinase domain-containing protein 5, mitochond	R404C	False	True	False	True	False	Q7L8L6_403_C
Q7L8L6	FASTKD5	124	Y	C	1	ClinVar	no assertion criteria provided	0.02225130890052356	FAST kinase domain-containing protein 5, mitochond	Y125C	False	True	False	True	False	Q7L8L6_124_C
P15104	GLUL	201	W	R	1	ClinVar	criteria provided, single submitter	0.029490616621983913	Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate-	W202R	False	False	False	False	False	P15104_201_R
O14647	CHD2	838	G	A	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	G839A	False	False	False	False	False	O14647_838_A
Q6PI48	DARS2	173	R	H	1	ClinVar	criteria provided, single submitter	0.015503875968992248	Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12	R174H	False	False	False	False	False	Q6PI48_173_H
Q5T481	RBM20	637	P	S	1	ClinVar	criteria provided, single submitter	0.016299918500407497	RNA-binding protein 20 (RNA-binding motif protein 	P638S	False	False	False	False	False	Q5T481_637_S
P12883	MYH7	728	A	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A729P	False	False	False	False	False	P12883_728_P
P61764	STXBP1	353	C	F	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	C354F	False	False	True	True	False	P61764_353_F
P12883	MYH7	927	D	H	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	D928H	False	False	False	False	False	P12883_927_H
P28472	GABRB3	274	R	T	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	R275T	False	False	False	False	False	P28472_274_T
Q13224	GRIN2B	690	T	I	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	T691I	False	False	False	False	False	Q13224_690_I
Q13224	GRIN2B	796	L	F	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	L797F	False	False	False	False	False	Q13224_796_F
Q13224	GRIN2B	762	G	S	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	G763S	False	False	False	False	False	Q13224_762_S
O15399	GRIN2D	843	N	H	1	ClinVar	criteria provided, single submitter	0.0187125748502994	Glutamate receptor ionotropic, NMDA 2D (GluN2D) (E	N844H	False	False	False	False	False	O15399_843_H
Q13224	GRIN2B	627	S	Y	1	ClinVar	criteria provided, single submitter	0.02021563342318059	Glutamate receptor ionotropic, NMDA 2B (GluN2B) (G	S628Y	False	False	False	False	False	Q13224_627_Y
Q96H96	COQ2	66	A	P	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	A67P	False	False	False	False	False	Q96H96_66_P
Q9Y3A0	COQ4	143	T	N	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	T144N	False	False	False	False	False	Q9Y3A0_143_N
Q9Y3A0	COQ4	159	R	Q	1	ClinVar	criteria provided, single submitter	0.011320754716981131	Ubiquinone biosynthesis protein COQ4 homolog, mito	R160Q	False	False	False	False	False	Q9Y3A0_159_Q
Q9UM47	NOTCH3	81	C	Y	1	ClinVar	no assertion criteria provided	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C82Y	False	False	True	True	False	Q9UM47_81_Y
O95831	AIFM1	56	S	P	1	ClinVar	criteria provided, single submitter	0.008156606851549755	Apoptosis-inducing factor 1, mitochondrial (EC 1.6	S57P	False	False	False	False	False	O95831_56_P
P02545	LMNA	61	R	S	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	R62S	False	False	False	False	False	P02545_61_S
P08559	PDHA1	173	G	R	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G174R	False	False	False	True	False	P08559_173_R
P14927	UQCRB	0	M	V	1	ClinVar	criteria provided, single submitter	0.0	Cytochrome b-c1 complex subunit 7 (Complex III sub	M1V	True	False	False	False	True	P14927_0_V
P82909	KGD4	98	R	P	1	ClinVar	no assertion criteria provided	0.0	Alpha-ketoglutarate dehydrogenase component 4 (Alp	R99P	False	False	False	False	False	P82909_98_P
Q5T3F8	TMEM63B	480	T	N	1	ClinVar	no assertion criteria provided	0.03365384615384615	Mechanosensitive cation channel TMEM63B (Transmemb	T481N	False	False	False	True	False	Q5T3F8_480_N
O95299	NDUFA10	216	R	W	0	ClinVar	criteria provided, single submitter	0.016901408450704224	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R217W	False	False	False	False	False	O95299_216_W
Q9UI09	NDUFA12	13	I	V	0	ClinVar	criteria provided, single submitter	0.0	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	I14V	True	False	False	False	True	Q9UI09_13_V
Q16795	NDUFA9	221	R	W	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	R222W	False	False	False	False	False	Q16795_221_W
Q330K2	NDUFAF6	16	I	V	0	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	I17V	True	False	False	False	True	Q330K2_16_V
Q330K2	NDUFAF6	121	E	D	0	ClinVar	criteria provided, single submitter	0.021021021021021023	NADH dehydrogenase (ubiquinone) complex I, assembl	E122D	False	False	False	False	False	Q330K2_121_D
Q5JTZ9	AARS2	516	N	S	0	ClinVar	criteria provided, single submitter	0.018274111675126905	Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (	N517S	False	False	False	False	False	Q5JTZ9_516_S
Q5T2R2	PDSS1	54	I	M	0	ClinVar	criteria provided, single submitter	0.021686746987951807	All trans-polyprenyl-diphosphate synthase PDSS1 (A	I55M	False	False	False	False	False	Q5T2R2_54_M
Q5T160	RARS2	533	V	M	0	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	V534M	False	False	False	False	False	Q5T160_533_M
A6NFY7	SDHAF1	40	G	C	0	ClinVar	criteria provided, single submitter	0.008695652173913044	Succinate dehydrogenase assembly factor 1, mitocho	G41C	True	True	False	True	True	A6NFY7_40_C
P21912	SDHB	175	E	D	0	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	E176D	False	False	False	True	False	P21912_175_D
Q6DKK2	TTC19	282	S	N	0	ClinVar	criteria provided, single submitter	0.013157894736842105	Tetratricopeptide repeat protein 19, mitochondrial	S283N	False	False	False	False	False	Q6DKK2_282_N
Q9Y276	BCS1L	361	T	S	0	ClinVar	criteria provided, single submitter	0.007159904534606206	Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-)	T362S	False	False	False	False	False	Q9Y276_361_S
Q96H96	COQ2	368	I	T	0	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	I369T	False	False	False	False	False	Q96H96_368_T
Q99807	COQ7	21	S	P	0	ClinVar	criteria provided, single submitter	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	S22P	True	False	False	False	True	Q99807_21_P
P13073	COX4I1	116	V	I	0	ClinVar	criteria provided, single submitter	0.005917159763313609	Cytochrome c oxidase subunit 4 isoform 1, mitochon	V117I	False	False	False	False	False	P13073_116_I
P12074	COX6A1	80	T	S	0	ClinVar	criteria provided, single submitter	0.0	Cytochrome c oxidase subunit 6A1, mitochondrial (C	T81S	False	False	False	False	False	P12074_80_S
Q9H845	ACAD9	28	L	P	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	L29P	True	False	False	False	True	Q9H845_28_P
Q9UKA2	FBXL4	57	V	I	0	ClinVar	criteria provided, single submitter	0.04508856682769726	F-box/LRR-repeat protein 4 (F-box and leucine-rich	V58I	False	False	False	True	False	Q9UKA2_57_I
Q53H12	AGK	231	I	T	0	ClinVar	criteria provided, single submitter	0.018957345971563982	Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.	I232T	False	False	False	False	False	Q53H12_231_T
Q9NSE4	IARS2	608	Y	C	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	Y609C	False	True	False	True	False	Q9NSE4_608_C
P42704	LRPPRC	989	E	K	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	E990K	False	False	False	False	False	P42704_989_K
P21912	SDHB	39	K	E	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	K40E	True	False	False	True	True	P21912_39_E
Q99250	SCN2A	1927	V	I	0	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	V1928I	False	False	False	False	False	Q99250_1927_I
Q9UQD0	SCN8A	952	C	Y	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	C953Y	False	False	True	True	False	Q9UQD0_952_Y
Q5TEU4	NDUFAF5	54	Q	K	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	Q55K	False	False	False	False	False	Q5TEU4_54_K
Q5TEU4	NDUFAF5	262	E	K	1	ClinVar	criteria provided, single submitter	0.011594202898550725	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.	E263K	False	False	False	False	False	Q5TEU4_262_K
Q86SX6	GLRX5	122	D	H	1	ClinVar	criteria provided, single submitter	0.012738853503184714	Glutaredoxin-related protein 5, mitochondrial (Mon	D123H	False	False	False	False	False	Q86SX6_122_H
P68133	ACTA1	180	D	Y	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	D181Y	False	False	False	False	False	P68133_180_Y
Q9UM47	NOTCH3	1104	G	C	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	G1105C	False	True	False	True	False	Q9UM47_1104_C
Q96I59	NARS2	108	E	Q	1	ClinVar	criteria provided, single submitter	0.018867924528301886	Asparaginyl-tRNA synthetase (AsnRS) (NARS2) (EC 6.	E109Q	False	False	False	False	False	Q96I59_108_Q
Q969Q1	TRIM63	318	L	P	1	ClinVar	no assertion criteria provided	0.0453257790368272	E3 ubiquitin-protein ligase TRIM63 (EC 2.3.2.27) (	L319P	False	False	False	True	False	Q969Q1_318_P
P11166	SLC2A1	145	E	D	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	E146D	False	False	False	False	False	P11166_145_D
P11166	SLC2A1	174	G	C	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	G175C	False	True	False	True	False	P11166_174_C
P11166	SLC2A1	141	M	K	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	M142K	False	False	False	False	False	P11166_141_K
P11166	SLC2A1	335	L	R	1	ClinVar	criteria provided, single submitter	0.012195121951219513	Solute carrier family 2, facilitated glucose trans	L336R	False	False	False	False	False	P11166_335_R
Q9BYZ6	RHOBTB2	218	S	F	1	ClinVar	criteria provided, single submitter	0.024759284731774415	Rho-related BTB domain-containing protein 2 (Delet	S219F	False	False	False	False	False	Q9BYZ6_218_F
P23378	GLDC	896	W	C	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	W897C	False	True	False	True	False	P23378_896_C
P23378	GLDC	774	H	P	1	ClinVar	no assertion criteria provided	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	H775P	False	False	False	False	False	P23378_774_P
Q9Y223	GNE	703	P	R	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	P704R	False	False	False	False	False	Q9Y223_703_R
Q9Y223	GNE	363	G	R	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	G364R	False	False	False	False	False	Q9Y223_363_R
Q9Y223	GNE	562	C	Y	1	ClinVar	no assertion criteria provided	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	C563Y	False	False	True	True	False	Q9Y223_562_Y
P08559	PDHA1	328	L	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L329R	False	False	False	True	False	P08559_328_R
P08559	PDHA1	49	P	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P50R	True	False	False	True	True	P08559_49_R
P08559	PDHA1	64	Y	Q	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y65Q	False	False	False	True	False	P08559_64_Q
P08559	PDHA1	70	V	A	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V71A	False	False	False	True	False	P08559_70_A
P08559	PDHA1	74	E	A	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E75A	False	False	False	True	False	P08559_74_A
P08559	PDHA1	74	E	V	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E75V	False	False	False	True	False	P08559_74_V
P08559	PDHA1	74	E	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E75G	False	False	False	True	False	P08559_74_G
P08559	PDHA1	89	F	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	F90S	False	False	False	True	False	P08559_89_S
P08559	PDHA1	90	C	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	C91S	False	False	True	True	False	P08559_90_S
P08559	PDHA1	100	C	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	C101R	False	False	True	True	False	P08559_100_R
P08559	PDHA1	109	P	H	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P110H	False	False	False	True	False	P08559_109_H
P08559	PDHA1	110	T	I	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T111I	False	False	False	True	False	P08559_110_I
P08559	PDHA1	111	D	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D112G	False	False	False	True	False	P08559_111_G
P08559	PDHA1	120	H	Q	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H121Q	False	False	False	True	False	P08559_120_Q
P08559	PDHA1	121	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G122R	False	False	False	True	False	P08559_121_R
P08559	PDHA1	136	E	Q	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E137Q	False	False	False	True	False	P08559_136_Q
P08559	PDHA1	137	L	F	1	ClinVar	criteria provided, single submitter	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L138F	False	False	False	True	False	P08559_137_F
P08559	PDHA1	138	T	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T139R	False	False	False	True	False	P08559_138_R
P08559	PDHA1	143	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G144R	False	False	False	True	False	P08559_143_R
P08559	PDHA1	143	G	D	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G144D	False	False	False	True	False	P08559_143_D
P08559	PDHA1	149	G	E	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G150E	False	False	False	True	False	P08559_149_E
P08559	PDHA1	151	S	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	S152P	False	False	False	True	False	P08559_151_P
P08559	PDHA1	151	S	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	S152T	False	False	False	True	False	P08559_151_T
P08559	PDHA1	152	M	V	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M153V	False	False	False	True	False	P08559_152_V
P08559	PDHA1	159	F	N	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	F160N	False	False	False	True	False	P08559_159_N
P08559	PDHA1	166	V	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V167L	False	False	False	True	False	P08559_166_L
P08559	PDHA1	170	V	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V171L	False	False	False	True	False	P08559_170_L
P08559	PDHA1	174	A	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A175P	False	False	False	True	False	P08559_174_P
P08559	PDHA1	176	I	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	I177T	False	False	False	True	False	P08559_176_T
P08559	PDHA1	187	E	K	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E188K	False	False	False	True	False	P08559_187_K
P08559	PDHA1	195	D	N	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D196N	False	False	False	True	False	P08559_195_N
P08559	PDHA1	197	A	V	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A198V	False	False	False	True	False	P08559_197_V
P08559	PDHA1	198	A	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A199T	False	False	False	True	False	P08559_198_T
P08559	PDHA1	199	N	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	N200T	False	False	False	True	False	P08559_199_T
P08559	PDHA1	206	A	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A207P	False	False	False	True	False	P08559_206_P
P08559	PDHA1	208	N	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	N209S	False	False	False	True	False	P08559_208_S
P08559	PDHA1	209	M	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M210T	False	False	False	True	False	P08559_209_T
P08559	PDHA1	214	K	Q	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	K215Q	False	False	False	True	False	P08559_214_Q
P08559	PDHA1	216	P	A	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P217A	False	False	False	True	False	P08559_216_A
P08559	PDHA1	216	P	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P217T	False	False	False	True	False	P08559_216_T
P08559	PDHA1	216	P	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P217R	False	False	False	True	False	P08559_216_R
P08559	PDHA1	226	Y	C	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y227C	False	True	False	True	False	P08559_226_C
P08559	PDHA1	229	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G230R	False	False	False	True	False	P08559_229_R
P08559	PDHA1	230	T	A	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T231A	False	False	False	True	False	P08559_230_A
P08559	PDHA1	230	T	K	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	T231K	False	False	False	True	False	P08559_230_K
P08559	PDHA1	234	R	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R235G	False	False	False	True	False	P08559_234_G
P08559	PDHA1	242	Y	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y243S	False	False	False	True	False	P08559_242_S
P08559	PDHA1	252	R	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R253G	False	False	False	True	False	P08559_252_G
P08559	PDHA1	259	L	V	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L260V	False	False	False	True	False	P08559_259_V
P08559	PDHA1	261	V	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	V262L	False	False	False	True	False	P08559_261_L
P08559	PDHA1	277	G	E	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G278E	False	False	False	True	False	P08559_277_E
P08559	PDHA1	281	M	V	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M282V	False	False	False	True	False	P08559_281_V
P08559	PDHA1	281	M	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M282R	False	False	False	True	False	P08559_281_R
P08559	PDHA1	287	R	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R288S	False	False	False	True	False	P08559_287_S
P08559	PDHA1	287	R	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R288L	False	False	False	True	False	P08559_287_L
P08559	PDHA1	289	H	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H290P	False	False	False	True	False	P08559_289_P
P08559	PDHA1	291	H	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H292L	False	False	False	True	False	P08559_291_L
P08559	PDHA1	295	D	E	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D296E	False	False	False	True	False	P08559_295_E
P08559	PDHA1	295	D	N	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	D296N	False	False	False	True	False	P08559_295_N
P08559	PDHA1	297	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G298R	False	False	False	True	False	P08559_297_R
P08559	PDHA1	297	G	E	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G298E	False	False	False	True	False	P08559_297_E
P08559	PDHA1	301	R	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R302L	False	False	False	True	False	P08559_301_L
P08559	PDHA1	313	S	C	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	S314C	False	True	False	True	False	P08559_313_C
P08559	PDHA1	197	A	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A198T	False	False	False	True	False	P08559_197_T
P08559	PDHA1	350	Q	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Q351P	False	False	False	True	False	P08559_350_P
P08559	PDHA1	352	A	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A353T	False	False	False	True	False	P08559_352_T
P08559	PDHA1	352	A	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A353P	False	False	False	True	False	P08559_352_P
P08559	PDHA1	87	R	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R88S	False	False	False	True	False	P08559_87_S
P08559	PDHA1	100	C	F	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	C101F	False	False	True	True	False	P08559_100_F
P08559	PDHA1	366	H	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H367R	False	False	False	True	False	P08559_366_R
P08559	PDHA1	368	Y	H	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Y369H	False	False	False	True	False	P08559_368_H
P08559	PDHA1	136	E	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E137G	False	False	False	True	False	P08559_136_G
P08559	PDHA1	382	W	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	W383R	False	False	False	True	False	P08559_382_R
P08559	PDHA1	387	S	P	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	S388P	False	False	False	True	False	P08559_387_P
P08559	PDHA1	294	S	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	S295G	False	False	False	True	False	P08559_294_G
P08559	PDHA1	43	H	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H44R	True	False	False	True	True	P08559_43_R
P08559	PDHA1	49	P	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	P50S	True	False	False	True	True	P08559_49_S
P08559	PDHA1	135	A	V	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	A136V	False	False	False	True	False	P08559_135_V
P08559	PDHA1	154	M	T	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	M155T	False	False	False	True	False	P08559_154_T
P08559	PDHA1	161	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G162R	False	False	False	True	False	P08559_161_R
P08559	PDHA1	86	I	M	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	I87M	False	False	False	True	False	P08559_86_M
P08559	PDHA1	112	H	D	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	H113D	False	False	False	True	False	P08559_112_D
P08559	PDHA1	140	R	G	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R141G	False	False	False	True	False	P08559_140_G
P08559	PDHA1	140	R	L	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	R141L	False	False	False	True	False	P08559_140_L
P08559	PDHA1	143	G	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G144S	False	False	False	True	False	P08559_143_S
P08559	PDHA1	147	G	R	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G148R	False	False	False	True	False	P08559_147_R
P08559	PDHA1	180	C	Y	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	C181Y	False	False	True	True	False	P08559_180_Y
P08559	PDHA1	194	G	A	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	G195A	False	False	False	True	False	P08559_194_A
P08559	PDHA1	215	L	S	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	L216S	False	False	False	True	False	P08559_215_S
P08559	PDHA1	282	E	K	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	E283K	False	False	False	True	False	P08559_282_K
P08559	PDHA1	307	Q	H	1	ClinVar	no assertion criteria provided	0.03076923076923077	Pyruvate dehydrogenase E1 component subunit alpha,	Q308H	False	False	False	True	False	P08559_307_H
P14867	GABRA1	305	K	N	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	K306N	False	False	False	False	False	P14867_305_N
P12883	MYH7	886	L	P	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	L887P	False	False	False	False	False	P12883_886_P
Q53S33	BOLA3	83	V	A	1	ClinVar	criteria provided, single submitter	0.009345794392523364	BolA-like protein 3	V84A	False	False	False	False	False	Q53S33_83_A
Q9BW92	TARS2	366	H	Y	1	ClinVar	criteria provided, single submitter	0.020891364902506964	Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3)	H367Y	False	False	False	False	False	Q9BW92_366_Y
P19429	TNNI3	156	A	E	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	A157E	False	False	False	False	False	P19429_156_E
O60701	UGDH	361	A	T	1	ClinVar	criteria provided, single submitter	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	A362T	False	False	False	False	False	O60701_361_T
O60701	UGDH	247	V	L	1	ClinVar	criteria provided, single submitter	0.024291497975708502	UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase	V248L	False	False	False	False	False	O60701_247_L
P55072	VCP	187	P	H	1	ClinVar	criteria provided, single submitter	0.01488833746898263	Transitional endoplasmic reticulum ATPase (TER ATP	P188H	False	False	False	False	False	P55072_187_H
Q9Y4W6	AFG3L2	382	G	V	1	ClinVar	criteria provided, single submitter	0.010037641154328732	Mitochondrial inner membrane m-AAA protease compon	G383V	False	False	False	False	False	Q9Y4W6_382_V
Q93008	USP9X	1236	C	Y	0	ClinVar	criteria provided, single submitter	0.023492560689115115	Ubiquitin carboxyl-terminal hydrolase 9X (EC 3.4.1	C1237Y	False	False	True	True	False	Q93008_1236_Y
Q14896	MYBPC3	525	A	P	1	ClinVar	criteria provided, single submitter	0.016483516483516484	Myosin-binding protein C, cardiac-type (Cardiac My	A526P	False	False	False	False	False	Q14896_525_P
Q9UBK8	MTRR	213	S	N	0	ClinVar	criteria provided, single submitter	0.022922636103151862	Methionine synthase reductase (MSR) (EC 1.16.1.8) 	S214N	False	False	False	False	False	Q9UBK8_213_N
P68133	ACTA1	264	Q	H	1	ClinVar	criteria provided, single submitter	0.015915119363395226	Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-a	Q265H	False	False	False	False	False	P68133_264_H
O75899	GABBR2	574	T	S	1	ClinVar	criteria provided, single submitter	0.019128586609989374	Gamma-aminobutyric acid type B receptor subunit 2 	T575S	False	False	False	False	False	O75899_574_S
Q14315	FLNC	1939	S	R	1	ClinVar	criteria provided, single submitter	0.01651376146788991	Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (A	S1940R	False	False	False	False	False	Q14315_1939_R
Q9H237	PORCN	194	R	Q	0	ClinVar	criteria provided, single submitter	0.026030368763557483	Protein-serine O-palmitoleoyltransferase porcupine	R195Q	False	False	False	False	False	Q9H237_194_Q
O14647	CHD2	1579	R	H	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R1580H	False	False	False	False	False	O14647_1579_H
Q8TCU4	ALMS1	2719	H	Y	1	ClinVar	criteria provided, single submitter	0.010076775431861805	Centrosome-associated protein ALMS1 (Alstrom syndr	H2720Y	False	False	False	False	False	Q8TCU4_2719_Y
Q9Y223	GNE	323	G	R	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	G324R	False	False	False	False	False	Q9Y223_323_R
Q9Y223	GNE	695	V	G	1	ClinVar	criteria provided, single submitter	0.023545706371191136	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N	V696G	False	False	False	False	False	Q9Y223_695_G
Q15049	MLC1	273	T	P	1	ClinVar	criteria provided, single submitter	0.029177718832891247	Membrane protein MLC1 (Megalencephalic leukoenceph	T274P	False	False	False	False	False	Q15049_273_P
P12883	MYH7	391	S	L	1	ClinVar	no assertion criteria provided	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S392L	False	False	False	False	False	P12883_391_L
O00429	DNM1L	148	G	V	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	G149V	False	False	False	False	False	O00429_148_V
P61764	STXBP1	416	G	S	1	ClinVar	no assertion criteria provided	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G417S	False	False	False	False	False	P61764_416_S
Q14721	KCNB1	246	R	G	1	ClinVar	no assertion criteria provided	0.017482517482517484	Potassium voltage-gated channel subfamily B member	R247G	False	False	False	False	False	Q14721_246_G
P10589	NR2F1	370	L	P	1	ClinVar	no assertion criteria provided	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	L371P	False	False	False	True	False	P10589_370_P
Q00577	PURA	156	M	R	1	ClinVar	no assertion criteria provided	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	M157R	False	False	False	False	False	Q00577_156_R
Q99643	SDHC	0	M	K	1	ClinVar	criteria provided, single submitter	0.023668639053254437	Succinate dehydrogenase cytochrome b560 subunit, m	M1K	True	False	False	False	True	Q99643_0_K
Q99250	SCN2A	941	E	Q	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	E942Q	False	False	False	False	False	Q99250_941_Q
P61764	STXBP1	98	Y	C	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	Y99C	False	True	False	True	False	P61764_98_C
Q9NX18	SDHAF2	123	E	Q	1	ClinVar	criteria provided, single submitter	0.006024096385542169	Succinate dehydrogenase assembly factor 2, mitocho	E124Q	False	False	False	False	False	Q9NX18_123_Q
Q16363	LAMA4	519	Q	H	0	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	Q520H	False	False	False	False	False	Q16363_519_H
Q7L3T8	PARS2	423	D	V	1	ClinVar	criteria provided, single submitter	0.037894736842105266	Probable proline--tRNA ligase, mitochondrial (EC 6	D424V	False	False	False	True	False	Q7L3T8_423_V
P19429	TNNI3	151	D	E	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	D152E	False	False	False	False	False	P19429_151_E
P21817	RYR1	4850	L	V	1	ClinVar	reviewed by expert panel	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	L4851V	False	False	False	False	False	P21817_4850_V
P12111	COL6A3	2417	F	Y	1	ClinVar	criteria provided, single submitter	0.009442870632672332	Collagen alpha-3(VI) chain	F2418Y	False	False	False	False	False	P12111_2417_Y
P42704	LRPPRC	748	G	S	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	G749S	False	False	False	False	False	P42704_748_S
P42704	LRPPRC	1087	E	Q	0	ClinVar	criteria provided, single submitter	0.015064562410329985	Leucine-rich PPR motif-containing protein, mitocho	E1088Q	False	False	False	False	False	P42704_1087_Q
Q8IWA4	MFN1	467	L	S	0	ClinVar	criteria provided, single submitter	0.018893387314439947	Mitofusin-1 (EC 3.6.5.-) (Fzo homolog) (Transmembr	L468S	False	False	False	False	False	Q8IWA4_467_S
Q16795	NDUFA9	6	S	P	0	ClinVar	criteria provided, single submitter	0.007957559681697613	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	S7P	True	False	False	False	True	Q16795_6_P
Q9BU61	NDUFAF3	21	V	L	0	ClinVar	criteria provided, single submitter	0.021739130434782608	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	V22L	True	False	False	False	True	Q9BU61_21_L
O75251	NDUFS7	205	R	K	0	ClinVar	criteria provided, single submitter	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	R206K	False	False	False	False	False	O75251_205_K
P49821	NDUFV1	400	R	K	0	ClinVar	criteria provided, single submitter	0.02586206896551724	NADH dehydrogenase [ubiquinone] flavoprotein 1, mi	R401K	False	False	False	False	False	P49821_400_K
P0DJ07	PET100	47	Q	R	0	ClinVar	criteria provided, single submitter	0.0	Protein PET100 homolog, mitochondrial	Q48R	True	False	False	False	True	P0DJ07_47_R
Q9NP81	SARS2	190	M	V	0	ClinVar	criteria provided, single submitter	0.015444015444015444	Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (	M191V	False	False	False	False	False	Q9NP81_190_V
O14521	SDHD	19	L	F	0	ClinVar	criteria provided, single submitter	0.031446540880503145	Succinate dehydrogenase [ubiquinone] cytochrome b 	L20F	True	False	False	True	True	O14521_19_F
Q9NPL8	TIMMDC1	208	F	L	0	ClinVar	criteria provided, single submitter	0.010526315789473684	Complex I assembly factor TIMMDC1, mitochondrial (	F209L	False	False	False	False	False	Q9NPL8_208_L
P22695	UQCRC2	420	N	D	0	ClinVar	criteria provided, single submitter	0.006622516556291391	Cytochrome b-c1 complex subunit 2, mitochondrial (	N421D	False	False	False	False	False	P22695_420_D
Q9BUB7	TMEM70	186	M	V	0	ClinVar	criteria provided, single submitter	0.011538461538461539	Transmembrane protein 70, mitochondrial	M187V	False	False	False	False	False	Q9BUB7_186_V
Q9H845	ACAD9	192	R	Q	0	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	R193Q	False	False	False	False	False	Q9H845_192_Q
Q99807	COQ7	34	R	C	0	ClinVar	criteria provided, single submitter	0.013824884792626729	NADPH-dependent 3-demethoxyubiquinone 3-hydroxylas	R35C	True	True	False	True	True	Q99807_34_C
P10176	COX8A	63	T	S	0	ClinVar	criteria provided, single submitter	0.014492753623188406	Cytochrome c oxidase subunit 8A, mitochondrial (Cy	T64S	False	False	False	False	False	P10176_63_S
Q9NSE4	IARS2	177	M	V	0	ClinVar	criteria provided, single submitter	0.016798418972332016	Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5	M178V	False	False	False	False	False	Q9NSE4_177_V
P15104	GLUL	200	Q	P	1	ClinVar	criteria provided, single submitter	0.029490616621983913	Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate-	Q201P	False	False	False	False	False	P15104_200_P
P12883	MYH7	1914	S	F	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	S1915F	False	False	False	False	False	P12883_1914_F
Q96RR1	TWNK	359	L	G	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	L360G	False	False	False	False	False	Q96RR1_359_G
Q15878	CACNA1E	351	G	E	1	ClinVar	criteria provided, single submitter	0.01556420233463035	Voltage-dependent R-type calcium channel subunit a	G352E	False	False	False	False	False	Q15878_351_E
Q9BV79	MECR	136	T	I	1	ClinVar	criteria provided, single submitter	0.0160857908847185	Enoyl-[acyl-carrier-protein] reductase, mitochondr	T137I	False	False	False	False	False	Q9BV79_136_I
Q16363	LAMA4	1614	S	G	1	ClinVar	criteria provided, single submitter	0.025233132199670872	Laminin subunit alpha-4 (Laminin-14 subunit alpha)	S1615G	False	False	False	False	False	Q16363_1614_G
Q9UQD0	SCN8A	359	F	S	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F360S	False	False	False	False	False	Q9UQD0_359_S
Q5T011	SZT2	2369	L	P	1	ClinVar	criteria provided, single submitter	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	L2370P	False	False	False	False	False	Q5T011_2369_P
P23378	GLDC	713	C	S	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	C714S	False	False	True	True	False	P23378_713_S
O75251	NDUFS7	111	A	V	1	ClinVar	criteria provided, single submitter	0.023474178403755867	NADH dehydrogenase [ubiquinone] iron-sulfur protei	A112V	False	False	False	False	False	O75251_111_V
P09622	DLD	42	D	N	1	ClinVar	criteria provided, single submitter	0.019646365422396856	Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8	D43N	True	False	False	False	True	P09622_42_N
P41221	WNT5A	194	E	R	1	ClinVar	criteria provided, single submitter	0.06315789473684211	Protein Wnt-5a	E195R	False	False	False	True	False	P41221_194_R
Q5BKT4	ALG10	60	M	V	1	ClinVar	criteria provided, single submitter	0.02748414376321353	Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-g	M61V	False	False	False	False	False	Q5BKT4_60_V
P02545	LMNA	30	E	Q	1	ClinVar	criteria provided, single submitter	0.007530120481927711	Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lami	E31Q	True	False	False	False	True	P02545_30_Q
P19429	TNNI3	187	V	G	1	ClinVar	criteria provided, single submitter	0.009523809523809525	Troponin I, cardiac muscle (Cardiac troponin I)	V188G	False	False	False	False	False	P19429_187_G
P50993	ATP1A2	377	T	P	1	ClinVar	criteria provided, single submitter	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	T378P	False	False	False	False	False	P50993_377_P
O14647	CHD2	808	R	G	1	ClinVar	criteria provided, single submitter	0.009299781181619256	Chromodomain-helicase-DNA-binding protein 2 (CHD-2	R809G	False	False	False	False	False	O14647_808_G
Q9H1X1	RSPH9	92	V	L	0	ClinVar	criteria provided, single submitter	0.0036231884057971015	Radial spoke head protein 9 homolog	V93L	False	False	False	False	False	Q9H1X1_92_L
O14746	TERT	926	L	R	1	ClinVar	criteria provided, single submitter	0.02561837455830389	Telomerase reverse transcriptase (EC 2.7.7.49) (HE	L927R	False	False	False	False	False	O14746_926_R
P12883	MYH7	776	R	W	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	R777W	False	False	False	False	False	P12883_776_W
Q96H96	COQ2	143	T	I	1	ClinVar	criteria provided, single submitter	0.0215633423180593	4-hydroxybenzoate polyprenyltransferase, mitochond	T144I	False	False	False	False	False	Q96H96_143_I
Q9UM47	NOTCH3	290	C	Y	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C291Y	False	False	True	True	False	Q9UM47_290_Y
P21912	SDHB	103	N	S	1	ClinVar	criteria provided, single submitter	0.05	Succinate dehydrogenase [ubiquinone] iron-sulfur s	N104S	False	False	False	True	False	P21912_103_S
Q9UM47	NOTCH3	337	C	S	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C338S	False	False	True	True	False	Q9UM47_337_S
Q9UM47	NOTCH3	223	C	S	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C224S	False	False	True	True	False	Q9UM47_223_S
Q9UM47	NOTCH3	1032	C	R	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C1033R	False	False	True	True	False	Q9UM47_1032_R
Q9UM47	NOTCH3	133	C	Y	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C134Y	False	False	True	True	False	Q9UM47_133_Y
Q9UM47	NOTCH3	42	C	G	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C43G	True	False	True	True	True	Q9UM47_42_G
Q9UQD0	SCN8A	1315	V	M	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	V1316M	False	False	False	False	False	Q9UQD0_1315_M
O43526	KCNQ2	212	R	G	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	R213G	False	False	False	False	False	O43526_212_G
P61764	STXBP1	41	S	C	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	S42C	True	True	False	True	True	P61764_41_C
P12883	MYH7	933	A	V	1	ClinVar	criteria provided, single submitter	0.007235142118863049	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chai	A934V	False	False	False	False	False	P12883_933_V
P35498	SCN1A	1644	R	G	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	R1645G	False	False	False	False	False	P35498_1644_G
Q9UQD0	SCN8A	1763	I	V	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	I1764V	False	False	False	False	False	Q9UQD0_1763_V
Q99250	SCN2A	1341	L	R	1	ClinVar	criteria provided, single submitter	0.018952618453865335	Sodium channel protein type 2 subunit alpha (HBSC 	L1342R	False	False	False	False	False	Q99250_1341_R
Q96RR1	TWNK	373	R	L	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	R374L	False	False	False	False	False	Q96RR1_373_L
P28472	GABRB3	306	D	Y	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	D307Y	False	False	False	False	False	P28472_306_Y
P28472	GABRB3	325	F	I	1	ClinVar	criteria provided, single submitter	0.012684989429175475	Gamma-aminobutyric acid receptor subunit beta-3 (G	F326I	False	False	False	False	False	P28472_325_I
O43526	KCNQ2	214	G	V	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G215V	False	False	False	False	False	O43526_214_V
Q9UQD0	SCN8A	1794	F	L	1	ClinVar	criteria provided, single submitter	0.019696969696969695	Sodium channel protein type 8 subunit alpha (Sodiu	F1795L	False	False	False	False	False	Q9UQD0_1794_L
Q8TAB3	PCDH19	22	I	V	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	I23V	True	False	False	False	True	Q8TAB3_22_V
Q9UM47	NOTCH3	448	R	H	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	R449H	False	False	False	True	False	Q9UM47_448_H
O00429	DNM1L	649	L	R	1	ClinVar	criteria provided, single submitter	0.012228260869565218	Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-l	L650R	False	False	False	False	False	O00429_649_R
Q9GZZ9	UBA5	129	A	P	1	ClinVar	criteria provided, single submitter	0.019801980198019802	Ubiquitin-like modifier-activating enzyme 5 (Ubiqu	A130P	False	False	False	False	False	Q9GZZ9_129_P
P18507	GABRG2	309	T	P	1	ClinVar	criteria provided, single submitter	0.021052631578947368	Gamma-aminobutyric acid receptor subunit gamma-2 (	T310P	False	False	False	False	False	P18507_309_P
P15104	GLUL	0	M	T	1	ClinVar	criteria provided, single submitter	0.029490616621983913	Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate-	M1T	True	False	False	False	True	P15104_0_T
O43526	KCNQ2	264	A	S	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	A265S	False	False	False	False	False	O43526_264_S
O43526	KCNQ2	300	G	C	1	ClinVar	criteria provided, single submitter	0.022935779816513763	Potassium voltage-gated channel subfamily KQT memb	G301C	False	True	False	True	False	O43526_300_C
P61764	STXBP1	543	G	S	1	ClinVar	criteria provided, single submitter	0.011784511784511785	Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Pr	G544S	False	False	False	False	False	P61764_543_S
Q13496	MTM1	229	W	C	1	ClinVar	reviewed by expert panel	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	W230C	False	True	False	True	False	Q13496_229_C
P23378	GLDC	768	P	R	1	ClinVar	criteria provided, single submitter	0.027450980392156862	Glycine dehydrogenase (decarboxylating), mitochond	P769R	False	False	False	False	False	P23378_768_R
P28331	NDUFS1	370	V	D	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	V371D	False	False	False	False	False	P28331_370_D
Q9H845	ACAD9	219	A	V	1	ClinVar	criteria provided, single submitter	0.017713365539452495	Complex I assembly factor ACAD9, mitochondrial (Ac	A220V	False	False	False	False	False	Q9H845_219_V
P47869	GABRA2	298	S	R	1	ClinVar	criteria provided, single submitter	0.008869179600886918	Gamma-aminobutyric acid receptor subunit alpha-2 (	S299R	False	False	False	False	False	P47869_298_R
O00555	CACNA1A	1415	C	Y	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	C1416Y	False	False	True	True	False	O00555_1415_Y
P14867	GABRA1	75	S	C	1	ClinVar	criteria provided, single submitter	0.010964912280701754	Gamma-aminobutyric acid receptor subunit alpha-1 (	S76C	False	True	False	True	False	P14867_75_C
Q5T160	RARS2	240	W	R	1	ClinVar	criteria provided, single submitter	0.01384083044982699	Probable arginine--tRNA ligase, mitochondrial (EC 	W241R	False	False	False	False	False	Q5T160_240_R
P09493	TPM1	95	E	D	1	ClinVar	criteria provided, single submitter	0.0035211267605633804	Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tro	E96D	False	False	False	False	False	P09493_95_D
P54098	POLG	291	L	P	1	ClinVar	criteria provided, single submitter	0.016142050040355124	DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5'	L292P	False	False	False	False	False	P54098_291_P
Q5JPH6	EARS2	166	C	R	1	ClinVar	criteria provided, single submitter	0.015296367112810707	Nondiscriminating glutamyl-tRNA synthetase EARS2, 	C167R	False	False	True	True	False	Q5JPH6_166_R
Q96RR1	TWNK	459	A	P	1	ClinVar	criteria provided, single submitter	0.013157894736842105	Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive e	A460P	False	False	False	False	False	Q96RR1_459_P
P46459	NSF	231	R	Q	1	ClinVar	criteria provided, single submitter	0.012096774193548387	Vesicle-fusing ATPase (EC 3.6.4.6) (N-ethylmaleimi	R232Q	False	False	False	False	False	P46459_231_Q
P16389	KCNA2	411	N	K	1	ClinVar	criteria provided, single submitter	0.01603206412825651	Potassium voltage-gated channel subfamily A member	N412K	False	False	False	False	False	P16389_411_K
P21817	RYR1	4920	F	L	1	ClinVar	criteria provided, single submitter	0.019849146486701073	Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal musc	F4921L	False	False	False	False	False	P21817_4920_L
P35498	SCN1A	822	D	V	1	ClinVar	criteria provided, single submitter	0.017919362867098058	Sodium channel protein type 1 subunit alpha (Sodiu	D823V	False	False	False	False	False	P35498_822_V
Q14CZ8	HEPACAM	88	G	R	1	ClinVar	criteria provided, single submitter	0.009615384615384616	Hepatic and glial cell adhesion molecule (glialCAM	G89R	False	False	False	False	False	Q14CZ8_88_R
Q13144	EIF2B5	241	Y	C	1	ClinVar	criteria provided, single submitter	0.018030513176144243	Translation initiation factor eIF2B subunit epsilo	Y242C	False	True	False	True	False	Q13144_241_C
Q13557	CAMK2D	109	E	K	1	ClinVar	criteria provided, single submitter	0.022044088176352707	Calcium/calmodulin-dependent protein kinase type I	E110K	False	False	False	False	False	Q13557_109_K
P07333	CSF1R	817	P	H	1	ClinVar	criteria provided, single submitter	0.021604938271604937	Macrophage colony-stimulating factor 1 receptor (C	P818H	False	False	False	False	False	P07333_817_H
P47870	GABRB2	161	M	I	1	ClinVar	criteria provided, single submitter	0.0078125	Gamma-aminobutyric acid receptor subunit beta-2 (G	M162I	False	False	False	False	False	P47870_161_I
P10589	NR2F1	97	Y	C	1	ClinVar	criteria provided, single submitter	0.04018912529550828	COUP transcription factor 1 (COUP-TF1) (COUP trans	Y98C	False	True	False	True	False	P10589_97_C
P50993	ATP1A2	929	D	V	1	ClinVar	criteria provided, single submitter	0.022549019607843137	Sodium/potassium-transporting ATPase subunit alpha	D930V	False	False	False	False	False	P50993_929_V
Q8TAB3	PCDH19	263	D	N	1	ClinVar	criteria provided, single submitter	0.018292682926829267	Protocadherin-19	D264N	False	False	False	False	False	Q8TAB3_263_N
O76039	CDKL5	183	L	P	1	ClinVar	criteria provided, single submitter	0.00625	Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Ser	L184P	False	False	False	False	False	O76039_183_P
Q13496	MTM1	533	W	S	1	ClinVar	criteria provided, single submitter	0.014925373134328358	Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3	W534S	False	False	False	False	False	Q13496_533_S
O00555	CACNA1A	1256	S	I	1	ClinVar	criteria provided, single submitter	0.0111731843575419	Voltage-dependent P/Q-type calcium channel subunit	S1257I	False	False	False	False	False	O00555_1256_I
P28331	NDUFS1	139	Q	R	1	ClinVar	criteria provided, single submitter	0.024759284731774415	NADH-ubiquinone oxidoreductase 75 kDa subunit, mit	Q140R	False	False	False	False	False	P28331_139_R
Q00577	PURA	198	R	H	1	ClinVar	criteria provided, single submitter	0.006211180124223602	Transcriptional activator protein Pur-alpha (Purin	R199H	False	False	False	False	False	Q00577_198_H
P18031	PTPN1	208	G	R	1	ClinVar	criteria provided, single submitter	0.022988505747126436	Tyrosine-protein phosphatase non-receptor type 1 (	G209R	False	False	False	False	False	P18031_208_R
O15239	NDUFA1	53	I	T	0	ClinVar	criteria provided, single submitter	0.014285714285714285	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex	I54T	False	False	False	False	False	O15239_53_T
Q5T011	SZT2	1843	G	R	1	ClinVar	criteria provided, single submitter	0.020396270396270396	KICSTOR complex protein SZT2 (Seizure threshold 2 	G1844R	False	False	False	False	False	Q5T011_1843_R
P38606	ATP6V1A	356	A	P	1	ClinVar	criteria provided, single submitter	0.011345218800648298	V-type proton ATPase catalytic subunit A (V-ATPase	A357P	False	False	False	False	False	P38606_356_P
Q9UM47	NOTCH3	465	C	W	1	ClinVar	criteria provided, single submitter	0.0995260663507109	Neurogenic locus notch homolog protein 3 (Notch 3)	C466W	False	False	True	True	False	Q9UM47_465_W
Q14721	KCNB1	329	E	K	1	ClinVar	criteria provided, single submitter	0.017482517482517484	Potassium voltage-gated channel subfamily B member	E330K	False	False	False	False	False	Q14721_329_K
Q15784	NEUROD2	263	A	S	1	ClinVar	criteria provided, single submitter	0.01832460732984293	Neurogenic differentiation factor 2 (NeuroD2) (Cla	A264S	False	False	False	False	False	Q15784_263_S
Q8NFF5	FLAD1	249	N	T	1	ClinVar	criteria provided, single submitter	0.022146507666098807	FAD synthase (EC 2.7.7.2) (FAD pyrophosphorylase) 	N250T	False	False	False	False	False	Q8NFF5_249_T
P46459	NSF	221	G	S	1	ClinVar	criteria provided, single submitter	0.012096774193548387	Vesicle-fusing ATPase (EC 3.6.4.6) (N-ethylmaleimi	G222S	False	False	False	False	False	P46459_221_S