Hugging Face's logo

Datasets:
HarriziSaad
/
IDP-Pathogenicity-Model

Languages:
English
Tags:
mitochondrial-variants
pathogenicity-prediction
protein-language-model
ESM-2
machine-learning
bioinformatics
License:
Dataset card Files
xet
 Community
IDP-Pathogenicity-Model / data /processed /mutations_dataset_mito_strict.tsv
HarriziSaad's picture
HarriziSaad
upload dataset
0bb0bcb
raw
history blame contribute delete
495 kB
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 is_strict_mito
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True
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 True