text
stringlengths 170
217
| clean_label
stringclasses 2
values | Name
stringlengths 24
50
| Assembly
stringclasses 1
value | chrom
stringclasses 25
values | pos
stringlengths 3
9
| ref
stringclasses 4
values | alt
stringclasses 4
values | gnomad_af
float64 0
1
|
|---|---|---|---|---|---|---|---|---|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PROC
Variant: NM_000312.4(PROC):c.436G>T (p.Gly146Cys)
### Response:
|
Pathogenic
|
NM_000312.4(PROC):c.436G>T (p.Gly146Cys)
|
GRCh38
|
2
|
127423309
|
G
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ADGRV1
Variant: NM_032119.4(ADGRV1):c.6314T>C (p.Ile2105Thr)
### Response:
|
Benign
|
NM_032119.4(ADGRV1):c.6314T>C (p.Ile2105Thr)
|
GRCh38
|
5
|
90685819
|
T
|
C
| 0.000005
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SYNGAP1
Variant: NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
### Response:
|
Pathogenic
|
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
|
GRCh38
|
6
|
33440950
|
T
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: RGR
Variant: NM_001012720.2(RGR):c.273C>T (p.His91=)
### Response:
|
Benign
|
NM_001012720.2(RGR):c.273C>T (p.His91=)
|
GRCh38
|
10
|
84248958
|
C
|
T
| 0.000032
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: MUTYH
Variant: NM_001048174.2(MUTYH):c.1021G>T (p.Glu341Ter)
### Response:
|
Pathogenic
|
NM_001048174.2(MUTYH):c.1021G>T (p.Glu341Ter)
|
GRCh38
|
1
|
45331742
|
C
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: HPS4
Variant: NM_022081.6(HPS4):c.1234C>T (p.Leu412=)
### Response:
|
Benign
|
NM_022081.6(HPS4):c.1234C>T (p.Leu412=)
|
GRCh38
|
22
|
26464396
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CCDC39
Variant: NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter)
### Response:
|
Pathogenic
|
NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter)
|
GRCh38
|
3
|
180660593
|
G
|
A
| 0.000002
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: EGFR
Variant: NM_005228.5(EGFR):c.3522G>A (p.Gln1174=)
### Response:
|
Benign
|
NM_005228.5(EGFR):c.3522G>A (p.Gln1174=)
|
GRCh38
|
7
|
55205506
|
G
|
A
| 0.000003
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: FOXA2
Variant: NM_021784.5(FOXA2):c.619C>T (p.Gln207Ter)
### Response:
|
Pathogenic
|
NM_021784.5(FOXA2):c.619C>T (p.Gln207Ter)
|
GRCh38
|
20
|
22582623
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: LRPPRC
Variant: NM_133259.4(LRPPRC):c.30G>A (p.Trp10Ter)
### Response:
|
Pathogenic
|
NM_133259.4(LRPPRC):c.30G>A (p.Trp10Ter)
|
GRCh38
|
2
|
43995918
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SFTPC
Variant: NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)
### Response:
|
Pathogenic
|
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)
|
GRCh38
|
8
|
22163096
|
T
|
C
| 0.000003
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CPS1
Variant: NM_001875.5(CPS1):c.947+1G>A
### Response:
|
Pathogenic
|
NM_001875.5(CPS1):c.947+1G>A
|
GRCh38
|
2
|
210590907
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: BARD1
Variant: NM_000465.4(BARD1):c.1314+1G>A
### Response:
|
Pathogenic
|
NM_000465.4(BARD1):c.1314+1G>A
|
GRCh38
|
2
|
214780559
|
C
|
T
| 0.000002
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ABCC8
Variant: NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)
### Response:
|
Pathogenic
|
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)
|
GRCh38
|
11
|
17461731
|
A
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: STXBP2
Variant: NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
### Response:
|
Pathogenic
|
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
|
GRCh38
|
19
|
7644644
|
G
|
T
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: LAMA5
Variant: NM_005560.6(LAMA5):c.6804C>T (p.Thr2268=)
### Response:
|
Benign
|
NM_005560.6(LAMA5):c.6804C>T (p.Thr2268=)
|
GRCh38
|
20
|
62319751
|
G
|
A
| 0.000157
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: VPS13B
Variant: NM_152564.5(VPS13B):c.11216-1G>A
### Response:
|
Pathogenic
|
NM_152564.5(VPS13B):c.11216-1G>A
|
GRCh38
|
8
|
99868288
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CDH23
Variant: NM_022124.6(CDH23):c.2025C>T (p.Ala675=)
### Response:
|
Benign
|
NM_022124.6(CDH23):c.2025C>T (p.Ala675=)
|
GRCh38
|
10
|
71687685
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ACADVL
Variant: NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)
### Response:
|
Pathogenic
|
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)
|
GRCh38
|
17
|
7222263
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CSF1R
Variant: NM_001288705.3(CSF1R):c.1991A>T (p.Glu664Val)
### Response:
|
Pathogenic
|
NM_001288705.3(CSF1R):c.1991A>T (p.Glu664Val)
|
GRCh38
|
5
|
150059841
|
T
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TAB2
Variant: NM_001292034.3(TAB2):c.1858+9C>A
### Response:
|
Benign
|
NM_001292034.3(TAB2):c.1858+9C>A
|
GRCh38
|
6
|
149398071
|
C
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: LIFR
Variant: NM_001127671.2(LIFR):c.1566G>A (p.Trp522Ter)
### Response:
|
Pathogenic
|
NM_001127671.2(LIFR):c.1566G>A (p.Trp522Ter)
|
GRCh38
|
5
|
38502671
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: LDHA
Variant: NM_005566.4(LDHA):c.-25+130A>C
### Response:
|
Benign
|
NM_005566.4(LDHA):c.-25+130A>C
|
GRCh38
|
11
|
18394766
|
A
|
C
| 0.00883
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SLC22A5
Variant: NM_003060.4(SLC22A5):c.228G>A (p.Glu76=)
### Response:
|
Benign
|
NM_003060.4(SLC22A5):c.228G>A (p.Glu76=)
|
GRCh38
|
5
|
132370200
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CEP290
Variant: NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
### Response:
|
Pathogenic
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
GRCh38
|
12
|
88055698
|
T
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PGM3
Variant: NM_015599.3(PGM3):c.-2-648A>G
### Response:
|
Benign
|
NM_015599.3(PGM3):c.-2-648A>G
|
GRCh38
|
6
|
83191662
|
T
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TRIOBP
Variant: NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter)
### Response:
|
Pathogenic
|
NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter)
|
GRCh38
|
22
|
37725524
|
C
|
T
| 0.00001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: G6PC3
Variant: NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln)
### Response:
|
Pathogenic
|
NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln)
|
GRCh38
|
17
|
44075034
|
G
|
A
| 0.000008
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ABCA12
Variant: NM_173076.3(ABCA12):c.1782+7T>C
### Response:
|
Benign
|
NM_173076.3(ABCA12):c.1782+7T>C
|
GRCh38
|
2
|
215018001
|
A
|
G
| 0.000004
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: HLCS
Variant: NM_001352514.2(HLCS):c.1960+5G>A
### Response:
|
Pathogenic
|
NM_001352514.2(HLCS):c.1960+5G>A
|
GRCh38
|
21
|
36767213
|
C
|
T
| 0.000061
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TREX1
Variant: NM_033629.6(TREX1):c.318C>T (p.Asn106=)
### Response:
|
Benign
|
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
|
GRCh38
|
3
|
48466973
|
C
|
T
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CYP11B2
Variant: NM_000498.3(CYP11B2):c.501C>T (p.Asp167=)
### Response:
|
Benign
|
NM_000498.3(CYP11B2):c.501C>T (p.Asp167=)
|
GRCh38
|
8
|
142915140
|
G
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ZNF469
Variant: NM_001367624.2(ZNF469):c.1338C>G (p.Ala446=)
### Response:
|
Benign
|
NM_001367624.2(ZNF469):c.1338C>G (p.Ala446=)
|
GRCh38
|
16
|
88428808
|
C
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CDH1
Variant: NM_004360.5(CDH1):c.687+66A>G
### Response:
|
Benign
|
NM_004360.5(CDH1):c.687+66A>G
|
GRCh38
|
16
|
68808914
|
A
|
G
| 0.001451
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TTN
Variant: NM_001267550.2(TTN):c.55732+17A>C
### Response:
|
Benign
|
NM_001267550.2(TTN):c.55732+17A>C
|
GRCh38
|
2
|
178601248
|
T
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: DGAT1
Variant: NM_012079.6(DGAT1):c.1020G>A (p.Trp340Ter)
### Response:
|
Pathogenic
|
NM_012079.6(DGAT1):c.1020G>A (p.Trp340Ter)
|
GRCh38
|
8
|
144317407
|
C
|
T
| 0.000017
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TTN
Variant: NM_001267550.2(TTN):c.21621C>T (p.Tyr7207=)
### Response:
|
Benign
|
NM_001267550.2(TTN):c.21621C>T (p.Tyr7207=)
|
GRCh38
|
2
|
178723479
|
G
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: FAIM2
Variant: NM_012306.4(FAIM2):c.520G>A (p.Val174Ile)
### Response:
|
Benign
|
NM_012306.4(FAIM2):c.520G>A (p.Val174Ile)
|
GRCh38
|
12
|
49890688
|
C
|
T
| 0.000023
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: COL6A1
Variant: NM_001848.3(COL6A1):c.1336-12G>A
### Response:
|
Benign
|
NM_001848.3(COL6A1):c.1336-12G>A
|
GRCh38
|
21
|
45994155
|
G
|
A
| 0.000032
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: USH2A
Variant: NM_206933.4(USH2A):c.6325+2T>G
### Response:
|
Pathogenic
|
NM_206933.4(USH2A):c.6325+2T>G
|
GRCh38
|
1
|
216046429
|
A
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: COL4A5
Variant: NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)
### Response:
|
Pathogenic
|
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)
|
GRCh38
|
X
|
108606884
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: FBN1
Variant: NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
### Response:
|
Benign
|
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
|
GRCh38
|
15
|
48489972
|
G
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ANO10
Variant: NM_018075.5(ANO10):c.*432G>T
### Response:
|
Benign
|
NM_018075.5(ANO10):c.*432G>T
|
GRCh38
|
3
|
43366474
|
C
|
A
| 0.011614
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TTN
Variant: NM_001267550.2(TTN):c.39127+15T>A
### Response:
|
Benign
|
NM_001267550.2(TTN):c.39127+15T>A
|
GRCh38
|
2
|
178652443
|
A
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: HMOX1
Variant: NM_002133.3(HMOX1):c.610A>T (p.Lys204Ter)
### Response:
|
Pathogenic
|
NM_002133.3(HMOX1):c.610A>T (p.Lys204Ter)
|
GRCh38
|
22
|
35387150
|
A
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: GATM
Variant: NM_001482.3(GATM):c.814-9T>C
### Response:
|
Benign
|
NM_001482.3(GATM):c.814-9T>C
|
GRCh38
|
15
|
45366219
|
A
|
G
| 0.000013
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: IQSEC2
Variant: NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)
### Response:
|
Pathogenic
|
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)
|
GRCh38
|
X
|
53243367
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: APOA1
Variant: NM_000039.3(APOA1):c.693C>G (p.Ala231=)
### Response:
|
Benign
|
NM_000039.3(APOA1):c.693C>G (p.Ala231=)
|
GRCh38
|
11
|
116835919
|
G
|
C
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: AFF4
Variant: NM_014423.4(AFF4):c.2307+18G>A
### Response:
|
Benign
|
NM_014423.4(AFF4):c.2307+18G>A
|
GRCh38
|
5
|
132896305
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: KMT2D
Variant: NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter)
### Response:
|
Pathogenic
|
NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter)
|
GRCh38
|
12
|
49034644
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: EIF2AK4
Variant: NM_001013703.4(EIF2AK4):c.860-1G>A
### Response:
|
Pathogenic
|
NM_001013703.4(EIF2AK4):c.860-1G>A
|
GRCh38
|
15
|
39965685
|
G
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CFTR
Variant: NM_000492.4(CFTR):c.3139+11G>C
### Response:
|
Benign
|
NM_000492.4(CFTR):c.3139+11G>C
|
GRCh38
|
7
|
117610680
|
G
|
C
| 0.000002
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CPT1A
Variant: NM_001876.4(CPT1A):c.1716G>A (p.Leu572=)
### Response:
|
Benign
|
NM_001876.4(CPT1A):c.1716G>A (p.Leu572=)
|
GRCh38
|
11
|
68773289
|
C
|
T
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: OBSCN
Variant: NM_001386125.1(OBSCN):c.8467G>A (p.Ala2823Thr)
### Response:
|
Benign
|
NM_001386125.1(OBSCN):c.8467G>A (p.Ala2823Thr)
|
GRCh38
|
1
|
228279228
|
G
|
A
| 0.000044
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SLC1A2
Variant: NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln)
### Response:
|
Benign
|
NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln)
|
GRCh38
|
11
|
35317442
|
C
|
T
| 0.000211
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SMARCA4
Variant: NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter)
### Response:
|
Pathogenic
|
NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter)
|
GRCh38
|
19
|
11010421
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: NAA10
Variant: NM_003491.4(NAA10):c.236G>A (p.Arg79His)
### Response:
|
Pathogenic
|
NM_003491.4(NAA10):c.236G>A (p.Arg79His)
|
GRCh38
|
X
|
153932421
|
C
|
T
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ERCC6L2
Variant: NM_020207.7(ERCC6L2):c.2954A>T (p.Asp985Val)
### Response:
|
Benign
|
NM_020207.7(ERCC6L2):c.2954A>T (p.Asp985Val)
|
GRCh38
|
9
|
95972705
|
A
|
T
| 0.00007
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: VPS13A
Variant: NM_033305.3(VPS13A):c.2428-6T>C
### Response:
|
Benign
|
NM_033305.3(VPS13A):c.2428-6T>C
|
GRCh38
|
9
|
77273274
|
T
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TTN
Variant: NM_001267550.2(TTN):c.42024+6T>C
### Response:
|
Benign
|
NM_001267550.2(TTN):c.42024+6T>C
|
GRCh38
|
2
|
178635159
|
A
|
G
| 0.000567
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: BRCA2
Variant: NM_000059.4(BRCA2):c.8058T>A (p.Leu2686=)
### Response:
|
Benign
|
NM_000059.4(BRCA2):c.8058T>A (p.Leu2686=)
|
GRCh38
|
13
|
32363260
|
T
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: EVC
Variant: NM_153717.3(EVC):c.822G>A (p.Lys274=)
### Response:
|
Benign
|
NM_153717.3(EVC):c.822G>A (p.Lys274=)
|
GRCh38
|
4
|
5745224
|
G
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ELP1
Variant: NM_003640.5(ELP1):c.3573-1G>A
### Response:
|
Pathogenic
|
NM_003640.5(ELP1):c.3573-1G>A
|
GRCh38
|
9
|
108878751
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PKHD1
Variant: NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
### Response:
|
Pathogenic
|
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
|
GRCh38
|
6
|
51659898
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: LAMC2
Variant: NM_005562.3(LAMC2):c.2778T>G (p.Arg926=)
### Response:
|
Benign
|
NM_005562.3(LAMC2):c.2778T>G (p.Arg926=)
|
GRCh38
|
1
|
183238330
|
T
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: USH2A
Variant: NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
### Response:
|
Pathogenic
|
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
|
GRCh38
|
1
|
216078142
|
C
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PRR21
Variant: NC_000002.12:g.240042159C>G
### Response:
|
Benign
|
NC_000002.12:g.240042159C>G
|
GRCh38
|
2
|
240042159
|
C
|
G
| 0.006606
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: FREM1
Variant: NM_001379081.2(FREM1):c.5761C>T (p.Gln1921Ter)
### Response:
|
Pathogenic
|
NM_001379081.2(FREM1):c.5761C>T (p.Gln1921Ter)
|
GRCh38
|
9
|
14748436
|
G
|
A
| 0.00001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CYP1B1
Variant: NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)
### Response:
|
Pathogenic
|
NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)
|
GRCh38
|
2
|
38074899
|
G
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: ATR
Variant: NM_001184.4(ATR):c.7365A>C (p.Ser2455=)
### Response:
|
Benign
|
NM_001184.4(ATR):c.7365A>C (p.Ser2455=)
|
GRCh38
|
3
|
142459096
|
T
|
G
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: DSG2
Variant: NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)
### Response:
|
Pathogenic
|
NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)
|
GRCh38
|
18
|
31541283
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PTCH2
Variant: NM_003738.5(PTCH2):c.3115-212G>A
### Response:
|
Benign
|
NM_003738.5(PTCH2):c.3115-212G>A
|
GRCh38
|
1
|
44823597
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: C1QB
Variant: NM_001378156.1(C1QB):c.267C>G (p.Pro89=)
### Response:
|
Benign
|
NM_001378156.1(C1QB):c.267C>G (p.Pro89=)
|
GRCh38
|
1
|
22660897
|
C
|
G
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SBF2
Variant: NM_030962.4(SBF2):c.56-1G>A
### Response:
|
Pathogenic
|
NM_030962.4(SBF2):c.56-1G>A
|
GRCh38
|
11
|
10193988
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: COL5A1
Variant: NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter)
### Response:
|
Pathogenic
|
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter)
|
GRCh38
|
9
|
134750853
|
C
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: HBA2
Variant: NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)
### Response:
|
Pathogenic
|
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)
|
GRCh38
|
16
|
173229
|
T
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: F2
Variant: NM_000506.5(F2):c.261C>T (p.Tyr87=)
### Response:
|
Benign
|
NM_000506.5(F2):c.261C>T (p.Tyr87=)
|
GRCh38
|
11
|
46720543
|
C
|
T
| 0.000047
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: AGL
Variant: NM_000642.3(AGL):c.3700+236G>A
### Response:
|
Benign
|
NM_000642.3(AGL):c.3700+236G>A
|
GRCh38
|
1
|
99903030
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TSHR
Variant: NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
### Response:
|
Pathogenic
|
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
|
GRCh38
|
14
|
81143407
|
G
|
A
| 0.000111
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CLN3
Variant: NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
### Response:
|
Benign
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
GRCh38
|
16
|
28491715
|
C
|
T
| 0.000926
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PDGFRA
Variant: NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val)
### Response:
|
Pathogenic
|
NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val)
|
GRCh38
|
4
|
54285938
|
A
|
T
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: DARS2
Variant: NM_018122.5(DARS2):c.1440G>A (p.Trp480Ter)
### Response:
|
Pathogenic
|
NM_018122.5(DARS2):c.1440G>A (p.Trp480Ter)
|
GRCh38
|
1
|
173853444
|
G
|
A
| 0.000004
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: KMT2A
Variant: NM_001197104.2(KMT2A):c.10835+13A>G
### Response:
|
Benign
|
NM_001197104.2(KMT2A):c.10835+13A>G
|
GRCh38
|
11
|
118507622
|
A
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PIK3C2A
Variant: NM_002645.4(PIK3C2A):c.493C>T (p.Gln165Ter)
### Response:
|
Pathogenic
|
NM_002645.4(PIK3C2A):c.493C>T (p.Gln165Ter)
|
GRCh38
|
11
|
17169249
|
G
|
A
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: AGPS
Variant: NM_003659.4(AGPS):c.1476-5T>C
### Response:
|
Benign
|
NM_003659.4(AGPS):c.1476-5T>C
|
GRCh38
|
2
|
177505501
|
T
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CAPN3
Variant: NM_000070.3(CAPN3):c.632+263A>G
### Response:
|
Benign
|
NM_000070.3(CAPN3):c.632+263A>G
|
GRCh38
|
15
|
42388149
|
A
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: LARGE1
Variant: NM_133642.5(LARGE1):c.788-8C>T
### Response:
|
Benign
|
NM_133642.5(LARGE1):c.788-8C>T
|
GRCh38
|
22
|
33432273
|
G
|
A
| 0.000022
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PIGG
Variant: NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
### Response:
|
Pathogenic
|
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
|
GRCh38
|
4
|
516002
|
C
|
T
| 0.000001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: PEX1
Variant: NM_000466.3(PEX1):c.1359+13A>G
### Response:
|
Benign
|
NM_000466.3(PEX1):c.1359+13A>G
|
GRCh38
|
7
|
92513835
|
T
|
C
| 0.000006
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TGIF1
Variant: NM_003244.4(TGIF1):c.188C>G (p.Pro63Arg)
### Response:
|
Pathogenic
|
NM_003244.4(TGIF1):c.188C>G (p.Pro63Arg)
|
GRCh38
|
18
|
3456525
|
C
|
G
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: VRK1
Variant: NM_003384.3(VRK1):c.897T>C (p.Ile299=)
### Response:
|
Benign
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
GRCh38
|
14
|
96860564
|
T
|
C
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: MYO7A
Variant: NM_000260.4(MYO7A):c.6052-19C>G
### Response:
|
Benign
|
NM_000260.4(MYO7A):c.6052-19C>G
|
GRCh38
|
11
|
77211133
|
C
|
G
| 0.000004
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: RPL5
Variant: NM_000969.5(RPL5):c.794+121G>A
### Response:
|
Benign
|
NM_000969.5(RPL5):c.794+121G>A
|
GRCh38
|
1
|
92840760
|
G
|
A
| 0.669005
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: RIT1
Variant: NM_006912.6(RIT1):c.486G>A (p.Glu162=)
### Response:
|
Benign
|
NM_006912.6(RIT1):c.486G>A (p.Glu162=)
|
GRCh38
|
1
|
155900562
|
C
|
T
| 0.000003
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: SHROOM2
Variant: NM_001649.4(SHROOM2):c.2859A>G (p.Ala953=)
### Response:
|
Benign
|
NM_001649.4(SHROOM2):c.2859A>G (p.Ala953=)
|
GRCh38
|
X
|
9898258
|
A
|
G
| 0.001652
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: UNC13D
Variant: NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)
### Response:
|
Pathogenic
|
NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)
|
GRCh38
|
17
|
75840086
|
G
|
A
| 0
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: DUOX2
Variant: NM_001363711.2(DUOX2):c.3565+9C>T
### Response:
|
Benign
|
NM_001363711.2(DUOX2):c.3565+9C>T
|
GRCh38
|
15
|
45098000
|
G
|
A
| 0.000025
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TTC21B
Variant: NM_024753.5(TTC21B):c.1854G>A (p.Ser618=)
### Response:
|
Benign
|
NM_024753.5(TTC21B):c.1854G>A (p.Ser618=)
|
GRCh38
|
2
|
165917302
|
C
|
T
| 0.000029
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: TNNI2
Variant: NM_003282.4(TNNI2):c.423G>C (p.Leu141=)
### Response:
|
Benign
|
NM_003282.4(TNNI2):c.423G>C (p.Leu141=)
|
GRCh38
|
11
|
1841177
|
G
|
C
| 0.00001
|
Below is a biological context regarding a genetic variant. Determine if it is Pathogenic or Benign.
### Input:
Gene: CHAT
Variant: NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
### Response:
|
Pathogenic
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
GRCh38
|
10
|
49651888
|
G
|
T
| 0.000001
|
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