The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Gene
Browse Classifications by Gene
Expert Panel
Browse Classifications by Expert Panel
Condition
Browse Classifications by Condition
Classification Summary for 9156 Curated Variants
Across 133 Genes
Across 133 Genes
N/A
203
VWF
66
VHL
31
USH2A
47
UBE3A
50
TP53
124
TECTA
10
TCF4
35
SOS2
3
SOS1
70
SLC9A6
29
SLC6A8
139
SLC26A4
27
SHOC2
19
SGCG
7
SGCD
6
SGCB
6
SGCA
10
SERPINC1
75
SCN8A
4
SCN3A
5
SCN2A
9
SCN1A
13
RYR1
358
RUNX1
1288
RS1
1
RRAS2
5
RPE65
139
RIT1
3
RAG2
41
RAG1
38
RAF1
43
PTPN11
40
PTEN
193
PPP1CB
3
POLG
23
PMS2
6
PIK3R2
5
PIK3CA
11
PDHA1
9
PALB2
37
PAH
775
OTOF
12
NRAS
15
NEB
10
MYOC
262
MYO7A
29
MYO6
5
MYO15A
14
MYH7
171
MTOR
24
MTM1
12
MT-TV
1
MT-TS2
2
MT-TS1
3
MT-TP
1
MT-TN
1
MT-TM
1
MT-TL2
2
MT-TL1
2
MT-TK
1
MT-TI
1
MT-TC
1
MT-TA
1
MT-RNR1
2
MT-ND6
1
MT-ND5
5
MT-ND3
2
MT-ND2
3
MT-ND1
1
MT-CYB
2
MT-CO3
1
MT-CO2
3
MT-CO1
7
MT-ATP8
1
MT-ATP6
8
MSH6
5
MSH2
12
MRAS
3
MLH1
16
MECP2
163
MAP2K2
48
MAP2K1
25
LZTR1
21
LRRC56
14
LDLR
403
KRAS
15
KLLN
4
KCNQ4
5
JAK3
28
ITGB3
245
ITGA2B
353
IL7R
37
IL2RG
48
IDUA
54
HRAS
10
HNF4A
172
HNF1A
358
GJB2
31
GCK
341
GATM
54
GAMT
99
GAA
322
FOXN1
49
FOXG1
58
FBN1
114
F9
43
F8
49
ETHE1
18
ENG
21
DYSF
13
DNM2
12
DLG4
1
DICER1
132
DCLRE1C
90
COCH
5
CDKL5
73
CDH23
18
CDH1
331
CAPN3
9
C12orf43
17
BRCA2
20
BRCA1
20
BRAF
45
BMPR2
64
ATM
54
APC
60
ANO5
8
AKT3
3
ADA
56
ACVRL1
16
ACTA1
29
ACADVL
229
V2.1.0 NEW-FEATURE: Increased API version endpoint flexibility for truncated version numbers that include only major and minor digits (2024-12-10)
V2.0.0 NEW-FEATURE: Integrated document versions for all interpretations. (2024-10-30)
V1.0.31 NEW-FEATURE: Moved Approval and Publication dates in each interpretation page (2024-07-05)
V1.0.30 NEW-FEATURE: Updated API documentation for Evidence Repository (2024-05-07)
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.