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 8798 Curated Variants
Across 101 Genes
Across 101 Genes
N/A
267
VWF
62
VHL
31
USH2A
47
UBE3A
49
TP53
124
TECTA
10
TCF4
30
SOS2
3
SOS1
70
SLC9A6
28
SLC6A8
139
SLC26A4
27
SHOC2
19
SERPINC1
68
SCN8A
4
SCN3A
5
SCN2A
7
SCN1A
13
RYR1
351
RUNX1
1280
RS1
9
RRAS2
5
RPE65
123
RIT1
3
RAG2
41
RAG1
38
RAF1
43
PTPN11
40
PTEN
188
PPP1CB
3
POLG
23
PMS2
6
PIK3R2
5
PIK3CA
11
PDHA1
9
PALB2
37
PAH
771
OTOF
11
NRAS
15
NEB
10
MYOC
261
MYO7A
29
MYO6
5
MYO15A
14
MYH7
171
MTOR
24
MTM1
12
MT-ATP6
2
MSH6
5
MSH2
12
MRAS
3
MLH1
16
MECP2
147
MAP2K2
48
MAP2K1
25
LZTR1
21
LRRC56
14
LDLR
376
KRAS
14
KLLN
5
KCNQ4
5
JAK3
28
ITGB3
243
ITGA2B
344
IL7R
37
IL2RG
48
HRAS
10
HNF4A
142
HNF1A
350
GJB2
31
GCK
315
GATM
54
GAMT
99
GAA
313
FOXN1
49
FOXG1
55
FBN1
113
F9
39
F8
44
ETHE1
17
ENG
21
DNM2
12
DLG4
1
DICER1
132
DCLRE1C
90
COCH
5
CDKL5
64
CDH23
18
CDH1
324
C12orf43
17
BRCA2
20
BRCA1
20
BRAF
45
BMPR2
55
ATM
53
APC
56
AKT3
3
ADA
55
ACVRL1
16
ACADVL
226
V1.0.32 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)
V1.0.29 NEW-FEATURE: Added document versioning system (2024-04-02)
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.