ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p21(chr2:46179259-47646894)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7325 | 7478 | |
ATP6V1E2 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
BCYRN1 | - | - |
GRCh38 GRCh37 |
- | 29 | |
CALM2 | - | - |
GRCh38 GRCh37 |
177 | 203 | |
CRIPT | - | - |
GRCh38 GRCh37 |
71 | 91 | |
EPAS1 | - | - |
GRCh38 GRCh37 |
1347 | 1536 | |
EPCAM | - | - |
GRCh38 GRCh37 |
722 | 817 | |
MCFD2 | - | - |
GRCh38 GRCh37 |
143 | 246 | |
PIGF | - | - |
GRCh38 GRCh37 |
13 | 41 | |
PRKCE | - | - |
GRCh38 GRCh37 |
16 | 49 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 29, 2018 | RCV001005255.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023