ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
7315 | 7468 | |
MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9037 | 9343 | |
NRXN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2288 | 2353 | |
SIX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
190 | 216 | |
ABCG5 | - | - |
GRCh38 GRCh37 |
177 | 705 | |
ABCG8 | - | - |
GRCh38 GRCh37 |
705 | 768 | |
ACYP2 | - | - |
GRCh38 GRCh37 |
12 | 75 | |
ASB3 | - | - |
GRCh38 GRCh37 |
- | 39 | |
ATP6V1E2 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
BCYRN1 | - | - |
GRCh38 GRCh37 |
- | 29 |
There are 435 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052943.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023