ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3
Germline
Classification
(1)
Likely pathogenic
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 |
7313 | 7466 | |
MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9037 | 9343 | |
BCYRN1 | - | - |
GRCh38 GRCh37 |
- | 29 | |
CALM2 | - | - |
GRCh38 GRCh37 |
177 | 203 | |
EPCAM | - | - |
GRCh38 GRCh37 |
722 | 817 | |
EPCAM-DT | - | - | - | GRCh38 | - | 8 |
FBXO11 | - | - |
GRCh38 GRCh37 |
631 | 955 | |
FOXN2 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
KCNK12 | - | - |
GRCh38 GRCh37 |
- | 59 | |
LOC100506235 | - | - | - | GRCh38 | - | 157 |
There are 52 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 10, 2011 | RCV000139665.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024