ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1
Germline
Classification
(1)
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1774 | 2100 | |
AKAP12 | - | - |
GRCh38 GRCh37 |
89 | 109 | |
ARMT1 | - | - |
GRCh38 GRCh37 |
18 | 37 | |
CCDC170 | - | - | - |
GRCh38 GRCh37 |
43 | 62 |
CLDN20 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
CNKSR3 | - | - |
GRCh38 GRCh37 |
24 | 49 | |
DYNLT1 | - | - |
GRCh38 GRCh37 |
6 | 32 | |
ESR1 | - | - |
GRCh38 GRCh37 |
109 | 208 | |
EZR | - | - |
GRCh38 GRCh37 |
58 | 89 | |
EZR-AS1 | - | - | - | GRCh38 | - | 12 |
There are 280 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000139578.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023