ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1901 | 2254 | |
LOC105378073 | - | - | - | GRCh38 | - | 16 |
LOC115308161 | - | - | - | GRCh38 | - | 279 |
LOC123881342 | - | - | - | GRCh38 | - | 16 |
LOC123881343 | - | - | - | GRCh38 | - | 16 |
LOC123881344 | - | - | - | GRCh38 | - | 15 |
LOC123881345 | - | - | - | GRCh38 | - | 16 |
LOC123881346 | - | - | - | GRCh38 | - | 15 |
LOC123881347 | - | - | - | GRCh38 | - | 15 |
LOC129389695 | - | - | - | GRCh38 | - | 16 |
There are 50 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
|
Uncertain significance (1) |
|
Nov 30, 2010 | RCV000135376.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023