ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.3(chr6:156228411-157108989)x1
Germline
Classification
(1)
Likely 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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1773 | 2099 | |
LOC105378073 | - | - | - | GRCh38 | - | 16 |
LOC115308161 | - | - | - | GRCh38 | - | 256 |
LOC123881342 | - | - | - | GRCh38 | - | 16 |
LOC123881343 | - | - | - | GRCh38 | - | 16 |
LOC123881344 | - | - | - | GRCh38 | - | 15 |
LOC129389695 | - | - | - | GRCh38 | - | 16 |
LOC129389696 | - | - | - | GRCh38 | - | 15 |
LOC129389697 | - | - | - | GRCh38 | - | 17 |
LOC129389698 | - | - | - | GRCh38 | - | 17 |
There are 33 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) |
|
Sep 1, 2017 | RCV000050777.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023