ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1796 | 2130 | |
CLDN20 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
CNKSR3 | - | - |
GRCh38 GRCh37 |
34 | 60 | |
DYNLT1 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
EZR | - | - |
GRCh38 GRCh37 |
65 | 98 | |
EZR-AS1 | - | - | - | GRCh38 | - | 12 |
GTF2H5 | - | - |
GRCh38 GRCh37 |
61 | 91 | |
IPCEF1 | - | - |
GRCh38 GRCh37 |
- | 46 | |
LINC02901 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
LOC105378068 | - | - | - | GRCh38 | - | 11 |
There are 180 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
|
Likely pathogenic (1) |
|
Dec 13, 2010 | RCV000134896.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024