ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3
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 | |||
ZIC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
323 | 466 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
16 | 133 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
10 | 120 | |
ARGLU1-DT | - | - | - | GRCh38 | - | 41 |
BIVM | - | - |
GRCh38 GRCh37 |
- | 111 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 528 |
CARS2 | - | - |
GRCh38 GRCh37 |
687 | 886 | |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
421 | 521 |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 124 | |
CLYBL-AS1 | - | - | - | GRCh38 | - | 30 |
There are 361 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) |
|
Jul 25, 2012 | RCV000139021.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024