ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)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 | |||
AKAP6 | - | - |
GRCh38 GRCh37 |
111 | 134 | |
AP4S1 | - | - |
GRCh38 GRCh37 |
130 | 162 | |
ARHGAP5 | - | - |
GRCh38 GRCh37 |
53 | 79 | |
ARHGAP5-AS1 | - | - | - | GRCh38 | - | 12 |
COCH | - | - |
GRCh38 GRCh37 |
33 | 266 | |
DTD2 | - | - | - |
GRCh38 GRCh37 |
- | 34 |
G2E3 | - | - |
GRCh38 GRCh37 |
18 | 41 | |
G2E3-AS1 | - | - | - | GRCh38 | - | 9 |
GPR33 | - | - |
GRCh38 GRCh37 |
14 | 47 | |
HEATR5A | - | - | - |
GRCh38 GRCh37 |
100 | 132 |
There are 65 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 10, 2014 | RCV000142290.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023