ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:8273108-11948451)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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
759 | 878 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
107 | 242 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
79 | 214 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
284 | 457 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 129 |
CLDN23 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 149 | |
CRE3 | - | - | - |
GRCh38 GRCh38 |
- | 57 |
ERI1 | - | - |
GRCh38 GRCh38 GRCh37 |
60 | 192 | |
FAM167A | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 142 | |
FAM167A-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 60 |
There are 181 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) |
|
Jan 27, 2011 | RCV000135749.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023