ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1
Germline
Classification
(1)
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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
781 | 901 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
115 | 251 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
98 | 234 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
290 | 464 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 130 |
CLDN23 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 154 | |
CRE3 | - | - | - |
GRCh38 GRCh38 |
- | 57 |
DEFB130B | - | - | - | GRCh38 | - | 38 |
DEFB134 | - | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 112 |
DEFB135 | - | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 125 |
There are 197 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) |
|
Aug 12, 2011 | RCV000148286.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023