ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3
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 | |
DEFB103A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 191 |
DEFB103B | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 195 | |
DEFB104A | - | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 198 |
DEFB104B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
4 | 202 |
There are 39 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 17, 2022 | RCV003329529.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023