ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
758 | 878 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
451 | 728 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
107 | 245 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
84 | 259 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
91 | 230 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 139 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 230 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
681 | 869 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
286 | 460 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 132 |
There are 385 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) |
|
Mar 9, 2012 | RCV000137984.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023