ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)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 |
759 | 878 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
418 | 692 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
107 | 242 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
82 | 255 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
79 | 214 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 136 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 229 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
675 | 860 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
284 | 457 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 129 |
There are 372 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 | RCV000053600.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023