ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)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 |
795 | 917 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
509 | 819 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
116 | 254 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
107 | 286 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
104 | 241 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 150 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 236 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
709 | 898 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
293 | 469 | |
C8orf48 | - | - | - |
GRCh38 GRCh37 |
1 | 113 |
There are 463 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053603.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024