ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)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 |
859 | 983 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
566 | 909 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
121 | 261 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
127 | 312 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
128 | 266 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
90 | 190 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 158 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 255 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
734 | 928 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
888 | 1024 |
There are 679 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) |
|
Nov 30, 2009 | RCV000135967.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024