ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1
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 |
812 | 935 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 830 | |
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 106 | |
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 |
110 | 289 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
105 | 242 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 179 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 150 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 238 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
712 | 901 |
There are 712 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327729.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024