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 |
781 | 902 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
479 | 775 | |
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 102 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
115 | 252 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
100 | 276 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
98 | 235 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 172 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 149 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 235 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
693 | 880 |
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 Mar 30, 2024