ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
479 | 775 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
99 | 275 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 149 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 234 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
691 | 878 | |
CLN8 | - | - |
GRCh38 GRCh38 GRCh37 |
538 | 699 | |
DEFA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 | |
DEFA1B | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 |
DEFA3 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 115 | |
DEFA4 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 121 |
There are 29 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767677.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023