ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1
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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
509 | 819 | |
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 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 131 |
CLDN23 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 162 | |
CLN8 | - | - |
GRCh38 GRCh38 GRCh37 |
542 | 704 |
There are 49 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) |
|
Apr 29, 2020 | RCV001251057.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023