ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)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 |
518 | 830 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
105 | 242 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 150 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 238 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
299 | 475 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 131 |
CLDN23 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 162 | |
CRE3 | - | - | - |
GRCh38 GRCh38 |
- | 57 |
DEFA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 | |
DEFA1B | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 |
There are 251 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) |
|
Jul 16, 2012 | RCV000138943.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024