ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
781 | 901 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
115 | 251 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
290 | 464 | |
C8orf74 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 130 |
CRE3 | - | - | - |
GRCh38 GRCh38 |
- | 57 |
DEFB134 | - | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 112 |
DEFB135 | - | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 125 |
DEFB136 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 114 |
FAM167A | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 150 | |
FAM167A-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 63 |
There are 108 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 14, 2013 | RCV000140847.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024