ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3
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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
804 | 927 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
116 | 254 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
299 | 475 | |
DEFB135 | - | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 127 |
DEFB136 | - | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 116 |
FAM167A | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 155 | |
FDFT1 | - | - |
GRCh38 GRCh38 GRCh37 |
88 | 223 | |
LINC00208 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
LINC02905 | - | - | - |
GRCh38 GRCh38 |
- | 53 |
LOC110120689 | - | - | - |
GRCh38 GRCh38 |
- | 55 |
There are 59 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) |
|
Apr 30, 2011 | RCV000141378.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024