ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
782 | 904 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
115 | 253 | |
BLK | - | - |
GRCh38 GRCh38 GRCh37 |
291 | 467 | |
FAM167A | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 151 | |
FAM167A-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 63 |
FDFT1 | - | - |
GRCh38 GRCh38 GRCh37 |
80 | 215 | |
LINC00208 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
LINC00529 | - | - | - |
GRCh38 GRCh38 |
- | 54 |
LINC02905 | - | - | - |
GRCh38 GRCh38 |
- | 53 |
LOC101929290 | - | - | - |
GRCh38 GRCh38 |
- | 60 |
There are 80 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050806.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024