ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)
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 | |||
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 102 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 172 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 137 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 139 | |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 121 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
872 | 1006 | |
ASAH1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 95 |
ATP6V1B2 | - | - |
GRCh38 GRCh37 |
95 | 189 | |
BIN3 | - | - |
GRCh38 GRCh37 |
23 | 116 | |
BMP1 | - | - |
GRCh38 GRCh37 |
711 | 999 |
There are 60 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 30, 2011 | RCV000447428.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024