ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p21.3(chr9:20951885-22447709)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 | |||
CDKN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | - | |
MTAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | - | |
CDKN2B | - | - |
GRCh38 GRCh37 |
- | - | |
CDKN2B-AS1 | - | - |
GRCh38 GRCh37 |
- | - | |
DMRTA1 | - | - |
GRCh38 GRCh37 |
- | - | |
FOCAD | - | - |
GRCh38 GRCh37 |
- | - | |
HACD4 | - | - |
GRCh38 GRCh37 |
- | - | |
IFNA1 | - | - |
GRCh38 GRCh37 |
- | - | |
IFNA10 | - | - |
GRCh38 GRCh37 |
- | - | |
IFNA13 | - | - |
GRCh38 GRCh37 |
- | - |
There are 15 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000448195.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024