ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)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 |
1235 | 1386 | |
ELAVL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
20 | 95 | |
MTAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
163 | 249 | |
C9orf72 | - | - |
GRCh38 GRCh37 |
95 | 177 | |
CAAP1 | - | - | - |
GRCh38 GRCh37 |
25 | 100 |
CDKN2A-AS1 | - | - | - | GRCh38 | 1 | 40 |
CDKN2B | - | - |
GRCh38 GRCh37 |
- | 128 | |
CDKN2B-AS1 | - | - |
GRCh38 GRCh37 |
4 | 135 | |
DMRTA1 | - | - |
GRCh38 GRCh37 |
42 | 124 | |
EQTN | - | - |
GRCh38 GRCh37 |
20 | 99 |
There are 128 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 23, 2012 | RCV000139905.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024