ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1
Germline
Classification
(1)
drug response
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 |
1236 | 1387 | |
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 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
860 | 1007 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 | |
ADAMTSL1 | - | - |
GRCh38 GRCh37 |
160 | 260 | |
BNC2 | - | - |
GRCh38 GRCh37 |
122 | 284 | |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
97 | 195 |
CDKN2B | - | - |
GRCh38 GRCh37 |
- | 128 | |
CDKN2B-AS1 | - | - |
GRCh38 GRCh37 |
4 | 135 |
There are 43 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 |
---|---|---|---|---|
drug response (1) |
|
Nov 27, 2017 | RCV000626433.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023