ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3
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 |
1216 | 1365 | |
DMRT1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 288 | |
ELAVL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 91 | |
MTAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
160 | 246 | |
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
151 | 253 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
121 | 310 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
828 | 973 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
780 | 1115 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1136 | 1309 | |
ABHD17B | - | - |
GRCh38 GRCh37 |
5 | 49 |
There are 1205 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) |
|
Aug 20, 2012 | RCV000143012.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023