ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)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 |
1241 | 1392 | |
DMRT1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 293 | |
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 | |
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 256 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
133 | 322 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
860 | 1007 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
797 | 1134 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1148 | 1321 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 |
There are 890 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 9, 2012 | RCV000139126.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024