ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)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 | |||
DMRT1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 288 | |
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 | |
AK3 | - | - |
GRCh38 GRCh37 |
14 | 187 | |
BNC2 | - | - |
GRCh38 GRCh37 |
115 | 272 | |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
66 | 164 |
CD274 | - | - |
GRCh38 GRCh37 |
8 | 167 | |
CDC37L1 | - | - |
GRCh38 GRCh37 |
12 | 185 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001263225.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022