ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
780 | 1115 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1136 | 1309 | |
DMRT3 | - | - |
GRCh38 GRCh37 |
41 | 233 | |
DOCK8 | - | - |
GRCh38 GRCh37 |
2361 | 2943 | |
DOCK8-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 396 |
KCNV2 | - | - |
GRCh38 GRCh37 |
720 | 906 | |
LINC01230 | - | - | - | GRCh38 | - | 91 |
LINC01231 | - | - | - | GRCh38 | - | 83 |
There are 59 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 12, 2011 | RCV000053705.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023