ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591)
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 |
76 | 293 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
133 | 322 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
797 | 1133 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1148 | 1321 | |
DMRT3 | - | - |
GRCh38 GRCh37 |
51 | 243 | |
DOCK8 | - | - |
GRCh38 GRCh37 |
2371 | 2959 | |
DOCK8-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 402 |
KCNV2 | - | - |
GRCh38 GRCh37 |
725 | 912 | |
PUM3 | - | - |
GRCh38 GRCh37 |
56 | 242 | |
RFX3 | - | - |
GRCh38 GRCh37 |
61 | 234 |
There is 1 more gene 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) |
|
Mar 1, 2022 | RCV002053806.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022