ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4
Germline
Classification
(1)
Likely 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 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 297 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 331 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
821 | 1164 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1188 | 1362 | |
AK3 | - | - |
GRCh38 GRCh37 |
25 | 198 | |
BRD10 | - | - | - |
GRCh38 GRCh37 |
182 | 346 |
CD274 | - | - |
GRCh38 GRCh37 |
10 | 169 | |
CDC37L1 | - | - |
GRCh38 GRCh37 |
20 | 193 | |
DMRT3 | - | - |
GRCh38 GRCh37 |
55 | 248 | |
DOCK8 | - | - |
GRCh38 GRCh37 |
2408 | 3008 |
There are 21 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 26, 2022 | RCV002472665.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024