ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)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 |
76 | 293 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
133 | 322 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
859 | 1006 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
797 | 1133 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1143 | 1316 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 | |
ADAMTSL1 | - | - |
GRCh38 GRCh37 |
160 | 260 | |
AK3 | - | - |
GRCh38 GRCh37 |
21 | 194 | |
BNC2 | - | - |
GRCh38 GRCh37 |
122 | 284 | |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
97 | 195 |
There are 51 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) |
|
Jan 20, 2016 | RCV000240225.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022