ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)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 | |||
NR5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
252 | 284 | |
ASTN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 933 | |
ADGRD2 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
BRINP1 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
C5 | - | - |
GRCh38 GRCh37 |
674 | 712 | |
CDK5RAP2 | - | - |
GRCh38 GRCh37 |
809 | 834 | |
CNTRL | - | - |
GRCh38 GRCh37 |
136 | 164 | |
CRB2 | - | - |
GRCh38 GRCh37 |
645 | 678 | |
DAB2IP | - | - |
GRCh38 GRCh37 |
81 | 111 | |
DENND1A | - | - |
GRCh38 GRCh37 |
53 | 86 |
There are 41 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) |
|
Mar 1, 2021 | RCV001834516.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023