ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1
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 | |||
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
591 | 632 | |
NR5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
264 | 296 | |
ADGRD2 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
ANGPTL2 | - | - |
GRCh38 GRCh37 |
- | 65 | |
ARPC5L | - | - | - |
GRCh38 GRCh37 |
5 | 33 |
CRB2 | - | - |
GRCh38 GRCh37 |
672 | 705 | |
DAB2IP | - | - |
GRCh38 GRCh37 |
97 | 127 | |
DENND1A | - | - |
GRCh38 GRCh37 |
63 | 96 | |
GAPVD1 | - | - |
GRCh38 GRCh37 |
55 | 81 | |
GOLGA1 | - | - |
GRCh38 GRCh37 |
46 | 73 |
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) |
|
Jun 7, 2022 | RCV002474540.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023