ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)
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 | |||
ENG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1082 | 1584 | |
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
580 | 621 | |
NR5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
253 | 285 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1056 | 1147 | |
ASTN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 933 | |
ADGRD2 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
AK1 | - | - |
GRCh38 GRCh37 |
- | 100 | |
AKNA | - | - |
GRCh38 GRCh37 |
121 | 172 | |
AMBP | - | - |
GRCh38 GRCh37 |
34 | 70 | |
ANGPTL2 | - | - |
GRCh38 GRCh37 |
- | 60 |
There are 133 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, 2022 | RCV002052831.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023