ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3
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 | |||
ENG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1082 | 1584 | |
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
578 | 619 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1055 | 1146 | |
AK1 | - | - |
GRCh38 GRCh37 |
- | 100 | |
ANGPTL2 | - | - |
GRCh38 GRCh37 |
- | 60 | |
ASB6 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 36 |
C9orf50 | - | - | - |
GRCh38 GRCh37 |
- | 40 |
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 40 | |
CDK9 | - | - |
GRCh38 GRCh37 |
20 | 56 |
There are 67 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) |
|
Apr 1, 2021 | RCV001832977.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023