ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)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 | |||
ENG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1093 | 1597 | |
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
584 | 625 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1066 | 1160 | |
AK1 | - | - |
GRCh38 GRCh37 |
- | 102 | |
ANGPTL2 | - | - |
GRCh38 GRCh37 |
- | 60 | |
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 39 |
CDK9 | - | - |
GRCh38 GRCh37 |
20 | 58 | |
CERCAM | - | - |
GRCh38 GRCh37 |
47 | 92 | |
CFAP157 | - | - | - |
GRCh38 GRCh37 |
- | 100 |
CIZ1 | - | - |
GRCh38 GRCh37 |
336 | 431 |
There are 242 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 20, 2011 | RCV000137787.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024