ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:130412438-131423964)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 |
1082 | 1584 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1055 | 1146 | |
AK1 | - | - |
GRCh38 GRCh37 |
- | 100 | |
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 36 |
CDK9 | - | - |
GRCh38 GRCh37 |
20 | 56 | |
CERCAM | - | - |
GRCh38 GRCh37 |
47 | 89 | |
CFAP157 | - | - | - |
GRCh38 GRCh37 |
- | 98 |
CIZ1 | - | - |
GRCh38 GRCh37 |
336 | 428 | |
COQ4 | - | - |
GRCh38 GRCh37 |
267 | 326 | |
DNM1 | - | - |
GRCh38 GRCh37 |
605 | 891 |
There are 25 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 20, 2018 | RCV001265154.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 04, 2023