ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_130216807)_(130953136_?)del
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 |
1093 | 1597 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1066 | 1160 | |
AK1 | - | - |
GRCh38 GRCh37 |
- | 102 | |
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 39 |
CDK9 | - | - |
GRCh38 GRCh37 |
20 | 58 | |
CFAP157 | - | - | - |
GRCh38 GRCh37 |
- | 100 |
CIZ1 | - | - |
GRCh38 GRCh37 |
336 | 431 | |
DPM2 | - | - |
GRCh38 GRCh37 |
108 | 164 | |
EEIG1 | - | - |
GRCh38 GRCh37 |
28 | 68 | |
FPGS | - | - |
GRCh38 GRCh37 |
16 | 60 |
There are 14 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) |
|
Jul 4, 2021 | RCV001972646.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023