ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_129376729)_(131016993_?)del
Germline
Classification
(2)
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 |
1101 | 1611 | |
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
591 | 632 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1079 | 1174 | |
AK1 | - | - |
GRCh38 GRCh37 |
- | 103 | |
ANGPTL2 | - | - |
GRCh38 GRCh37 |
- | 65 | |
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 39 |
CDK9 | - | - |
GRCh38 GRCh37 |
23 | 61 | |
CFAP157 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
CIZ1 | - | - |
GRCh38 GRCh37 |
339 | 434 | |
DNM1 | - | - |
GRCh38 GRCh37 |
618 | 907 |
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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
Apr 15, 2023 | RCV001364955.4 | |
Pathogenic (1) |
|
May 20, 2020 | RCV001383155.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024