ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
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 | |||
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1056 | 1147 | |
CFAP157 | - | - | - |
GRCh38 GRCh37 |
- | 98 |
NIBAN2 | - | - |
GRCh38 GRCh37 |
59 | 98 | |
PTRH1 | - | - | - |
GRCh38 GRCh37 |
- | 100 |
SH2D3C | - | - |
GRCh38 GRCh37 |
57 | 96 | |
TOR2A | - | - |
GRCh38 GRCh37 |
28 | 68 | |
TTC16 | - | - | - |
GRCh38 GRCh37 |
73 | 113 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767646.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023