ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_79792621)_(80944002_?)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 | |||
CEP78 | - | - |
GRCh38 GRCh37 |
562 | 604 | |
GNA14 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
GNAQ | - | - |
GRCh38 GRCh37 |
53 | 94 | |
PSAT1 | - | - |
GRCh38 GRCh37 |
487 | 528 | |
VPS13A | - | - |
GRCh38 GRCh37 |
3164 | 3245 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 22, 2022 | RCV001953529.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024