ClinVar Genomic variation as it relates to human health
NC_000012.12:g.(?_88516334)_(89591295_?)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 | |||
ATP2B1 | - | - |
GRCh38 GRCh37 |
88 | 99 | |
DUSP6 | - | - |
GRCh38 GRCh37 |
60 | 74 | |
GALNT4 | - | - |
GRCh38 GRCh37 |
- | 54 | |
KITLG | - | - |
GRCh38 GRCh37 |
99 | 111 | |
POC1B | - | - |
GRCh38 GRCh37 |
247 | 396 | |
POC1B-GALNT4 | - | - | - |
GRCh38 GRCh37 |
- | 94 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 17, 2022 | RCV001033711.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023