ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
Germline
Classification
(2)
Pathogenic/Likely 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 | |||
PPIP5K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 45 | |
CATSPER2 | - | - |
GRCh38 GRCh37 |
47 | 107 | |
CKMT1A | - | - |
GRCh38 GRCh37 |
6 | 33 | |
CKMT1B | - | - |
GRCh38 GRCh37 |
8 | 46 | |
PDIA3 | - | - |
GRCh38 GRCh37 |
36 | 55 | |
STRC | - | - |
GRCh38 GRCh37 |
235 | 283 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 3, 2019 | RCV001806220.1 | |
Pathogenic (1) |
|
Nov 1, 2019 | RCV001799522.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 23, 2023