ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_95007241)_(95237179_?)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 | |||
CENPP | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
19 | 173 | |
ASPN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 60 | |
IARS1 | - | - |
GRCh38 GRCh38 GRCh37 |
351 | 391 | |
NOL8 | - | - |
GRCh38 GRCh38 GRCh37 |
63 | 108 | |
OGN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 58 | |
OMD | - | - |
GRCh38 GRCh38 GRCh37 |
- | 68 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 11, 2023 | RCV001387104.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024