ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_139265559)_(139333126_?)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 | |||
CARD9 | - | - |
GRCh38 GRCh37 |
514 | 609 | |
ENTR1 | - | - |
GRCh38 GRCh37 |
43 | 136 | |
INPP5E | - | - |
GRCh38 GRCh37 |
815 | 906 | |
PMPCA | - | - |
GRCh38 GRCh37 |
142 | 274 | |
SNAPC4 | - | - |
GRCh38 GRCh37 |
175 | 265 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 8, 2022 | RCV004581895.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024