ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_44519965)_(44751017_?)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 | |||
CD40 | - | - |
GRCh38 GRCh37 |
237 | 272 | |
CTSA | - | - |
GRCh38 GRCh37 |
522 | 559 | |
MMP9 | - | - |
GRCh38 GRCh37 |
258 | 361 | |
NCOA5 | - | - |
GRCh38 GRCh37 |
38 | 48 | |
PCIF1 | - | - |
GRCh38 GRCh37 |
39 | 51 | |
PLTP | - | - |
GRCh38 GRCh37 |
130 | 142 | |
SLC12A5 | - | - |
GRCh38 GRCh37 |
850 | 891 | |
ZNF335 | - | - |
GRCh38 GRCh37 |
570 | 582 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 12, 2024 | RCV004579405.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024