ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
MPDZ | - | - |
GRCh38 GRCh37 |
1650 | 1772 | |
NFIB | - | - |
GRCh38 GRCh37 |
112 | 238 | |
ZDHHC21 | - | - |
GRCh38 GRCh37 |
10 | 123 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 22, 2018 | RCV000681559.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023