ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)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 | |||
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
901 | 1051 | |
BNC2 | - | - |
GRCh38 GRCh37 |
134 | 299 | |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
114 | 212 |
CER1 | - | - |
GRCh38 GRCh37 |
19 | 126 | |
NFIB | - | - |
GRCh38 GRCh37 |
132 | 264 | |
PSIP1 | - | - |
GRCh38 GRCh37 |
23 | 131 | |
SNAPC3 | - | - |
GRCh38 GRCh37 |
28 | 137 | |
TTC39B | - | - |
GRCh38 GRCh37 |
68 | 173 | |
ZDHHC21 | - | - |
GRCh38 GRCh37 |
12 | 126 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001263226.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022