ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:132449937-132807448)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 40 | |
FNBP1 | - | - |
GRCh38 GRCh37 |
32 | 75 | |
PRRX2 | - | - |
GRCh38 GRCh37 |
25 | 67 | |
PTGES | - | - |
GRCh38 GRCh37 |
14 | 55 | |
TOR1A | - | - |
GRCh38 GRCh37 |
185 | 245 | |
TOR1B | - | - |
GRCh38 GRCh37 |
17 | 60 | |
USP20 | - | - |
GRCh38 GRCh37 |
67 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 10, 2022 | RCV002473597.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022