ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CCN2 | - | - |
GRCh38 GRCh37 |
- | 50 | |
CTAGE9 | - | - | - |
GRCh38 GRCh37 |
- | 83 |
ENPP1 | - | - |
GRCh38 GRCh37 |
685 | 709 | |
ENPP3 | - | - |
GRCh38 GRCh37 |
54 | 151 | |
OR2A4 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2021 | RCV001834442.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022