ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3
Germline
Classification
(1)
not provided
no classification 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 | |||
HAO1 | - | - |
GRCh38 GRCh37 |
32 | 84 | |
PLCB1 | - | - |
GRCh38 GRCh37 |
1112 | 1181 | |
TMX4 | - | - |
GRCh38 GRCh37 |
13 | 66 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000509139.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022