ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3
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 | |||
HAO1 | - | - |
GRCh38 GRCh37 |
37 | 90 | |
LINC01428 | - | - | - | GRCh38 | - | 16 |
LINC01706 | - | - | - | GRCh38 | - | 17 |
LINC01751 | - | - | - | GRCh38 | - | 16 |
LOC108178991 | - | - | - | GRCh38 | - | 16 |
LOC111365189 | - | - | - | GRCh38 | - | 16 |
LOC112694729 | - | - | - | GRCh38 | - | 18 |
LOC125384574 | - | - | - | GRCh38 | - | 18 |
LOC125384575 | - | - | - | GRCh38 | - | 17 |
LOC126862966 | - | - | - | GRCh38 | - | 18 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000050394.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024