ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p21(chr2:42764825-43020914)x1
Germline
Classification
(1)
Likely benign
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 | |||
HAAO | - | - |
GRCh38 GRCh37 |
35 | 59 | |
MTA3 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
OXER1 | - | - |
GRCh38 GRCh37 |
37 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 11, 2016 | RCV000752924.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2023