ClinVar Genomic variation as it relates to human health
NM_014862.4(ARNT2):c.784dup (p.Arg262fs)
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 | |||
ARNT2 | - | - |
GRCh38 GRCh37 |
188 | 216 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ARNT2-related disorder
|
Uncertain significance (1) |
|
May 8, 2024 | RCV004758447.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024