ClinVar Genomic variation as it relates to human health
NM_003344.4(UBE2H):c.336A>G (p.Leu112=)
Germline
Classification
(1)
Benign
criteria provided, single submitter
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 | |||
LOC126860174 | - | - | - | GRCh38 | - | 11 |
UBE2H | - | - |
GRCh38 GRCh37 |
5 | 32 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
UBE2H-related disorder
|
Benign (1) |
|
Mar 6, 2019 | RCV003978952.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024