ClinVar Miner

List of variants in gene EPM2A reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.