Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852917
rs137852917
EPM2A
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		T 0.810 CausalMutation CLINVAR

dbSNP: rs104893955
rs104893955
EPM2A ; LOC100507557
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137852915
rs137852915
EPM2A
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104893950
rs104893950
EPM2A
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		A 0.720 CausalMutation CLINVAR Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. 12019207

2002
dbSNP: rs104893950
rs104893950
EPM2A
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		A 0.720 CausalMutation CLINVAR In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients. 11175283

2000
dbSNP: rs104893950
rs104893950
EPM2A
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR Late onset Lafora disease and novel EPM2A mutations: breaking paradigms. 25246353

2014
dbSNP: rs104893950
rs104893950
EPM2A
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR Lafora disease: a case report, pathologic and genetic study. 21623095

2011
dbSNP: rs104893950
rs104893950
EPM2A
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 9771710

1998
dbSNP: rs1554263366
rs1554263366
EPM2A
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs587776553
rs587776553
EPM2A
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs587776554
rs587776554
EPM2A
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs781291421
rs781291421
EPM2A
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		T 0.700 CausalMutation CLINVAR Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920

2004