Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933093
rs28933093
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012

dbSNP: rs28933093
rs28933093
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 CausalMutation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008

dbSNP: rs28933093
rs28933093
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062

2003

dbSNP: rs28933093
rs28933093
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 CausalMutation CLINVAR Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062

2003

dbSNP: rs28933093
rs28933093
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 GeneticVariation UNIPROT Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062

2003