Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190

2010

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 19167105

2010

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848

2008

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563

2005

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. 15140538

2004

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508

2004

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542

2004

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 12628721

2003

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062

2003

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861

2003

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. 12486434

2002

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 11897440

2002

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001

dbSNP: rs28933092
rs28933092
0.800 GeneticVariation UNIPROT Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070

1999

dbSNP: rs28933092
rs28933092
G 0.800 CausalMutation CLINVAR