Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012

dbSNP: rs59026483
rs59026483
0.710 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: rs59026483
rs59026483
0.710 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: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848

2008

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563

2005

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation BEFREE The mutations p.Q355X and p.S22L have not been reported before, whereas p.R190W has already been reported in other studied DCM cohorts. 15539782

2005

dbSNP: rs59026483
rs59026483
0.710 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: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508

2004

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. 15140538

2004

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861

2003

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 12628721

2003

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062

2003

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%). 11897440

2002

dbSNP: rs59026483
rs59026483
0.710 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: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001

dbSNP: rs59026483
rs59026483
0.710 GeneticVariation UNIPROT Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001

dbSNP: rs59026483
rs59026483
0.710 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