Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033560
rs111033560
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362

2014

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects. 24058181

2014

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. 24001739

2014

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938

2011

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404

2010

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. 17987279

2008

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. 16715312

2007

dbSNP: rs28933091
rs28933091
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs28933091
rs28933091
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

dbSNP: rs28933091
rs28933091
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. 15972724

2005

dbSNP: rs28933091
rs28933091
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2002

dbSNP: rs28933091
rs28933091
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 11792810

2002

dbSNP: rs28933091
rs28933091
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070

1999

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484

2013

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724

2012

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome. 22277643

2012

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 21167004

2011

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231

2011

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2010

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009

2010

dbSNP: rs45546039
rs45546039
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2010

dbSNP: rs58013325
rs58013325
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 GeneticVariation CLINVAR Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1. 16156025

2005

dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 CausalMutation CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465

2013