Gene: LMNA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59270054
rs59270054
LMNA
A 0.720 CausalMutation CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465

2010
dbSNP: rs59270054
rs59270054
LMNA
A 0.720 CausalMutation CLINVAR LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901

2010
dbSNP: rs59270054
rs59270054
LMNA
A 0.720 CausalMutation CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714

2010
dbSNP: rs59270054
rs59270054
LMNA
A 0.720 CausalMutation CLINVAR [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells]. 17386158

2007
dbSNP: rs59270054
rs59270054
LMNA
A 0.720 CausalMutation CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578

2006
dbSNP: rs59270054
rs59270054
LMNA
A 0.720 CausalMutation CLINVAR [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 16266469

2005
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 29382405

2018
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. 28790152

2017
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. 27886618

2017
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. 26383716

2015
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation. 23142632

2013
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
dbSNP: rs60682848
rs60682848
LMNA
T 0.710 CausalMutation CLINVAR Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. 21315846

2011
dbSNP: rs60682848
rs60682848
LMNA
T 0.710 CausalMutation CLINVAR Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 19882644

2010
dbSNP: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404

2009
dbSNP: rs60682848
rs60682848
LMNA
T 0.710 CausalMutation CLINVAR Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. 19638735

2009
dbSNP: rs28933091
rs28933091
LMNA
G 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: rs59301204
rs59301204
LMNA
A 0.710 CausalMutation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007
dbSNP: rs60682848
rs60682848
LMNA
T 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
LMNA
G 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
LMNA
G 0.710 CausalMutation CLINVAR Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 11792810

2001
dbSNP: rs28933091
rs28933091
LMNA
G 0.710 CausalMutation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001
dbSNP: rs60682848
rs60682848
LMNA
T 0.710 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001
dbSNP: rs28933091
rs28933091
LMNA
G 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: rs794728591
rs794728591
LMNA
T 0.700 GeneticVariation CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882

2018