Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111569862
rs111569862
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. 27884249

2016

dbSNP: rs111569862
rs111569862
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR A novel mutation in a large French-Canadian family with LGMD1B. 18714801

2008

dbSNP: rs1553265736
rs1553265736
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 GeneticVariation CLINVAR

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 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
T 0.700 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

2013

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 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
T 0.700 CausalMutation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404

2009

dbSNP: rs267607554
rs267607554
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 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
T 0.700 CausalMutation CLINVAR Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. 16715312

2006

dbSNP: rs267607573
rs267607573
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008

dbSNP: rs267607577
rs267607577
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607578
rs267607578
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269

2012

dbSNP: rs267607578
rs267607578
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190

2010

dbSNP: rs267607578
rs267607578
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008

dbSNP: rs267607578
rs267607578
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007

dbSNP: rs267607581
rs267607581
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017

dbSNP: rs267607581
rs267607581
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs267607581
rs267607581
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR A novel mutation in a large French-Canadian family with LGMD1B. 18714801

2008

dbSNP: rs267607581
rs267607581
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR An alternative splicing product of the lamin A/C gene lacks exon 10. 8621584

1996

dbSNP: rs267607593
rs267607593
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 CausalMutation CLINVAR Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. 18337098

2008

dbSNP: rs267607593
rs267607593
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 CausalMutation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003

dbSNP: rs267607594
rs267607594
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 GeneticVariation CLINVAR A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. 18816602

2008

dbSNP: rs267607594
rs267607594
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 GeneticVariation CLINVAR Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 10662742

2000

dbSNP: rs267607618
rs267607618
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations. 23977161

2013

dbSNP: rs267607618
rs267607618
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404

2009