Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 GeneticVariation CLINVAR A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. 21085127

2011

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 CausalMutation CLINVAR Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 19167105

2010

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 GeneticVariation CLINVAR Laminopathies in Russian families. 18564364

2008

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 CausalMutation CLINVAR Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. 18031519

2008

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 GeneticVariation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 GeneticVariation CLINVAR We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S). 16061563

2005

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 GeneticVariation CLINVAR Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542

2004

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
T 0.810 CausalMutation CLINVAR Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861

2003

dbSNP: rs56984562
rs56984562
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
G 0.810 CausalMutation CLINVAR

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Systematic identification of pathological lamin A interactors. 24623722

2014

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
A 0.700 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle. 22186027

2012

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012

dbSNP: rs56984562
rs56984562
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 CausalMutation CLINVAR Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 19167105

2010

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
A 0.700 GeneticVariation CLINVAR Laminopathies in Russian families. 18564364

2008

dbSNP: rs56984562
rs56984562
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 CausalMutation CLINVAR Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. 18031519

2008

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. 18031519

2008

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
A 0.700 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
A 0.700 GeneticVariation CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190

2005

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
A 0.700 GeneticVariation CLINVAR In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563

2005

dbSNP: rs56984562
rs56984562
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]. 15724423

2005

dbSNP: rs56984562
rs56984562
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 CausalMutation CLINVAR Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542

2004