rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
BEFREE |
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 |
rs56984562
|
|
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 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
rs56984562
|
|
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 |
rs56984562
|
|
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 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Laminopathies in Russian families.
|
18564364 |
2008 |
rs56984562
|
|
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 |
rs56984562
|
|
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 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
|
15140538 |
2004 |
rs56984562
|
|
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 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
|
14675861 |
2003 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
|
12628721 |
2003 |
rs56984562
|
|
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 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
|
12920062 |
2003 |
rs56984562
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
|
11897440 |
2002 |