|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
|
24375749 |
2014 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
|
23183350 |
2013 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
|
22177269 |
2012 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
18585512 |
2008 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
|
18646565 |
2007 |
|
rs28933093
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
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
|
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 |
GeneticVariation
|
CLINVAR |
Laminopathies in Russian families.
|
18564364 |
2008 |
|
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
|
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
|
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
|
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
|
G |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs267607570
|
|
Cardiomyopathy, Familial Idiopathic
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs28928900
|
|
Cardiomyopathy, Familial Idiopathic
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933090
|
|
Cardiomyopathy, Familial Idiopathic
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933091
|
|
Cardiomyopathy, Familial Idiopathic
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933092
|
|
Cardiomyopathy, Familial Idiopathic
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs60890628
|
|
Cardiomyopathy, Familial Idiopathic
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1057515421
|
|
Cardiomyopathy, Familial Idiopathic
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
|
27760138 |
2016 |