|
rs60682848
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
|
19882644 |
2010 |
|
rs60682848
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
|
11561226 |
2001 |
|
rs60682848
|
|
Cardiomyopathy, Dilated
|
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 |
|
rs60682848
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.
|
21315846 |
2011 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
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 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
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 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
|
23349452 |
2013 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
|
17377071 |
2007 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
|
29382405 |
2018 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy.
|
27886618 |
2017 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.
|
26383716 |
2015 |
|
rs59301204
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
|
19875404 |
2009 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.
|
20458009 |
2010 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
|
21596231 |
2011 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
|
19412328 |
2008 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
|
22710484 |
2012 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
|
21167004 |
2010 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.
|
22277643 |
2012 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
|
22999724 |
2012 |
|
rs45546039
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
|
22766342 |
2012 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
|
21459883 |
2011 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.
|
28737513 |
2017 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
|
22337857 |
2012 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
|
25008357 |
2014 |