|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
|
26187847 |
2015 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.
|
23727233 |
2013 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
|
21835320 |
2011 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.
|
21723297 |
2011 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.
|
20855589 |
2010 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics.
|
18929571 |
2009 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.
|
14594949 |
2004 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
|
11102452 |
2001 |
|
rs104894369
|
|
Hypertrophic Cardiomyopathy
|
T |
0.740 |
CausalMutation
|
CLINVAR |
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
|
9535554 |
1998 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
|
26497160 |
2016 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Genetic basis of end-stage hypertrophic cardiomyopathy.
|
21896538 |
2011 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.
|
17606808 |
2007 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.
|
16751284 |
2006 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
|
16076902 |
2005 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.
|
12668451 |
2003 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
|
11102452 |
2001 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.
|
10948063 |
2000 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains.
|
9724616 |
1998 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
|
8673105 |
1996 |
|
rs104894368
|
|
Hypertrophic Cardiomyopathy
|
T |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|