rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
|
24704860 |
2014 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
|
24704860 |
2014 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
7883988 |
1995 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
7883988 |
1995 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients.
|
9140824 |
1997 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.
|
8533830 |
1995 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.
|
8533830 |
1995 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.
|
8533830 |
1995 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
|
8483915 |
1993 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
|
8483915 |
1993 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
|
22112859 |
2012 |
rs121913632
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
|
22112859 |
2012 |