rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy.
|
28246639 |
2017 |
rs121913632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.
|
29101517 |
2017 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
|
24865491 |
2014 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
rs121913632
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
|
23074333 |
2012 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.
|
21216834 |
2011 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
|
19808356 |
2009 |
rs121913632
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
rs121913632
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
rs121913632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
15856146 |
2005 |
rs121913632
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs121913632
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs121913632
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
15856146 |
2005 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913632
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913632
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913632
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913632
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |