rs863225097
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs727504240
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.
|
19666645 |
2009 |
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.
|
20646679 |
2010 |
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
15856146 |
2005 |
rs727504238
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.
|
18383048 |
2008 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.
|
21839045 |
2012 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.
|
22455086 |
2012 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
|
23711808 |
2013 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.
|
25086479 |
2015 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
rs727503278
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
|
12820698 |
2003 |
rs727503261
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
|
25935763 |
2015 |
rs727503261
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].
|
17125710 |
2006 |
rs727503261
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs727503261
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs727503261
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
[Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype].
|
16630449 |
2006 |