|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
|
25740977 |
2015 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
|
25342278 |
2014 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
|
23299917 |
2013 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
|
22765922 |
2012 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.
|
21839045 |
2012 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
|
21302287 |
2011 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
|
21239446 |
2011 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
|
20378854 |
2010 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
|
20433692 |
2010 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
|
16858239 |
2006 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes.
|
16831826 |
2006 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.
|
12117842 |
2002 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.
|
9631872 |
1998 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
|
9048664 |
1997 |
|
rs121909374
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Local mechanical oscillations of the cell surface within the range 0.2-30 Hz.
|
2073894 |
1990 |