rs397515970
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730880649
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs863225271
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs863225272
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Local mechanical oscillations of the cell surface within the range 0.2-30 Hz.
|
2073894 |
1990 |
rs121909374
|
|
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
|
|
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 |
rs397515963
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
|
9562578 |
1998 |
rs397515992
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
|
9541104 |
1998 |
rs121909374
|
|
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 |
rs397515963
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.
|
10736283 |
2000 |
rs397515963
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
|
11499718 |
2001 |
rs397515963
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
|
11499719 |
2001 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.
|
12117842 |
2002 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs375882485
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs397515963
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
|
14563344 |
2003 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
rs375882485
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
rs397515992
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
rs121909374
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs375882485
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121909374
|
|
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
|
|
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
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |