|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
|
25031304 |
2014 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
|
24865491 |
2014 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
|
23782526 |
2013 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.
|
23527136 |
2013 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.
|
23980194 |
2013 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
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 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.
|
22563033 |
2012 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
|
22907696 |
2012 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.
|
20173211 |
2010 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
|
20414521 |
2010 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.
|
20159828 |
2010 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
|
19808356 |
2009 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice.
|
19590044 |
2009 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
|
19574547 |
2009 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.
|
20031602 |
2009 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.
|
18374358 |
2008 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
|
18957093 |
2008 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Contribution of inherited heart disease to sudden cardiac death in childhood.
|
17908752 |
2007 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
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 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
|
rs397516074
|
|
Hypertrophic Cardiomyopathy
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.
|
15769446 |
2005 |