|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
[One patient, one mutation and two cardiomyopathies - hypertrophic cardiomyopathy and left ventricular noncompaction].
|
22386539 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
|
20542340 |
2010 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
|
20433692 |
2010 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.
|
17937428 |
2007 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
|
12788380 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
|
22057632 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.
|
19273718 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
|
23674513 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.
|
20298698 |
2010 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
|
15114369 |
2004 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
|
22569109 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
|
18761664 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
|
19151713 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.
|
20031602 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The Gln1233ter mutation of the myosin binding protein C gene: causative mutation or innocent polymorphism in patients with hypertrophic cardiomyopathy?
|
21985754 |
2011 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
|
12628722 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
|
9562578 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
|
21959974 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.
|
25262865 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
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 |