×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
[One patient, one mutation and two cardiomyopathies - hypertrophic cardiomyopathy and left ventricular noncompaction].
22386539 2012
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
GeneticVariation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333 2011
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
GeneticVariation
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
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
GeneticVariation
CLINVAR
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
20433692 2010
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
19150014 2009
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
24510615 2014
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.
17937428 2007
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
12788380 2003
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
22057632 2012
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.
19273718 2009
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
23674513 2013
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
GeneticVariation
CLINVAR
Genetics of hypertrophic cardiomyopathy in Norway.
24111713 2014
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.
20298698 2010
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
GeneticVariation
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
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
22569109 2012
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
22555271 2012
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
18761664 2008
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
19151713 2009
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.
20031602 2009
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
The Gln1233ter mutation of the myosin binding protein C gene: causative mutation or innocent polymorphism in patients with hypertrophic cardiomyopathy?
21985754 2011
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
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
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
9562578 1998
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
21959974 2012
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.
25262865 2014
×
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
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