|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
|
23782526 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.
|
18337725 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.
|
29524613 |
2018 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding cardiac MyBP-C (MYBPC3) in humans is located on chromosome 11p11.2, and mutations have been identified in this gene in unrelated families with familial hypertrophic cardiomyopathy (FHC).
|
9048664 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
|
19808356 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
|
25351510 |
2015 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
|
22112859 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PKA treatment increased phosphorylation of PKA-targets in HCM myocardium and normalized length-dependent activation to donor values in sarcomere mutation-negative HCM and HCM with truncating MYBPC3 mutations but not in HCM with missense mutations.
|
23508784 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
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 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a myosin binding protein C3 mutation, which is reportedly responsible for familial hypertrophic cardiomyopathy.
|
22560514 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
|
19574547 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition to these mutations a 25-bp deletion in intron 32 of MYBPC3 was identified in family MM (five carriers) and in a fourth family (MiR, one HCM patient, three deletion carriers).
|
12788380 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.
|
21817903 |
2011 |