|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
|
28265379 |
2017 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
|
26090888 |
2015 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
|
25856671 |
2015 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
|
23711808 |
2013 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
|
23840593 |
2013 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
|
21511876 |
2011 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
|
20045868 |
2010 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
|
18929575 |
2008 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
|
18929575 |
2008 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
|
18957093 |
2008 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years.
|
17560888 |
2007 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |