MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Familial Hypertrophic Cardiomyopathy Type 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. 27650965 2016
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 25335496 2015
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. 25210889 2014
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362 2013
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation 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
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. 20530761 2010
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR A novel custom resequencing array for dilated cardiomyopathy. 20474083 2010
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854 2010
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 GeneticVariation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
dbSNP: rs397516050
rs397516050
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.700 CausalMutation CLINVAR