MYBPC3 Chromosome 11

Myosin binding protein C3
1139 variants 1139 Health Risk

Upload your DNA to see your personal genotypes for variants in MYBPC3.

What This Gene Does
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]
Gene Info
Gene Group
"I-set domain containing|Myosin binding proteins"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000134571
Associated Conditions (39)
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Cardiomyopathy
MYBPC3-related disorder
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1A
Wolff-Parkinson-White pattern
Primary dilated cardiomyopathy
Paroxysmal atrial fibrillation
dilated
1MM
See cases
Amyloidosis
hereditary systemic 1
Cardiac arrest
Hypertrophic cardiomyopathy 1
Brugada syndrome
+19 more conditions
Key Variants
RS1003833483
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4
Health Risk
RS1041197781
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Health Risk
RS1042129854
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1057517769
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1057520329
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1057520977
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1057521823
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1060501483
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1064793891
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS113182334
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS11570060
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
Health Risk
RS11570077
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
All Variants (1139)
RSID Category Clinical Significance Conditions
RS397516079 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy
RS398123280 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS531228202 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS532498780 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS534282225 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS535853707 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS542350927 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS543376073 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy, Cardiomyopathy
RS545675333 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS549239819 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS549758428 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS551888783 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS569740494 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS570058149 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS571457875 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS573916965 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS61897383 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503167 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727503171 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
RS727503177 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727503181 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503188 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS727503189 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS727503191 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503194 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS727503196 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy
RS727503202 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS727503205 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503207 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS727503216 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS727504259 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727504288 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS727504396 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Cardiomyopathy
RS727504887 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727504945 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS727505267 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880526 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS730880530 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS730880535 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS730880551 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880552 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880553 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS730880560 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS730880563 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880565 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS730880566 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880568 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880569 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS730880574 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS730880575 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
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