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Gene entry

MYBPC3

myosin binding protein C3

Chromosome
11
Cytoband
11p11.2
Variants (rsID)
364

MYBPC3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p11.2). Its official name is “myosin binding protein C3”. The reference table lists 364 variants (rsID) for this gene.

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Clinically classified variants

352 reference-table entries with clinical significance (first 200 shown).

  • rs11570052Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Long QT syndrome|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10
  • rs11570076Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 1
  • rs11570112Benignsingle nucleotide variantPrimary dilated cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy
  • rs190765116Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Long QT syndrome|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs200162906Benignsingle nucleotide variantCardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs200713257Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs201012766Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10
  • rs3218719Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs35078470Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Primary familial dilated cardiomyopathy|Left ventricular noncompaction 10
  • rs35690719Benignsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs370530334Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs370945942Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs370962887Benignsingle nucleotide variantHypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10
  • rs3729799Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs3729936Benignsingle nucleotide variantLeft ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy
  • rs3729952Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Primary familial dilated cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs3729953Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs3729986Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs3729989Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs377520770Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs397515932Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs61729664Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Cardiomyopathy|Long QT syndrome|Hypertrophic cardiomyopathy
  • rs748128261BenignDuplicationHypertrophic cardiomyopathy|Cardiomyopathy
  • rs1057521823Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs1064793891Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs11570077Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy
  • rs138753870Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10
  • rs150291001Conflicting interpretationssingle nucleotide variantDilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs181834806Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs187705120Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs193068692Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1A|Left ventricular noncompaction 10|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs193922385Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs199669878Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Cardiomyopathy|Primary dilated cardiomyopathy
  • rs199728019Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4
  • rs199741162Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs199865688Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Paroxysmal atrial fibrillation|Primary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs200224422Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10
  • rs200352299Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs200372325Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4
  • rs200663253Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs201098973Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4
  • rs201278114Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Left ventricular hypertrophy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs201312636Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy|MYBPC3-Related Disorders
  • rs202139499Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10
  • rs35736435Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Amyloidogenic transthyretin amyloidosis|Hypertrophic cardiomyopathy
  • rs36211723Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Conduction disorder of the heart|Left ventricular noncompaction 10|Primary familial hypertrophic cardiomyopathy
  • rs36212064Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs36212066Conflicting interpretationsDeletionLeft ventricular noncompaction 10|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs368121566Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs368192024Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs369904619Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs370338674Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Cardiomyopathy
  • rs370412052Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy
  • rs371488302Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs371513491Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiovascular phenotype|Cardiomyopathy
  • rs372502369Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs373012629Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy|Dilated Cardiomyopathy, Dominant|Cardiomyopathy
  • rs373164247Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs373946195Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs374673836Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs375347534Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs375467797Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs375471260Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs375675796Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs375882485Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy 4|MYBPC3-Related Disorders|Cardiomyopathy|Left ventricular noncompaction 10|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4
  • rs376041792Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10
  • rs376083315Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs376504548Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs377579620Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Cardiomyopathy
  • rs397515893Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs397515918Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397515929Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs397515945Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs397515949Conflicting interpretationsMicrosatelliteHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397515950Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs397515964Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516009Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516018Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs397516039Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516043Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516045Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516054Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Left ventricular noncompaction 10|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs397516063Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiomyopathy|See cases
  • rs398123280Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs564378953Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs61897383Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction 10|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs727503167Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Cardiomyopathy
  • rs727503188Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10
  • rs727503191Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs727504235Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs727504287Conflicting interpretationsMicrosatelliteHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 1|See cases
  • rs727504288Conflicting interpretationsMicrosatellitePrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs727504887Conflicting interpretationssingle nucleotide variant
  • rs727504945Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs727505267Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs730880551Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction cardiomyopathy
  • rs730880553Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy
  • rs730880592Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880619Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4
  • rs730880623Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1A|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs730880624Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|Left ventricular noncompaction cardiomyopathy
  • rs730880674Conflicting interpretationsMicrosatellitePrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs730880690Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880691Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs750425291Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs756512665Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs770030288Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs11570075Likely benignsingle nucleotide variant
  • rs193922382Likely benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs397515904Likely benignsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs397516036Likely benignsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs1057517766Likely pathogenicDeletion
  • rs1057518030Likely pathogenicDeletion
  • rs1060499604Likely pathogenicsingle nucleotide variantLeft ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs1064794471Likely pathogenicDeletion
  • rs11570045Likely pathogenicsingle nucleotide variant
  • rs1409755826Likely pathogenicsingle nucleotide variant
  • rs367990952Likely pathogenicsingle nucleotide variant
  • rs397515972Likely pathogenicDeletionHypertrophic cardiomyopathy
  • rs397516040Likely pathogenicMicrosatelliteHypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs587782957Likely pathogenicDeletionPrimary familial hypertrophic cardiomyopathy
  • rs727503170Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs727503219Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs727504279Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880143Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy
  • rs730880557Likely pathogenicsingle nucleotide variant
  • rs730880560Likely pathogenicsingle nucleotide variant
  • rs730880580Likely pathogenicsingle nucleotide variant
  • rs730880581Likely pathogenicsingle nucleotide variant
  • rs730880590Likely pathogenicsingle nucleotide variant
  • rs730880593Likely pathogenicsingle nucleotide variant
  • rs730880622Likely pathogenicsingle nucleotide variant
  • rs730880632Likely pathogenicsingle nucleotide variant
  • rs730880668Likely pathogenicDeletion
  • rs730880694Likely pathogenicsingle nucleotide variant
  • rs730880695Likely pathogenicsingle nucleotide variant
  • rs730880702Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs786204362Likely pathogenicDeletion
  • rs786205470Likely pathogenicsingle nucleotide variant
  • rs863224899Likely pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Hypertrophic cardiomyopathy 4
  • rs863225105Likely pathogenicDeletionHypertrophic cardiomyopathy 4
  • rs863225109Likely pathogenicDeletionHypertrophic cardiomyopathy 4
  • rs863225111Likely pathogenicDuplicationHypertrophic cardiomyopathy 4
  • rs869025459Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy
  • rs869025460Likely pathogenicDeletionPrimary familial hypertrophic cardiomyopathy
  • rs869025464Likely pathogenicDeletionPrimary familial hypertrophic cardiomyopathy
  • rs869025466Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy
  • rs869025467Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy
  • rs869025468Likely pathogenicDuplicationPrimary familial hypertrophic cardiomyopathy
  • rs869025470Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy
  • rs876661363Likely pathogenicDeletion
  • rs876661365Likely pathogenicDuplication
  • rs876661368Likely pathogenicsingle nucleotide variant
  • rs1057517920Pathogenicsingle nucleotide variant
  • rs1060501478PathogenicDeletionHypertrophic cardiomyopathy
  • rs1060501480PathogenicDeletionHypertrophic cardiomyopathy
  • rs1060501481PathogenicInsertionHypertrophic cardiomyopathy
  • rs1060501484PathogenicDeletionHypertrophic cardiomyopathy|Cardiomyopathy
  • rs1064793202PathogenicInsertionHypertrophic cardiomyopathy
  • rs1064793642PathogenicDeletion
  • rs1064794209Pathogenicsingle nucleotide variant
  • rs1064796231PathogenicDeletionHypertrophic cardiomyopathy
  • rs111437311Pathogenicsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs111729952Pathogenicsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy
  • rs112179534Pathogenicsingle nucleotide variant
  • rs121909374Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 4|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Primary familial dilated cardiomyopathy|Cardiomyopathy
  • rs1298025872Pathogenicsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs1432810664Pathogenicsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs1444727212Pathogenicsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs190228518Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs193922383Pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs193922384PathogenicDuplicationHypertrophic cardiomyopathy 4|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs201078659Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs2856655Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs367947846Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs368765949Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy
  • rs373746463Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy
  • rs373792537Pathogenicsingle nucleotide variant
  • rs375607980Pathogenicsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs376395543Pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiovascular phenotype|Intellectual disability|Cardiomyopathy|MYBPC3-Related Disorders|Left ventricular noncompaction 10
  • rs387906397Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 4|Inborn genetic diseases|Hypertrophic cardiomyopathy|Cardiomyopathy|MYBPC3-Related Disorders
  • rs397514752Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 4
  • rs397515894PathogenicDeletionHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs397515895Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs397515896PathogenicDeletionHypertrophic cardiomyopathy
  • rs397515920Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs397515925PathogenicDeletionHypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Cardiomyopathy|Hypertrophic cardiomyopathy 4|Primary familial hypertrophic cardiomyopathy
  • rs397515931PathogenicDeletionHypertrophic cardiomyopathy
  • rs397515933PathogenicDeletionHypertrophic cardiomyopathy
  • rs397515944PathogenicDuplicationHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397515948PathogenicDuplicationHypertrophic cardiomyopathy
  • rs397515966PathogenicDuplicationPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs397515970PathogenicDuplicationHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs397515987PathogenicDeletionHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4
  • rs397515990PathogenicDeletionHypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs397515992Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiomyopathy
  • rs397515995PathogenicDeletionHypertrophic cardiomyopathy
  • rs397516001PathogenicDuplicationHypertrophic cardiomyopathy
  • rs397516005Pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516006Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiomyopathy

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.