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Gene entry

MYH7

myosin heavy chain 7

Chromosome
14
Cytoband
14q11.2
Variants (rsID)
327

MYH7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q11.2). Its official name is “myosin heavy chain 7”. The reference table lists 327 variants (rsID) for this gene.

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Clinically classified variants

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

  • rs121913653Benignsingle nucleotide variantMYH7-related skeletal myopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs139882431Benignsingle nucleotide variantDilated Cardiomyopathy, Dominant|MYH7-related skeletal myopathy|Myosin storage myopathy|Dilated cardiomyopathy 1S|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs145532615Benignsingle nucleotide variantIncreased left ventricular wall thickness|Hypertrophic cardiomyopathy|Inborn genetic diseases|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Myosin storage myopathy|Cardiomyopathy|Left ventricular noncompaction|Hypertrophic cardiomyopathy 1
  • rs150885220Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs186964570Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Myosin storage myopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|Left ventricular noncompaction cardiomyopathy|MYH7-related skeletal myopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs200444892Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs2069540Benignsingle nucleotide variantCardiovascular phenotype|MYH7-related skeletal myopathy|Myosin storage myopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|Cardiomyopathy|Hypertrophic cardiomyopathy 1|MYH7-related late-onset scapuloperoneal muscular dystrophy|Myopathy, myosin storage, autosomal recessive
  • rs2069541Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Myosin storage myopathy|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Left ventricular noncompaction cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs2231124Benignsingle nucleotide variantCardiovascular phenotype|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs2754155Benignsingle nucleotide variantMYH7-related skeletal myopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated Cardiomyopathy, Dominant|Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs368734580Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs3729823Benignsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Dilated cardiomyopathy 1S|Cardiomyopathy|Restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs45490796BenignDeletion
  • rs45497293Benignsingle nucleotide variantMyosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy
  • rs45561941Benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs45580436Benignsingle nucleotide variantHypertrophic cardiomyopathy
  • rs45582836Benignsingle nucleotide variantHypertrophic cardiomyopathy
  • rs45584435Benignsingle nucleotide variant
  • rs532401716Benignsingle nucleotide variantHypertrophic cardiomyopathy
  • rs1057517771Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs1057517773Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs1057524857Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs1060501432Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs1064793206Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs139506719Conflicting interpretationssingle nucleotide variantMYH7-related skeletal myopathy|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy|Myosin storage myopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Cardiomyopathy
  • rs145677314Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|Cardiomyopathy
  • rs146474860Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1S|Dilated Cardiomyopathy, Dominant|MYH7-related skeletal myopathy|Myosin storage myopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs147797612Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy|Myosin storage myopathy|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy 1
  • rs149193520Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs149840927Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs199577321Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy|Myosin storage myopathy
  • rs200303340Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Myosin storage myopathy|Dilated cardiomyopathy 1S|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy|Cardiomyopathy
  • rs200852418Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|MYH7-related skeletal myopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Myosin storage myopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs201860580Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs202141819Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs2069544Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy 1|Myosin storage myopathy
  • rs2754158Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs28933098Conflicting interpretationssingle nucleotide variantMyosin storage myopathy|MYH7-related late-onset scapuloperoneal muscular dystrophy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs367543052Conflicting interpretationsMicrosatelliteCongenital myopathy with fiber type disproportion|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs369490861Conflicting interpretationssingle nucleotide variantMyosin storage myopathy|Dilated Cardiomyopathy, Dominant|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs372381770Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs373514686Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy
  • rs376897125Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs397516121Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516135Conflicting interpretationssingle nucleotide variantFamilial cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|Myosin storage myopathy|MYH7-related skeletal myopathy
  • rs397516138Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs397516150Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516218Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516260Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs45442096Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs45496496Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Hypertrophic cardiomyopathy|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|Myosin storage myopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Cardiomyopathy
  • rs45516091Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|See cases|Dilated cardiomyopathy 1S
  • rs45523233Conflicting interpretationssingle nucleotide variantMYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Left ventricular noncompaction cardiomyopathy|Myosin storage myopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs564101364Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs727503242Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Myosin storage myopathy|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy|Cardiomyopathy
  • rs727503249Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction|Hypertrophic cardiomyopathy
  • rs727503263Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Congenital myopathy with fiber type disproportion|Hypertrophic cardiomyopathy 1
  • rs727503264Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs727503265Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Hypertrophic cardiomyopathy
  • rs727504273Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs727504385Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880733Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880742Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880753Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880765Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880766Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880768Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880773Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880796Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880800Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs730880810Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880863Conflicting interpretationssingle nucleotide variant
  • rs730880870Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S
  • rs730880876Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880878Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs730880883Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs730880901Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880906Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs730880921Conflicting interpretationssingle nucleotide variant
  • rs753392652Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy|See cases
  • rs758665829Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Myosin storage myopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs763538103Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs767148171Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs863225095Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs863225101Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs869025477Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy
  • rs876657887Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs886038901Conflicting interpretationsDeletionCardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs886039204Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs141764279Likely benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|7 conditions|Ventricular fibrillation|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Myosin storage myopathy|MYH7-related skeletal myopathy
  • rs150292548Likely benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs186276057Likely benignsingle nucleotide variantHypertrophic cardiomyopathy
  • rs187073962Likely benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|Myosin storage myopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs200000290Likely benignsingle nucleotide variantHypertrophic cardiomyopathy
  • rs200374977Likely benignsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy
  • rs201307101Likely benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Wolff-Parkinson-White pattern|Cardiomyopathy|MYH7-related skeletal myopathy|Myosin storage myopathy|Congenital myopathy with fiber type disproportion
  • rs376754645Likely benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs397516115Likely benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516139Likely benignsingle nucleotide variant
  • rs397516226Likely benignsingle nucleotide variantCardiomyopathy
  • rs45478699Likely benignsingle nucleotide variantHypertrophic cardiomyopathy 1|Dilated cardiomyopathy 1S|Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Myosin storage myopathy|MYH7-related skeletal myopathy|See cases
  • rs727503248Likely benignsingle nucleotide variantCardiomyopathy
  • rs1057519221Likely pathogenicsingle nucleotide variant
  • rs1060501436Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs1060505018Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Congenital myopathy with fiber type disproportion
  • rs1064796729Likely pathogenicsingle nucleotide variant
  • rs1064797184Likely pathogenicsingle nucleotide variant
  • rs121913629Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs121913650Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs138049878Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs141735183Likely pathogenicsingle nucleotide variantCardiomyopathy
  • rs145213771Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs202141173Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy
  • rs397515482Likely pathogenicsingle nucleotide variantLeft ventricular noncompaction 5|Left ventricular noncompaction cardiomyopathy
  • rs397516095Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516098Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy
  • rs397516103Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs397516123Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs397516142Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy
  • rs397516152Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516156Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516166Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy
  • rs397516172Likely pathogenicMicrosatelliteHypertrophic cardiomyopathy
  • rs397516179Likely pathogenicsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs397516237Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516254Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S
  • rs587782961Likely pathogenicsingle nucleotide variantLeft ventricular noncompaction cardiomyopathy
  • rs606231315Likely pathogenicsingle nucleotide variantFamilial cardiomyopathy
  • rs606231318Likely pathogenicsingle nucleotide variantFamilial cardiomyopathy
  • rs606231321Likely pathogenicsingle nucleotide variantFamilial cardiomyopathy
  • rs606231335Likely pathogenicsingle nucleotide variantFamilial cardiomyopathy
  • rs606231340Likely pathogenicsingle nucleotide variantFamilial cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs727503258Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs727503276Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs727504237Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Primary familial dilated cardiomyopathy
  • rs727504267Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs727504356Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs727504409Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs727504925Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs727505132Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880160Likely pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy
  • rs730880731Likely pathogenicsingle nucleotide variant
  • rs730880736Likely pathogenicsingle nucleotide variant
  • rs730880743Likely pathogenicsingle nucleotide variant
  • rs730880745Likely pathogenicsingle nucleotide variant
  • rs730880747Likely pathogenicsingle nucleotide variant
  • rs730880754Likely pathogenicsingle nucleotide variant
  • rs730880758Likely pathogenicsingle nucleotide variant
  • rs730880759Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Dilated cardiomyopathy 1S
  • rs730880769Likely pathogenicsingle nucleotide variant
  • rs730880791Likely pathogenicsingle nucleotide variant
  • rs730880804Likely pathogenicsingle nucleotide variant
  • rs730880836Likely pathogenicsingle nucleotide variant
  • rs730880847Likely pathogenicsingle nucleotide variant
  • rs730880857Likely pathogenicsingle nucleotide variant
  • rs730880875Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype
  • rs730880884Likely pathogenicsingle nucleotide variant
  • rs730880887Likely pathogenicMicrosatellite
  • rs730880892Likely pathogenicDeletion
  • rs730880907Likely pathogenicsingle nucleotide variant
  • rs730880917Likely pathogenicsingle nucleotide variant
  • rs730880934Likely pathogenicDeletion
  • rs863224900Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Myosin storage myopathy|MYH7-related late-onset scapuloperoneal muscular dystrophy|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S
  • rs863225097Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs863225098Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs863225099Likely pathogenicDeletionHypertrophic cardiomyopathy 1
  • rs863225100Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs863225102Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs863225103Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs876661179Likely pathogenicDeletion
  • rs886039185Likely pathogenicsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs1057520814Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs1060501452Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs121913624Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs121913626Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs121913627Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|MYH7-Related Disorders
  • rs121913628Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|7 conditions|Left ventricular noncompaction cardiomyopathy
  • rs121913630Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs121913631Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs121913632Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs121913633Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs121913634Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs121913636Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1
  • rs121913637Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S
  • rs121913638Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs121913641Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs121913642Pathogenicsingle nucleotide variantDilated cardiomyopathy 1S|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy
  • rs121913643Pathogenicsingle nucleotide variantDilated cardiomyopathy 1S|Hypertrophic cardiomyopathy
  • rs121913647Pathogenicsingle nucleotide variantMYH7-related skeletal myopathy|Hypertrophic cardiomyopathy
  • rs121913649Pathogenicsingle nucleotide variantMyosin storage myopathy
  • rs121913654Pathogenicsingle nucleotide variantMyosin storage myopathy|Left ventricular noncompaction 5|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy
  • rs1224554825Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs138110910Pathogenicsingle nucleotide variantLeft ventricular noncompaction 5
  • rs148808089Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 1
  • rs193922390Pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 1|Cardiomyopathy|Asymmetric septal hypertrophy
  • rs267606908Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|7 conditions|Cardiomyopathy
  • rs267606911Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1S
  • rs3218713Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|7 conditions|Cardiomyopathy
  • rs3218714Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|7 conditions|Cardiovascular phenotype|Cardiomyopathy
  • rs3218716Pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|7 conditions|Cardiovascular phenotype|Wolff-Parkinson-White pattern|6 conditions|Primary familial dilated cardiomyopathy|Cardiomyopathy|MYH7-Related Disorders

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.