Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

DMD

dystrophin

Chromosome
X
Cytoband
Xp21.2-p21.1
Variants (rsID)
1,273

DMD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp21.2-p21.1). Its official name is “dystrophin”. The reference table lists 1273 variants (rsID) for this gene.

Clinically classified variants

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

  • rs138399787Benignsingle nucleotide variantAbnormality of neuronal migration|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs140919039Benignsingle nucleotide variantDuchenne muscular dystrophy|Cardiovascular phenotype|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs141392048Benignsingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs143184877Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs143848649Benignsingle nucleotide variantCardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy
  • rs144329742Benignsingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs151244052Benignsingle nucleotide variantMuscular dystrophy|Cardiovascular phenotype|Duchenne muscular dystrophy|Primary dilated cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy
  • rs16990169Benignsingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs16990264Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs1800269Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs1800273Benignsingle nucleotide variantDuchenne muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs1800275Benignsingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Becker muscular dystrophy
  • rs1800278Benignsingle nucleotide variantDuchenne muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 3B|Dystrophin deficiency|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy
  • rs1800279Benignsingle nucleotide variantBecker muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy
  • rs1800280Benignsingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs1800281Benignsingle nucleotide variantDilated cardiomyopathy 3B|Cardiovascular phenotype|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs1801187Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs182575709Benignsingle nucleotide variantDuchenne muscular dystrophy
  • rs182728059Benignsingle nucleotide variantDuchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy|Duchenne muscular dystrophy
  • rs185706283Benignsingle nucleotide variantDilated cardiomyopathy 3B|Cardiovascular phenotype|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs192176661Benignsingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs193249735Benignsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs228373Benignsingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs228406Benignsingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs3361Benignsingle nucleotide variantDilated cardiomyopathy 3B
  • rs369384547Benignsingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs370724251Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs3761604Benignsingle nucleotide variantDystrophin deficiency|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy
  • rs41303181Benignsingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs41305353Benignsingle nucleotide variantDuchenne muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 3B|Dystrophin deficiency|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy
  • rs5927083Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs5927163Benignsingle nucleotide variant
  • rs5972467Benignsingle nucleotide variantCardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs5972633Benignsingle nucleotide variantCardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy
  • rs61733587Benignsingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs61733589Benignsingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs72466570Benignsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Cardiovascular phenotype|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs72468623Benignsingle nucleotide variant
  • rs72468638Benignsingle nucleotide variantDilated cardiomyopathy 3B|Cardiovascular phenotype|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs112516305Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs116283249Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs139365076Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs141151675Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Cardiomyopathy|Dystrophin deficiency|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs142236825Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs142807436Conflicting interpretationssingle nucleotide variantCardiomyopathy|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs145603325Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy
  • rs147474070Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Cardiomyopathy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs147822019Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs148135406Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs148835707Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs180719577Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs181284440Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs182597890Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy
  • rs189143447Conflicting interpretationssingle nucleotide variantBecker muscular dystrophy|Duchenne muscular dystrophy|Dystrophin deficiency
  • rs192004962Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs199588981Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs199643655Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Cardiovascular phenotype|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs199986217Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs200025478Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs200596739Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B
  • rs200887855Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs201067368Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs201262489Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs201297190Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs201302282Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Duchenne muscular dystrophy|Cardiovascular phenotype
  • rs201341211Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy
  • rs201390145Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs201718067Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs202008454Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Dilated cardiomyopathy 3B|Dystrophin deficiency|Cardiomyopathy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs34102501Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs34563188Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs367757761Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs370171367Conflicting interpretationssingle nucleotide variantCardiomyopathy|Dystrophin deficiency|Becker muscular dystrophy|Duchenne muscular dystrophy|Duchenne muscular dystrophy
  • rs370644567Conflicting interpretationssingle nucleotide variantExertional myalgia, muscle stiffness and myoglobinuria|Inborn genetic diseases|Duchenne muscular dystrophy|Becker muscular dystrophy|Dilated cardiomyopathy 3B
  • rs371648742Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs373281760Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency
  • rs373832446Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy
  • rs376024929Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs398123931Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs398123965Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs398123994Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs72466590Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Becker muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B
  • rs72468680Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs72468699Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction cardiomyopathy|Primary dilated cardiomyopathy|Cardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs72470507Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs745868830Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency
  • rs746514008Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs748786108Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs752332058Conflicting interpretationsDeletionPrimary familial dilated cardiomyopathy|Duchenne muscular dystrophy
  • rs754765424Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Duchenne muscular dystrophy
  • rs754997935Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs755438733Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency
  • rs760373690Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy
  • rs766746479Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs766977775Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs771051897Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs771803281Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Dystrophin deficiency|Cardiomyopathy
  • rs774450833Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy
  • rs775115784Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Cardiomyopathy
  • rs781015830Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy
  • rs794727031Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs886038537Conflicting interpretationssingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Duchenne muscular dystrophy
  • rs886044675Conflicting interpretationssingle nucleotide variantDystrophin deficiency|Duchenne muscular dystrophy
  • rs187926894Likely benignsingle nucleotide variantCardiovascular phenotype|Duchenne muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Becker muscular dystrophy|Duchenne muscular dystrophy
  • rs398123959Likely pathogenicDeletionQualitative or quantitative defects of dystrophin
  • rs398124033Likely pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398124084Likely pathogenicsingle nucleotide variant
  • rs104894787Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency|Becker muscular dystrophy
  • rs104894788Pathogenicsingle nucleotide variantDuchenne muscular dystrophy, intellectual disability, and absence of erg b-wave
  • rs104894789Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs104894790Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|X-linked DMD-related dystrophinopathy|Abnormality of the musculature|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy|See cases
  • rs104894797Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Cardiomyopathy
  • rs1064325Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy
  • rs128625228Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128625229Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Cardiomyopathy
  • rs128626231Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626232Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626237Pathogenicsingle nucleotide variantBecker muscular dystrophy
  • rs128626240Pathogenicsingle nucleotide variantIntermediate muscular dystrophy
  • rs128626242Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626243Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626246Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626249Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626250Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128626251Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs128627256Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy
  • rs146071084Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs146880270Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs201361100Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs373286166Pathogenicsingle nucleotide variantBecker muscular dystrophy|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy
  • rs373804251Pathogenicsingle nucleotide variant
  • rs398123827Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
  • rs398123828Pathogenicsingle nucleotide variantDilated cardiomyopathy 3B
  • rs398123830Pathogenicsingle nucleotide variant
  • rs398123832Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Abnormality of the musculature
  • rs398123833Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123834Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Intermediate muscular dystrophy
  • rs398123835PathogenicDuplicationDuchenne muscular dystrophy
  • rs398123837PathogenicDeletion
  • rs398123840Pathogenicsingle nucleotide variant
  • rs398123844PathogenicDeletion
  • rs398123852Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123853Pathogenicsingle nucleotide variant
  • rs398123854PathogenicDuplication
  • rs398123857PathogenicDeletion
  • rs398123859PathogenicDuplication
  • rs398123861Pathogenicsingle nucleotide variant
  • rs398123862Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123865Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123866PathogenicDeletion
  • rs398123867Pathogenicsingle nucleotide variant
  • rs398123870Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123871Pathogenicsingle nucleotide variant
  • rs398123872Pathogenicsingle nucleotide variantAbnormality of the musculature
  • rs398123873PathogenicMicrosatelliteDuchenne muscular dystrophy
  • rs398123875PathogenicDeletion
  • rs398123876Pathogenicsingle nucleotide variant
  • rs398123881PathogenicDeletionDuchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
  • rs398123882PathogenicDeletionDuchenne muscular dystrophy
  • rs398123883Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123884Pathogenicsingle nucleotide variant
  • rs398123887Pathogenicsingle nucleotide variant
  • rs398123888Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123889Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123893PathogenicDeletionDuchenne muscular dystrophy
  • rs398123895PathogenicDeletion
  • rs398123901Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123903Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123905Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123909Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123910Pathogenicsingle nucleotide variant
  • rs398123912Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Abnormality of the musculature
  • rs398123913PathogenicDeletion
  • rs398123916Pathogenicsingle nucleotide variant
  • rs398123917Pathogenicsingle nucleotide variant
  • rs398123919Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123920Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123921Pathogenicsingle nucleotide variant
  • rs398123923Pathogenicsingle nucleotide variantDilated cardiomyopathy 3B|Duchenne muscular dystrophy|Cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy
  • rs398123929Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Qualitative or quantitative defects of dystrophin
  • rs398123934Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123935Pathogenicsingle nucleotide variantBecker muscular dystrophy|Duchenne muscular dystrophy
  • rs398123936Pathogenicsingle nucleotide variant
  • rs398123937Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123938Pathogenicsingle nucleotide variant
  • rs398123939Pathogenicsingle nucleotide variant
  • rs398123942Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123945PathogenicDeletion
  • rs398123948Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123949PathogenicDeletion
  • rs398123950PathogenicDeletionDuchenne muscular dystrophy
  • rs398123952Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123953Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Qualitative or quantitative defects of dystrophin|Cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy
  • rs398123954Pathogenicsingle nucleotide variant
  • rs398123957PathogenicDeletionDuchenne muscular dystrophy
  • rs398123969Pathogenicsingle nucleotide variant
  • rs398123973Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy
  • rs398123979PathogenicDeletionDuchenne muscular dystrophy
  • rs398123980Pathogenicsingle nucleotide variantDuchenne muscular dystrophy
  • rs398123981Pathogenicsingle nucleotide variantDuchenne muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|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.