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Gene entry

DSP

desmoplakin

Chromosome
6
Cytoband
6p24.3
Variants (rsID)
183

DSP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p24.3). Its official name is “desmoplakin”. The reference table lists 183 variants (rsID) for this gene.

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Clinically classified variants

171 reference-table entries with clinical significance.

  • rs1016835Benignsingle nucleotide variantCardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis|Keratosis palmoplantaris striata 2
  • rs17604693Benignsingle nucleotide variantCardiomyopathy|Primary familial hypertrophic cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs181378432Benignsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Cardiomyopathy
  • rs2076300Benignsingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Keratosis palmoplantaris striata 2|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
  • rs28763961Benignsingle nucleotide variantCardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs28763967Benignsingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexplained death|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Brugada syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs28763969Benignsingle nucleotide variantLethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs34239595Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs34884895Benignsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Epidermolysis bullosa simplex due to plakophilin deficiency|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy|Hypertrophic cardiomyopathy|Systolic heart failure
  • rs397516953Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs397516963Benignsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs534740669Benignsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs61731476Benignsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy
  • rs77445784Benignsingle nucleotide variantCardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs113967308Conflicting interpretationssingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs116888866Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs121912998Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Keratosis palmoplantaris striata 2|Lethal acantholytic epidermolysis bullosa
  • rs138329459Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8
  • rs138907450Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy
  • rs139095230Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy
  • rs139509870Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs139799237Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy|Familial restrictive cardiomyopathy
  • rs141709096Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy
  • rs142059019Conflicting interpretationssingle nucleotide variant
  • rs142429411Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Epidermolysis bullosa simplex due to plakophilin deficiency|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs142494121Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs142717240Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy
  • rs142803672Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa
  • rs142885240Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Primary dilated cardiomyopathy|Hemiplegia|Migraine|Lethal acantholytic epidermolysis bullosa|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs144275591Conflicting interpretationssingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs145933612Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Dilated cardiomyopathy 1A
  • rs147000526Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8
  • rs147315869Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs147415451Conflicting interpretationssingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs147484870Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs148041814Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Restrictive cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs148894066Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs150339369Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa
  • rs150422458Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs151115778Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Dilated cardiomyopathy 1S|Cardiomyopathy
  • rs188516326Conflicting interpretationssingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs193922669Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs193922671Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs199795359Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs200243976Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8
  • rs200476515Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy
  • rs201397978Conflicting interpretationssingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs201930322Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy|Conduction disorder of the heart
  • rs202232360Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs28763965Conflicting interpretationssingle nucleotide variantFamilial isolated arrhythmogenic right ventricular dysplasia|Left ventricular noncompaction cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy|Primary familial dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8
  • rs28931610Conflicting interpretationssingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs368802003Conflicting interpretationssingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy
  • rs372440854Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Cardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs376186141Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs377715841Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs397516918Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs41302885Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Primary dilated cardiomyopathy
  • rs535202724Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy|Primary dilated cardiomyopathy
  • rs557263443Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs562015789Conflicting interpretationssingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs727502997Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs727503004Conflicting interpretationssingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs730882116Conflicting interpretationssingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs747448946Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy
  • rs768858918Conflicting interpretationssingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs886038929Conflicting interpretationsDeletionCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs370550974Likely benignsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Dilated cardiomyopathy 1A
  • rs397516926Likely benignsingle nucleotide variantCardiomyopathy
  • rs397516969Likely benignsingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs1057517903Likely pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8
  • rs1057523629Likely pathogenicsingle nucleotide variant
  • rs1060500609Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs113726158Likely pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs1238227166Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs1464253797Likely pathogenicsingle nucleotide variant
  • rs193922668Likely pathogenicMicrosatelliteCardiomyopathy
  • rs397516919Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs397516923Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs397516929Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs397516933Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs727503003Likely pathogenicDuplicationPrimary dilated cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy
  • rs727504498Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs727505077Likely pathogenicDeletionArrhythmogenic right ventricular cardiomyopathy
  • rs727505115Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs727505260Likely pathogenicDeletionArrhythmogenic right ventricular cardiomyopathy
  • rs730880092Likely pathogenicDeletionCardiomyopathy
  • rs730880093Likely pathogenicDeletionPrimary dilated cardiomyopathy
  • rs774514264Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728111Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs794728113Likely pathogenicsingle nucleotide variant
  • rs794728131Likely pathogenicsingle nucleotide variant
  • rs794728142Likely pathogenicDeletion
  • rs869025392Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs869025398Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs869025399Likely pathogenicDeletionPrimary dilated cardiomyopathy
  • rs879255521Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs1057518101Pathogenicsingle nucleotide variant
  • rs1057518920Pathogenicsingle nucleotide variantBicuspid aortic valve|Ventricular fibrillation|Sudden cardiac death|Cardiac arrhythmia|Aortic dilatation
  • rs1057523045Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs1060500607PathogenicDuplicationArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs1060500613PathogenicDeletionArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs1060500618Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs1064793890Pathogenicsingle nucleotide variant
  • rs1184921987Pathogenicsingle nucleotide variantCardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
  • rs1194358112Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs121912991Pathogenicsingle nucleotide variantKeratosis palmoplantaris striata 2
  • rs121912992Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8
  • rs121912993Pathogenicsingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome
  • rs121912994Pathogenicsingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome
  • rs121912995Pathogenicsingle nucleotide variantSkin fragility-woolly hair-palmoplantar keratoderma syndrome
  • rs121912996Pathogenicsingle nucleotide variantLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs121912997Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Primary dilated cardiomyopathy|Long QT syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs121912999Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8
  • rs1236464864Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 9
  • rs1267435790Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs1304410089Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs140474226Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs141026028Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs149701627Pathogenicsingle nucleotide variantCardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs397514039PathogenicDeletionArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs397514040PathogenicDeletionLethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs397514045PathogenicDeletionArrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs397516913PathogenicDeletionArrhythmogenic right ventricular cardiomyopathy
  • rs397516915Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|DSP-related arrhythmogenic cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs397516927PathogenicDuplicationPrimary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
  • rs397516940Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs397516946Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs397516955Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|6 conditions|Cardiomyopathy|Cardiac arrhythmia
  • rs397516956PathogenicDuplicationPrimary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs606231295Pathogenicsingle nucleotide variantCardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs727503000PathogenicDuplicationPrimary dilated cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs727505271PathogenicDeletionArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs730880023PathogenicDeletionLethal acantholytic epidermolysis bullosa
  • rs730880024PathogenicDeletionLethal acantholytic epidermolysis bullosa
  • rs746877365Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Long QT syndrome 1|DSP-Related Disorders|Cardiomyopathy
  • rs767643821Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs770873593Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Dilated cardiomyopathy 1A|Arrhythmogenic right ventricular dysplasia 8
  • rs778178956Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728106Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728119Pathogenicsingle nucleotide variant
  • rs794728121Pathogenicsingle nucleotide variant
  • rs794728124Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs794728130Pathogenicsingle nucleotide variant
  • rs794728135PathogenicDeletion
  • rs794728136PathogenicDeletionPrimary dilated cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy
  • rs794728137PathogenicDuplication6 conditions|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728139PathogenicMicrosatelliteArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728140PathogenicDeletion
  • rs794728141PathogenicDuplication
  • rs794728143PathogenicDeletionArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728146PathogenicDeletionArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|Cardiac arrhythmia
  • rs794728148PathogenicInsertionArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs794728149PathogenicDuplication
  • rs794728156Pathogenicsingle nucleotide variant
  • rs869025395Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs876657638Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs886039009PathogenicDeletionCardiovascular phenotype
  • rs886039178Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Familial isolated arrhythmogenic right ventricular dysplasia
  • rs886039343Pathogenicsingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs112242645Uncertain significancesingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs139969658Uncertain significancesingle nucleotide variant
  • rs144821643Uncertain significancesingle nucleotide variantCardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs181608152Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs200473206Uncertain significancesingle nucleotide variantPrimary dilated cardiomyopathy|Long QT syndrome|Primary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome
  • rs201133637Uncertain significancesingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy
  • rs201785897Uncertain significancesingle nucleotide variantArrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8
  • rs34738426Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|6 conditions|Cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome
  • rs367752002Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Primary dilated cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • rs372393122Uncertain significancesingle nucleotide variantLeft ventricular noncompaction cardiomyopathy|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
  • rs730880081Uncertain significancesingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy
  • rs786204293Not classifiedDuplication

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.