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Gene entry

DSC2

desmocollin 2

Chromosome
18
Cytoband
18q12.1
Variants (rsID)
47

DSC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q12.1). Its official name is “desmocollin 2”. The reference table lists 47 variants (rsID) for this gene.

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Clinically classified variants

37 reference-table entries with clinical significance.

  • rs117812913Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs139399951Benignsingle nucleotide variantCardiac arrest|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs143040393Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs1893963Benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 11|Cardiomyopathy
  • rs200056085BenignDuplicationArrhythmogenic right ventricular dysplasia 11|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype
  • rs138643506Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs140232809Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs142410803Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs143413607Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11|Cardiomyopathy
  • rs144799937Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs145560678Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs147742157Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs148185335Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs151024019Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs193922708Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs199918720Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiomyopathy
  • rs200475862Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiomyopathy
  • rs370325533Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs794728072Conflicting interpretationsDeletionArrhythmogenic right ventricular dysplasia 11|Dilated cardiomyopathy 1A
  • rs794728075Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs796756333Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|Cardiomyopathy
  • rs1064795963Likely pathogenicDeletion
  • rs397517393Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs794728073Likely pathogenicDeletionArrhythmogenic right ventricular dysplasia 11
  • rs886039128Likely pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs145476705Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs397514041PathogenicDeletionArrhythmogenic right ventricular dysplasia 11
  • rs397514043PathogenicDeletionArrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|Arrhythmogenic right ventricular dysplasia 11
  • rs397517408PathogenicDeletionArrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs878853170Pathogenicsingle nucleotide variantARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA|Arrhythmogenic right ventricular dysplasia 11
  • rs142331975Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 11
  • rs180863872Uncertain significancesingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs373201722Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 11|Cardiomyopathy
  • rs397517389Uncertain significancesingle nucleotide variantCardiomyopathy
  • rs397517395Uncertain significancesingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
  • rs397517404Uncertain significancesingle nucleotide variant
  • rs758527425Uncertain significancesingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 11

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.