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Gene entry

DSG2

desmoglein 2

Chromosome
18
Cytoband
18q12.1
Variants (rsID)
69

DSG2 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 “desmoglein 2”. The reference table lists 69 variants (rsID) for this gene.

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Clinically classified variants

59 reference-table entries with clinical significance.

  • rs142841727Benignsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy
  • rs149617776Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs1791235Benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs191143292Benignsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 1|Cardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs200395484Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Cardiomyopathy
  • rs201654341Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Cardiomyopathy
  • rs2230232Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs79068489Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs9304101Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs121913010Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs121913013Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Dilated cardiomyopathy 1BB|Arrhythmogenic right ventricular cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome
  • rs183494886Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs191300661Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs191564916Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs193922639Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular dysplasia 1
  • rs199681901Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs200830807Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs201855245Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Cardiomyopathy
  • rs2230234Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs368512832Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Cardiomyopathy
  • rs370509593Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs373542380Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
  • rs375527314Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs397516711Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs539821357Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs551034751Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs553299589Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs576404380Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs62095193Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
  • rs727504783Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs730880347Conflicting interpretationsDuplicationArrhythmogenic right ventricular dysplasia 10
  • rs758537946Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs780469370Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs1064793103Likely pathogenicDeletion
  • rs1382430464Likely pathogenicsingle nucleotide variant
  • rs193298428Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs397516712Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs869025388Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs1064793983Pathogenicsingle nucleotide variantCardiomyopathy
  • rs121913006Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs121913007Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs121913008Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
  • rs121913011Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs750176752Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs758282201PathogenicDeletionArrhythmogenic right ventricular dysplasia 10
  • rs794728083Pathogenicsingle nucleotide variant
  • rs794728086Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs794728091PathogenicInsertionArrhythmogenic right ventricular dysplasia 10
  • rs794728092PathogenicDeletion
  • rs121913009Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs121913012Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
  • rs185821167Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs200264407Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs200804638Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs201564919Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Cardiomyopathy
  • rs375679311Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
  • rs397516702Uncertain significancesingle nucleotide variant
  • rs774863785Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 10
  • rs786204291Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10|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.