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Gene entry

DES

desmin

Chromosome
2
Cytoband
2q35
Variants (rsID)
36

DES is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “desmin”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

36 reference-table entries with clinical significance.

  • rs1058261Benignsingle nucleotide variantCardiovascular phenotype|Myofibrillar Myopathy, Dominant|Neurogenic scapuloperoneal syndrome, Kaeser type|Dilated cardiomyopathy 1I|Desmin-related myofibrillar myopathy
  • rs151226355Benignsingle nucleotide variantMyofibrillar myopathy|Desmin-related myofibrillar myopathy
  • rs144261171Conflicting interpretationssingle nucleotide variantLeft ventricular noncompaction cardiomyopathy|Desmin-related myofibrillar myopathy|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Myofibrillar Myopathy, Dominant|See cases|Cardiomyopathy
  • rs147327878Conflicting interpretationssingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs199972656Conflicting interpretationssingle nucleotide variantMyofibrillar Myopathy, Dominant|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Cardiomyopathy|Desmin-related myofibrillar myopathy
  • rs367961979Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Myofibrillar Myopathy, Dominant|Desmin-related myofibrillar myopathy
  • rs370239228Conflicting interpretationssingle nucleotide variantDesmin-related myofibrillar myopathy|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type
  • rs397516691Conflicting interpretationssingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs41272699Conflicting interpretationssingle nucleotide variantCongenital diaphragmatic hernia|Myofibrillar myopathy|Cardiovascular phenotype|Myofibrillar Myopathy, Dominant|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Desmin-related myofibrillar myopathy|Cardiomyopathy
  • rs578191306Conflicting interpretationssingle nucleotide variantNeurogenic scapuloperoneal syndrome, Kaeser type|Dilated cardiomyopathy 1I|Myofibrillar Myopathy, Dominant|Desmin-related myofibrillar myopathy
  • rs62636491Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Cardiomyopathy|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type
  • rs62636492Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Dilated cardiomyopathy 1I
  • rs761255472Conflicting interpretationssingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs776786349Conflicting interpretationssingle nucleotide variantCardiomyopathy|Desmin-related myofibrillar myopathy
  • rs57694264Likely pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs60794845Likely pathogenicsingle nucleotide variant
  • rs121913001Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs121913003Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
  • rs121913004Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs121913005Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs150974575Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Neuromuscular disease|Desmin-related myofibrillar myopathy
  • rs267607482Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs267607483Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Desmin-related myofibrillar myopathy
  • rs267607485Pathogenicsingle nucleotide variantMyofibrillar myopathy|Desmin-related myofibrillar myopathy
  • rs267607486Pathogenicsingle nucleotide variantDilated cardiomyopathy 1I|Desmin-related myofibrillar myopathy
  • rs267607490Pathogenicsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Primary dilated cardiomyopathy|Neuromuscular disease
  • rs267607495Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Neuromuscular disease|Desmin-related myofibrillar myopathy
  • rs267607499Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs57639980Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs57955682Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs57965306Pathogenicsingle nucleotide variantNeurogenic scapuloperoneal syndrome, Kaeser type|Desmin-related myofibrillar myopathy
  • rs59308628Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs61726467Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs62635763Pathogenicsingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs267607498Uncertain significancesingle nucleotide variantDesmin-related myofibrillar myopathy
  • rs58687088Uncertain significanceMicrosatelliteDesmin-related myofibrillar myopathy

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.