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Gene entry

MYL2

myosin light chain 2

Chromosome
12
Cytoband
12q24.11
Variants (rsID)
35

MYL2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.11). Its official name is “myosin light chain 2”. The reference table lists 35 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs2301610Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy 10|Cardiomyopathy
  • rs104894363Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy|MYL2-Related Disorders|Cardiomyopathy
  • rs143139258Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10|Cardiovascular phenotype|Dilated cardiomyopathy 1S|Primary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy
  • rs199474813Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10|Cardiomyopathy|MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
  • rs199474814Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10|Cardiomyopathy
  • rs201763406Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10
  • rs371405579Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10
  • rs397516398Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs397516399Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy
  • rs547860537Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10|Cardiomyopathy
  • rs727504425Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10
  • rs730880940Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy 10
  • rs730880944Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10
  • rs730880948Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10
  • rs750937792Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10|Cardiomyopathy
  • rs863225117Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 10|Cardiomyopathy
  • rs727503296Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs730880947Likely pathogenicsingle nucleotide variant
  • rs730880952Likely pathogenicsingle nucleotide variant
  • rs104894369Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 10|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs104894370Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 10|Cardiovascular phenotype
  • rs199474808Uncertain significancesingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Premature ventricular contraction|Death in infancy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 10|Hypertrophic cardiomyopathy 1|Cardiomyopathy
  • rs199474809Uncertain significancesingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy 10|Cardiomyopathy
  • rs375667565Uncertain significancesingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy 10
  • rs730880950Uncertain significancesingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy 10
  • rs2071629Not classifiedsingle nucleotide variant

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.