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Gene entry

CAPN3

calpain 3

Chromosome
15
Cytoband
15q15.1
Variants (rsID)
52

CAPN3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q15.1). Its official name is “calpain 3”. The reference table lists 52 variants (rsID) for this gene.

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Clinically classified variants

37 reference-table entries with clinical significance.

  • rs17592Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Limb-Girdle Muscular Dystrophy, Recessive
  • rs1801449Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Limb-Girdle Muscular Dystrophy, Recessive|Muscular dystrophy, limb-girdle, autosomal dominant 4
  • rs1801505Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs35889956Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs138867099Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs144383442Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs146923842Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|CAPN3-Related Disorders|Muscular dystrophy, limb-girdle, autosomal dominant 4
  • rs147774793Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs148044781Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy
  • rs148246325Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs199884116Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs202019404Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs28364364Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs28364543Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs73402734Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs747026964Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs751429914Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs121434544Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4
  • rs121434547Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs121434548Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy
  • rs141656719Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4|Autosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4|CAPN3-Related Disorders
  • rs149095128Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy
  • rs149914792Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Limb-girdle muscular dystrophy
  • rs199806879Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs200379491Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs201736037Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy
  • rs369552114Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4
  • rs374665929Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs376107921Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4|Autosomal recessive limb-girdle muscular dystrophy type 2A|Abnormality of the musculature
  • rs761211705Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs776043976Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs778768583Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs80338802Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A|Abnormality of the musculature
  • rs80338804PathogenicInsertionAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs863224956Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A
  • rs878854364Pathogenicsingle nucleotide variantMuscular dystrophy, limb-girdle, autosomal dominant 4|Autosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy type 2A
  • rs149969786Uncertain significancesingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2A

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.