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Gene entry

ANO5

anoctamin 5

Chromosome
11
Cytoband
11p14.3
Variants (rsID)
39

ANO5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p14.3). Its official name is “anoctamin 5”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs10766930Benignsingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|ANO5-Related Muscle Diseases|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3
  • rs61910685Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3
  • rs76850415Benignsingle nucleotide variantANO5-Related Muscle Diseases|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3
  • rs143777403Conflicting interpretationssingle nucleotide variantGnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases
  • rs147121216Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|ANO5-Related Muscle Diseases
  • rs148293985Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases|Gnathodiaphyseal dysplasia
  • rs201678262Conflicting interpretationssingle nucleotide variantGnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs201725369Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3|Abnormality of the musculature|Autosomal recessive limb-girdle muscular dystrophy
  • rs281865467Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia
  • rs375014127Conflicting interpretationssingle nucleotide variantFatty replacement of skeletal muscle|Elevated circulating creatine kinase concentration|Distal muscle weakness|Myopathy|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3
  • rs377549896Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases
  • rs61746201Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases
  • rs781027702Conflicting interpretationssingle nucleotide variantANO5-Related Disorders|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Limb-girdle muscular dystrophy
  • rs78428314Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|ANO5-Related Muscle Diseases
  • rs78899595Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|ANO5-Related Muscle Diseases
  • rs78929863Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|ANO5-Related Muscle Diseases
  • rs137854523Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|ANO5-Related Disorders|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3|Hereditary fructosuria|Gnathodiaphyseal dysplasia
  • rs137854524Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia
  • rs137854526Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Abnormality of the musculature|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs137854529Pathogenicsingle nucleotide variantMiyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia
  • rs142027093Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs372221490Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs566415362Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs868484837PathogenicDeletionGnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs149017832Uncertain significancesingle nucleotide variantGnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L
  • rs190937193Uncertain significancesingle nucleotide variantGnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia

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.