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Gene entry

IGHMBP2

immunoglobulin mu DNA binding protein 2

Chromosome
11
Cytoband
11q13.3
Variants (rsID)
41

IGHMBP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.3). Its official name is “immunoglobulin mu DNA binding protein 2”. The reference table lists 41 variants (rsID) for this gene.

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Clinically classified variants

32 reference-table entries with clinical significance.

  • rs10896380Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
  • rs112575423Benignsingle nucleotide variantCharcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1
  • rs118015540Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs144401213Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs148157556Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease
  • rs2228207Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1
  • rs2236654Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
  • rs2275996Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs34617762Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease
  • rs541245852Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs76707931Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease
  • rs77822399Benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs117061430Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease
  • rs117995705Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs139926138Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease
  • rs142062146Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs144681826Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1
  • rs147674615Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2S
  • rs148095551Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2S
  • rs35193202Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease
  • rs368775789Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1
  • rs372230504Conflicting interpretationssingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease
  • rs2228205Likely benignsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
  • rs137852665Pathogenicsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1
  • rs137852667Pathogenicsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Peripheral neuropathy
  • rs145226920Pathogenicsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease|Neurodevelopmental disorder
  • rs200089714Pathogenicsingle nucleotide variantDistal spinal muscular atrophy|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
  • rs372000714Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Distal spinal muscular atrophy|Autosomal recessive distal spinal muscular atrophy 1|Peripheral neuropathy
  • rs780594709Pathogenicsingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal dominant distal hereditary motor neuropathy|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
  • rs797044802Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2S|Autosomal dominant distal hereditary motor neuropathy|Peripheral neuropathy
  • rs200079527Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
  • rs76690064Uncertain significancesingle nucleotide variantAutosomal recessive distal spinal muscular atrophy 1

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.