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Gene entry

MFN2

mitofusin 2

Chromosome
1
Cytoband
1p36.22
Variants (rsID)
32

MFN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.22). Its official name is “mitofusin 2”. The reference table lists 32 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs11554508Benignsingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs12069578Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs150043585Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease
  • rs2295281Benignsingle nucleotide variant
  • rs137960129Conflicting interpretationssingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs138345244Conflicting interpretationssingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2
  • rs138382758Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Toe walking
  • rs138724074Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease
  • rs140234726Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs140924661Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs144860227Conflicting interpretationssingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs201715603Conflicting interpretationssingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs369762154Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2A2
  • rs864622480Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
  • rs119103263Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|14 conditions|Charcot-Marie-Tooth disease
  • rs119103265Pathogenicsingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4
  • rs119103267Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Inborn genetic diseases|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|MFN2-Related Disorders|Charcot-Marie-Tooth disease|Peripheral axonal neuropathy|Neuropathy, hereditary motor and sensory, type 6A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2
  • rs119103268Pathogenicsingle nucleotide variantHereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Inborn genetic diseases
  • rs28940291Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs28940292Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease
  • rs28940293Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2
  • rs28940294Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Peripheral neuropathy
  • rs387906990Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2
  • rs794729198Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2
  • rs879254011Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
  • rs138072432Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2A2

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.