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Gene entry

MMUT

methylmalonyl-CoA mutase

Chromosome
6
Cytoband
6p12.3
Variants (rsID)
30

MMUT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p12.3). Its official name is “methylmalonyl-CoA mutase”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

27 reference-table entries with clinical significance.

  • rs138085432Benignsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs2229385Benignsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs140727018Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • rs145682249Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs147715336Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • rs150642856Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs369131814Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • rs368790885Likely pathogenicsingle nucleotide variant
  • rs121918249Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(0) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs121918252Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(-) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs121918253Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(-) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs121918254Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(0) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia
  • rs121918255Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(0) TYPE
  • rs121918256Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(0) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs121918257Pathogenicsingle nucleotide variantMETHYLMALONIC ACIDURIA, mut(0) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs564069299Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs753288303Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs772552898Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs777758903Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs778702777Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs779990936Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Abnormality of metabolism/homeostasis
  • rs879253823PathogenicDuplicationMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • rs879253852Pathogenicsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • rs150968643Uncertain significancesingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs201536536Uncertain significancesingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
  • rs398123277Uncertain significanceMicrosatelliteMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • rs190834116Not classifiedsingle nucleotide variantMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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.