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Gene entry

PMM2

phosphomannomutase 2

Chromosome
16
Cytoband
16p13.2
Variants (rsID)
30

PMM2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.2). Its official name is “phosphomannomutase 2”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

22 reference-table entries with clinical significance.

  • rs2075827Benignsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs62031146Benignsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs200930493Conflicting interpretationssingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs537238935Conflicting interpretationssingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs61730638Conflicting interpretationssingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs72766381Likely benignsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs104894526Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs104894532Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs104894534Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs139716296Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|Intellectual disability
  • rs148032587Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|Inborn genetic diseases
  • rs150719105Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs190521996Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|See cases
  • rs28936415Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|Inborn genetic diseases|6 conditions|Congenital disorder of glycosylation|Muscular dystrophy|Congenital cerebellar hypoplasia|Diabetes mellitus|Cerebellar ataxia|Cerebellar ataxia|Congenital cerebellar hypoplasia|Congenital disorder of glycosylation type I
  • rs78290141Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs80338700Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|6 conditions
  • rs80338701Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|Inborn genetic diseases
  • rs80338702Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs80338703Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|Congenital cerebellar hypoplasia
  • rs80338704Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs80338707Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation
  • rs80338709Pathogenicsingle nucleotide variantPMM2-congenital disorder of glycosylation|Inborn genetic diseases

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.