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Gene entry

POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Chromosome
1
Cytoband
1p34.1
Variants (rsID)
22

POMGNT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.1). Its official name is “protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)”. The reference table lists 22 variants (rsID) for this gene.

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Clinically classified variants

20 reference-table entries with clinical significance.

  • rs146097254Benignsingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs2292485Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Retinitis pigmentosa 76
  • rs2292486Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Retinitis pigmentosa 76
  • rs12737140Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2O|Congenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs150576537Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2O|Congenital Muscular Dystrophy, alpha-dystroglycan related|Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • rs189274856Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2O|Congenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease
  • rs386834010Conflicting interpretationssingle nucleotide variantMuscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs386834012Conflicting interpretationssingle nucleotide variantMuscle eye brain disease|POMGNT1-Related Disorders|Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs74374973Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2O|Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Congenital Muscular Dystrophy, alpha-dystroglycan related|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs193919335Likely pathogenicsingle nucleotide variantMuscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • rs386834011Likely pathogenicsingle nucleotide variantMuscle eye brain disease
  • rs193919336Pathogenicsingle nucleotide variantMuscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • rs267606960Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease|Muscle eye brain disease|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs28940869Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • rs386834014Pathogenicsingle nucleotide variantMuscle eye brain disease|Retinitis pigmentosa 76
  • rs386834019Pathogenicsingle nucleotide variantMuscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Retinitis pigmentosa 76
  • rs386834024Pathogenicsingle nucleotide variantMuscle eye brain disease|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • rs386834034Pathogenicsingle nucleotide variantMuscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy
  • rs386834039Pathogenicsingle nucleotide variantMuscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
  • rs200863680Uncertain significancesingle nucleotide variantRetinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

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.