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Gene entry

POMT1

protein O-mannosyltransferase 1

Chromosome
9
Cytoband
9q34.13
Variants (rsID)
39

POMT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.13). Its official name is “protein O-mannosyltransferase 1”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

39 reference-table entries with clinical significance.

  • rs10901065Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs11243406Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs140258585Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs144051476Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs147266709Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs149554732Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs150367385Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs150814269Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs2296949Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs34954751Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs35242383Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs4740164Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs76109289Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs117985576Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Intellectual disability
  • rs138902646Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs139687326Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs142995404Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs144338642Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs146869947Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs147143094Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs147212285Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs150937126Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs200465419Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs202121299Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2K
  • rs371653610Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs377304621Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs58896330Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs76092524Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy
  • rs886043325Conflicting interpretationssingle nucleotide variant
  • rs119462982Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Abnormality of the nervous system
  • rs119462985Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs119462986Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs119462987Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs149682171Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Walker-Warburg congenital muscular dystrophy
  • rs200056620Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Limb-girdle muscular dystrophy due to POMK deficiency
  • rs398124245PathogenicDuplicationMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|POMT1-Related Disorders|Ventriculomegaly|Abnormal brainstem morphology
  • rs587777819PathogenicMicrosatelliteMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs147601415Uncertain significancesingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • rs202202445Uncertain significancesingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.