Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

POMT2

protein O-mannosyltransferase 2

Chromosome
14
Cytoband
14q24.3
Variants (rsID)
28

POMT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “protein O-mannosyltransferase 2”. The reference table lists 28 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

18 reference-table entries with clinical significance.

  • rs117173425Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs140785104Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • rs151078549Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs141339355Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs146588608Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs147268052Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs147871747Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • rs150491326Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs151051452Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs267606971Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2N|Intellectual disability|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • rs780532724Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs45561437Likely benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2N
  • rs200198778Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • rs267606966Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • rs368817785Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs533916138Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs142445941Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N
  • rs190285831Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

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.