NM_013382.7(POMT2):c.1006+1G>APathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided|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
β
β
ββ2026
NM_013382.7(POMT2):c.333+1G>TPathogenic
Autosomal 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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided|Muscular dystrophy|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|POMT2-related disorder
β
β
ββ2025β Residue 666
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)Likely pathogenic
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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Autosomal recessive limb-girdle muscular dystrophy
β
β
ββ2025β Residue 266
NM_013382.7(POMT2):c.1333-14G>APathogenic
Muscular 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|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
β
β
ββ2025
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2N|not provided|Intellectual disability|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|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025β Residue 184
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)Pathogenic
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;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided
β
β
ββ2025β Residue 96
NM_013382.7(POMT2):c.673del (p.Trp225fs)Pathogenic
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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025β Residue 225
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)Pathogenic
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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025β Residue 147
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)Pathogenic
not provided|Muscular 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
β
β
ββ2025β Residue 588
NM_013382.7(POMT2):c.678del (p.Trp226fs)Pathogenic
Muscular dystrophy|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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025β Residue 226
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|not provided|POMT2-related disorder
β
β
ββ2025β Residue 353
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)Pathogenic
not provided|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|Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025β Residue 421
NM_013382.7(POMT2):c.1485-2_1485-1delLikely pathogenic
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 A2
β
β
ββ2025
NM_013382.7(POMT2):c.879_880del (p.Thr295fs)Pathogenic
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|POMT2-related disorder
β
β
ββ2025β Residue 295
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)Pathogenic
not provided|Inborn genetic diseases|POMT2-related disorder|Muscular 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
β
β
ββ2025β Residue 572
NM_013382.7(POMT2):c.1786-2A>TPathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2025
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided|Autosomal recessive limb-girdle muscular dystrophy|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
β
β
ββ2024β Residue 638
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)Pathogenic
not provided|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
β
β
ββ2024β Residue 213
NM_013382.7(POMT2):c.333+1G>APathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β
β
ββ2024