| | POMGNT1, TSPAN1 (G636A +3 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +7 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (P487R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (N619Y +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (R587Q +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more | |
| | POMGNT1, TSPAN1 (R609W +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (D586del +2 more) | Microsatellite (inframe_deletion) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (V433M +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | POMGNT1, TSPAN1 (S543T +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | TSPAN1, POMGNT1 (L549F +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | TSPAN1, POMGNT1 (Y398* +2 more) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (T524M +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (N523S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (K499E +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | | Single nucleotide variant (splice donor variant) | POMGNT1-related disorder +10 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (G362A +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | POMGNT1, TSPAN1 (C490Y +2 more) | Single nucleotide variant (missense variant) | POMGNT1-related disorder +7 more | GPathogenic/Likely pathogenic |
| | TSPAN1, POMGNT1 (R486G +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +6 more | |
| | POMGNT1, TSPAN1 (R485H +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (Y298H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | TSPAN1, POMGNT1 (I422L +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (K387R +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (P241L +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (N381S +2 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | POMGNT1, TSPAN1 (N238D +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (I361T +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (I337T +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +6 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (Q183R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | POMGNT1, TSPAN1 (R320C +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (D296E +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (P150fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy +1 more | GPathogenic/Likely pathogenic |
| | TSPAN1, POMGNT1 (I287S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | |
| | POMGNT1, TSPAN1 (S280N +2 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 +7 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R245H +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | POMGNT1, TSPAN1 (R123W +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R242H +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (E251D +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more | |
| | POMGNT1, TSPAN1 (S195N +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | POMGNT1, TSPAN1 (H184Y +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +4 more | |
| | POMGNT1, TSPAN1 (I152L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | Muscle eye brain disease +1 more | |
| | POMGNT1, TSPAN1 (A168V +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | |
| | POMGNT1, TSPAN1 (M144V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | POMGNT1, TSPAN1 (V126L +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (A139P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | POMGNT1, TSPAN1 (R103W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |