| | POMGNT1, TSPAN1 (V483fs +2 more) | Deletion (frameshift variant +1 more) | Muscle eye brain disease +4 more | GPathogenic/Likely pathogenic |
| | 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 (W590* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (S543fs +2 more) | Microsatellite (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | POMGNT1-related disorder +10 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (C490Y +2 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 +7 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R488G +2 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 +4 more | |
| | POMGNT1, TSPAN1 (R486G +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (synonymous variant) | POMGNT1-related disorder +4 more | |
| | | Deletion (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more | GConflicting classifications of pathogenicity |
| | 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 (S280N +2 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more | |
| | POMGNT1, TSPAN1 (R149Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | |
| | POMGNT1, TSPAN1 (V119M +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 76 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more | |