| | | Single nucleotide variant (intron variant +1 more) | Muscular dystrophy-dystroglycanopathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | GPathogenic/Likely pathogenic |
| | TSPAN1, POMGNT1 (R605H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R605P +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +5 more | GPathogenic/Likely pathogenic |
| | 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 (M581fs +2 more) | Deletion (frameshift variant) | Muscle eye brain disease +1 more | |
| | POMGNT1, TSPAN1 (R580* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy +2 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (K376fs +2 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | GPathogenic/Likely pathogenic |
| | TSPAN1, POMGNT1 (Y373fs +2 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +10 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (G505S +2 more) | Single nucleotide variant (missense variant) | Muscle eye brain disease +6 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (F501S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | POMGNT1, TSPAN1 (R497Q +2 more) | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R475G +2 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 | |
| | POMGNT1, TSPAN1 (R354* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy +5 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (C490Y +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +7 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R488Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | GConflicting classifications of pathogenicity |
| | TSPAN1, POMGNT1 (R488* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R342C +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy +1 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (G448R +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R299H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R442C +2 more) | Single nucleotide variant (missense variant) | Muscle eye brain disease +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Muscle eye brain disease +4 more | |
| | TSPAN1, POMGNT1 (W425S +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R224H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (Y198del +2 more) | Microsatellite (inframe_deletion) | Retinitis pigmentosa +2 more | |
| | POMGNT1, TSPAN1 (D195* +2 more) | Duplication (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more | GConflicting classifications of pathogenicity |
| | TSPAN1, POMGNT1 (V185fs +2 more) | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy +1 more | |
| | POMGNT1, TSPAN1 (R311Q +2 more) | Single nucleotide variant (missense variant) | Muscle eye brain disease +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy | |
| | POMGNT1, TSPAN1 (P150fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R215* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more | |
| | POMGNT1, TSPAN1 (V191M +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more | |
| | TSPAN1, POMGNT1 (W206* +2 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (T45fs +2 more) | Microsatellite (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (H184Y +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +4 more | |
| | POMGNT1, TSPAN1 (T176P +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy | |
| | POMGNT1, TSPAN1 (R149* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (M160fs +2 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R129Q +1 more) | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R129W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | |
| | | Insertion (nonsense +2 more) | Muscular dystrophy-dystroglycanopathy | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy | |