| | POMGNT1, TSPAN1 (E260fs +2 more) | Microsatellite (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Indel (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | TSPAN1, POMGNT1 (W212* +2 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (Q214* +2 more) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 76 +3 more | |
| | POMGNT1, TSPAN1 (T187fs +2 more) | Insertion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (F199fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (R345fs +2 more) | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (T116fs +2 more) | Microsatellite (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (W469* +2 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (Q341* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (E145* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | | Duplication | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Duplication (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (A223fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (I267fs +2 more) | Microsatellite (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (Q386* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (C419fs +2 more) | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (M334fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | POMGNT1, TSPAN1 (W323* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (W323* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | POMGNT1, TSPAN1 (G192* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (S173fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (A178fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (N380fs +2 more) | Duplication (frameshift variant) | Retinitis pigmentosa 76 +4 more | |
| | POMGNT1, TSPAN1 (P286H +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | POMGNT1, TSPAN1 (K394* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | |
| | POMGNT1, TSPAN1 (W308* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (I109fs +1 more) | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (C419* +2 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (S10* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (P102fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | TSPAN1, POMGNT1 (K205fs +2 more) | Indel (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (K376fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (E292fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (I194fs +2 more) | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (K230* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (W212* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (P339fs +2 more) | Indel (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | TSPAN1, POMGNT1 (R172fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | |
| | | Duplication (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (G286V +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (splice acceptor variant) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (I361fs +2 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (F565fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | POMGNT1, TSPAN1 (E541* +2 more) | Duplication (nonsense) | Retinitis pigmentosa 76 +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R354* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | POMGNT1, TSPAN1 (K230Q +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | POMGNT1, TSPAN1 (R124C +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | POMGNT1, TSPAN1 (P418S +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | POMGNT1, TSPAN1 (N158S +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R122C +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | POMGNT1, TSPAN1 (K219R +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | GConflicting classifications of pathogenicity |
| | TSPAN1, POMGNT1 (R462S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +4 more | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (G213R +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (R587Q +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | TSPAN1, POMGNT1 (R224H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +7 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R149Q +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more | |
| | POMGNT1, TSPAN1 (R299H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +6 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (K376fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | POMGNT1, TSPAN1 (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 (T431I +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
| | POMGNT1, TSPAN1 (T334fs +2 more) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R149* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (Q331* +2 more) | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |