| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (G305R +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (G183D +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (S186F +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (A167P +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (R149Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | TSPAN1, POMGNT1 (M623L +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (R177H +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (L472I +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (T188A +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (R473W +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (P487R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (V368M +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (A451S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | POMGNT1, TSPAN1 (G309E +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | TSPAN1, POMGNT1 (K322N +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | POMGNT1, TSPAN1 (P241L +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | POMGNT1, TSPAN1 (D236N +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | TSPAN1, POMGNT1 (S280F +2 more) | Single nucleotide variant (missense variant) | Muscle eye brain disease | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +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 |
| | | Single nucleotide variant (synonymous variant) | POMGNT1-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (T431I +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | |
| | POMGNT1, TSPAN1 (K499E +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (H535N +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (P615L +2 more) | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | POMGNT1, TSPAN1 (R147C +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more | |
| | POMGNT1, TSPAN1 (S543T +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (V378L +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | POMGNT1, TSPAN1 (V483I +2 more) | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | POMGNT1, TSPAN1 (V143M +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | POMGNT1, TSPAN1 (I642F +3 more) | Single nucleotide variant (missense variant) | 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 +1 more | |
| | POMGNT1, TSPAN1 (F566S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | TSPAN1, POMGNT1 (T140M +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (E251D +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | POMGNT1, TSPAN1 (R265P +2 more) | Single nucleotide variant (missense variant) | Muscle eye brain disease | |
| | POMGNT1, TSPAN1 (R129W +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Muscle eye brain disease | |
| | | Single nucleotide variant (splice donor variant) | Muscle eye brain disease +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Muscle eye brain disease | |
| | | Duplication (inframe_insertion) | Muscle eye brain disease | |
| | | Single nucleotide variant (intron variant +1 more) | Muscle eye brain disease +2 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (K492fs +3 more) | Deletion (frameshift variant) | Muscle eye brain disease | |
| | | Duplication (frameshift variant +1 more) | Muscle eye brain disease | |
| | TSPAN1, POMGNT1 (L614del +2 more) | Deletion (inframe_deletion) | Muscle eye brain disease | |
| | | Microsatellite (inframe_deletion +1 more) | Muscle eye brain disease | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Muscle eye brain disease | |
| | POMGNT1, TSPAN1 (K649N +3 more) | Single nucleotide variant (nonsense +1 more) | Muscle eye brain disease | |
| | | Deletion (frameshift variant +1 more) | Muscle eye brain disease | |
| | | Insertion (intron variant) | Muscle eye brain disease | |
| | POMGNT1, TSPAN1 (G505S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Muscle eye brain disease +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Muscle eye brain disease | |
| | | Single nucleotide variant (splice donor variant) | Muscle eye brain disease +2 more | |
| | | Deletion (nonsense +1 more) | Muscle eye brain disease | |
| | POMGNT1, TSPAN1 (K618* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscle eye brain disease +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscle eye brain disease +2 more | |
| | POMGNT1, TSPAN1 (S153* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | |
| | POMGNT1, TSPAN1 (L622P +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Muscle eye brain disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscle eye brain disease | |