| | POMGNT1, TSPAN1 (R613S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | POMGNT1, TSPAN1 (K395R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (intron variant) | POMGNT1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | POMGNT1-related condition | |
| | | Deletion (intron variant) | POMGNT1-related condition | |
| | POMGNT1, TSPAN1 (V145I +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | POMGNT1, TSPAN1 (K128R +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | POMGNT1, TSPAN1 (F435C +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | POMGNT1, TSPAN1 (K440R +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | POMGNT1, TSPAN1 (G634D +1 more) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | | 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 (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 (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 (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 (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (P148S +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 | |
| | | Single nucleotide variant (synonymous 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 (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 | |
| | | Deletion (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 (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 (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (Y315* +2 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Microsatellite (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 (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 (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 | |
| | | Deletion (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | POMGNT1, TSPAN1 (D100fs +2 more) | Deletion (frameshift 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 (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 (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 +1 more | |
| | POMGNT1, TSPAN1 (V576fs +2 more) | Deletion (frameshift 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 (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 (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 | |
| | | Duplication (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 +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Deletion (splice acceptor 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 (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 (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (N538fs +2 more) | Deletion (frameshift 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 (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 | |
| | | Deletion (intron 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 +1 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 (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 | |
| | POMGNT1, TSPAN1 (H120fs +1 more) | Deletion (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (L179fs +2 more) | Microsatellite (frameshift 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) | 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 (intron 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 (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 (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | POMGNT1, TSPAN1 (W469* +2 more) | Single nucleotide variant (nonsense) | 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 +1 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more | |
| | | Single nucleotide variant (splice acceptor 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 (intron 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 | |
| | POMGNT1, TSPAN1 (W234fs +2 more) | Deletion (frameshift 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 +1 more | |