| | | Single nucleotide variant (missense variant +3 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more | |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal recessive limb-girdle muscular dystrophy +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | |
| | | Deletion (frameshift variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more | |
| | | Duplication (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +10 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +6 more | |