| | | Duplication (frameshift variant) | Cardiovascular phenotype +2 more | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more | |
| | | Deletion (inframe_deletion) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +21 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +4 more | |
| | | Deletion (frameshift variant) | Walker-Warburg congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +4 more | GPathogenic/Likely pathogenic |