| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | | Single nucleotide variant (missense variant) | Headache +20 more | GPathogenic/Likely pathogenic |
| | | 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) | Walker-Warburg congenital muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | 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) | Walker-Warburg congenital muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | Walker-Warburg congenital muscular dystrophy +3 more | GPathogenic/Likely pathogenic |