| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +10 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | |
| | | Single nucleotide variant (synonymous variant) | Walker-Warburg congenital muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | FKRP-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | Walker-Warburg congenital muscular dystrophy +3 more | GPathogenic/Likely pathogenic |