| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 27 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Dystonia 27 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A +1 more | |
| | | Single nucleotide variant (intron variant) | Collagen 6-related myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |