| | | Deletion (5 prime UTR variant +2 more) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopathy, distal, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (intron variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, distal, 5 +1 more | |
| | | Deletion (splice acceptor variant) | Myopathy, distal, 5 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Myopathy, distal, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 5 | |
| | | Deletion (frameshift variant) | Myopathy, distal, 5 +3 more | GPathogenic/Likely pathogenic |
| | ADSS1, LOC130056631 (G13fs) | Duplication (frameshift variant) | Myopathy, distal, 5 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | ADSS1-related condition +2 more | GPathogenic/Likely pathogenic |