| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Duplication (frameshift variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (splice donor variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Deletion | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (nonsense) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (nonsense) | Ullrich congenital muscular dystrophy 1 | |
| | | Deletion (frameshift variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (nonsense) | Ullrich congenital muscular dystrophy 1 | |
| | | Deletion (frameshift variant) | Ullrich congenital muscular dystrophy 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ullrich congenital muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ullrich congenital muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Deletion (frameshift variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Deletion (frameshift variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Microsatellite (splice donor variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (nonsense) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (nonsense) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Microsatellite (nonsense) | Ullrich congenital muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (splice donor variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 | |
| | | Deletion (frameshift variant) | Ullrich congenital muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bethlem myopathy 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 27 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Bethlem myopathy 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myosclerosis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | COL6A3-related condition | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bethlem myopathy 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | COL6A3-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1 +2 more | GConflicting classifications of pathogenicity |