| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +3 more | |
| | | Single nucleotide variant (missense variant) | COL12A1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 2 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | COL12A1-related disorder +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 2 +1 more | |