| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | COL6A3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (missense variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (intron variant) | Muscle tissue disorder | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | Bethlem myopathy 1C | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy | |
| | | Single nucleotide variant (synonymous variant) | Collagen 6-related myopathy | |
| | | Single nucleotide variant (synonymous variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (missense variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | COL6A3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | COL6A3, LOC126806573 (M2975L +4 more) | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |