| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | 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 (splice donor variant) | Bethlem myopathy 1B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Insertion (inframe insertion) | BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE | |
| | | Single nucleotide variant (nonsense) | BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Insertion (frameshift variant) | Bethlem myopathy 1A | |
| | | Duplication (frameshift variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | KRTAP10-4, KRTAP10-2 +44 more | Copy number loss | 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) | Collagen 6-related myopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not specified | |
| | KRTAP10-7, KRTAP10-8 +58 more | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | COL6A2-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | COL6A2-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Deletion (frameshift variant) | Bethlem myopathy 1A | |
| | | 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 (missense variant) | Bethlem myopathy 1A | |
| | | Deletion (splice acceptor variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense 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) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |