| | | Single nucleotide variant (splice acceptor variant) | Bruck syndrome 1 +1 more | |
| | | Duplication (frameshift variant) | Bruck syndrome 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bruck syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | Bruck syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | Bruck syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Bruck syndrome 1 +1 more | |
| | | Indel (frameshift variant) | Osteogenesis imperfecta type 11 | |
| | | Indel (frameshift variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 | |
| | | Deletion (splice donor variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Duplication (nonsense) | Bruck syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | See cases +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 +2 more | |
| | | Duplication (intron variant) | Osteogenesis imperfecta type 11 +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +2 more | |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 11 +3 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +3 more | |