| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Microsatellite (frameshift variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +2 more | |
| | | Deletion (nonsense) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type III +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta, perinatal lethal +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +5 more | |
| | | Duplication (inframe_insertion) | Osteogenesis imperfecta type III | |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +9 more | |
| | COL1A1, LOC126862586 (G260D) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type III +1 more | GPathogenic/Likely pathogenic |