| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Indel (nonsense) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, arthrochalasia type +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Deletion (frameshift variant) | COL1A1-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I +7 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | COL1A1, LOC126862586 (G257R) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, arthrochalasia type +10 more | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type I | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type I | |