| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Reduced bone mineral density +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skeletal system +28 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta with normal sclerae, dominant form +4 more | |
| | COL1A1, LOC126862586 (E243*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |