| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +9 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +11 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +8 more | |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +9 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta with normal sclerae, dominant form +13 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, arthrochalasia type +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormality of the skeletal system +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +8 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, arthrochalasia type +7 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +10 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta, perinatal lethal +10 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta, perinatal lethal +7 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Postmenopausal osteoporosis +9 more | |
| | | Single nucleotide variant (synonymous variant) | Osteoporosis +12 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, arthrochalasia type +7 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta +11 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +7 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, arthrochalasia type +8 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +10 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, arthrochalasia type +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +11 more | |
| | | Duplication (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +8 more | |
| | | Single nucleotide variant (missense variant) | COL1A1-related disorder +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +12 more | GPathogenic/Likely pathogenic |
| | LOC126862586, COL1A1 (G257R) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +10 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +9 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +8 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |