| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, cardiac valvular type +5 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis with pseudoglioma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Postmenopausal osteoporosis | |
| | | Single nucleotide variant (splice donor variant) | Postmenopausal osteoporosis +1 more | |
| | | Single nucleotide variant (missense variant) | Postmenopausal osteoporosis | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL1A1-related condition +8 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta with normal sclerae, dominant form +7 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta with normal sclerae, dominant form +7 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Osteogenesis imperfecta type 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Postmenopausal osteoporosis | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +8 more | GConflicting classifications of pathogenicity |