| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Single nucleotide variant (splice donor variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, arthrochalasia type +7 more | |
| | COL1A1, LOC126862586 (E288K) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, arthrochalasia type +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +9 more | |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +7 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +10 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +10 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |
| | | Single nucleotide variant (splice donor variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +2 more | |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +11 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +11 more | |
| | COL1A1, LOC126862586 (G257R) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, arthrochalasia type +10 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +8 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, arthrochalasia type +7 more | |
| | | Duplication (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Infantile cortical hyperostosis +9 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis +8 more | |
| | | Microsatellite (inframe_deletion) | Osteogenesis imperfecta +4 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +12 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +10 more | |
| | | Single nucleotide variant (intron variant) | not provided +11 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +13 more | |
| | | Single nucleotide variant (missense variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +9 more | |
| | | Single nucleotide variant (nonsense) | Infantile cortical hyperostosis +10 more | |
| | | Single nucleotide variant (missense variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +12 more | GPathogenic/Likely pathogenic |