| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Variation (no sequence alteration) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (nonsense) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +4 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Single nucleotide variant (missense variant) | COL1A2-related condition | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +9 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, arthrochalasia type +7 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, arthrochalasia type +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +9 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta, perinatal lethal +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, cardiac valvular type +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +5 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +5 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type III +5 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +5 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +5 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, arthrochalasia type +5 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +8 more | |
| | | Single nucleotide variant (missense variant) | Postmenopausal osteoporosis +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +10 more | |
| | | Deletion (splice donor variant) | Osteogenesis imperfecta, perinatal lethal +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, cardiac valvular type +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skeletal system +1 more | |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +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 (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |