| | | Single nucleotide variant (intron variant) | Osteoporosis | |
| | | Single nucleotide variant (nonsense) | Osteoporosis | |
| | | Single nucleotide variant (missense variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Worth disease +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Duplication (intron variant) | Worth disease +8 more | |
| | | Single nucleotide variant (synonymous variant) | Osteoporosis +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Microsatellite (intron variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta, recessive perinatal lethal +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (intron variant) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (synonymous variant) | Polycystic liver disease 4 with or without kidney cysts +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +9 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (missense variant) | Worth disease +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Worth disease +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant osteopetrosis 1 +9 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Exudative vitreoretinopathy 4 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis with pseudoglioma +8 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis with pseudoglioma +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Microsatellite (5 prime UTR variant +1 more) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Worth disease +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Osteoporosis | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (nonsense) | Infantile cortical hyperostosis +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, recessive perinatal lethal +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +9 more | |
| | | Single nucleotide variant (synonymous variant) | Osteoporosis with pseudoglioma +8 more | |
| | | Microsatellite (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Worth disease +8 more | |
| | | Single nucleotide variant (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Worth disease +8 more | |
| | | Single nucleotide variant (intron variant) | Worth disease +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Worth disease +8 more | |
| | | Single nucleotide variant (intron variant) | Worth disease +8 more | |