| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Osteogenesis Imperfecta, Recessive | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Duplication (3 prime UTR variant +1 more) | Osteogenesis Imperfecta, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | PPIB-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +2 more) | Osteogenesis imperfecta type 9 | |
| | | Deletion (frameshift variant +2 more) | Osteogenesis imperfecta +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Osteogenesis imperfecta type 9 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Osteogenesis imperfecta type 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (inframe_insertion +2 more) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Osteogenesis imperfecta type 9 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PPIB-related condition | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | PPIB-related condition | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |