| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC130057269, SNX22 (P16L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057269, SNX22 (R17T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057269, SNX22 (E21K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057270, SNX22 (H51R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (3 prime UTR variant +1 more) | Osteogenesis Imperfecta, Recessive +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Osteogenesis Imperfecta, Recessive +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Osteogenesis Imperfecta, Recessive +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) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +2 more) | Osteogenesis imperfecta type 9 | |
| | | Deletion (frameshift variant +2 more) | not provided +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) | not provided +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 (missense variant +2 more) | Inborn genetic diseases | |
| | | 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 +1 more | |
| | | Duplication (inframe_indel +3 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) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Deletion | not provided | |
| | | Duplication | Bloom syndrome +1 more | |
| | | Deletion | Nemaline myopathy 6 | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |