| | | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Duplication (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Inversion (splice acceptor variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Duplication (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Duplication (inframe_insertion) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (nonsense) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Duplication (frameshift variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |