| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 5 | |
| | | Deletion (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (stop lost) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (nonsense) | Spondylocostal dysostosis 5 | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (intron variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (nonsense) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Scoliosis +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (intron variant) | Spondylocostal dysostosis 5 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +2 more | |
| | | Deletion (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Deletion | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (nonsense) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (stop lost) | Spondylocostal dysostosis 5 | |