| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spondylocostal Dysostosis 1 (SCDO1, DLL3) | vertebral malsegmentation | Autosomal Recessive | 19q13.2 | Deletion | DLL3 | 945delAT | Frame shift mutation & PTC | 0/Bulman et al., 2000 | |
| Spondylocostal Dysostosis 1 (SCDO1, DLL3) | vertebral malsegmentation | Autosomal Recessive | 19q13.2 | Missense | DLL3 | 1154G>A | Gly385Asp | Amino Acid Substitution | 0/Bulman et al., 2000 |
| Spondylocostal Dysostosis 1 | vertebral malsegmentation | Autosomal Recessive | 19q13.2 | Substitution | DLL3 | c.535G>T; | p.Glu179Ter) | Missense | F Khan et al, 2023/2023 |
