| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cerebrotendinous Xanthomatosis (CTX, CYP27) | Lipid storage & neurologic problems | Autosomal Recessive | 2q35 | Nonsense | CYP27 | 237C>T | Arg79* | Premature Termination | 0/Ahmed et al., 1997 |
