| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Meckel Syndrome (MKS1) | Autosomal Recessive | 17q23 | Duplication | MKS1 | 1448_1451dupCAGG | Gly484Glyfs*108 | Frame shift mutation & PTC | Khaddour et al., 2007/2007 |
