| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Meckel Syndrome (MKS3) | Autosomal Recessive | 8q24 | Splice site | MKS3 | 1575+1G>A | - | - | Khaddour et al., 2007/2007 | |
| Meckel Syndrome (MKS3) | Autosomal Recessive | 8q24 | Splice site | MKS3 | 870-2A>G | Khaddour et al., 2007/2007 |
