| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 8 | Bardet-Biedl Syndrome | Autosomal Recessive | 14q31.3 | Splice site | TTC8 | IVS10+2_4delTGC | Frame shift mutation & PTC | Ansley et al. 2003/2013 |
