| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Joubert Syndrome 24 (JBTS24, TCTN2) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 12q24.31 | Nonsense | TCTN2 | 1873C>T | Gln625* | Premature Termination | Sang et al., 2011/2011 |
