| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Joubert Syndrome 5 (JBTS5, CEP290) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 12q21.32 | Nonsense | CEP290 | 5668G>T | Gly1890* | Premature Termination | Sayer et al., 2006/2006 |
