| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Joubert Syndrome 3 (AHI1) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 6q23.3 | Duplication | AHI1 | 2370dup | Lys791* | Premature Termination | Utsch et al., 2006/2006 |
| Joubert Syndrome 3 (JBTS3, AHI1) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 6q23.3 | Nonsense | AHI1 | 2370dup | Lys791* | Premature Termination | Utsch et al., 2006/2006 |
