| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Joubert Syndrome 8 (ARL13B) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 3q11.1-q11.2 | Missense | ARL13B | 236G>A | Arg79Gln | Amino Acid Substitution | Cantagrel et al., 2008/2008 |
| Joubert Syndrome 8 (JBTS8, ARL13B) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 3q11.1-q11.2 | Missense | ARL13B | 236G>A | Arg79Gln | Amino Acid Substitution | Cantagrel et al., 2008/2008 |
