| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nephronophthisis(CC2D2A) | NPHP | Autosomal Recessive | 4p15.32 | Substitution | CC2D2A | c.2161C>T | p.P721S | Missense | Otto et al., 2011/2011 |
