| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Foetal nephronophthisis (NPHP3) | Nephronophthisis 3 | Autosomal Recessive | 3q22.1 | Substitution | NPHP3 | c.424C>T | p. R142* | Nonsense | Abdullah et al., 2017/2017 |
