| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nephronophthisis(NPHP1) | polyuria,polydipsia,nocturnal enuresis | Autosomal Recessive | 2q13 | Nonsense Mutation | NPHP1 | 1363 C>T | R455X | Truncated Protein | 0/Hussain S,et.al,...2018 |
