| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nephrotic Syndrome (CRB2) | hypercholesterolemia, hypoalbuminemia, proteinuria, and peripheral edema. | Autosomal Recessive | 9q33.3 | Splice Site | CRB2 | c.941-3C>T | The mis-splicing is predicted to cause retention of intron 5 in the CRB2 mature mRNA | Simaab et al., 2022/2022 |
