| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cystinosis Nephropathic (CTNS) | Defective lysosomal transport of cystine | Autosomal Recessive | 17p13.2 | Nonsense | CTNS | 622G>A | Gly95* | Premature Termination | 0/Town et al., 1998 |
