| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| UV-Sensitive Syndrome (UVSSA) | photosensitivity, and hyperpigmentation, freckling, and dryness of sun exposed areas | Autosomal Recessive | 4p16.3 | nonsense mutation | UVSSA | 1040G>A | Trp347* | Pre-mature Termination | Ijaz et al., 2019/2019 |
