| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermodysplasia Verruciformis (EV) 2 | persistent disseminated flat warts and pityriasis versicolor-like lessions | Autosomal Recessive | 17q25.3 | Substitution | TMC8 | c.668+5G>A | Splice error | Splice error | X Xiong et al., 2023/2023 |
