| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Acanthosis Nigricans IFAN (INSR) | Noninflamed,thick,brown-black pigments | Autosomal Recessive | 19p13.3?p13.2 | Missense | INSR | 659C>T | Pro220Leu | Amino Acid Substitution | 0/Ahmad et al., 2013 |