| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA4, SLC45A2) | Pinkish white Skin, Brown Hair, Grey Iris | Autosomal Recessive | 5p13.2 | Substitution | SLC45A2 | 251T>C | Leu84Pro | Missense | 0/Kausar et al., 2013 |
| Oculocutaneous Albinism (OCA4, SLC45A2) | White Hair, Pinkish White Skin, Grey/Brown Iris | Autosomal Recessive | 5p13.2 | Substitution | SLC45A2 | 1532C>T | Ala511Val | Missense | 0/Kausar et al., 2013 |
| Oculocutaneous Albinism (OCA4, SLC45A2) | Brown Hair, White Skin, Grey Iris | Autosomal Recessive | 5p13.2 | Substitution | SLC45A2 | 889-6T>G | - | Splicing Error | 0/Kausar et al., 2013 |
