| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) | Skin and Hair Hypopigmentation | Autosomal Recessive | 16q24.3 | Deletion | MC1R | 520_523delGTC | Val174del | 0/Shahzad et al., 2015 | |
| Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) | Skin and Hair Hypopigmentation | Autosomal Recessive | 16q24.3 | Missense | MC1R | 515G>T | Ser172Ile | Amino Acid Substitution | 0/Shahzad et al., 2015 |
| Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) | Skin and Hair Hypopigmentation | Autosomal Recessive | 16q24.3 | Missense | MC1R | 512C>G | Ala171Gly | Amino Acid Substitution | 0/Shahzad et al., 2015 |
| Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) | Skin and Hair Hypopigmentation | Autosomal Recessive | 16q24.3 | Missense | MC1R | 265G>C | Gly89Arg | Amino Acid Substitution | 0/Shahzad et al., 2015 |
| Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) | Skin and Hair Hypopigmentation | Autosomal Recessive | 16q24.3 | Missense | MC1R | 880G>C | Asp294His | Amino Acid Substitution | 0/Shahzad et al., 2015 |
| Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) | Skin and Hair Hypopigmentation | Autosomal Recessive | 16q24.3 | Nonsense | MC1R | 894C>G | Tyr298* | Premature Termination | 0/Shahzad et al., 2015 |
