| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA1, TYR) | Depigmented Hair, Skin and Retinal Epithelium | Autosomal Recessive | 11q14.3 | Deletion | TYR | 943_948delTCAGCT | S315_A316del | In-frame deletion | 0/Forshew et al., 2005 |
| Oculocutaneous Albinism (OCA1, TYR) | Depigmented Hair, Skin and Retinal Epithelium | Autosomal Recessive | 11q14.3 | Substitution and Deletion | TYR | 832C>T/ 943_948delTCAGCT | R278X/ S315_A316del | Compound Heterozygous | 0/Forshew et al., 2005 |
| Oculocutaneous Albinism (OCA1, TYR) | Depigmented Hair, Skin and Retinal Epithelium | Autosomal Recessive | 11q14.3 | Substitution | TYR | C1126T | Q376X | Nonsense | 0/Tripathi et al., 1993 |
| Oculocutaneous Albinism (OCA1, TYR) | Depigmented Hair, Skin and Retinal Epithelium | Autosomal Recessive | 11q14.3 | Substitution | TYR | 982G>C | E328Q | Missense | 0/Tripathi et al., 1993 |
