| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA1, TYR) | Brown Hair, Pinkish Skin, Grey/Brown Iris, | Autosomal Recessive | 11q14.3 | Substitution | TYR | 62C>T | Pro21Leu | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | White Hair, Pinkish Skin, Grey/Blue Iris | Autosomal Recessive | 11q14.3 | Substitution | TYR | 103T>C | Cys35Arg | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | Brown Hair, White Skin, Foveal Hypoplasia | Autosomal Recessive | 11q14.3 | Substitution | TYR | 896A>G | Arg299His | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | Yellwo Hair, White Skin and Light Grey Iris | Autosomal Recessive | 11q14.3 | Substitution | TYR | 1217C>T | Pro406Leu | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | White Hair, White Skin and Grey/Blue Iris | Autosomal Recessive | 11q14.3 | Substitution | TYR | 1255G>A | Gly419Arg | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | White Hair, Pinkish White Skin and Grey/Blue Iris | Autosomal Recessive | 11q14.3 | Substitution | TYR | 1231T>C | Tyr411His | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | White Hair, White Skin and Light Brown Iris | Autosomal Recessive | 11q14.3 | Substitution | TYR | 832C>T | Arg278* | Nonsense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA1, TYR) | Hypopigmentation of the skin, white to yellow-white hair color, lightly pigmented eyes, reduced vision, iris transillumination, nystagmus, and photophobia | Autosomal Recessive | 11q14.3 | Substitution | TYR | c.649C > T | p.(Arg217Trp) | Missense | Sajid et al., 2021/2021 |
| Oculocutaneous Albinism (OCA1, TYR) | Hypopigmentation of the skin, white to yellow-white hair color, lightly pigmented eyes, reduced vision, iris transillumination, nystagmus, and photophobia | Autosomal Recessive | 11q14.3 | Substitution | TYR | c.1037G > T | p.(Gly346Val) | Missense | Sajid et al., 2021/2021 |
| Oculocutaneous Albinism (OCA1, TYR) | Albinism, oculocutaneous, type IA | Autosomal Recessive | 11q14.3 | Substitution | TYR | c.667C > T | p.(Gln223*) | Nonsense | Khan et al., 2024/2024 |
| Oculocutaneous Albinism (OCA1, TYR) | Albinism, oculocutaneous, type IA | Autosomal Recessive | 11q14.3 | Substitution | TYR | c.132 T?>?A | p.Ser44Arg | Missense | Khan et al., 2024/2024 |
| Oculocutaneous Albinism (OCA1, TYR) | Albinism, oculocutaneous, type IA | Autosomal Recessive | 11q14.3 | Substitution | TYR | c.1280T>C | p.V427A | Missense | Kaul et al., 2025/2025 |
