| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA2, OCA2) | Yellowish white hair, Blue Iris | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | 1456G>T | Asp486Tyr | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA2, OCA2) | White Hair, White Skin, Blue Iris | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | 1580T>G | Leu527Arg | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA2, OCA2) | Brown Hair, White Skin | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | 2228C>T | Pro743Leu | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA2, OCA2) | Fair Skin, Brown Hair | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | 2359G>A | Ala787Thr | Missense | 0/Jaworek et al., 2012 |
| Oculocutaneous Albinism (OCA2, OCA2) | Hypopigmentation of the skin, white to yellow-white hair color, lightly pigmented eyes, reduced vision, iris transillumination, nystagmus, and photophobia | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | c.827T > A | p.(Val276Glu) | Missense | Sajid et al., 2021/2021 |
| Oculocutaneous Albinism (OCA2, OCA2) | Hypopigmentation of the skin, white to yellow-white hair color, lightly pigmented eyes, reduced vision, iris transillumination, nystagmus, and photophobia | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | c.877G > C | p.(Glu293Gln) | Missense | Sajid et al., 2021/2021 |
| Oculocutaneous Albinism (OCA2, OCA2) | Hypopigmentation of the skin, white to yellow-white hair color, lightly pigmented eyes, reduced vision, iris transillumination, nystagmus, and photophobia | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | c.954G > A | p.(Met318Ile) | Missense | Sajid et al., 2021/2021 |
| Oculocutaneous Albinism (OCA2, OCA2) | Hypopigmentation of the skin, white to yellow-white hair color, lightly pigmented eyes, reduced vision, iris transillumination, nystagmus, and photophobia | Autosomal Recessive | 15q12-q13.1 | Substitution | OCA2 | c.1456G > T | p.(Asp486Tyr) | Missense | Sajid et al., 2021/2021 |
| Oculocutaneous Albinism (OCA2, OCA2) | Albinism, oculocutaneous, type II | Autosomal Recessive | 15q12-q13.1 | Deletion | OCA2 | c.408_409delAA | p.Arg137Ilefs*83 | Frameshift and Premature stop codon | Khan et al., 2024/2024 |
