NM_000275.3(OCA2):c.1080C>T (p.Ser360=)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|Albinism or congenital nystagmus
β
β
ββ2026β Residue 360
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|Inborn genetic diseases|See cases|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Albinism or congenital nystagmus
β
β
ββ2026β Residue 443
NM_000275.3(OCA2):c.1503+5G>APathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β
β
ββ2026
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β
β
ββ2026β Residue 450
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism
β
β
ββ2026β Residue 734
NM_000275.3(OCA2):c.1182+1G>APathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β
β
ββ2026
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Oculocutaneous albinism
β
β
ββ2026β Residue 489
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Inborn genetic diseases
β
β
ββ2026β Residue 207
NM_000275.3(OCA2):c.131del (p.Gly44fs)Pathogenic
Inborn genetic diseases|not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β
β
ββ2026β Residue 44
NM_000275.3(OCA2):c.157del (p.Arg53fs)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β
β
ββ2026β Residue 53
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg)Pathogenic
not provided|Inborn genetic diseases|Oculocutaneous albinism
β
β
ββ2026β Residue 775
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β
β
ββ2026β Residue 527
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism
β
β
ββ2026β Residue 334
NM_000275.3(OCA2):c.808-3C>GPathogenic
Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β
β
ββ2026
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Nonsyndromic Oculocutaneous Albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Oculocutaneous albinism
β
β
ββ2026β Residue 743
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr)Pathogenic
not provided
β
β
ββ2026β Residue 793
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β
β
ββ2026β Residue 211
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)Pathogenic
Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|not provided
β
β
ββ2026β Residue 195
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)Likely pathogenic
Oculocutaneous albinism|not provided|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β
β
ββ2025β Residue 739
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β
β
ββ2025β Residue 726