NM_000550.3(TYRP1):c.1261+1G>APathogenic
Oculocutaneous albinism type 3|Albinism|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β
β
ββ2026
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)Pathogenic
Oculocutaneous albinism type 3|Albinism|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β
β
ββ2026β Residue 368
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)Pathogenic
Oculocutaneous albinism type 3|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR|TYRP1-related disorder
β
β
ββ2026β Residue 353
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR|Oculocutaneous albinism type 3
β
β
ββ2025β Residue 117
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)Pathogenic
Oculocutaneous albinism type 3|ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF|not provided|TYRP1-related disorder|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β
β
ββ2025β Residue 166
NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β
β
ββ2025β Residue 261
NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR|TYRP1-related disorder
β
β
ββ2025β Residue 140
NM_000550.3(TYRP1):c.721G>T (p.Glu241Ter)Pathogenic
not provided
β
β
ββ2025β Residue 241
NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter)Pathogenic
not provided
β
β
ββ2024β Residue 438
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)Pathogenic
Oculocutaneous albinism type 3|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β
β
ββ2024β Residue 374
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)Pathogenic
TYRP1-related disorder|not provided|MELANESIAN BLOND HAIR;Oculocutaneous albinism type 3
β
β
ββ2024β Residue 59
NM_000550.3(TYRP1):c.859C>T (p.Arg287Ter)Pathogenic
Oculocutaneous albinism type 3|not provided
β
β
ββ2024β Residue 287
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)Likely pathogenic
Oculocutaneous albinism type 3|MELANESIAN BLOND HAIR;Oculocutaneous albinism type 3
β
β
ββ2024β Residue 30
NM_000550.3(TYRP1):c.570G>A (p.Trp190Ter)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β
β
ββ2024β Residue 190
NM_000550.3(TYRP1):c.385+1G>CPathogenic
not provided
β
β
ββ2024
NM_000550.3(TYRP1):c.913+2T>GPathogenic
not provided|Oculocutaneous albinism type 3
β
β
ββ2023
NM_000550.3(TYRP1):c.421_425del (p.Lys141fs)Pathogenic
not provided
β
β
ββ2023β Residue 141
NM_000550.3(TYRP1):c.1200del (p.Phe400fs)Pathogenic
not provided
β
β
ββ2022β Residue 400
NM_000550.3(TYRP1):c.1166del (p.Gly389fs)Pathogenic
not provided
β
βββ2025β Residue 389
NM_000550.3(TYRP1):c.195T>A (p.Cys65Ter)Pathogenic
not provided
β
βββ2025β Residue 65