NM_000372.5(TYR):c.140G>A (p.Gly47Asp)Pathogenic
Oculocutaneous albinism type 1A|Oculocutaneous albinism type 1B|not provided|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;Ocular albinism with congenital sensorineural hearing loss|Inborn genetic diseases|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|Oculocutaneous albinism|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 47
NM_000372.5(TYR):c.1037-7T>APathogenic
not provided|Oculocutaneous albinism type 1A|Oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Albinism;Nystagmus;Myopia|Oculocutaneous albinism type 1B|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|Abnormality of the skin|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|See cases|TYR-related disorder|Albinism or congenital nystagmus|Inborn genetic diseases
★★☆☆2026
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)Pathogenic
not provided|Oculocutaneous albinism type 1A|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 217
NM_000372.5(TYR):c.816G>C (p.Trp272Cys)Pathogenic
not provided|Oculocutaneous albinism
★★☆☆2026→ Residue 272
NM_000372.5(TYR):c.823G>T (p.Val275Phe)Pathogenic
Oculocutaneous albinism type 1B|not provided|Oculocutaneous albinism type 1A|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|TYR-related disorder|Albinism or congenital nystagmus|Inborn genetic diseases
★★☆☆2026→ Residue 275
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)Pathogenic
Oculocutaneous albinism type 1A|not provided|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|Oculocutaneous albinism type 1B|TYR-related disorder|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 373
NM_000372.5(TYR):c.773_774del (p.Thr258fs)Pathogenic
not provided|Oculocutaneous albinism type 1B|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 258
NM_000372.5(TYR):c.649del (p.Arg217fs)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 217
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)Pathogenic
Oculocutaneous albinism type 1A|not provided|Albinism|Oculocutaneous albinism|Inborn genetic diseases|Oculocutaneous albinism type 1B|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|Oculocutaneous albinism type 1
★★☆☆2026→ Residue 81
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)Pathogenic
Albinism|not provided|Oculocutaneous albinism type 1A|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 422
NM_000372.5(TYR):c.1357C>T (p.Gln453Ter)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
★★☆☆2026→ Residue 453
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)Pathogenic
Oculocutaneous albinism type 1A|not provided|Oculocutaneous albinism type 1B|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|See cases|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|Oculocutaneous albinism|Albinism or congenital nystagmus|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2026→ Residue 77
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)Pathogenic
Oculocutaneous albinism type 1A|not provided|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|TYR-related disorder
★★☆☆2026→ Residue 371
NM_000372.5(TYR):c.572del (p.Gly191fs)Pathogenic
Oculocutaneous albinism type 1A|not provided|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism
★★☆☆2026→ Residue 191
NM_000372.5(TYR):c.255T>A (p.Tyr85Ter)Pathogenic
not provided
★★☆☆2026→ Residue 85
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)Pathogenic
Oculocutaneous albinism type 1A|not provided|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|Oculocutaneous albinism type 1
★★☆☆2025→ Residue 403
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)Pathogenic
Oculocutaneous albinism type 1A|not provided|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;Ocular albinism with congenital sensorineural hearing loss|Nonsyndromic Oculocutaneous Albinism|Inborn genetic diseases|Oculocutaneous albinism|TYR-related disorder|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2025→ Residue 383
NM_000372.5(TYR):c.1037-1G>APathogenic
not provided|Oculocutaneous albinism type 1A|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder
★★☆☆2025
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)Pathogenic
Oculocutaneous albinism type 1A|not provided|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B
★★☆☆2025→ Residue 244
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)Pathogenic
not provided|Oculocutaneous albinism type 1A|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;Ocular albinism with congenital sensorineural hearing loss;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Oculocutaneous albinism
★★☆☆2025→ Residue 116