NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)Pathogenic
not provided|Oculocutaneous albinism type 4|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;Oculocutaneous albinism type 4
★★☆☆2026→ Residue 389
NM_016180.5(SLC45A2):c.264del (p.Gly89fs)Pathogenic
Oculocutaneous albinism type 4|not provided|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR|SLC45A2-related disorder|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2026→ Residue 89
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)Pathogenic
Inborn genetic diseases|not provided|Oculocutaneous albinism type 4|SLC45A2-related disorder|Albinism or congenital nystagmus|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2026→ Residue 202
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser)Pathogenic
not provided|SLC45A2-related disorder|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;Oculocutaneous albinism type 4
★★☆☆2026→ Residue 122
NM_016180.5(SLC45A2):c.1471G>A (p.Gly491Arg)Pathogenic
Abnormal bleeding;Thrombocytopenia|not provided|Oculocutaneous albinism type 4
★★☆☆2025→ Residue 491
NM_016180.5(SLC45A2):c.802dup (p.Tyr268fs)Pathogenic
not provided|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2025→ Residue 268
NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;Oculocutaneous albinism type 4|Oculocutaneous albinism type 4
★★☆☆2025→ Residue 1
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)Pathogenic
Oculocutaneous albinism type 4|not provided|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2025→ Residue 425
NM_016180.5(SLC45A2):c.856C>T (p.Gln286Ter)Pathogenic
not provided
★★☆☆2025→ Residue 286
NM_016180.5(SLC45A2):c.265G>A (p.Gly89Arg)Likely pathogenic
not provided|Oculocutaneous albinism type 4
★★☆☆2025→ Residue 89
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)Pathogenic
not provided|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2025→ Residue 319
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)Pathogenic
Oculocutaneous albinism type 4|not provided
★★☆☆2025→ Residue 157
NM_016180.5(SLC45A2):c.386-1G>APathogenic
Oculocutaneous albinism type 4|not provided
★★☆☆2025
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)Pathogenic
Oculocutaneous albinism type 4|not provided|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;Oculocutaneous albinism type 4
★★☆☆2025→ Residue 359
NM_016180.5(SLC45A2):c.1156+1G>CPathogenic
not provided|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2025
NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu)Likely pathogenic
Inborn genetic diseases|not provided|SLC45A2-related disorder|Oculocutaneous albinism type 4
★★☆☆2025→ Residue 152
NM_016180.5(SLC45A2):c.305G>A (p.Arg102Gln)Pathogenic
not provided|Oculocutaneous albinism type 4
★★☆☆2025→ Residue 102
NM_016180.5(SLC45A2):c.1014del (p.Phe338fs)Pathogenic
not provided|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2025→ Residue 338
NM_016180.5(SLC45A2):c.1435del (p.Leu479fs)Pathogenic
not provided|Oculocutaneous albinism type 4|Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
★★☆☆2025→ Residue 479
NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn)Pathogenic
not provided|Oculocutaneous albinism type 4
★★☆☆2024→ Residue 93