SLC45A2 — 635 ClinVar variants

All ClinVar germline SLC45A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 236 flagged for review →

61 Pathogenic · 18 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 46 Conflicting · 16 Benign · 5 Benign/Likely benign · 232 Likely benign · 223 Uncertain significance

Full SLC45A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 236

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SLC45A2 p.Asn122Ser Pathogenic/Likely pathogenic Multiple submitters
SLC45A2-related disorder
SLC45A2 p.Glu368Lys Likely pathogenic Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Pro419Leu Pathogenic/Likely pathogenic Multiple submitters
SLC45A2-related disorder
SLC45A2 p.Arg101His Likely pathogenic Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Gly502Arg Likely pathogenic Single submitter
SLC45A2 p.Met37Lys Likely pathogenic Single submitter
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR

Predictors agree, ClinVar conflicts 23

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC45A2 p.Ala486Val Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Arg102Trp Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Arg318Leu Conflicting Single submitter
SLC45A2 p.Cys229Tyr Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Glu267Lys Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Gly188Asp Conflicting Single submitter
SLC45A2-related disorder
SLC45A2 p.Gly198Asp Conflicting Single submitter
Pigmentary skin disorders
SLC45A2 p.Gly248Asp Conflicting Single submitter
Inborn genetic diseases
SLC45A2 p.Gly432Asp Conflicting Single submitter
Inborn genetic diseases
SLC45A2 p.Gly64Asp Conflicting Single submitter
Inborn genetic diseases
SLC45A2 p.Ile326Asn Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Leu207Val Conflicting Single submitter
SLC45A2 p.Leu332Pro Conflicting Single submitter
SLC45A2-related disorder
SLC45A2 p.Leu361Pro Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Leu485Pro Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC45A2 p.Pro104Ser Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Pro259Leu Conflicting Single submitter
Inborn genetic diseases
SLC45A2 p.Pro442Leu Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Ser382Leu Conflicting Single submitter
SLC45A2-related disorder
SLC45A2 p.Ser92Gly Conflicting Single submitter
SLC45A2-related disorder
SLC45A2 p.Thr339Arg Conflicting Single submitter
Inborn genetic diseases
SLC45A2 p.Tyr166Cys Conflicting Single submitter
Inborn genetic diseases
SLC45A2 p.Val506Ile Conflicting Single submitter
oculocutaneous albinism type 4

Predictors lean, ClinVar uncertain 152

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 152

SLC45A2 p.Ala460Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Ala460Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Ala523Thr Uncertain significance Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC45A2 p.Arg101Cys Uncertain significance Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC45A2 p.Arg298Cys Uncertain significance Multiple submitters
SLC45A2 p.Arg298Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Arg348Cys Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Arg451Cys Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Arg451His Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Asn420Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Asp18Val Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Glu282Asp Uncertain significance Multiple submitters
SLC45A2 p.Glu364Lys Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Glu452Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Gly100Ser Uncertain significance Multiple submitters
SLC45A2 p.Gly269Val Uncertain significance Multiple submitters
SLC45A2 p.His293Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.His94Asp Uncertain significance Multiple submitters
SLC45A2 p.Ile517Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Leu524Phe Uncertain significance Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC45A2 p.Lys29Arg Uncertain significance Multiple submitters
SLC45A2 p.Lys29Glu Uncertain significance Multiple submitters
SLC45A2 p.Lys304Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Met265Leu Uncertain significance Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC45A2 p.Met301Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Met40Val Uncertain significance Multiple submitters
SLC45A2 p.Met482Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Pro78Thr Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Thr254Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Thr329Ile Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Thr339Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Thr403Met Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Thr510Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Tyr422His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Val367Ile Uncertain significance Multiple submitters
SLC45A2 p.Val504Ile Uncertain significance Multiple submitters
SLC45A2 p.Val59Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Val73Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Ala124Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ala132Val Uncertain significance Single submitter
SLC45A2 p.Ala141Ser Uncertain significance Single submitter
SLC45A2 p.Ala155Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ala156Val Uncertain significance Single submitter
SLC45A2 p.Ala192Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ala240Val Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ala330Gly Uncertain significance Single submitter
SLC45A2 p.Ala501Asp Uncertain significance Single submitter
SLC45A2 p.Ala50Thr Uncertain significance Single submitter
SLC45A2 p.Ala50Val Uncertain significance Single submitter
SLC45A2 p.Arg101Gly Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Arg135Gly Uncertain significance Single submitter
SLC45A2 p.Arg209Lys Uncertain significance Single submitter
SLC45A2 p.Arg298His Uncertain significance Single submitter
SLC45A2 p.Arg348His Uncertain significance Single submitter
SLC45A2 p.Arg457Lys Uncertain significance Single submitter
SLC45A2 p.Arg96Pro Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Asn276Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Asn290Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Asn290Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Asn377Lys Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Asp18Asn Uncertain significance Single submitter
SLC45A2 p.Asp18His Uncertain significance Single submitter
SLC45A2 p.Asp257Asn Uncertain significance Single submitter
SLC45A2 p.Asp350Gly Uncertain significance Single submitter
SLC45A2 p.Asp464Tyr Uncertain significance Single submitter
SLC45A2 p.Cys235Arg Uncertain significance Single submitter
SLC45A2 p.Cys519Phe Uncertain significance Single submitter
SLC45A2 p.Cys519Tyr Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Gln252Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Gln253Glu Uncertain significance Single submitter
SLC45A2 p.Gln344Arg Uncertain significance Single submitter
SLC45A2 p.Gln487Leu Uncertain significance Single submitter
SLC45A2 p.Glu177Lys Uncertain significance Single submitter
SLC45A2 p.Glu267Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Glu448Asp Uncertain significance Single submitter
SLC45A2 p.Glu456Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Gly110Arg Uncertain significance Single submitter
SLC45A2 p.Gly148Asp Uncertain significance Single submitter
SLC45A2 p.Gly366Arg Uncertain significance Single submitter
SLC45A2 p.Gly370Glu Uncertain significance Single submitter
SLC45A2 p.Gly399Ala Uncertain significance Single submitter
SLC45A2 p.Gly404Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Gly413Arg Uncertain significance Single submitter
SLC45A2 p.Gly462Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Gly473Asp Uncertain significance Single submitter
SLC45A2 p.Gly473Ser Uncertain significance Single submitter
SLC45A2 p.Gly493Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Gly64Val Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.His11Arg Uncertain significance Single submitter
SLC45A2 p.His204Arg Uncertain significance Single submitter
SLC45A2 p.His204Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.His204Tyr Uncertain significance Single submitter
SLC45A2 p.His94Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.His94Leu Uncertain significance Single submitter
SLC45A2 p.Ile200Met Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ile237Val Uncertain significance Single submitter
SLC45A2 p.Ile249Leu Uncertain significance Single submitter
SLC45A2 p.Ile362Val Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ile36Met Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ile395Phe Uncertain significance Single submitter
SLC45A2 p.Ile446Val Uncertain significance Single submitter
SLC45A2 p.Ile488Ser Uncertain significance Single submitter
SLC45A2 p.Leu107His Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Leu114Phe Uncertain significance Single submitter
SLC45A2 p.Leu16Val Uncertain significance Single submitter
SLC45A2 p.Leu383Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Leu479Val Uncertain significance Single submitter
SLC45A2 p.Leu489Val Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Leu60Arg Uncertain significance Single submitter
SLC45A2 p.Lys247Arg Uncertain significance Single submitter
SLC45A2 p.Lys291Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Lys29Thr Uncertain significance Single submitter
SLC45A2 p.Lys398Asn Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Lys472Arg Uncertain significance Single submitter
SLC45A2 p.Met146Leu Uncertain significance Single submitter
SLC45A2 p.Met285Ile Uncertain significance Single submitter
SLC45A2 p.Phe230Leu Uncertain significance Single submitter
SLC45A2 p.Pro21Ser Uncertain significance Single submitter
SLC45A2 p.Pro258Leu Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Pro314Leu Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Pro351Thr Uncertain significance Single submitter
SLC45A2 p.Pro461Ser Uncertain significance Single submitter
SLC45A2 p.Pro58Ala Uncertain significance Single submitter
SLC45A2 p.Pro86Ser Uncertain significance Single submitter
SLC45A2 p.Ser15Phe Uncertain significance Single submitter
SLC45A2 p.Ser222Cys Uncertain significance Single submitter
SLC45A2 p.Ser222Tyr Uncertain significance Single submitter
SLC45A2 p.Ser323Arg Uncertain significance Single submitter
SLC45A2 p.Ser353Asn Uncertain significance Single submitter
SLC45A2 p.Ser5Gly Uncertain significance Single submitter
SLC45A2 p.Ser62Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Ser67Thr Uncertain significance Single submitter
SLC45A2 p.Thr329Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Thr329Arg Uncertain significance Single submitter
SLC45A2 p.Thr437Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Thr440Pro Uncertain significance Single submitter
SLC45A2 p.Trp328Cys Uncertain significance Single submitter
SLC45A2 p.Tyr49Cys Uncertain significance Single submitter
SLC45A2 p.Val115Met Uncertain significance Single submitter
SLC45A2 p.Val126Asp Uncertain significance Single submitter
SLC45A2 p.Val126Ile Uncertain significance Single submitter
SLC45A2 p.Val126Leu Uncertain significance Single submitter
SLC45A2 p.Val127Ala Uncertain significance Single submitter
SLC45A2 p.Val25Leu Uncertain significance Single submitter
SLC45A2 p.Val279Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Val379Met Uncertain significance Single submitter
SLC45A2 p.Val469Met Uncertain significance Single submitter
SLC45A2 p.Val507Met Uncertain significance Single submitter
SLC45A2 p.Val526Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Val63Leu Uncertain significance Single submitter

Predictors split 55

The independent predictors disagree with each other — read with care.

SLC45A2 p.Arg318Cys Uncertain significance Multiple submitters
SLC45A2 p.Arg318His Uncertain significance Multiple submitters
SLC45A2 p.Asp157Asn Pathogenic Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Asp160His Pathogenic/Likely pathogenic Multiple submitters
SLC45A2-related disorder
SLC45A2 p.Asp201Gly Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Ile415Thr Uncertain significance Multiple submitters
SLC45A2-related disorder
SLC45A2 p.Ile488Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Met42Thr Uncertain significance Multiple submitters
SLC45A2 p.Pro419Thr Uncertain significance Multiple submitters
SLC45A2 p.Thr412Met Uncertain significance Multiple submitters
oculocutaneous albinism type 4
SLC45A2 p.Thr480Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC45A2 p.Trp202Cys Pathogenic/Likely pathogenic Multiple submitters
Albinism or congenital nystagmus
SLC45A2 p.Tyr405Cys Uncertain significance Multiple submitters
SLC45A2 p.Ala184Val Uncertain significance Single submitter
SLC45A2 p.Ala477Thr Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Ala511Val Conflicting Single submitter
SLC45A2-related disorder
SLC45A2 p.Ala53Glu Uncertain significance Single submitter
SLC45A2 p.Ala53Val Uncertain significance Single submitter
SLC45A2 p.Ala54Val Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Arg527Gly Uncertain significance Single submitter
SLC45A2 p.Asn122His Uncertain significance Single submitter
SLC45A2 p.Asp157Glu Conflicting Single submitter
SLC45A2 p.Asp340Asn Uncertain significance Single submitter
SLC45A2 p.Gln344His Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC45A2 p.Gln487His Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Glu214Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Gly409Ser Uncertain significance Single submitter
SLC45A2 p.Gly413Glu Likely pathogenic Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Gly416Glu Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.His204Pro Uncertain significance Single submitter
SLC45A2 p.Ile159Phe Uncertain significance Single submitter
SLC45A2 p.Leu391Trp Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Met313Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Met335Arg Uncertain significance Single submitter
SLC45A2 p.Met42Ile Uncertain significance Single submitter
SLC45A2 p.Phe152Leu Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Phe168Leu Uncertain significance Single submitter
SLC45A2 p.Phe221Ser Uncertain significance Single submitter
SLC45A2 p.Phe418Tyr Uncertain significance Single submitter
SLC45A2 p.Phe43Ser Likely pathogenic Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Ser381Phe Uncertain significance Single submitter
SLC45A2 p.Ser423Phe Uncertain significance Single submitter
SLC45A2 p.Ser423Tyr Uncertain significance Single submitter
SLC45A2 p.Ser435Tyr Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Ser62Arg Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Ser71Gly Uncertain significance Single submitter
SLC45A2 p.Ser90Trp Uncertain significance Single submitter
SLC45A2 p.Thr403Arg Uncertain significance Single submitter
SLC45A2 p.Thr440Ala Conflicting Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Thr440Ile Uncertain significance Single submitter
SLC45A2 p.Tyr13Cys Uncertain significance Single submitter
SLC45A2 p.Tyr439Ser Uncertain significance Single submitter
oculocutaneous albinism type 4
SLC45A2 p.Tyr55Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC45A2 p.Val150Ile Uncertain significance Single submitter
SLC45A2 p.Val73Leu Uncertain significance Single submitter

All SLC45A2 variants

Pathogenic 61

c.386-1G>A Multiple submitters oculocutaneous albinism type 4
p.Ala511Glu Multiple submitters SLC45A2-related disorder
p.Asp157Asn Multiple submitters oculocutaneous albinism type 4 ⚠
p.Asp93Asn Multiple submitters SLC45A2-related disorder
p.Gln286Ter Multiple submitters
p.Glu359fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
p.Gly179fs Multiple submitters SLC45A2-related disorder
p.Gly194fs Multiple submitters oculocutaneous albinism type 4
p.Gly349Arg Multiple submitters SLC45A2-related disorder
p.Leu425fs Multiple submitters oculocutaneous albinism type 4
p.Leu427Pro Multiple submitters oculocutaneous albinism type 4
p.Thr329fs Multiple submitters oculocutaneous albinism type 4
p.Tyr319Ter Multiple submitters oculocutaneous albinism type 4
c.1156+1G>A Single submitter
c.1157-765C>G Single submitter oculocutaneous albinism type 4
c.1368+1G>T Single submitter oculocutaneous albinism type 4
c.888+1G>C Single submitter
p.Ala124fs Single submitter
p.Ala330fs Single submitter SLC45A2-related disorder
p.Ala513Glu Single submitter
p.Ala54fs Single submitter
p.Arg101Leu Single submitter
p.Asn290fs Single submitter
p.Asp350fs Single submitter
p.Cys476Ter Single submitter
p.Cys48fs Single submitter
p.Gln296Ter Single submitter
p.Gln484Ter Single submitter
p.Glu282Ter Single submitter
p.Gly188Val Single submitter oculocutaneous albinism type 4
p.Gly44Arg Single submitter
p.Gly473fs Single submitter
p.Gly495fs Single submitter
p.Ile147fs Single submitter
p.Leu210fs Single submitter
p.Leu374fs Single submitter oculocutaneous albinism type 4
p.Lys275Ter Single submitter
p.Met117fs Single submitter
p.Met1Ile Single submitter
p.Phe443fs Single submitter
p.Ser262Ter Single submitter
p.Ser436fs Single submitter
p.Ser90Ter Single submitter
p.Thr231fs Single submitter
p.Trp140Ter Single submitter
p.Tyr182Ter Single submitter
p.Tyr347Ter Single submitter
p.Tyr384Ter Single submitter
p.Tyr401fs Single submitter
p.Tyr401Ter Single submitter
p.Tyr422Ter Single submitter oculocutaneous albinism type 4
p.Tyr439fs Single submitter
p.Tyr449Ter Single submitter
p.Tyr70Ter Single submitter oculocutaneous albinism type 4
p.Val25fs Single submitter
p.Val441fs Single submitter
p.Val51fs Single submitter
p.Val87fs Single submitter
c.563-1G>A No assertion criteria oculocutaneous albinism type 4
p.Tyr49Ter No assertion criteria SLC45A2-related disorder
p.Tyr55fs No assertion criteria oculocutaneous albinism type 4

Pathogenic/Likely pathogenic 18

c.1156+1G>C Multiple submitters SLC45A2-related disorder
p.Ala486Thr Multiple submitters oculocutaneous albinism type 4
p.Arg102Gln Multiple submitters oculocutaneous albinism type 4
p.Asn122Ser Multiple submitters SLC45A2-related disorder ⚠
p.Asp160His Multiple submitters SLC45A2-related disorder ⚠
p.Glu206fs Multiple submitters SLC45A2-related disorder
p.Gly491Arg Multiple submitters SLC45A2-related disorder
p.Gly89fs Multiple submitters SLC45A2-related disorder
p.His38Arg Multiple submitters SLC45A2-related disorder
p.Leu479fs Multiple submitters oculocutaneous albinism type 4
p.Lys389fs Multiple submitters SLC45A2-related disorder
p.Met1Thr Multiple submitters SLC45A2-related disorder
p.Phe338fs Multiple submitters oculocutaneous albinism type 4
p.Pro419Leu Multiple submitters SLC45A2-related disorder ⚠
p.Trp202Cys Multiple submitters Albinism or congenital nystagmus ⚠
p.Tyr266Ter Multiple submitters oculocutaneous albinism type 4
p.Tyr268fs Multiple submitters SLC45A2-related disorder
p.Tyr278Ter Multiple submitters SLC45A2-related disorder

Likely pathogenic 34

p.Cys519Arg Multiple submitters SLC45A2-related disorder
p.Glu368Lys Multiple submitters oculocutaneous albinism type 4 ⚠
p.Gly89Arg Multiple submitters oculocutaneous albinism type 4
p.Phe221del Multiple submitters SLC45A2-related disorder
c.385+1G>A Single submitter oculocutaneous albinism type 4
c.386-2A>G Single submitter oculocutaneous albinism type 4
c.562+2T>C Single submitter
p.Arg101His Single submitter oculocutaneous albinism type 4 ⚠
p.Asn292fs Single submitter oculocutaneous albinism type 4
p.Gln487Ter Single submitter SLC45A2-related disorder
p.Gly413Glu Single submitter oculocutaneous albinism type 4 ⚠
p.Gly493fs Single submitter SLC45A2-related disorder
p.Gly502Arg Single submitter ⚠
p.Leu114fs Single submitter oculocutaneous albinism type 4
p.Leu193Arg Single submitter oculocutaneous albinism type 4
p.Leu35Pro Single submitter
p.Leu61Phe Single submitter SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
p.Met1Arg Single submitter
p.Met1Lys Single submitter
p.Met37Lys Single submitter SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Phe43Ser Single submitter oculocutaneous albinism type 4 ⚠
p.Phe525fs Single submitter
p.Pro255fs Single submitter SLC45A2-related disorder
p.Ser385Phe Single submitter SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
p.Thr339Pro Single submitter SLC45A2-related disorder
p.Thr358fs Single submitter oculocutaneous albinism type 4
p.Trp372Ter Single submitter SLC45A2-related disorder
p.Trp99fs Single submitter SLC45A2-related disorder
p.Trp99Gly Single submitter SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
p.Tyr394Ter Single submitter oculocutaneous albinism type 4
p.Val274fs Single submitter oculocutaneous albinism type 4
p.Val346Leu Single submitter oculocutaneous albinism type 4
p.Ala155_Phe158del No assertion criteria SLC45A2-related disorder
p.Ala50Glu No assertion criteria oculocutaneous albinism type 4

Conflicting classifications of pathogenicity 46

c.1156+7C>T Single submitter oculocutaneous albinism type 4
c.1157-10C>T Single submitter oculocutaneous albinism type 4
c.563-11T>G Single submitter
c.888+14A>G Single submitter oculocutaneous albinism type 4
c.*1G>A Single submitter oculocutaneous albinism type 4
p.Ala124= Single submitter oculocutaneous albinism type 4
p.Ala477Thr Single submitter oculocutaneous albinism type 4 ⚠
p.Ala486Val Single submitter oculocutaneous albinism type 4 ⚠
p.Ala511= Single submitter oculocutaneous albinism type 4
p.Ala511Val Single submitter SLC45A2-related disorder ⚠
p.Arg102Trp Single submitter oculocutaneous albinism type 4 ⚠
p.Arg209= Single submitter oculocutaneous albinism type 4
p.Arg318Leu Single submitter ⚠
p.Asp157Glu Single submitter ⚠
p.Cys229Tyr Single submitter oculocutaneous albinism type 4 ⚠
p.Gln344His Single submitter SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Glu267Lys Single submitter oculocutaneous albinism type 4 ⚠
p.Gly188Asp Single submitter SLC45A2-related disorder ⚠
p.Gly198Asp Single submitter Pigmentary skin disorders ⚠
p.Gly248Asp Single submitter Inborn genetic diseases ⚠
p.Gly416Glu Single submitter oculocutaneous albinism type 4 ⚠
p.Gly432Asp Single submitter Inborn genetic diseases ⚠
p.Gly64Asp Single submitter Inborn genetic diseases ⚠
p.Ile326Asn Single submitter oculocutaneous albinism type 4 ⚠
p.Leu207Val Single submitter ⚠
p.Leu332Pro Single submitter SLC45A2-related disorder ⚠
p.Leu361Pro Single submitter oculocutaneous albinism type 4 ⚠
p.Leu417= Single submitter oculocutaneous albinism type 4
p.Leu485Pro Single submitter SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Lys176= Single submitter oculocutaneous albinism type 4
p.Phe152Leu Single submitter oculocutaneous albinism type 4 ⚠
p.Pro104Ser Single submitter oculocutaneous albinism type 4 ⚠
p.Pro259Leu Single submitter Inborn genetic diseases ⚠
p.Pro442Leu Single submitter oculocutaneous albinism type 4 ⚠
p.Ser382Leu Single submitter SLC45A2-related disorder ⚠
p.Ser512_Ala513dup Single submitter oculocutaneous albinism type 4
p.Ser92Gly Single submitter SLC45A2-related disorder ⚠
p.Thr339Arg Single submitter Inborn genetic diseases ⚠
p.Thr440Ala Single submitter oculocutaneous albinism type 4 ⚠
p.Tyr166Cys Single submitter Inborn genetic diseases ⚠
p.Tyr278= Single submitter oculocutaneous albinism type 4
p.Tyr363= Single submitter oculocutaneous albinism type 4
p.Val144= Single submitter oculocutaneous albinism type 4
p.Val506= Single submitter oculocutaneous albinism type 4
p.Val506Ile Single submitter oculocutaneous albinism type 4 ⚠
p.Val507Leu Single submitter oculocutaneous albinism type 4

Benign 16

c.1033-44C>A Multiple submitters
c.1156+108T>C Multiple submitters
c.1157-65G>T Multiple submitters
c.1368+100G>C Multiple submitters
c.386-51C>T Multiple submitters
c.563-120T>C Multiple submitters
c.563-231A>G Multiple submitters
c.563-89A>C Multiple submitters
p.Leu374Phe Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
c.1033-279T>G Single submitter
c.1033-324G>A Single submitter
c.888+20del Single submitter
c.888+226_888+227del Single submitter
c.888+50GTT[4] Single submitter
c.889-271C>T Single submitter
p.Leu374= Single submitter cutaneous melanoma

Benign/Likely benign 5

c.1032+9C>T Multiple submitters oculocutaneous albinism type 4
c.563-19A>T Multiple submitters
p.Glu272Lys Multiple submitters oculocutaneous albinism type 4
p.Phe418= Multiple submitters
p.Thr302Ser Multiple submitters

Likely benign 232

c.1032+10G>A Multiple submitters
c.1157-18C>T Multiple submitters
c.1369-18T>C Multiple submitters
c.385+12G>A Multiple submitters
c.386-19del Multiple submitters
c.563-17C>A Multiple submitters
c.563-20T>A Multiple submitters
c.888+8T>C Multiple submitters
c.*24A>C Multiple submitters oculocutaneous albinism type 4
p.Arg451= Multiple submitters
p.Asn467= Multiple submitters
p.Asp160= Multiple submitters
p.Asp23= Multiple submitters
p.Cys476= Multiple submitters
p.Phe387= Multiple submitters
p.Pro259= Multiple submitters
p.Pro419= Multiple submitters
p.Ser353= Multiple submitters
p.Ser468= Multiple submitters
p.Thr424= Multiple submitters
p.Thr500= Multiple submitters
p.Thr503= Multiple submitters
p.Tyr182= Multiple submitters
p.Tyr195= Multiple submitters
p.Val149= Multiple submitters
p.Val490= Multiple submitters
p.Val505= Multiple submitters
c.1032+10G>T Single submitter
c.1032+12G>A Single submitter
c.1032+17T>C Single submitter
c.1032+8A>C Single submitter
c.1032+9C>G Single submitter
c.1033-10T>C Single submitter
c.1033-11C>A Single submitter
c.1033-11CT[2] Single submitter
c.1033-12T>A Single submitter
c.1033-14A>G Single submitter
c.1033-18C>A Single submitter
c.1033-18C>T Single submitter
c.1033-19C>G Single submitter
c.1033-20G>A Single submitter
c.1033-6T>C Single submitter
c.1033-9C>G Single submitter
c.1156+10TC[2] Single submitter
c.1156+12T>A Single submitter
c.1156+16T>C Single submitter
c.1156+17_1156+18del Single submitter
c.1156+19T>G Single submitter
c.1156+9T>C Single submitter
c.1157-10C>A Single submitter
c.1157-12T>C Single submitter
c.1157-6C>T Single submitter
c.1157-9T>C Single submitter
c.1368+11A>G Single submitter
c.1368+14G>C Single submitter
c.1368+32A>G Single submitter
c.1369-12C>T Single submitter
c.1369-13G>A Single submitter
c.385+11_385+24del Single submitter
c.385+11T>C Single submitter
c.385+18G>A Single submitter
c.385+20T>C Single submitter
c.386-12T>C Single submitter
c.386-13A>G Single submitter
c.386-17G>A Single submitter
c.386-18T>C Single submitter
c.386-19A>G Single submitter
c.386-7C>G Single submitter
c.562+13C>T Single submitter
c.562+20G>A Single submitter
c.562+8A>T Single submitter
c.563-13T>C Single submitter
c.563-20_563-19del Single submitter
c.563-5T>C Single submitter
c.563-7T>G Single submitter
c.563-9G>C Single submitter
c.888+10C>G Single submitter
c.888+12A>G Single submitter
c.888+15T>C Single submitter
c.888+16T>G Single submitter
c.888+20T>A Single submitter
c.888+8T>G Single submitter
c.889-11T>A Single submitter
c.889-12G>A Single submitter
c.889-14A>C Single submitter
c.889-15C>G Single submitter
c.889-15C>T Single submitter
c.889-18T>A Single submitter
c.889-18T>C Single submitter
c.889-21_889-20del Single submitter
c.889-6T>C Single submitter
c.889-7A>G Single submitter
c.889-9_889-8dup Single submitter
p.Ala132= Single submitter
p.Ala156= Single submitter
p.Ala184= Single submitter
p.Ala240= Single submitter
p.Ala284= Single submitter
p.Ala330= Single submitter
p.Ala486= Single submitter
p.Ala50= Single submitter
p.Ala501= Single submitter
p.Ala513= Single submitter
p.Ala54= Single submitter
p.Ala91= Single submitter
p.Arg101= Single submitter
p.Arg103= Single submitter
p.Arg299= Single submitter
p.Arg348= Single submitter
p.Arg365= Single submitter
p.Arg457= Single submitter
p.Asn133= Single submitter
p.Asn276= Single submitter
p.Asn356= Single submitter
p.Asn499= Single submitter
p.Asp175= Single submitter
p.Asp263= Single submitter
p.Asp340= Single submitter
p.Cys171= Single submitter
p.Cys371= Single submitter
p.Cys95= Single submitter
p.Glu206= Single submitter
p.Glu52= Single submitter
p.Gly116= Single submitter
p.Gly123= Single submitter
p.Gly161= Single submitter
p.Gly20= Single submitter
p.Gly269= Single submitter
p.Gly343= Single submitter
p.Gly373= Single submitter
p.Gly399= Single submitter
p.Gly404= Single submitter
p.Gly416= Single submitter
p.Gly432= Single submitter
p.Gly463= Single submitter
p.Gly492= Single submitter
p.Gly6= Single submitter
p.His324= Single submitter
p.His355= Single submitter
p.His450= Single submitter
p.His94= Single submitter
p.Ile106= Single submitter
p.Ile12= Single submitter
p.Ile163= Single submitter
p.Ile271= Single submitter
p.Ile362= Single submitter
p.Ile376= Single submitter
p.Ile415= Single submitter
p.Ile488= Single submitter
p.Leu109= Single submitter
p.Leu114= Single submitter
p.Leu138= Single submitter
p.Leu180= Single submitter
p.Leu211= Single submitter
p.Leu224= Single submitter
p.Leu234= Single submitter
p.Leu260= Single submitter
p.Leu325= Single submitter
p.Leu332= Single submitter
p.Leu361= Single submitter
p.Leu383= Single submitter
p.Leu425= Single submitter
p.Leu438= Single submitter
p.Leu489= Single submitter
p.Leu516= Single submitter
p.Leu524= Single submitter
p.Leu61= Single submitter
p.Leu65= Single submitter
p.Leu69= Single submitter
p.Leu80= Single submitter
p.Leu83= Single submitter
p.Leu84= Single submitter
p.Lys273= Single submitter
p.Lys29= Single submitter
p.Lys472= Single submitter
p.Phe189= Single submitter
p.Phe338= Single submitter
p.Phe402= Single submitter
p.Phe43= Single submitter
p.Phe431= Single submitter
p.Pro104= Single submitter
p.Pro21= Single submitter
p.Pro31= Single submitter
p.Pro351= Single submitter
p.Pro442= Single submitter
p.Pro461= Single submitter
p.Pro86= Single submitter
p.Ser236= Single submitter
p.Ser24= Single submitter
p.Ser261= Single submitter
p.Ser3= Single submitter
p.Ser378= Single submitter
p.Ser393= Single submitter
p.Ser435= Single submitter
p.Ser62= Single submitter
p.Ser68= Single submitter
p.Ser77= Single submitter
p.Ser90= Single submitter
p.Thr145= Single submitter
p.Thr243= Single submitter
p.Thr254= Single submitter
p.Thr329= Single submitter
p.Thr339= Single submitter
p.Thr412= Single submitter
p.Thr437= Single submitter
p.Thr440= Single submitter
p.Thr510= Single submitter
p.Thr57= Single submitter
p.Tyr166= Single submitter
p.Tyr266= Single submitter
p.Tyr268Cys Single submitter
p.Tyr319= Single submitter
p.Tyr394= Single submitter
p.Tyr422= Single submitter
p.Tyr49= Single submitter
p.Tyr528= Single submitter
p.Val111= Single submitter
p.Val127= Single submitter
p.Val217= Single submitter
p.Val274= Single submitter
p.Val346= Single submitter
p.Val367= Single submitter
p.Val421= Single submitter
p.Val433= Single submitter
p.Val441= Single submitter
p.Val469= Single submitter
p.Val507= Single submitter
p.Val522= Single submitter
p.Val73= Single submitter
p.Val87= Single submitter
p.Val88= Single submitter
p.Asn377= No assertion criteria SLC45A2-related disorder

Uncertain significance 223

p.Ala460Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala460Val Multiple submitters Inborn genetic diseases ⚠
p.Ala523Thr Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Arg101Cys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Arg298Cys Multiple submitters ⚠
p.Arg298Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg318Cys Multiple submitters ⚠
p.Arg318His Multiple submitters ⚠
p.Arg348Cys Multiple submitters oculocutaneous albinism type 4 ⚠
p.Arg348Pro Multiple submitters Inborn genetic diseases
p.Arg451Cys Multiple submitters oculocutaneous albinism type 4 ⚠
p.Arg451His Multiple submitters oculocutaneous albinism type 4 ⚠
p.Asn420Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp18Val Multiple submitters oculocutaneous albinism type 4 ⚠
p.Asp201Gly Multiple submitters oculocutaneous albinism type 4 ⚠
p.Glu177del Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
p.Glu282Asp Multiple submitters ⚠
p.Glu364Lys Multiple submitters oculocutaneous albinism type 4 ⚠
p.Glu452Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu456= Multiple submitters
p.Gly100Ser Multiple submitters ⚠
p.Gly269Val Multiple submitters ⚠
p.His293Arg Multiple submitters Inborn genetic diseases ⚠
p.His94Asp Multiple submitters ⚠
p.Ile415Thr Multiple submitters SLC45A2-related disorder ⚠
p.Ile488Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile517Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu524Phe Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Lys29Arg Multiple submitters ⚠
p.Lys29Glu Multiple submitters ⚠
p.Lys304Gln Multiple submitters Inborn genetic diseases ⚠
p.Met265Leu Multiple submitters SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR ⚠
p.Met301Thr Multiple submitters Inborn genetic diseases ⚠
p.Met40Val Multiple submitters ⚠
p.Met42Thr Multiple submitters ⚠
p.Met482Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro419Thr Multiple submitters ⚠
p.Pro78Thr Multiple submitters oculocutaneous albinism type 4 ⚠
p.Thr254Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr329Ile Multiple submitters oculocutaneous albinism type 4 ⚠
p.Thr339Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr403Met Multiple submitters oculocutaneous albinism type 4 ⚠
p.Thr412Met Multiple submitters oculocutaneous albinism type 4 ⚠
p.Thr480Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr510Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr405Cys Multiple submitters ⚠
p.Tyr422His Multiple submitters Inborn genetic diseases ⚠
p.Val367Ile Multiple submitters ⚠
p.Val504Ile Multiple submitters ⚠
p.Val508Leu Multiple submitters
p.Val59Gly Multiple submitters Inborn genetic diseases ⚠
p.Val73Glu Multiple submitters Inborn genetic diseases ⚠
c.-12C>T Single submitter oculocutaneous albinism type 4
c.-30G>T Single submitter oculocutaneous albinism type 4
c.-7A>G Single submitter oculocutaneous albinism type 4
p.Ala124Ser Single submitter Inborn genetic diseases ⚠
p.Ala132Val Single submitter ⚠
p.Ala141Ser Single submitter ⚠
p.Ala155Ser Single submitter Inborn genetic diseases ⚠
p.Ala156Val Single submitter ⚠
p.Ala184Val Single submitter ⚠
p.Ala192Ser Single submitter Inborn genetic diseases ⚠
p.Ala240Val Single submitter Inborn genetic diseases ⚠
p.Ala309Pro Single submitter
p.Ala330Gly Single submitter ⚠
p.Ala330Pro Single submitter
p.Ala501Asp Single submitter ⚠
p.Ala50Thr Single submitter ⚠
p.Ala50Val Single submitter ⚠
p.Ala511Thr Single submitter
p.Ala515Thr Single submitter Inborn genetic diseases
p.Ala53Glu Single submitter ⚠
p.Ala53Val Single submitter ⚠
p.Ala54Val Single submitter oculocutaneous albinism type 4 ⚠
p.Arg101Gly Single submitter oculocutaneous albinism type 4 ⚠
p.Arg135Gly Single submitter ⚠
p.Arg209Lys Single submitter ⚠
p.Arg298His Single submitter ⚠
p.Arg348His Single submitter ⚠
p.Arg457Lys Single submitter ⚠
p.Arg527Gly Single submitter ⚠
p.Arg96Pro Single submitter oculocutaneous albinism type 4 ⚠
p.Asn122His Single submitter ⚠
p.Asn276Ser Single submitter Inborn genetic diseases ⚠
p.Asn290Ile Single submitter Inborn genetic diseases ⚠
p.Asn290Ser Single submitter Inborn genetic diseases ⚠
p.Asn377Lys Single submitter oculocutaneous albinism type 4 ⚠
p.Asn467del Single submitter
p.Asp18Asn Single submitter ⚠
p.Asp18His Single submitter ⚠
p.Asp257Asn Single submitter ⚠
p.Asp340Asn Single submitter ⚠
p.Asp350Gly Single submitter ⚠
p.Asp464Tyr Single submitter ⚠
p.Cys235Arg Single submitter ⚠
p.Cys519Phe Single submitter ⚠
p.Cys519Tyr Single submitter oculocutaneous albinism type 4 ⚠
p.Gln252Glu Single submitter Inborn genetic diseases ⚠
p.Gln253Glu Single submitter ⚠
p.Gln344Arg Single submitter ⚠
p.Gln487His Single submitter Inborn genetic diseases ⚠
p.Gln487Leu Single submitter ⚠
p.Glu177Lys Single submitter ⚠
p.Glu214Ala Single submitter Inborn genetic diseases ⚠
p.Glu267Asp Single submitter Inborn genetic diseases ⚠
p.Glu448Asp Single submitter ⚠
p.Glu456Lys Single submitter Inborn genetic diseases ⚠
p.Gly110Arg Single submitter ⚠
p.Gly148Asp Single submitter ⚠
p.Gly366Arg Single submitter ⚠
p.Gly370Glu Single submitter ⚠
p.Gly399Ala Single submitter ⚠
p.Gly404Glu Single submitter Inborn genetic diseases ⚠
p.Gly409Ser Single submitter ⚠
p.Gly411= Single submitter oculocutaneous albinism type 4
p.Gly413Arg Single submitter ⚠
p.Gly462Glu Single submitter Inborn genetic diseases ⚠
p.Gly473Asp Single submitter ⚠
p.Gly473Ser Single submitter ⚠
p.Gly493Ser Single submitter Inborn genetic diseases ⚠
p.Gly64Val Single submitter oculocutaneous albinism type 4 ⚠
p.His11Arg Single submitter ⚠
p.His204Arg Single submitter ⚠
p.His204Leu Single submitter Inborn genetic diseases ⚠
p.His204Pro Single submitter ⚠
p.His204Tyr Single submitter ⚠
p.His94Arg Single submitter Inborn genetic diseases ⚠
p.His94Leu Single submitter ⚠
p.Ile159Phe Single submitter ⚠
p.Ile200Met Single submitter Inborn genetic diseases ⚠
p.Ile237Val Single submitter ⚠
p.Ile249Leu Single submitter ⚠
p.Ile362Val Single submitter Inborn genetic diseases ⚠
p.Ile36del Single submitter
p.Ile36Met Single submitter Inborn genetic diseases ⚠
p.Ile395Phe Single submitter ⚠
p.Ile446Val Single submitter ⚠
p.Ile488Ser Single submitter ⚠
p.Leu107His Single submitter Inborn genetic diseases ⚠
p.Leu114Phe Single submitter ⚠
p.Leu16Val Single submitter ⚠
p.Leu383Pro Single submitter Inborn genetic diseases ⚠
p.Leu391Trp Single submitter Inborn genetic diseases ⚠
p.Leu430Pro Single submitter
p.Leu479Val Single submitter ⚠
p.Leu489Val Single submitter Inborn genetic diseases ⚠
p.Leu60= Single submitter oculocutaneous albinism type 4
p.Leu60Arg Single submitter ⚠
p.Lys247Arg Single submitter ⚠
p.Lys291Arg Single submitter Inborn genetic diseases ⚠
p.Lys29Thr Single submitter ⚠
p.Lys398Asn Single submitter oculocutaneous albinism type 4 ⚠
p.Lys472Arg Single submitter ⚠
p.Met146Leu Single submitter ⚠
p.Met285Ile Single submitter ⚠
p.Met313Leu Single submitter Inborn genetic diseases ⚠
p.Met335Arg Single submitter ⚠
p.Met42Ile Single submitter ⚠
p.Phe158Ser Single submitter
p.Phe168Leu Single submitter ⚠
p.Phe221Ser Single submitter ⚠
p.Phe230Leu Single submitter ⚠
p.Phe360Ile Single submitter
p.Phe418Tyr Single submitter ⚠
p.Phe43Leu Single submitter
p.Phe47= Single submitter oculocutaneous albinism type 4
p.Pro21Ser Single submitter ⚠
p.Pro258Leu Single submitter oculocutaneous albinism type 4 ⚠
p.Pro314Leu Single submitter oculocutaneous albinism type 4 ⚠
p.Pro351Thr Single submitter ⚠
p.Pro461Ser Single submitter ⚠
p.Pro58Ala Single submitter ⚠
p.Pro86Ser Single submitter ⚠
p.Ser15Phe Single submitter ⚠
p.Ser222Cys Single submitter ⚠
p.Ser222Tyr Single submitter ⚠
p.Ser323Arg Single submitter ⚠
p.Ser353Asn Single submitter ⚠
p.Ser381Phe Single submitter ⚠
p.Ser423Phe Single submitter ⚠
p.Ser423Tyr Single submitter ⚠
p.Ser435Tyr Single submitter oculocutaneous albinism type 4 ⚠
p.Ser5Gly Single submitter ⚠
p.Ser5Lys Single submitter
p.Ser62Arg Single submitter oculocutaneous albinism type 4 ⚠
p.Ser62Asn Single submitter Inborn genetic diseases ⚠
p.Ser67Thr Single submitter ⚠
p.Ser71Gly Single submitter ⚠
p.Ser90Trp Single submitter ⚠
p.Ter531Trp Single submitter
p.Thr108= Single submitter oculocutaneous albinism type 4
p.Thr187= Single submitter
p.Thr329Ala Single submitter Inborn genetic diseases ⚠
p.Thr329Arg Single submitter ⚠
p.Thr329Met Single submitter
p.Thr403= Single submitter
p.Thr403Arg Single submitter ⚠
p.Thr437Ser Single submitter Inborn genetic diseases ⚠
p.Thr440Ile Single submitter ⚠
p.Thr440Pro Single submitter ⚠
p.Trp328Cys Single submitter ⚠
p.Tyr13Cys Single submitter ⚠
p.Tyr266_Glu267insThr Single submitter
p.Tyr439Ser Single submitter oculocutaneous albinism type 4 ⚠
p.Tyr49Cys Single submitter ⚠
p.Tyr55Asn Single submitter Inborn genetic diseases ⚠
p.Val115Met Single submitter ⚠
p.Val126Asp Single submitter ⚠
p.Val126Ile Single submitter ⚠
p.Val126Leu Single submitter ⚠
p.Val127Ala Single submitter ⚠
p.Val150Ile Single submitter ⚠
p.Val25Leu Single submitter ⚠
p.Val279Ile Single submitter Inborn genetic diseases ⚠
p.Val379Met Single submitter ⚠
p.Val469Met Single submitter ⚠
p.Val483Leu Single submitter Inborn genetic diseases
p.Val507Met Single submitter ⚠
p.Val526Ile Single submitter Inborn genetic diseases ⚠
p.Val63Leu Single submitter ⚠
p.Val73Gly Single submitter Inborn genetic diseases ⚠
p.Val73Leu Single submitter ⚠
p.Val73Met Single submitter ⚠