OCA2 — 1428 ClinVar variants

All ClinVar germline OCA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 392 flagged for review →

113 Pathogenic · 76 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 113 Conflicting · 73 Benign · 24 Benign/Likely benign · 527 Likely benign · 377 Uncertain significance

Full OCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 392

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 10

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

OCA2 p.Arg290Gly Pathogenic/Likely pathogenic Multiple submitters
OCA2-related disorder
OCA2 p.Arg572Cys Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Glu96Ala Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Pro211Ala Pathogenic/Likely pathogenic Multiple submitters
OCA2-related disorder
OCA2 p.Ser195Gly Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Arg811Lys Likely pathogenic Single submitter
oculocutaneous albinism type 2
OCA2 p.His697Tyr Likely pathogenic Single submitter
oculocutaneous albinism type 2
OCA2 p.Ile667Phe Likely pathogenic Single submitter
OCA2-related disorder
OCA2 p.Lys625Arg Likely pathogenic Single submitter
oculocutaneous albinism type 2
OCA2 p.Thr275Ala Likely pathogenic Single submitter
OCA2-related disorder

Predictors agree, ClinVar conflicts 56

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

OCA2 p.Ala14Thr Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Ala14Val Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Ala339Glu Conflicting Single submitter
OCA2 p.Ala339Ser Conflicting Single submitter
OCA2 p.Ala368Val Conflicting Single submitter
Albinism or congenital nystagmus
OCA2 p.Ala765Thr Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Arg10Gln Conflicting Single submitter
OCA2 p.Arg172Thr Conflicting Single submitter
OCA2-related disorder
OCA2 p.Arg173Cys Conflicting Single submitter
OCA2 p.Arg243Cys Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Arg266Gln Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Arg305Gln Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Arg36Cys Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Arg373Ile Conflicting Single submitter
OCA2-related disorder
OCA2 p.Arg455Gly Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Arg572Pro Conflicting Single submitter
OCA2 p.Arg588Trp Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Asn741Lys Conflicting Single submitter
OCA2 p.Asp441Gly Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Asp486Tyr Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Cys777Tyr Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Glu567Lys Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Glu760Val Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Gly27Arg Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.His757Gln Conflicting Single submitter
OCA2 p.His78Tyr Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Ile370Thr Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Ile617Thr Conflicting Single submitter
OCA2-related disorder
OCA2 p.Ile634Asn Conflicting Single submitter
OCA2-related disorder
OCA2 p.Leu361Val Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Leu440Phe Conflicting Single submitter
OCA2-related disorder
OCA2 p.Leu447Pro Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Leu460Phe Conflicting Single submitter
OCA2-related disorder
OCA2 p.Leu661Phe Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Leu734Arg Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Lys625Asn Conflicting Single submitter
OCA2 p.Met446Val Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Met825Leu Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Phe385Ile Conflicting Single submitter
OCA2-related disorder
OCA2 p.Phe804Leu Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Phe809Ile Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Pro211Ser Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Pro766Thr Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Ser641Leu Conflicting Single submitter
OCA2-related disorder
OCA2 p.Ser736Leu Conflicting Single submitter
OCA2-related disorder
OCA2 p.Thr22Met Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Thr387Met Conflicting Single submitter
OCA2-related disorder
OCA2 p.Thr482Pro Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Trp652Arg Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Trp679Arg Conflicting Single submitter
OCA2 p.Tyr342Cys Conflicting Single submitter
OCA2-related disorder
OCA2 p.Val251Met Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Val327Ile Conflicting Single submitter
Inborn genetic diseases
OCA2 p.Val435Ile Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Val443Ala Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Val833Met Conflicting Single submitter
oculocutaneous albinism type 2

Predictors lean, ClinVar uncertain 243

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 243

OCA2 p.Ala185Ser Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ala29Thr Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Ala339Val Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ala343Thr Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ala433Thr Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ala587Thr Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ala687Val Uncertain significance Multiple submitters
OCA2 p.Ala733Pro Uncertain significance Multiple submitters
OCA2 p.Ala771Ser Uncertain significance Multiple submitters
OCA2 p.Arg136Gln Uncertain significance Multiple submitters
OCA2 p.Arg172Lys Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Arg265Trp Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Arg421Gln Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Arg53Lys Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Arg560Leu Uncertain significance Multiple submitters
OCA2 p.Arg616Gly Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Arg811Gly Uncertain significance Multiple submitters
OCA2 p.Asn489Tyr Uncertain significance Multiple submitters
OCA2 p.Asp372Asn Uncertain significance Multiple submitters
OCA2 p.Asp408Asn Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Cys430Tyr Uncertain significance Multiple submitters
OCA2 p.Gln200His Uncertain significance Multiple submitters
OCA2 p.Gln66Arg Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Glu381Gly Uncertain significance Multiple submitters
Albinism or congenital nystagmus
OCA2 p.Gly631Ala Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Gly631Arg Uncertain significance Multiple submitters
OCA2 p.Gly75Glu Uncertain significance Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.His699Asn Uncertain significance Multiple submitters
OCA2 p.Ile491Thr Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ile544Val Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ile667Val Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ile673Asn Uncertain significance Multiple submitters
OCA2 p.Leu763Met Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Met425Thr Uncertain significance Multiple submitters
OCA2 p.Met446Thr Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Met636Val Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Met816Val Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Met817Ile Uncertain significance Multiple submitters
OCA2 p.Phe684Cys Uncertain significance Multiple submitters
OCA2-related disorder
OCA2 p.Pro525Leu Uncertain significance Multiple submitters
OCA2 p.Pro767Leu Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Ser283Arg Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Ser402Leu Uncertain significance Multiple submitters
OCA2 p.Ser86Thr Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Thr569Pro Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Tyr322Cys Uncertain significance Multiple submitters
OCA2 p.Tyr531Cys Uncertain significance Multiple submitters
OCA2 p.Val217Met Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Val341Ile Uncertain significance Multiple submitters
OCA2 p.Val412Ile Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Val452Leu Uncertain significance Multiple submitters
OCA2 p.Val792Met Uncertain significance Multiple submitters
OCA2 p.Ala123Asp Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ala16Thr Uncertain significance Single submitter
OCA2 p.Ala259Val Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ala313Asp Uncertain significance Single submitter
OCA2 p.Ala339Thr Uncertain significance Single submitter
OCA2 p.Ala343Pro Uncertain significance Single submitter
OCA2 p.Ala356Pro Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Ala438Asp Uncertain significance Single submitter
OCA2-related disorder
OCA2 p.Ala480Pro Uncertain significance Single submitter
OCA2 p.Ala481Val Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ala510Thr Uncertain significance Single submitter
OCA2 p.Ala581Thr Uncertain significance Single submitter
OCA2 p.Ala624Thr Uncertain significance Single submitter
OCA2 p.Ala687Thr Uncertain significance Single submitter
OCA2 p.Ala696Val Uncertain significance Single submitter
OCA2 p.Ala69Thr Uncertain significance Single submitter
OCA2 p.Ala787Gly Uncertain significance Single submitter
OCA2 p.Ala794Ser Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Arg102Ser Uncertain significance Single submitter
OCA2 p.Arg136Pro Uncertain significance Single submitter
OCA2 p.Arg173His Uncertain significance Single submitter
OCA2 p.Arg243His Uncertain significance Single submitter
OCA2 p.Arg265Gln Uncertain significance Single submitter
OCA2 p.Arg324His Uncertain significance Single submitter
OCA2 p.Arg352Gly Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Arg36Leu Uncertain significance Single submitter
OCA2 p.Arg416Gln Uncertain significance Single submitter
OCA2 p.Arg416Pro Uncertain significance Single submitter
OCA2 p.Arg419Gly Uncertain significance Single submitter
OCA2 p.Arg53Gly Uncertain significance Single submitter
OCA2 p.Arg53Trp Uncertain significance Single submitter
OCA2 p.Arg555Pro Uncertain significance Single submitter
OCA2 p.Arg555Ser Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Arg572His Uncertain significance Single submitter
OCA2 p.Arg573Cys Uncertain significance Single submitter
OCA2 p.Arg573His Uncertain significance Single submitter
OCA2 p.Arg588Gln Uncertain significance Single submitter
OCA2 p.Arg676Ile Uncertain significance Single submitter
OCA2 p.Arg76Lys Uncertain significance Single submitter
OCA2 p.Arg76Trp Uncertain significance Single submitter
OCA2 p.Arg88Lys Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Asn442Asp Uncertain significance Single submitter
OCA2 p.Asn461Ser Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Asn640Ser Uncertain significance Single submitter
OCA2 p.Asn741Ser Uncertain significance Single submitter
OCA2 p.Asn741Tyr Uncertain significance Single submitter
OCA2 p.Asp129Gly Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Asp129His Uncertain significance Single submitter
OCA2 p.Asp157Val Uncertain significance Single submitter
OCA2 p.Asp486His Uncertain significance Single submitter
OCA2 p.Asp758Asn Uncertain significance Single submitter
OCA2 p.Asp758Gly Uncertain significance Single submitter
OCA2 p.Asp758Val Uncertain significance Single submitter
OCA2 p.Cys410Arg Uncertain significance Single submitter
OCA2 p.Cys457Phe Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Cys523Tyr Uncertain significance Single submitter
OCA2 p.Cys793Gly Uncertain significance Single submitter
OCA2 p.Cys826Gly Uncertain significance Single submitter
OCA2 p.Gln269Arg Uncertain significance Single submitter
OCA2 p.Gln496His Uncertain significance Single submitter
OCA2 p.Glu107Asp Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Glu124Ala Uncertain significance Single submitter
OCA2 p.Glu128Gln Uncertain significance Single submitter
OCA2 p.Glu213Lys Uncertain significance Single submitter
OCA2 p.Glu213Val Uncertain significance Single submitter
OCA2 p.Glu253Lys Uncertain significance Single submitter
OCA2 p.Glu293Gly Uncertain significance Single submitter
OCA2 p.Glu298Asp Uncertain significance Single submitter
OCA2 p.Glu386Asp Uncertain significance Single submitter
OCA2 p.Glu403Gly Uncertain significance Single submitter
OCA2 p.Glu497Asp Uncertain significance Single submitter
OCA2 p.Glu671Gly Uncertain significance Single submitter
OCA2 p.Glu693Val Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Glu702Ala Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Glu718Asp Uncertain significance Single submitter
OCA2 p.Glu760Lys Uncertain significance Single submitter
OCA2 p.Gly109Ala Uncertain significance Single submitter
OCA2 p.Gly245Trp Uncertain significance Single submitter
OCA2 p.Gly34Ser Uncertain significance Single submitter
OCA2 p.Gly405Arg Uncertain significance Single submitter
OCA2 p.Gly57Ala Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Gly57Arg Uncertain significance Single submitter
OCA2 p.Gly620Arg Uncertain significance Single submitter
OCA2 p.Gly657Asp Uncertain significance Single submitter
OCA2 p.Gly779Arg Uncertain significance Single submitter
OCA2 p.Gly782Glu Uncertain significance Single submitter
Albinism or congenital nystagmus
OCA2 p.Gly795Arg Uncertain significance Single submitter
OCA2 p.Gly813Asp Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Gly813Ser Uncertain significance Single submitter
OCA2 p.Gly836Arg Uncertain significance Single submitter
OCA2 p.His272Arg Uncertain significance Single submitter
OCA2 p.His511Asp Uncertain significance Single submitter
OCA2 p.His584Gln Uncertain significance Single submitter
OCA2 p.His615Tyr Uncertain significance Single submitter
OCA2 p.His832Tyr Uncertain significance Single submitter
OCA2 p.Ile113Leu Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ile192Val Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ile302Val Uncertain significance Single submitter

Predictors split 83

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

OCA2 p.Ala433Val Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Arg416Trp Uncertain significance Multiple submitters
OCA2 p.Arg421Trp Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Arg560Cys Uncertain significance Multiple submitters
OCA2 p.Arg560His Benign/Likely benign Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Arg811Ser Pathogenic/Likely pathogenic Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Asn495Ser Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.His615Arg Benign Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Ile477Thr Uncertain significance Multiple submitters
OCA2 p.Ile739Thr Likely pathogenic Multiple submitters
oculocutaneous albinism
OCA2 p.Leu630Met Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Met425Val Uncertain significance Multiple submitters
OCA2 p.Phe401Leu Uncertain significance Multiple submitters
OCA2 p.Phe505Ser Likely pathogenic Multiple submitters
oculocutaneous albinism
OCA2 p.Pro315Ser Uncertain significance Multiple submitters
oculocutaneous albinism type 2
OCA2 p.Pro563Leu Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Pro764Ala Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Thr275Arg Uncertain significance Multiple submitters
OCA2 p.Thr275Met Uncertain significance Multiple submitters
OCA2 p.Tyr409Cys Uncertain significance Multiple submitters
Inborn genetic diseases
OCA2 p.Val380Met Uncertain significance Multiple submitters
OCA2 p.Val519Ala Uncertain significance Multiple submitters
OCA2 p.Val633Ile Uncertain significance Multiple submitters
OCA2 p.Ala481Thr Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Ala658Thr Uncertain significance Single submitter
OCA2 p.Ala694Thr Conflicting Single submitter
oculocutaneous albinism type 2
OCA2 p.Arg324Cys Likely benign Single submitter
OCA2 p.Arg419Trp Conflicting Single submitter
OCA2-related disorder
OCA2 p.Arg555Cys Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Arg555His Uncertain significance Single submitter
OCA2 p.Arg566Cys Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Arg566His Uncertain significance Single submitter
OCA2 p.Arg589Trp Uncertain significance Single submitter
OCA2 p.Arg595Ser Uncertain significance Single submitter
OCA2 p.Asp441Asn Likely pathogenic Single submitter
OCA2 p.Glu96Lys Conflicting Single submitter
OCA2 p.Gly325Arg Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.His675Tyr Uncertain significance Single submitter
OCA2 p.Ile250Thr Uncertain significance Single submitter
OCA2 p.Ile345Val Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ile383Val Uncertain significance Single submitter
OCA2 p.Ile400Met Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ile477Val Uncertain significance Single submitter
OCA2 p.Ile516Thr Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Ile617Leu Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Leu254Arg Conflicting Single submitter
OCA2-related disorder
OCA2 p.Leu436Phe Uncertain significance Single submitter
OCA2 p.Leu436Val Uncertain significance Single submitter
OCA2 p.Leu460Val Conflicting Single submitter
OCA2 p.Leu527Val Uncertain significance Single submitter
OCA2 p.Leu664Phe Uncertain significance Single submitter
OCA2 p.Leu674Ile Uncertain significance Single submitter
OCA2 p.Leu674Val Conflicting Single submitter
OCA2-related disorder
OCA2 p.Lys179Glu Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2 p.Lys713Arg Uncertain significance Single submitter
OCA2 p.Lys713Glu Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Met425Ile Uncertain significance Single submitter
OCA2 p.Met512Ile Uncertain significance Single submitter
OCA2 p.Met512Val Uncertain significance Single submitter
OCA2 p.Met748Val Uncertain significance Single submitter
OCA2 p.Met825Ile Uncertain significance Single submitter
OCA2 p.Phe292Leu Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Phe593Ser Likely pathogenic Single submitter
oculocutaneous albinism type 2
OCA2 p.Phe593Tyr Uncertain significance Single submitter
oculocutaneous albinism type 2
OCA2 p.Pro198Leu Conflicting Single submitter
OCA2-related disorder
OCA2 p.Pro211Leu Conflicting Single submitter
OCA2-related disorder
OCA2 p.Pro374Ser Uncertain significance Single submitter
OCA2 p.Ser220Arg Uncertain significance Single submitter
OCA2 p.Ser542Arg Uncertain significance Single submitter
OCA2 p.Ser562Arg Uncertain significance Single submitter
OCA2 p.Ser756Ile Uncertain significance Single submitter
OCA2 p.Ser805Cys Uncertain significance Single submitter
OCA2 p.Thr291Pro Uncertain significance Single submitter
OCA2 p.Thr445Ala Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Thr509Ala Uncertain significance Single submitter
OCA2 p.Thr628Arg Conflicting Single submitter
OCA2 p.Thr745Ala Uncertain significance Single submitter
OCA2 p.Tyr703His Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Val350Met Conflicting Single submitter
oculocutaneous albinism
OCA2 p.Val379Met Uncertain significance Single submitter
Inborn genetic diseases
OCA2 p.Val380Leu Uncertain significance Single submitter
OCA2 p.Val571Ala Uncertain significance Single submitter
OCA2 p.Val761Ala Uncertain significance Single submitter

All OCA2 variants

Pathogenic 113

c.1044+1G>T Multiple submitters OCA2-related disorder
c.1182+1G>A Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.1365-1G>A Multiple submitters oculocutaneous albinism type 2
c.1951+1215G>T Multiple submitters oculocutaneous albinism type 2
c.2244+1G>A Multiple submitters oculocutaneous albinism type 2
c.2244+2T>G Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.2338+1G>T Multiple submitters OCA2-related disorder
c.808-3C>G Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Arg136Ter Multiple submitters oculocutaneous albinism
p.Arg137fs Multiple submitters oculocutaneous albinism type 2
p.Asn476Asp Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Cys793Phe Multiple submitters OCA2-related disorder
p.Gln58Ter Multiple submitters OCA2-related disorder
p.Glu253fs Multiple submitters oculocutaneous albinism type 2
p.Gly41fs Multiple submitters
p.Gly775Arg Multiple submitters Inborn genetic diseases
p.Gly779fs Multiple submitters
p.His615fs Multiple submitters oculocutaneous albinism type 2
p.Leu189fs Multiple submitters oculocutaneous albinism
p.Leu611Pro Multiple submitters oculocutaneous albinism type 2
p.Lys614fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Phe685fs Multiple submitters oculocutaneous albinism
p.Ser289fs Multiple submitters oculocutaneous albinism type 2
p.Ser360Phe Multiple submitters oculocutaneous albinism
p.Ser732Ter Multiple submitters oculocutaneous albinism type 2
c.1045-1G>T Single submitter
c.1045-2A>G Single submitter
c.1240-1G>T Single submitter oculocutaneous albinism type 2
c.1240-2A>C Single submitter
c.1503+1G>A Single submitter
c.1637-2A>G Single submitter oculocutaneous albinism type 2
c.1784+1G>C Single submitter
c.1843-1G>T Single submitter
c.1951+1G>C Single submitter oculocutaneous albinism type 2
c.1951+2T>A Single submitter
c.1951+2T>C Single submitter
c.2139+1G>T Single submitter
c.2338+1G>A Single submitter
c.2339-2A>T Single submitter
c.574-1G>C Single submitter
c.646+1G>T Single submitter oculocutaneous albinism type 2
c.647-?_807+?del Single submitter oculocutaneous albinism type 2
c.647-?_890+?del Single submitter oculocutaneous albinism type 2
c.808-1G>C Single submitter
c.808-2A>G Single submitter oculocutaneous albinism type 2
c.808-2A>T Single submitter
p.Ala306fs Single submitter
p.Ala424fs Single submitter
p.Ala470fs Single submitter
p.Ala480fs Single submitter Inborn genetic diseases
p.Ala510fs Single submitter
p.Ala654fs Single submitter oculocutaneous albinism type 2
p.Arg421fs Single submitter
p.Arg465fs Single submitter
p.Arg9fs Single submitter
p.Asp231fs Single submitter
p.Cys112Ter Single submitter
p.Cys410fs Single submitter
p.Cys826fs Single submitter
p.Gln256Ter Single submitter
p.Gln269Ter Single submitter
p.Gln309Ter Single submitter
p.Gln312Ter Single submitter
p.Gln321Ter Single submitter
p.Gln58fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Gln612Ter Single submitter
p.Glu124fs Single submitter
p.Glu143Ter Single submitter
p.Glu154Ter Single submitter
p.Glu610Ter Single submitter
p.Glu671fs Single submitter
p.Glu67fs Single submitter
p.Gly775Val Single submitter
p.His675fs Single submitter
p.Ile302fs Single submitter
p.Ile484fs Single submitter oculocutaneous albinism type 2
p.Ile514fs Single submitter
p.Ile646fs Single submitter
p.Ile672fs Single submitter OCA2-related disorder
p.Ile785fs Single submitter
p.Leu436fs Single submitter
p.Leu460Pro Single submitter
p.Leu622Pro Single submitter
p.Leu688Pro Single submitter oculocutaneous albinism type 2
p.Met501fs Single submitter
p.Phe684fs Single submitter
p.Phe744fs Single submitter oculocutaneous albinism type 2
p.Pro244fs Single submitter
p.Pro541fs Single submitter
p.Ser161fs Single submitter
p.Ser220delinsThrTer Single submitter
p.Ser48Ter Single submitter
p.Ser732Leu Single submitter
p.Ser92fs Single submitter
p.Thr226fs Single submitter
p.Thr275fs Single submitter OCA2-related disorder
p.Thr450fs Single submitter
p.Thr592fs Single submitter
p.Trp134fs Single submitter
p.Trp204Ter Single submitter
p.Trp274Gln Single submitter oculocutaneous albinism type 2
p.Trp274Ter Single submitter
p.Trp423Ter Single submitter
p.Trp604Ter Single submitter
p.Trp660fs Single submitter
p.Trp660Ter Single submitter
p.Tyr322Ter Single submitter
p.Tyr802Ter Single submitter
p.Tyr827Ter Single submitter
p.Val294fs Single submitter
p.Val300fs Single submitter
p.Val728fs Single submitter
p.Pro374fs No assertion criteria oculocutaneous albinism type 2

Pathogenic/Likely pathogenic 76

c.1044+2T>C Multiple submitters OCA2-related disorder
c.1045-15T>G Multiple submitters OCA2-related disorder
c.1503+5G>A Multiple submitters OCA2-related disorder
c.1504-2A>G Multiple submitters OCA2-related disorder
c.1784+1G>A Multiple submitters OCA2-related disorder
c.1842+1G>T Multiple submitters oculocutaneous albinism
c.1842+2T>C Multiple submitters OCA2-related disorder
c.1951+1G>A Multiple submitters oculocutaneous albinism type 2
c.2080-1G>A Multiple submitters oculocutaneous albinism type 2
c.2338+2T>G Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.2433-22889T>A Multiple submitters oculocutaneous albinism type 2
c.647-1G>A Multiple submitters OCA2-related disorder
c.807+1G>T Multiple submitters oculocutaneous albinism type 2
p.363ALA[1] Multiple submitters oculocutaneous albinism type 2
p.Ala334Thr Multiple submitters Inborn genetic diseases
p.Ala334Val Multiple submitters OCA2-related disorder
p.Ala55fs Multiple submitters OCA2-related disorder
p.Ala686fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Ala696fs Multiple submitters OCA2-related disorder
p.Ala787Thr Multiple submitters oculocutaneous albinism type 2
p.Ala787Val Multiple submitters OCA2-related disorder
p.Ala831Pro Multiple submitters oculocutaneous albinism
p.Arg165Ter Multiple submitters oculocutaneous albinism type 2
p.Arg290Gly Multiple submitters OCA2-related disorder ⚠
p.Arg53fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Arg572Cys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Arg720Cys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Arg811Ser Multiple submitters oculocutaneous albinism type 2 ⚠
p.Asn273_Trp274delinsLysVal Multiple submitters OCA2-related disorder
p.Asn476Ser Multiple submitters oculocutaneous albinism
p.Asn489Asp Multiple submitters OCA2-related disorder
p.Asn603fs Multiple submitters OCA2-related disorder
p.Asp486fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Cys793Tyr Multiple submitters oculocutaneous albinism type 2
p.Glu125fs Multiple submitters oculocutaneous albinism type 2
p.Glu135Ter Multiple submitters OCA2-related disorder
p.Glu96Ala Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Gly359Arg Multiple submitters OCA2-related disorder
p.Gly359Asp Multiple submitters OCA2-related disorder
p.Gly393Val Multiple submitters OCA2-related disorder
p.Gly44fs Multiple submitters Inborn genetic diseases
p.Gly485Arg Multiple submitters oculocutaneous albinism type 2
p.Gly775Asp Multiple submitters oculocutaneous albinism type 2
p.Gly775Ser Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Gly780Asp Multiple submitters oculocutaneous albinism
p.Gly782Arg Multiple submitters OCA2-related disorder
p.Gly801Ter Multiple submitters OCA2-related disorder
p.Ile473Asn Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Ile712fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Ile742fs Multiple submitters OCA2-related disorder
p.Leu207_Leu212del Multiple submitters OCA2-related disorder
p.Leu316_Leu317insTer Multiple submitters OCA2-related disorder
p.Leu364fs Multiple submitters OCA2-related disorder
p.Leu417fs Multiple submitters oculocutaneous albinism type 2
p.Leu527Arg Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Leu661Ter Multiple submitters OCA2-related disorder
p.Lys155Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Phe638fs Multiple submitters oculocutaneous albinism
p.Pro211Ala Multiple submitters OCA2-related disorder ⚠
p.Pro25fs Multiple submitters oculocutaneous albinism type 2
p.Pro743Leu Multiple submitters OCA2-related disorder
p.Ser148fs Multiple submitters OCA2-related disorder
p.Ser195Gly Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Ser59fs Multiple submitters oculocutaneous albinism type 2
p.Ser788Leu Multiple submitters OCA2-related disorder
p.Thr353fs Multiple submitters oculocutaneous albinism type 2
p.Thr404Met Multiple submitters Albinism or congenital nystagmus
p.Thr450Lys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Thr450Met Multiple submitters OCA2-related disorder
p.Trp679Cys Multiple submitters OCA2-related disorder
p.Tyr277Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Tyr537Ter Multiple submitters OCA2-related disorder
p.Val314Gly Multiple submitters OCA2-related disorder
p.Val443Ile Multiple submitters Autosomal recessive OCA2-related disorders
p.Val519fs Multiple submitters OCA2-related disorder
p.Val726fs Multiple submitters OCA2-related disorder

Likely pathogenic 125

c.1116+2T>C Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.1239+2T>A Multiple submitters OCA2-related disorder
c.2245-1G>A Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.327-2A>G Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.515+1G>A Multiple submitters oculocutaneous albinism type 2
c.647-12_647-1del Multiple submitters OCA2-related disorder
c.890+1G>A Multiple submitters oculocutaneous albinism type 2
p.Ala658Val Multiple submitters oculocutaneous albinism type 2
p.Arg720His Multiple submitters oculocutaneous albinism type 2
p.Asn442del Multiple submitters OCA2-related disorder
p.Gln106Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Glu550Lys Multiple submitters oculocutaneous albinism type 2
p.Gly485Val Multiple submitters oculocutaneous albinism
p.Gly657Val Multiple submitters oculocutaneous albinism type 2
p.Ile739Thr Multiple submitters oculocutaneous albinism ⚠
p.Leu521del Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Lys713= Multiple submitters oculocutaneous albinism
p.Phe505Ser Multiple submitters oculocutaneous albinism ⚠
p.Trp554Arg Multiple submitters oculocutaneous albinism type 2
c.1044+1G>A Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.1045-10T>G Single submitter oculocutaneous albinism type 2
c.1045-1G>A Single submitter OCA2-related disorder
c.1116+6T>C Single submitter oculocutaneous albinism type 2
c.1117-1G>C Single submitter
c.1118_1119del Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.1239+1G>C Single submitter
c.1239+1G>T Single submitter
c.1240-1G>C Single submitter
c.1364+1G>T Single submitter
c.1636+1G>T Single submitter
c.1636+2T>A Single submitter
c.1636+2T>G Single submitter
c.1842_1842+2delinsAGGA Single submitter oculocutaneous albinism type 2
c.1843-408_2244+9331del Single submitter oculocutaneous albinism type 2
c.2079+1G>A Single submitter
c.2080-158A>G Single submitter oculocutaneous albinism type 2
c.2080-2A>T Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.2244+1G>C Single submitter oculocutaneous albinism type 2
c.2244+2T>C Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.2245-3_2245-2del Single submitter oculocutaneous albinism type 2
c.227+1_227+15del Single submitter
c.227+1G>T Single submitter
c.228-2A>G Single submitter
c.2432+1G>A Single submitter oculocutaneous albinism
c.2433-14T>G Single submitter
c.2433-44709A>G Single submitter oculocutaneous albinism type 2
c.516-2A>G Single submitter
c.573+2_573+3del Single submitter
c.573+2T>C Single submitter OCA2-related disorder
c.646+3A>G Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.808-1_817del Single submitter oculocutaneous albinism type 2
c.891-10C>A Single submitter
c.891-1G>A Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
c.891-2A>G Single submitter
p.Ala355Glu Single submitter oculocutaneous albinism type 2
p.Ala424_Met425insAla Single submitter OCA2-related disorder
p.Ala570fs Single submitter oculocutaneous albinism type 2
p.Ala658fs Single submitter OCA2-related disorder
p.Ala773fs Single submitter
p.Ala776Asp Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Arg167fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Arg419Pro Single submitter
p.Arg811Lys Single submitter oculocutaneous albinism type 2 ⚠
p.Asp441Asn Single submitter ⚠
p.Asp619Val Single submitter OCA2-related disorder
p.Asp740Ter Single submitter oculocutaneous albinism type 2
p.Cys430Ter Single submitter OCA2-related disorder
p.Gln330Ter Single submitter oculocutaneous albinism type 2
p.Gln559Ter Single submitter oculocutaneous albinism type 2
p.Gln799Ter Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Glu671Val Single submitter oculocutaneous albinism type 2
p.Glu678_Ala680delinsTer Single submitter OCA2-related disorder
p.Glu678Lys Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Gly420fs Single submitter
p.Gly620= Single submitter oculocutaneous albinism type 2
p.Gly657Arg Single submitter oculocutaneous albinism type 2
p.Gly780Ser Single submitter oculocutaneous albinism type 2
p.His552fs Single submitter oculocutaneous albinism type 2
p.His697Tyr Single submitter oculocutaneous albinism type 2 ⚠
p.His78fs Single submitter OCA2-related disorder
p.Ile667Phe Single submitter OCA2-related disorder ⚠
p.Leu207fs Single submitter OCA2-related disorder
p.Leu212fs Single submitter oculocutaneous albinism type 2
p.Leu236fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Leu317fs Single submitter oculocutaneous albinism type 2
p.Leu3fs Single submitter oculocutaneous albinism type 2
p.Leu417Pro Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Leu436Arg Single submitter
p.Leu440Ser Single submitter oculocutaneous albinism type 2
p.Leu503_Ala510del Single submitter OCA2-related disorder
p.Leu688Phe Single submitter
p.Leu753Pro Single submitter OCA2-related disorder
p.Lys625Arg Single submitter oculocutaneous albinism type 2 ⚠
p.Met1Val Single submitter oculocutaneous albinism type 2
p.Met395Leu Single submitter
p.Met425fs Single submitter
p.Phe593Ser Single submitter oculocutaneous albinism type 2 ⚠
p.Phe642fs Single submitter OCA2-related disorder
p.Phe684Val Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Pro488fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Pro750fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Ser216Pro Single submitter oculocutaneous albinism
p.Ser242fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Ser402fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Ser494Phe Single submitter oculocutaneous albinism type 2
p.Thr275Ala Single submitter OCA2-related disorder ⚠
p.Thr628fs Single submitter OCA2-related disorder
p.Trp127Ter Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Trp652Ter Single submitter OCA2-related disorder
p.Tyr138Ter Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Tyr827His Single submitter oculocutaneous albinism type 2
p.Val270fs Single submitter oculocutaneous albinism type 2
p.Val467Asp Single submitter
p.Val677Ala Single submitter
p.Val751Met Single submitter oculocutaneous albinism type 2
c.1182+2dup No assertion criteria Nonsyndromic Oculocutaneous Albinism
c.1951+4A>G No assertion criteria Nonsyndromic Oculocutaneous Albinism
c.2080-1G>T No assertion criteria OCA2-related disorder
c.646+1825_807+679del No assertion criteria albinism
p.Ala787Glu No assertion criteria Nonsyndromic Oculocutaneous Albinism
p.Arg352Ser No assertion criteria Nonsyndromic Oculocutaneous Albinism
p.Gln330fs No assertion criteria Nonsyndromic Oculocutaneous Albinism
p.Leu429Pro No assertion criteria oculocutaneous albinism type 2
p.Pro487His No assertion criteria oculocutaneous albinism type 2
p.Val553fs No assertion criteria oculocutaneous albinism type 2

Conflicting classifications of pathogenicity 113

c.1045-9T>G Single submitter oculocutaneous albinism type 2
c.1117-17T>C Single submitter oculocutaneous albinism type 2
c.1117-20A>G Single submitter
c.1239+5G>C Single submitter OCA2-related disorder
c.1364+4C>T Single submitter oculocutaneous albinism type 2
c.1364+5G>A Single submitter
c.1503+4C>T Single submitter
c.1503+7A>T Single submitter oculocutaneous albinism type 2
c.1784+5C>T Single submitter
c.1785-7C>G Single submitter oculocutaneous albinism type 2
c.2079+5G>T Single submitter
c.2245-6C>A Single submitter oculocutaneous albinism type 2
c.2245-6C>G Single submitter oculocutaneous albinism type 2
c.2432+11A>G Single submitter oculocutaneous albinism type 2
c.573+3G>A Single submitter
c.573+5G>A Single submitter
c.574-19A>G Single submitter oculocutaneous albinism type 2
c.646+1G>A Single submitter
c.647-3G>A Single submitter
p.Ala14Thr Single submitter Inborn genetic diseases ⚠
p.Ala14Val Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Ala16= Single submitter oculocutaneous albinism type 2
p.Ala339Glu Single submitter ⚠
p.Ala339Ser Single submitter ⚠
p.Ala368Val Single submitter Albinism or congenital nystagmus ⚠
p.Ala481Thr Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Ala694Thr Single submitter oculocutaneous albinism type 2 ⚠
p.Ala723= Single submitter oculocutaneous albinism type 2
p.Ala765Thr Single submitter oculocutaneous albinism type 2 ⚠
p.Arg10Gln Single submitter ⚠
p.Arg172Thr Single submitter OCA2-related disorder ⚠
p.Arg173Cys Single submitter ⚠
p.Arg243Cys Single submitter oculocutaneous albinism ⚠
p.Arg266Gln Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Arg305Gln Single submitter oculocutaneous albinism type 2 ⚠
p.Arg324= Single submitter oculocutaneous albinism type 2
p.Arg36Cys Single submitter oculocutaneous albinism type 2 ⚠
p.Arg373Ile Single submitter OCA2-related disorder ⚠
p.Arg419Trp Single submitter OCA2-related disorder ⚠
p.Arg455Gly Single submitter oculocutaneous albinism type 2 ⚠
p.Arg455Lys Single submitter
p.Arg555Cys Single submitter oculocutaneous albinism ⚠
p.Arg572Pro Single submitter ⚠
p.Arg588Trp Single submitter oculocutaneous albinism type 2 ⚠
p.Asn442= Single submitter oculocutaneous albinism type 2
p.Asn741Lys Single submitter ⚠
p.Asp441Gly Single submitter oculocutaneous albinism ⚠
p.Asp486Tyr Single submitter oculocutaneous albinism type 2 ⚠
p.Asp619= Single submitter oculocutaneous albinism type 2
p.Cys777Tyr Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Glu567Lys Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Glu693= Single submitter OCA2-related disorder
p.Glu760Val Single submitter oculocutaneous albinism ⚠
p.Glu96Lys Single submitter ⚠
p.Gly27Arg Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.His222= Single submitter oculocutaneous albinism type 2
p.His552= Single submitter oculocutaneous albinism type 2
p.His757Gln Single submitter ⚠
p.His78Tyr Single submitter Inborn genetic diseases ⚠
p.Ile349= Single submitter Inborn genetic diseases
p.Ile370Thr Single submitter oculocutaneous albinism type 2 ⚠
p.Ile544Thr Single submitter OCA2-related disorder
p.Ile617Thr Single submitter OCA2-related disorder ⚠
p.Ile634Asn Single submitter OCA2-related disorder ⚠
p.Leu254Arg Single submitter OCA2-related disorder ⚠
p.Leu361Val Single submitter oculocutaneous albinism type 2 ⚠
p.Leu440Phe Single submitter OCA2-related disorder ⚠
p.Leu447Pro Single submitter Inborn genetic diseases ⚠
p.Leu460Phe Single submitter OCA2-related disorder ⚠
p.Leu460Val Single submitter ⚠
p.Leu520= Single submitter oculocutaneous albinism type 2
p.Leu582= Single submitter oculocutaneous albinism type 2
p.Leu661Phe Single submitter oculocutaneous albinism type 2 ⚠
p.Leu674Val Single submitter OCA2-related disorder ⚠
p.Leu72= Single submitter oculocutaneous albinism type 2
p.Leu734Arg Single submitter oculocutaneous albinism type 2 ⚠
p.Lys179Glu Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Lys625Asn Single submitter ⚠
p.Met425del Single submitter oculocutaneous albinism type 2
p.Met446Val Single submitter oculocutaneous albinism type 2 ⚠
p.Met825Leu Single submitter Inborn genetic diseases ⚠
p.Phe292Leu Single submitter oculocutaneous albinism ⚠
p.Phe385Ile Single submitter OCA2-related disorder ⚠
p.Phe774= Single submitter oculocutaneous albinism type 2
p.Phe804Leu Single submitter oculocutaneous albinism type 2 ⚠
p.Phe809Ile Single submitter oculocutaneous albinism ⚠
p.Pro15= Single submitter oculocutaneous albinism type 2
p.Pro198= Single submitter oculocutaneous albinism type 2
p.Pro198Leu Single submitter OCA2-related disorder ⚠
p.Pro211Leu Single submitter OCA2-related disorder ⚠
p.Pro211Ser Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Pro766Thr Single submitter oculocutaneous albinism type 2 ⚠
p.Ser191Phe Single submitter
p.Ser216= Single submitter oculocutaneous albinism type 2
p.Ser360= Single submitter Albinism or congenital nystagmus
p.Ser641Leu Single submitter OCA2-related disorder ⚠
p.Ser736Leu Single submitter OCA2-related disorder ⚠
p.Thr22Met Single submitter Inborn genetic diseases ⚠
p.Thr387Met Single submitter OCA2-related disorder ⚠
p.Thr482Pro Single submitter Inborn genetic diseases ⚠
p.Thr628Arg Single submitter ⚠
p.Trp652Arg Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.Trp679Arg Single submitter ⚠
p.Tyr342Cys Single submitter OCA2-related disorder ⚠
p.Tyr802fs Single submitter oculocutaneous albinism type 2
p.Val251Met Single submitter oculocutaneous albinism type 2 ⚠
p.Val327Ile Single submitter Inborn genetic diseases ⚠
p.Val350Met Single submitter oculocutaneous albinism ⚠
p.Val435Ile Single submitter oculocutaneous albinism type 2 ⚠
p.Val443Ala Single submitter oculocutaneous albinism type 2 ⚠
p.Val493= Single submitter oculocutaneous albinism type 2
p.Val715= Single submitter oculocutaneous albinism type 2
p.Val833Met Single submitter oculocutaneous albinism type 2 ⚠

Benign 73

c.1044+59T>C Multiple submitters
c.1364+113G>A Multiple submitters
c.1364+26A>G Multiple submitters
c.1636+78T>C Multiple submitters
c.1784+109G>T Multiple submitters
c.1784+161C>T Multiple submitters
c.1784+71G>A Multiple submitters
c.1784+93G>A Multiple submitters
c.1785-47A>G Multiple submitters oculocutaneous albinism type 2
c.1951+109A>G Multiple submitters
c.1951+45G>C Multiple submitters
c.2079+126A>G Multiple submitters
c.2139+106T>C Multiple submitters
c.2139+111A>G Multiple submitters
c.2139+22A>T Multiple submitters
c.2244+127G>A Multiple submitters
c.2244+163T>C Multiple submitters
c.2244+18A>G Multiple submitters
c.2244+25C>G Multiple submitters oculocutaneous albinism type 2
c.2338+75T>C Multiple submitters
c.2339-128C>T Multiple submitters
c.326+151C>T Multiple submitters
c.327-145A>G Multiple submitters
c.574-39T>C Multiple submitters
c.891-234G>A Multiple submitters
c.-21-129G>A Multiple submitters
p.Ala776= Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
p.Arg419Gln Multiple submitters oculocutaneous albinism type 2
p.Gly371= Multiple submitters oculocutaneous albinism type 2
p.His584= Multiple submitters oculocutaneous albinism type 2
p.His615Arg Multiple submitters oculocutaneous albinism type 2 ⚠
p.Ile722Thr Multiple submitters oculocutaneous albinism type 2
p.Pro241Arg Multiple submitters oculocutaneous albinism type 2
p.Ser736= Multiple submitters oculocutaneous albinism type 2
p.Ser788= Multiple submitters oculocutaneous albinism type 2
c.1117-300A>G Single submitter
c.1182+276dup Single submitter
c.1504-320GTTT[2] Single submitter
c.1785-293C>T Single submitter
c.1842+262G>A Single submitter
c.1952-209_1952-208insA Single submitter
c.1952-270A>T Single submitter
c.2079+145T>C Single submitter
c.2080-179G>T Single submitter
c.2139+64dup Single submitter
c.2140-134C>T Single submitter
c.2140-183A>G Single submitter
c.2140-294C>T Single submitter
c.2244+198dup Single submitter
c.2244+210C>T Single submitter
c.2244+259del Single submitter
c.2244+279A>G Single submitter
c.2244+299G>C Single submitter
c.2244+334CT[6] Single submitter
c.2244+344_2244+345del Single submitter
c.2245-221C>T Single submitter
c.227+258T>A Single submitter
c.2338+179A>G Single submitter
c.2338+207C>T Single submitter
c.2432+178C>T Single submitter
c.2432+183G>A Single submitter
c.326+17del Single submitter
c.326+17dup Single submitter
c.326+210A>G Single submitter
c.326+231C>G Single submitter
c.516-10del Single submitter
c.573+149G>A Single submitter
c.646+10dup Single submitter
c.646+113_646+114insCCATTCTCAC Single submitter
c.807+299del Single submitter
c.-21-327T>C Single submitter
c.*50A>G Single submitter oculocutaneous albinism type 2
p.His378= Single submitter

Benign/Likely benign 24

c.1183-4A>G Multiple submitters oculocutaneous albinism type 2
c.1365-15C>T Multiple submitters oculocutaneous albinism type 2
c.1842+17C>T Multiple submitters
c.1952-16A>G Multiple submitters
c.574-18C>T Multiple submitters
c.647-4C>T Multiple submitters
p.Ala336Val Multiple submitters oculocutaneous albinism type 2
p.Ala355= Multiple submitters oculocutaneous albinism type 2
p.Ala42= Multiple submitters oculocutaneous albinism type 2
p.Arg266Trp Multiple submitters oculocutaneous albinism type 2
p.Arg305Trp Multiple submitters oculocutaneous albinism type 2
p.Arg560His Multiple submitters oculocutaneous albinism type 2 ⚠
p.Cys517= Multiple submitters oculocutaneous albinism type 2
p.Glu458= Multiple submitters
p.Gly13Ser Multiple submitters
p.Gly340= Multiple submitters
p.Met318Ile Multiple submitters
p.Pro12= Multiple submitters Inborn genetic diseases
p.Ser48= Multiple submitters oculocutaneous albinism type 2
p.Thr122Ile Multiple submitters Inborn genetic diseases
p.Thr226= Multiple submitters
p.Tyr342= Multiple submitters oculocutaneous albinism type 2
p.Val629= Multiple submitters oculocutaneous albinism type 2
p.Val834Met Multiple submitters

Likely benign 527

Showing the top 300 by review status; the full set is in the sitemap.

c.1044+13C>T Multiple submitters
c.1116+16C>T Multiple submitters
c.1182+18C>G Multiple submitters
c.1182+18C>T Multiple submitters
c.1182+19G>A Multiple submitters
c.1240-18C>G Multiple submitters
c.1364+20C>T Multiple submitters
c.1365-10T>C Multiple submitters
c.1365-9T>C Multiple submitters
c.1636+17C>T Multiple submitters
c.1637-18G>A Multiple submitters
c.1784+15C>T Multiple submitters
c.1785-17C>T Multiple submitters
c.1843-15G>A Multiple submitters
c.1951+15G>A Multiple submitters
c.1951+19T>C Multiple submitters
c.2140-15T>C Multiple submitters
c.2245-8C>G Multiple submitters
c.2433-19A>G Multiple submitters
c.327-8C>G Multiple submitters
c.515+10C>G Multiple submitters
c.890+10C>T Multiple submitters
p.Ala14= Multiple submitters
p.Ala33= Multiple submitters
p.Ala414= Multiple submitters
p.Ala506= Multiple submitters
p.Ala56= Multiple submitters
p.Ala686= Multiple submitters
p.Ala687= Multiple submitters
p.Ala735= Multiple submitters
p.Ala787= Multiple submitters
p.Arg720= Multiple submitters
p.Asn790= Multiple submitters
p.Asp258= Multiple submitters
p.Asp7= Multiple submitters
p.Gln321= Multiple submitters
p.Gly13= Multiple submitters
p.His549= Multiple submitters
p.His757= Multiple submitters
p.Ile333= Multiple submitters
p.Ile484= Multiple submitters
p.Leu166= Multiple submitters
p.Leu232= Multiple submitters
p.Leu338= Multiple submitters
p.Leu623= Multiple submitters
p.Leu627= Multiple submitters
p.Lys548= Multiple submitters
p.Phe407= Multiple submitters
p.Pro211= Multiple submitters
p.Pro241Leu Multiple submitters
p.Pro280= Multiple submitters
p.Pro525= Multiple submitters
p.Thr275= Multiple submitters
p.Thr299= Multiple submitters
p.Thr335= Multiple submitters
p.Thr387= Multiple submitters
p.Thr450= Multiple submitters
p.Thr509= Multiple submitters
p.Thr681= Multiple submitters
p.Val467= Multiple submitters
c.1044+10A>T Single submitter
c.1044+13C>A Single submitter
c.1044+14C>T Single submitter
c.1044+20C>G Single submitter
c.1044+20C>T Single submitter
c.1045-16C>T Single submitter
c.1045-18T>C Single submitter
c.1045-19T>A Single submitter
c.1045-26C>T Single submitter
c.1045-28C>T Single submitter
c.1045-5del Single submitter
c.1045-7T>C Single submitter
c.1116+13A>G Single submitter
c.1116+16C>A Single submitter
c.1116+18C>T Single submitter
c.1116+7del Single submitter
c.1117-13G>A Single submitter
c.1117-14T>C Single submitter
c.1117-16T>G Single submitter
c.1117-33G>A Single submitter
c.1117-34C>T Single submitter
c.1117-4G>A Single submitter
c.1117-5T>C Single submitter
c.1117-9del Single submitter
c.1117-9T>C Single submitter
c.1182+15C>T Single submitter
c.1182+19G>C Single submitter
c.1182+9A>C Single submitter
c.1182+9del Single submitter
c.1183-10T>C Single submitter
c.1183-11T>C Single submitter
c.1183-18T>G Single submitter
c.1183-19CTT[2] Single submitter
c.1183-5_1183-4inv Single submitter
c.1183-6C>A Single submitter
c.1183-6C>T Single submitter
c.1183-7C>G Single submitter
c.1183-8C>T Single submitter
c.1239+14T>G Single submitter
c.1239+18T>C Single submitter
c.1239+8T>G Single submitter
c.1240-14G>A Single submitter
c.1240-16G>C Single submitter
c.1240-17T>C Single submitter
c.1240-24CT[3] Single submitter
c.1240-4C>T Single submitter
c.1240-5del Single submitter
c.1240-9T>C Single submitter
c.1364+14C>G Single submitter
c.1364+16C>T Single submitter
c.1364+18G>T Single submitter
c.1364+20C>A Single submitter
c.1365-11A>G Single submitter
c.1503+13A>G Single submitter
c.1503+14del Single submitter
c.1503+14T>C Single submitter
c.1503+9C>A Single submitter
c.1504-13T>C Single submitter
c.1504-15C>T Single submitter
c.1504-16C>T Single submitter
c.1504-17C>G Single submitter
c.1504-18C>T Single submitter
c.1504-8A>G Single submitter
c.1636+13G>A Single submitter
c.1636+7A>G Single submitter
c.1636+8C>T Single submitter
c.1637-12C>G Single submitter
c.1637-13C>T Single submitter
c.1637-14T>A Single submitter
c.1637-16C>G Single submitter
c.1637-17C>T Single submitter
c.1637-19C>T Single submitter
c.1637-7T>C Single submitter
c.1784+10G>A Single submitter
c.1784+11G>C Single submitter
c.1784+9C>A Single submitter
c.1784+9C>T Single submitter
c.1785-14_1785-12del Single submitter
c.1785-19C>G Single submitter
c.1785-7C>T Single submitter
c.1785-9C>T Single submitter
c.1842+13C>G Single submitter
c.1842+13C>T Single submitter
c.1843-11C>T Single submitter
c.1843-12del Single submitter
c.1843-18G>A Single submitter
c.1843-19T>C Single submitter
c.1952-11C>T Single submitter
c.1952-14T>A Single submitter
c.1952-14T>C Single submitter
c.1952-16A>C Single submitter
c.1952-18C>A Single submitter
c.1952-6T>C Single submitter
c.2079+11A>G Single submitter
c.2079+12G>A Single submitter
c.2079+12G>C Single submitter
c.2079+18T>C Single submitter
c.2079+7T>C Single submitter
c.2080-11C>T Single submitter
c.2080-19C>A Single submitter
c.2080-4C>G Single submitter
c.2139+13C>G Single submitter
c.2139+15A>G Single submitter
c.2139+15A>T Single submitter
c.2139+16T>C Single submitter
c.2139+19T>A Single submitter
c.2139+19T>G Single submitter
c.2139+9A>G Single submitter
c.2140-10C>G Single submitter
c.2140-11C>T Single submitter
c.2140-16A>G Single submitter
c.2140-18C>T Single submitter
c.2140-19G>T Single submitter
c.2140-20T>A Single submitter
c.2140-3del Single submitter
c.2140-8_2140-6del Single submitter
c.2140-8C>T Single submitter
c.2244+10A>G Single submitter
c.2244+12A>G Single submitter
c.2244+15T>A Single submitter
c.2244+16C>T Single submitter
c.2244+17_2244+20del Single submitter
c.2245-12C>A Single submitter
c.2245-12C>T Single submitter
c.2245-14C>T Single submitter
c.2245-16T>C Single submitter
c.2245-16T>G Single submitter
c.2245-17G>A Single submitter
c.2245-18T>C Single submitter
c.2245-19A>G Single submitter
c.2245-6C>T Single submitter
c.227+13T>C Single submitter
c.227+15G>A Single submitter
c.227+16T>C Single submitter
c.228-14C>T Single submitter
c.228-18C>T Single submitter
c.2338+10T>C Single submitter
c.2338+13dup Single submitter
c.2338+14G>T Single submitter
c.2338+16C>T Single submitter
c.2338+18G>A Single submitter
c.2338+18G>C Single submitter
c.2338+18G>T Single submitter
c.2338+19C>T Single submitter
c.2338+8G>A Single submitter
c.2338+8G>C Single submitter
c.2338+9C>T Single submitter
c.2339-3del Single submitter
c.2432+15C>A Single submitter
c.2432+17T>G Single submitter
c.2432+19del Single submitter
c.2432+8del Single submitter
c.2432+8T>G Single submitter
c.2433-11_2433-10del Single submitter
c.2433-9G>T Single submitter
c.326+10T>C Single submitter
c.326+13C>T Single submitter
c.326+17C>G Single submitter
c.326+17C>T Single submitter
c.326+18T>C Single submitter
c.326+20A>G Single submitter
c.327-16C>T Single submitter
c.327-4C>G Single submitter
c.327-5T>C Single submitter
c.515+10C>T Single submitter
c.515+11T>G Single submitter
c.515+14G>A Single submitter
c.515+19C>G Single submitter
c.515+20C>A Single submitter
c.515+7G>A Single submitter
c.515+8G>A Single submitter
c.515+9A>G Single submitter
c.516-11T>G Single submitter
c.516-13T>G Single submitter
c.516-15C>T Single submitter
c.516-16A>G Single submitter
c.516-20C>T Single submitter
c.516-4G>A Single submitter
c.516-4G>C Single submitter
c.516-7C>T Single submitter
c.573+10T>A Single submitter
c.573+14C>G Single submitter
c.573+14C>T Single submitter
c.573+16G>T Single submitter
c.573+17C>T Single submitter
c.573+19C>G Single submitter
c.573+9C>T Single submitter
c.574-13C>G Single submitter
c.574-13C>T Single submitter
c.574-17_574-3del Single submitter
c.574-17G>A Single submitter
c.574-19A>T Single submitter
c.574-32C>A Single submitter
c.574-4A>T Single submitter
c.646+12C>G Single submitter
c.646+12C>T Single submitter
c.646+14A>G Single submitter
c.646+17C>G Single submitter
c.646+8A>G Single submitter
c.647-10A>G Single submitter
c.647-16C>G Single submitter
c.647-19C>G Single submitter
c.647-20T>C Single submitter
c.647-5C>G Single submitter
c.647-8T>A Single submitter
c.647-9C>A Single submitter
c.647-9C>T Single submitter
c.807+10A>T Single submitter
c.807+11T>C Single submitter
c.807+12_807+18del Single submitter
c.807+8T>A Single submitter
c.808-15C>T Single submitter
c.808-17T>C Single submitter
c.808-4A>G Single submitter
c.890+7T>A Single submitter
c.891-10C>G Single submitter
c.891-10C>T Single submitter
c.891-11T>C Single submitter
c.891-11T>G Single submitter
c.891-12T>C Single submitter
c.891-15T>C Single submitter
c.891-17G>A Single submitter
c.891-17G>C Single submitter
c.891-18C>T Single submitter
c.891-19T>C Single submitter
c.891-20G>T Single submitter
c.891-4G>T Single submitter
c.891-5T>C Single submitter
c.891-6C>T Single submitter
c.891-9G>A Single submitter
c.*271G>A Single submitter oculocutaneous albinism type 2
p.Ala123= Single submitter
p.Ala208= Single submitter
p.Ala233= Single submitter
p.Ala235= Single submitter
p.Ala238= Single submitter
p.Ala334= Single submitter
p.Ala339= Single submitter
p.Ala343= Single submitter
p.Ala356= Single submitter

Uncertain significance 377

Showing the top 300 by review status; the full set is in the sitemap.

c.1784+6G>A Multiple submitters oculocutaneous albinism type 2
c.1843-9_1843-6del Multiple submitters
c.2244+5G>A Multiple submitters
c.515+3A>G Multiple submitters
c.*1T>C Multiple submitters oculocutaneous albinism type 2
c.*54A>G Multiple submitters oculocutaneous albinism type 2
p.Ala185Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala29Thr Multiple submitters oculocutaneous albinism type 2 ⚠
p.Ala339Val Multiple submitters Inborn genetic diseases ⚠
p.Ala343Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala433Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala433Val Multiple submitters Inborn genetic diseases ⚠
p.Ala587Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala687Val Multiple submitters ⚠
p.Ala724Thr Multiple submitters Inborn genetic diseases
p.Ala733Pro Multiple submitters ⚠
p.Ala771Ser Multiple submitters ⚠
p.Arg136Gln Multiple submitters ⚠
p.Arg172Lys Multiple submitters oculocutaneous albinism type 2 ⚠
p.Arg265Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg416Trp Multiple submitters ⚠
p.Arg421Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg421Trp Multiple submitters oculocutaneous albinism type 2 ⚠
p.Arg53Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg560Cys Multiple submitters ⚠
p.Arg560Leu Multiple submitters ⚠
p.Arg616Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg811Gly Multiple submitters ⚠
p.Asn489Tyr Multiple submitters ⚠
p.Asn495Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp372Asn Multiple submitters ⚠
p.Asp408Asn Multiple submitters oculocutaneous albinism type 2 ⚠
p.Cys430Tyr Multiple submitters ⚠
p.Gln200His Multiple submitters ⚠
p.Gln66Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln799Lys Multiple submitters Inborn genetic diseases
p.Glu381Gly Multiple submitters Albinism or congenital nystagmus ⚠
p.Gly34= Multiple submitters
p.Gly631Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly631Arg Multiple submitters ⚠
p.Gly75Glu Multiple submitters SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ⚠
p.His699Asn Multiple submitters ⚠
p.Ile477Thr Multiple submitters ⚠
p.Ile491Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile544Val Multiple submitters Inborn genetic diseases ⚠
p.Ile667Val Multiple submitters Inborn genetic diseases ⚠
p.Ile673Asn Multiple submitters ⚠
p.Leu630Met Multiple submitters Inborn genetic diseases ⚠
p.Leu763Met Multiple submitters oculocutaneous albinism type 2 ⚠
p.Met425Thr Multiple submitters ⚠
p.Met425Val Multiple submitters ⚠
p.Met446Thr Multiple submitters oculocutaneous albinism type 2 ⚠
p.Met636Val Multiple submitters Inborn genetic diseases ⚠
p.Met816Val Multiple submitters Inborn genetic diseases ⚠
p.Met817Ile Multiple submitters ⚠
p.Phe401Leu Multiple submitters ⚠
p.Phe684Cys Multiple submitters OCA2-related disorder ⚠
p.Pro315Ser Multiple submitters oculocutaneous albinism type 2 ⚠
p.Pro525Leu Multiple submitters ⚠
p.Pro563Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro764Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro767Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser283Arg Multiple submitters oculocutaneous albinism type 2 ⚠
p.Ser402Leu Multiple submitters ⚠
p.Ser86Thr Multiple submitters Inborn genetic diseases ⚠
p.Thr275Arg Multiple submitters ⚠
p.Thr275Met Multiple submitters ⚠
p.Thr569Pro Multiple submitters Inborn genetic diseases ⚠
p.Trp177del Multiple submitters
p.Tyr322Cys Multiple submitters ⚠
p.Tyr409Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr531Cys Multiple submitters ⚠
p.Val217Met Multiple submitters Inborn genetic diseases ⚠
p.Val341Ile Multiple submitters ⚠
p.Val380Met Multiple submitters ⚠
p.Val412Ile Multiple submitters Inborn genetic diseases ⚠
p.Val452Leu Multiple submitters ⚠
p.Val519Ala Multiple submitters ⚠
p.Val633Ile Multiple submitters ⚠
p.Val792Met Multiple submitters ⚠
c.1044+3A>G Single submitter
c.1044+5C>T Single submitter
c.1045-15T>C Single submitter
c.1116+3A>G Single submitter oculocutaneous albinism type 2
c.1183-4_1183-3delinsGC Single submitter
c.1364+6C>A Single submitter
c.1365-8T>A Single submitter
c.1636+6T>G Single submitter
c.1637-3C>A Single submitter
c.1784+3A>C Single submitter
c.1784+3A>G Single submitter
c.1842+6C>T Single submitter oculocutaneous albinism type 2
c.1843-3C>T Single submitter oculocutaneous albinism type 2
c.1951+3G>A Single submitter
c.1951+5G>A Single submitter
c.1952-19T>G Single submitter
c.1952-7T>G Single submitter oculocutaneous albinism type 2
c.2079+3A>G Single submitter
c.2079+4A>C Single submitter
c.2079+4A>T Single submitter
c.2139+6A>G Single submitter
c.2245-11T>C Single submitter
c.515+6C>T Single submitter
c.516-3C>A Single submitter oculocutaneous albinism type 2
c.573+3G>C Single submitter
c.573+6T>C Single submitter
c.574-53C>G Single submitter oculocutaneous albinism type 2
c.647-1400A>G Single submitter oculocutaneous albinism type 2
c.808-10_808-9delinsTT Single submitter
c.890+5G>A Single submitter
c.-109T>C Single submitter oculocutaneous albinism type 2
c.-21-5C>G Single submitter
c.*166C>T Single submitter oculocutaneous albinism type 2
c.*21G>A Single submitter oculocutaneous albinism type 2
c.*300T>C Single submitter oculocutaneous albinism type 2
c.*367C>G Single submitter oculocutaneous albinism type 2
c.*371G>C Single submitter oculocutaneous albinism type 2
c.*410C>A Single submitter oculocutaneous albinism type 2
p.Ala123Asp Single submitter Inborn genetic diseases ⚠
p.Ala16Thr Single submitter ⚠
p.Ala259Val Single submitter Inborn genetic diseases ⚠
p.Ala313Asp Single submitter ⚠
p.Ala339Thr Single submitter ⚠
p.Ala343Pro Single submitter ⚠
p.Ala355Val Single submitter
p.Ala356Pro Single submitter oculocutaneous albinism type 2 ⚠
p.Ala368_Val369insAlaLeuAla Single submitter
p.Ala438Asp Single submitter OCA2-related disorder ⚠
p.Ala480Pro Single submitter ⚠
p.Ala481Val Single submitter Inborn genetic diseases ⚠
p.Ala510Thr Single submitter ⚠
p.Ala581Thr Single submitter ⚠
p.Ala624Pro Single submitter oculocutaneous albinism type 2
p.Ala624Thr Single submitter ⚠
p.Ala658Thr Single submitter ⚠
p.Ala687Thr Single submitter ⚠
p.Ala696Val Single submitter ⚠
p.Ala69Thr Single submitter ⚠
p.Ala787Gly Single submitter ⚠
p.Ala794Ser Single submitter Inborn genetic diseases ⚠
p.Ala794Thr Single submitter
p.Ala797Ser Single submitter
p.Arg102Ser Single submitter ⚠
p.Arg136Pro Single submitter ⚠
p.Arg173His Single submitter ⚠
p.Arg243His Single submitter ⚠
p.Arg265Gln Single submitter ⚠
p.Arg324His Single submitter ⚠
p.Arg352Gly Single submitter oculocutaneous albinism type 2 ⚠
p.Arg36Leu Single submitter ⚠
p.Arg416Gln Single submitter ⚠
p.Arg416Pro Single submitter ⚠
p.Arg419Gly Single submitter ⚠
p.Arg53Gly Single submitter ⚠
p.Arg53Trp Single submitter ⚠
p.Arg555His Single submitter ⚠
p.Arg555Pro Single submitter ⚠
p.Arg555Ser Single submitter Inborn genetic diseases ⚠
p.Arg566Cys Single submitter Inborn genetic diseases ⚠
p.Arg566His Single submitter ⚠
p.Arg572His Single submitter ⚠
p.Arg573Cys Single submitter ⚠
p.Arg573His Single submitter ⚠
p.Arg588Gln Single submitter ⚠
p.Arg589Trp Single submitter ⚠
p.Arg595= Single submitter
p.Arg595Ser Single submitter ⚠
p.Arg676Ile Single submitter ⚠
p.Arg76Lys Single submitter ⚠
p.Arg76Trp Single submitter ⚠
p.Arg88Lys Single submitter Inborn genetic diseases ⚠
p.Asn218Lys Single submitter oculocutaneous albinism type 2
p.Asn442Asp Single submitter ⚠
p.Asn461Ser Single submitter Inborn genetic diseases ⚠
p.Asn538Asp Single submitter
p.Asn640Ser Single submitter ⚠
p.Asn741Ser Single submitter ⚠
p.Asn741Tyr Single submitter ⚠
p.Asp129Gly Single submitter Inborn genetic diseases ⚠
p.Asp129His Single submitter ⚠
p.Asp157Val Single submitter ⚠
p.Asp486His Single submitter ⚠
p.Asp758Asn Single submitter ⚠
p.Asp758Gly Single submitter ⚠
p.Asp758Val Single submitter ⚠
p.Asp91Phe Single submitter
p.Cys410Arg Single submitter ⚠
p.Cys457Phe Single submitter oculocutaneous albinism type 2 ⚠
p.Cys523Tyr Single submitter ⚠
p.Cys793Gly Single submitter ⚠
p.Cys826Gly Single submitter ⚠
p.Gln269Arg Single submitter ⚠
p.Gln496His Single submitter ⚠
p.Glu107Asp Single submitter Inborn genetic diseases ⚠
p.Glu124Ala Single submitter ⚠
p.Glu128Gln Single submitter ⚠
p.Glu213Lys Single submitter ⚠
p.Glu213Val Single submitter ⚠
p.Glu248_His249insGln Single submitter
p.Glu253Lys Single submitter ⚠
p.Glu293Gly Single submitter ⚠
p.Glu298Asp Single submitter ⚠
p.Glu348= Single submitter
p.Glu386Asp Single submitter ⚠
p.Glu403Gly Single submitter ⚠
p.Glu497Asp Single submitter ⚠
p.Glu671Gly Single submitter ⚠
p.Glu693Val Single submitter Inborn genetic diseases ⚠
p.Glu702Ala Single submitter Inborn genetic diseases ⚠
p.Glu718Asp Single submitter ⚠
p.Glu760Lys Single submitter ⚠
p.Gly109= Single submitter
p.Gly109Ala Single submitter ⚠
p.Gly245Trp Single submitter ⚠
p.Gly325Arg Single submitter Inborn genetic diseases ⚠
p.Gly34Ser Single submitter ⚠
p.Gly405Arg Single submitter ⚠
p.Gly57Ala Single submitter oculocutaneous albinism type 2 ⚠
p.Gly57Arg Single submitter ⚠
p.Gly620Arg Single submitter ⚠
p.Gly657Asp Single submitter ⚠
p.Gly779Arg Single submitter ⚠
p.Gly782Glu Single submitter Albinism or congenital nystagmus ⚠
p.Gly795Arg Single submitter ⚠
p.Gly813Asp Single submitter oculocutaneous albinism type 2 ⚠
p.Gly813Ser Single submitter ⚠
p.Gly836Arg Single submitter ⚠
p.His272Arg Single submitter ⚠
p.His511Asp Single submitter ⚠
p.His584Gln Single submitter ⚠
p.His615Tyr Single submitter ⚠
p.His675Tyr Single submitter ⚠
p.His832Tyr Single submitter ⚠
p.Ile113Leu Single submitter Inborn genetic diseases ⚠
p.Ile192Val Single submitter Inborn genetic diseases ⚠
p.Ile250Thr Single submitter ⚠
p.Ile302Val Single submitter ⚠
p.Ile345Val Single submitter Inborn genetic diseases ⚠
p.Ile383Val Single submitter ⚠
p.Ile400Met Single submitter Inborn genetic diseases ⚠
p.Ile473Ser Single submitter ⚠
p.Ile477Val Single submitter ⚠
p.Ile492Thr Single submitter ⚠
p.Ile514Thr Single submitter ⚠
p.Ile516Thr Single submitter Inborn genetic diseases ⚠
p.Ile551Phe Single submitter ⚠
p.Ile617Leu Single submitter oculocutaneous albinism type 2 ⚠
p.Ile621Thr Single submitter ⚠
p.Ile742Met Single submitter ⚠
p.Ile785Thr Single submitter ⚠
p.Leu100Phe Single submitter ⚠
p.Leu203Phe Single submitter ⚠
p.Leu219Phe Single submitter ⚠
p.Leu236Pro Single submitter
p.Leu316Pro Single submitter ⚠
p.Leu344Pro Single submitter ⚠
p.Leu354Pro Single submitter Inborn genetic diseases ⚠
p.Leu376Met Single submitter Inborn genetic diseases ⚠
p.Leu388Pro Single submitter ⚠
p.Leu436Phe Single submitter ⚠
p.Leu436Val Single submitter ⚠
p.Leu448Phe Single submitter ⚠
p.Leu518His Single submitter oculocutaneous albinism type 2 ⚠
p.Leu518Val Single submitter Inborn genetic diseases ⚠
p.Leu520Phe Single submitter ⚠
p.Leu527Val Single submitter ⚠
p.Leu536Ile Single submitter ⚠
p.Leu582Pro Single submitter ⚠
p.Leu585Val Single submitter Inborn genetic diseases ⚠
p.Leu586Phe Single submitter ⚠
p.Leu650Phe Single submitter ⚠
p.Leu662Gln Single submitter ⚠
p.Leu664Phe Single submitter ⚠
p.Leu674Ile Single submitter ⚠
p.Leu752Pro Single submitter ⚠
p.Leu753Gln Single submitter ⚠
p.Lys202Arg Single submitter ⚠
p.Lys535Glu Single submitter ⚠
p.Lys614= Single submitter
p.Lys713Arg Single submitter ⚠
p.Lys713Glu Single submitter oculocutaneous albinism type 2 ⚠
p.Met357Thr Single submitter ⚠
p.Met394Ile Single submitter oculocutaneous albinism type 2 ⚠
p.Met395Thr Single submitter ⚠
p.Met395Val Single submitter oculocutaneous albinism type 2 ⚠
p.Met425Ile Single submitter ⚠
p.Met512Ile Single submitter ⚠
p.Met512Val Single submitter ⚠
p.Met714Thr Single submitter Inborn genetic diseases ⚠
p.Met748Val Single submitter ⚠
p.Met769Thr Single submitter
p.Met825Ile Single submitter ⚠
p.Phe392Leu Single submitter ⚠
p.Phe505Val Single submitter ⚠
p.Phe593Tyr Single submitter oculocutaneous albinism type 2 ⚠
p.Phe744Ile Single submitter
p.Phe809Leu Single submitter ⚠
p.Phe810fs Single submitter oculocutaneous albinism type 2
p.Pro118Thr Single submitter ⚠
p.Pro12Thr Single submitter ⚠