TYR — 819 ClinVar variants

All ClinVar germline TYR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 324 flagged for review →

107 Pathogenic · 88 Pathogenic/Likely pathogenic · 118 Likely pathogenic · 62 Conflicting · 10 Benign · 2 Benign/Likely benign · 195 Likely benign · 237 Uncertain significance

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

⚑ Evidence disagreements 324

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 28

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

TYR p.Arg217Gln Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Arg422Gln Pathogenic Multiple submitters
TYR-related disorder
TYR p.Arg422Trp Pathogenic/Likely pathogenic Multiple submitters
TYR-related disorder
TYR p.Asp42Asn Pathogenic Multiple submitters
oculocutaneous albinism
TYR p.Asp448Asn Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Gln273His Pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Gly379Val Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.His256Tyr Pathogenic/Likely pathogenic Multiple submitters
oculocutaneous albinism type 1A
TYR p.Ile198Thr Pathogenic/Likely pathogenic Multiple submitters
oculocutaneous albinism type 1A
TYR p.Pro301Leu Pathogenic/Likely pathogenic Multiple submitters
oculocutaneous albinism type 1A
TYR p.Pro45Thr Likely pathogenic Multiple submitters
oculocutaneous albinism type 1A
TYR p.Tyr149Cys Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Val275Phe Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Ala355Gly Likely pathogenic Single submitter
TYR p.Ala416Val Likely pathogenic Single submitter
TYR p.Arg217Gly Pathogenic Single submitter
TYR p.Arg239Gln Likely pathogenic Single submitter
TYR p.Arg278Leu Likely pathogenic Single submitter
TYR p.Arg87Gly Likely pathogenic Single submitter
oculocutaneous albinism type 1A
TYR p.Asp125Tyr Likely pathogenic Single submitter
oculocutaneous albinism type 1B
TYR p.Gly101Glu Likely pathogenic Single submitter
oculocutaneous albinism type 1B
TYR p.His304Arg Likely pathogenic Single submitter
oculocutaneous albinism type 1B
TYR p.Met332Val Likely pathogenic Single submitter
oculocutaneous albinism type 1A
TYR p.Pro406Ala Likely pathogenic Single submitter
TYR p.Thr373Ala Likely pathogenic Single submitter
oculocutaneous albinism type 1B
TYR p.Asp317Ala Likely pathogenic No assertion criteria
TYR-related disorder
TYR p.Leu9Arg Likely pathogenic No assertion criteria
oculocutaneous albinism type 1B
TYR p.Ser92Pro Likely pathogenic No assertion criteria
oculocutaneous albinism type 1A

Predictors agree, ClinVar conflicts 27

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

TYR p.Ala391Thr Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Arg217Trp Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Arg299Cys Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Arg405His Conflicting Single submitter
Inborn genetic diseases
TYR p.Asn342Lys Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Cys103Phe Conflicting Single submitter
oculocutaneous albinism
TYR p.Cys112Arg Conflicting Single submitter
TYR p.Cys55Ser Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Glu130Val Conflicting Single submitter
Inborn genetic diseases
TYR p.Glu328Lys Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Gly53Arg Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.His367Arg Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.His367Gln Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Ile222Thr Conflicting Single submitter
oculocutaneous albinism
TYR p.Leu175Pro Conflicting Single submitter
TYR p.Leu288Phe Conflicting Single submitter
TYR-related disorder
TYR p.Lys503Asn Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Met179Ile Conflicting Single submitter
Inborn genetic diseases
TYR p.Met252Arg Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Pro152Ser Conflicting Single submitter
oculocutaneous albinism
TYR p.Pro301Arg Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Pro412Ala Conflicting Single submitter
TYR-related disorder
TYR p.Ser192Tyr Conflicting Single submitter
Pigmentary skin disorders
TYR p.Ser349Thr Conflicting Single submitter
TYR-related disorder
TYR p.Trp80Arg Conflicting Single submitter
TYR-related disorder
TYR p.Val377Glu Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Val377Gly Conflicting Single submitter
oculocutaneous albinism type 1A

Predictors lean, ClinVar uncertain 133

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

TYR p.Ala23Thr Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Ala241Thr Uncertain significance Multiple submitters
TYR p.Arg116Gln Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Arg278Gln Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Arg298Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Arg298Trp Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Arg501Cys Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Asn29Lys Uncertain significance Multiple submitters
TYR p.Asp169Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Asp356Val Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Gln453Lys Uncertain significance Multiple submitters
TYR p.Glu509Lys Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Gly106Arg Uncertain significance Multiple submitters
TYR p.Leu140Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Leu322Pro Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Leu65Pro Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Pro165Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Pro384Ser Uncertain significance Multiple submitters
TYR p.Pro38Leu Uncertain significance Multiple submitters
TYR p.Pro431Thr Uncertain significance Multiple submitters
TYR p.Ser40Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Ser424Thr Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Thr139Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Thr292Met Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Thr343Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Trp236Cys Uncertain significance Multiple submitters
TYR p.Ala17Thr Uncertain significance Single submitter
oculocutaneous albinism type 1A
TYR p.Ala266Gly Uncertain significance Single submitter
TYR p.Ala316Asp Uncertain significance Single submitter
TYR p.Ala348Ser Uncertain significance Single submitter
TYR p.Ala355Ser Uncertain significance Single submitter
TYR p.Ala391Pro Uncertain significance Single submitter
TYR p.Ala471Val Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ala482Val Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ala4Val Uncertain significance Single submitter
TYR p.Ala63Val Uncertain significance Single submitter
TYR p.Arg115Thr Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Arg196Lys Uncertain significance Single submitter
TYR p.Arg311Ser Uncertain significance Single submitter
TYR p.Arg501His Uncertain significance Single submitter
TYR p.Arg77Leu Uncertain significance Single submitter
TYR p.Asn111His Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Asn111Lys Uncertain significance Single submitter
TYR p.Asn62Ser Uncertain significance Single submitter
TYR p.Asn86Lys Uncertain significance Single submitter
TYR p.Asp125Asn Uncertain significance Single submitter
TYR p.Asp174Ala Uncertain significance Single submitter
Albinism or congenital nystagmus
TYR p.Asp228Asn Uncertain significance Single submitter
TYR p.Asp305Asn Uncertain significance Single submitter
TYR p.Asp317Gly Uncertain significance Single submitter
TYR p.Cys244Gly Uncertain significance Single submitter
TYR p.Cys244Ser Uncertain significance Single submitter
TYR-related disorder
TYR p.Cys46Ser Uncertain significance Single submitter
TYR p.Cys8Tyr Uncertain significance Single submitter
TYR p.Gln220Arg Uncertain significance Single submitter
TYR p.Gln408Leu Uncertain significance Single submitter
TYR p.Glu193Ala Uncertain significance Single submitter
TYR p.Glu328Val Uncertain significance Single submitter
TYR p.Gly109Glu Uncertain significance Single submitter
TYR p.Gly154Glu Uncertain significance Single submitter
TYR p.Gly157Asp Uncertain significance Single submitter
TYR p.Gly162Glu Uncertain significance Single submitter
oculocutaneous albinism type 1A
TYR p.Gly254Ser Uncertain significance Single submitter
TYR p.Gly372Arg Uncertain significance Single submitter
TYR p.Gly372Glu Uncertain significance Single submitter
TYR p.Gly372Val Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Gly379Ala Uncertain significance Single submitter
TYR p.Gly436Ser Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Gly47Arg Uncertain significance Single submitter
TYR p.Gly53Ala Uncertain significance Single submitter
TYR p.Gly97Arg Uncertain significance Single submitter
TYR p.His180Asn Uncertain significance Single submitter
TYR p.His285Gln Uncertain significance Single submitter
TYR p.Ile145Val Uncertain significance Single submitter
TYR p.Ile151Met Uncertain significance Single submitter
TYR p.Ile194Val Uncertain significance Single submitter
TYR p.Ile274Thr Uncertain significance Single submitter
TYR p.Ile396Val Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ile58Met Uncertain significance Single submitter
TYR p.Leu188Val Uncertain significance Single submitter
TYR p.Leu215Phe Uncertain significance Single submitter
TYR p.Leu401Pro Uncertain significance Single submitter
oculocutaneous albinism type 1A
TYR p.Leu59Phe Uncertain significance Single submitter
TYR p.Leu6Met Uncertain significance Single submitter
oculocutaneous albinism type 1A
TYR p.Lys133Thr Uncertain significance Single submitter
TYR p.Lys243Thr Uncertain significance Single submitter
TYR p.Lys443Glu Uncertain significance Single submitter
TYR p.Lys465Glu Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Met166Val Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Met185Val Uncertain significance Single submitter
TYR p.Met252Leu Uncertain significance Single submitter
TYR p.Met483Thr Uncertain significance Single submitter
TYR p.Met96Thr Uncertain significance Single submitter
TYR p.Phe134Ser Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Phe207Cys Uncertain significance Single submitter
TYR p.Pro293Thr Uncertain significance Single submitter
TYR p.Pro313His Uncertain significance Single submitter
TYR p.Pro37Arg Uncertain significance Single submitter
TYR p.Pro38Ala Uncertain significance Single submitter
TYR p.Pro38Thr Uncertain significance Single submitter
TYR p.Pro428Leu Uncertain significance Single submitter
TYR p.Pro431Gln Uncertain significance Single submitter
TYR p.Pro45Ser Uncertain significance Single submitter
TYR p.Ser146Asn Uncertain significance Single submitter
TYR p.Ser323Arg Uncertain significance Single submitter
TYR p.Ser331Cys Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ser339Ile Uncertain significance Single submitter
TYR p.Ser361Asn Uncertain significance Single submitter
TYR p.Ser361Gly Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ser380Phe Uncertain significance Single submitter
TYR p.Ser442Pro Uncertain significance Single submitter
TYR p.Ser466Ala Uncertain significance Single submitter
oculocutaneous albinism
TYR p.Ser466Tyr Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ser79Trp Uncertain significance Single submitter
TYR p.Thr15Ile Uncertain significance Single submitter
TYR p.Thr309Asn Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Thr343Ile Uncertain significance Single submitter
TYR p.Trp236Ser Uncertain significance Single submitter
TYR p.Trp238Arg Uncertain significance Single submitter
TYR p.Trp400Ser Uncertain significance Single submitter
TYR p.Trp475Cys Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Trp80Ser Uncertain significance Single submitter
TYR p.Tyr447Cys Uncertain significance Single submitter
TYR p.Tyr85His Uncertain significance Single submitter
oculocutaneous albinism type 1B
TYR p.Val119Leu Uncertain significance Single submitter
TYR p.Val25Ala Uncertain significance Single submitter
TYR p.Val25Leu Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Val275Ile Uncertain significance Single submitter
TYR p.Val318Ala Uncertain significance Single submitter
TYR p.Val427Phe Uncertain significance Single submitter
oculocutaneous albinism type 1B
TYR p.Val83Ile Uncertain significance Single submitter
TYR p.Leu213Pro Uncertain significance No assertion criteria
TYR-related disorder
TYR p.Ser329Cys Uncertain significance No assertion criteria
oculocutaneous albinism type 1B

Predictors split 136

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

TYR p.Arg239Trp Pathogenic Multiple submitters
TYR-related disorder
TYR p.Arg405Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Asn230Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Asp437Asn Uncertain significance Multiple submitters
TYR p.Asp448Gly Uncertain significance Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Cys24Tyr Pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Glu281Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Glu281Lys Uncertain significance Multiple submitters
TYR p.Glu294Lys Pathogenic/Likely pathogenic Multiple submitters
TYR-related disorder
TYR p.Gly419Arg Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Gly436Ala Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Gly446Asp Likely pathogenic Multiple submitters
Albinism or congenital nystagmus
TYR p.Gly446Ser Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.His256Arg Uncertain significance Multiple submitters
TYR p.Leu216Met Uncertain significance Multiple submitters
oculocutaneous albinism type 1A
TYR p.Leu9Pro Uncertain significance Multiple submitters
TYR p.Met332Ile Pathogenic/Likely pathogenic Multiple submitters
Abnormality of the skin
TYR p.Met370Ile Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Met426Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Phe347Leu Likely pathogenic Multiple submitters
oculocutaneous albinism type 1A
TYR p.Pro152Arg Uncertain significance Multiple submitters
TYR p.Pro205Thr Pathogenic/Likely pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Pro21Ser Pathogenic Multiple submitters
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Pro296Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Ser44Arg Pathogenic Multiple submitters
oculocutaneous albinism type 1A
TYR p.Ser50Leu Uncertain significance Multiple submitters
TYR-related disorder
TYR p.Thr155Ile Uncertain significance Multiple submitters
oculocutaneous albinism
TYR p.Thr155Ser Uncertain significance Multiple submitters
TYR p.Trp475Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TYR p.Tyr149Ser Uncertain significance Multiple submitters
TYR p.Val177Ala Uncertain significance Multiple submitters
TYR p.Ala201Thr Likely pathogenic Single submitter
TYR p.Ala355Glu Uncertain significance Single submitter
TYR p.Ala355Pro Conflicting Single submitter
congenital nystagmus
TYR p.Ala355Val Conflicting Single submitter
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Ala381Thr Uncertain significance Single submitter
TYR p.Ala481Val Uncertain significance Single submitter
TYR p.Ala482Ser Conflicting Single submitter
TYR p.Arg22Thr Uncertain significance Single submitter
TYR p.Arg308Thr Uncertain significance Single submitter
TYR p.Arg403Ser Pathogenic Single submitter
TYR p.Arg52Thr Uncertain significance Single submitter
TYR p.Asn171Asp Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Asn371Asp Likely pathogenic Single submitter
TYR p.Asn421Lys Uncertain significance Single submitter
TYR p.Asn94Lys Uncertain significance Single submitter
TYR p.Asp148Ala Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Asp305Glu Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Asp317His Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Asp333Tyr Uncertain significance Single submitter
TYR p.Asp444Gly Uncertain significance Single submitter
TYR p.Asp448His Uncertain significance Single submitter
TYR p.Cys24Arg Pathogenic Single submitter
oculocutaneous albinism
TYR p.Cys276Tyr Conflicting Single submitter
oculocutaneous albinism
TYR p.Cys289Arg Conflicting Single submitter
oculocutaneous albinism
TYR p.Cys289Ser Likely pathogenic Single submitter
oculocutaneous albinism
TYR p.Gln376Arg Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Gln378Lys Uncertain significance Single submitter
oculocutaneous albinism type 1A
TYR p.Glu250Asp Uncertain significance Single submitter
TYR p.Glu294Asp Likely pathogenic Single submitter
TYR-related disorder
TYR p.Glu294Val Likely pathogenic Single submitter
TYR p.Glu34Ala Conflicting Single submitter
TYR-related disorder
TYR p.Gly227Glu Uncertain significance Single submitter
TYR p.Gly41Arg Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Gly436Cys Conflicting Single submitter
oculocutaneous albinism
TYR p.His256Pro Uncertain significance Single submitter
TYR p.Ile151Ser Likely pathogenic Single submitter
oculocutaneous albinism type 1A
TYR p.Ile198Asn Uncertain significance Single submitter
TYR p.Ile198Ser Likely pathogenic Single submitter
TYR p.Ile354Thr Uncertain significance Single submitter
TYR p.Ile440Thr Uncertain significance Single submitter
TYR p.Ile474Met Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Leu297Phe Uncertain significance Single submitter
TYR p.Leu388Phe Uncertain significance Single submitter
TYR p.Leu9Gln Uncertain significance Single submitter
TYR p.Lys33Glu Conflicting Single submitter
oculocutaneous albinism type 1B
TYR p.Lys33Thr Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Met159Ile Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Met252Val Uncertain significance Single submitter
TYR p.Met332Leu Uncertain significance Single submitter
TYR p.Met362Lys Uncertain significance Single submitter
TYR p.Met370Thr Uncertain significance Single submitter
TYR p.Met374Thr Uncertain significance Single submitter
TYR p.Met426Ile Uncertain significance Single submitter
TYR p.Met426Val Uncertain significance Single submitter
TYR p.Phe134Leu Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Phe20Cys Likely pathogenic Single submitter
TYR-related disorder
TYR p.Phe392Ser Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Phe460Ser Conflicting Single submitter
TYR p.Pro152His Pathogenic Single submitter
TYR p.Pro205Leu Likely pathogenic Single submitter
TYR p.Pro205Ser Uncertain significance Single submitter
TYR p.Pro21Arg Uncertain significance Single submitter
Albinism or congenital nystagmus
TYR p.Pro21Thr Uncertain significance Single submitter
TYR p.Pro260Leu Uncertain significance Single submitter
TYR p.Pro296Leu Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Pro350Leu Uncertain significance Single submitter
TYR p.Pro37Ser Uncertain significance Single submitter
TYR p.Pro37Thr Uncertain significance Single submitter
TYR p.Pro406Leu Conflicting Single submitter
Autosomal recessive TYR-related disorders
TYR p.Pro45Leu Conflicting Single submitter
TYR p.Pro64Leu Uncertain significance Single submitter
oculocutaneous albinism
TYR p.Ser146Ile Uncertain significance Single submitter
TYR p.Ser270Phe Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Ser277Arg Uncertain significance Single submitter
TYR p.Ser307Cys Uncertain significance Single submitter
TYR p.Ser375Phe Pathogenic Single submitter
TYR p.Ser395Asn Pathogenic Single submitter
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
TYR p.Ser395Thr Uncertain significance Single submitter
TYR p.Ser44Asn Likely pathogenic Single submitter
TYR p.Ser450Cys Uncertain significance Single submitter
TYR p.Ser459Cys Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Ser61Tyr Uncertain significance Single submitter
TYR p.Thr343Ser Uncertain significance Single submitter
TYR p.Thr88Ser Uncertain significance Single submitter
TYR p.Trp477Arg Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Tyr181Phe Uncertain significance Single submitter
TYR p.Tyr282Cys Uncertain significance Single submitter
TYR p.Tyr282His Uncertain significance Single submitter
TYR p.Tyr425Cys Uncertain significance Single submitter
TYR p.Tyr433Cys Uncertain significance Single submitter
TYR p.Tyr433His Uncertain significance Single submitter
TYR p.Tyr451Cys Conflicting Single submitter
oculocutaneous albinism type 1A
TYR p.Val177Ile Conflicting Single submitter
TYR-related disorder
TYR p.Val183Leu Likely pathogenic Single submitter
TYR-related disorder
TYR p.Val183Met Conflicting Single submitter
oculocutaneous albinism
TYR p.Val377Ala Conflicting Single submitter
TYR p.Val377Leu Uncertain significance Single submitter
TYR p.Val393Leu Uncertain significance Single submitter
TYR p.Val427Ile Uncertain significance Single submitter
Inborn genetic diseases
TYR p.Asp333Glu Likely pathogenic No assertion criteria
oculocutaneous albinism type 1A
TYR p.Asp75Tyr Likely pathogenic No assertion criteria
Nonsyndromic Oculocutaneous Albinism
TYR p.Gly436Asp Likely pathogenic No assertion criteria
oculocutaneous albinism type 1B
TYR p.Leu432Arg Likely pathogenic No assertion criteria
oculocutaneous albinism type 1B
TYR p.Phe347Ser Likely pathogenic No assertion criteria
oculocutaneous albinism type 1A
TYR p.Pro313Leu Likely pathogenic No assertion criteria
oculocutaneous albinism type 1A

All TYR variants

Pathogenic 107

c.1036+2T>G Multiple submitters oculocutaneous albinism type 1A
p.Arg115fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg217fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg239Trp Multiple submitters TYR-related disorder ⚠
p.Arg278Ter Multiple submitters oculocutaneous albinism type 1A
p.Arg299His Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg311fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg402Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg422Gln Multiple submitters TYR-related disorder ⚠
p.Arg77Gly Multiple submitters oculocutaneous albinism
p.Asn382Lys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Asp383Asn Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Asp42Asn Multiple submitters oculocutaneous albinism ⚠
p.Cys244_Asp245delinsTer Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Cys24Tyr Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Cys276Arg Multiple submitters oculocutaneous albinism
p.Cys55Tyr Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gln273His Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Gln326Ter Multiple submitters oculocutaneous albinism type 1A
p.Gln359Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gln453Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Glu130fs Multiple submitters oculocutaneous albinism type 1A
p.Glu219Lys Multiple submitters oculocutaneous albinism type 1A
p.Glu423fs Multiple submitters oculocutaneous albinism type 1A
p.Gly191fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly253Glu Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly346Val Multiple submitters TYR-related disorder
p.His389fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Leu9fs Multiple submitters oculocutaneous albinism type 1
p.Lys142Met Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Pro21Ser Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Pro81Leu Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Ser192fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Ser26fs Multiple submitters TYR-related disorder
p.Ser44Arg Multiple submitters oculocutaneous albinism type 1A ⚠
p.Thr373Lys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Trp178Ter Multiple submitters TYR-related disorder
p.Trp236Arg Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Trp80Ter Multiple submitters
p.Tyr251Ter Multiple submitters oculocutaneous albinism type 1A
p.Tyr85Ter Multiple submitters
c.1037-10_1041del Single submitter
c.(1184+1_1185-1 Single submitter oculocutaneous albinism type 1
c.1184+1G>C Single submitter
c.1366+1G>A Single submitter
c.819+1del Single submitter
c.819+1G>A Single submitter
c.820-1_820delinsTG Single submitter
p.Ala381fs Single submitter
p.Arg120Lys Single submitter
p.Arg217Gly Single submitter ⚠
p.Arg403Ser Single submitter ⚠
p.Asn261fs Single submitter
p.Asp249Gly Single submitter
p.Cys24Arg Single submitter oculocutaneous albinism ⚠
p.Cys24fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Cys24Ter Single submitter
p.Cys276fs Single submitter
p.Cys289Ter Single submitter oculocutaneous albinism type 1A
p.Cys321Ter Single submitter
p.Cys46fs Single submitter
p.Cys46Ter Single submitter
p.Cys89fs Single submitter oculocutaneous albinism type 1
p.Gln223Ter Single submitter
p.Gln399Ter Single submitter
p.Glu221Ter Single submitter
p.Glu242Ter Single submitter
p.Glu281fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Glu281Ter Single submitter
p.Glu32Ter Single submitter
p.Glu409Ter Single submitter
p.Glu78Ter Single submitter
p.Gly101fs Single submitter
p.Gly154fs Single submitter oculocutaneous albinism type 1A
p.Gly191Ter Single submitter
p.Gly353_Ile354insTer Single submitter oculocutaneous albinism type 1B
p.Gly53Asp Single submitter
p.Gly93fs Single submitter
p.His211Tyr Single submitter
p.His304fs Single submitter
p.Ile123Thr Single submitter
p.Ile194fs Single submitter oculocutaneous albinism type 1A
p.Leu263fs Single submitter
p.Phe135fs Single submitter
p.Phe13fs Single submitter oculocutaneous albinism type 1
p.Phe84_Tyr85insTer Single submitter oculocutaneous albinism type 1A
p.Pro152His Single submitter ⚠
p.Ser163Ter Single submitter
p.Ser184Ter Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Ser287fs Single submitter oculocutaneous albinism type 1A
p.Ser329fs Single submitter
p.Ser375Phe Single submitter ⚠
p.Ser395Asn Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Ser441fs Single submitter oculocutaneous albinism type 1A
p.Ser50fs Single submitter
p.Ser50Ter Single submitter oculocutaneous albinism type 1A
p.Trp195Ter Single submitter
p.Trp218Ter Single submitter
p.Trp238Ter Single submitter
p.Trp272Leu Single submitter
p.Trp39Arg Single submitter oculocutaneous albinism
p.Tyr137Ter Single submitter
p.Tyr149fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Tyr235His Single submitter
p.Tyr369fs Single submitter oculocutaneous albinism
p.Tyr451Ter Single submitter
c.1366+3123A>T No assertion criteria oculocutaneous albinism type 1A

Pathogenic/Likely pathogenic 88

c.1036+1G>A Multiple submitters oculocutaneous albinism type 1A
c.1037-1G>A Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
c.1037-2A>G Multiple submitters TYR-related disorder
c.1037-3C>G Multiple submitters oculocutaneous albinism type 1A
c.1037-7T>A Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
c.1185-2A>G Multiple submitters oculocutaneous albinism type 1A
c.1366+1G>T Multiple submitters TYR-related disorder
c.1366+3A>T Multiple submitters oculocutaneous albinism type 1
c.820-3C>G Multiple submitters oculocutaneous albinism type 1A
p.Ala206Thr Multiple submitters TYR-related disorder
p.Ala486fs Multiple submitters oculocutaneous albinism type 1A
p.Ala490fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg116Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg212Lys Multiple submitters TYR-related disorder
p.Arg217Gln Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Arg299Ser Multiple submitters oculocutaneous albinism type 1A
p.Arg422Trp Multiple submitters TYR-related disorder ⚠
p.Arg52Ile Multiple submitters oculocutaneous albinism
p.Arg77_Glu78insGly Multiple submitters oculocutaneous albinism type 1A
p.Arg77Gln Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg77Trp Multiple submitters oculocutaneous albinism type 1A
p.Asn371Thr Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Asn371Tyr Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Asp448Asn Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Cys103Arg Multiple submitters TYR-related disorder
p.Cys247Arg Multiple submitters oculocutaneous albinism type 1A
p.Cys36Tyr Multiple submitters oculocutaneous albinism type 1B
p.Cys89Arg Multiple submitters Fair hair
p.Cys91Ser Multiple submitters oculocutaneous albinism type 1
p.Cys91Tyr Multiple submitters Autosomal recessive TYR-related disorders
p.Gln220Ter Multiple submitters TYR-related disorder
p.Gln378Ter Multiple submitters TYR-related disorder
p.Glu203Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Glu221Lys Multiple submitters TYR-related disorder
p.Glu280Ter Multiple submitters oculocutaneous albinism type 1A
p.Glu294Lys Multiple submitters TYR-related disorder ⚠
p.Glu413fs Multiple submitters TYR-related disorder
p.Gly109Arg Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly253Arg Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly346Arg Multiple submitters Albinism or congenital nystagmus
p.Gly346Glu Multiple submitters TYR-related disorder
p.Gly346Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly419Arg Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Gly446Ser Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Gly47Asp Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly53Cys Multiple submitters oculocutaneous albinism type 1A
p.Gly97Val Multiple submitters TYR-related disorder
p.His202Gln Multiple submitters oculocutaneous albinism type 1A
p.His256Tyr Multiple submitters oculocutaneous albinism type 1A ⚠
p.His390Arg Multiple submitters oculocutaneous albinism type 1
p.His390Asp Multiple submitters oculocutaneous albinism
p.His420Arg Multiple submitters oculocutaneous albinism type 1B
p.Ile198Thr Multiple submitters oculocutaneous albinism type 1A ⚠
p.Ile233fs Multiple submitters oculocutaneous albinism type 1A
p.Leu288fs Multiple submitters oculocutaneous albinism type 1A
p.Leu288Ser Multiple submitters TYR-related disorder
p.Leu297fs Multiple submitters TYR-related disorder
p.Leu60fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Lys465Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Met1Thr Multiple submitters TYR-related disorder
p.Met1Val Multiple submitters Albinism or congenital nystagmus
p.Met332Ile Multiple submitters Abnormality of the skin ⚠
p.Met370Ile Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Met96fs Multiple submitters TYR-related disorder
p.Phe176fs Multiple submitters TYR-related disorder
p.Pro205Thr Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Pro209Leu Multiple submitters oculocutaneous albinism type 1A
p.Pro301Leu Multiple submitters oculocutaneous albinism type 1A ⚠
p.Pro81Ser Multiple submitters oculocutaneous albinism type 1A
p.Ser147Ter Multiple submitters oculocutaneous albinism type 1B
p.Ser314fs Multiple submitters oculocutaneous albinism type 1A
p.Ser349fs Multiple submitters oculocutaneous albinism type 1A
p.Ser441Ter Multiple submitters oculocutaneous albinism type 1A
p.Thr113fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Thr258fs Multiple submitters oculocutaneous albinism type 1B
p.Trp272Cys Multiple submitters TYR-related disorder
p.Trp39Ter Multiple submitters oculocutaneous albinism type 1
p.Trp400Cys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Trp400Leu Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Trp400Ter Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Tyr149Cys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Tyr327Cys Multiple submitters oculocutaneous albinism
p.Tyr369Cys Multiple submitters oculocutaneous albinism
p.Tyr449Cys Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Val177Asp Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Val275Phe Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Val393fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Val74fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN

Likely pathogenic 118

c.818_819+1delinsTTT Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
c.820-2A>G Multiple submitters oculocutaneous albinism type 1A
c.820-3del Multiple submitters oculocutaneous albinism type 1A
p.Ala490Asp Multiple submitters oculocutaneous albinism
p.Cys55Arg Multiple submitters TYR-related disorder
p.Glu398Gly Multiple submitters oculocutaneous albinism type 1A
p.Gly379Val Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Gly446Asp Multiple submitters Albinism or congenital nystagmus ⚠
p.His202Arg Multiple submitters TYR-related disorder
p.His202Tyr Multiple submitters oculocutaneous albinism type 1A
p.His367Tyr Multiple submitters oculocutaneous albinism type 1A
p.Lys131Glu Multiple submitters oculocutaneous albinism
p.Phe347Leu Multiple submitters oculocutaneous albinism type 1A ⚠
p.Pro45Thr Multiple submitters oculocutaneous albinism type 1A ⚠
p.Ser184fs Multiple submitters oculocutaneous albinism type 1A
p.Trp475fs Multiple submitters TYR-related disorder
p.Trp477fs Multiple submitters oculocutaneous albinism type 1A
c.1366+4629A>G Single submitter oculocutaneous albinism type 1
c.139G>A Single submitter
p.Ala141fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Ala201Thr Single submitter ⚠
p.Ala355Gly Single submitter ⚠
p.Ala416Val Single submitter ⚠
p.Ala481Glu Single submitter oculocutaneous albinism
p.Arg212Ile Single submitter
p.Arg212Thr Single submitter oculocutaneous albinism type 1A
p.Arg217Pro Single submitter oculocutaneous albinism type 1A
p.Arg239Gln Single submitter ⚠
p.Arg278Leu Single submitter ⚠
p.Arg405fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Arg501fs Single submitter oculocutaneous albinism type 1A
p.Arg87Gly Single submitter oculocutaneous albinism type 1A ⚠
p.Asn371Asp Single submitter ⚠
p.Asp125Tyr Single submitter oculocutaneous albinism type 1B ⚠
p.Asp174Tyr Single submitter oculocutaneous albinism type 1B
p.Asp249His Single submitter
p.Asp383Gly Single submitter TYR-related disorder
p.Asp383His Single submitter
p.Asp42Gly Single submitter oculocutaneous albinism type 1A
p.Cys100Trp Single submitter TYR-related disorder
p.Cys103Ser Single submitter
p.Cys103Ter Single submitter TYR-related disorder
p.Cys103Tyr Single submitter oculocutaneous albinism type 1B
p.Cys112fs Single submitter oculocutaneous albinism type 1B
p.Cys244Tyr Single submitter oculocutaneous albinism type 1A
p.Cys289Ser Single submitter oculocutaneous albinism ⚠
p.Cys36Arg Single submitter
p.Cys89Ter Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Cys89Tyr Single submitter
p.Cys91Arg Single submitter
p.Cys91Phe Single submitter TYR-related disorder
p.Glu219Ala Single submitter
p.Glu219Val Single submitter oculocutaneous albinism type 1B
p.Glu294Asp Single submitter TYR-related disorder ⚠
p.Glu294Val Single submitter ⚠
p.Glu345Lys Single submitter
p.Glu469Ter Single submitter oculocutaneous albinism type 1A
p.Gly101Glu Single submitter oculocutaneous albinism type 1B ⚠
p.Gly101Ter Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly295fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Gly485Arg Single submitter oculocutaneous albinism type 1
p.Gly51Cys Single submitter TYR-related disorder
p.Gly53Ser Single submitter oculocutaneous albinism type 1A
p.Gly53Val Single submitter
p.His202Asp Single submitter TYR-related disorder
p.His202Leu Single submitter oculocutaneous albinism type 1A
p.His202Pro Single submitter oculocutaneous albinism type 1B
p.His304Arg Single submitter oculocutaneous albinism type 1B ⚠
p.His363Arg Single submitter oculocutaneous albinism type 1B
p.Ile151Ser Single submitter oculocutaneous albinism type 1A ⚠
p.Ile198Ser Single submitter ⚠
p.Leu118Ter Single submitter oculocutaneous albinism type 1A
p.Leu498fs Single submitter oculocutaneous albinism type 1A
p.Met332Val Single submitter oculocutaneous albinism type 1A ⚠
p.Met370Lys Single submitter oculocutaneous albinism type 1A
p.Phe20Cys Single submitter TYR-related disorder ⚠
p.Phe214del Single submitter
p.Phe231fs Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
p.Pro129fs Single submitter TYR-related disorder
p.Pro165fs Single submitter TYR-related disorder
p.Pro205Leu Single submitter ⚠
p.Pro209Arg Single submitter oculocutaneous albinism
p.Pro406Ala Single submitter ⚠
p.Pro81Thr Single submitter TYR-related disorder
p.Ser339Arg Single submitter TYR-related disorder
p.Ser44Asn Single submitter ⚠
p.Ser455Ter Single submitter TYR-related disorder
p.Ser476Ter Single submitter TYR-related disorder
p.Thr373Ala Single submitter oculocutaneous albinism type 1B ⚠
p.Trp236Ter Single submitter oculocutaneous albinism type 1A
p.Trp80Cys Single submitter oculocutaneous albinism type 1A
p.Tyr235Cys Single submitter
p.Tyr425Ter Single submitter oculocutaneous albinism type 1A
p.Val183Leu Single submitter TYR-related disorder ⚠
c.1037-18T>G No assertion criteria Nonsyndromic Oculocutaneous Albinism
c.1184+2T>C No assertion criteria Nonsyndromic Oculocutaneous Albinism
p.Ala201Asp No assertion criteria oculocutaneous albinism type 1A
p.Ala482Glu No assertion criteria oculocutaneous albinism type 1A
p.Asp317Ala No assertion criteria TYR-related disorder ⚠
p.Asp333Glu No assertion criteria oculocutaneous albinism type 1A ⚠
p.Asp75Tyr No assertion criteria Nonsyndromic Oculocutaneous Albinism ⚠
p.Cys89Phe No assertion criteria oculocutaneous albinism type 1A
p.Gln512Ter No assertion criteria oculocutaneous albinism type 1A
p.Gly436Asp No assertion criteria oculocutaneous albinism type 1B ⚠
p.His363Gln No assertion criteria oculocutaneous albinism type 1A
p.Leu215Ser No assertion criteria oculocutaneous albinism type 1A
p.Leu215Trp No assertion criteria oculocutaneous albinism type 1A
p.Leu432Arg No assertion criteria oculocutaneous albinism type 1B ⚠
p.Leu9Arg No assertion criteria oculocutaneous albinism type 1B ⚠
p.Phe347Ser No assertion criteria oculocutaneous albinism type 1A ⚠
p.Pro313Leu No assertion criteria oculocutaneous albinism type 1A ⚠
p.Ser315_Ala316del No assertion criteria Nonsyndromic Oculocutaneous Albinism
p.Ser380Tyr No assertion criteria oculocutaneous albinism type 1A
p.Ser92Pro No assertion criteria oculocutaneous albinism type 1A ⚠
p.Trp400Arg No assertion criteria oculocutaneous albinism type 1A
p.Tyr173Cys No assertion criteria oculocutaneous albinism type 1A
p.Val177Leu No assertion criteria oculocutaneous albinism type 1A
p.Val318Gly No assertion criteria oculocutaneous albinism type 1A

Conflicting classifications of pathogenicity 62

c.1037-10dup Single submitter
c.1185-6208A>G Single submitter
c.1366+4A>G Single submitter oculocutaneous albinism
c.819+12_819+20del Single submitter
p.Ala348= Single submitter oculocutaneous albinism
p.Ala355= Single submitter oculocutaneous albinism
p.Ala355Pro Single submitter congenital nystagmus ⚠
p.Ala355Val Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Ala391Thr Single submitter oculocutaneous albinism type 1A ⚠
p.Ala482= Single submitter oculocutaneous albinism type 1A
p.Ala482Ser Single submitter ⚠
p.Arg217Trp Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Arg299Cys Single submitter oculocutaneous albinism type 1A ⚠
p.Arg405His Single submitter Inborn genetic diseases ⚠
p.Asn168= Single submitter oculocutaneous albinism
p.Asn342Lys Single submitter oculocutaneous albinism type 1A ⚠
p.Asp305Glu Single submitter oculocutaneous albinism type 1A ⚠
p.Cys103Phe Single submitter oculocutaneous albinism ⚠
p.Cys112Arg Single submitter ⚠
p.Cys276Tyr Single submitter oculocutaneous albinism ⚠
p.Cys289Arg Single submitter oculocutaneous albinism ⚠
p.Cys55Ser Single submitter oculocutaneous albinism type 1A ⚠
p.Gln326= Single submitter oculocutaneous albinism
p.Glu130Val Single submitter Inborn genetic diseases ⚠
p.Glu328Lys Single submitter oculocutaneous albinism type 1A ⚠
p.Glu34Ala Single submitter TYR-related disorder ⚠
p.Gly191= Single submitter oculocutaneous albinism
p.Gly227del Single submitter TYR-related disorder
p.Gly253= Single submitter
p.Gly41Arg Single submitter oculocutaneous albinism type 1A ⚠
p.Gly436Cys Single submitter oculocutaneous albinism ⚠
p.Gly53Arg Single submitter oculocutaneous albinism type 1A ⚠
p.His367Arg Single submitter oculocutaneous albinism type 1A ⚠
p.His367Gln Single submitter oculocutaneous albinism type 1A ⚠
p.Ile222Thr Single submitter oculocutaneous albinism ⚠
p.Leu175Pro Single submitter ⚠
p.Leu288Phe Single submitter TYR-related disorder ⚠
p.Leu387= Single submitter oculocutaneous albinism type 1A
p.Lys131del Single submitter oculocutaneous albinism type 1A
p.Lys33Glu Single submitter oculocutaneous albinism type 1B ⚠
p.Lys33Thr Single submitter oculocutaneous albinism type 1A ⚠
p.Lys503Asn Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Met179Ile Single submitter Inborn genetic diseases ⚠
p.Met252Arg Single submitter oculocutaneous albinism type 1A ⚠
p.Phe269del Single submitter
p.Phe460Ser Single submitter ⚠
p.Pro152Ser Single submitter oculocutaneous albinism ⚠
p.Pro301Arg Single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Pro406Leu Single submitter Autosomal recessive TYR-related disorders ⚠
p.Pro412Ala Single submitter TYR-related disorder ⚠
p.Pro45Leu Single submitter ⚠
p.Ser192Tyr Single submitter Pigmentary skin disorders ⚠
p.Ser270Phe Single submitter oculocutaneous albinism type 1A ⚠
p.Ser349Thr Single submitter TYR-related disorder ⚠
p.Ter530Lys Single submitter
p.Trp80Arg Single submitter TYR-related disorder ⚠
p.Tyr451Cys Single submitter oculocutaneous albinism type 1A ⚠
p.Val177Ile Single submitter TYR-related disorder ⚠
p.Val183Met Single submitter oculocutaneous albinism ⚠
p.Val377Ala Single submitter ⚠
p.Val377Glu Single submitter oculocutaneous albinism type 1A ⚠
p.Val377Gly Single submitter oculocutaneous albinism type 1A ⚠

Benign 10

c.1037-77T>C Multiple submitters
c.1184+50G>A Multiple submitters
c.-199C>A Multiple submitters oculocutaneous albinism type 1A
c.1037-10del Single submitter
c.1037-11_1037-10del Single submitter
c.1037-175T>C Single submitter
c.1037-201G>A Single submitter
c.1184+161T>G Single submitter
c.1367-268T>G Single submitter
c.1037-21dup No assertion criteria TYR-related disorder

Benign/Likely benign 2

p.Leu279= Multiple submitters oculocutaneous albinism
p.Pro38= Multiple submitters oculocutaneous albinism

Likely benign 195

c.1036+13T>A Multiple submitters oculocutaneous albinism type 1A
c.1037-19A>T Multiple submitters
c.1184+20T>C Multiple submitters
c.1185-19A>G Multiple submitters
c.1185-6C>T Multiple submitters
c.819+20C>T Multiple submitters
c.819+8A>G Multiple submitters
p.Ala17= Multiple submitters
p.Ala187= Multiple submitters
p.Arg43= Multiple submitters
p.Asn283= Multiple submitters
p.Asn382= Multiple submitters
p.Asp132= Multiple submitters
p.Asp174= Multiple submitters
p.Ile233= Multiple submitters
p.Leu216= Multiple submitters
p.Leu60= Multiple submitters
p.Phe340= Multiple submitters
p.Pro293= Multiple submitters
p.Ser16= Multiple submitters oculocutaneous albinism type 1A
c.1036+12C>A Single submitter
c.1036+13T>C Single submitter
c.1036+19_1036+24del Single submitter
c.1036+19C>T Single submitter
c.1036+9T>C Single submitter
c.1037-10T>A Single submitter
c.1037-14T>A Single submitter
c.1037-15T>A Single submitter
c.1037-17T>A Single submitter
c.1037-18T>C Single submitter
c.1037-7T>C Single submitter
c.1037-8dup Single submitter
c.1184+10T>C Single submitter
c.1184+14T>G Single submitter
c.1184+18T>G Single submitter
c.1184+19A>G Single submitter
c.1185-14C>A Single submitter
c.1185-14C>T Single submitter
c.1185-17A>G Single submitter
c.1185-20A>C Single submitter
c.1185-4G>C Single submitter
c.1185-5T>C Single submitter
c.1185-8C>T Single submitter
c.1366+10A>C Single submitter
c.1366+10A>G Single submitter
c.1366+11C>G Single submitter
c.1366+12T>C Single submitter
c.1366+15C>T Single submitter
c.1366+19del Single submitter
c.1366+20A>G Single submitter
c.1366+8T>C Single submitter
c.1367-14T>C Single submitter
c.1367-18G>A Single submitter
c.819+10G>T Single submitter
c.819+11C>T Single submitter
c.819+12T>C Single submitter
c.819+13A>G Single submitter
c.819+15A>C Single submitter
c.819+17A>G Single submitter
c.819+18T>C Single submitter
c.819+19A>G Single submitter
c.819+7T>G Single submitter
c.820-13G>T Single submitter
c.820-15G>T Single submitter
c.820-4A>C Single submitter
c.820-6G>A Single submitter
c.-10T>C Single submitter
c.*4G>C Single submitter
p.Ala128= Single submitter
p.Ala136= Single submitter
p.Ala241= Single submitter
p.Ala266= Single submitter
p.Ala481= Single submitter
p.Ala486= Single submitter
p.Ala63= Single submitter
p.Arg196= Single submitter
p.Arg217= Single submitter
p.Arg239= Single submitter
p.Arg278= Single submitter
p.Arg308= Single submitter
p.Arg403= Single submitter
p.Arg43Gly Single submitter Inborn genetic diseases
p.Asn161= Single submitter
p.Asn261= Single submitter
p.Asn371= Single submitter
p.Asn415= Single submitter
p.Asn86= Single submitter
p.Asp169= Single submitter
p.Asp186= Single submitter
p.Asp197= Single submitter
p.Asp199= Single submitter
p.Asp228= Single submitter
p.Asp245= Single submitter
p.Asp333= Single submitter
p.Asp356= Single submitter
p.Asp42= Single submitter
p.Asp444= Single submitter
p.Asp75= Single submitter
p.Cys24= Single submitter
p.Cys276= Single submitter
p.Cys289= Single submitter
p.Cys46= Single submitter
p.Cys91= Single submitter
p.Gln408= Single submitter
p.Gln453= Single submitter
p.Gln506= Single submitter
p.Glu114= Single submitter
p.Glu229= Single submitter
p.Glu242= Single submitter
p.Glu32= Single submitter
p.Glu423= Single submitter
p.Gly190= Single submitter
p.Gly227= Single submitter
p.Gly254= Single submitter
p.Gly353= Single submitter
p.Gly41= Single submitter
p.Gly446= Single submitter
p.Gly51= Single submitter
p.Gly66= Single submitter
p.His180= Single submitter
p.His19= Single submitter
p.His202= Single submitter
p.His211= Single submitter
p.His363= Single submitter
p.His389= Single submitter
p.His390= Single submitter
p.His420= Single submitter
p.Ile145= Single submitter
p.Ile274= Single submitter
p.Ile396= Single submitter
p.Ile440= Single submitter
p.Leu10= Single submitter
p.Leu117= Single submitter
p.Leu118= Single submitter
p.Leu126= Single submitter
p.Leu175= Single submitter
p.Leu188= Single submitter
p.Leu208= Single submitter
p.Leu215= Single submitter
p.Leu225= Single submitter
p.Leu3= Single submitter
p.Leu30= Single submitter
p.Leu324= Single submitter
p.Leu344= Single submitter
p.Leu452= Single submitter
p.Leu499= Single submitter
p.Leu9= Single submitter
p.Lys33= Single submitter
p.Lys334= Single submitter
p.Phe124= Single submitter
p.Phe176= Single submitter
p.Phe397= Single submitter
p.Phe439= Single submitter
p.Phe95= Single submitter
p.Pro209= Single submitter
p.Pro265= Single submitter
p.Pro296= Single submitter
p.Pro301= Single submitter
p.Pro310= Single submitter
p.Pro313= Single submitter
p.Pro350= Single submitter
p.Pro417= Single submitter
p.Pro431= Single submitter
p.Pro64= Single submitter
p.Ser163= Single submitter
p.Ser192= Single submitter
p.Ser267= Single submitter
p.Ser270= Single submitter
p.Ser277= Single submitter
p.Ser323= Single submitter
p.Ser375= Single submitter
p.Ser40= Single submitter
p.Ser441= Single submitter
p.Ser450= Single submitter
p.Ser61= Single submitter
p.Ser79= Single submitter
p.Ser82= Single submitter
p.Thr155= Single submitter
p.Thr164= Single submitter
p.Thr226= Single submitter
p.Thr232= Single submitter
p.Thr292= Single submitter
p.Thr352= Single submitter
p.Thr373= Single submitter
p.Tyr181= Single submitter
p.Tyr235= Single submitter
p.Tyr251= Single submitter
p.Tyr327= Single submitter
p.Tyr425= Single submitter
p.Tyr7= Single submitter
p.Tyr85= Single submitter
p.Val183= Single submitter
p.Val25= Single submitter
p.Val275= Single submitter
p.Val377= Single submitter

Uncertain significance 237

c.1037-3C>T Multiple submitters
c.1184+4G>A Multiple submitters
p.Ala23Thr Multiple submitters oculocutaneous albinism ⚠
p.Ala241Thr Multiple submitters ⚠
p.Arg116Gln Multiple submitters oculocutaneous albinism type 1A ⚠
p.Arg278Gln Multiple submitters oculocutaneous albinism ⚠
p.Arg298Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg298Trp Multiple submitters oculocutaneous albinism type 1A ⚠
p.Arg405Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg501Cys Multiple submitters oculocutaneous albinism type 1A ⚠
p.Asn230Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn29Lys Multiple submitters ⚠
p.Asp169Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp356Val Multiple submitters oculocutaneous albinism type 1A ⚠
p.Asp437Asn Multiple submitters ⚠
p.Asp448_Tyr451del Multiple submitters oculocutaneous albinism type 1B
p.Asp448Gly Multiple submitters SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ⚠
p.Gln453Lys Multiple submitters ⚠
p.Glu281Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu281Lys Multiple submitters ⚠
p.Glu509Lys Multiple submitters oculocutaneous albinism ⚠
p.Glu519fs Multiple submitters oculocutaneous albinism type 1A
p.Gly106Arg Multiple submitters ⚠
p.Gly436Ala Multiple submitters oculocutaneous albinism ⚠
p.His256Arg Multiple submitters ⚠
p.Leu140Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu216Met Multiple submitters oculocutaneous albinism type 1A ⚠
p.Leu322Pro Multiple submitters oculocutaneous albinism type 1A ⚠
p.Leu65Pro Multiple submitters oculocutaneous albinism ⚠
p.Leu9Pro Multiple submitters ⚠
p.Met426Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro152Arg Multiple submitters ⚠
p.Pro165Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro296Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro384Ser Multiple submitters ⚠
p.Pro38Leu Multiple submitters ⚠
p.Pro431Thr Multiple submitters ⚠
p.Ser40Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser424Thr Multiple submitters oculocutaneous albinism ⚠
p.Ser50Leu Multiple submitters TYR-related disorder ⚠
p.Thr139Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr155Ile Multiple submitters oculocutaneous albinism ⚠
p.Thr155Ser Multiple submitters ⚠
p.Thr292Met Multiple submitters oculocutaneous albinism type 1A ⚠
p.Thr343Ala Multiple submitters Inborn genetic diseases ⚠
p.Trp236Cys Multiple submitters ⚠
p.Trp475Leu Multiple submitters Inborn genetic diseases ⚠
p.Tyr149Ser Multiple submitters ⚠
p.Val177Ala Multiple submitters ⚠
c.1184+16395G>T Single submitter
c.820-21A>G Single submitter
c.-37G>A Single submitter oculocutaneous albinism
c.-41A>G Single submitter oculocutaneous albinism
c.-9_-7delinsGG Single submitter
c.*230G>A Single submitter oculocutaneous albinism
p.Ala17Thr Single submitter oculocutaneous albinism type 1A ⚠
p.Ala266Gly Single submitter ⚠
p.Ala266Pro Single submitter
p.Ala316Asp Single submitter ⚠
p.Ala348Ser Single submitter ⚠
p.Ala355Glu Single submitter ⚠
p.Ala355Ser Single submitter ⚠
p.Ala381Thr Single submitter ⚠
p.Ala391Pro Single submitter ⚠
p.Ala471= Single submitter
p.Ala471Val Single submitter Inborn genetic diseases ⚠
p.Ala481Val Single submitter ⚠
p.Ala482Val Single submitter Inborn genetic diseases ⚠
p.Ala4Val Single submitter ⚠
p.Ala63Val Single submitter ⚠
p.Arg115Thr Single submitter Inborn genetic diseases ⚠
p.Arg196Lys Single submitter ⚠
p.Arg22Thr Single submitter ⚠
p.Arg308Thr Single submitter ⚠
p.Arg311Ser Single submitter ⚠
p.Arg501His Single submitter ⚠
p.Arg52Thr Single submitter ⚠
p.Arg77Leu Single submitter ⚠
p.Arg87_Thr88delinsSer Single submitter
p.Asn111His Single submitter Inborn genetic diseases ⚠
p.Asn111Lys Single submitter ⚠
p.Asn171Asp Single submitter Inborn genetic diseases ⚠
p.Asn421Lys Single submitter ⚠
p.Asn62Ser Single submitter ⚠
p.Asn86Lys Single submitter ⚠
p.Asn94Lys Single submitter ⚠
p.Asp125Asn Single submitter ⚠
p.Asp148Ala Single submitter Inborn genetic diseases ⚠
p.Asp169del Single submitter
p.Asp174Ala Single submitter Albinism or congenital nystagmus ⚠
p.Asp228Asn Single submitter ⚠
p.Asp305Asn Single submitter ⚠
p.Asp317Gly Single submitter ⚠
p.Asp317His Single submitter Inborn genetic diseases ⚠
p.Asp333Tyr Single submitter ⚠
p.Asp444Gly Single submitter ⚠
p.Asp448His Single submitter ⚠
p.Cys244Gly Single submitter ⚠
p.Cys244Ser Single submitter TYR-related disorder ⚠
p.Cys46Ser Single submitter ⚠
p.Cys8Tyr Single submitter ⚠
p.Gln220Arg Single submitter ⚠
p.Gln273= Single submitter oculocutaneous albinism type 1A
p.Gln376Arg Single submitter Inborn genetic diseases ⚠
p.Gln378Lys Single submitter oculocutaneous albinism type 1A ⚠
p.Gln408Leu Single submitter ⚠
p.Glu193Ala Single submitter ⚠
p.Glu250Asp Single submitter ⚠
p.Glu328Val Single submitter ⚠
p.Gly109Glu Single submitter ⚠
p.Gly154Glu Single submitter ⚠
p.Gly157Asp Single submitter ⚠
p.Gly162Glu Single submitter oculocutaneous albinism type 1A ⚠
p.Gly227Glu Single submitter ⚠
p.Gly254Ser Single submitter ⚠
p.Gly372Arg Single submitter ⚠
p.Gly372Glu Single submitter ⚠
p.Gly372Val Single submitter Inborn genetic diseases ⚠
p.Gly379Ala Single submitter ⚠
p.Gly436Ser Single submitter Inborn genetic diseases ⚠
p.Gly47Arg Single submitter ⚠
p.Gly53Ala Single submitter ⚠
p.Gly97Arg Single submitter ⚠
p.His180Asn Single submitter ⚠
p.His256Pro Single submitter ⚠
p.His285Gln Single submitter ⚠
p.Ile145Val Single submitter ⚠
p.Ile151Met Single submitter ⚠
p.Ile194Val Single submitter ⚠
p.Ile198Asn Single submitter ⚠
p.Ile246Phe Single submitter
p.Ile274Thr Single submitter ⚠
p.Ile354Thr Single submitter ⚠
p.Ile396Val Single submitter Inborn genetic diseases ⚠
p.Ile440Thr Single submitter ⚠
p.Ile474Met Single submitter Inborn genetic diseases ⚠
p.Ile58Met Single submitter ⚠
p.Leu188Val Single submitter ⚠
p.Leu215Phe Single submitter ⚠
p.Leu297Phe Single submitter ⚠
p.Leu388Phe Single submitter ⚠
p.Leu401Pro Single submitter oculocutaneous albinism type 1A ⚠
p.Leu59Phe Single submitter ⚠
p.Leu6Met Single submitter oculocutaneous albinism type 1A ⚠
p.Leu9Gln Single submitter ⚠
p.Lys133Thr Single submitter ⚠
p.Lys243Thr Single submitter ⚠
p.Lys443Glu Single submitter ⚠
p.Lys465Glu Single submitter Inborn genetic diseases ⚠
p.Met159Ile Single submitter Inborn genetic diseases ⚠
p.Met166Val Single submitter Inborn genetic diseases ⚠
p.Met185Val Single submitter ⚠
p.Met252Leu Single submitter ⚠
p.Met252Val Single submitter ⚠
p.Met332Leu Single submitter ⚠
p.Met362Lys Single submitter ⚠
p.Met370Thr Single submitter ⚠
p.Met374Thr Single submitter ⚠
p.Met426Ile Single submitter ⚠
p.Met426Val Single submitter ⚠
p.Met483Thr Single submitter ⚠
p.Met96Thr Single submitter ⚠
p.Phe124Leu Single submitter
p.Phe134Leu Single submitter Inborn genetic diseases ⚠
p.Phe134Ser Single submitter Inborn genetic diseases ⚠
p.Phe207Cys Single submitter ⚠
p.Phe392Ser Single submitter Inborn genetic diseases ⚠
p.Pro205Ser Single submitter ⚠
p.Pro21Arg Single submitter Albinism or congenital nystagmus ⚠
p.Pro21Thr Single submitter ⚠
p.Pro260Leu Single submitter ⚠
p.Pro293Thr Single submitter ⚠
p.Pro296Leu Single submitter Inborn genetic diseases ⚠
p.Pro313His Single submitter ⚠
p.Pro350Leu Single submitter ⚠
p.Pro37Arg Single submitter ⚠
p.Pro37Ser Single submitter ⚠
p.Pro37Thr Single submitter ⚠
p.Pro38Ala Single submitter ⚠
p.Pro38Thr Single submitter ⚠
p.Pro428Leu Single submitter ⚠
p.Pro431Gln Single submitter ⚠
p.Pro45Ser Single submitter ⚠
p.Pro64Leu Single submitter oculocutaneous albinism ⚠
p.Ser146Asn Single submitter ⚠
p.Ser146Ile Single submitter ⚠
p.Ser267del Single submitter
p.Ser277Arg Single submitter ⚠
p.Ser307Cys Single submitter ⚠
p.Ser323Arg Single submitter ⚠
p.Ser331Cys Single submitter Inborn genetic diseases ⚠
p.Ser339Ile Single submitter ⚠
p.Ser361Asn Single submitter ⚠
p.Ser361Gly Single submitter Inborn genetic diseases ⚠
p.Ser380Phe Single submitter ⚠
p.Ser395= Single submitter
p.Ser395Thr Single submitter ⚠
p.Ser442Pro Single submitter ⚠
p.Ser450Cys Single submitter ⚠
p.Ser459Cys Single submitter Inborn genetic diseases ⚠
p.Ser466Ala Single submitter oculocutaneous albinism ⚠
p.Ser466Tyr Single submitter Inborn genetic diseases ⚠
p.Ser61Tyr Single submitter ⚠
p.Ser79Pro Single submitter
p.Ser79Trp Single submitter ⚠
p.Thr15Ile Single submitter ⚠
p.Thr309Asn Single submitter Inborn genetic diseases ⚠
p.Thr343Ile Single submitter ⚠
p.Thr343Ser Single submitter ⚠
p.Thr88Asn Single submitter
p.Thr88Ser Single submitter ⚠
p.Trp236Ser Single submitter ⚠
p.Trp238Arg Single submitter ⚠
p.Trp400Ser Single submitter ⚠
p.Trp475Cys Single submitter Inborn genetic diseases ⚠
p.Trp477Arg Single submitter Inborn genetic diseases ⚠
p.Trp80Ser Single submitter ⚠
p.Tyr181Phe Single submitter ⚠
p.Tyr282Cys Single submitter ⚠
p.Tyr282His Single submitter ⚠
p.Tyr425Cys Single submitter ⚠
p.Tyr433Cys Single submitter ⚠
p.Tyr433His Single submitter ⚠
p.Tyr447Cys Single submitter ⚠
p.Tyr85His Single submitter oculocutaneous albinism type 1B ⚠
p.Val119Leu Single submitter ⚠
p.Val25Ala Single submitter ⚠
p.Val25Leu Single submitter Inborn genetic diseases ⚠
p.Val275Ile Single submitter ⚠
p.Val318Ala Single submitter ⚠
p.Val377Leu Single submitter ⚠
p.Val393Leu Single submitter ⚠
p.Val427Ile Single submitter Inborn genetic diseases ⚠
p.Val427Phe Single submitter oculocutaneous albinism type 1B ⚠
p.Val83Ile Single submitter ⚠
p.Leu213Pro No assertion criteria TYR-related disorder ⚠
p.Ser329Cys No assertion criteria oculocutaneous albinism type 1B ⚠