PAX6 — 917 ClinVar variants

All ClinVar germline PAX6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

272 Pathogenic · 22 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 49 Conflicting · 46 Benign · 16 Benign/Likely benign · 160 Likely benign · 255 Uncertain significance

Full PAX6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 166

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 1

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

PAX6 p.Thr405Ala Pathogenic No assertion criteria
Optic nerve aplasia, bilateral

Predictors agree, ClinVar conflicts 15

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

PAX6 p.Arg254Gln Conflicting Single submitter
aniridia 1
PAX6 p.Asn64Lys Conflicting Single submitter
Anophthalmia-microphthalmia syndrome
PAX6 p.Gln47His Conflicting Single submitter
Peters anomaly
PAX6 p.Gly208Arg Conflicting Single submitter
Peters anomaly
PAX6 p.Gly86Arg Conflicting Single submitter
foveal hypoplasia 1
PAX6 p.Gly87Asp Conflicting Single submitter
Peters anomaly
PAX6 p.Ile101Thr Conflicting Single submitter
Inborn genetic diseases
PAX6 p.Ile29Thr Conflicting Single submitter
aniridia 1
PAX6 p.Pro389Gln Conflicting Single submitter
aniridia 1
PAX6 p.Pro90Gln Conflicting Single submitter
aniridia 1
PAX6 p.Ser63Tyr Conflicting Single submitter
Peters anomaly
PAX6 p.Tyr104Cys Conflicting Single submitter
aniridia 1
PAX6 p.Val134Met Conflicting Single submitter
isolated optic nerve hypoplasia
PAX6 p.Val62Leu Conflicting Single submitter
PAX6 p.Val92Ala Conflicting Single submitter
PAX6-related disorder

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

PAX6 p.His390fs Conflicting Single submitter
Peters anomaly

Predictors lean, ClinVar uncertain 124

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

PAX6 p.Arg139Thr Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Arg19Leu Uncertain significance Multiple submitters
Peters anomaly
PAX6 p.Arg19Trp Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Gln103Pro Uncertain significance Multiple submitters
WAGR syndrome
PAX6 p.Glu195Asp Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Gly13Asp Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Gly197Ala Uncertain significance Multiple submitters
Peters anomaly
PAX6 p.Met400Val Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Met428Val Uncertain significance Multiple submitters
Peters anomaly
PAX6 p.Pro22Leu Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Pro344Leu Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Ser348Thr Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Thr201Ser Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Thr387Ala Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Trp271Ser Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Ala153Val Uncertain significance Single submitter
PAX6-related disorder
PAX6 p.Ala335Gly Uncertain significance Single submitter
aniridia 1
PAX6 p.Ala33Pro Uncertain significance Single submitter
PAX6 p.Ala342Ser Uncertain significance Single submitter
PAX6 p.Arg117Pro Uncertain significance Single submitter
aniridia 1
PAX6 p.Arg139Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Arg142Ser Uncertain significance Single submitter
PAX6 p.Arg173His Uncertain significance Single submitter
Peters anomaly
PAX6 p.Arg19Gln Uncertain significance Single submitter
aniridia 1
PAX6 p.Arg222Gln Uncertain significance Single submitter
PAX6 p.Arg226Ser Uncertain significance Single submitter
PAX6-related disorder
PAX6 p.Arg331Gln Uncertain significance Single submitter
foveal hypoplasia 1
PAX6 p.Arg381Gln Uncertain significance Single submitter
aniridia 1
PAX6 p.Arg38Leu Uncertain significance Single submitter
aniridia 1
PAX6 p.Arg44Gly Uncertain significance Single submitter
aniridia 1
PAX6 p.Arg83Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Asn207Asp Uncertain significance Single submitter
PAX6 p.Asp212His Uncertain significance Single submitter
aniridia 1
PAX6 p.Asp212Tyr Uncertain significance Single submitter
PAX6 p.Asp333Asn Uncertain significance Single submitter
PAX6 p.Asp333Glu Uncertain significance Single submitter
PAX6 p.Asp41His Uncertain significance Single submitter
PAX6 p.Cys126Tyr Uncertain significance Single submitter
aniridia 1
PAX6 p.Gln185Lys Uncertain significance Single submitter
aniridia 1
PAX6 p.Gln192Lys Uncertain significance Single submitter
aniridia 1
PAX6 p.Gln194His Uncertain significance Single submitter
PAX6 p.Gln215Lys Uncertain significance Single submitter
aniridia 1
PAX6 p.Gln219Pro Uncertain significance Single submitter
PAX6 p.Glu123Lys Uncertain significance Single submitter
aniridia 1
PAX6 p.Glu76Gln Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Glu96Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Gly124Arg Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly165Glu Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Gly165Trp Uncertain significance Single submitter
Peters anomaly
PAX6 p.Gly168Ala Uncertain significance Single submitter
PAX6 p.Gly168Arg Uncertain significance Single submitter
PAX6 p.Gly171Ser Uncertain significance Single submitter
foveal hypoplasia 1
PAX6 p.Gly184Ala Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly18Glu Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly197Arg Uncertain significance Single submitter
carboxymethyl-dextran-A2-gadolinium-DOTA
PAX6 p.Gly65Glu Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly7Arg Uncertain significance Single submitter
PAX6 p.Gly7Val Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly86Ala Uncertain significance Single submitter
aniridia 1
PAX6 p.His390Asn Uncertain significance Single submitter
aniridia 1
PAX6 p.His394Gln Uncertain significance Single submitter
aniridia 1
PAX6 p.His5Tyr Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Ile268Arg Uncertain significance Single submitter
aniridia 1
PAX6 p.Ile42Leu Uncertain significance Single submitter
aniridia 1
PAX6 p.Leu141Pro Uncertain significance Single submitter
PAX6 p.Leu163Phe Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Leu32Arg Uncertain significance Single submitter
aniridia 1
PAX6 p.Lys69Asn Uncertain significance Single submitter
PAX6 p.Met151Ile Uncertain significance Single submitter
Anophthalmia-microphthalmia syndrome
PAX6 p.Met156Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Met391Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Met391Leu Uncertain significance Single submitter
aniridia 1
PAX6 p.Met391Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Met395Ile Uncertain significance Single submitter
aniridia 1
PAX6 p.Met395Val Uncertain significance Single submitter
aniridia 1
PAX6 p.Met400Thr Uncertain significance Single submitter
PAX6 p.Phe112Leu Uncertain significance Single submitter
Peters anomaly
PAX6 p.Pro178Leu Uncertain significance Single submitter
Peters anomaly
PAX6 p.Pro186Thr Uncertain significance Single submitter
Peters anomaly
PAX6 p.Pro20Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Pro22Arg Uncertain significance Single submitter
aniridia 1
PAX6 p.Pro312Ala Uncertain significance Single submitter
aniridia 1
PAX6 p.Pro319Leu Uncertain significance Single submitter
Peters anomaly
PAX6 p.Pro359Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Pro360Ala Uncertain significance Single submitter
PAX6 p.Pro399Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Pro39Ala Uncertain significance Single submitter
aniridia 1
PAX6 p.Pro82Leu Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser133Ile Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser181Leu Uncertain significance Single submitter
PAX6 p.Ser181Thr Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser273Pro Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser293Asn Uncertain significance Single submitter
Peters anomaly
PAX6 p.Ser322Pro Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser341Gly Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser377Leu Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser397Gly Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser4Thr Uncertain significance Single submitter
PAX6 p.Ser6Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Ser88Cys Uncertain significance Single submitter
aniridia 1
PAX6 p.Ser99Gly Uncertain significance Single submitter
PAX6 p.Thr167Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Thr180Ser Uncertain significance Single submitter
Peters anomaly
PAX6 p.Thr187Met Uncertain significance Single submitter
foveal hypoplasia 1
PAX6 p.Thr307Pro Uncertain significance Single submitter
aniridia 1
PAX6 p.Thr307Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Thr317Ala Uncertain significance Single submitter
Peters anomaly
PAX6 p.Thr324Ser Uncertain significance Single submitter
aniridia 1
PAX6 p.Thr365Asn Uncertain significance Single submitter
PAX6 p.Thr374Ile Uncertain significance Single submitter
Peters anomaly
PAX6 p.Thr385Ile Uncertain significance Single submitter
aniridia 1
PAX6 p.Thr77Asn Uncertain significance Single submitter
aniridia 1
PAX6 p.Thr94Ala Uncertain significance Single submitter
aniridia 1
PAX6 p.Val134Leu Uncertain significance Single submitter
PAX6 p.Val16Asp Uncertain significance Single submitter
PAX6 p.Val270Leu Uncertain significance Single submitter
PAX6 p.Val30Ile Uncertain significance Single submitter
aniridia 1
PAX6 p.Val361Ile Uncertain significance Single submitter
aniridia 1
PAX6 p.Val62Gly Uncertain significance Single submitter
aniridia 1
PAX6 p.Val67Met Uncertain significance Single submitter
PAX6-related disorder
PAX6 p.Val8Ala Uncertain significance Single submitter
PAX6 p.Val92Leu Uncertain significance Single submitter
aniridia 1
PAX6 p.Val97Ala Uncertain significance Single submitter
Peters anomaly
PAX6 p.Glu213Asp Uncertain significance No assertion criteria
PAX6-related disorder

Predictors split 25

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

PAX6 p.Asp210Glu Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Tyr157Cys Uncertain significance Multiple submitters
aniridia 1
PAX6 p.Arg106Gln Conflicting Single submitter
Anophthalmia-microphthalmia syndrome
PAX6 p.Arg119Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Gln166His Uncertain significance Single submitter
aniridia 1
PAX6 p.Gln27His Uncertain significance Single submitter
aniridia 1
PAX6 p.Gln291His Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Glu96Ala Uncertain significance Single submitter
PAX6 p.Gly155Asp Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly171Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Gly171Val Uncertain significance Single submitter
aniridia 1
PAX6 p.Gly175Asp Uncertain significance Single submitter
Peters anomaly
PAX6 p.Gly179Trp Uncertain significance Single submitter
foveal hypoplasia 1
PAX6 p.Gly409Arg Pathogenic Single submitter
aniridia 1
PAX6 p.Ile101Val Uncertain significance Single submitter
Peters anomaly
PAX6 p.Ile137Val Uncertain significance Single submitter
PAX6 p.Ile411Phe Uncertain significance Single submitter
aniridia 1
PAX6 p.Leu160Val Uncertain significance Single submitter
aniridia 1
PAX6 p.Met216Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Pro174Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX6 p.Pro95Ser Uncertain significance Single submitter
PAX6 p.Thr127Ala Uncertain significance Single submitter
aniridia 1
PAX6 p.Tyr340Cys Uncertain significance Single submitter
aniridia 1
PAX6 p.Val125Phe Likely benign Single submitter
aniridia 1
PAX6 p.Gln47Arg Pathogenic No assertion criteria
aniridia 1

All PAX6 variants

Pathogenic 272

c.10+1G>C Multiple submitters PAX6-related disorder
c.1074+1G>C Multiple submitters aniridia 1
c.1075-2A>G Multiple submitters Peters anomaly
c.1225+1G>T Multiple submitters Inborn genetic diseases
c.141+1G>A Multiple submitters aniridia 1
c.399+1G>A Multiple submitters PAX6-related disorder
c.399+1G>C Multiple submitters Peters anomaly
c.958+1G>A Multiple submitters aniridia 1
c.959-1G>A Multiple submitters aniridia 1
c.-128-2del Multiple submitters PAX6 Aniridia Syndrome
c.-129+1G>A Multiple submitters PAX6-related disorder
p.Ala37fs Multiple submitters PAX6-related disorder
p.Arg117Ter Multiple submitters Peters anomaly
p.Arg119Ter Multiple submitters aniridia 1
p.Arg217Ter Multiple submitters PAX6-related disorder
p.Arg254Ter Multiple submitters Peters anomaly
p.Arg26Trp Multiple submitters Peters anomaly
p.Arg275Ter Multiple submitters PAX6-related disorder
p.Arg331Ter Multiple submitters PAX6-related disorder
p.Arg44Ter Multiple submitters Peters anomaly
p.Arg81Ter Multiple submitters aniridia 1
p.Cys40Ter Multiple submitters Inborn genetic diseases
p.Gln149Ter Multiple submitters PAX6-related disorder
p.Gln188Ter Multiple submitters PAX6-related disorder
p.Gln194Ter Multiple submitters aniridia 1
p.Gln215Ter Multiple submitters PAX6-related disorder
p.Gln219Ter Multiple submitters Peters anomaly
p.Gln269His Multiple submitters aniridia 1
p.Gln288Ter Multiple submitters aniridia 1
p.Gln2Ter Multiple submitters aniridia 1
p.Gln364Ter Multiple submitters aniridia 1
p.Glu107Ter Multiple submitters aniridia 1
p.Glu123Ter Multiple submitters aniridia 1
p.Gly12Arg Multiple submitters Peters anomaly
p.Gly171fs Multiple submitters aniridia 1
p.Gly404fs Multiple submitters PAX6-related disorder
p.Gly86Ser Multiple submitters PAX6-related disorder
p.Lys69Ter Multiple submitters aniridia 1
p.Phe15fs Multiple submitters PAX6-related disorder
p.Pro360fs Multiple submitters PAX6-related disorder
p.Ser273fs Multiple submitters Sporadic aniridia
p.Thr180fs Multiple submitters aniridia 1
p.Trp279Ter Multiple submitters aniridia 1
p.Val92Glu Multiple submitters aniridia 1
c.10+1G>A Single submitter aniridia 1
c.1074+1G>A Single submitter
c.1074+2T>C Single submitter aniridia 1
c.1075-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 18B
c.11-218_565+80del Single submitter aniridia 1
c.11-2A>G Single submitter PAX6-related disorder
c.1225+1_1225+8delinsC Single submitter
c.1225+1G>A Single submitter aniridia 1
c.1226-1G>T Single submitter aniridia 1
c.1226-2A>G Single submitter
c.141+1G>C Single submitter aniridia 1
c.141+1G>T Single submitter PAX6-related disorder
c.141+2T>A Single submitter
c.141+2T>G Single submitter
c.184-2A>G Single submitter PAX6-related disorder
c.184-5T>G Single submitter aniridia 1
c.399+2dup Single submitter
c.399+2T>C Single submitter Peters anomaly
c.399+4A>T Single submitter aniridia 1
c.400-2A>T Single submitter aniridia 1
c.439_565+443del Single submitter aniridia 1
c.566-1G>C Single submitter aniridia 1
c.566-1G>T Single submitter aniridia 1
c.566-2A>G Single submitter aniridia 1
c.724+2T>C Single submitter aniridia 1
c.725-1G>A Single submitter aniridia 1
c.725-2A>C Single submitter PAX6-related disorder
c.787_807+102del Single submitter Peters anomaly
c.802_807+9del Single submitter aniridia 1
c.808-1G>C Single submitter aniridia 1
c.808-1G>T Single submitter
c.808-2A>C Single submitter
c.958+1G>C Single submitter aniridia 1
c.958+2T>C Single submitter
c.959-1_961dup Single submitter PAX6-related disorder
c.959-2A>T Single submitter PAX6-related disorder
c.-129+2T>A Single submitter Peters anomaly
c.-52+1G>A Single submitter aniridia 1
c.-52+3_-52+4del Single submitter aniridia 1
c.-52+3_-52+6delinsTG Single submitter aniridia 1
c.-52+5del Single submitter aniridia 1
p.Ala277fs Single submitter aniridia 1
p.Ala342fs Single submitter Peters anomaly
p.Arg106fs Single submitter Inborn genetic diseases
p.Arg139fs Single submitter aniridia 1
p.Arg139Gly Single submitter aniridia 1
p.Arg142Pro Single submitter aniridia 1
p.Arg19fs Single submitter
p.Arg217fs Single submitter aniridia 1
p.Arg228Ser Single submitter aniridia 1
p.Arg245fs Single submitter
p.Arg26fs Single submitter aniridia 1
p.Arg276Ser Single submitter Peters anomaly
p.Arg289fs Single submitter
p.Arg38fs Single submitter aniridia 1
p.Arg38Pro Single submitter aniridia 1
p.Asn138fs Single submitter aniridia 1
p.Asn17_Gly18del Single submitter aniridia 1
p.Asn200fs Single submitter aniridia 1
p.Asn354fs Single submitter aniridia 1
p.Asp129fs Single submitter Peters anomaly
p.Asp41fs Single submitter aniridia 1
p.Cys370fs Single submitter aniridia 1
p.Cys40fs Single submitter aniridia 1
p.Cys66Ter Single submitter aniridia 1
p.Gln103fs Single submitter aniridia 1
p.Gln103Ter Single submitter aniridia 1
p.Gln10fs Single submitter Peters anomaly
p.Gln10Ter Single submitter aniridia 1
p.Gln166Ter Single submitter aniridia 1
p.Gln185Ter Single submitter aniridia 1
p.Gln193fs Single submitter aniridia 1
p.Gln225Ter Single submitter PAX6-related disorder
p.Gln235Ter Single submitter aniridia 1
p.Gln269fs Single submitter aniridia 1
p.Gln269Ter Single submitter
p.Gln27fs Single submitter aniridia 1
p.Gln358Ter Single submitter aniridia 1
p.Gln420fs Single submitter aniridia 1
p.Gln47Ter Single submitter aniridia 1
p.Glu107fs Single submitter
p.Glu115fs Single submitter aniridia 1
p.Glu237Ter Single submitter Peters anomaly
p.Glu242fs Single submitter aniridia 1
p.Glu282fs Single submitter
p.Glu282Ter Single submitter
p.Glu283fs Single submitter
p.Gly12fs Single submitter aniridia 1
p.Gly13_Val14delinsGluSerAla Single submitter aniridia
p.Gly13Ala Single submitter Peters anomaly
p.Gly168fs Single submitter PAX6-related disorder
p.Gly175fs Single submitter
p.Gly18Arg Single submitter aniridia 1
p.Gly198fs Single submitter
p.Gly208Ter Single submitter aniridia 1
p.Gly409Arg Single submitter aniridia 1 ⚠
p.Gly72= Single submitter aniridia 1
p.Gly78fs Single submitter Peters anomaly
p.His298fs Single submitter aniridia 1
p.Ile111fs Single submitter
p.Ile137Lys Single submitter aniridia
p.Ile313fs Single submitter
p.Leu120fs Single submitter
p.Leu120Ser Single submitter aniridia 1
p.Lys100_Ile101insTer Single submitter aniridia 1
p.Lys260_Ile261insTer Single submitter Autosomal dominant PAX6-related disorders
p.Met156fs Single submitter
p.Met162fs Single submitter aniridia 1
p.Met1Arg Single submitter aniridia 1
p.Met1Ile Single submitter aniridia 1
p.Met1Leu Single submitter aniridia 1
p.Met1Val Single submitter Peters anomaly
p.Phe231fs Single submitter aniridia 1
p.Phe252fs Single submitter aniridia 1
p.Pro178fs Single submitter Peters anomaly
p.Pro183fs Single submitter aniridia 1
p.Pro22fs Single submitter
p.Pro264fs Single submitter aniridia 1
p.Pro314fs Single submitter aniridia 1
p.Pro319fs Single submitter aniridia 1
p.Pro347fs Single submitter aniridia 1
p.Pro362fs Single submitter
p.Pro373fs Single submitter Albinism or congenital nystagmus
p.Pro39fs Single submitter aniridia 1
p.Pro95fs Single submitter aniridia 1
p.Ser135Leu Single submitter aniridia 1
p.Ser181Ter Single submitter
p.Ser35fs Single submitter aniridia 1
p.Ser363fs Single submitter aniridia 1
p.Ser429fs Single submitter
p.Ser4delinsTyrTer Single submitter aniridia 1
p.Ser68fs Single submitter
p.Ter437LeuextTer? Single submitter aniridia 1
p.Thr187fs Single submitter aniridia 1
p.Thr25fs Single submitter aniridia 1
p.Thr332fs Single submitter aniridia 1
p.Thr334fs Single submitter aniridia 1
p.Thr337fs Single submitter aniridia 1
p.Thr374fs Single submitter aniridia 1
p.Trp114Ter Single submitter aniridia 1
p.Trp170Ter Single submitter aniridia 1
p.Tyr157fs Single submitter aniridia 1
p.Tyr177fs Single submitter aniridia 1
p.Tyr177Ter Single submitter aniridia 1
p.Tyr310fs Single submitter aniridia 1
p.Tyr340fs Single submitter aniridia
p.Tyr368Ter Single submitter aniridia 1
p.Tyr74_Tyr75insTer Single submitter
p.Tyr75Ter Single submitter aniridia 1
p.Val140fs Single submitter aniridia 1
p.Val16fs Single submitter aniridia 1
p.Val361fs Single submitter
p.Val48Ala Single submitter
c.(10+1_11-1 No assertion criteria aniridia
c.1226-1G>C No assertion criteria aniridia 1
c.133_141+4del No assertion criteria aniridia 1
c.184-1_195dup No assertion criteria aniridia 1
c.184-1G>A No assertion criteria aniridia 1
c.399_399+5del No assertion criteria aniridia 1
c.400-1G>A No assertion criteria aniridia 1
c.400-2A>G No assertion criteria aniridia 1
c.566-14_567del No assertion criteria aniridia 1
c.566-1G>A No assertion criteria aniridia 1
c.725-1G>C No assertion criteria aniridia 1
c.725-6T>A No assertion criteria aniridia 1
c.808-1G>A No assertion criteria aniridia 1
c.958+1G>T No assertion criteria aniridia 1
c.959-1G>C No assertion criteria aniridia 1
c.-138_-129+3del No assertion criteria aniridia 1
p.Ala113fs No assertion criteria aniridia 1
p.Arg173fs No assertion criteria aniridia 1
p.Arg226fs No assertion criteria aniridia 1
p.Arg228Gly No assertion criteria aniridia 1
p.Arg256fs No assertion criteria PAX6-related disorder
p.Arg256Thr No assertion criteria aniridia 1
p.Arg44Pro No assertion criteria microphthalmia
p.Arg83fs No assertion criteria aniridia 1
p.Asn138Lys No assertion criteria coloboma, ocular, autosomal dominant
p.Asn164fs No assertion criteria aniridia 1
p.Asn353fs No assertion criteria aniridia 1
p.Asp210_Ser211insTer No assertion criteria aniridia 1
p.Asp23fs No assertion criteria aniridia 1
p.Cys108fs No assertion criteria aniridia 1
p.Gln150Ter No assertion criteria aniridia 1
p.Gln291Ter No assertion criteria aniridia 1
p.Gln2fs No assertion criteria aniridia 1
p.Gln47Arg No assertion criteria aniridia 1 ⚠
p.Glu123fs No assertion criteria aniridia 1
p.Glu76Ter No assertion criteria aniridia 1
p.Glu96Ter No assertion criteria aniridia 1
p.Gly190fs No assertion criteria aniridia 1
p.Gly401fs No assertion criteria aniridia 1
p.Gly409Ter No assertion criteria aniridia 1
p.Gly78Val No assertion criteria Foveal hypoplasia 1 with cataract
p.Gly7Ter No assertion criteria aniridia 1
p.Ile137fs No assertion criteria aniridia 1
p.Ile204fs No assertion criteria PAX6-related disorder
p.Ile268fs No assertion criteria aniridia 1
p.Ile42fs No assertion criteria aniridia 1
p.Ile70fs No assertion criteria aniridia 1
p.Leu355_Pro356insGlyLysTer No assertion criteria aniridia 1
p.Lys148fs No assertion criteria aniridia 1
p.Lys278fs No assertion criteria aniridia 1
p.Met428fs No assertion criteria aniridia 1
p.Phe112fs No assertion criteria aniridia 1
p.Phe272Ser No assertion criteria coloboma, ocular, autosomal dominant
p.Phe323fs No assertion criteria aniridia 1
p.Pro132fs No assertion criteria aniridia 1
p.Pro132Ter No assertion criteria aniridia 1
p.Pro82Ser No assertion criteria coloboma of optic nerve
p.Ser110fs No assertion criteria aniridia 1
p.Ser297fs No assertion criteria aniridia 1
p.Ser308fs No assertion criteria aniridia 1
p.Ser367Ter No assertion criteria aniridia 1
p.Ser68Arg No assertion criteria coloboma, ocular, autosomal dominant
p.Thr172fs No assertion criteria aniridia 1
p.Thr318fs No assertion criteria aniridia 1
p.Thr405Ala No assertion criteria Optic nerve aplasia, bilateral ⚠
p.Trp271Ter No assertion criteria aniridia 1
p.Trp279fs No assertion criteria aniridia 1
p.Tyr340_Ser341delinsTer No assertion criteria aniridia 1
p.Tyr368fs No assertion criteria aniridia 1
p.Val125fs No assertion criteria aniridia 1
p.Val270Ala No assertion criteria coloboma, ocular, autosomal dominant
p.Val54Asp No assertion criteria ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
p.Val67fs No assertion criteria aniridia 1
p.Val67Gly No assertion criteria aniridia 1
p.Val97fs No assertion criteria aniridia 1

Pathogenic/Likely pathogenic 22

c.1225+5G>A Multiple submitters Inborn genetic diseases
c.959-3C>G Multiple submitters aniridia 1
c.-118_-117del Multiple submitters aniridia 1
p.Arg142Cys Multiple submitters Peters anomaly
p.Arg222Trp Multiple submitters Autosomal dominant PAX6-related disorders
p.Arg38Gln Multiple submitters PAX6-related disorder
p.Arg38Gly Multiple submitters aniridia 1
p.Arg38Trp Multiple submitters aniridia 1
p.Cys191Ter Multiple submitters aniridia 1
p.Gly36Glu Multiple submitters PAX6-related disorder
p.Gly86Cys Multiple submitters aniridia 1
p.Ser133Arg Multiple submitters aniridia 1
p.Ser136Ter Multiple submitters aniridia 1
p.Ser321fs Multiple submitters PAX6-related disorder
p.Ser377Ter Multiple submitters aniridia 1
p.Ser43Phe Multiple submitters aniridia 1
p.Ter437Gln Multiple submitters aniridia 1
p.Ter437Leu Multiple submitters Sporadic aniridia
p.Trp176Ter Multiple submitters aniridia 1
p.Val140Asp Multiple submitters PAX6-related ocular dysgenesis
p.Arg26Gly No assertion criteria coloboma, ocular, autosomal dominant
p.Gly65Val No assertion criteria Peters anomaly

Likely pathogenic 97

p.Arg142Leu Multiple submitters PAX6-related disorder
p.Glu242Lys Multiple submitters Inborn genetic diseases
c.10+5G>A Single submitter PAX6-related disorder
c.10+5G>C Single submitter foveal hypoplasia 1
c.1225+2T>C Single submitter PAX6-related disorder
c.1225+5G>T Single submitter aniridia 1
c.1267A>T Single submitter isolated optic nerve hypoplasia
c.141+35_141+36insT Single submitter aniridia 1
c.141+4A>T Single submitter PAX6-related disorder
c.399+1_399+2insATAACA Single submitter aniridia 1
c.399+2T>G Single submitter aniridia 1
c.399+5G>A Single submitter aniridia 1
c.724+1G>A Single submitter aniridia 1
c.725-2A>G Single submitter aniridia 1
c.725-5T>A Single submitter PAX6-related disorder
c.808-2A>G Single submitter PAX6-related disorder
c.959-26_976del Single submitter PAX6-related disorder
c.959-3_959-2del Single submitter aniridia 1
c.959-9T>A Single submitter
c.-128-2A>G Single submitter
c.-52+1del Single submitter aniridia 1
p.Ala113Thr Single submitter aniridia 1
p.Ala145fs Single submitter PAX6-related disorder
p.Ala335fs Single submitter PAX6-related disorder
p.Ala37Pro Single submitter aniridia 1
p.Arg139Lys Single submitter Inborn genetic diseases
p.Arg142His Single submitter PAX6-related disorder
p.Arg228Thr Single submitter
p.Arg26Gln Single submitter aniridia 1
p.Arg26Leu Single submitter PAX6-related disorder
p.Arg275fs Single submitter aniridia 1
p.Arg275Gln Single submitter aniridia 1
p.Arg73Ser Single submitter
p.Asn17fs Single submitter aniridia 1
p.Asn396fs Single submitter PAX6-related disorder
p.Cys370Ter Single submitter aniridia 1
p.Cys66Trp Single submitter aniridia 1
p.Gln225Arg Single submitter aniridia 1
p.Gln233fs Single submitter PAX6-related disorder
p.Gln269= Single submitter aniridia 1
p.Gln269Arg Single submitter aniridia 1
p.Gln291delinsAsnTer Single submitter PAX6-related disorder
p.Gln436fs Single submitter aniridia 1
p.Gln47= Single submitter
p.Gln47Leu Single submitter aniridia 1
p.Gln47Pro Single submitter PAX6-related disorder
p.Gly18Trp Single submitter aniridia 1
p.Gly36Ala Single submitter
p.Gly72fs Single submitter PAX6-related disorder
p.Gly78Ser Single submitter
p.His34fs Single submitter aniridia 1
p.Ile101Arg Single submitter
p.Ile116Asn Single submitter PAX6-related disorder
p.Ile29fs Single submitter PAX6-related disorder
p.Ile42Asn Single submitter aniridia 1
p.Leu21fs Single submitter aniridia 1
p.Leu285fs Single submitter aniridia 1
p.Leu372fs Single submitter PAX6-related disorder
p.Lys159Ter Single submitter
p.Lys241Asn Single submitter
p.Lys284Ter Single submitter aniridia 1
p.Lys28del Single submitter PAX6-related disorder
p.Lys69Arg Single submitter
p.Phe231Leu Single submitter Inborn genetic diseases
p.Pro249Thr Single submitter Peters anomaly
p.Pro399fs Single submitter aniridia 1
p.Pro413fs Single submitter aniridia 1
p.Pro90Leu Single submitter aniridia 1
p.Ser133fs Single submitter aniridia 1
p.Ser63Phe Single submitter
p.Ser88Gly Single submitter aniridia 1
p.Trp432fs Single submitter PAX6-related disorder
p.Tyr340Ter Single submitter
p.Tyr74Asn Single submitter
p.Val415fs Single submitter
p.Val62Met Single submitter aniridia 1
p.Val67Leu Single submitter aniridia 1
c.1074+6T>G No assertion criteria aniridia 1
c.141+4A>G No assertion criteria aniridia 1
c.184-14C>G No assertion criteria aniridia 1
c.725-5T>C No assertion criteria aniridia 1
c.725-9C>G No assertion criteria aniridia 1
c.-122dup No assertion criteria aniridia 1
p.Arg106Pro No assertion criteria aniridia 1
p.Asn17Lys No assertion criteria aniridia 1
p.Gly18Ala No assertion criteria aniridia 1
p.Gly36Val No assertion criteria aniridia 1
p.Gly65Arg No assertion criteria PAX6-related disorder
p.Ile131_Ser133del No assertion criteria aniridia 1
p.Ile42Ser No assertion criteria aniridia 1
p.Ile80Asn No assertion criteria Developmental cataract
p.Leu32Val No assertion criteria aniridia 1
p.Leu71Pro No assertion criteria aniridia 1
p.Lys241= No assertion criteria aniridia 1
p.Lys69Thr No assertion criteria aniridia 1
p.Pro39_Arg44del No assertion criteria aniridia 1
p.Val125= No assertion criteria aniridia 1

Conflicting classifications of pathogenicity 49

c.1074+167G>A Single submitter
c.1074+3_1074+6del Single submitter aniridia 1
c.1075-3C>G Single submitter aniridia 1
c.142-3T>C Single submitter PAX6-related ocular dysgenesis
c.807+5C>T Single submitter Peters anomaly
c.807+6G>A Single submitter aniridia 1
c.808-12C>T Single submitter WAGR syndrome
c.958+4A>T Single submitter aniridia 1
c.-107C>T Single submitter Anophthalmia-microphthalmia syndrome
c.*2506C>T Single submitter WAGR syndrome
c.*2882T>C Single submitter WAGR syndrome
c.*3168C>T Single submitter WAGR syndrome
c.*3318A>G Single submitter WAGR syndrome
c.*3428C>T Single submitter Anophthalmia-microphthalmia syndrome
c.*356T>A Single submitter autosomal dominant keratitis
c.*3670C>T Single submitter autosomal dominant keratitis
c.*3746C>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*4627A>C Single submitter WAGR syndrome
c.*4696G>C Single submitter WAGR syndrome
c.*841C>T Single submitter Anophthalmia-microphthalmia syndrome
c.*891G>A Single submitter Anophthalmia-microphthalmia syndrome
p.Arg106Gln Single submitter Anophthalmia-microphthalmia syndrome ⚠
p.Arg254Gln Single submitter aniridia 1 ⚠
p.Asn64Lys Single submitter Anophthalmia-microphthalmia syndrome ⚠
p.Asp154= Single submitter aniridia 1
p.Gln291= Single submitter Peters anomaly
p.Gln47His Single submitter Peters anomaly ⚠
p.Gly208Arg Single submitter Peters anomaly ⚠
p.Gly86Arg Single submitter foveal hypoplasia 1 ⚠
p.Gly87Asp Single submitter Peters anomaly ⚠
p.His390fs Single submitter Peters anomaly ⚠
p.Ile101Thr Single submitter Inborn genetic diseases ⚠
p.Ile29Thr Single submitter aniridia 1 ⚠
p.Leu329= Single submitter Peters anomaly
p.Leu435fs Single submitter coloboma of optic nerve
p.Pro344= Single submitter Peters anomaly
p.Pro389Gln Single submitter aniridia 1 ⚠
p.Pro39= Single submitter aniridia 1
p.Pro90Gln Single submitter aniridia 1 ⚠
p.Ser303= Single submitter autosomal dominant keratitis
p.Ser63Tyr Single submitter Peters anomaly ⚠
p.Ser99= Single submitter aniridia 1
p.Thr324= Single submitter autosomal dominant keratitis
p.Thr393= Single submitter aniridia 1
p.Tyr104Cys Single submitter aniridia 1 ⚠
p.Val134Met Single submitter isolated optic nerve hypoplasia ⚠
p.Val251= Single submitter Peters anomaly
p.Val62Leu Single submitter ⚠
p.Val92Ala Single submitter PAX6-related disorder ⚠

Benign 46

c.10+275C>G Multiple submitters
c.10+300T>C Multiple submitters
c.10+305C>T Multiple submitters
c.1074+107C>T Multiple submitters
c.1075-174G>A Multiple submitters
c.11-195G>A Multiple submitters
c.11-41T>C Multiple submitters
c.1225+43T>G Multiple submitters
c.141+231C>T Multiple submitters
c.141+318C>T Multiple submitters
c.142-148A>T Multiple submitters
c.725-234A>T Multiple submitters
c.-52+123T>C Multiple submitters
c.*1184A>T Multiple submitters WAGR syndrome
c.*2160G>A Multiple submitters foveal hypoplasia 1
c.*2305G>A Multiple submitters WAGR syndrome
c.*2707C>T Multiple submitters WAGR syndrome
c.*3202G>A Multiple submitters autosomal dominant keratitis
c.*3958G>A Multiple submitters foveal hypoplasia 1
c.1075-275A>C Single submitter aniridia 1
c.11-275dup Single submitter
c.11-753G>A Single submitter
c.1226-242del Single submitter
c.141+55G>A Single submitter
c.142-52del Single submitter
c.399+38G>A Single submitter
c.724+14del Single submitter aniridia 1
c.724+152TG[17] Single submitter
c.724+152TG[18] Single submitter
c.724+152TG[19] Single submitter
c.724+152TG[20] Single submitter
c.724+152TG[21] Single submitter
c.958+33T>A Single submitter
c.959-7C>T Single submitter aniridia 1
c.-128-204G>A Single submitter
c.*1063A>G Single submitter autosomal dominant keratitis
c.*2238T>G Single submitter WAGR syndrome
c.*2559G>A Single submitter Anophthalmia-microphthalmia syndrome
c.*417C>T Single submitter WAGR syndrome
c.*4296G>C Single submitter WAGR syndrome
p.Arg81= Single submitter aniridia 1
p.Gly198Val Single submitter aniridia 1
p.Gly326= Single submitter aniridia 1
p.Pro312Gln Single submitter aniridia 1
p.Pro319= Single submitter aniridia 1
p.Ser412= Single submitter Peters anomaly

Benign/Likely benign 16

c.-129+9G>A Multiple submitters autosomal dominant keratitis
c.*2416G>T Multiple submitters foveal hypoplasia 1
c.*2901T>C Multiple submitters carboxymethyl-dextran-A2-gadolinium-DOTA
c.*2985G>A Multiple submitters WAGR syndrome
c.*3885G>T Multiple submitters WAGR syndrome
c.*5108A>G Multiple submitters WAGR syndrome
c.*842G>A Multiple submitters foveal hypoplasia 1
p.Arg44= Multiple submitters aniridia 1
p.Glu123= Multiple submitters Anophthalmia-microphthalmia syndrome
p.Ter437= Multiple submitters PAX6-related ocular dysgenesis
c.*1436G>A Single submitter Anophthalmia-microphthalmia syndrome
c.*1478C>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*2697T>A Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*4370C>G Single submitter WAGR syndrome
c.*4599T>G Single submitter WAGR syndrome
p.Gln436Lys No assertion criteria

Likely benign 160

c.11-12C>G Multiple submitters aniridia 1
c.142-149T>A Multiple submitters
c.399+18A>G Multiple submitters aniridia 1
c.399+255A>G Multiple submitters
c.400-15_400-5del Multiple submitters Peters anomaly
c.-118T>C Multiple submitters aniridia 1
c.-129+229G>C Multiple submitters
p.Asn207= Multiple submitters aniridia 1
p.Gln233= Multiple submitters Peters anomaly
p.Gly155= Multiple submitters aniridia 1
p.Gly179= Multiple submitters Peters anomaly
p.Ser24= Multiple submitters aniridia 1
p.Ser407= Multiple submitters Peters anomaly
p.Thr167= Multiple submitters Peters anomaly
c.10+11C>A Single submitter aniridia 1
c.10+13G>A Single submitter aniridia 1
c.10+17T>C Single submitter aniridia 1
c.10+20C>T Single submitter aniridia 1
c.10+7G>A Single submitter aniridia 1
c.10+7G>T Single submitter aniridia 1
c.1074+16G>A Single submitter aniridia 1
c.1074+27T>C Single submitter
c.1074+42A>G Single submitter
c.1074+8C>T Single submitter aniridia 1
c.1074+9G>A Single submitter aniridia 1
c.1075-3C>A Single submitter aniridia 1
c.1075-8C>T Single submitter aniridia 1
c.11-10C>G Single submitter aniridia 1
c.11-19C>T Single submitter aniridia 1
c.11-20T>C Single submitter aniridia 1
c.11-24_11-20dup Single submitter Peters anomaly
c.11-4T>A Single submitter aniridia 1
c.11-813G>A Single submitter aniridia 1
c.1225+11G>A Single submitter aniridia 1
c.1226-13C>T Single submitter aniridia 1
c.1226-242dup Single submitter
c.1226-4C>G Single submitter aniridia 1
c.1226-7C>T Single submitter aniridia 1
c.141+11C>G Single submitter aniridia 1
c.141+18G>A Single submitter aniridia 1
c.141+19C>T Single submitter aniridia 1
c.141+9C>G Single submitter aniridia 1
c.142-142dup Single submitter
c.184-4G>T Single submitter Peters anomaly
c.184-5T>C Single submitter aniridia 1
c.184-9C>G Single submitter aniridia 1
c.399+10_399+11del Single submitter Peters anomaly
c.399+13A>G Single submitter aniridia 1
c.399+9A>G Single submitter aniridia 1
c.400-12T>C Single submitter
c.400-13G>T Single submitter
c.400-17T>C Single submitter
c.400-18T>G Single submitter aniridia 1
c.565+13C>T Single submitter
c.565+17C>T Single submitter aniridia 1
c.566-22C>T Single submitter
c.566-41T>G Single submitter aniridia 1
c.724+14T>A Single submitter
c.724+152TG[27] Single submitter
c.724+16A>G Single submitter aniridia 1
c.724+7G>C Single submitter aniridia 1
c.725-18A>G Single submitter Peters anomaly
c.725-19A>C Single submitter aniridia 1
c.807+14G>A Single submitter Peters anomaly
c.807+17C>T Single submitter aniridia 1
c.808-13A>G Single submitter aniridia 1
c.808-15C>T Single submitter aniridia 1
c.808-18G>A Single submitter aniridia 1
c.808-19del Single submitter aniridia 1
c.808-19T>C Single submitter aniridia 1
c.958+18T>C Single submitter aniridia 1
c.958+18T>G Single submitter aniridia 1
c.959-20G>A Single submitter aniridia 1
c.-117dup Single submitter
c.-125dup Single submitter aniridia 1
c.-129+22C>T Single submitter
c.-180A>G Single submitter WAGR syndrome
c.*2977C>A Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
p.Ala102= Single submitter aniridia 1
p.Ala113= Single submitter aniridia 1
p.Ala145= Single submitter Peters anomaly
p.Ala238= Single submitter aniridia 1
p.Ala259= Single submitter aniridia 1
p.Ala266= Single submitter aniridia 1
p.Ala277= Single submitter aniridia 1
p.Ala335Thr Single submitter aniridia 1
p.Ala93= Single submitter aniridia 1
p.Arg106= Single submitter aniridia 1
p.Arg117= Single submitter Peters anomaly
p.Arg119= Single submitter aniridia 1
p.Arg217= Single submitter aniridia 1
p.Arg245= Single submitter aniridia 1
p.Arg254= Single submitter aniridia 1
p.Arg256= Single submitter Peters anomaly
p.Arg26= Single submitter
p.Arg331= Single submitter aniridia 1
p.Asn164= Single submitter aniridia 1
p.Asn294= Single submitter aniridia 1
p.Gln185= Single submitter aniridia 1
p.Gln225= Single submitter aniridia 1
p.Gln398= Single submitter aniridia 1
p.Gln436= Single submitter
p.Glu234= Single submitter aniridia 1
p.Gly12= Single submitter aniridia 1
p.Gly152= Single submitter aniridia 1
p.Gly155Ser Single submitter aniridia 1
p.Gly165= Single submitter aniridia 1
p.Gly175= Single submitter Peters anomaly
p.Gly197= Single submitter Peters anomaly
p.Gly330= Single submitter aniridia 1
p.Gly414= Single submitter aniridia 1
p.Gly78= Single submitter
p.His247= Single submitter aniridia 1
p.Ile137= Single submitter aniridia 1
p.Ile301= Single submitter aniridia 1
p.Ile85= Single submitter aniridia 1
p.Leu11= Single submitter aniridia 1
p.Leu220= Single submitter aniridia 1
p.Leu239= Single submitter aniridia 1
p.Leu343= Single submitter aniridia 1
p.Leu410= Single submitter aniridia 1
p.Leu71= Single submitter aniridia 1
p.Pro178= Single submitter aniridia 1
p.Pro20= Single submitter aniridia 1
p.Pro347= Single submitter aniridia 1
p.Pro356= Single submitter aniridia 1
p.Pro373= Single submitter aniridia 1
p.Pro388= Single submitter aniridia 1
p.Pro422= Single submitter aniridia 1
p.Pro90= Single submitter Peters anomaly
p.Ser110= Single submitter aniridia 1
p.Ser122= Single submitter aniridia 1
p.Ser135= Single submitter aniridia 1
p.Ser146= Single submitter Peters anomaly
p.Ser306= Single submitter aniridia 1
p.Ser327= Single submitter aniridia 1
p.Ser341= Single submitter aniridia 1
p.Ser366= Single submitter aniridia 1
p.Ser367= Single submitter aniridia 1
p.Ser377= Single submitter aniridia 1
p.Ser403= Single submitter aniridia 1
p.Ser429= Single submitter aniridia 1
p.Ser79= Single submitter aniridia 1
p.Ter437Lys Single submitter
p.Thr187= Single submitter aniridia 1
p.Thr317= Single submitter aniridia 1
p.Thr339= Single submitter Peters anomaly
p.Thr387= Single submitter aniridia 1
p.Thr405= Single submitter
p.Tyr310= Single submitter aniridia 1
p.Tyr340= Single submitter aniridia 1
p.Tyr431= Single submitter aniridia 1
p.Tyr75= Single submitter aniridia 1
p.Val125Phe Single submitter aniridia 1 ⚠
p.Val14= Single submitter aniridia 1
p.Val320= Single submitter aniridia 1
p.Val92= Single submitter aniridia 1
c.1074+114C>T No assertion criteria PAX6-related disorder
c.1074+138T>C No assertion criteria PAX6-related disorder
c.400-7T>C No assertion criteria

Uncertain significance 255

c.1074+6T>C Multiple submitters aniridia 1
c.*357A>T Multiple submitters carboxymethyl-dextran-A2-gadolinium-DOTA
p.Arg139Thr Multiple submitters aniridia 1 ⚠
p.Arg19Leu Multiple submitters Peters anomaly ⚠
p.Arg19Trp Multiple submitters aniridia 1 ⚠
p.Asp210Glu Multiple submitters aniridia 1 ⚠
p.Gln103Pro Multiple submitters WAGR syndrome ⚠
p.Gln436Arg Multiple submitters aniridia 1
p.Glu195Asp Multiple submitters aniridia 1 ⚠
p.Gly13Asp Multiple submitters aniridia 1 ⚠
p.Gly197Ala Multiple submitters Peters anomaly ⚠
p.Met400Val Multiple submitters aniridia 1 ⚠
p.Met428Val Multiple submitters Peters anomaly ⚠
p.Pro186_Gln188del Multiple submitters autosomal dominant keratitis
p.Pro22Leu Multiple submitters aniridia 1 ⚠
p.Pro344Leu Multiple submitters aniridia 1 ⚠
p.Ser348Thr Multiple submitters aniridia 1 ⚠
p.Thr201Ser Multiple submitters aniridia 1 ⚠
p.Thr387Ala Multiple submitters aniridia 1 ⚠
p.Trp271Ser Multiple submitters aniridia 1 ⚠
p.Tyr157Cys Multiple submitters aniridia 1 ⚠
c.10+5G>T Single submitter aniridia 1
c.1074+139C>T Single submitter coloboma, ocular, autosomal dominant
c.1074+3A>G Single submitter aniridia 1
c.1074+4A>G Single submitter aniridia 1
c.1074+5G>T Single submitter aniridia 1
c.1075-28_1075-25delinsGACTGTGGACTGGGGGCTG Single submitter
c.1075-4A>T Single submitter
c.1211_1225+1del Single submitter aniridia 1
c.1225+2_1225+3insA Single submitter Structural eye disease
c.141+3G>A Single submitter aniridia 1
c.141+3G>C Single submitter aniridia 1
c.141+54C>A Single submitter
c.141+6C>T Single submitter aniridia 1
c.183+7T>C Single submitter
c.184-3C>T Single submitter aniridia 1
c.184-8C>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.399+136G>A Single submitter aniridia 1
c.399+334G>A Single submitter aniridia 1
c.399+3A>T Single submitter Peters anomaly
c.399+4A>G Single submitter
c.566-19C>T Single submitter
c.566-3C>T Single submitter aniridia 1
c.724+20T>C Single submitter aniridia 1
c.724+3G>A Single submitter aniridia 1
c.724+8_724+9del Single submitter aniridia 1
c.725-14A>G Single submitter aniridia 1
c.725-8T>A Single submitter aniridia 1
c.-120_-118dup Single submitter aniridia 1
c.-129+1G>C Single submitter
c.-129+1G>T Single submitter
c.-12G>A Single submitter
c.-137C>T Single submitter Peters anomaly
c.-140T>A Single submitter isolated optic nerve hypoplasia
c.-167G>T Single submitter foveal hypoplasia 1
c.-268+3906del Single submitter
c.-507T>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.-52+4A>C Single submitter aniridia 1
c.-59G>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*1053T>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*107G>C Single submitter autosomal dominant keratitis
c.*1287A>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*1394A>C Single submitter autosomal dominant keratitis
c.*1521C>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*1604A>T Single submitter autosomal dominant keratitis
c.*1839T>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*1868C>A Single submitter Anophthalmia-microphthalmia syndrome
c.*1969A>G Single submitter Anophthalmia-microphthalmia syndrome
c.*207G>A Single submitter Anophthalmia-microphthalmia syndrome
c.*2087C>A Single submitter Anophthalmia-microphthalmia syndrome
c.*2159C>T Single submitter foveal hypoplasia 1
c.*226T>C Single submitter autosomal dominant keratitis
c.*2354C>T Single submitter Anophthalmia-microphthalmia syndrome
c.*2385G>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*2393T>C Single submitter autosomal dominant keratitis
c.*2432A>G Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*247T>A Single submitter foveal hypoplasia 1
c.*2490G>A Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*2638C>G Single submitter Anophthalmia-microphthalmia syndrome
c.*2695A>T Single submitter Anophthalmia-microphthalmia syndrome
c.*2704A>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*272T>G Single submitter foveal hypoplasia 1
c.*2822T>C Single submitter Anophthalmia-microphthalmia syndrome
c.*2906A>G Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*3027G>A Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*3107C>T Single submitter Anophthalmia-microphthalmia syndrome
c.*3203A>G Single submitter Anophthalmia-microphthalmia syndrome
c.*335T>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*3418C>T Single submitter Anophthalmia-microphthalmia syndrome
c.*3565A>G Single submitter Anophthalmia-microphthalmia syndrome
c.*356del Single submitter
c.*3694A>G Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*3854A>G Single submitter
c.*3888C>A Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*3908C>T Single submitter autosomal dominant keratitis
c.*4003G>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*4023G>A Single submitter Anophthalmia-microphthalmia syndrome
c.*4076A>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*4128C>T Single submitter autosomal dominant keratitis
c.*4361T>C Single submitter foveal hypoplasia 1
c.*4369G>C Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*4533T>C Single submitter autosomal dominant keratitis
c.*4784C>T Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
c.*4795T>G Single submitter Anophthalmia-microphthalmia syndrome
c.*5006C>G Single submitter Anophthalmia-microphthalmia syndrome
c.*626G>C Single submitter foveal hypoplasia 1
c.*90A>C Single submitter foveal hypoplasia 1
c.*939A>G Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA
p.Ala153Val Single submitter PAX6-related disorder ⚠
p.Ala335Gly Single submitter aniridia 1 ⚠
p.Ala33Pro Single submitter ⚠
p.Ala342Ser Single submitter ⚠
p.Arg117Pro Single submitter aniridia 1 ⚠
p.Arg119Lys Single submitter Inborn genetic diseases ⚠
p.Arg139Ser Single submitter aniridia 1 ⚠
p.Arg142Ser Single submitter ⚠
p.Arg173His Single submitter Peters anomaly ⚠
p.Arg19Gln Single submitter aniridia 1 ⚠
p.Arg222Gln Single submitter ⚠
p.Arg226Ser Single submitter PAX6-related disorder ⚠
p.Arg331Gln Single submitter foveal hypoplasia 1 ⚠
p.Arg381Gln Single submitter aniridia 1 ⚠
p.Arg381Trp Single submitter aniridia 1
p.Arg38Leu Single submitter aniridia 1 ⚠
p.Arg434Lys Single submitter coloboma of optic nerve
p.Arg44Gly Single submitter aniridia 1 ⚠
p.Arg73= Single submitter foveal hypoplasia 1
p.Arg83Ser Single submitter aniridia 1 ⚠
p.Asn207Asp Single submitter ⚠
p.Asn207Lys Single submitter aniridia 1
p.Asn61Lys Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
p.Asp212Gly Single submitter aniridia 1
p.Asp212His Single submitter aniridia 1 ⚠
p.Asp212Tyr Single submitter ⚠
p.Asp333Asn Single submitter ⚠
p.Asp333Glu Single submitter ⚠
p.Asp41His Single submitter ⚠
p.Cys126Tyr Single submitter aniridia 1 ⚠
p.Gln166His Single submitter aniridia 1 ⚠
p.Gln185Lys Single submitter aniridia 1 ⚠
p.Gln192Lys Single submitter aniridia 1 ⚠
p.Gln194His Single submitter ⚠
p.Gln215Lys Single submitter aniridia 1 ⚠
p.Gln219Pro Single submitter ⚠
p.Gln27= Single submitter foveal hypoplasia 1
p.Gln27His Single submitter aniridia 1 ⚠
p.Gln291His Single submitter Inborn genetic diseases ⚠
p.Glu123Lys Single submitter aniridia 1 ⚠
p.Glu76Gln Single submitter Inborn genetic diseases ⚠
p.Glu96Ala Single submitter ⚠
p.Glu96Asp Single submitter Inborn genetic diseases ⚠
p.Gly124Arg Single submitter aniridia 1 ⚠
p.Gly155Asp Single submitter aniridia 1 ⚠
p.Gly165Glu Single submitter Inborn genetic diseases ⚠
p.Gly165Trp Single submitter Peters anomaly ⚠
p.Gly168Ala Single submitter ⚠
p.Gly168Arg Single submitter ⚠
p.Gly171Asp Single submitter Inborn genetic diseases ⚠
p.Gly171Ser Single submitter foveal hypoplasia 1 ⚠
p.Gly171Val Single submitter aniridia 1 ⚠
p.Gly175Asp Single submitter Peters anomaly ⚠
p.Gly179Trp Single submitter foveal hypoplasia 1 ⚠
p.Gly184Ala Single submitter aniridia 1 ⚠
p.Gly18Glu Single submitter aniridia 1 ⚠
p.Gly197Arg Single submitter carboxymethyl-dextran-A2-gadolinium-DOTA ⚠
p.Gly65Glu Single submitter aniridia 1 ⚠
p.Gly7Arg Single submitter ⚠
p.Gly7Val Single submitter aniridia 1 ⚠
p.Gly86Ala Single submitter aniridia 1 ⚠
p.His390Asn Single submitter aniridia 1 ⚠
p.His394Gln Single submitter aniridia 1 ⚠
p.His5Tyr Single submitter Inborn genetic diseases ⚠
p.Ile101Val Single submitter Peters anomaly ⚠
p.Ile137Val Single submitter ⚠
p.Ile268Arg Single submitter aniridia 1 ⚠
p.Ile411Phe Single submitter aniridia 1 ⚠
p.Ile42Leu Single submitter aniridia 1 ⚠
p.Leu141Pro Single submitter ⚠
p.Leu160Val Single submitter aniridia 1 ⚠
p.Leu163Phe Single submitter Inborn genetic diseases ⚠
p.Leu32Arg Single submitter aniridia 1 ⚠
p.Lys69Asn Single submitter ⚠
p.Met151Ile Single submitter Anophthalmia-microphthalmia syndrome ⚠
p.Met156Leu Single submitter Inborn genetic diseases ⚠
p.Met216Thr Single submitter Inborn genetic diseases ⚠
p.Met391Ile Single submitter Inborn genetic diseases ⚠
p.Met391Leu Single submitter aniridia 1 ⚠
p.Met391Thr Single submitter Inborn genetic diseases ⚠
p.Met395Ile Single submitter aniridia 1 ⚠
p.Met395Val Single submitter aniridia 1 ⚠
p.Met400Thr Single submitter ⚠
p.Phe112Leu Single submitter Peters anomaly ⚠
p.Pro174Leu Single submitter Inborn genetic diseases ⚠
p.Pro178Leu Single submitter Peters anomaly ⚠
p.Pro186Thr Single submitter Peters anomaly ⚠
p.Pro20Ser Single submitter aniridia 1 ⚠
p.Pro22Arg Single submitter aniridia 1 ⚠
p.Pro312Ala Single submitter aniridia 1 ⚠
p.Pro319Leu Single submitter Peters anomaly ⚠
p.Pro359Ser Single submitter aniridia 1 ⚠
p.Pro360Ala Single submitter ⚠
p.Pro399Ser Single submitter aniridia 1 ⚠
p.Pro39Ala Single submitter aniridia 1 ⚠
p.Pro82Leu Single submitter aniridia 1 ⚠
p.Pro95Ser Single submitter ⚠
p.Ser133= Single submitter aniridia 1
p.Ser133Ile Single submitter aniridia 1 ⚠
p.Ser181Leu Single submitter ⚠
p.Ser181Thr Single submitter aniridia 1 ⚠
p.Ser230= Single submitter autosomal dominant keratitis
p.Ser273Pro Single submitter aniridia 1 ⚠
p.Ser293Asn Single submitter Peters anomaly ⚠
p.Ser322Pro Single submitter aniridia 1 ⚠
p.Ser341Gly Single submitter aniridia 1 ⚠
p.Ser377Leu Single submitter aniridia 1 ⚠
p.Ser397Gly Single submitter aniridia 1 ⚠
p.Ser407Leu Single submitter Inborn genetic diseases
p.Ser4Thr Single submitter ⚠
p.Ser6Arg Single submitter Inborn genetic diseases ⚠
p.Ser88Cys Single submitter aniridia 1 ⚠
p.Ser99Gly Single submitter ⚠
p.Ter437LysextTer? Single submitter aniridia 1
p.Thr127Ala Single submitter aniridia 1 ⚠
p.Thr167Ser Single submitter aniridia 1 ⚠
p.Thr180Ser Single submitter Peters anomaly ⚠
p.Thr187Met Single submitter foveal hypoplasia 1 ⚠
p.Thr187Ser Single submitter aniridia 1
p.Thr295= Single submitter foveal hypoplasia 1
p.Thr307Pro Single submitter aniridia 1 ⚠
p.Thr307Ser Single submitter Inborn genetic diseases ⚠
p.Thr317Ala Single submitter Peters anomaly ⚠
p.Thr324Ser Single submitter aniridia 1 ⚠
p.Thr365Asn Single submitter ⚠
p.Thr374Ile Single submitter Peters anomaly ⚠
p.Thr385Ile Single submitter aniridia 1 ⚠
p.Thr48Asn Single submitter
p.Thr77Asn Single submitter aniridia 1 ⚠
p.Thr94Ala Single submitter aniridia 1 ⚠
p.Tyr340Cys Single submitter aniridia 1 ⚠
p.Val134Leu Single submitter ⚠
p.Val16Asp Single submitter ⚠
p.Val270Leu Single submitter ⚠
p.Val30Ile Single submitter aniridia 1 ⚠
p.Val361Ile Single submitter aniridia 1 ⚠
p.Val54Gly Single submitter
p.Val62Gly Single submitter aniridia 1 ⚠
p.Val67Met Single submitter PAX6-related disorder ⚠
p.Val8Ala Single submitter ⚠
p.Val92Leu Single submitter aniridia 1 ⚠
p.Val97Ala Single submitter Peters anomaly ⚠
c.1074+140G>A No assertion criteria PAX6-related disorder
c.1225+4dup No assertion criteria aniridia 1
c.724+4del No assertion criteria aniridia 1
p.Asp58Gly No assertion criteria PAX6-related disorder
p.Glu213Asp No assertion criteria PAX6-related disorder ⚠