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Variants search result for Homo sapiens
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890 records found for search term Pax6
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11651004CV320145single nucleotide variantNM_000280.4(PAX6):c.*939A>G11p partial monosomy syndrome [RCV000372909]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000401108]|Anophthalmia-microphthalmia syndrome [RCV000347675]|Autosomal dominant keratitis [RCV000334588]|Congenital aniridia [RCV005420097]|Foveal hypoplasia 1 [RCV000296426]|carboxymethyl-dexuncertain significance113178899531788995Human6name
13208128CV424549duplicationNM_000280.5(PAX6):c.-125dupAniridia 1 [RCV000495993]|not specified [RCV000615408]likely benign|uncertain significance113180692131806922Human1name
156436003CV2402495single nucleotide variantNM_000280.4(PAX6):c.*3854A>Gnot provided [RCV003123297]uncertain significance113178608031786080Humanname
11600268CV313856single nucleotide variantNM_000280.4(PAX6):c.*4627A>C11p partial monosomy syndrome [RCV000324957]|Aniridia 1 [RCV000272198]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000364661]|Anophthalmia-microphthalmia syndrome [RCV000333529]|Autosomal dominant keratitis [RCV000302967]|Foveal hypoplasia 1 [RCV000381933]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178530731785307Human6name
11650548CV313857single nucleotide variantNM_000280.4(PAX6):c.*4076A>C11p partial monosomy syndrome [RCV000385439]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000294730]|Anophthalmia-microphthalmia syndrome [RCV000351915]|Autosomal dominant keratitis [RCV000337027]|Congenital aniridia [RCV005420065]|Foveal hypoplasia 1 [RCV000293699]|carboxymethyl-dexuncertain significance113178585831785858Human6name
11645677CV313862single nucleotide variantNM_000280.4(PAX6):c.*4003G>T11p partial monosomy syndrome [RCV000403445]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000407623]|Anophthalmia-microphthalmia syndrome [RCV000297220]|Autosomal dominant keratitis [RCV000358057]|Congenital aniridia [RCV005420066]|Foveal hypoplasia 1 [RCV000305589]|carboxymethyl-dexuncertain significance113178593131785931Human6name
11601140CV313863single nucleotide variantNM_000280.4(PAX6):c.*3318A>G11p partial monosomy syndrome [RCV000352015]|Aniridia 1 [RCV000334419]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000292478]|Anophthalmia-microphthalmia syndrome [RCV000279629]|Autosomal dominant keratitis [RCV000386924]|Foveal hypoplasia 1 [RCV000399967]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178661631786616Human6name
11599246CV313867single nucleotide variantNM_000280.4(PAX6):c.*2901T>C11p partial monosomy syndrome [RCV000267644]|Aniridia 1 [RCV000360034]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263956]|Anophthalmia-microphthalmia syndrome [RCV000321448]|Autosomal dominant keratitis [RCV000291853]|Foveal hypoplasia 1 [RCV000325181]|carboxymethyl-dextran-A2-gbenign|likely benign113178703331787033Human6name
11644607CV313872single nucleotide variantNM_000280.4(PAX6):c.*1521C>T11p partial monosomy syndrome [RCV000374058]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000260716]|Anophthalmia-microphthalmia syndrome [RCV000295352]|Autosomal dominant keratitis [RCV000389641]|Congenital aniridia [RCV005420091]|Foveal hypoplasia 1 [RCV000331591]|carboxymethyl-dexuncertain significance113178841331788413Human6name
11600825CV313873single nucleotide variantNM_000280.4(PAX6):c.*1394A>C11p partial monosomy syndrome [RCV000300342]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000355143]|Anophthalmia-microphthalmia syndrome [RCV000331972]|Autosomal dominant keratitis [RCV000391903]|Congenital aniridia [RCV005420093]|Foveal hypoplasia 1 [RCV000303659]|carboxymethyl-dexuncertain significance113178854031788540Human6name
11600671CV313874single nucleotide variantNM_000280.4(PAX6):c.*1287A>T11p partial monosomy syndrome [RCV000328249]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000288319]|Anophthalmia-microphthalmia syndrome [RCV000367996]|Autosomal dominant keratitis [RCV000379158]|Congenital aniridia [RCV005420094]|Foveal hypoplasia 1 [RCV000326989]|carboxymethyl-dexlikely benign|uncertain significance113178864731788647Human6name
11601286CV313877single nucleotide variantNM_000280.4(PAX6):c.*1184A>T11p partial monosomy syndrome [RCV000399005]|Aniridia 1 [RCV000286998]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000339784]|Anophthalmia-microphthalmia syndrome [RCV000280988]|Autosomal dominant keratitis [RCV000398435]|Foveal hypoplasia 1 [RCV000298746]|carboxymethyl-dextran-A2-gbenign113178875031788750Human8name
11601286CV313877single nucleotide variantNM_000280.4(PAX6):c.*1184A>T11p partial monosomy syndrome [RCV000399005]|Aniridia 1 [RCV000286998]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000339784]|Anophthalmia-microphthalmia syndrome [RCV000280988]|Autosomal dominant keratitis [RCV000398435]|Foveal hypoplasia 1 [RCV000298746]|carboxymethyl-dextran-A2-gbenign113178875031788751Human8name
11600178CV313885single nucleotide variantNM_000280.4(PAX6):c.*1063A>G11p partial monosomy syndrome [RCV000362658]|Aniridia 1 [RCV000368259]|Anophthalmia-microphthalmia syndrome [RCV000399196]|Autosomal dominant keratitis [RCV000328843]|Congenital aniridia [RCV005420095]|Foveal hypoplasia 1 [RCV000369538]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000271497]benign113178887131788871Human7name
11599116CV320061single nucleotide variantNM_000280.4(PAX6):c.*5108A>G11p partial monosomy syndrome [RCV000354188]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000271935]|Anophthalmia-microphthalmia syndrome [RCV000262804]|Autosomal dominant keratitis [RCV000296937]|Congenital aniridia [RCV005420058]|Foveal hypoplasia 1 [RCV000321208]|carboxymethyl-dexbenign|likely benign113178482631784826Human6name
11599264CV320069single nucleotide variantNM_000280.4(PAX6):c.*4696G>C11p partial monosomy syndrome [RCV000335218]|Aniridia 1 [RCV000304821]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000402987]|Anophthalmia-microphthalmia syndrome [RCV000361151]|Autosomal dominant keratitis [RCV000264095]|Foveal hypoplasia 1 [RCV000301374]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178523831785238Human6name
11600949CV320071single nucleotide variantNM_000280.4(PAX6):c.*4599T>G11p partial monosomy syndrome [RCV000336938]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000335986]|Anophthalmia-microphthalmia syndrome [RCV000385650]|Autosomal dominant keratitis [RCV000293624]|Congenital aniridia [RCV005420060]|Foveal hypoplasia 1 [RCV000278465]|carboxymethyl-dexbenign|likely benign113178533531785335Human6name
11649020CV320080single nucleotide variantNM_000280.4(PAX6):c.*4361T>C11p partial monosomy syndrome [RCV000323907]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000284918]|Anophthalmia-microphthalmia syndrome [RCV000285293]|Autosomal dominant keratitis [RCV000407285]|Congenital aniridia [RCV005420063]|Foveal hypoplasia 1 [RCV000377032]|carboxymethyl-dexuncertain significance113178557331785573Human6name
11600279CV320084single nucleotide variantNM_000280.4(PAX6):c.*3958G>A11p partial monosomy syndrome [RCV000272675]|Aniridia 1 [RCV000307913]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000333466]|Anophthalmia-microphthalmia syndrome [RCV000386873]|Autosomal dominant keratitis [RCV000273772]|Foveal hypoplasia 1 [RCV000327646]|carboxymethyl-dextran-A2-gbenign113178597631785976Human11name
11647995CV320087single nucleotide variantNM_000280.4(PAX6):c.*3908C>T11p partial monosomy syndrome [RCV000280660]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000392365]|Anophthalmia-microphthalmia syndrome [RCV000387813]|Autosomal dominant keratitis [RCV000340296]|Congenital aniridia [RCV005420067]|Foveal hypoplasia 1 [RCV000375135]|carboxymethyl-dexuncertain significance113178602631786026Human6name
11649294CV320100single nucleotide variantNM_000280.4(PAX6):c.*2551C>T11p partial monosomy syndrome [RCV000382003]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000290011]|Anophthalmia [RCV000286354]|Autosomal dominant keratitis [RCV000312885]|Congenital aniridia [RCV005420080]|Foveal hypoplasia 1 [RCV000347340]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178738331787383Human8name
11599475CV320102single nucleotide variantNM_000280.4(PAX6):c.*2416G>T11p partial monosomy syndrome [RCV000360468]|Aniridia 1 [RCV000265732]|Anophthalmia-microphthalmia syndrome [RCV000407121]|Autosomal dominant keratitis [RCV000305849]|Congenital aniridia [RCV005420083]|Foveal hypoplasia 1 [RCV000309419]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000407135]|not probenign|likely benign113178751831787518Human7name
11649667CV320111single nucleotide variantNM_000280.4(PAX6):c.*2393T>C11p partial monosomy syndrome [RCV000292600]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000347571]|Anophthalmia-microphthalmia syndrome [RCV000390045]|Autosomal dominant keratitis [RCV000386979]|Congenital aniridia [RCV005420085]|Foveal hypoplasia 1 [RCV000288625]|carboxymethyl-dexuncertain significance113178754131787541Human6name
11644475CV320112single nucleotide variantNM_000280.4(PAX6):c.*2387G>T11p partial monosomy syndrome [RCV000354896]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000333867]|Anophthalmia [RCV000300661]|Autosomal dominant keratitis [RCV000391332]|Congenital aniridia [RCV005420086]|Foveal hypoplasia 1 [RCV000358876]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178754731787547Human8name
11647215CV320114single nucleotide variantNM_000280.4(PAX6):c.*2385G>C11p partial monosomy syndrome [RCV000384842]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000275152]|Anophthalmia-microphthalmia syndrome [RCV000327107]|Autosomal dominant keratitis [RCV000330175]|Congenital aniridia [RCV005420087]|Foveal hypoplasia 1 [RCV000381755]|carboxymethyl-dexuncertain significance113178754931787549Human6name
11601655CV320134single nucleotide variantNM_000280.4(PAX6):c.*2305G>A11p partial monosomy syndrome [RCV000338811]|Aniridia 1 [RCV000287214]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000378342]|Anophthalmia-microphthalmia syndrome [RCV000402026]|Autosomal dominant keratitis [RCV000298046]|Foveal hypoplasia 1 [RCV000283877]|carboxymethyl-dextran-A2-gbenign113178762931787629Human6name
11600473CV320135single nucleotide variantNM_000280.4(PAX6):c.*2238T>G11p partial monosomy syndrome [RCV000274301]|Aniridia 1 [RCV000368069]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000393911]|Anophthalmia-microphthalmia syndrome [RCV000313354]|Autosomal dominant keratitis [RCV000334283]|Foveal hypoplasia 1 [RCV000310659]|carboxymethyl-dextran-A2-gbenign|likely benign113178769631787696Human6name
11599292CV320138single nucleotide variantNM_000280.4(PAX6):c.*1604A>T11p partial monosomy syndrome [RCV000264355]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000362170]|Anophthalmia-microphthalmia syndrome [RCV000358805]|Autosomal dominant keratitis [RCV000303983]|Congenital aniridia [RCV005420090]|Foveal hypoplasia 1 [RCV000390212]|carboxymethyl-dexlikely benign|uncertain significance113178833031788330Human6name
11602169CV320142single nucleotide variantNM_000280.4(PAX6):c.*1478C>T11p partial monosomy syndrome [RCV000291615]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000346558]|Anophthalmia-microphthalmia syndrome [RCV000343373]|Autosomal dominant keratitis [RCV000288429]|Congenital aniridia [RCV005420092]|Foveal hypoplasia 1 [RCV000399687]|carboxymethyl-dexbenign|likely benign113178845631788456Human6name
11645271CV320143single nucleotide variantNM_000280.4(PAX6):c.*1053T>C11p partial monosomy syndrome [RCV000321837]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000379592]|Anophthalmia-microphthalmia syndrome [RCV000270395]|Autosomal dominant keratitis [RCV000374150]|Congenital aniridia [RCV005420096]|Foveal hypoplasia 1 [RCV000322584]|carboxymethyl-dexpathogenic|uncertain significance113178888131788881Human6name
11615188CV326222single nucleotide variantNM_000280.4(PAX6):c.*4533T>C11p partial monosomy syndrome [RCV000362512]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000313520]|Anophthalmia-microphthalmia syndrome [RCV000310183]|Autosomal dominant keratitis [RCV000405656]|Congenital aniridia [RCV005420061]|Foveal hypoplasia 1 [RCV000283304]|carboxymethyl-dexuncertain significance113178540131785401Human6name
11644438CV326244single nucleotide variantNM_000280.4(PAX6):c.*4128C>T11p partial monosomy syndrome [RCV000260177]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000268405]|Anophthalmia-microphthalmia syndrome [RCV000383156]|Autosomal dominant keratitis [RCV000317778]|Congenital aniridia [RCV005420064]|Foveal hypoplasia 1 [RCV000291188]|carboxymethyl-dexuncertain significance113178580631785806Human6name
11614267CV326245single nucleotide variantNM_000280.4(PAX6):c.*3885G>T11p partial monosomy syndrome [RCV000305276]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000310707]|Anophthalmia-microphthalmia syndrome [RCV000392381]|Autosomal dominant keratitis [RCV000345704]|Congenital aniridia [RCV005420068]|Foveal hypoplasia 1 [RCV000365364]|carboxymethyl-dexbenign|likely benign113178604931786049Human6name
11612938CV326246single nucleotide variantNM_000280.4(PAX6):c.*3746C>T11p partial monosomy syndrome [RCV000378193]|Aniridia 1 [RCV000371323]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000372529]|Anophthalmia-microphthalmia syndrome [RCV000319012]|Autosomal dominant keratitis [RCV000317915]|Foveal hypoplasia 1 [RCV000263779]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178618831786188Human6name
11614735CV326248single nucleotide variantNM_000280.4(PAX6):c.*3168C>T11p partial monosomy syndrome [RCV000373184]|Aniridia 1 [RCV000338913]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000374742]|Anophthalmia-microphthalmia syndrome [RCV000392251]|Autosomal dominant keratitis [RCV000279154]|Foveal hypoplasia 1 [RCV000285025]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178676631786766Human6name
11614013CV326251single nucleotide variantNM_000280.4(PAX6):c.*3027G>A11p partial monosomy syndrome [RCV000392243]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000345738]|Anophthalmia-microphthalmia syndrome [RCV000308649]|Autosomal dominant keratitis [RCV000314634]|Congenital aniridia [RCV005420072]|Foveal hypoplasia 1 [RCV000273407]|carboxymethyl-dexlikely benign|uncertain significance113178690731786907Human6name
11612602CV326252single nucleotide variantNM_000280.4(PAX6):c.*2985G>A11p partial monosomy syndrome [RCV000261905]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000321786]|Anophthalmia-microphthalmia syndrome [RCV000260635]|Autosomal dominant keratitis [RCV000369362]|Congenital aniridia [RCV005420073]|Foveal hypoplasia 1 [RCV000375220]|carboxymethyl-dexbenign|likely benign113178694931786949Human6name
11615469CV326255single nucleotide variantNM_000280.4(PAX6):c.*2977C>A11p partial monosomy syndrome [RCV000381317]|Aniridia 1 [RCV000399807]|Anophthalmia-microphthalmia syndrome [RCV000289228]|Autosomal dominant keratitis [RCV000346404]|Congenital aniridia [RCV005420074]|Foveal hypoplasia 1 [RCV000285847]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000311467]likely benign113178695731786957Human7name
11613985CV326256single nucleotide variantNM_000280.4(PAX6):c.*2882T>C11p partial monosomy syndrome [RCV000330763]|Aniridia 1 [RCV000315769]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000328303]|Anophthalmia-microphthalmia syndrome [RCV000387677]|Autosomal dominant keratitis [RCV000295851]|Foveal hypoplasia 1 [RCV000365693]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178705231787052Human6name
11612625CV326257single nucleotide variantNM_000280.4(PAX6):c.*2697T>A11p partial monosomy syndrome [RCV000353194]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000318395]|Anophthalmia-microphthalmia syndrome [RCV000375323]|Autosomal dominant keratitis [RCV000321546]|Congenital aniridia [RCV005420079]|Foveal hypoplasia 1 [RCV000264021]|carboxymethyl-dexbenign|likely benign113178723731787237Human6name
11612815CV326258single nucleotide variantNM_000280.4(PAX6):c.*2506C>T11p partial monosomy syndrome [RCV000393773]|Aniridia 1 [RCV000354753]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000358577]|Anophthalmia-microphthalmia syndrome [RCV000262281]|Autosomal dominant keratitis [RCV000351329]|Foveal hypoplasia 1 [RCV000297518]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178742831787428Human6name
11645555CV326270single nucleotide variantNM_000280.4(PAX6):c.*2490G>A11p partial monosomy syndrome [RCV000292096]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000380672]|Anophthalmia-microphthalmia syndrome [RCV000327175]|Autosomal dominant keratitis [RCV000269812]|Congenital aniridia [RCV005420081]|Foveal hypoplasia 1 [RCV000266223]|carboxymethyl-dexuncertain significance113178744431787444Human6name
11612860CV327197single nucleotide variantNM_000280.4(PAX6):c.*4370C>G11p partial monosomy syndrome [RCV000370578]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000330932]|Anophthalmia-microphthalmia syndrome [RCV000372621]|Autosomal dominant keratitis [RCV000263019]|Congenital aniridia [RCV005420062]|Foveal hypoplasia 1 [RCV000273553]|carboxymethyl-dexbenign|likely benign113178556431785564Human6name
11617002CV327203single nucleotide variantNM_000280.4(PAX6):c.*4296G>C11p partial monosomy syndrome [RCV000300259]|Aniridia 1 [RCV000345765]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000407248]|Anophthalmia-microphthalmia syndrome [RCV000405069]|Autosomal dominant keratitis [RCV000357434]|Foveal hypoplasia 1 [RCV000315571]|carboxymethyl-dextran-A2-gbenign113178563831785638Human6name
11612749CV327206single nucleotide variantNM_000280.4(PAX6):c.*3670C>T11p partial monosomy syndrome [RCV000268116]|Aniridia 1 [RCV000321836]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000291530]|Anophthalmia-microphthalmia syndrome [RCV000358001]|Autosomal dominant keratitis [RCV000261986]|Foveal hypoplasia 1 [RCV000381254]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178626431786264Human6name
11613818CV327207single nucleotide variantNM_000280.4(PAX6):c.*3202G>A11p partial monosomy syndrome [RCV000386337]|Aniridia 1 [RCV000277532]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000331769]|Anophthalmia-microphthalmia syndrome [RCV000271960]|Autosomal dominant keratitis [RCV000325808]|Foveal hypoplasia 1 [RCV000332589]|carboxymethyl-dextran-A2-gbenign113178673231786732Human8name
11613818CV327207single nucleotide variantNM_000280.4(PAX6):c.*3202G>A11p partial monosomy syndrome [RCV000386337]|Aniridia 1 [RCV000277532]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000331769]|Anophthalmia-microphthalmia syndrome [RCV000271960]|Autosomal dominant keratitis [RCV000325808]|Foveal hypoplasia 1 [RCV000332589]|carboxymethyl-dextran-A2-gbenign113178673231786733Human8name
11644638CV327214single nucleotide variantNM_000280.4(PAX6):c.*2906A>G11p partial monosomy syndrome [RCV000299309]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314745]|Anophthalmia-microphthalmia syndrome [RCV000393908]|Autosomal dominant keratitis [RCV000353270]|Congenital aniridia [RCV005420075]|Foveal hypoplasia 1 [RCV000260837]|carboxymethyl-dexuncertain significance113178702831787028Human6name
11614362CV327222single nucleotide variantNM_000280.4(PAX6):c.*2707C>T11p partial monosomy syndrome [RCV000306938]|Aniridia 1 [RCV000392121]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314986]|Anophthalmia-microphthalmia syndrome [RCV000368371]|Autosomal dominant keratitis [RCV000276213]|Foveal hypoplasia 1 [RCV000363855]|carboxymethyl-dextran-A2-gbenign113178722731787227Human6name
11648214CV327223single nucleotide variantNM_000280.4(PAX6):c.*2432A>G11p partial monosomy syndrome [RCV000334355]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000400105]|Anophthalmia-microphthalmia syndrome [RCV000349502]|Autosomal dominant keratitis [RCV000387741]|Congenital aniridia [RCV005420082]|Foveal hypoplasia 1 [RCV000338007]|carboxymethyl-dexuncertain significance113178750231787502Human6name
11613311CV327224single nucleotide variantNM_000280.4(PAX6):c.*2160G>A11p partial monosomy syndrome [RCV000325742]|Aniridia 1 [RCV000267117]|Anophthalmia-microphthalmia syndrome [RCV000282254]|Autosomal dominant keratitis [RCV000380270]|Congenital aniridia [RCV005420088]|Foveal hypoplasia 1 [RCV000376648]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000270682]|not probenign113178777431787774Human7name
11616600CV327241single nucleotide variantNM_000280.4(PAX6):c.*2159C>T11p partial monosomy syndrome [RCV000401325]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000337321]|Anophthalmia-microphthalmia syndrome [RCV000350910]|Autosomal dominant keratitis [RCV000296038]|Congenital aniridia [RCV005420089]|Foveal hypoplasia 1 [RCV000311443]|carboxymethyl-dexlikely benign|uncertain significance113178777531787775Human6name
14393301CV550343single nucleotide variantNM_000280.4(PAX6):c.-7421C>TAniridia 1 [RCV000757891]uncertain significance113181821931818219Human1name
28906724CV867820single nucleotide variantNM_000280.4(PAX6):c.*5006C>GAnophthalmia-microphthalmia syndrome [RCV001106821]|Autosomal dominant keratitis [RCV001107470]|Foveal hypoplasia 1 [RCV001107472]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107471]uncertain significance113178492831784928Human4name
28907887CV867821single nucleotide variantNM_000280.4(PAX6):c.*4795T>GAnophthalmia-microphthalmia syndrome [RCV001107475]|Autosomal dominant keratitis [RCV001107476]|Foveal hypoplasia 1 [RCV001107474]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107473]uncertain significance113178513931785139Human4name
28900461CV867822single nucleotide variantNM_000280.4(PAX6):c.*4784C>TAnophthalmia-microphthalmia syndrome [RCV001103845]|Autosomal dominant keratitis [RCV001103846]|Foveal hypoplasia 1 [RCV001103844]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107477]uncertain significance113178515031785150Human4name
28900718CV867823single nucleotide variantNM_000280.4(PAX6):c.*4369G>CAnophthalmia-microphthalmia syndrome [RCV001103953]|Autosomal dominant keratitis [RCV001103954]|Foveal hypoplasia 1 [RCV001103952]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103955]uncertain significance113178556531785565Human4name
28907072CV867824single nucleotide variantNM_000280.4(PAX6):c.*4023G>AAnophthalmia-microphthalmia syndrome [RCV001107672]|Autosomal dominant keratitis [RCV001107012]|Foveal hypoplasia 1 [RCV001107671]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107670]uncertain significance113178591131785911Human4name
28901676CV867825single nucleotide variantNM_000280.4(PAX6):c.*3888C>AAnophthalmia-microphthalmia syndrome [RCV001107099]|Autosomal dominant keratitis [RCV001104348]|Foveal hypoplasia 1 [RCV001104347]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104349]uncertain significance113178604631786046Human4name
28901188CV867826single nucleotide variantNM_000280.4(PAX6):c.*3694A>GAnophthalmia-microphthalmia syndrome [RCV001107769]|Autosomal dominant keratitis [RCV001107770]|Foveal hypoplasia 1 [RCV001104130]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104131]uncertain significance113178624031786240Human4name
28901903CV867827single nucleotide variantNM_000280.4(PAX6):c.*3565A>GAnophthalmia-microphthalmia syndrome [RCV001104435]|Autosomal dominant keratitis [RCV001104438]|Foveal hypoplasia 1 [RCV001104437]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104436]uncertain significance113178636931786369Human4name
28901911CV867828single nucleotide variantNM_000280.4(PAX6):c.*3428C>T11p partial monosomy syndrome [RCV001107188]|Aniridia 1 [RCV001104441]|Anophthalmia-microphthalmia syndrome [RCV001107187]|Autosomal dominant keratitis [RCV001104440]|Foveal hypoplasia 1 [RCV001104442]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104439]benign|likely benign|uncertain significance113178650631786506Human6name
28907401CV867829single nucleotide variantNM_000280.4(PAX6):c.*3418C>TAnophthalmia-microphthalmia syndrome [RCV001107190]|Autosomal dominant keratitis [RCV001107191]|Foveal hypoplasia 1 [RCV001107189]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107192]uncertain significance113178651631786516Human4name
28908458CV867830single nucleotide variantNM_000280.4(PAX6):c.*3203A>GAnophthalmia-microphthalmia syndrome [RCV001107838]|Autosomal dominant keratitis [RCV001107839]|Foveal hypoplasia 1 [RCV001107840]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107837]uncertain significance113178673131786731Human4name
28907541CV867831single nucleotide variantNM_000280.4(PAX6):c.*3107C>TAnophthalmia-microphthalmia syndrome [RCV001107284]|Autosomal dominant keratitis [RCV001107281]|Foveal hypoplasia 1 [RCV001107283]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107282]uncertain significance113178682731786827Human4name
28907688CV867832single nucleotide variantNM_000280.4(PAX6):c.*2822T>CAnophthalmia-microphthalmia syndrome [RCV001108027]|Autosomal dominant keratitis [RCV001107373]|Foveal hypoplasia 1 [RCV001107372]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107371]uncertain significance113178711231787112Human4name
28897959CV867833single nucleotide variantNM_000280.4(PAX6):c.*2704A>TAnophthalmia-microphthalmia syndrome [RCV001102804]|Autosomal dominant keratitis [RCV001102806]|Foveal hypoplasia 1 [RCV001108028]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001102805]uncertain significance113178723031787230Human4name
28902607CV867834single nucleotide variantNM_000280.4(PAX6):c.*2695A>TAnophthalmia-microphthalmia syndrome [RCV001104732]|Autosomal dominant keratitis [RCV001104730]|Foveal hypoplasia 1 [RCV001104733]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104731]uncertain significance113178723931787239Human4name
28902613CV867835single nucleotide variantNM_000280.4(PAX6):c.*2638C>GAnophthalmia-microphthalmia syndrome [RCV001104735]|Autosomal dominant keratitis [RCV001104734]|Foveal hypoplasia 1 [RCV001105873]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105874]uncertain significance113178729631787296Human4name
28905116CV867836single nucleotide variantNM_000280.4(PAX6):c.*2559G>A11p partial monosomy syndrome [RCV001105880]|Aniridia 1 [RCV001105875]|Anophthalmia-microphthalmia syndrome [RCV001105876]|Autosomal dominant keratitis [RCV001105877]|Foveal hypoplasia 1 [RCV001105879]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105878]benign113178737531787375Human6name
28909141CV867837single nucleotide variantNM_000280.4(PAX6):c.*2354C>TAnophthalmia-microphthalmia syndrome [RCV001108209]|Autosomal dominant keratitis [RCV001108208]|Foveal hypoplasia 1 [RCV001108206]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108207]uncertain significance113178758031787580Human4name
28905459CV867838single nucleotide variantNM_000280.4(PAX6):c.*2087C>AAnophthalmia-microphthalmia syndrome [RCV001106077]|Autosomal dominant keratitis [RCV001106078]|Foveal hypoplasia 1 [RCV001106080]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106079]uncertain significance113178784731787847Human4name
28909332CV867839single nucleotide variantNM_000280.4(PAX6):c.*1969A>GAnophthalmia-microphthalmia syndrome [RCV001108311]|Autosomal dominant keratitis [RCV001108310]|Foveal hypoplasia 1 [RCV001108312]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108309]uncertain significance113178796531787965Human4name
28909341CV867840single nucleotide variantNM_000280.4(PAX6):c.*1868C>AAnophthalmia-microphthalmia syndrome [RCV001108313]|Autosomal dominant keratitis [RCV001108316]|Foveal hypoplasia 1 [RCV001108314]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108315]uncertain significance113178806631788066Human4name
28898733CV867841single nucleotide variantNM_000280.4(PAX6):c.*1839T>CAnophthalmia-microphthalmia syndrome [RCV001103105]|Autosomal dominant keratitis [RCV001103106]|Foveal hypoplasia 1 [RCV001103107]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103108]uncertain significance113178809531788095Human4name
28905636CV867842single nucleotide variantNM_000280.4(PAX6):c.*1436G>A11p partial monosomy syndrome [RCV001106175]|Anophthalmia-microphthalmia syndrome [RCV001108390]|Autosomal dominant keratitis [RCV001106176]|Foveal hypoplasia 1 [RCV001106178]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106177]benign|likely benign113178849831788498Human5name
11645062CV320167single nucleotide variantNM_001368894.2(PAX6):c.-59G>T11p partial monosomy syndrome [RCV000316832]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263207]|Anophthalmia-microphthalmia syndrome [RCV000266327]|Autosomal dominant keratitis [RCV000353414]|Congenital aniridia [RCV005420108]|Foveal hypoplasia 1 [RCV000301643]|carboxymethyl-dexuncertain significance113180685631806856Human6name
11646436CV327218deletionNM_000280.4(PAX6):c.*2887delG11p partial monosomy syndrome [RCV000302597]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000363009]|Anophthalmia [RCV000407420]|Autosomal dominant keratitis [RCV000305976]|Congenital aniridia [RCV005420077]|Foveal hypoplasia 1 [RCV000270919]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178704731787047Human8name
616934371CV4012369single nucleotide variantNM_001368894.2(PAX6):c.-12G>Anot specified [RCV005409405]uncertain significance113180642331806423Humanname
28906088CV867847single nucleotide variantNM_001368894.2(PAX6):c.*90A>CAnophthalmia-microphthalmia syndrome [RCV001108643]|Autosomal dominant keratitis [RCV001106439]|Foveal hypoplasia 1 [RCV001108644]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106440]uncertain significance113178984431789844Human4name
150478708CV1207712single nucleotide variantNM_001368894.2(PAX6):c.-118T>CAniridia 1 [RCV002072342]|PAX6-related disorder [RCV004542036]|not provided [RCV001589988]likely benign113180691531806915Human3name , trait , alternate_id
152057761CV1574350single nucleotide variantNM_001368894.2(PAX6):c.10+7G>TAniridia 1 [RCV002189817]likely benign113180639531806395Human1name
152056841CV1606385single nucleotide variantNM_001368894.2(PAX6):c.10+7G>AAniridia 1 [RCV002181229]likely benign113180639531806395Human1name
155267333CV1696626single nucleotide variantNM_001368894.2(PAX6):c.-275G>Anot provided [RCV002281484]uncertain significance113181097431810974Humanname
8557449CV18518single nucleotide variantNM_001368894.2(PAX6):c.10+5G>CFoveal hypoplasia 1 [RCV000003648]pathogenic|likely pathogenic113180639731806397Human1name
156309295CV1878048single nucleotide variantNM_001368894.2(PAX6):c.10+1G>AAniridia 1 [RCV003062355]pathogenic113180640131806401Human1name
156367164CV2190319single nucleotide variantNM_001368894.2(PAX6):c.10+5G>TAniridia 1 [RCV003066027]uncertain significance113180639731806397Human1name
243057671CV2404374single nucleotide variantNM_001368894.2(PAX6):c.-284G>Anot provided [RCV003129400]uncertain significance113181098331810983Humanname
11601429CV320146single nucleotide variantNM_001368894.2(PAX6):c.*356T>A11p partial monosomy syndrome [RCV000397731]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000399607]|Anophthalmia-microphthalmia syndrome [RCV000340604]|Autosomal dominant keratitis [RCV000282065]|Congenital aniridia [RCV005420100]|Foveal hypoplasia 1 [RCV000313631]|carboxymethyl-dexbenign|uncertain significance113178957831789578Human6name
11600325CV320147single nucleotide variantNM_001368894.2(PAX6):c.*335T>C11p partial monosomy syndrome [RCV000325750]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000312872]|Anophthalmia-microphthalmia syndrome [RCV000365214]|Autosomal dominant keratitis [RCV000364057]|Congenital aniridia [RCV005420101]|Foveal hypoplasia 1 [RCV000399373]|carboxymethyl-dexuncertain significance113178959931789599Human6name
11650342CV320163single nucleotide variantNM_001368894.2(PAX6):c.*207G>A11p partial monosomy syndrome [RCV000351716]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000307259]|Anophthalmia-microphthalmia syndrome [RCV000292153]|Autosomal dominant keratitis [RCV000401650]|Congenital aniridia [RCV005420103]|Foveal hypoplasia 1 [RCV000336527]|carboxymethyl-dexuncertain significance113178972731789727Human6name
11644370CV320165duplicationNM_001368894.2(PAX6):c.*183dup11p partial monosomy syndrome [RCV000259852]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000303579]|Anophthalmia [RCV000358490]|Autosomal dominant keratitis [RCV000401821]|Congenital aniridia [RCV005420104]|Foveal hypoplasia 1 [RCV000268454]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178975031789751Human8name
11600241CV320197single nucleotide variantNM_001368894.2(PAX6):c.-180A>G11p partial monosomy syndrome [RCV000272084]|Aniridia 1 [RCV000377154]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000342124]|Anophthalmia-microphthalmia syndrome [RCV000329407]|Autosomal dominant keratitis [RCV000285056]|Foveal hypoplasia 1 [RCV000380395]|carboxymethyl-dextran-A2-glikely benign113181087931810879Human6name
11646165CV320198single nucleotide variantNM_001368894.2(PAX6):c.-368G>A11p partial monosomy syndrome [RCV000272429]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000377350]|Anophthalmia-microphthalmia syndrome [RCV000370938]|Autosomal dominant keratitis [RCV000320445]|Congenital aniridia [RCV005420110]|Foveal hypoplasia 1 [RCV000308255]|carboxymethyl-dexlikely benign|uncertain significance113181116631811166Human6name
11650959CV320199deletionNM_001368894.2(PAX6):c.-501del11p partial monosomy syndrome [RCV000358202]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000310419]|Anophthalmia [RCV000296188]|Autosomal dominant keratitis [RCV000349942]|Congenital aniridia [RCV005420112]|Foveal hypoplasia 1 [RCV000397808]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113181129931811299Human8name
11612809CV326272single nucleotide variantNM_001368894.2(PAX6):c.*891G>A11p partial monosomy syndrome [RCV000302550]|Aniridia 1 [RCV000268406]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000359529]|Anophthalmia-microphthalmia syndrome [RCV000402118]|Autosomal dominant keratitis [RCV000262557]|Foveal hypoplasia 1 [RCV000360559]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178904331789043Human6name
11613302CV326273single nucleotide variantNM_001368894.2(PAX6):c.*226T>C11p partial monosomy syndrome [RCV000377012]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000318915]|Anophthalmia-microphthalmia syndrome [RCV000324563]|Autosomal dominant keratitis [RCV000267048]|Congenital aniridia [RCV005420102]|Foveal hypoplasia 1 [RCV000284798]|carboxymethyl-dexuncertain significance113178970831789708Human6name
11615810CV326276single nucleotide variantNM_001368894.2(PAX6):c.-107C>T11p partial monosomy syndrome [RCV000344279]|Aniridia 1 [RCV000386945]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000289037]|Anophthalmia-microphthalmia syndrome [RCV000318475]|Autosomal dominant keratitis [RCV000387982]|Foveal hypoplasia 1 [RCV000292422]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113180690431806904Human6name
11644400CV326277single nucleotide variantNM_001368894.2(PAX6):c.-507T>C11p partial monosomy syndrome [RCV000361678]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263020]|Anophthalmia-microphthalmia syndrome [RCV000317592]|Autosomal dominant keratitis [RCV000304553]|Congenital aniridia [RCV005420113]|Foveal hypoplasia 1 [RCV000356027]|carboxymethyl-dexuncertain significance113181130531811305Human6name
11612694CV327242single nucleotide variantNM_001368894.2(PAX6):c.*841C>T11p partial monosomy syndrome [RCV000293262]|Aniridia 1 [RCV000333079]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000372434]|Anophthalmia-microphthalmia syndrome [RCV000320109]|Autosomal dominant keratitis [RCV000350505]|Foveal hypoplasia 1 [RCV000261503]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113178909331789093Human6name
11616152CV327259single nucleotide variantNM_001368894.2(PAX6):c.*417C>T11p partial monosomy syndrome [RCV000304850]|Aniridia 1 [RCV000344580]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000395638]|Anophthalmia-microphthalmia syndrome [RCV000291955]|Autosomal dominant keratitis [RCV000384032]|Foveal hypoplasia 1 [RCV000401249]|carboxymethyl-dextran-A2-gbenign|likely benign113178951731789517Human6name
11612890CV327263single nucleotide variantNM_001368894.2(PAX6):c.*357A>T11p partial monosomy syndrome [RCV000297659]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000356053]|Anophthalmia-microphthalmia syndrome [RCV000263589]|Autosomal dominant keratitis [RCV000329980]|Congenital aniridia [RCV005420098]|Foveal hypoplasia 1 [RCV000276474]|carboxymethyl-dexuncertain significance113178957731789577Human6name
11613798CV327272deletionNM_001368894.2(PAX6):c.*356del11p partial monosomy syndrome [RCV000323080]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000271415]|Anophthalmia [RCV000380091]|Autosomal dominant keratitis [RCV000289083]|Congenital aniridia [RCV005420099]|Foveal hypoplasia 1 [RCV000368325]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178957831789578Human8name
11647264CV327273single nucleotide variantNM_001368894.2(PAX6):c.*107G>C11p partial monosomy syndrome [RCV000374554]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000294817]|Anophthalmia-microphthalmia syndrome [RCV000345074]|Autosomal dominant keratitis [RCV000275361]|Congenital aniridia [RCV005420105]|Foveal hypoplasia 1 [RCV000389558]|carboxymethyl-dexuncertain significance113178982731789827Human6name
11645588CV327283single nucleotide variantNM_001368894.2(PAX6):c.-430G>C11p partial monosomy syndrome [RCV000323884]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000371409]|Anophthalmia-microphthalmia syndrome [RCV000337076]|Autosomal dominant keratitis [RCV000266405]|Congenital aniridia [RCV005420111]|Foveal hypoplasia 1 [RCV000375301]|carboxymethyl-dexuncertain significance113181122831811228Human6name
597901547CV3876663single nucleotide variantNM_001368894.2(PAX6):c.11-4T>AAniridia 1 [RCV005220361]likely benign113180283831802838Human1name
13539145CV503800duplicationNM_001368894.2(PAX6):c.-117dupnot specified [RCV000612866]likely benign113180691331806914Humanname
15173575CV789079single nucleotide variantNM_001368894.2(PAX6):c.11-2A>GAniridia 1 [RCV000984351]pathogenic113180283631802836Human1name
21405096CV800694single nucleotide variantNM_001368894.2(PAX6):c.10+1G>CCongenital aniridia [RCV005420276]pathogenic113180640131806401Human1name
28899237CV867843single nucleotide variantNM_001368894.2(PAX6):c.*842G>A11p partial monosomy syndrome [RCV001103308]|Aniridia 1 [RCV001103304]|Anophthalmia-microphthalmia syndrome [RCV001103303]|Autosomal dominant keratitis [RCV001103307]|Foveal hypoplasia 1 [RCV001103305]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103306]|not provided [RCV002282456]benign|likely benign113178909231789092Human6name
28903621CV867844single nucleotide variantNM_001368894.2(PAX6):c.*626G>CAnophthalmia-microphthalmia syndrome [RCV001105213]|Autosomal dominant keratitis [RCV001105214]|Foveal hypoplasia 1 [RCV001105215]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105216]uncertain significance113178930831789308Human4name
28899455CV867845single nucleotide variantNM_001368894.2(PAX6):c.*272T>GAnophthalmia-microphthalmia syndrome [RCV001103392]|Autosomal dominant keratitis [RCV001103390]|Foveal hypoplasia 1 [RCV001103393]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103391]uncertain significance113178966231789662Human4name
28899463CV867846single nucleotide variantNM_001368894.2(PAX6):c.*247T>AAnophthalmia-microphthalmia syndrome [RCV001105304]|Autosomal dominant keratitis [RCV001105305]|Foveal hypoplasia 1 [RCV001103394]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103395]uncertain significance113178968731789687Human4name
28900274CV867859single nucleotide variantNM_001368894.2(PAX6):c.-167G>TAnophthalmia-microphthalmia syndrome [RCV001103752]|Autosomal dominant keratitis [RCV001103754]|Foveal hypoplasia 1 [RCV001103751]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103753]uncertain significance113181086631810866Human4name
127286206CV975722duplicationNM_001368894.2(PAX6):c.-122dupAniridia 1 [RCV001449888]likely pathogenic113180691831806919Human1name
126773535CV1030204deletionNM_001368894.2(PAX6):c.-52+1delAniridia 1 [RCV001346239]likely pathogenic|uncertain significance113180684831806848Human1name
127314621CV1156693single nucleotide variantNM_001368894.2(PAX6):c.959-7C>TAniridia 1 [RCV001519685]|PAX6-related disorder [RCV004533942]benign|likely benign113179356031793560Human3name , trait , alternate_id
150337066CV1172248single nucleotide variantNM_001368894.2(PAX6):c.808-1G>Tnot provided [RCV001541385]pathogenic113179380331793803Humanname
150419187CV1180822single nucleotide variantNM_001368894.2(PAX6):c.807+6G>AAniridia 1 [RCV002568324]|not provided [RCV001550932]likely benign|uncertain significance113179402631794026Human1name
150411143CV1196068single nucleotide variantNM_001368894.2(PAX6):c.400-7T>Cnot provided [RCV001573517]likely benign113180086331800863Humanname
150438250CV1247145single nucleotide variantNM_001368894.2(PAX6):c.11-41T>Cnot provided [RCV001665914]benign113180287531802875Humanname
150539168CV1300168single nucleotide variantNM_001368894.2(PAX6):c.399+4A>Gnot provided [RCV001765638]uncertain significance113180155731801557Humanname
151831624CV1391074single nucleotide variantNM_001368894.2(PAX6):c.399+3A>TAniridia 1 [RCV001985462]uncertain significance113180155831801558Human1name
151827090CV1397773single nucleotide variantNM_001368894.2(PAX6):c.184-9C>GAniridia 1 [RCV001975988]likely benign|uncertain significance113180178531801785Human1name
151712629CV1400505single nucleotide variantNM_001368894.2(PAX6):c.958+4A>TAniridia 1 [RCV002007882]|not provided [RCV002253994]conflicting interpretations of pathogenicity|uncertain significance113179364831793648Human1name
151788912CV1427370single nucleotide variantNM_001368894.2(PAX6):c.184-3C>TAniridia 1 [RCV001899518]uncertain significance113180177931801779Human1name
151820817CV1484849single nucleotide variantNM_001368894.2(PAX6):c.399+1G>CAniridia 1 [RCV001963138]pathogenic113180156031801560Human1name
151826493CV1491194single nucleotide variantNM_001368894.2(PAX6):c.400-2A>TAniridia 1 [RCV001975078]pathogenic113180085831800858Human1name
151820529CV1494440single nucleotide variantNM_001368894.2(PAX6):c.399+2T>CAniridia 1 [RCV001962494]pathogenic113180155931801559Human1name
152055170CV1525069single nucleotide variantNM_001368894.2(PAX6):c.141+9C>GAniridia 1 [RCV002165309]likely benign113180269531802695Human1name
152046534CV1527722single nucleotide variantNM_001368894.2(PAX6):c.184-4G>TAniridia 1 [RCV002089050]likely benign113180178031801780Human1name
152052060CV1557414single nucleotide variantNM_001368894.2(PAX6):c.10+17T>CAniridia 1 [RCV002137189]likely benign113180638531806385Human1name
152061931CV1559767single nucleotide variantNM_001368894.2(PAX6):c.11-10C>GAniridia 1 [RCV002220949]likely benign113180284431802844Human1name
155644695CV1708755single nucleotide variantNM_001368894.2(PAX6):c.142-3T>CIris coloboma [RCV002291351]|PAX6-related ocular dysgenesis [RCV005250242]|not provided [RCV003317588]likely pathogenic|uncertain significance113180191531801915Human2name , trait
8557430CV18499single nucleotide variantNM_001368894.2(PAX6):c.725-6T>AAniridia 1 [RCV000003624]pathogenic113179412031794120Human1name
8557439CV18508single nucleotide variantNM_001368894.2(PAX6):c.959-2A>TAutosomal dominant keratitis [RCV001804148]pathogenic113179355531793555Human1name
156210434CV2036845single nucleotide variantNM_001368894.2(PAX6):c.10+13G>AAniridia 1 [RCV002790221]likely benign113180638931806389Human1name
155949200CV2123365single nucleotide variantNM_001368894.2(PAX6):c.141+3G>AAniridia 1 [RCV002971762]uncertain significance113180270131802701Human1name
156310569CV2133226single nucleotide variantNM_001368894.2(PAX6):c.399+9A>GAniridia 1 [RCV003011086]likely benign113180155231801552Human1name
155981678CV2157368single nucleotide variantNM_001368894.2(PAX6):c.724+3G>AAniridia 1 [RCV003016410]uncertain significance113179462731794627Human1name
156093207CV2183343single nucleotide variantNM_001368894.2(PAX6):c.566-1G>TAniridia 1 [RCV003054437]pathogenic113179478931794789Human1name
243052580CV2416181single nucleotide variantNM_001368894.2(PAX6):c.141+2T>Anot provided [RCV003149241]pathogenic113180270231802702Humanname
407428014CV2845032single nucleotide variantNM_001368894.2(PAX6):c.725-2A>GAniridia 1 [RCV004587519]likely pathogenic113179411631794116Human1name
402490896CV3091017single nucleotide variantNM_001368894.2(PAX6):c.724+7G>CAniridia 1 [RCV003787521]likely benign113179462331794623Human1name
404981808CV3099998single nucleotide variantNM_001368894.2(PAX6):c.10+11C>AAniridia 1 [RCV003791665]likely benign113180639131806391Human1name
405078579CV3100482single nucleotide variantNM_001368894.2(PAX6):c.184-5T>CAniridia 1 [RCV003800035]likely benign113180178131801781Human1name
405061338CV3102859single nucleotide variantNM_001368894.2(PAX6):c.11-20T>CAniridia 1 [RCV003798849]likely benign113180285431802854Human1name
405173357CV3104753single nucleotide variantNM_001368894.2(PAX6):c.724+1G>AAniridia 1 [RCV003803251]likely pathogenic113179462931794629Human1name
405075137CV3111646single nucleotide variantNM_001368894.2(PAX6):c.725-8T>AAniridia 1 [RCV003809986]uncertain significance113179412231794122Human1name
11651066CV313888single nucleotide variantNM_001368894.2(PAX6):c.184-8C>T11p partial monosomy syndrome [RCV000350255]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000396789]|Anophthalmia-microphthalmia syndrome [RCV000351386]|Autosomal dominant keratitis [RCV000296532]|Congenital aniridia [RCV005420107]|Foveal hypoplasia 1 [RCV000364779]|carboxymethyl-dexuncertain significance113180178431801784Human6name
596925235CV3541889single nucleotide variantNM_001368894.2(PAX6):c.399+2T>GAniridia 1 [RCV004795603]likely pathogenic113180155931801559Human1name
12742880CV359935single nucleotide variantNM_001368894.2(PAX6):c.958+1G>CAniridia 1 [RCV000984443]|not provided [RCV000414749]pathogenic113179365131793651Human1name
12742183CV360031single nucleotide variantNM_001368894.2(PAX6):c.959-9T>Anot provided [RCV000413082]likely pathogenic113179356231793562Humanname
12742449CV360032single nucleotide variantNM_001368894.2(PAX6):c.141+2T>Gnot provided [RCV000413692]pathogenic113180270231802702Humanname
12849046CV372362single nucleotide variantNM_001368894.2(PAX6):c.959-3C>GAniridia 1 [RCV001865384]|not provided [RCV000423209]pathogenic|likely pathogenic113179355631793556Human1name
597858434CV3864793single nucleotide variantNM_001368894.2(PAX6):c.-52+4A>CAniridia 1 [RCV005213849]uncertain significance113180684531806845Human1name
597906606CV3870187single nucleotide variantNM_001368894.2(PAX6):c.724+2T>CAniridia 1 [RCV005221238]pathogenic113179462831794628Human1name
597915404CV3878978single nucleotide variantNM_001368894.2(PAX6):c.11-19C>TAniridia 1 [RCV005222514]likely benign113180285331802853Human1name
597912905CV3879750single nucleotide variantNM_001368894.2(PAX6):c.10+20C>TAniridia 1 [RCV005222151]likely benign113180638231806382Human1name
12894912CV408333duplicationNM_001368894.2(PAX6):c.399+2dupnot provided [RCV000484622]pathogenic113180155831801559Humanname
12914127CV421851single nucleotide variantNM_001368894.2(PAX6):c.958+2T>Cnot provided [RCV000494686]pathogenic113179365031793650Humanname
13208195CV424518single nucleotide variantNM_001368894.2(PAX6):c.725-1G>CAniridia 1 [RCV000496074]pathogenic113179411531794115Human1name
13208147CV424519deletionNM_001368894.2(PAX6):c.724+4delAniridia 1 [RCV000496019]uncertain significance113179462631794626Human1name
13208142CV424538single nucleotide variantNM_001368894.2(PAX6):c.184-5T>GAniridia 1 [RCV000496014]|Aniridia 1 [RCV003766787]pathogenic|likely pathogenic113180178131801781Human1name
13208158CV424540single nucleotide variantNM_001368894.2(PAX6):c.141+4A>GAniridia 1 [RCV000496031]likely pathogenic113180270031802700Human1name
13435628CV432305single nucleotide variantNM_001368894.2(PAX6):c.141+1G>CAniridia 1 [RCV000505672]|not provided [RCV003886404]pathogenic113180270331802703Human1name
13442841CV434639single nucleotide variantNM_001368894.2(PAX6):c.808-2A>Cnot provided [RCV000509551]pathogenic|not provided113179380431793804Humanname
13501456CV461523single nucleotide variantNM_001368894.2(PAX6):c.399+4A>TAniridia 1 [RCV000541017]pathogenic|uncertain significance113180155731801557Human1name
13482710CV461844single nucleotide variantNM_001368894.2(PAX6):c.141+3G>CAniridia 1 [RCV000551981]uncertain significance113180270131802701Human1name
13520698CV495530single nucleotide variantNM_001368894.2(PAX6):c.141+1G>AAniridia 1 [RCV002531115]|not provided [RCV000598846]pathogenic113180270331802703Human1name
14393156CV550339deletionNM_001368894.2(PAX6):c.-52+5delAniridia 1 [RCV000757888]pathogenic113180684431806844Human1name
14743930CV665999single nucleotide variantNM_001368894.2(PAX6):c.11-12C>GAniridia 1 [RCV002068621]|not provided [RCV000842406]likely benign113180284631802846Human1name
15173794CV789060single nucleotide variantNM_001368894.2(PAX6):c.959-1G>CAniridia 1 [RCV000984448]pathogenic113179355431793554Human1name
15173790CV789061single nucleotide variantNM_001368894.2(PAX6):c.959-1G>AAniridia 1 [RCV000984447]|Aniridia 1 [RCV002549625]|not provided [RCV003325529]pathogenic|likely pathogenic113179355431793554Human1name
15173783CV789062single nucleotide variantNM_001368894.2(PAX6):c.958+1G>TAniridia 1 [RCV000984444]pathogenic113179365131793651Human1name
15173779CV789063single nucleotide variantNM_001368894.2(PAX6):c.958+1G>AAniridia 1 [RCV000984442]|Aniridia 1 [RCV003769285]pathogenic113179365131793651Human1name
15173758CV789064single nucleotide variantNM_001368894.2(PAX6):c.808-1G>CAniridia 1 [RCV000984432]|Aniridia 1 [RCV001056174]pathogenic113179380331793803Human1name
15173759CV789065single nucleotide variantNM_001368894.2(PAX6):c.808-1G>AAniridia 1 [RCV000984433]pathogenic113179380331793803Human1name
15173751CV789066single nucleotide variantNM_001368894.2(PAX6):c.725-5T>CAniridia 1 [RCV000984429]likely pathogenic113179411931794119Human1name
15173749CV789067single nucleotide variantNM_001368894.2(PAX6):c.725-9C>GAniridia 1 [RCV000984428]likely pathogenic113179412331794123Human1name
15173734CV789069single nucleotide variantNM_001368894.2(PAX6):c.566-1G>AAniridia 1 [RCV000984421]pathogenic113179478931794789Human1name
15173731CV789070single nucleotide variantNM_001368894.2(PAX6):c.566-2A>GAniridia 1 [RCV000984420]pathogenic113179479031794790Human1name
15173700CV789071single nucleotide variantNM_001368894.2(PAX6):c.400-1G>AAniridia 1 [RCV000984406]pathogenic113180085731800857Human1name
15173699CV789072single nucleotide variantNM_001368894.2(PAX6):c.400-2A>GAniridia 1 [RCV000984405]pathogenic113180085831800858Human1name
15173693CV789073single nucleotide variantNM_001368894.2(PAX6):c.399+5G>AAniridia 1 [RCV000984404]likely pathogenic|uncertain significance113180155631801556Human1name
15173627CV789076single nucleotide variantNM_001368894.2(PAX6):c.184-1G>AAniridia 1 [RCV000984374]pathogenic113180177731801777Human1name
15173631CV789077single nucleotide variantNM_001368894.2(PAX6):c.184-2A>GAniridia 1 [RCV000984376]pathogenic113180177831801778Human1name
15173623CV789078single nucleotide variantNM_001368894.2(PAX6):c.141+4A>TAniridia 1 [RCV000984373]pathogenic113180270031802700Human1name
15173568CV789080single nucleotide variantNM_001368894.2(PAX6):c.-52+1G>AAniridia 1 [RCV000984349]|not provided [RCV001784479]pathogenic113180684831806848Human1name
21073940CV796566single nucleotide variantNM_001368894.2(PAX6):c.807+5C>TAniridia 1 [RCV001858793]|not provided [RCV000994594]likely benign|uncertain significance113179402731794027Human1name
8639683CV98665single nucleotide variantNM_001368894.2(PAX6):c.399+1G>AAniridia 1 [RCV000707094]|Aniridia 1 [RCV000984403]|PAX6-related disorder [RCV004537306]|not provided [RCV000078543]pathogenic113180156031801560Human3name , trait , alternate_id
126910902CV1038057single nucleotide variantNM_001368894.2(PAX6):c.141+55G>Anot provided [RCV001354774]benign|uncertain significance113180264931802649Humanname
150330651CV1172249single nucleotide variantNM_001368894.2(PAX6):c.399+38G>Anot provided [RCV001538202]benign113180152331801523Humanname
150466268CV1218161single nucleotide variantNM_001368894.2(PAX6):c.10+300T>Cnot provided [RCV001614287]benign113180610231806102Humanname
150477829CV1218685single nucleotide variantNM_001368894.2(PAX6):c.10+305C>Tnot provided [RCV001616312]benign113180609731806097Humanname
150446875CV1232167single nucleotide variantNM_001368894.2(PAX6):c.958+33T>Anot provided [RCV001646075]benign113179361931793619Humanname
150479088CV1240612duplicationNM_001368894.2(PAX6):c.11-275dupnot provided [RCV001652487]benign113180310831803109Humanname
150453523CV1260526single nucleotide variantNM_001368894.2(PAX6):c.10+275C>Gnot provided [RCV001681018]benign113180612731806127Humanname
150495630CV1283006single nucleotide variantNM_001368894.2(PAX6):c.11-195G>Anot provided [RCV001717424]benign113180302931803029Humanname
150539207CV1305171single nucleotide variantNM_001368894.2(PAX6):c.-129+1G>Cnot provided [RCV001765951]uncertain significance113181082731810827Humanname
151813015CV1506865single nucleotide variantNM_001368894.2(PAX6):c.1074+1G>CAniridia 1 [RCV001946374]|Aniridia 1 [RCV003336466]pathogenic113179343731793437Human1name
152048505CV1542660single nucleotide variantNM_001368894.2(PAX6):c.725-18A>GAniridia 1 [RCV002106550]likely benign113179413231794132Human1name
152049049CV1600297single nucleotide variantNM_001368894.2(PAX6):c.959-20G>AAniridia 1 [RCV002111017]likely benign113179357331793573Human1name
152056605CV1608173single nucleotide variantNM_001368894.2(PAX6):c.725-19A>CAniridia 1 [RCV002178919]likely benign113179413331794133Human1name
152045411CV1614445single nucleotide variantNM_001368894.2(PAX6):c.807+14G>AAniridia 1 [RCV002079360]likely benign113179401831794018Human1name
152056507CV1639253single nucleotide variantNM_001368894.2(PAX6):c.1226-4C>GAniridia 1 [RCV002178245]likely benign113179002331790023Human1name
152048857CV1656485single nucleotide variantNM_001368894.2(PAX6):c.1074+9G>AAniridia 1 [RCV002109673]likely benign113179342931793429Human1name
152051530CV1662034deletionNM_001368894.2(PAX6):c.724+14delAniridia 1 [RCV002132021]benign113179461631794616Human1name
8557438CV18507single nucleotide variantNM_001368894.2(PAX6):c.1075-2A>GAniridia 1 [RCV000003633]|Aniridia 1 [RCV001238030]|not provided [RCV000414592]pathogenic113179086231790862Human1name
8557452CV18521single nucleotide variantNM_001368894.2(PAX6):c.-129+2T>AAniridia 1 [RCV000003651]|Aniridia 1 [RCV003764525]pathogenic113181082631810826Human1name
156377017CV1878714single nucleotide variantNM_001368894.2(PAX6):c.808-15C>TAniridia 1 [RCV003066820]likely benign113179381731793817Human1name
156268412CV1899244single nucleotide variantNM_001368894.2(PAX6):c.141+19C>TAniridia 1 [RCV003086693]likely benign113180268531802685Human1name
156304687CV1916349single nucleotide variantNM_001368894.2(PAX6):c.400-18T>GAniridia 1 [RCV002599342]likely benign113180087431800874Human1name
156356010CV1930265single nucleotide variantNM_001368894.2(PAX6):c.399+18A>GAniridia 1 [RCV002651283]likely benign113180154331801543Human1name
156024987CV2025643single nucleotide variantNM_001368894.2(PAX6):c.808-13A>GAniridia 1 [RCV002735552]likely benign113179381531793815Human1name
155916218CV2033564single nucleotide variantNM_001368894.2(PAX6):c.958+18T>CAniridia 1 [RCV002750479]likely benign113179363431793634Human1name
156014789CV2046530single nucleotide variantNM_001368894.2(PAX6):c.1074+8C>TAniridia 1 [RCV002795294]likely benign113179343031793430Human1name
155950184CV2046646single nucleotide variantNM_001368894.2(PAX6):c.1075-8C>TAniridia 1 [RCV002775730]likely benign113179086831790868Human1name
156067163CV2054532single nucleotide variantNM_001368894.2(PAX6):c.1074+4A>GAniridia 1 [RCV002797288]uncertain significance113179343431793434Human1name
156140552CV2082297single nucleotide variantNM_001368894.2(PAX6):c.1225+5G>TAniridia 1 [RCV002871967]likely pathogenic113179070531790705Human1name
156226082CV2115363single nucleotide variantNM_001368894.2(PAX6):c.724+16A>GAniridia 1 [RCV002932642]likely benign113179461431794614Human1name
10449830CV215434single nucleotide variantNM_001368894.2(PAX6):c.-129+9G>A11p partial monosomy syndrome [RCV000395452]|Aniridia 1 [RCV000340726]|Aniridia 1 [RCV001521912]|Anophthalmia-microphthalmia syndrome [RCV000395429]|Autosomal dominant keratitis [RCV000401317]|Congenital aniridia [RCV005419887]|Foveal hypoplasia 1 [RCV000305825]|carboxymethyl-dextran-A2-gadolinium-Dlikely pathogenic|benign|likely benign113181081931810819Human9name
156312834CV2161780deletionNM_001368894.2(PAX6):c.808-19delAniridia 1 [RCV003028682]likely benign113179382131793821Human1name
155956768CV2162797single nucleotide variantNM_001368894.2(PAX6):c.958+18T>GAniridia 1 [RCV003015142]likely benign113179363431793634Human1name
155956821CV2162804single nucleotide variantNM_001368894.2(PAX6):c.1074+6T>CAniridia 1 [RCV003015145]|not provided [RCV003326643]uncertain significance113179343231793432Human1name
11548173CV254136single nucleotide variantNM_001368894.2(PAX6):c.808-12C>T11p partial monosomy syndrome [RCV000380248]|Abnormality of refraction [RCV002226702]|Aniridia 1 [RCV000284718]|Aniridia 1 [RCV001512870]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000382578]|Anophthalmia-microphthalmia syndrome [RCV000329038]|Autosomal dominant keratitis [RCV00026benign|uncertain significance113179381431793814Human9name
11636706CV273854single nucleotide variantNM_001368894.2(PAX6):c.1075-3C>GAniridia 1 [RCV000984452]|Aniridia 1 [RCV005222875]|not provided [RCV000273412]pathogenic|likely pathogenic|uncertain significance113179086331790863Human1name
401928833CV2816547single nucleotide variantNM_001368894.2(PAX6):c.11-753G>Anot provided [RCV003390033]benign113180358731803587Humanname
404986308CV2852479single nucleotide variantNM_001368894.2(PAX6):c.724+14T>Anot specified [RCV003489701]likely benign113179461631794616Humanname
402486186CV3093744single nucleotide variantNM_001368894.2(PAX6):c.725-14A>GAniridia 1 [RCV003786945]uncertain significance113179412831794128Human1name
404990854CV3094705single nucleotide variantNM_001368894.2(PAX6):c.808-18G>AAniridia 1 [RCV003792719]likely benign113179382031793820Human1name
405004207CV3095902single nucleotide variantNM_001368894.2(PAX6):c.808-19T>CAniridia 1 [RCV003794052]likely benign113179382131793821Human1name
404985440CV3096756single nucleotide variantNM_001368894.2(PAX6):c.1075-3C>AAniridia 1 [RCV003792145]likely benign113179086331790863Human1name
405057754CV3102428single nucleotide variantNM_001368894.2(PAX6):c.724+20T>CAniridia 1 [RCV003798570]uncertain significance113179461031794610Human1name
405057306CV3108155single nucleotide variantNM_001368894.2(PAX6):c.1226-7C>TAniridia 1 [RCV003808733]likely benign113179002631790026Human1name
405013288CV3114237single nucleotide variantNM_001368894.2(PAX6):c.565+17C>TAniridia 1 [RCV003805091]likely benign113180067431800674Human1name
11601082CV313889single nucleotide variantNM_001368894.2(PAX6):c.-316-8C>G11p partial monosomy syndrome [RCV000348840]|Aniridia 1 [RCV000279122]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314007]|Anophthalmia-microphthalmia syndrome [RCV000336482]|Autosomal dominant keratitis [RCV000301090]|Foveal hypoplasia 1 [RCV000394796]|carboxymethyl-dextran-A2-gbenign|likely benign|uncertain significance113181102331811023Human6name
12849811CV371398single nucleotide variantNM_001368894.2(PAX6):c.1226-2A>Gnot provided [RCV000436289]pathogenic113179002131790021Humanname
597871352CV3866638single nucleotide variantNM_001368894.2(PAX6):c.566-41T>GAniridia 1 [RCV005215784]likely benign113179482931794829Human1name
597922017CV3867238single nucleotide variantNM_001368894.2(PAX6):c.1226-1G>TAniridia 1 [RCV005223664]uncertain significance113179002031790020Human1name
597838310CV3871032single nucleotide variantNM_001368894.2(PAX6):c.141+18G>AAniridia 1 [RCV005210692]likely benign113180268631802686Human1name
597912467CV3879687single nucleotide variantNM_001368894.2(PAX6):c.141+11C>GAniridia 1 [RCV005222088]likely benign113180269331802693Human1name
12900409CV408335deletionNM_001368894.2(PAX6):c.142-52delnot specified [RCV000482347]benign113180196431801964Humanname
13208183CV424510single nucleotide variantNM_001368894.2(PAX6):c.1225+2T>CAniridia 1 [RCV000496058]pathogenic113179070831790708Human1name
13208184CV424513single nucleotide variantNM_001368894.2(PAX6):c.1074+6T>GAniridia 1 [RCV000496059]likely pathogenic113179343231793432Human1name
13208196CV424539single nucleotide variantNM_001368894.2(PAX6):c.184-14C>GAniridia 1 [RCV000496075]likely pathogenic113180179031801790Human1name
13208176CV424550deletionNM_001368894.2(PAX6):c.-128-2delAniridia 1 [RCV000496050]|Aniridia 1 [RCV001851364]pathogenic113180692731806927Human1name
13474234CV444790single nucleotide variantNM_001368894.2(PAX6):c.1225+1G>TInborn genetic diseases [RCV002527590]|not provided [RCV000519590]pathogenic113179070931790709Human1name
13508762CV485940single nucleotide variantNM_001368894.2(PAX6):c.1225+1G>AAniridia 1 [RCV000584805]pathogenic113179070931790709Human1name
14393152CV550342single nucleotide variantNM_001368894.2(PAX6):c.-129+1G>AAniridia 1 [RCV000757884]|PAX6-related disorder [RCV004535691]pathogenic113181082731810827Human1name , trait , alternate_id
14727001CV652188single nucleotide variantNM_001368894.2(PAX6):c.1225+5G>AAniridia 1 [RCV000815884]pathogenic113179070531790705Human1name
15173826CV789057single nucleotide variantNM_001368894.2(PAX6):c.1226-1G>CAniridia 1 [RCV000984464]pathogenic113179002031790020Human1name
15173825CV789058duplicationNM_001368894.2(PAX6):c.1225+4dupAniridia 1 [RCV000984463]uncertain significance113179070531790706Human1name
15173803CV789059single nucleotide variantNM_001368894.2(PAX6):c.1075-1G>AAniridia 1 [RCV000984453]pathogenic113179086131790861Human1name
21072024CV791128single nucleotide variantNM_001368894.2(PAX6):c.1074+3A>GAniridia 1 [RCV000988512]uncertain significance113179343531793435Human1name
21073938CV796565single nucleotide variantNM_001368894.2(PAX6):c.1075-4A>Tnot provided [RCV000994593]uncertain significance113179086431790864Humanname
28880263CV859865single nucleotide variantNM_001368894.2(PAX6):c.1074+1G>Anot provided [RCV001091517]pathogenic113179343731793437Humanname
127247872CV1099864single nucleotide variantNM_001368894.2(PAX6):c.1226-13C>TAniridia 1 [RCV001424821]likely benign113179003231790032Human1name
150424141CV1184517single nucleotide variantNM_001368894.2(PAX6):c.399+255A>Gnot provided [RCV001556276]likely benign113180130631801306Humanname
150424218CV1184518single nucleotide variantNM_001368894.2(PAX6):c.142-149T>Anot provided [RCV001556373]likely benign113180206131802061Humanname
150413399CV1191219single nucleotide variantNM_001368894.2(PAX6):c.566-146T>Anot provided [RCV001567182]likely benign113179493431794934Humanname
150414464CV1191220duplicationNM_001368894.2(PAX6):c.142-142dupnot provided [RCV001567545]likely benign113180205331802054Humanname
150462371CV1206580single nucleotide variantNM_001368894.2(PAX6):c.566-173G>Tnot provided [RCV001586981]likely benign113179496131794961Humanname
150465105CV1217963single nucleotide variantNM_001368894.2(PAX6):c.-52+123T>Cnot provided [RCV001614088]benign113180672631806726Humanname
150472267CV1259265single nucleotide variantNM_001368894.2(PAX6):c.725-234A>Tnot provided [RCV001684511]benign113179434831794348Humanname
150442240CV1266196single nucleotide variantNM_001368894.2(PAX6):c.141+231C>Tnot provided [RCV001690631]benign113180247331802473Humanname
150464997CV1268536single nucleotide variantNM_001368894.2(PAX6):c.142-148A>Tnot provided [RCV001694232]benign113180206031802060Humanname
150459165CV1269760single nucleotide variantNM_001368894.2(PAX6):c.141+318C>Tnot provided [RCV001693300]benign113180238631802386Humanname
150498893CV1270729single nucleotide variantNM_001368894.2(PAX6):c.1225+43T>Gnot provided [RCV001689278]benign113179066731790667Humanname
150442243CV1287693single nucleotide variantNM_001368894.2(PAX6):c.566-161G>Anot provided [RCV001725413]benign113179494931794949Humanname
156086923CV2060594single nucleotide variantNM_001368894.2(PAX6):c.1074+16G>AAniridia 1 [RCV002824044]likely benign113179342231793422Human1name
597857974CV3864736single nucleotide variantNM_001368894.2(PAX6):c.1225+11G>AAniridia 1 [RCV005213792]likely benign113179069931790699Human1name
14393160CV550336single nucleotide variantNM_001368894.2(PAX6):c.399+334G>AAniridia 1 [RCV000757890]uncertain significance113180122731801227Human1name
14393158CV550337single nucleotide variantNM_001368894.2(PAX6):c.399+136G>AAniridia 1 [RCV000757889]uncertain significance113180142531801425Human1name
126909750CV1036910single nucleotide variantNM_001368894.2(PAX6):c.1074+139C>TColoboma, ocular, autosomal dominant [RCV001354047]uncertain significance113179329931793299Human1name
127307148CV1156691single nucleotide variantNM_001368894.2(PAX6):c.1075-275A>CAniridia 1 [RCV001516982]benign113179113531791135Human1name
150465400CV1201069duplicationNM_001368894.2(PAX6):c.1226-242dupnot provided [RCV001587549]likely benign113179026031790261Humanname
150453802CV1205699single nucleotide variantNM_001368894.2(PAX6):c.-129+229G>Cnot provided [RCV001585600]likely benign113181059931810599Humanname
150464308CV1214919single nucleotide variantNM_001368894.2(PAX6):c.-128-204G>Anot provided [RCV001613916]benign113180712931807129Humanname
150497230CV1256671deletionNM_001368894.2(PAX6):c.1226-242delnot provided [RCV001676163]benign113179026131790261Humanname
405282491CV3191040single nucleotide variantNM_001368894.2(PAX6):c.1074+140G>APAX6-related disorder [RCV004539285]uncertain significance113179329831793298Humanname , trait , alternate_id
405271855CV3202970single nucleotide variantNM_001368894.2(PAX6):c.1074+114C>TPAX6-related disorder [RCV004539358]likely benign113179332431793324Humanname , trait , alternate_id
405288093CV3214875single nucleotide variantNM_001368894.2(PAX6):c.1074+138T>CPAX6-related disorder [RCV004532183]likely benign113179330031793300Humanname , trait , alternate_id
617150484CV4018973single nucleotide variantNM_001368894.2(PAX6):c.1074+167G>Anot provided [RCV005423381]uncertain significance113179327131793271Humanname
14727473CV665038single nucleotide variantNM_001368894.2(PAX6):c.1074+107C>Tnot provided [RCV000834330]benign113179333131793331Humanname
14725157CV665691single nucleotide variantNM_001368894.2(PAX6):c.1075-174G>Anot provided [RCV000833309]benign113179103431791034Human4name
151813319CV1454896deletionNM_001368894.2(PAX6):c.399_399+2delAniridia 1 [RCV001946971]pathogenic113180155931801561Humanname
151820767CV1484641deletionNM_001368894.2(PAX6):c.802_807+9delAniridia 1 [RCV001963082]pathogenic113179402331794037Human1name
156100650CV2180033duplicationNM_001368894.2(PAX6):c.-120_-118dupAniridia 1 [RCV003054713]uncertain significance113180691431806915Human1name
11644957CV320174duplicationNM_001368894.2(PAX6):c.-147_-146dup11p partial monosomy syndrome [RCV000262940]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000297718]|Anophthalmia [RCV000333122]|Autosomal dominant keratitis [RCV000368036]|Congenital aniridia [RCV005420109]|Foveal hypoplasia 1 [RCV000311043]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113181084431810845Human8name
408388959CV3529158deletionNM_001368909.2(PAX6):c.-268+3906delnot provided [RCV004773980]uncertain significance113180692231806922Humanname
13208181CV424541deletionNM_001368894.2(PAX6):c.133_141+4delAniridia 1 [RCV000496056]pathogenic113180270031802712Human1name
14393153CV550341deletionNM_001368894.2(PAX6):c.-118_-117delAniridia 1 [RCV000757885]|Aniridia 1 [RCV001855622]pathogenic|likely pathogenic113180691431806915Human1name
15173692CV789074deletionNM_001368894.2(PAX6):c.399_399+5delAniridia 1 [RCV000984402]pathogenic113180155631801561Human1name
15173629CV789075duplicationNM_001368894.2(PAX6):c.184-1_195dupAniridia 1 [RCV000984375]pathogenic113180176431801765Human1name
150412338CV1198199microsatelliteNM_001368894.2(PAX6):c.724+152TG[27]not provided [RCV001574328]likely benign113179442131794424Humanname
150441811CV1233602microsatelliteNM_001368894.2(PAX6):c.724+152TG[17]not provided [RCV001645290]benign113179442131794444Humanname
150500420CV1235919microsatelliteNM_001368894.2(PAX6):c.724+152TG[19]not provided [RCV001656602]benign113179442131794440Humanname
150506385CV1242201microsatelliteNM_001368894.2(PAX6):c.724+152TG[18]not provided [RCV001658555]benign113179442131794442Humanname
150483771CV1263045microsatelliteNM_001368894.2(PAX6):c.724+152TG[21]not provided [RCV001686445]benign113179442131794436Humanname
150496353CV1272869microsatelliteNM_001368894.2(PAX6):c.724+152TG[20]not provided [RCV001688792]benign113179442131794438Humanname
11601573CV320088deletionNM_000280.4(PAX6):c.*3736_*3737delCA11p partial monosomy syndrome [RCV000391691]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000289781]|Anophthalmia [RCV000324796]|Autosomal dominant keratitis [RCV000288752]|Congenital aniridia [RCV005420069]|Foveal hypoplasia 1 [RCV000283615]|Irido-corneo-trabecular dysgenesis [RCV00benign113178619731786198Human8name
11651118CV327204microsatelliteNM_000280.4(PAX6):c.*3700_*3701delGT11p partial monosomy syndrome [RCV000356776]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314581]|Anophthalmia [RCV000406035]|Autosomal dominant keratitis [RCV000297149]|Congenital aniridia [RCV005420070]|Foveal hypoplasia 1 [RCV000349666]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178623331786234Humanname
598126507CV3881956deletionNM_001368894.2(PAX6):c.959-26_976delPAX6-related disorder [RCV005233508]likely pathogenic113179353631793579Humanname , trait , alternate_id
15173727CV789068deletionNM_001368894.2(PAX6):c.566-14_567delAniridia 1 [RCV000984419]pathogenic113179478731794802Human1name
26904092CV852651deletionNM_001368894.2(PAX6):c.10+1635_70delAniridia 1 [RCV001036374]likely pathogenic113180277531804767Human1name
152055868CV1536393duplicationNM_001368894.2(PAX6):c.11-24_11-20dupAniridia 1 [RCV002171365]likely benign113180285331802854Human1name
156282340CV2051359microsatelliteNM_001368894.2(PAX6):c.724+8_724+9delAniridia 1 [RCV002832884]uncertain significance113179462131794622Humanname
156394864CV2181927deletionNM_001368894.2(PAX6):c.787_807+102delAniridia 1 [RCV003051754]pathogenic113179393031794052Human1name
405153526CV3111160deletionNM_001368894.2(PAX6):c.959-3_959-2delAniridia 1 [RCV003801616]likely pathogenic113179355531793556Human1name
11648174CV313870deletionNM_000280.4(PAX6):c.*2705_*2707delAGC11p partial monosomy syndrome [RCV000280659]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000338068]|Anophthalmia [RCV000372839]|Autosomal dominant keratitis [RCV000402077]|Congenital aniridia [RCV005420078]|Foveal hypoplasia 1 [RCV000341992]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178722731787229Human8name
405282012CV3224617deletionNM_001368894.2(PAX6):c.1211_1225+1delAniridia 1 [RCV003988952]uncertain significance113179070931790724Human1name
14393154CV550340deletionNM_001368894.2(PAX6):c.-52+3_-52+4delAniridia 1 [RCV000757886]pathogenic113180684531806846Human1name
15173567CV789081deletionNM_001368894.2(PAX6):c.-138_-129+3delAniridia 1 [RCV000984348]pathogenic113181082531810837Human1name
11600002CV320089insertionNM_000280.4(PAX6):c.*3246_*3247insTTTT11p partial monosomy syndrome [RCV000359957]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000392047]|Anophthalmia [RCV000392032]|Autosomal dominant keratitis [RCV000358681]|Congenital aniridia [RCV005420071]|Foveal hypoplasia 1 [RCV000299243]|Irido-corneo-trabecular dysgenesis [RCV00benign113178668731786688Human8name
11614798CV327217duplicationNM_000280.4(PAX6):c.*2893_*2896dupATTT11p partial monosomy syndrome [RCV000401427]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000387389]|Anophthalmia [RCV000352420]|Autosomal dominant keratitis [RCV000295258]|Congenital aniridia [RCV005420076]|Foveal hypoplasia 1 [RCV000279797]|Irido-corneo-trabecular dysgenesis [RCV00benign113178703731787038Human8name
15134029CV787757microsatelliteNM_001368894.2(PAX6):c.400-15_400-5delAniridia 1 [RCV000981653]|PAX6-related disorder [RCV004543659]|not provided [RCV001572839]|not specified [RCV001726404]benign|likely benign113180086131800871Humanname , trait , alternate_id
15173573CV789056deletionNM_001368894.2(PAX6):c.4del (p.Gln2fs)Aniridia 1 [RCV000984350]pathogenic113180640831806408Human1name
152049955CV1532424deletionNM_001368894.2(PAX6):c.399+10_399+11delAniridia 1 [RCV002118460]likely benign113180155031801551Human1name
152031666CV1670550microsatelliteNM_001368894.2(PAX6):c.1074+3_1074+6delAniridia 1 [RCV003089205]|not provided [RCV002226070]likely pathogenic|uncertain significance113179343231793435Humanname
153000670CV1684229single nucleotide variantNM_000280.6(PAX6):c.143T>C (p.Val48Ala)not provided [RCV002255210]pathogenic|likely pathogenic113180177531801775Humanname
156309314CV1878049single nucleotide variantNM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)Aniridia 1 [RCV003062356]pathogenic113180640831806408Human1name
405032298CV3098645single nucleotide variantNM_001368894.2(PAX6):c.42C>T (p.Val14=)Aniridia 1 [RCV003806769]likely benign113180280331802803Human1name
405033991CV3105861single nucleotide variantNM_001368894.2(PAX6):c.33C>T (p.Leu11=)Aniridia 1 [RCV003796712]likely benign113180281231802812Human1name
597906621CV3870189single nucleotide variantNM_001368894.2(PAX6):c.2T>G (p.Met1Arg)Aniridia 1 [RCV005221240]pathogenic113180641031806410Human1name
597862474CV3875225single nucleotide variantNM_001368894.2(PAX6):c.72C>T (p.Ser24=)Aniridia 1 [RCV005214402]likely benign113180277331802773Human1name
13208151CV424547single nucleotide variantNM_001368894.2(PAX6):c.1A>G (p.Met1Val)Aniridia 1 [RCV000496024]|Irido-corneo-trabecular dysgenesis [RCV003488635]pathogenic113180641131806411Human2name
13208185CV424548single nucleotide variantNM_001368894.2(PAX6):c.1A>C (p.Met1Leu)Aniridia 1 [RCV000496060]|Aniridia 1 [RCV000635401]pathogenic113180641131806411Human1name
13467916CV461848single nucleotide variantNM_001368894.2(PAX6):c.3G>A (p.Met1Ile)Aniridia 1 [RCV000544207]pathogenic113180640931806409Human1name
13508776CV485946single nucleotide variantNM_001368894.2(PAX6):c.3G>T (p.Met1Ile)Aniridia 1 [RCV000584820]pathogenic113180640931806409Human1name
28906587CV867858single nucleotide variantNM_001368894.2(PAX6):c.81G>A (p.Gln27=)Anophthalmia-microphthalmia syndrome [RCV001106747]|Autosomal dominant keratitis [RCV001106748]|Foveal hypoplasia 1 [RCV001106745]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106746]uncertain significance113180276431802764Human4name
38598110CV963159deletionNM_001368894.2(PAX6):c.11-218_565+80delAniridia 1 [RCV001251139]pathogenic113180061131803052Human1name
127334248CV1121355single nucleotide variantNM_001368894.2(PAX6):c.117G>C (p.Pro39=)Aniridia 1 [RCV001473466]|not provided [RCV001655729]pathogenic|likely benign113180272831802728Human1name
127328369CV1142223single nucleotide variantNM_001368894.2(PAX6):c.276A>G (p.Val92=)Aniridia 1 [RCV001486745]likely benign113180168431801684Human1name
150420406CV1180823deletionNM_001368894.2(PAX6):c.54del (p.Arg19fs)not provided [RCV001551529]pathogenic113180279131802791Humanname
151803528CV1483900single nucleotide variantNM_001368894.2(PAX6):c.20G>T (p.Gly7Val)Aniridia 1 [RCV001927909]uncertain significance113180282531802825Human1name
152053878CV1550738single nucleotide variantNM_001368894.2(PAX6):c.243A>G (p.Arg81=)Aniridia 1 [RCV002152678]benign113180171731801717Human1name
152050232CV1618726single nucleotide variantNM_001368894.2(PAX6):c.117G>T (p.Pro39=)Aniridia 1 [RCV002121291]likely benign113180272831802728Human1name
156147950CV1932356single nucleotide variantNM_001368894.2(PAX6):c.225C>T (p.Tyr75=)Aniridia 1 [RCV002623900]likely benign113180173531801735Human1name
156237484CV1999652single nucleotide variantNM_001368894.2(PAX6):c.279G>A (p.Ala93=)Aniridia 1 [RCV002667809]likely benign113180168131801681Human1name
156042198CV2089702duplicationNM_001368894.2(PAX6):c.27dup (p.Gln10fs)Aniridia 1 [RCV002867485]pathogenic113180281731802818Human1name
402504851CV3088775single nucleotide variantNM_001368894.2(PAX6):c.270G>A (p.Pro90=)Aniridia 1 [RCV003779484]likely benign113180169031801690Human1name
405023977CV3097644single nucleotide variantNM_001368894.2(PAX6):c.255C>T (p.Ile85=)Aniridia 1 [RCV003806105]likely benign113180170531801705Human1name
405032285CV3098644deletionNM_001368894.2(PAX6):c.47del (p.Val16fs)Aniridia 1 [RCV003806768]pathogenic113180279831802798Human1name
405153085CV3101980single nucleotide variantNM_001368894.2(PAX6):c.237C>T (p.Ser79=)Aniridia 1 [RCV003801584]likely benign113180172331801723Human1name
405774599CV3374820single nucleotide variantNM_001368894.2(PAX6):c.18C>A (p.Ser6Arg)Inborn genetic diseases [RCV004502879]uncertain significance113180282731802827Human1name
407479849CV3466702single nucleotide variantNM_001368894.2(PAX6):c.13C>T (p.His5Tyr)Inborn genetic diseases [RCV004664234]uncertain significance113180283231802832Human1name
597893715CV3868206single nucleotide variantNM_001368894.2(PAX6):c.211C>T (p.Leu71=)Aniridia 1 [RCV005219235]likely benign113180174931801749Human1name
598223668CV3892118insertionNM_001368894.2(PAX6):c.141+35_141+36insTAniridia 1 [RCV005253458]likely pathogenic113180266831802669Human1name
617150152CV4019148single nucleotide variantNM_001368894.2(PAX6):c.19G>A (p.Gly7Arg)not provided [RCV005423556]uncertain significance113180282631802826Humanname
12895250CV408334single nucleotide variantNM_001368894.2(PAX6):c.297C>T (p.Ser99=)Aniridia 1 [RCV000984389]|Aniridia 1 [RCV005222953]|not provided [RCV000485756]likely pathogenic|uncertain significance113180166331801663Human1name
13208156CV424545deletionNM_001368894.2(PAX6):c.78del (p.Gln27fs)Aniridia 1 [RCV000496029]|Aniridia 1 [RCV000804957]pathogenic113180276731802767Human1name
13208139CV424546single nucleotide variantNM_001368894.2(PAX6):c.19G>C (p.Gly7Arg)Aniridia 1 [RCV000496005]likely pathogenic113180282631802826Human1name
14726881CV639957deletionNM_001368894.2(PAX6):c.35del (p.Gly12fs)Aniridia 1 [RCV000815829]pathogenic113180281031802810Human1name
15173646CV789032single nucleotide variantNM_001368894.2(PAX6):c.216C>T (p.Gly72=)Aniridia 1 [RCV000984382]|not provided [RCV002225771]pathogenic|likely pathogenic113180174431801744Human1name
15173589CV789051deletionNM_001368894.2(PAX6):c.62del (p.Leu21fs)Aniridia 1 [RCV000984357]pathogenic113180278331802783Human1name
15173576CV789055single nucleotide variantNM_001368894.2(PAX6):c.19G>T (p.Gly7Ter)Aniridia 1 [RCV000984352]pathogenic113180282631802826Human1name
8626972CV82116single nucleotide variantNM_000280.4(PAX6):c.541G>A (p.Glu181Lys)Malignant melanoma [RCV000062195]not provided113179477131794771Humanname
28904469CV867857single nucleotide variantNM_001368894.2(PAX6):c.219G>A (p.Arg73=)Anophthalmia-microphthalmia syndrome [RCV001105594]|Autosomal dominant keratitis [RCV001105595]|Foveal hypoplasia 1 [RCV001105596]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105597]uncertain significance113180174131801741Human4name
8639682CV98664single nucleotide variantNM_001368894.2(PAX6):c.130C>A (p.Arg44=)Aniridia 1 [RCV000877068]|PAX6-related disorder [RCV004537305]|not provided [RCV001727559]|not specified [RCV000078542]benign|likely benign113180271531802715Human3name , trait , alternate_id
8639684CV98666deletionNM_001368894.2(PAX6):c.46del (p.Val16fs)not provided [RCV000178745]pathogenic113180279931802799Humanname
126739312CV1017445deletionNM_001368894.2(PAX6):c.*21del (p.Ter437=)Aniridia 1 [RCV005369933]|not provided [RCV001695032]|not specified [RCV002246456]pathogenic|benign|likely benign113178991331789913Human1name
127267469CV1062320single nucleotide variantNM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)Aniridia 1 [RCV001388985]pathogenic113180279331802793Human1name
127230660CV1078183single nucleotide variantNM_001368894.2(PAX6):c.699A>G (p.Gln233=)Aniridia 1 [RCV001412595]likely benign113179465531794655Human1name
127238323CV1099865single nucleotide variantNM_001368894.2(PAX6):c.501C>T (p.Thr167=)Aniridia 1 [RCV001422872]|not provided [RCV003394044]likely benign113180075531800755Human1name
127319462CV1142222single nucleotide variantNM_001368894.2(PAX6):c.717G>A (p.Leu239=)Aniridia 1 [RCV001483894]likely benign113179463731794637Human1name
127316253CV1156692single nucleotide variantNM_001368894.2(PAX6):c.978C>T (p.Gly326=)Aniridia 1 [RCV001520411]benign113179353431793534Human1name
150448150CV1253511duplicationNM_001368894.2(PAX6):c.*21dup (p.Ter437=)Coloboma of optic nerve [RCV003451838]|not provided [RCV001667439]benign113178991231789913Human2name
150488400CV1274197single nucleotide variantNM_001368894.2(PAX6):c.435T>C (p.Ala145=)not provided [RCV001726619]|not specified [RCV001699845]benign|likely benign113180082131800821Humanname
150549536CV1299510single nucleotide variantNM_001368894.2(PAX6):c.55C>T (p.Arg19Trp)not provided [RCV001752436]uncertain significance113180279031802790Humanname
151711027CV1451640single nucleotide variantNM_001368894.2(PAX6):c.957G>A (p.Pro319=)Aniridia 1 [RCV002000490]benign|uncertain significance113179365331793653Human1name
151800348CV1496575single nucleotide variantNM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)Aniridia 1 [RCV001922007]|not provided [RCV003134187]uncertain significance113180278931802789Human1name
152046406CV1553489single nucleotide variantNM_001368894.2(PAX6):c.981C>T (p.Ser327=)Aniridia 1 [RCV002087992]likely benign113179353131793531Human1name
152048727CV1561355single nucleotide variantNM_001368894.2(PAX6):c.525T>A (p.Gly175=)Aniridia 1 [RCV002108346]likely benign113180073131800731Human1name
152059561CV1568846single nucleotide variantNM_001368894.2(PAX6):c.349C>A (p.Arg117=)Aniridia 1 [RCV002203486]likely benign113180161131801611Human1name
152047826CV1576374single nucleotide variantNM_001368894.2(PAX6):c.318G>A (p.Arg106=)Aniridia 1 [RCV002101218]likely benign113180164231801642Human1name
152047836CV1576491single nucleotide variantNM_001368894.2(PAX6):c.405A>G (p.Ser135=)Aniridia 1 [RCV002101274]likely benign113180085131800851Human1name
152061436CV1590348single nucleotide variantNM_001368894.2(PAX6):c.462C>T (p.Asp154=)Aniridia 1 [RCV002218476]|not provided [RCV003130686]likely benign|uncertain significance113180079431800794Human1name
152044449CV1603298single nucleotide variantNM_001368894.2(PAX6):c.306C>G (p.Ala102=)Aniridia 1 [RCV002071122]likely benign113180165431801654Human1name
152047315CV1605864single nucleotide variantNM_001368894.2(PAX6):c.456C>T (p.Gly152=)Aniridia 1 [RCV002095663]likely benign113180080031800800Human1name
152045302CV1618337single nucleotide variantNM_001368894.2(PAX6):c.768A>G (p.Arg256=)Aniridia 1 [RCV002078176]likely benign113179407131794071Human1name
152056719CV1657936single nucleotide variantNM_001368894.2(PAX6):c.658C>T (p.Leu220=)Aniridia 1 [RCV002179922]likely benign113179469631794696Human1name
152045541CV1659483single nucleotide variantNM_001368894.2(PAX6):c.561G>A (p.Thr187=)Aniridia 1 [RCV002080586]likely benign113180069531800695Human1name
155645875CV1709231single nucleotide variantNM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)Aniridia 1 [RCV003097807]|Aniridia 1 [RCV004719252]|not provided [RCV002292107]pathogenic|likely pathogenic|uncertain significance113180275931802759Human1name
8557433CV18502single nucleotide variantNM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE [RCV000003627]|Aniridia 1 [RCV000003628]|Coloboma, ocular, autosomal dominant [RCV003883463]pathogenic|likely pathogenic113180276931802769Human3name
156217269CV1869428single nucleotide variantNM_001368894.2(PAX6):c.621C>T (p.Asn207=)Aniridia 1 [RCV003058778]likely benign113179473331794733Human1name
156204918CV1878047single nucleotide variantNM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)Aniridia 1 [RCV003058300]likely pathogenic113180279331802793Human1name
156408275CV1911540single nucleotide variantNM_001368894.2(PAX6):c.918C>T (p.Ser306=)Aniridia 1 [RCV002607177]likely benign113179369231793692Human1name
156418976CV1915169single nucleotide variantNM_001368894.2(PAX6):c.88G>A (p.Val30Ile)Aniridia 1 [RCV002612188]uncertain significance113180275731802757Human1name
156317754CV1920802single nucleotide variantNM_001368894.2(PAX6):c.534G>A (p.Pro178=)Aniridia 1 [RCV002600049]likely benign113180072231800722Human1name
156409082CV1922176single nucleotide variantNM_001368894.2(PAX6):c.960T>C (p.Val320=)Aniridia 1 [RCV002607450]likely benign113179355231793552Human1name
156155560CV1926172single nucleotide variantNM_001368894.2(PAX6):c.741T>C (p.His247=)Aniridia 1 [RCV002624167]likely benign113179409831794098Human1name
156385217CV1961181single nucleotide variantNM_001368894.2(PAX6):c.651A>G (p.Arg217=)Aniridia 1 [RCV002583438]likely benign113179470331794703Human1name
156411400CV1976276single nucleotide variantNM_001368894.2(PAX6):c.555A>G (p.Gln185=)Aniridia 1 [RCV002587478]likely benign113180070131800701Human1name
156106007CV1992264single nucleotide variantNM_001368894.2(PAX6):c.882C>T (p.Asn294=)Aniridia 1 [RCV002622388]likely benign113179372831793728Human1name
156243537CV2053222single nucleotide variantNM_001368894.2(PAX6):c.762A>G (p.Arg254=)Aniridia 1 [RCV002791439]likely benign113179407731794077Human1name
156348740CV2061978single nucleotide variantNM_001368894.2(PAX6):c.81G>C (p.Gln27His)Aniridia 1 [RCV002811622]uncertain significance113180276431802764Human1name
156138984CV2082210single nucleotide variantNM_001368894.2(PAX6):c.951C>T (p.Thr317=)Aniridia 1 [RCV002871914]likely benign113179365931793659Human1name
155998255CV2122710single nucleotide variantNM_001368894.2(PAX6):c.798A>G (p.Ala266=)Aniridia 1 [RCV002975056]likely benign113179404131794041Human1name
156386115CV2125532single nucleotide variantNM_001368894.2(PAX6):c.339T>C (p.Ala113=)Aniridia 1 [RCV002943497]likely benign113180162131801621Human1name
156384525CV2128320single nucleotide variantNM_001368894.2(PAX6):c.492C>T (p.Asn164=)Aniridia 1 [RCV002943389]likely benign113180076431800764Human1name
155910420CV2156973single nucleotide variantNM_001368894.2(PAX6):c.993A>G (p.Arg331=)Aniridia 1 [RCV003012211]likely benign113179351931793519Human1name
155940091CV2157928deletionNM_001368894.2(PAX6):c.117del (p.Cys40fs)Aniridia 1 [RCV003014206]pathogenic113180272831802728Human1name
156187696CV2160562deletionNM_001368894.2(PAX6):c.114del (p.Pro39fs)Aniridia 1 [RCV003024031]pathogenic113180273131802731Human1name
156003419CV2179255single nucleotide variantNM_001368894.2(PAX6):c.807G>A (p.Gln269=)Aniridia 1 [RCV003034880]likely pathogenic113179403231794032Human1name
11633185CV274086single nucleotide variantNM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)Aniridia 1 [RCV000635404]|PAX6-related disorder [RCV003401272]|not provided [RCV000317485]pathogenic|likely pathogenic113180279331802793Human3name , trait , alternate_id
405024081CV3082000single nucleotide variantNM_001368894.2(PAX6):c.591G>A (p.Gly197=)Aniridia 1 [RCV003785606]|PAX6-related disorder [RCV004539120]likely benign113179476331794763Human3name , trait , alternate_id
402493134CV3091134single nucleotide variantNM_001368894.2(PAX6):c.399C>T (p.Ser133=)Aniridia 1 [RCV003787639]uncertain significance113180156131801561Human1name
402521467CV3092016single nucleotide variantNM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)Aniridia 1 [RCV003790462]uncertain significance113180278731802787Human1name
405032915CV3098692single nucleotide variantNM_001368894.2(PAX6):c.735A>G (p.Arg245=)Aniridia 1 [RCV003806817]likely benign113179410431794104Human1name
405162725CV3109991deletionNM_001368894.2(PAX6):c.102del (p.His34fs)Aniridia 1 [RCV003802350]pathogenic113180274331802743Human1name
11599328CV313886single nucleotide variantNM_001368894.2(PAX6):c.369G>A (p.Glu123=)11p partial monosomy syndrome [RCV000279921]|Aniridia 1 [RCV000281025]|Aniridia 1 [RCV000525722]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000379317]|Anophthalmia-microphthalmia syndrome [RCV000324755]|Autosomal dominant keratitis [RCV000316268]|Foveal hypoplasia 1 [RCV000264876]|benign|likely benign113180159131801591Human8name
405261601CV3184746single nucleotide variantNM_001368894.2(PAX6):c.77G>A (p.Arg26Gln)Aniridia 1 [RCV004560325]|Coloboma, ocular, autosomal dominant [RCV003883478]pathogenic|likely pathogenic113180276831802768Human2name
11601867CV320166single nucleotide variantNM_001368894.2(PAX6):c.753G>A (p.Val251=)11p partial monosomy syndrome [RCV000398566]|Aniridia 1 [RCV000337620]|Aniridia 1 [RCV001514487]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000285944]|Anophthalmia-microphthalmia syndrome [RCV000310966]|Autosomal dominant keratitis [RCV000301339]|Foveal hypoplasia 1 [RCV000336368]|benign|likely benign|uncertain significance113179408631794086Human8name
11612851CV327276single nucleotide variantNM_001368894.2(PAX6):c.873G>A (p.Gln291=)11p partial monosomy syndrome [RCV000299533]|Aniridia 1 [RCV000333506]|Aniridia 1 [RCV000865074]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263284]|Anophthalmia-microphthalmia syndrome [RCV000353328]|Autosomal dominant keratitis [RCV000368216]|Foveal hypoplasia 1 [RCV000298558]|benign|likely benign|uncertain significance113179373731793737Human8name
407427925CV3412223single nucleotide variantNM_001368894.2(PAX6):c.38G>A (p.Gly13Asp)Aniridia 1 [RCV005220961]|not provided [RCV004592394]uncertain significance113180280731802807Human1name
407574648CV3499659single nucleotide variantNM_001368894.2(PAX6):c.97G>C (p.Ala33Pro)not provided [RCV004720152]uncertain significance113180274831802748Humanname
12742159CV360006duplicationNM_001368894.2(PAX6):c.109dup (p.Ala37fs)Aniridia 1 [RCV000496062]|not provided [RCV000413008]pathogenic113180273531802736Human1name
12742746CV360034deletionNM_001368894.2(PAX6):c.109del (p.Ala37fs)Aniridia 1 [RCV001215069]|not provided [RCV000414410]pathogenic113180273631802736Human1name
597859438CV3864920single nucleotide variantNM_001368894.2(PAX6):c.411A>T (p.Ile137=)Aniridia 1 [RCV005213977]likely benign113180084531800845Human1name
597870220CV3866265single nucleotide variantNM_001368894.2(PAX6):c.357A>G (p.Arg119=)Aniridia 1 [RCV005215606]likely benign113180160331801603Human1name
597853507CV3869824single nucleotide variantNM_001368894.2(PAX6):c.53G>A (p.Gly18Glu)Aniridia 1 [RCV005213109]uncertain significance113180279231802792Human1name
597871083CV3870009single nucleotide variantNM_001368894.2(PAX6):c.65C>G (p.Pro22Arg)Aniridia 1 [RCV005215739]uncertain significance113180278031802780Human1name
597849407CV3876841single nucleotide variantNM_001368894.2(PAX6):c.56G>A (p.Arg19Gln)Aniridia 1 [RCV005228068]uncertain significance113180278931802789Human1name
597924618CV3877339single nucleotide variantNM_001368894.2(PAX6):c.990C>A (p.Gly330=)Aniridia 1 [RCV005224035]likely benign113179352231793522Human1name
597839826CV3877582single nucleotide variantNM_001368894.2(PAX6):c.495G>T (p.Gly165=)Aniridia 1 [RCV005226236]likely benign113180076131800761Human1name
597841829CV3878151single nucleotide variantNM_001368894.2(PAX6):c.366C>G (p.Ser122=)Aniridia 1 [RCV005226638]likely benign113180159431801594Human1name
597843321CV3878446single nucleotide variantNM_001368894.2(PAX6):c.831C>T (p.Ala277=)Aniridia 1 [RCV005226936]likely benign113179377931793779Human1name
13493304CV461520single nucleotide variantNM_001368894.2(PAX6):c.714C>T (p.Ala238=)Aniridia 1 [RCV000558087]likely benign113179464031794640Human1name
13525426CV504225single nucleotide variantNM_001368894.2(PAX6):c.465C>G (p.Gly155=)Aniridia 1 [RCV002063099]|not provided [RCV000877253]|not specified [RCV000603152]likely benign|conflicting interpretations of pathogenicity|uncertain significance113180079131800791Human1name
13809833CV567201duplicationNM_001368894.2(PAX6):c.114dup (p.Pro39fs)Aniridia 1 [RCV000687949]|Aniridia 1 [RCV000984367]pathogenic113180273031802731Human1name
13808901CV567205single nucleotide variantNM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)Aniridia 1 [RCV000701816]|Aniridia 1 [RCV000984353]pathogenic|uncertain significance113180281131802811Human1name
14396746CV612908single nucleotide variantNM_001368894.2(PAX6):c.985T>C (p.Leu329=)Aniridia 1 [RCV002061032]|Anophthalmia-microphthalmia syndrome [RCV001103483]|Autosomal dominant keratitis [RCV001103482]|Foveal hypoplasia 1 [RCV001103480]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103481]|not provided [RCV000761769]likely benign|uncertain significance113179352731793527Human7name
14703575CV639955deletionNM_001368894.2(PAX6):c.112del (p.Arg38fs)Aniridia 1 [RCV000807435]|Aniridia 1 [RCV000984364]|not provided [RCV004773172]pathogenic113180273331802733Human1name
15174441CV701734single nucleotide variantNM_001368894.2(PAX6):c.537G>C (p.Gly179=)Aniridia 1 [RCV002066261]|PAX6-related disorder [RCV004533644]|not provided [RCV000950347]likely benign113180071931800719Human3name , trait , alternate_id
15123350CV737940single nucleotide variantNM_001368894.2(PAX6):c.561G>T (p.Thr187=)not provided [RCV000896396]likely benign113180069531800695Humanname
15146635CV752646single nucleotide variantNM_001368894.2(PAX6):c.702G>A (p.Glu234=)Aniridia 1 [RCV001448810]likely benign113179465231794652Human1name
15133706CV752647single nucleotide variantNM_001368894.2(PAX6):c.438C>T (p.Ser146=)Aniridia 1 [RCV000920563]likely benign113180081831800818Human1name
15173747CV789001single nucleotide variantNM_001368894.2(PAX6):c.723A>G (p.Lys241=)Aniridia 1 [RCV000984427]likely pathogenic113179463131794631Human1name
15173684CV789017single nucleotide variantNM_001368894.2(PAX6):c.375C>A (p.Val125=)Aniridia 1 [RCV000984399]likely pathogenic113180158531801585Human1name
15173658CV789027duplicationNM_001368894.2(PAX6):c.288dup (p.Val97fs)Aniridia 1 [RCV000984388]pathogenic113180167131801672Human1name
15173652CV789030duplicationNM_001368894.2(PAX6):c.246dup (p.Arg83fs)Aniridia 1 [RCV000984385]pathogenic113180171331801714Human1name
15173642CV789034deletionNM_001368894.2(PAX6):c.208del (p.Ile70fs)Aniridia 1 [RCV000984380]pathogenic113180175231801752Human1name
15173614CV789042deletionNM_001368894.2(PAX6):c.121del (p.Asp41fs)Aniridia 1 [RCV000984369]pathogenic113180272431802724Human1name
15173595CV789048single nucleotide variantNM_001368894.2(PAX6):c.94C>G (p.Leu32Val)Aniridia 1 [RCV000984360]likely pathogenic113180275131802751Human1name
15173594CV789049single nucleotide variantNM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)Aniridia 1 [RCV000984359]|Aniridia 1 [RCV002550582]|Irido-corneo-trabecular dysgenesis [RCV003489985]pathogenic|likely pathogenic113180276931802769Human2name
15173588CV789053single nucleotide variantNM_001368894.2(PAX6):c.53G>C (p.Gly18Ala)Aniridia 1 [RCV000984356]likely pathogenic113180279231802792Human1name
15173583CV789054single nucleotide variantNM_001368894.2(PAX6):c.51C>G (p.Asn17Lys)Aniridia 1 [RCV000984355]likely pathogenic113180279431802794Human1name
26899395CV838296single nucleotide variantNM_001368894.2(PAX6):c.95T>G (p.Leu32Arg)Aniridia 1 [RCV001070950]uncertain significance113180275031802750Human1name
26921976CV838297single nucleotide variantNM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)Aniridia 1 [RCV001061481]uncertain significance113180278031802780Human1name
28904021CV867849single nucleotide variantNM_001368894.2(PAX6):c.972A>T (p.Thr324=)11p partial monosomy syndrome [RCV001105398]|Aniridia 1 [RCV003769094]|Anophthalmia-microphthalmia syndrome [RCV001105397]|Autosomal dominant keratitis [RCV001105400]|Foveal hypoplasia 1 [RCV001105401]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105399]likely benign|uncertain significance113179354031793540Human8name
28904034CV867850single nucleotide variantNM_001368894.2(PAX6):c.909T>C (p.Ser303=)11p partial monosomy syndrome [RCV001105403]|Aniridia 1 [RCV001106541]|Aniridia 1 [RCV002067781]|Anophthalmia-microphthalmia syndrome [RCV001105404]|Autosomal dominant keratitis [RCV001105402]|Foveal hypoplasia 1 [RCV001106540]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106542]benign|uncertain significance113179370131793701Human8name
28906256CV867851single nucleotide variantNM_001368894.2(PAX6):c.885A>G (p.Thr295=)Anophthalmia-microphthalmia syndrome [RCV001106543]|Autosomal dominant keratitis [RCV001106545]|Foveal hypoplasia 1 [RCV001106544]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106546]uncertain significance113179372531793725Human4name
28904226CV867852single nucleotide variantNM_001368894.2(PAX6):c.690C>T (p.Ser230=)Anophthalmia-microphthalmia syndrome [RCV001105489]|Autosomal dominant keratitis [RCV001105487]|Foveal hypoplasia 1 [RCV001105486]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105488]uncertain significance113179466431794664Human4name
38490817CV956464single nucleotide variantNM_001368894.2(PAX6):c.28C>T (p.Gln10Ter)Aniridia 1 [RCV001239061]pathogenic113180281731802817Human1name
40903719CV976013single nucleotide variantNM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)Irido-corneo-trabecular dysgenesis [RCV001269464]pathogenic113180280731802807Human1name
126771402CV1009637single nucleotide variantNM_001368894.2(PAX6):c.275T>A (p.Val92Glu)Aniridia 1 [RCV001323142]|PAX6-related disorder [RCV005232267]pathogenic|uncertain significance113180168531801685Human3name , trait , alternate_id
127265914CV1062317deletionNM_001368894.2(PAX6):c.720del (p.Glu242fs)Aniridia 1 [RCV001388581]pathogenic113179463431794634Human1name
127237038CV1062318deletionNM_001368894.2(PAX6):c.483del (p.Met162fs)Aniridia 1 [RCV001382739]pathogenic113180077331800773Human1name
127264269CV1099863single nucleotide variantNM_001368894.2(PAX6):c.1242T>G (p.Gly414=)Aniridia 1 [RCV001439590]likely benign113179000331790003Human1name
127308560CV1142221single nucleotide variantNM_001368894.2(PAX6):c.1101A>G (p.Ser367=)Aniridia 1 [RCV001500814]likely benign113179083431790834Human1name
150410456CV1177447deletionNM_001368894.2(PAX6):c.961del (p.Ser321fs)not provided [RCV001546652]pathogenic113179355131793551Humanname
150412231CV1198198single nucleotide variantNM_001368894.2(PAX6):c.1308G>A (p.Gln436=)not provided [RCV001574298]|not specified [RCV001796913]benign|likely benign113178993731789937Humanname
155644122CV1265736single nucleotide variantNM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn)not provided [RCV002292444]likely pathogenic113180174031801740Humanname
151232845CV1319097deletionNM_001368894.2(PAX6):c.956del (p.Pro319fs)Aniridia 1 [RCV001795880]pathogenic113179365431793654Human1name
151756597CV1335625single nucleotide variantNM_001368894.2(PAX6):c.161T>G (p.Val54Gly)not provided [RCV001847467]uncertain significance113180189331801893Humanname
151722818CV1343330single nucleotide variantNM_001368894.2(PAX6):c.290T>C (p.Val97Ala)Aniridia 1 [RCV002043644]uncertain significance113180167031801670Human1name
151818699CV1406181deletionNM_001368894.2(PAX6):c.417del (p.Val140fs)Aniridia 1 [RCV001958818]pathogenic113180083931800839Human1name
151720776CV1431901single nucleotide variantNM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter)Aniridia 1 [RCV002037739]pathogenic113180173531801735Human1name
151710835CV1439027deletionNM_001368894.2(PAX6):c.690del (p.Phe231fs)Aniridia 1 [RCV001999724]pathogenic113179466431794664Human1name
151775754CV1440317deletionNM_001368894.2(PAX6):c.829del (p.Ala277fs)Aniridia 1 [RCV001874944]pathogenic113179378131793781Human1name
151822191CV1462055single nucleotide variantNM_001368894.2(PAX6):c.269C>T (p.Pro90Leu)Aniridia 1 [RCV001966495]likely pathogenic113180169131801691Human1name
151717487CV1468892single nucleotide variantNM_001368894.2(PAX6):c.141G>T (p.Gln47His)Aniridia 1 [RCV002026301]|Aniridia 1 [RCV002471220]pathogenic|likely pathogenic|uncertain significance113180270431802704Human1name
151790935CV1480469single nucleotide variantNM_001368894.2(PAX6):c.249G>T (p.Arg83Ser)Aniridia 1 [RCV001903869]uncertain significance113180171131801711Human1name
151827612CV1504929single nucleotide variantNM_001368894.2(PAX6):c.269C>A (p.Pro90Gln)Aniridia 1 [RCV001976953]likely pathogenic113180169131801691Human1name
152047471CV1535156single nucleotide variantNM_001368894.2(PAX6):c.1068T>G (p.Pro356=)Aniridia 1 [RCV002097620]likely benign113179344431793444Human1name
152045515CV1539291single nucleotide variantNM_001368894.2(PAX6):c.1164C>T (p.Pro388=)Aniridia 1 [RCV002080437]likely benign113179077131790771Human1name
152052438CV1564272single nucleotide variantNM_001368894.2(PAX6):c.1230C>A (p.Leu410=)Aniridia 1 [RCV002140407]likely benign113179001531790015Human1name
152047349CV1577895single nucleotide variantNM_001368894.2(PAX6):c.1131G>A (p.Ser377=)Aniridia 1 [RCV002096366]likely benign113179080431790804Human1name
152060405CV1591473single nucleotide variantNM_001368894.2(PAX6):c.1020C>T (p.Tyr340=)Aniridia 1 [RCV002209967]likely benign113179349231793492Human1name
152048777CV1607043single nucleotide variantNM_001368894.2(PAX6):c.1236C>T (p.Ser412=)Aniridia 1 [RCV002108994]|PAX6-related disorder [RCV004531450]benign113179000931790009Human3name , trait , alternate_id
152060013CV1643374single nucleotide variantNM_001368894.2(PAX6):c.1194G>A (p.Gln398=)Aniridia 1 [RCV002206768]likely benign113179074131790741Human1name
152061293CV1646009single nucleotide variantNM_001368894.2(PAX6):c.1098C>T (p.Ser366=)Aniridia 1 [RCV002217215]likely benign113179083731790837Human1name
152054503CV1664416single nucleotide variantNM_001368894.2(PAX6):c.1221A>C (p.Ser407=)Aniridia 1 [RCV002158341]|Aniridia 1 [RCV002505835]likely benign113179071431790714Human2name
152981173CV1676432single nucleotide variantNM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)Aniridia 1 [RCV003093967]|Irido-corneo-trabecular dysgenesis [RCV002245510]likely pathogenic|uncertain significance113180170031801700Human2name
155642848CV1706423deletionNM_001368894.2(PAX6):c.343del (p.Glu115fs)Aniridia 1 [RCV002287279]pathogenic113180161731801617Human1name
155641939CV1707186single nucleotide variantNM_001368894.2(PAX6):c.219G>T (p.Arg73Ser)not provided [RCV002288116]likely pathogenic113180174131801741Humanname
155715126CV1760408single nucleotide variantNM_001368894.2(PAX6):c.184G>T (p.Val62Leu)not provided [RCV002300915]likely pathogenic113180177631801776Humanname
9693157CV177906single nucleotide variantNM_001368894.2(PAX6):c.1032G>A (p.Pro344=)Aniridia 1 [RCV001518660]|PAX6-related disorder [RCV004532730]|not provided [RCV000723685]|not specified [RCV000153640]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance113179348031793480Human3name , trait , alternate_id
9693158CV177907single nucleotide variantNM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)Anophthalmia-microphthalmia syndrome [RCV000207422]|not provided [RCV000153641]pathogenic|uncertain significance113180176831801768Human1name
8557442CV18511single nucleotide variantNM_001368894.2(PAX6):c.233G>T (p.Gly78Val)Aniridia 1 [RCV000984384]|Foveal hypoplasia 1 with cataract [RCV000003637]pathogenic113180172731801727Human2name
8557443CV18512single nucleotide variantNM_001368894.2(PAX6):c.161T>A (p.Val54Asp)ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES [RCV000003638]|Foveal hypoplasia 1 with or without anterior segment anomalies [RCV000128793]pathogenic113180189331801893Human2name
8557445CV18514single nucleotide variantNM_001368894.2(PAX6):c.244C>T (p.Pro82Ser)Coloboma of optic nerve [RCV000003643]pathogenic113180171631801716Human2name
155800261CV1862865single nucleotide variantNM_001368894.2(PAX6):c.183C>G (p.Asn61Lys)Gillespie syndrome [RCV002472273]uncertain significance113180187131801871Human1name
156064685CV1878043single nucleotide variantNM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)Aniridia 1 [RCV003037378]pathogenic113180170431801704Human1name
156064717CV1878044single nucleotide variantNM_001368894.2(PAX6):c.199G>C (p.Val67Leu)Aniridia 1 [RCV003037379]likely pathogenic113180176131801761Human1name
156233051CV1885267single nucleotide variantNM_001368894.2(PAX6):c.1017C>T (p.Thr339=)Aniridia 1 [RCV003085445]likely benign113179349531793495Human1name
155966323CV1892182single nucleotide variantNM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)Aniridia 1 [RCV003074949]|Coloboma, ocular, autosomal dominant [RCV003883472]|Irido-corneo-trabecular dysgenesis [RCV003491223]pathogenic|likely pathogenic113180273231802732Human3name
156360091CV1910841single nucleotide variantNM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)Aniridia 1 [RCV002632616]likely pathogenic113180273231802732Human1name
156419726CV1974242single nucleotide variantNM_001368894.2(PAX6):c.1041C>T (p.Pro347=)Aniridia 1 [RCV002612967]likely benign113179347131793471Human1name
155933053CV2060907duplicationNM_001368894.2(PAX6):c.893dup (p.His298fs)Aniridia 1 [RCV002815171]pathogenic113179371631793717Human1name
156296772CV2065362single nucleotide variantNM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)Aniridia 1 [RCV002856977]likely pathogenic113180176231801762Human1name
156220311CV2067844duplicationNM_001368894.2(PAX6):c.803dup (p.Gln269fs)Aniridia 1 [RCV002829659]pathogenic113179403531794036Human1name
156180908CV2068456single nucleotide variantNM_001368894.2(PAX6):c.1029G>T (p.Leu343=)Aniridia 1 [RCV002851832]likely benign113179348331793483Human1name
156038087CV2097843single nucleotide variantNM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)Aniridia 1 [RCV002885693]likely benign113178995231789952Human1name
156233706CV2108577duplicationNM_001368894.2(PAX6):c.939dup (p.Pro314fs)Aniridia 1 [RCV002919034]pathogenic113179367031793671Human1name
156261416CV2138656single nucleotide variantNM_001368894.2(PAX6):c.1266C>T (p.Pro422=)Aniridia 1 [RCV002988479]|PAX6-related disorder [RCV004536509]likely benign113178997931789979Human3name , trait , alternate_id
10766555CV213988single nucleotide variantNM_001368894.2(PAX6):c.239T>A (p.Ile80Asn)Developmental cataract [RCV000203333]likely pathogenic113180172131801721Human2name
156304922CV2157157single nucleotide variantNM_001368894.2(PAX6):c.1287T>G (p.Ser429=)Aniridia 1 [RCV003028273]likely benign113178995831789958Human1name
155940106CV2157929single nucleotide variantNM_001368894.2(PAX6):c.115C>G (p.Pro39Ala)Aniridia 1 [RCV003014207]uncertain significance113180273031802730Human1name
156328042CV2161083single nucleotide variantNM_001368894.2(PAX6):c.185T>G (p.Val62Gly)Aniridia 1 [RCV003029603]uncertain significance113180177531801775Human1name
156313692CV2161973deletionNM_001368894.2(PAX6):c.560del (p.Thr187fs)Aniridia 1 [RCV003028730]pathogenic113180069631800696Human1name
156010497CV2170487single nucleotide variantNM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)Aniridia 1 [RCV003017716]uncertain significance113180168031801680Human1name
11544071CV254135single nucleotide variantNM_001368894.2(PAX6):c.1215C>T (p.Thr405=)not specified [RCV000243305]likely benign113179072031790720Humanname
11559992CV259980single nucleotide variantNM_001368894.2(PAX6):c.241A>T (p.Arg81Ter)not provided [RCV000255443]pathogenic113180171931801719Humanname
11632858CV264481deletionNM_001368894.2(PAX6):c.593del (p.Gly198fs)not provided [RCV000291759]pathogenic113179476131794761Humanname
11633749CV264534deletionNM_001368894.2(PAX6):c.413del (p.Asn138fs)Aniridia 1 [RCV000496054]|not provided [RCV000366830]pathogenic113180084331800843Human1name
11637359CV267668single nucleotide variantNM_001368894.2(PAX6):c.275T>C (p.Val92Ala)not provided [RCV000284578]uncertain significance113180168531801685Humanname
11633091CV270486deletionNM_001368894.2(PAX6):c.524del (p.Gly175fs)not provided [RCV000310498]pathogenic113180073231800732Humanname
11638149CV273849single nucleotide variantNM_001368894.2(PAX6):c.121G>C (p.Asp41His)not provided [RCV000298226]uncertain significance113180272431802724Humanname
11578896CV274286single nucleotide variantNM_001368894.2(PAX6):c.1179A>C (p.Thr393=)11p partial monosomy syndrome [RCV000342402]|Aniridia 1 [RCV000400886]|Aniridia 1 [RCV001086844]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000301599]|Anophthalmia-microphthalmia syndrome [RCV000381110]|Autosomal dominant keratitis [RCV000346346]|Foveal hypoplasia 1 [RCV000395656]|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance113179075631790756Human8name
401901852CV2804527single nucleotide variantNM_001368894.2(PAX6):c.199G>A (p.Val67Met)PAX6-related disorder [RCV004534399]uncertain significance113180176131801761Humanname , trait , alternate_id
401929021CV2816546single nucleotide variantNM_001368894.2(PAX6):c.295A>G (p.Ser99Gly)not provided [RCV003390032]uncertain significance113180166531801665Humanname
407428011CV2845029single nucleotide variantNM_001368894.2(PAX6):c.140A>T (p.Gln47Leu)Aniridia 1 [RCV004587516]likely pathogenic113180270531802705Human1name
407428012CV2845030deletionNM_001368894.2(PAX6):c.398del (p.Ser133fs)Aniridia 1 [RCV004587517]likely pathogenic113180156231801562Human1name
407428015CV2845033duplicationNM_001368894.2(PAX6):c.823dup (p.Arg275fs)Aniridia 1 [RCV004587520]likely pathogenic113179378631793787Human1name
404998195CV3085800single nucleotide variantNM_001368894.2(PAX6):c.1119C>A (p.Pro373=)Aniridia 1 [RCV003783170]likely benign113179081631790816Human1name
404985464CV3096759duplicationNM_001368894.2(PAX6):c.992dup (p.Thr332fs)Aniridia 1 [RCV003792148]pathogenic113179351931793520Human1name
405171548CV3104394single nucleotide variantNM_001368894.2(PAX6):c.274G>C (p.Val92Leu)Aniridia 1 [RCV003803071]uncertain significance113180168631801686Human1name
405089470CV3104986single nucleotide variantNM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)Aniridia 1 [RCV003800869]uncertain significance113180170331801703Human1name
405011159CV3109248single nucleotide variantNM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)Aniridia 1 [RCV003804916]uncertain significance113180272131802721Human1name
405155205CV3110354duplicationNM_001368894.2(PAX6):c.469dup (p.Tyr157fs)Aniridia 1 [RCV003817875]pathogenic113180078631800787Human1name
405072785CV3111519single nucleotide variantNM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)Aniridia 1 [RCV003809859]uncertain significance113180176631801766Human1name
405109301CV3112482single nucleotide variantNM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)Aniridia 1 [RCV003813325]likely pathogenic113180273631802736Human1name
405261598CV3184743single nucleotide variantNM_001368894.2(PAX6):c.202A>C (p.Ser68Arg)Coloboma, ocular, autosomal dominant [RCV003883476]pathogenic113180175831801758Human1name
405261600CV3184744single nucleotide variantNM_001368894.2(PAX6):c.204T>G (p.Ser68Arg)Coloboma, ocular, autosomal dominant [RCV003883477]pathogenic113180175631801756Human1name
405289167CV3193956deletionNM_001368894.2(PAX6):c.609del (p.Ile204fs)PAX6-related disorder [RCV004544161]pathogenic113179474531794745Humanname , trait , alternate_id
405270213CV3215423single nucleotide variantNM_001368894.2(PAX6):c.173A>G (p.Asp58Gly)PAX6-related disorder [RCV004542323]uncertain significance113180188131801881Humanname , trait , alternate_id
405853726CV3395158duplicationNM_001368894.2(PAX6):c.528dup (p.Tyr177fs)Aniridia 1 [RCV004555300]pathogenic113180072731800728Human1name
407507567CV3496101deletionNM_001368894.2(PAX6):c.467del (p.Met156fs)not provided [RCV004697941]pathogenic113180078931800789Humanname
407574647CV3499658single nucleotide variantNM_001368894.2(PAX6):c.107G>C (p.Gly36Ala)not provided [RCV004720151]likely pathogenic113180273831802738Humanname
408371259CV3503718deletionNM_001368894.2(PAX6):c.766del (p.Arg256fs)PAX6-related disorder [RCV004724601]pathogenic113179407331794073Humanname , trait , alternate_id
408376042CV3506655single nucleotide variantNM_001368894.2(PAX6):c.193G>C (p.Gly65Arg)PAX6-related disorder [RCV004726427]likely pathogenic113180176731801767Humanname , trait , alternate_id
597840630CV3864515single nucleotide variantNM_001368894.2(PAX6):c.1161C>G (p.Thr387=)Aniridia 1 [RCV005211126]likely benign113179077431790774Human1name
597868346CV3869432deletionNM_001368894.2(PAX6):c.307del (p.Gln103fs)Aniridia 1 [RCV005215363]pathogenic113180165331801653Human1name
597907831CV3870383single nucleotide variantNM_001368894.2(PAX6):c.198T>A (p.Cys66Ter)Aniridia 1 [RCV005221434]pathogenic113180176231801762Human1name
597900116CV3876275single nucleotide variantNM_001368894.2(PAX6):c.130C>G (p.Arg44Gly)Aniridia 1 [RCV005220165]uncertain significance113180271531802715Human1name
597928449CV3878849single nucleotide variantNM_001368894.2(PAX6):c.1209G>A (p.Ser403=)Aniridia 1 [RCV005224508]likely benign113179072631790726Human1name
598212598CV4009068single nucleotide variantNM_001368894.2(PAX6):c.262A>G (p.Ser88Gly)Aniridia 1 [RCV005400682]likely pathogenic113180169831801698Human1name
616935438CV4016049single nucleotide variantNM_001368894.2(PAX6):c.206A>G (p.Lys69Arg)not provided [RCV005414913]likely pathogenic113180175431801754Humanname
13528287CV424444single nucleotide variantNM_001368894.2(PAX6):c.131G>C (p.Arg44Pro)Developmental cataract [RCV000603782]pathogenic113180271431802714Human3name
13208149CV424514deletionNM_001368894.2(PAX6):c.921del (p.Ser308fs)Aniridia 1 [RCV000496021]pathogenic113179368931793689Human1name
13208172CV424516duplicationNM_001368894.2(PAX6):c.834dup (p.Trp279fs)Aniridia 1 [RCV000496046]pathogenic113179377531793776Human1name
13208130CV424517deletionNM_001368894.2(PAX6):c.802del (p.Ile268fs)Aniridia 1 [RCV000495995]pathogenic113179403731794037Human1name
13208167CV424522deletionNM_001368894.2(PAX6):c.533del (p.Pro178fs)Aniridia 1 [RCV000496040]pathogenic113180072331800723Human1name
13208133CV424526deletionNM_001368894.2(PAX6):c.443del (p.Lys148fs)Aniridia 1 [RCV000495998]pathogenic113180081331800813Human1name
13208180CV424529deletionNM_001368894.2(PAX6):c.395del (p.Pro132fs)Aniridia 1 [RCV000496055]pathogenic113180156531801565Human1name
13208177CV424534single nucleotide variantNM_001368894.2(PAX6):c.286G>T (p.Glu96Ter)Aniridia 1 [RCV000496051]pathogenic113180167431801674Human1name
13208144CV424535single nucleotide variantNM_001368894.2(PAX6):c.226G>T (p.Glu76Ter)Aniridia 1 [RCV000496016]pathogenic113180173431801734Human1name
13208190CV424536single nucleotide variantNM_001368894.2(PAX6):c.206A>C (p.Lys69Thr)Aniridia 1 [RCV000496066]likely pathogenic113180175431801754Human1name
13208162CV424537single nucleotide variantNM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)Aniridia 1 [RCV000496035]|not provided [RCV000657914]pathogenic113180176731801767Human1name
13208131CV424542single nucleotide variantNM_001368894.2(PAX6):c.140A>G (p.Gln47Arg)Aniridia 1 [RCV000495996]pathogenic113180270531802705Human1name
13208161CV424543single nucleotide variantNM_001368894.2(PAX6):c.130C>T (p.Arg44Ter)Aniridia 1 [RCV000496034]|Aniridia 1 [RCV005222973]|PAX6-related disorder [RCV004740267]pathogenic113180271531802715Human3name , trait , alternate_id
13435591CV432304single nucleotide variantNM_001368894.2(PAX6):c.1266C>G (p.Pro422=)Aniridia 1 [RCV000505629]uncertain significance113178997931789979Human1name
13486920CV444793single nucleotide variantNM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr)not provided [RCV000523067]likely pathogenic113180177231801772Humanname
13490029CV461052deletionNM_001368894.2(PAX6):c.537del (p.Thr180fs)Aniridia 1 [RCV000533224]|Aniridia 1 [RCV000984417]pathogenic113180071931800719Human1name
13488610CV461054deletionNM_001368894.2(PAX6):c.512del (p.Gly171fs)Aniridia 1 [RCV000554918]pathogenic113180074431800744Human1name
13477188CV461056single nucleotide variantNM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)Aniridia 1 [RCV000527030]pathogenic113180272531802725Human1name
13493383CV461225single nucleotide variantNM_001368894.2(PAX6):c.1023C>T (p.Ser341=)Aniridia 1 [RCV002060303]likely benign113179348931793489Human1name
8570727CV48596single nucleotide variantNM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)Aniridia 1 [RCV000033168]|Aniridia 1 [RCV003764654]|Coloboma, ocular, autosomal dominant [RCV003883464]pathogenic|likely pathogenic113180273331802733Human2name
13522074CV491460deletionNM_001368894.2(PAX6):c.994del (p.Thr332fs)not provided [RCV000591275]pathogenic113179351831793518Humanname
13520703CV495710deletionNM_001368894.2(PAX6):c.321del (p.Glu107fs)not provided [RCV000598851]pathogenic113180163931801639Humanname
13619081CV526626single nucleotide variantNM_001368894.2(PAX6):c.139C>T (p.Gln47Ter)Aniridia 1 [RCV000635405]pathogenic113180270631802706Human1name
14393155CV550338indelNM_001368894.2(PAX6):c.-52+3_-52+6delinsTGAniridia 1 [RCV000757887]pathogenic113180684331806846Humanname
13807736CV565700single nucleotide variantNM_001368894.2(PAX6):c.262A>T (p.Ser88Cys)Aniridia 1 [RCV000701300]uncertain significance113180169831801698Human1name
14699610CV624856single nucleotide variantNM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)Aniridia 1 [RCV000789036]|Foveal hypoplasia 1 [RCV001249825]|not provided [RCV001281650]pathogenic|likely pathogenic113180273331802733Human2name
14743533CV639953duplicationNM_001368894.2(PAX6):c.817dup (p.Ser273fs)Aniridia 1 [RCV000823497]|Aniridia 1 [RCV000984435]pathogenic113179379231793793Human1name
15173778CV788992deletionNM_001368894.2(PAX6):c.951del (p.Thr318fs)Aniridia 1 [RCV000984441]pathogenic113179365931793659Human1name
15173772CV788995deletionNM_001368894.2(PAX6):c.846del (p.Glu283fs)Aniridia 1 [RCV000984438]pathogenic113179376431793764Human1name
15173768CV788996deletionNM_001368894.2(PAX6):c.843del (p.Glu282fs)Aniridia 1 [RCV000984437]pathogenic113179376731793767Human1name
15173765CV788997deletionNM_001368894.2(PAX6):c.834del (p.Lys278fs)Aniridia 1 [RCV000984436]pathogenic113179377631793776Human1name
15173735CV789005deletionNM_001368894.2(PAX6):c.569del (p.Gly190fs)Aniridia 1 [RCV000984422]pathogenic113179478531794785Human1name
15173719CV789008deletionNM_001368894.2(PAX6):c.517del (p.Arg173fs)Aniridia 1 [RCV000984415]pathogenic113180073931800739Human1name
15173707CV789013duplicationNM_001368894.2(PAX6):c.415dup (p.Arg139fs)Aniridia 1 [RCV000984408]pathogenic113180084031800841Human1name
15173678CV789018deletionNM_001368894.2(PAX6):c.373del (p.Val125fs)Aniridia 1 [RCV000984397]|Aniridia 1 [RCV001245881]pathogenic113180158731801587Human1name
15173683CV789019duplicationNM_001368894.2(PAX6):c.373dup (p.Val125fs)Aniridia 1 [RCV000984398]|Aniridia 1 [RCV002550583]pathogenic113180158631801587Human1name
15173676CV789022deletionNM_001368894.2(PAX6):c.367del (p.Glu123fs)Aniridia 1 [RCV000984395]pathogenic113180159331801593Human1name
15173668CV789024deletionNM_001368894.2(PAX6):c.323del (p.Cys108fs)Aniridia 1 [RCV000984392]pathogenic113180163731801637Human1name
15173656CV789028single nucleotide variantNM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)Aniridia 1 [RCV000984387]|Aniridia 1 [RCV002549623]|not provided [RCV003117658]pathogenic|likely pathogenic113180170431801704Human1name
15173655CV789029single nucleotide variantNM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)Aniridia 1 [RCV004669181]|Foveal hypoplasia 1 [RCV000984386]likely pathogenic113180170431801704Human2name
15173650CV789031single nucleotide variantNM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter)Aniridia 1 [RCV000984383]pathogenic113180173531801735Human1name
15173643CV789033single nucleotide variantNM_001368894.2(PAX6):c.212T>C (p.Leu71Pro)Aniridia 1 [RCV000984381]likely pathogenic113180174831801748Human1name
15173639CV789035single nucleotide variantNM_001368894.2(PAX6):c.205A>T (p.Lys69Ter)Aniridia 1 [RCV000984379]|not provided [RCV004773211]pathogenic113180175531801755Human1name
15173636CV789037single nucleotide variantNM_001368894.2(PAX6):c.200T>G (p.Val67Gly)Aniridia 1 [RCV000984378]pathogenic113180176031801760Human1name
15173621CV789038single nucleotide variantNM_001368894.2(PAX6):c.140A>C (p.Gln47Pro)Aniridia 1 [RCV000984372]pathogenic113180270531802705Human1name
15173619CV789040single nucleotide variantNM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)Aniridia 1 [RCV000984371]|Aniridia 1 [RCV001058452]pathogenic|likely pathogenic|uncertain significance113180271731802717Human1name
15173615CV789041single nucleotide variantNM_001368894.2(PAX6):c.125T>G (p.Ile42Ser)Aniridia 1 [RCV000984370]likely pathogenic113180272031802720Human1name
15173602CV789046single nucleotide variantNM_001368894.2(PAX6):c.107G>T (p.Gly36Val)Aniridia 1 [RCV000984363]likely pathogenic113180273831802738Human1name
15173601CV789047single nucleotide variantNM_001368894.2(PAX6):c.107G>A (p.Gly36Glu)Aniridia 1 [RCV000984362]likely pathogenic113180273831802738Human1name
8624253CV79361single nucleotide variantNM_001368894.2(PAX6):c.194G>T (p.Gly65Val)Anterior segment dysgenesis [RCV001200041]|Irido-corneo-trabecular dysgenesis [RCV000059340]pathogenic|likely pathogenic113180176631801766Human3name
25318104CV805685duplicationNM_001368894.2(PAX6):c.609dup (p.Ile204fs)not provided [RCV001008419]pathogenic113179474431794745Humanname
38482758CV926195single nucleotide variantNM_001368894.2(PAX6):c.245C>T (p.Pro82Leu)Aniridia 1 [RCV001218640]uncertain significance113180171531801715Human1name
126773941CV1030203single nucleotide variantNM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)Aniridia 1 [RCV001346651]uncertain significance113180083931800839Human1name
150553189CV1298224single nucleotide variantNM_001368894.2(PAX6):c.808G>C (p.Val270Leu)not provided [RCV001768837]uncertain significance113179380231793802Humanname
150554833CV1304577single nucleotide variantNM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)Aniridia 1 [RCV001868623]|Congenital aniridia [RCV005420408]|not provided [RCV001771547]conflicting interpretations of pathogenicity|uncertain significance|not provided113179407831794078Human2name
150543147CV1315112duplicationNM_001368894.2(PAX6):c.1166dup (p.His390fs)Aniridia 1 [RCV003772154]|not provided [RCV001782568]likely pathogenic|uncertain significance113179076831790769Human1name
151721146CV1350627single nucleotide variantNM_001368894.2(PAX6):c.949A>G (p.Thr317Ala)Aniridia 1 [RCV002038888]uncertain significance113179366131793661Human1name
151826045CV1351820single nucleotide variantNM_001368894.2(PAX6):c.553C>A (p.Gln185Lys)Aniridia 1 [RCV001974122]uncertain significance113180070331800703Human1name
151804954CV1358100single nucleotide variantNM_001368894.2(PAX6):c.556C>A (p.Pro186Thr)Aniridia 1 [RCV001930367]uncertain significance113180070031800700Human1name
151792590CV1360321single nucleotide variantNM_001368894.2(PAX6):c.541T>A (p.Ser181Thr)Aniridia 1 [RCV001907168]uncertain significance113180071531800715Human1name
151828620CV1361883single nucleotide variantNM_001368894.2(PAX6):c.956C>T (p.Pro319Leu)Aniridia 1 [RCV001978931]uncertain significance113179365431793654Human1name
151798237CV1373685deletionNM_001368894.2(PAX6):c.1086del (p.Ser363fs)Aniridia 1 [RCV001917511]pathogenic113179084931790849Human1name
151822754CV1381689single nucleotide variantNM_001368894.2(PAX6):c.533C>T (p.Pro178Leu)Aniridia 1 [RCV001967969]uncertain significance113180072331800723Human1name
151783811CV1394768single nucleotide variantNM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)Aniridia 1 [RCV001888359]|Inborn genetic diseases [RCV004656701]uncertain significance113180078631800786Human2name
151815569CV1397279single nucleotide variantNM_001368894.2(PAX6):c.524G>A (p.Gly175Asp)Aniridia 1 [RCV001952009]uncertain significance113180073231800732Human1name
151802915CV1425500single nucleotide variantNM_001368894.2(PAX6):c.336T>A (p.Phe112Leu)Aniridia 1 [RCV001926568]uncertain significance113180162431801624Human1name
151827393CV1426552single nucleotide variantNM_001368894.2(PAX6):c.803T>G (p.Ile268Arg)Aniridia 1 [RCV001976652]uncertain significance113179403631794036Human1name
151720012CV1429448single nucleotide variantNM_001368894.2(PAX6):c.709G>T (p.Glu237Ter)Aniridia 1 [RCV002035231]pathogenic113179464531794645Human1name
151825292CV1471336single nucleotide variantNM_001368894.2(PAX6):c.425G>C (p.Arg142Pro)Aniridia 1 [RCV001972713]pathogenic113180083131800831Human1name
151783072CV1476779deletionNM_001368894.2(PAX6):c.1061del (p.Asn354fs)Aniridia 1 [RCV001887044]pathogenic113179345131793451Human1name
151831414CV1490327single nucleotide variantNM_001368894.2(PAX6):c.590G>C (p.Gly197Ala)Aniridia 1 [RCV001985051]|not provided [RCV003130628]uncertain significance113179476431794764Human1name
151722779CV1508968single nucleotide variantNM_001368894.2(PAX6):c.538A>T (p.Thr180Ser)Aniridia 1 [RCV002043505]uncertain significance113180071831800718Human1name
152999799CV1683359single nucleotide variantNM_001368894.2(PAX6):c.683G>C (p.Arg228Thr)See cases [RCV002252543]likely pathogenic113179467131794671Humanname
155644697CV1708756single nucleotide variantNM_001368894.2(PAX6):c.410T>A (p.Ile137Lys)Congenital aniridia [RCV005420429]pathogenic113180084631800846Human1name
155644699CV1708757deletionNM_001368894.2(PAX6):c.1017del (p.Tyr340fs)Congenital aniridia [RCV005420430]pathogenic113179349531793495Human1name
155734598CV1774408single nucleotide variantNM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)Aniridia 1 [RCV002301864]uncertain significance113179367631793676Human1name
8557431CV18500single nucleotide variantNM_001368894.2(PAX6):c.448C>T (p.Gln150Ter)Aniridia 1 [RCV000003625]pathogenic113180080831800808Human1name
8557434CV18503single nucleotide variantNM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)Aniridia 1 [RCV000003629]|Aniridia 1 [RCV001851620]|not provided [RCV000414332]pathogenic113180161131801611Human1name
8557436CV18505single nucleotide variantNM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)Aniridia 1 [RCV000003631]|Aniridia 1 [RCV000543409]|Inborn genetic diseases [RCV004955249]|not provided [RCV000790810]pathogenic113179470531794705Human2name
8557437CV18506single nucleotide variantNM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)Aniridia 1 [RCV000003632]|Aniridia 1 [RCV000536976]|Irido-corneo-trabecular dysgenesis [RCV005252661]|not provided [RCV000312176]pathogenic113179407931794079Human2name
8557440CV18509single nucleotide variantNM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)Aniridia 1 [RCV000984410]|Aniridia 1 [RCV001851621]|Foveal hypoplasia 1 [RCV000003635]pathogenic113180083231800832Human2name
8557441CV18510single nucleotide variantNM_001368894.2(PAX6):c.419T>A (p.Val140Asp)Aniridia 1 [RCV002512714]|Aniridia, atypical [RCV000003636]|PAX6-related ocular dysgenesis [RCV005255551]pathogenic|likely pathogenic113180083731800837Human4name , trait
8557446CV18515single nucleotide variantNM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)Aniridia 1 [RCV001246978]|Isolated optic nerve hypoplasia [RCV000003644]|not provided [RCV000481122]pathogenic113179469931794699Human4name
8557447CV18516single nucleotide variantNM_001368894.2(PAX6):c.815T>C (p.Phe272Ser)Coloboma, ocular, autosomal dominant [RCV003883461]pathogenic113179379531793795Human1name
8557450CV18519single nucleotide variantNM_001368894.2(PAX6):c.767G>C (p.Arg256Thr)Aniridia 1 [RCV000003649]pathogenic113179407231794072Human1name
8557451CV18520single nucleotide variantNM_001368894.2(PAX6):c.399C>A (p.Ser133Arg)Aniridia 1 [RCV000003650]|not provided [RCV003105769]pathogenic|likely pathogenic113180156131801561Human1name
8557453CV18522single nucleotide variantNM_001368894.2(PAX6):c.813G>A (p.Trp271Ter)Aniridia 1 [RCV000003652]pathogenic113179379731793797Human1name
156309259CV1878042single nucleotide variantNM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)Aniridia 1 [RCV003062353]pathogenic113180164131801641Human1name
156434978CV1940282single nucleotide variantNM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)Aniridia 1 [RCV003104696]uncertain significance113179475331794753Human1name
155982712CV1972517single nucleotide variantNM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)Aniridia 1 [RCV002617674]uncertain significance113179473331794733Human1name
156414499CV1986690single nucleotide variantNM_001368894.2(PAX6):c.373G>T (p.Val125Phe)Aniridia 1 [RCV002609230]likely benign|uncertain significance113180158731801587Human1name
156080807CV2022783single nucleotide variantNM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)Aniridia 1 [RCV002760618]uncertain significance113180079231800792Human1name
156151018CV2049086single nucleotide variantNM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)Aniridia 1 [RCV002801290]uncertain significance113180161031801610Human1name
156152345CV2049150single nucleotide variantNM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)Aniridia 1 [RCV002801333]uncertain significance113180084031800840Human1name
156287628CV2050256duplicationNM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)Aniridia 1 [RCV002807217]pathogenic113180276931802770Human1name
156270804CV2055963single nucleotide variantNM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)Aniridia 1 [RCV002806654]likely pathogenic113180162331801623Human1name
156109964CV2058184single nucleotide variantNM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)Aniridia 1 [RCV002824883]pathogenic113179467031794670Human1name
155967287CV2076980single nucleotide variantNM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)Aniridia 1 [RCV002863142]pathogenic113180160131801601Human1name
156321207CV2123805single nucleotide variantNM_001368894.2(PAX6):c.512G>T (p.Gly171Val)Aniridia 1 [RCV002963212]uncertain significance113180074431800744Human1name
156125466CV2124873single nucleotide variantNM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)Aniridia 1 [RCV002953667]likely benign113180079331800793Human1name
10766557CV213987deletionNM_001368894.2(PAX6):c.1119del (p.Thr374fs)Aniridia 1 [RCV000984459]|Developmental cataract [RCV000203337]pathogenic113179081631790816Human3name
155941187CV2158086single nucleotide variantNM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)Aniridia 1 [RCV003014278]uncertain significance113180159031801590Human1name
156359573CV2184019single nucleotide variantNM_001368894.2(PAX6):c.478C>G (p.Leu160Val)Aniridia 1 [RCV003048924]uncertain significance113180077831800778Human1name
156262825CV2191147single nucleotide variantNM_001368894.2(PAX6):c.518G>A (p.Arg173His)Aniridia 1 [RCV003044179]uncertain significance113180073831800738Human1name
156381418CV2215506single nucleotide variantNM_001368894.2(PAX6):c.691T>C (p.Phe231Leu)Inborn genetic diseases [RCV002678773]uncertain significance113179466331794663Human1name
156247867CV2263922single nucleotide variantNM_001368894.2(PAX6):c.416G>A (p.Arg139Lys)Inborn genetic diseases [RCV002830934]uncertain significance113180084031800840Human1name
156079453CV2300925single nucleotide variantNM_001368894.2(PAX6):c.647T>C (p.Met216Thr)Inborn genetic diseases [RCV002887355]uncertain significance113179470731794707Human1name
243051211CV2415757duplicationNM_001368894.2(PAX6):c.50_60dup (p.Leu21fs)Aniridia 1 [RCV003148366]likely pathogenic113180278431802785Human1name
401830166CV2416795duplicationNM_001368894.2(PAX6):c.1018dup (p.Tyr340fs)Aniridia 1 [RCV003326662]pathogenic113179349331793494Human1name
329351786CV2455305single nucleotide variantNM_001368894.2(PAX6):c.920C>G (p.Thr307Ser)Inborn genetic diseases [RCV003200043]uncertain significance113179369031793690Human1name
329351068CV2477897single nucleotide variantNM_001368894.2(PAX6):c.302T>G (p.Ile101Arg)not provided [RCV003224010]likely pathogenic113180165831801658Humanname
11632635CV264422single nucleotide variantNM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)Aniridia 1 [RCV000496007]|Aniridia 1 [RCV000547174]|Aniridia 1 [RCV000762839]|Aniridia 1 [RCV004796146]|PAX6-related disorder [RCV004545764]|not provided [RCV000272207]pathogenic113179378731793787Human12name , trait , alternate_id
404992682CV2739559single nucleotide variantNM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)Irido-corneo-trabecular dysgenesis [RCV003491359]likely pathogenic113179409431794094Human1name
401799018CV2741593indelNM_001368894.2(PAX6):c.1225+1_1225+8delinsCnot provided [RCV003323001]pathogenic113179070231790709Humanname
11638944CV275246single nucleotide variantNM_001368894.2(PAX6):c.619A>G (p.Asn207Asp)not provided [RCV000311477]uncertain significance113179473531794735Humanname
401923126CV2796635single nucleotide variantNM_001368894.2(PAX6):c.458C>T (p.Ala153Val)PAX6-related disorder [RCV004531534]uncertain significance113180079831800798Humanname , trait , alternate_id
401904248CV2816545single nucleotide variantNM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)Aniridia 1 [RCV003778377]|not provided [RCV003394796]uncertain significance113179472431794724Human1name
407428007CV2845025deletionNM_001368894.2(PAX6):c.49_61del (p.Asn17fs)Aniridia 1 [RCV004587512]likely pathogenic113180278431802796Human1name
407428008CV2845026single nucleotide variantNM_001368894.2(PAX6):c.850A>T (p.Lys284Ter)Aniridia 1 [RCV004587513]likely pathogenic113179376031793760Human1name
407428009CV2845027deletionNM_001368894.2(PAX6):c.1196del (p.Pro399fs)Aniridia 1 [RCV004587514]likely pathogenic113179073931790739Human1name
407428013CV2845031insertionNM_001368894.2(PAX6):c.399+1_399+2insATAACAAniridia 1 [RCV004587518]likely pathogenic113180155931801560Human1name
405076195CV3081161single nucleotide variantNM_001368894.2(PAX6):c.400G>A (p.Val134Met)Developmental disorder [RCV003764457]|Isolated optic nerve hypoplasia [RCV004527464]likely pathogenic|uncertain significance113180085631800856Human2name
405023003CV3081881single nucleotide variantNM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)Aniridia 1 [RCV003785487]uncertain significance113179373231793732Human1name
404987399CV3083728single nucleotide variantNM_001368894.2(PAX6):c.593G>T (p.Gly198Val)Aniridia 1 [RCV003782081]benign|uncertain significance113179476131794761Human1name
405002112CV3086350single nucleotide variantNM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)Aniridia 1 [RCV003783563]pathogenic113179473231794732Human1name
405002124CV3086351single nucleotide variantNM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)Aniridia 1 [RCV003783564]pathogenic113180076031800760Human1name
405002134CV3086352deletionNM_001368894.2(PAX6):c.44_45del (p.Phe15fs)Aniridia 1 [RCV003783565]pathogenic113180280031802801Human1name
405169268CV3104190single nucleotide variantNM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)Aniridia 1 [RCV003802867]uncertain significance113180158331801583Human1name
405015306CV3104437duplicationNM_001368894.2(PAX6):c.1038dup (p.Pro347fs)Aniridia 1 [RCV003805306]pathogenic113179347331793474Human1name
405015715CV3106949single nucleotide variantNM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)Aniridia 1 [RCV003795119]uncertain significance113180159331801593Human1name
405061617CV3108515single nucleotide variantNM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)Aniridia 1 [RCV003809093]uncertain significance113179478031794780Human1name
405155430CV3111302single nucleotide variantNM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)Aniridia 1 [RCV003801758]uncertain significance113179471131794711Human1name
405124986CV3111815single nucleotide variantNM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)Aniridia 1 [RCV003815288]pathogenic113180084131800841Human1name
405106591CV3113654single nucleotide variantNM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)Aniridia 1 [RCV003812776]|Inborn genetic diseases [RCV004366686]uncertain significance113179476931794769Human2name
405077995CV3114638single nucleotide variantNM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)Aniridia 1 [RCV003810200]uncertain significance113179379831793798Human1name
405261589CV3184740single nucleotide variantNM_001368894.2(PAX6):c.809T>C (p.Val270Ala)Coloboma, ocular, autosomal dominant [RCV003883473]pathogenic113179380131793801Human1name
405261593CV3184741single nucleotide variantNM_001368894.2(PAX6):c.414C>A (p.Asn138Lys)Coloboma, ocular, autosomal dominant [RCV003883474]pathogenic113180084231800842Human1name
405261595CV3184742single nucleotide variantNM_001368894.2(PAX6):c.414C>G (p.Asn138Lys)Coloboma, ocular, autosomal dominant [RCV003883475]pathogenic113180084231800842Human1name
405291394CV3222375deletionNM_001368894.2(PAX6):c.1253del (p.Pro418fs)Aniridia 1 [RCV003985682]not provided113178999231789992Humanname
11646861CV327282single nucleotide variantNM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)11p partial monosomy syndrome [RCV000308509]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000273315]|Anophthalmia-microphthalmia syndrome [RCV000399419]|Autosomal dominant keratitis [RCV000370306]|Congenital aniridia [RCV005420106]|Foveal hypoplasia 1 [RCV000363235]|carboxymethyl-dexuncertain significance113179476531794765Human6name
405852312CV3395905single nucleotide variantNM_001368894.2(PAX6):c.311A>G (p.Tyr104Cys)Aniridia 1 [RCV004556924]uncertain significance113180164931801649Human1name
408365387CV3499859single nucleotide variantNM_001368894.2(PAX6):c.562C>T (p.Gln188Ter)not provided [RCV004721901]pathogenic113180069431800694Humanname
408370392CV3509923single nucleotide variantNM_001368894.2(PAX6):c.639G>C (p.Glu213Asp)PAX6-related disorder [RCV004739743]uncertain significance113179471531794715Humanname , trait , alternate_id
596928406CV3541482single nucleotide variantNM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)Aniridia 1 [RCV004797354]uncertain significance113180072131800721Human2name
596926658CV3542351single nucleotide variantNM_001368894.2(PAX6):c.355A>T (p.Arg119Ter)Aniridia 1 [RCV004796566]pathogenic113180160531801605Human1name
12742563CV359933single nucleotide variantNM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)Albinism or congenital nystagmus [RCV005252874]|Aniridia 1 [RCV000557326]|Aniridia 1 [RCV000984450]|not provided [RCV000413962]pathogenic113179352131793521Human3name
12742498CV360004single nucleotide variantNM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)Aniridia 1 [RCV000984424]|Aniridia 1 [RCV001388984]|Foveal hypoplasia 1 [RCV002463362]|PAX6-related disorder [RCV004529567]|not provided [RCV000413794]pathogenic|likely pathogenic113179469031794690Human4name , trait , alternate_id
12848841CV371403single nucleotide variantNM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)Aniridia 1 [RCV001036942]|not provided [RCV000419144]pathogenic|likely pathogenic113180072831800728Human1name
597833334CV3864099single nucleotide variantNM_001368894.2(PAX6):c.499A>T (p.Thr167Ser)Aniridia 1 [RCV005209735]uncertain significance113180075731800757Human1name
597840754CV3864542single nucleotide variantNM_001368894.2(PAX6):c.398G>T (p.Ser133Ile)Aniridia 1 [RCV005211153]uncertain significance113180156231801562Human1name
597852204CV3869643single nucleotide variantNM_001368894.2(PAX6):c.919A>C (p.Thr307Pro)Aniridia 1 [RCV005212927]uncertain significance113179369131793691Human1name
597906613CV3870188single nucleotide variantNM_001368894.2(PAX6):c.404C>T (p.Ser135Leu)Aniridia 1 [RCV005221239]pathogenic113180085231800852Human1name
597835553CV3874226single nucleotide variantNM_001368894.2(PAX6):c.935C>A (p.Pro312Gln)Aniridia 1 [RCV005210146]benign113179367531793675Human1name
597844462CV3875773single nucleotide variantNM_001368894.2(PAX6):c.498G>T (p.Gln166His)Aniridia 1 [RCV005211855]uncertain significance113180075831800758Human1name
598225463CV3892368deletionNM_001368894.2(PAX6):c.1307del (p.Gln436fs)Aniridia 1 [RCV005254203]likely pathogenic113178993831789938Human1name
598245460CV3999102single nucleotide variantNM_001368894.2(PAX6):c.512G>A (p.Gly171Asp)Inborn genetic diseases [RCV005383903]uncertain significance113180074431800744Human1name
598245453CV4002362single nucleotide variantNM_001368894.2(PAX6):c.356G>A (p.Arg119Lys)Inborn genetic diseases [RCV005383902]uncertain significance113180160431801604Human1name
617152269CV4018349single nucleotide variantNM_001368894.2(PAX6):c.542C>T (p.Ser181Leu)not specified [RCV005418609]uncertain significance113180071431800714Humanname
12912936CV421850deletionNM_001368894.2(PAX6):c.1081del (p.Val361fs)not provided [RCV000493192]pathogenic113179085431790854Humanname
13208120CV424515single nucleotide variantNM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)Aniridia 1 [RCV000495982]|Aniridia 1 [RCV003766788]|not provided [RCV000627252]pathogenic113179377431793774Human1name
13208166CV424520single nucleotide variantNM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)Aniridia 1 [RCV000496039]|Aniridia 1 [RCV002527124]pathogenic113179465131794651Human1name
13208198CV424521single nucleotide variantNM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)Aniridia 1 [RCV000496078]|Aniridia 1 [RCV000635403]pathogenic113180070331800703Human1name
13208132CV424523single nucleotide variantNM_001368894.2(PAX6):c.509G>A (p.Trp170Ter)Aniridia 1 [RCV000495997]|not provided [RCV004816731]pathogenic113180074731800747Human1name
13208165CV424525single nucleotide variantNM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)Aniridia 1 [RCV000496038]|Aniridia 1 [RCV000699145]pathogenic113180081131800811Human1name
13208122CV424528single nucleotide variantNM_001368894.2(PAX6):c.399C>G (p.Ser133Arg)Aniridia 1 [RCV000495984]pathogenic113180156131801561Human1name
13208129CV424530single nucleotide variantNM_001368894.2(PAX6):c.342G>A (p.Trp114Ter)Aniridia 1 [RCV000495994]|not provided [RCV001269618]pathogenic113180161831801618Human1name
13208125CV424533single nucleotide variantNM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)Aniridia 1 [RCV000495990]|Aniridia 1 [RCV001865557]pathogenic113180165331801653Human1name
13472038CV444791single nucleotide variantNM_001368894.2(PAX6):c.844G>T (p.Glu282Ter)not provided [RCV000519019]pathogenic113179376631793766Humanname
13473557CV444792single nucleotide variantNM_001368894.2(PAX6):c.424C>A (p.Arg142Ser)not specified [RCV000519413]uncertain significance113180083231800832Humanname
13509228CV481988single nucleotide variantNM_001368894.2(PAX6):c.573C>A (p.Cys191Ter)Aniridia 1 [RCV004586806]|not provided [RCV000579241]pathogenic|likely pathogenic113179478131794781Human1name
13509368CV481989single nucleotide variantNM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)Aniridia 1 [RCV003767251]|not provided [RCV000579376]pathogenic|likely pathogenic113180084931800849Human1name
13508749CV485941single nucleotide variantNM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)Aniridia 1 [RCV000584784]|Aniridia 1 [RCV001853950]pathogenic113179374831793748Human1name
13508744CV485942single nucleotide variantNM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)Aniridia 1 [RCV000584776]|Aniridia 1 [RCV002530828]pathogenic113179477431794774Human1name
13508786CV485943single nucleotide variantNM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)Aniridia 1 [RCV000584828]|Aniridia 1 [RCV000635400]pathogenic113180159331801593Human1name
13523447CV491461single nucleotide variantNM_001368894.2(PAX6):c.997G>A (p.Asp333Asn)not provided [RCV000593006]uncertain significance113179351531793515Humanname
13530999CV511911single nucleotide variantNM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)Aniridia 1 [RCV000984413]|Aniridia 1 [RCV001860432]|Inborn genetic diseases [RCV000622960]pathogenic113180074631800746Human2name
13790668CV550137single nucleotide variantNM_001368894.2(PAX6):c.341G>A (p.Trp114Ter)Aniridia 1 [RCV000677120]|not provided [RCV005004356]pathogenic113180161931801619Human1name
13804585CV551625deletionNM_001604.5(PAX6):c.(10+1_11-1)_(1311_?)delCongenital aniridia [RCV005420227]pathogenic113178993431802835Human1name
13820743CV576140single nucleotide variantNM_001368894.2(PAX6):c.574C>T (p.Gln192Ter)Congenital aniridia [RCV005420233]not provided113179478031794780Humanname
14393425CV609013single nucleotide variantNM_001368894.2(PAX6):c.347T>A (p.Ile116Asn)Aniridia 1 [RCV000754778]pathogenic113180161331801613Human1name
14399244CV613758single nucleotide variantNM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)11p partial monosomy syndrome [RCV000768370]|not provided [RCV000994596]uncertain significance113180165231801652Human1name
14736263CV639954single nucleotide variantNM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)Aniridia 1 [RCV000803537]likely pathogenic|uncertain significance113179468031794680Human1name
15173832CV788981duplicationNM_001368894.2(PAX6):c.1282dup (p.Met428fs)Aniridia 1 [RCV000984465]pathogenic113178996231789963Human1name
15173824CV788982deletionNM_001368894.2(PAX6):c.1211del (p.Gly404fs)Aniridia 1 [RCV000984462]pathogenic113179072431790724Human1name
15173808CV788986duplicationNM_001368894.2(PAX6):c.1086dup (p.Ser363fs)Aniridia 1 [RCV000984455]pathogenic113179084831790849Human1name
15173804CV788987deletionNM_001368894.2(PAX6):c.1079del (p.Pro360fs)Aniridia 1 [RCV000984454]pathogenic113179085631790856Human1name
15173775CV788993single nucleotide variantNM_001368894.2(PAX6):c.871C>T (p.Gln291Ter)Aniridia 1 [RCV000984440]pathogenic113179373931793739Human1name
15173761CV788998single nucleotide variantNM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)Aniridia 1 [RCV000984434]|Aniridia 1 [RCV003769284]pathogenic113179379831793798Human1name
15173756CV788999single nucleotide variantNM_001368894.2(PAX6):c.807G>C (p.Gln269His)Aniridia 1 [RCV000984431]|not provided [RCV005241414]pathogenic113179403231794032Human1name
15173744CV789002single nucleotide variantNM_001368894.2(PAX6):c.682A>G (p.Arg228Gly)Aniridia 1 [RCV000984426]pathogenic113179467231794672Human1name
15173726CV789006single nucleotide variantNM_001368894.2(PAX6):c.542C>A (p.Ser181Ter)Aniridia 1 [RCV000984418]pathogenic113180071431800714Human1name
15173720CV789007single nucleotide variantNM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter)Aniridia 1 [RCV000984416]|not provided [RCV003106085]pathogenic113180072531800725Human1name
15173714CV789010single nucleotide variantNM_001368894.2(PAX6):c.425G>T (p.Arg142Leu)Aniridia 1 [RCV000984412]|not provided [RCV001091518]likely pathogenic113180083131800831Human1name
15173712CV789011single nucleotide variantNM_001368894.2(PAX6):c.425G>A (p.Arg142His)Aniridia 1 [RCV000984411]likely pathogenic113180083131800831Human1name
15173701CV789014single nucleotide variantNM_001368894.2(PAX6):c.407C>G (p.Ser136Ter)Aniridia 1 [RCV000984407]pathogenic113180084931800849Human1name
15173685CV789016deletionNM_000280.4(PAX6):c.345_351del (p.Asn116fs)Aniridia 1 [RCV000984400]pathogenic113180156731801573Humanname
15173662CV789025single nucleotide variantNM_001368894.2(PAX6):c.317G>C (p.Arg106Pro)Aniridia 1 [RCV000984391]likely pathogenic113180164331801643Human1name
15173591CV789050deletionNM_001368894.2(PAX6):c.66_75del (p.Asp23fs)Aniridia 1 [RCV000984358]pathogenic113180277031802779Human1name
15173581CV789052deletionNM_001368894.2(PAX6):c.47_57del (p.Val16fs)Aniridia 1 [RCV000984354]pathogenic113180278831802798Human1name
21073941CV796567single nucleotide variantNM_001368894.2(PAX6):c.724G>A (p.Glu242Lys)not provided [RCV000994595]likely pathogenic|uncertain significance113179463031794630Humanname
25318766CV805683deletionNM_001368894.2(PAX6):c.1242del (p.Val415fs)not provided [RCV001008808]likely pathogenic113179000331790003Humanname
26897681CV822053single nucleotide variantNM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)Aniridia 1 [RCV001034269]|not provided [RCV001772208]likely benign|uncertain significance113179473231794732Human1name
26898205CV838291single nucleotide variantNM_001368894.2(PAX6):c.808G>T (p.Val270Leu)Aniridia 1 [RCV001048815]uncertain significance113179380231793802Human1name
26916613CV838293single nucleotide variantNM_001368894.2(PAX6):c.493G>T (p.Gly165Trp)Aniridia 1 [RCV001042089]uncertain significance113180076331800763Human1name
26922247CV838298duplicationNM_001368894.2(PAX6):c.62_65dup (p.Asp23fs)Aniridia 1 [RCV001061758]|Aniridia 1 [RCV004587033]pathogenic|likely pathogenic113180277931802780Human1name
28899687CV867848single nucleotide variantNM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)Anophthalmia-microphthalmia syndrome [RCV001103478]|Autosomal dominant keratitis [RCV001103476]|Foveal hypoplasia 1 [RCV001103479]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103477]uncertain significance113179352031793520Human4name
28906427CV867853single nucleotide variantNM_001368894.2(PAX6):c.560C>T (p.Thr187Met)Anophthalmia-microphthalmia syndrome [RCV001106649]|Autosomal dominant keratitis [RCV001106650]|Foveal hypoplasia 1 [RCV001106648]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106651]uncertain significance113180069631800696Human4name
28906435CV867854single nucleotide variantNM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)Anophthalmia-microphthalmia syndrome [RCV001106652]|Autosomal dominant keratitis [RCV001106653]|Foveal hypoplasia 1 [RCV001106654]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108805]uncertain significance113180074531800745Human4name
28910011CV867855single nucleotide variantNM_001368894.2(PAX6):c.453G>A (p.Met151Ile)Anophthalmia-microphthalmia syndrome [RCV001108806]|Autosomal dominant keratitis [RCV001108809]|Foveal hypoplasia 1 [RCV001108807]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108808]uncertain significance113180080331800803Human4name
28900066CV867856single nucleotide variantNM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)Aniridia 1 [RCV001856403]|Anophthalmia-microphthalmia syndrome [RCV001103658]|Autosomal dominant keratitis [RCV001103659]pathogenic|benign|uncertain significance113180164331801643Human3name
38467330CV920825single nucleotide variantNM_001368894.2(PAX6):c.999C>G (p.Asp333Glu)not provided [RCV001200337]uncertain significance113179351331793513Humanname
38462463CV935492single nucleotide variantNM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)Aniridia 1 [RCV001212207]|not provided [RCV001546575]pathogenic113180072931800729Human1name
38462576CV947410deletionNM_001368894.2(PAX6):c.1009del (p.Thr337fs)Aniridia 1 [RCV001229734]pathogenic113179350331793503Human1name
38488542CV947411single nucleotide variantNM_001368894.2(PAX6):c.824G>A (p.Arg275Gln)Aniridia 1 [RCV001237982]likely pathogenic|uncertain significance113179378631793786Human1name
40903723CV976012single nucleotide variantNM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)Irido-corneo-trabecular dysgenesis [RCV001269465]pathogenic113179378231793782Human1name
126743440CV1020859single nucleotide variantNM_001368894.2(PAX6):c.1198A>G (p.Met400Val)Aniridia 1 [RCV002546794]|Coloboma of optic nerve [RCV001336773]uncertain significance113179073731790737Human3name
150412167CV1196067single nucleotide variantNM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys)not provided [RCV001573992]|not specified [RCV001727900]benign|likely benign113178993931789939Humanname
150507255CV1244519single nucleotide variantNM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)Aniridia 1 [RCV003771817]|Aniridia 1 [RCV004762168]|not provided [RCV001658768]pathogenic113179084531790845Human1name
151667610CV1346707single nucleotide variantNM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln)Aniridia 1 [RCV001990681]uncertain significance113179079331790793Human1name
151725478CV1395853single nucleotide variantNM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr)Aniridia 1 [RCV002050444]uncertain significance113179346931793469Human1name
151820167CV1402539single nucleotide variantNM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)Aniridia 1 [RCV001961874]uncertain significance113179085431790854Human1name
151715199CV1429886single nucleotide variantNM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu)Aniridia 1 [RCV002019062]uncertain significance113179080531790805Human1name
151814811CV1457966single nucleotide variantNM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile)Aniridia 1 [RCV001949992]uncertain significance113179081431790814Human1name
151826619CV1484640single nucleotide variantNM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg)Aniridia 1 [RCV001975226]pathogenic113179071031790710Human1name
151720162CV1488686single nucleotide variantNM_001368894.2(PAX6):c.1282A>G (p.Met428Val)Aniridia 1 [RCV002035667]|Inborn genetic diseases [RCV004045943]uncertain significance113178996331789963Human2name
152981708CV1677011single nucleotide variantNM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)Aniridia 1 [RCV003093992]|not specified [RCV002248079]benign|uncertain significance113179076931790769Human1name
155643946CV1708261single nucleotide variantNM_001368894.2(PAX6):c.1231A>T (p.Ile411Phe)Aniridia 1 [RCV002290250]uncertain significance113179001431790014Human1name
8557432CV18501single nucleotide variantNM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)Aniridia 1 [RCV000984456]|Cataracts, congenital, with late-onset corneal dystrophy [RCV000003626]pathogenic113179083531790835Human1name
8557435CV18504single nucleotide variantNM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg)Aniridia 1 [RCV000003630]pathogenic113179071031790710Human1name
8557444CV18513single nucleotide variantNM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)Aniridia 1 [RCV000003642]|Aniridia 1 [RCV000762838]|Aniridia 1 [RCV000805010]|Foveal hypoplasia 1 [RCV005234778]|Hypertelorism [RCV000785745]|not provided [RCV000327291]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|no classifications from unflagged records113178993531789935Human8name
8557448CV18517single nucleotide variantNM_001368894.2(PAX6):c.1213A>G (p.Thr405Ala)Optic nerve aplasia, bilateral [RCV000003647]pathogenic113179072231790722Human1name
155949589CV1869433single nucleotide variantNM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)Aniridia 1 [RCV003074067]uncertain significance113179079431790794Human1name
10045076CV188822single nucleotide variantNM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter)not provided [RCV000171191]likely pathogenic113179349231793492Humanname
156438381CV1947046single nucleotide variantNM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)Aniridia 1 [RCV003108322]uncertain significance113179349131793491Human1name
156110017CV2042441single nucleotide variantNM_001368894.2(PAX6):c.1168C>A (p.His390Asn)Aniridia 1 [RCV002785361]uncertain significance113179076731790767Human1name
156019899CV2046976single nucleotide variantNM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)Aniridia 1 [RCV002780597]likely benign113179350931793509Human1name
156249431CV2106484single nucleotide variantNM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)Aniridia 1 [RCV002933491]uncertain significance113179078131790781Human1name
156170188CV2133534single nucleotide variantNM_001368894.2(PAX6):c.1182C>G (p.His394Gln)Aniridia 1 [RCV003005362]uncertain significance113179075331790753Human1name
155958356CV2172883duplicationNM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)Aniridia 1 [RCV003032812]pathogenic113179083131790832Human1name
329395265CV2458252single nucleotide variantNM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)Aniridia 1 [RCV003779697]|Inborn genetic diseases [RCV003194280]uncertain significance113179077631790776Human2name
401860036CV2794453single nucleotide variantNM_001368894.2(PAX6):c.1072C>T (p.Gln358Ter)Aniridia 1 [RCV003387621]pathogenic113179344031793440Human1name
402511582CV3091236single nucleotide variantNM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)Aniridia 1 [RCV003789694]uncertain significance113179086031790860Human1name
402522301CV3092085single nucleotide variantNM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)Aniridia 1 [RCV003790532]uncertain significance113179075031790750Human1name
405034862CV3105809single nucleotide variantNM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)Aniridia 1 [RCV003796658]|not provided [RCV005000033]uncertain significance113179348131793481Human1name
405774592CV3374819single nucleotide variantNM_001368894.2(PAX6):c.1173G>A (p.Met391Ile)Inborn genetic diseases [RCV004502878]uncertain significance113179076231790762Human1name
408381213CV3501788single nucleotide variantNM_001368894.2(PAX6):c.1094C>A (p.Thr365Asn)not provided [RCV004729316]uncertain significance113179084131790841Humanname
596926815CV3530927single nucleotide variantNM_001368894.2(PAX6):c.1024G>T (p.Ala342Ser)not provided [RCV004778512]uncertain significance113179348831793488Humanname
597885699CV3866508duplicationNM_001368894.2(PAX6):c.89_101dup (p.Ser35fs)Aniridia 1 [RCV005217984]pathogenic113180274331802744Human1name
597871182CV3870025single nucleotide variantNM_001368894.2(PAX6):c.1019A>G (p.Tyr340Cys)Aniridia 1 [RCV005215755]uncertain significance113179349331793493Human1name
597906597CV3870186single nucleotide variantNM_001368894.2(PAX6):c.1307A>G (p.Gln436Arg)Aniridia 1 [RCV005221237]uncertain significance113178993831789938Human1name
597853466CV3873781single nucleotide variantNM_001368894.2(PAX6):c.1004C>G (p.Ala335Gly)Aniridia 1 [RCV005228566]uncertain significance113179350831793508Human1name
597844456CV3875772single nucleotide variantNM_001368894.2(PAX6):c.1185G>A (p.Met395Ile)Aniridia 1 [RCV005211854]uncertain significance113179075031790750Human1name
13208150CV424511single nucleotide variantNM_001368894.2(PAX6):c.1225G>T (p.Gly409Ter)Aniridia 1 [RCV000496022]pathogenic113179071031790710Human1name
13211929CV425921single nucleotide variantNM_001368894.2(PAX6):c.1078C>G (p.Pro360Ala)not provided [RCV000498109]uncertain significance113179085731790857Humanname
13706013CV537152single nucleotide variantNM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)Aniridia 1 [RCV000984460]|Aniridia 1 [RCV003767898]|not provided [RCV000658590]pathogenic|likely pathogenic113179080531790805Human1name
14746604CV656055single nucleotide variantNM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys)not provided [RCV000836145]|not specified [RCV001726343]benign|likely benign113178993631789936Humanname
15173840CV788978single nucleotide variantNM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)Aniridia 1 [RCV000984468]|not provided [RCV001200336]pathogenic|likely pathogenic113178993631789936Human1name
15173817CV788985single nucleotide variantNM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter)Aniridia 1 [RCV000984458]pathogenic113179083131790831Human1name
38463578CV919355single nucleotide variantNM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys)Coloboma of optic nerve [RCV001199173]uncertain significance113178994431789944Human2name
126743447CV1020858deletionNM_001368894.2(PAX6):c.*19_*21del (p.Ter437=)PAX6-related ocular dysgenesis [RCV005365751]pathogenic|benign113178991331789915Humanname , trait
150511639CV1229512deletionNM_001368894.2(PAX6):c.*20_*21del (p.Ter437=)Coloboma of optic nerve [RCV003451835]|PAX6-related ocular dysgenesis [RCV003327301]|not provided [RCV001637441]benign|likely benign113178991331789914Human2name , trait
156309274CV1878046duplicationNM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)Aniridia 1 [RCV003062354]pathogenic113180272731802728Human1name
407428010CV2845028microsatelliteNM_001368894.2(PAX6):c.102_103del (p.His34fs)Aniridia 1 [RCV004587515]likely pathogenic113180274231802743Humanname
12914099CV421852deletionNM_001368894.2(PAX6):c.201_204del (p.Ser68fs)not provided [RCV000494646]pathogenic113180175631801759Humanname
13508758CV485944duplicationNM_001368894.2(PAX6):c.280_283dup (p.Pro95fs)Aniridia 1 [RCV000584797]pathogenic113180167631801677Human1name
13508746CV485945deletionNM_001368894.2(PAX6):c.114_121del (p.Pro39fs)Aniridia 1 [RCV000584778]pathogenic113180272431802731Human1name
15173635CV789036microsatelliteNM_001368894.2(PAX6):c.200_201del (p.Val67fs)Aniridia 1 [RCV000984377]pathogenic113180175931801760Humanname
15173613CV789043duplicationNM_001368894.2(PAX6):c.115_116dup (p.Cys40fs)Aniridia 1 [RCV000984368]|Aniridia 1 [RCV002549622]pathogenic113180272831802729Human1name
15173607CV789044duplicationNM_001368894.2(PAX6):c.113_114dup (p.Pro39fs)Aniridia 1 [RCV000984365]pathogenic113180273031802731Human1name
15173597CV789045duplicationNM_001368894.2(PAX6):c.107_114dup (p.Pro39fs)Aniridia 1 [RCV000984361]pathogenic113180273031802731Human1name
26921917CV838295deletionNM_001368894.2(PAX6):c.231_237del (p.Gly78fs)Aniridia 1 [RCV001061424]pathogenic113180172331801729Human1name
127267370CV1062316deletionNM_001368894.2(PAX6):c.790_806del (p.Pro264fs)Aniridia 1 [RCV001381920]pathogenic113179403331794049Human1name
151809624CV1477613duplicationNM_001368894.2(PAX6):c.385_386dup (p.Asp129fs)Aniridia 1 [RCV001939153]pathogenic113180157331801574Human1name
153303586CV1690365microsatelliteNM_001368894.2(PAX6):c.734_735del (p.Arg245fs)not provided [RCV002269407]pathogenic113179410431794105Humanname
155644387CV1708665deletionNM_001368894.2(PAX6):c.801_807del (p.Ile268fs)Aniridia 1 [RCV002291198]pathogenic113179403231794038Human1name
8557429CV18498duplicationNM_001368894.2(PAX6):c.889_890dup (p.Ser297fs)Aniridia 1 [RCV000003623]pathogenic113179371931793720Human1name
156048601CV1867600microsatelliteNM_001368894.2(PAX6):c.844_848del (p.Glu282fs)not provided [RCV002510072]pathogenic113179376231793766Humanname
10047629CV190738duplicationNM_001368894.2(PAX6):c.921_936dup (p.Ile313fs)not provided [RCV000173670]pathogenic113179367331793674Humanname
597660386CV2742750microsatelliteNM_001368894.2(PAX6):c.844_848dup (p.Leu285fs)Aniridia 1 [RCV005002032]likely pathogenic113179376131793762Humanname
401943146CV2839983microsatelliteNM_001368894.2(PAX6):c.844_845dup (p.Glu283fs)not provided [RCV003456770]pathogenic113179376431793765Humanname
597653885CV3731365deletionNM_001368894.2(PAX6):c.412_415del (p.Asn138fs)not provided [RCV005001545]pathogenic113180084131800844Humanname
597866890CV3868991deletionNM_001368894.2(PAX6):c.546_558del (p.Pro183fs)Aniridia 1 [RCV005215112]pathogenic113180069831800710Human1name
598245445CV4002361duplicationNM_001368894.2(PAX6):c.313_316dup (p.Arg106fs)Inborn genetic diseases [RCV005383901]pathogenic113180164331801644Human1name
13208148CV424527deletionNM_001368894.2(PAX6):c.409_415del (p.Ile137fs)Aniridia 1 [RCV000496020]pathogenic113180084131800847Human1name
13208145CV424532duplicationNM_001368894.2(PAX6):c.333_336dup (p.Ala113fs)Aniridia 1 [RCV000496017]pathogenic113180162331801624Human1name
15173796CV788991deletionNM_001368894.2(PAX6):c.967_968del (p.Phe323fs)Aniridia 1 [RCV000984449]pathogenic113179354431793545Human1name
15173773CV788994deletionNM_001368894.2(PAX6):c.854_855del (p.Leu285fs)Aniridia 1 [RCV000984439]pathogenic113179375531793756Human1name
15173752CV789000microsatelliteNM_001368894.2(PAX6):c.753_754del (p.Phe252fs)Aniridia 1 [RCV000984430]|not provided [RCV002462242]pathogenic113179408531794086Humanname
15173741CV789003deletionNM_001368894.2(PAX6):c.677_680del (p.Arg226fs)Aniridia 1 [RCV000984425]pathogenic113179467431794677Human1name
15173708CV789012microsatelliteNM_001368894.2(PAX6):c.417_418del (p.Arg139fs)Aniridia 1 [RCV000984409]|Aniridia 1 [RCV002549624]pathogenic113180083831800839Humanname
15173677CV789020duplicationNM_001368894.2(PAX6):c.372_373dup (p.Val125fs)Aniridia 1 [RCV000984396]pathogenic113180158631801587Human1name
15173669CV789023deletionNM_001368894.2(PAX6):c.328_337del (p.Ser110fs)Aniridia 1 [RCV000984393]pathogenic113180162331801632Human1name
25318690CV805684microsatelliteNM_001368894.2(PAX6):c.866_867del (p.Arg289fs)not provided [RCV001008760]pathogenic113179374331793744Humanname
25317788CV805686deletionNM_001368894.2(PAX6):c.373_377del (p.Val125fs)not provided [RCV001008235]pathogenic113180158331801587Humanname
38491777CV956463deletionNM_001368894.2(PAX6):c.532_536del (p.Pro178fs)Aniridia 1 [RCV001239657]pathogenic113180072031800724Human1name
40904114CV976338duplicationNM_001368894.2(PAX6):c.463_464dup (p.Met156fs)not provided [RCV001269930]pathogenic113180079131800792Humanname
40904042CV976339duplicationNM_001368894.2(PAX6):c.330_331dup (p.Ile111fs)not provided [RCV001269870]pathogenic113180162831801629Humanname
151662703CV1333426duplicationNM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter)not provided [RCV001837618]pathogenic113180071431800715Humanname
13619079CV526296insertionNM_001368894.2(PAX6):c.578_579insC (p.Gln193fs)Aniridia 1 [RCV000635402]pathogenic113179477531794776Human1name
15173715CV789009insertionNM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)Aniridia 1 [RCV000984414]pathogenic113180074331800744Human1name
26902749CV838294insertionNM_001368894.2(PAX6):c.358_359insA (p.Leu120fs)Aniridia 1 [RCV001036028]pathogenic113180160131801602Human1name
38465708CV961905duplicationNM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter)Aniridia 1 [RCV001250256]pathogenic113180156631801567Human1name
156064651CV1878036microsatelliteNM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)Aniridia 1 [RCV003037377]pathogenic113179351031793511Humanname
10047813CV191325duplicationNM_001368894.2(PAX6):c.1280_1284dup (p.Ser429fs)not provided [RCV000174463]pathogenic113178996031789961Humanname
156059880CV2069179insertionNM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs)Aniridia 1 [RCV002846733]pathogenic113179475531794756Human1name
401830119CV2416796duplicationNM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)Aniridia 1 [RCV003326663]pathogenic113178996031789961Human1name
13208123CV424512microsatelliteNM_001368894.2(PAX6):c.1089_1092del (p.Ser363fs)Aniridia 1 [RCV000495987]pathogenic113179084331790846Humanname
13502232CV461049deletionNM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs)Aniridia 1 [RCV000541782]pathogenic113178998231789988Human1name
13474356CV461519duplicationNM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs)Aniridia 1 [RCV000548212]pathogenic113179082831790829Human1name
13611567CV514626deletionNM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs)not provided [RCV000627563]pathogenic113179084031790850Humanname
14698135CV625874deletionNM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)Coloboma of optic nerve [RCV000790520]|not specified [RCV002249497]pathogenic|uncertain significance113178993631789942Human2name
15173834CV788980deletionNM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs)Aniridia 1 [RCV000984467]pathogenic113178994131789950Human1name
15173818CV788983deletionNM_001368894.2(PAX6):c.1202_1205del (p.Gly401fs)Aniridia 1 [RCV000984461]pathogenic113179073031790733Human1name
15173811CV788984deletionNM_001368894.2(PAX6):c.1103_1112del (p.Tyr368fs)Aniridia 1 [RCV000984457]pathogenic113179082331790832Human1name
15173789CV788989deletionNM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs)Aniridia 1 [RCV000984446]pathogenic113179345131793454Human1name
38468948CV935491deletionNM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)Aniridia 1 [RCV001213235]pathogenic113179348231793488Human1name
13208138CV424544indelNM_001368894.2(PAX6):c.125_126delinsC (p.Ile42fs)Aniridia 1 [RCV000496003]pathogenic113180271931802720Humanname
14729213CV639956deletionNM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del)Aniridia 1 [RCV000816858]pathogenic|uncertain significance113180279131802796Human1name
150481513CV1265644deletionNM_001368894.2(PAX6):c.225del (p.Tyr74_Tyr75insTer)not provided [RCV001682639]pathogenic113180173531801735Humanname
15015180CV679779duplicationNM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)Aniridia 1 [RCV000853307]pathogenic113178993531789936Human1name
21072023CV791127deletionNM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?)Aniridia 1 [RCV000988511]uncertain significance113178993631789936Human1name
13805296CV567202indelNM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs)Aniridia 1 [RCV000685643]pathogenic113180273931802743Humanname
15173670CV789021indelNM_001368894.2(PAX6):c.367_368delinsCAG (p.Glu123fs)Aniridia 1 [RCV000984394]pathogenic113180159231801593Humanname
15173608CV789039deletionNM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del)Aniridia 1 [RCV000984366]likely pathogenic113180271431802731Human1name
26890334CV838292indelNM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter)Aniridia 1 [RCV001045981]pathogenic113180076031800761Humanname
15173738CV789004deletionNM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer)Aniridia 1 [RCV000984423]pathogenic113179472231794722Human1name
15173661CV789026deletionNM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer)Aniridia 1 [RCV000984390]|not provided [RCV001805951]pathogenic113180165931801659Human1name
25318473CV805687indelNM_001368894.2(PAX6):c.111delinsTAGCTCACA (p.Arg38fs)not provided [RCV001008638]pathogenic113180273431802734Humanname
151773686CV1461034deletionNM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)Aniridia 1 [RCV001871471]|Aniridia 1 [RCV002478248]uncertain significance113180069231800700Human2name
13208179CV424531indelNM_001368894.2(PAX6):c.335_340delinsGTTCA (p.Phe112fs)Aniridia 1 [RCV000496053]pathogenic113180162031801625Humanname
15173691CV789015deletionNM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del)Aniridia 1 [RCV000984401]likely pathogenic113180156131801569Human1name
155937026CV2114254indelNM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs)Aniridia 1 [RCV002904211]pathogenic113180071431800724Humanname
405162737CV3109992insertionNM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)Aniridia 1 [RCV003802351]pathogenic113180640231806403Human1name
13208182CV424524indelNM_001368894.2(PAX6):c.491_495delinsCCGGAAC (p.Asn164fs)Aniridia 1 [RCV000496057]pathogenic113180076131800765Humanname
11649840CV320062indelNM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG11p partial monosomy syndrome [RCV000389401]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000292766]|Anophthalmia [RCV000351665]|Autosomal dominant keratitis [RCV000289761]|Congenital aniridia [RCV005420059]|Foveal hypoplasia 1 [RCV000381819]|Irido-corneo-trabecular dysgenesis [RCV00uncertain significance113178501331785015Humanname
407574646CV3499657indelNM_001368894.2(PAX6):c.358_368delinsCCCCCCGTT (p.Leu120fs)not provided [RCV004720150]pathogenic113180159231801602Humanname
15173833CV788979indelNM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs)Aniridia 1 [RCV000984466]pathogenic113178993731789951Humanname
15173797CV788990deletionNM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer)Aniridia 1 [RCV000984451]pathogenic113179349131793492Human1name
15173786CV788988duplicationNM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer)Aniridia 1 [RCV000984445]pathogenic113179344731793448Human1name
155644693CV1708754indelNM_001368894.2(PAX6):c.38_41delinsAATCAGC (p.Gly13_Val14delinsGluSerAla)Congenital aniridia [RCV005420428]pathogenic113180280431802807Humanname