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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


496 records found for search term Fyco1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11591400CV290632single nucleotide variantNM_024513.4(FYCO1):c.*21C>TCataract 18 [RCV000328777]benign|uncertain significance34592174445921744Human1name
28869800CV889060single nucleotide variantNM_024513.4(FYCO1):c.*59C>GCataract 18 [RCV001145080]uncertain significance34592170645921706Human1name
11597463CV290625single nucleotide variantNM_024513.4(FYCO1):c.*709C>TCataract 18 [RCV000394773]uncertain significance34592105645921056Human1name
11590616CV290627single nucleotide variantNM_024513.4(FYCO1):c.*191G>ACataract 18 [RCV000320791]|not provided [RCV001709618]benign|likely benign34592157445921574Human1name
11594428CV290628single nucleotide variantNM_024513.4(FYCO1):c.*176C>TCataract 18 [RCV000359152]|not provided [RCV004694749]uncertain significance34592158945921589Human1name
11592962CV291517single nucleotide variantNM_024513.4(FYCO1):c.*724C>ACataract 18 [RCV000343780]likely benign|uncertain significance34592104145921041Human1name
11594096CV291519single nucleotide variantNM_024513.4(FYCO1):c.*505A>GCataract 18 [RCV000355664]|not provided [RCV004708781]benign34592126045921260Human1name
11598114CV291521single nucleotide variantNM_024513.4(FYCO1):c.*466C>TCataract 18 [RCV000401581]|not provided [RCV004708782]benign|likely benign34592129945921299Human1name
11646582CV291527single nucleotide variantNM_024513.4(FYCO1):c.*132C>TCataract 18 [RCV000271479]uncertain significance34592163345921633Human1name
11586578CV294746single nucleotide variantNM_024513.4(FYCO1):c.*810G>ACataract 18 [RCV000288811]uncertain significance34592095545920955Human1name
11587424CV294747single nucleotide variantNM_024513.4(FYCO1):c.*678A>GCataract 18 [RCV000294883]uncertain significance34592108745921087Human1name
11597527CV294751single nucleotide variantNM_024513.4(FYCO1):c.*654T>CCataract 18 [RCV000394766]|not provided [RCV004708780]benign34592111145921111Human1name
11587712CV294752single nucleotide variantNM_024513.4(FYCO1):c.*455A>GCataract 18 [RCV000297356]|not provided [RCV004708783]benign34592131045921310Human1name
11583604CV294753single nucleotide variantNM_024513.4(FYCO1):c.*308A>GCataract 18 [RCV000268040]|not provided [RCV004708785]benign34592145745921457Human1name
11585198CV294787single nucleotide variantNM_024513.4(FYCO1):c.-214C>TCataract 18 [RCV000279161]uncertain significance34599582345995823Human1name
11593519CV295144single nucleotide variantNM_024513.4(FYCO1):c.*662G>CCataract 18 [RCV000349835]|not provided [RCV004709961]benign34592110345921103Human1name
11651771CV295147single nucleotide variantNM_024513.4(FYCO1):c.*620G>ACataract 18 [RCV000300740]uncertain significance34592114545921145Human1name
11594662CV295148single nucleotide variantNM_024513.4(FYCO1):c.*315G>ACataract 18 [RCV000361483]|not provided [RCV004708784]benign34592145045921450Human1name
15142521CV695204single nucleotide variantNM_024513.4(FYCO1):c.56-4A>GCataract 18 [RCV001149811]likely benign|conflicting interpretations of pathogenicity|uncertain significance34598168045981680Human1name
28873827CV889057single nucleotide variantNM_024513.4(FYCO1):c.*988C>ACataract 18 [RCV001146934]uncertain significance34592077745920777Human1name
28880610CV889058single nucleotide variantNM_024513.4(FYCO1):c.*431A>GCataract 18 [RCV001149375]uncertain significance34592133445921334Human1name
28880615CV889059single nucleotide variantNM_024513.4(FYCO1):c.*342C>TCataract 18 [RCV001149376]uncertain significance34592142345921423Human1name
150459584CV1268363single nucleotide variantNM_024513.4(FYCO1):c.55+89C>Tnot provided [RCV001693360]benign34598476745984767Humanname
11585600CV290588single nucleotide variantNM_024513.4(FYCO1):c.*3527G>ACataract 18 [RCV000282039]uncertain significance34591823845918238Human1name
11597670CV290594single nucleotide variantNM_024513.4(FYCO1):c.*3498A>GCataract 18 [RCV000396820]|not provided [RCV004708772]benign34591826745918267Human1name
11660333CV290595single nucleotide variantNM_024513.4(FYCO1):c.*3191G>ACataract 18 [RCV000365979]uncertain significance34591857445918574Human1name
11596790CV290602single nucleotide variantNM_024513.4(FYCO1):c.*2757C>ACataract 18 [RCV000386700]uncertain significance34591900845919008Human1name
11588978CV290606single nucleotide variantNM_024513.4(FYCO1):c.*2060C>ACataract 18 [RCV000307365]benign|likely benign34591970545919705Human1name
11598181CV290608single nucleotide variantNM_024513.4(FYCO1):c.*1748C>TCataract 18 [RCV000402282]likely benign|uncertain significance34592001745920017Human1name
11583030CV290612single nucleotide variantNM_024513.4(FYCO1):c.*1445C>TCataract 18 [RCV000263707]|not provided [RCV004694748]uncertain significance34592032045920320Human1name
11582497CV290615single nucleotide variantNM_024513.4(FYCO1):c.*1285G>CCataract 18 [RCV000260159]uncertain significance34592048045920480Human1name
11596508CV290616single nucleotide variantNM_024513.4(FYCO1):c.*1056C>TCataract 18 [RCV000382991]benign|uncertain significance34592070945920709Human1name
11596708CV291470single nucleotide variantNM_024513.4(FYCO1):c.*3725A>GCataract 18 [RCV000385809]likely benign|uncertain significance34591804045918040Human1name
11588793CV291471single nucleotide variantNM_024513.4(FYCO1):c.*3439A>TCataract 18 [RCV000305643]benign|likely benign34591832645918326Human1name
11657560CV291472single nucleotide variantNM_024513.4(FYCO1):c.*3366T>GCataract 18 [RCV000341885]uncertain significance34591839945918399Human1name
11584086CV291474single nucleotide variantNM_024513.4(FYCO1):c.*3178G>TCataract 18 [RCV000271398]|not provided [RCV004708773]benign34591858745918587Human1name
11589022CV291476single nucleotide variantNM_024513.4(FYCO1):c.*3057G>ACataract 18 [RCV000307740]uncertain significance34591870845918708Human1name
11659934CV291482single nucleotide variantNM_024513.4(FYCO1):c.*2889C>ACataract 18 [RCV000362449]uncertain significance34591887645918876Human1name
11584863CV291488single nucleotide variantNM_024513.4(FYCO1):c.*2851C>TCataract 18 [RCV000277061]likely benign|uncertain significance34591891445918914Human1name
11647023CV291501single nucleotide variantNM_024513.4(FYCO1):c.*2741G>ACataract 18 [RCV000273607]uncertain significance34591902445919024Human1name
11596308CV291503deletionNM_024513.4(FYCO1):c.*2694delDevelopmental cataract [RCV000380510]uncertain significance34591907145919071Human2name
11597494CV291505single nucleotide variantNM_024513.4(FYCO1):c.*2406G>ACataract 18 [RCV000395051]|not provided [RCV004708778]benign34591935945919359Human1name
11664043CV291508single nucleotide variantNM_024513.4(FYCO1):c.*2286T>CCataract 18 [RCV000401859]uncertain significance34591947945919479Human1name
11653862CV291509single nucleotide variantNM_024513.4(FYCO1):c.*1655A>GDevelopmental cataract [RCV000313139]uncertain significance34592011045920110Human2name
11594041CV291510single nucleotide variantNM_024513.4(FYCO1):c.*1303C>GCataract 18 [RCV000354939]benign34592046245920462Human1name
11655069CV291516single nucleotide variantNM_024513.4(FYCO1):c.*1235C>ACataract 18 [RCV000322765]uncertain significance34592053045920530Human1name
11586168CV294727single nucleotide variantNM_024513.4(FYCO1):c.*2611A>GCataract 18 [RCV000286134]|not provided [RCV004708776]benign34591915445919154Human1name
11592649CV294728single nucleotide variantNM_024513.4(FYCO1):c.*2557G>ACataract 18 [RCV000340956]|not provided [RCV004708777]benign34591920845919208Human1name
11650320CV294729single nucleotide variantNM_024513.4(FYCO1):c.*2307C>GCataract 18 [RCV000292099]uncertain significance34591945845919458Human1name
11595999CV294731single nucleotide variantNM_024513.4(FYCO1):c.*1185A>TCataract 18 [RCV000377341]uncertain significance34592058045920580Human1name
11593511CV295094single nucleotide variantNM_024513.4(FYCO1):c.*3742T>ACataract 18 [RCV000349763]|not provided [RCV004708771]benign34591802345918023Human1name
11592284CV295095single nucleotide variantNM_024513.4(FYCO1):c.*3502A>TCataract 18 [RCV000337174]uncertain significance34591826345918263Human1name
11663709CV295099single nucleotide variantNM_024513.4(FYCO1):c.*3283G>ACataract 18 [RCV000398376]uncertain significance34591848245918482Human1name
11588300CV295105deletionNM_024513.4(FYCO1):c.*3257delDevelopmental cataract [RCV000301968]benign34591850845918508Human2name
11591740CV295106single nucleotide variantNM_024513.4(FYCO1):c.*2837C>GCataract 18 [RCV000332081]|not provided [RCV004708774]benign34591892845918928Human4name
11591740CV295106single nucleotide variantNM_024513.4(FYCO1):c.*2837C>GCataract 18 [RCV000332081]|not provided [RCV004708774]benign34591892845918929Human4name
11585193CV295113single nucleotide variantNM_024513.4(FYCO1):c.*2695A>TCataract 18 [RCV000279401]|not provided [RCV004708775]benign34591907045919070Human1name
11658174CV295114single nucleotide variantNM_024513.4(FYCO1):c.*2301A>GCataract 18 [RCV000346934]uncertain significance34591946445919464Human1name
11660530CV295123deletionNM_024513.4(FYCO1):c.*1499delDevelopmental cataract [RCV000367777]uncertain significance34592026645920266Human2name
11590408CV295130single nucleotide variantNM_024513.4(FYCO1):c.*1415G>ACataract 18 [RCV000318928]|not provided [RCV004708779]benign34592035045920350Human1name
11585706CV295131single nucleotide variantNM_024513.4(FYCO1):c.*1173C>TCataract 18 [RCV000282941]likely benign|uncertain significance34592059245920592Human1name
11655857CV295137single nucleotide variantNM_024513.4(FYCO1):c.*1149C>GCataract 18 [RCV000328664]uncertain significance34592061645920616Human1name
28875376CV889037single nucleotide variantNM_024513.4(FYCO1):c.*3691A>CCataract 18 [RCV001147630]uncertain significance34591807445918074Human1name
28875380CV889038single nucleotide variantNM_024513.4(FYCO1):c.*3583C>TCataract 18 [RCV001147631]uncertain significance34591818245918182Human1name
28885812CV889039single nucleotide variantNM_024513.4(FYCO1):c.*3560C>ACataract 18 [RCV001150975]likely benign34591820545918205Human1name
28885816CV889040single nucleotide variantNM_024513.4(FYCO1):c.*3512T>ACataract 18 [RCV001150976]uncertain significance34591825345918253Human1name
28885819CV889041single nucleotide variantNM_024513.4(FYCO1):c.*3326G>ACataract 18 [RCV001150977]uncertain significance34591843945918439Human1name
28869294CV889042single nucleotide variantNM_024513.4(FYCO1):c.*3278G>ACataract 18 [RCV001144866]uncertain significance34591848745918487Human1name
28869296CV889043single nucleotide variantNM_024513.4(FYCO1):c.*3063G>ACataract 18 [RCV001144867]uncertain significance34591870245918702Human1name
28869298CV889044single nucleotide variantNM_024513.4(FYCO1):c.*3006G>ACataract 18 [RCV001144868]uncertain significance34591875945918759Human1name
28873636CV889045single nucleotide variantNM_024513.4(FYCO1):c.*2771A>GCataract 18 [RCV001146846]uncertain significance34591899445918994Human1name
28875594CV889046single nucleotide variantNM_024513.4(FYCO1):c.*2343G>ACataract 18 [RCV001147738]uncertain significance34591942245919422Human1name
28875596CV889047single nucleotide variantNM_024513.4(FYCO1):c.*2275G>ACataract 18 [RCV001147739]uncertain significance34591949045919490Human1name
28875598CV889048single nucleotide variantNM_024513.4(FYCO1):c.*2238C>ACataract 18 [RCV001147740]likely benign34591952745919527Human1name
28886176CV889049single nucleotide variantNM_024513.4(FYCO1):c.*1686A>GCataract 18 [RCV001151079]likely benign34592007945920079Human1name
28886179CV889050single nucleotide variantNM_024513.4(FYCO1):c.*1419C>TCataract 18 [RCV001151080]benign34592034645920346Human1name
28886184CV889051single nucleotide variantNM_024513.4(FYCO1):c.*1411G>ACataract 18 [RCV001151081]uncertain significance34592035445920354Human1name
28869566CV889052single nucleotide variantNM_024513.4(FYCO1):c.*1398G>ACataract 18 [RCV001144974]uncertain significance34592036745920367Human1name
28869569CV889053single nucleotide variantNM_024513.4(FYCO1):c.*1349T>CCataract 18 [RCV001144975]uncertain significance34592041645920416Human1name
28869571CV889054single nucleotide variantNM_024513.4(FYCO1):c.*1270T>CCataract 18 [RCV001144976]uncertain significance34592049545920495Human1name
28869574CV889055single nucleotide variantNM_024513.4(FYCO1):c.*1211C>ACataract 18 [RCV001144977]uncertain significance34592055445920554Human1name
28873824CV889056single nucleotide variantNM_024513.4(FYCO1):c.*1074C>TCataract 18 [RCV001146933]uncertain significance34592069145920691Human1name
150338948CV1167294single nucleotide variantNM_024513.4(FYCO1):c.539+35A>Cnot provided [RCV001533917]benign34597305345973053Humanname
150429372CV1186609single nucleotide variantNM_024513.4(FYCO1):c.289-56C>Tnot provided [RCV001563511]likely benign34597540145975401Humanname
150500359CV1212198single nucleotide variantNM_024513.4(FYCO1):c.56-262A>Gnot provided [RCV001594552]likely benign34598193845981938Humanname
150474084CV1272277deletionNM_024513.4(FYCO1):c.55+138delnot provided [RCV001695815]benign34598471845984718Humanname
150461775CV1275998single nucleotide variantNM_024513.4(FYCO1):c.630+98G>Cnot provided [RCV001709936]benign34596957745969577Humanname
152046556CV1519635single nucleotide variantNM_024513.4(FYCO1):c.3270-6C>TCataract 18 [RCV002145148]likely benign34596239845962398Human1name
153301725CV1687913single nucleotide variantNM_024513.4(FYCO1):c.395+44A>Gnot provided [RCV002265139]likely benign34597519545975195Humanname
11548744CV251167single nucleotide variantNM_024513.4(FYCO1):c.289-14T>ACataract 18 [RCV000294396]|not provided [RCV001668585]|not specified [RCV000249497]benign34597535945975359Human1name
405265685CV3215597single nucleotide variantNM_024513.4(FYCO1):c.3270-2A>CFYCO1-related disorder [RCV003946784]pathogenic34596239445962394Humanname , trait , alternate_id
597924449CV3808645single nucleotide variantNM_024513.4(FYCO1):c.3269+1G>CCataract 18 [RCV005156159]likely pathogenic34596433545964335Human1name
13520896CV495199single nucleotide variantNM_024513.4(FYCO1):c.3150+1G>TCataract 18 [RCV001613393]|not provided [RCV000599010]pathogenic|likely pathogenic34596503245965032Human1name
28874689CV891653single nucleotide variantNM_024513.4(FYCO1):c.630+15G>TCataract 18 [RCV001147320]benign34596966045969660Human1name
41408218CV980777single nucleotide variantNM_024513.4(FYCO1):c.4362-2A>GCataract 18 [RCV001318249]|not provided [RCV001281631]pathogenic|uncertain significance34592184245921842Human1name
150332717CV1168995single nucleotide variantNM_024513.4(FYCO1):c.3438-29C>TCataract 18 [RCV001702917]|not provided [RCV001537006]benign34595957145959571Human1name
150423473CV1183356single nucleotide variantNM_024513.4(FYCO1):c.3269+61G>Anot provided [RCV001555368]likely benign34596427545964275Humanname
150415039CV1190056single nucleotide variantNM_024513.4(FYCO1):c.630+144G>Anot provided [RCV001567807]likely benign34596953145969531Humanname
150513953CV1210784single nucleotide variantNM_024513.4(FYCO1):c.163-130A>Cnot provided [RCV001598825]benign34597996045979960Humanname
150503576CV1212510single nucleotide variantNM_024513.4(FYCO1):c.3057+67A>Gnot provided [RCV001595385]benign34596621045966210Humanname
150457021CV1235283single nucleotide variantNM_024513.4(FYCO1):c.4040+41A>Gnot provided [RCV001648699]benign34593640745936407Humanname
150437060CV1235515single nucleotide variantNM_024513.4(FYCO1):c.396-320A>Gnot provided [RCV001644301]benign34597355145973551Humanname
150432279CV1236707single nucleotide variantNM_024513.4(FYCO1):c.162+229C>Tnot provided [RCV001642112]benign34598134145981341Humanname
150470635CV1248034single nucleotide variantNM_024513.4(FYCO1):c.162+298C>Tnot provided [RCV001671070]benign34598127245981272Humanname
150442813CV1249180single nucleotide variantNM_024513.4(FYCO1):c.289-107G>Anot provided [RCV001666612]benign34597545245975452Humanname
150437340CV1249853single nucleotide variantNM_024513.4(FYCO1):c.4040+74G>Anot provided [RCV001665767]benign34593637445936374Humanname
150468321CV1257037single nucleotide variantNM_024513.4(FYCO1):c.540-179T>Cnot provided [RCV001670683]benign34596994445969944Humanname
150448573CV1260707single nucleotide variantNM_024513.4(FYCO1):c.395+132A>Cnot provided [RCV001680375]benign34597510745975107Humanname
150438352CV1264811single nucleotide variantNM_024513.4(FYCO1):c.163-237A>Cnot provided [RCV001678804]benign34598006745980067Humanname
150440054CV1266859single nucleotide variantNM_024513.4(FYCO1):c.395+267C>Tnot provided [RCV001690295]benign34597497245974972Humanname
150499462CV1270826single nucleotide variantNM_024513.4(FYCO1):c.4251+71G>Anot provided [RCV001689376]benign34593100045931000Humanname
152125825CV1532395single nucleotide variantNM_024513.4(FYCO1):c.3944+18C>GCataract 18 [RCV002118439]benign34595523145955231Human1name
156040353CV2089611single nucleotide variantNM_024513.4(FYCO1):c.3799+12G>ACataract 18 [RCV002867417]likely benign34595839645958396Human1name
11543327CV251151single nucleotide variantNM_024513.4(FYCO1):c.3587+15C>TCataract 18 [RCV000398342]|not provided [RCV001668586]|not specified [RCV000242312]benign34595937845959378Human1name
28869803CV891650single nucleotide variantNM_024513.4(FYCO1):c.4251+11G>ACataract 18 [RCV001145081]uncertain significance34593106045931060Human1name
28870024CV891651single nucleotide variantNM_024513.4(FYCO1):c.3269+10A>TCataract 18 [RCV001145184]uncertain significance34596432645964326Human1name
28870031CV891652single nucleotide variantNM_024513.4(FYCO1):c.3151-12G>ACataract 18 [RCV001145186]uncertain significance34596446645964466Human1name
150334169CV1171123single nucleotide variantNM_024513.4(FYCO1):c.3269+255G>Cnot provided [RCV001539839]likely benign34596408145964081Humanname
150425222CV1183354single nucleotide variantNM_024513.4(FYCO1):c.3945-259G>Tnot provided [RCV001557724]likely benign34593680245936802Humanname
150426757CV1186608single nucleotide variantNM_024513.4(FYCO1):c.3270-123T>Cnot provided [RCV001559982]likely benign34596251545962515Humanname
150415469CV1197100single nucleotide variantNM_024513.4(FYCO1):c.3944+302C>Tnot provided [RCV001575413]likely benign34595494745954947Humanname
150501574CV1213391single nucleotide variantNM_024513.4(FYCO1):c.3150+286T>Cnot provided [RCV001594803]benign34596474745964747Humanname
150513761CV1213874deletionNM_024513.4(FYCO1):c.4251+231delnot provided [RCV001598610]likely benign34593084045930840Humanname
150433215CV1216836single nucleotide variantNM_024513.4(FYCO1):c.4362-165C>Anot provided [RCV001608738]benign34592200545922005Humanname
150469315CV1219053single nucleotide variantNM_024513.4(FYCO1):c.3437+180C>Tnot provided [RCV001614805]benign34596204545962045Humanname
150483313CV1223569single nucleotide variantNM_024513.4(FYCO1):c.3944+152G>Anot provided [RCV001617283]benign34595509745955097Humanname
150435298CV1233825single nucleotide variantNM_024513.4(FYCO1):c.3945-108C>Anot provided [RCV001643952]benign34593665145936651Humanname
150459355CV1236084single nucleotide variantNM_024513.4(FYCO1):c.3944+258C>Tnot provided [RCV001649055]benign34595499145954991Humanname
150492698CV1238529single nucleotide variantNM_024513.4(FYCO1):c.3057+281C>Tnot provided [RCV001655073]benign34596599645965996Humanname
150491685CV1239319single nucleotide variantNM_024513.4(FYCO1):c.3151-212T>Cnot provided [RCV001654887]benign34596466645964666Humanname
150464914CV1241401single nucleotide variantNM_024513.4(FYCO1):c.3944+240T>Cnot provided [RCV001649912]benign34595500945955009Humanname
150434374CV1243935single nucleotide variantNM_024513.4(FYCO1):c.3944+158C>Tnot provided [RCV001665142]benign34595509145955091Humanname
150470425CV1247989single nucleotide variantNM_024513.4(FYCO1):c.3150+184G>Cnot provided [RCV001671025]benign34596484945964849Humanname
150450676CV1254141single nucleotide variantNM_024513.4(FYCO1):c.3944+222A>Cnot provided [RCV001667779]benign34595502745955027Humanname
150466794CV1255798single nucleotide variantNM_024513.4(FYCO1):c.3437+221A>Gnot provided [RCV001670432]benign34596200445962004Humanname
150493722CV1257613single nucleotide variantNM_024513.4(FYCO1):c.3150+256G>Anot provided [RCV001675286]benign34596477745964777Humanname
150470145CV1259776single nucleotide variantNM_024513.4(FYCO1):c.3587+157A>Cnot provided [RCV001684078]benign34595923645959236Humanname
150477469CV1262506single nucleotide variantNM_024513.4(FYCO1):c.4361+189G>Anot provided [RCV001685319]benign34592346745923467Humanname
150486341CV1274037single nucleotide variantNM_024513.4(FYCO1):c.-112-185G>Tnot provided [RCV001698916]benign34598520745985207Humanname
150466793CV1277463single nucleotide variantNM_024513.4(FYCO1):c.3438-193C>Tnot provided [RCV001710758]benign34595973545959735Humanname
150446600CV1278338single nucleotide variantNM_024513.4(FYCO1):c.-112-127C>Anot provided [RCV001707481]benign34598514945985149Humanname
150455669CV1278387single nucleotide variantNM_024513.4(FYCO1):c.4252-129C>Tnot provided [RCV001709002]benign34592389445923894Humanname
150482145CV1279922single nucleotide variantNM_024513.4(FYCO1):c.3150+240G>Anot provided [RCV001714976]benign34596479345964793Humanname
11595449CV290607microsatelliteNM_024513.4(FYCO1):c.*1806ATC[1]Developmental cataract [RCV000370828]uncertain significance34591995445919956Humanname
11635321CV294724duplicationNM_024513.4(FYCO1):c.*2693_*2694dupDevelopmental cataract [RCV000334412]benign34591907045919071Human2name
11635228CV290603insertionNM_024513.4(FYCO1):c.*2695_*2696insTDevelopmental cataract [RCV000319077]uncertain significance34591906945919070Human2name
127269848CV1092508deletionNM_024513.4(FYCO1):c.3438-9_3438-8delCataract 18 [RCV001441217]|FYCO1-related disorder [RCV003946153]likely benign34595955045959551Human1name , trait , alternate_id
11595722CV291502insertionNM_024513.4(FYCO1):c.*2695_*2696insTTDevelopmental cataract [RCV000373775]|not provided [RCV004694747]uncertain significance34591906945919070Human2name
11551062CV251168single nucleotide variantNM_024513.4(FYCO1):c.267C>A (p.Arg89=)Cataract 18 [RCV000337740]|not provided [RCV000836671]|not specified [RCV000252557]benign34597972645979726Human1name
11664367CV294785single nucleotide variantNM_024513.4(FYCO1):c.150G>A (p.Glu50=)Cataract 18 [RCV000405125]uncertain significance34598158245981582Human1name
15115127CV691424single nucleotide variantNM_024513.4(FYCO1):c.186C>T (p.Thr62=)Cataract 18 [RCV001149809]|FYCO1-related disorder [RCV003938325]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34597980745979807Human1name , trait , alternate_id
15176531CV708872single nucleotide variantNM_024513.4(FYCO1):c.108G>A (p.Thr36=)Cataract 18 [RCV001480465]likely benign34598162445981624Human1name
28877131CV889094single nucleotide variantNM_024513.4(FYCO1):c.297A>T (p.Thr99=)Cataract 18 [RCV001148254]uncertain significance34597533745975337Human1name
150467625CV1240910deletionNM_024513.4(FYCO1):c.395+164_395+167delnot provided [RCV001650368]benign34597507245975075Humanname
152160205CV1642402single nucleotide variantNM_024513.4(FYCO1):c.816G>A (p.Glu272=)Cataract 18 [RCV002103654]likely benign34596851845968518Human1name
156121192CV2039871single nucleotide variantNM_024513.4(FYCO1):c.44G>C (p.Arg15Pro)Cataract 18 [RCV002785798]uncertain significance34598486745984867Human1name
11550290CV251165single nucleotide variantNM_024513.4(FYCO1):c.819A>G (p.Gln273=)Cataract 18 [RCV000365307]|not provided [RCV000836724]|not specified [RCV000251552]benign34596851545968515Human1name
401782933CV2716050single nucleotide variantNM_024513.4(FYCO1):c.80A>T (p.Glu27Val)Inborn genetic diseases [RCV003309234]uncertain significance34598165245981652Human1name
404997517CV2868175single nucleotide variantNM_024513.4(FYCO1):c.396T>C (p.Ser132=)Cataract 18 [RCV003525801]uncertain significance34597323145973231Human1name
405199345CV3049160single nucleotide variantNM_024513.4(FYCO1):c.417C>T (p.Ser139=)Cataract 18 [RCV003641964]likely benign34597321045973210Human1name
402523527CV3175843single nucleotide variantNM_024513.4(FYCO1):c.990G>A (p.Glu330=)Cataract 18 [RCV003879943]likely benign34596834445968344Human1name
405730608CV3257774single nucleotide variantNM_024513.4(FYCO1):c.84T>A (p.Phe28Leu)Inborn genetic diseases [RCV004389947]uncertain significance34598164845981648Human1name
597670548CV3676879single nucleotide variantNM_024513.4(FYCO1):c.44G>A (p.Arg15Gln)Inborn genetic diseases [RCV004980264]uncertain significance34598486745984867Human1name
597682757CV3676890single nucleotide variantNM_024513.4(FYCO1):c.56A>G (p.Asp19Gly)Inborn genetic diseases [RCV004983601]uncertain significance34598167645981676Human1name
15114641CV734078single nucleotide variantNM_024513.4(FYCO1):c.333C>T (p.Ser111=)not provided [RCV000894890]likely benign34597530145975301Humanname
28881650CV889085single nucleotide variantNM_024513.4(FYCO1):c.933T>C (p.Thr311=)Cataract 18 [RCV001149694]uncertain significance34596840145968401Human1name
28874683CV889088single nucleotide variantNM_024513.4(FYCO1):c.708A>G (p.Arg236=)Cataract 18 [RCV001147318]uncertain significance34596862645968626Human1name
28874685CV889089single nucleotide variantNM_024513.4(FYCO1):c.678C>T (p.Asn226=)Cataract 18 [RCV001147319]|FYCO1-related disorder [RCV004743301]likely benign|conflicting interpretations of pathogenicity|uncertain significance34596865645968656Human1name , trait , alternate_id
28874691CV889090single nucleotide variantNM_024513.4(FYCO1):c.546G>A (p.Thr182=)Cataract 18 [RCV001147321]|Inborn genetic diseases [RCV004619525]likely benign|conflicting interpretations of pathogenicity|uncertain significance34596975945969759Human2name
127235690CV1092509single nucleotide variantNM_024513.4(FYCO1):c.2199C>T (p.Leu733=)Cataract 18 [RCV001433166]likely benign34596713545967135Human1name
151849320CV1368308single nucleotide variantNM_024513.4(FYCO1):c.217T>C (p.Tyr73His)Cataract 18 [RCV001978712]uncertain significance34597977645979776Human1name
152138348CV1565000single nucleotide variantNM_024513.4(FYCO1):c.2622G>A (p.Gln874=)Cataract 18 [RCV002083821]benign34596671245966712Human1name
152086997CV1578253single nucleotide variantNM_024513.4(FYCO1):c.1425G>A (p.Glu475=)Cataract 18 [RCV002171305]likely benign34596790945967909Human1name
152102206CV1590687single nucleotide variantNM_024513.4(FYCO1):c.1677G>A (p.Pro559=)Cataract 18 [RCV002115491]likely benign34596765745967657Human1name
152058702CV1597259single nucleotide variantNM_024513.4(FYCO1):c.2334G>A (p.Leu778=)Cataract 18 [RCV002128088]likely benign34596700045967000Human1name
156150956CV2197821single nucleotide variantNM_024513.4(FYCO1):c.260G>A (p.Gly87Glu)Inborn genetic diseases [RCV002641857]uncertain significance34597973345979733Human1name
329354653CV2444630single nucleotide variantNM_024513.4(FYCO1):c.293G>A (p.Arg98Gln)Inborn genetic diseases [RCV003202426]uncertain significance34597534145975341Human1name
11545159CV251158single nucleotide variantNM_024513.4(FYCO1):c.2739C>T (p.Cys913=)Cataract 18 [RCV000280102]|not provided [RCV000836727]|not specified [RCV000244760]benign34596659545966595Human1name
11546450CV251162single nucleotide variantNM_024513.4(FYCO1):c.1335G>A (p.Leu445=)Cataract 18 [RCV000328833]|not provided [RCV000836725]|not specified [RCV000246478]benign34596799945967999Human1name
11544095CV251163single nucleotide variantNM_024513.4(FYCO1):c.1206G>A (p.Glu402=)Cataract 18 [RCV000538035]|not provided [RCV000836839]|not specified [RCV000243330]benign34596812845968128Human1name
401743055CV2694044single nucleotide variantNM_024513.4(FYCO1):c.263T>C (p.Ile88Thr)Inborn genetic diseases [RCV003274988]uncertain significance34597973045979730Human1name
401922210CV2827320single nucleotide variantNM_024513.4(FYCO1):c.2142G>A (p.Glu714=)not provided [RCV003433544]likely benign34596719245967192Humanname
405010620CV2889599single nucleotide variantNM_024513.4(FYCO1):c.2328G>A (p.Ala776=)Cataract 18 [RCV003527004]likely benign34596700645967006Human1name
11661553CV290653single nucleotide variantNM_024513.4(FYCO1):c.1464A>T (p.Ala488=)Cataract 18 [RCV000377733]uncertain significance34596787045967870Human1name
11589648CV291565single nucleotide variantNM_024513.4(FYCO1):c.1887C>T (p.Val629=)Cataract 18 [RCV000312403]likely benign|conflicting interpretations of pathogenicity|uncertain significance34596744745967447Human1name
11597468CV291592single nucleotide variantNM_024513.4(FYCO1):c.1098C>T (p.Ala366=)Cataract 18 [RCV000394795]|FYCO1-related disorder [RCV003912455]likely benign|uncertain significance34596823645968236Human1name , trait , alternate_id
11592755CV294767single nucleotide variantNM_024513.4(FYCO1):c.2718T>C (p.Ala906=)Cataract 18 [RCV000870594]|FYCO1-related disorder [RCV003910357]|not provided [RCV001597110]benign|likely benign|uncertain significance34596661645966616Human1name , trait , alternate_id
11586561CV294777single nucleotide variantNM_024513.4(FYCO1):c.1248G>A (p.Lys416=)Cataract 18 [RCV000288925]likely benign|conflicting interpretations of pathogenicity|uncertain significance34596808645968086Human1name
11589285CV295170single nucleotide variantNM_024513.4(FYCO1):c.2109G>A (p.Gln703=)Cataract 18 [RCV000309760]benign|likely benign|uncertain significance34596722545967225Human1name
11592927CV295177single nucleotide variantNM_024513.4(FYCO1):c.2037G>A (p.Ala679=)Cataract 18 [RCV000343859]conflicting interpretations of pathogenicity|uncertain significance34596729745967297Human1name
405259301CV3194711single nucleotide variantNM_024513.4(FYCO1):c.2766G>A (p.Val922=)FYCO1-related disorder [RCV003894103]likely benign34596656845966568Humanname , trait , alternate_id
405259592CV3194877single nucleotide variantNM_024513.4(FYCO1):c.2673C>T (p.His891=)FYCO1-related disorder [RCV003894263]likely benign34596666145966661Humanname , trait , alternate_id
405261882CV3216591single nucleotide variantNM_024513.4(FYCO1):c.1602G>A (p.Glu534=)FYCO1-related disorder [RCV003944662]likely benign34596773245967732Humanname , trait , alternate_id
405287670CV3217856single nucleotide variantNM_024513.4(FYCO1):c.2761C>A (p.Arg921=)FYCO1-related disorder [RCV003981979]likely benign34596657345966573Humanname , trait , alternate_id
405731447CV3257762single nucleotide variantNM_024513.4(FYCO1):c.136T>C (p.Ser46Pro)Inborn genetic diseases [RCV004389935]uncertain significance34598159645981596Human1name
597682742CV3676887single nucleotide variantNM_024513.4(FYCO1):c.209A>T (p.Tyr70Phe)Inborn genetic diseases [RCV004983599]uncertain significance34597978445979784Human1name
597976240CV3829260single nucleotide variantNM_024513.4(FYCO1):c.1815G>T (p.Val605=)Cataract 18 [RCV005169709]likely benign34596751945967519Human1name
597964606CV3830555single nucleotide variantNM_024513.4(FYCO1):c.2937G>A (p.Gln979=)Cataract 18 [RCV005164695]likely benign34596639745966397Human1name
597944259CV3847841single nucleotide variantNM_024513.4(FYCO1):c.104T>C (p.Ile35Thr)Cataract 18 [RCV005188570]uncertain significance34598162845981628Human1name
12905923CV413629single nucleotide variantNM_024513.4(FYCO1):c.265C>T (p.Arg89Cys)FYCO1-related disorder [RCV003403126]|not provided [RCV000488185]likely pathogenic|uncertain significance34597972845979728Human1name , trait , alternate_id
13501385CV452432single nucleotide variantNM_024513.4(FYCO1):c.2844G>A (p.Glu948=)Cataract 18 [RCV001418794]likely benign34596649045966490Human1name
13480141CV452436single nucleotide variantNM_024513.4(FYCO1):c.280A>G (p.Ile94Val)Cataract 18 [RCV000528394]uncertain significance34597971345979713Human1name
13492570CV452662single nucleotide variantNM_024513.4(FYCO1):c.241G>A (p.Val81Met)Cataract 18 [RCV000535057]uncertain significance34597975245979752Human1name
13616543CV519310single nucleotide variantNM_024513.4(FYCO1):c.1659C>T (p.Leu553=)Cataract 18 [RCV000644760]likely benign34596767545967675Human1name
15117533CV691423single nucleotide variantNM_024513.4(FYCO1):c.2814G>A (p.Glu938=)Cataract 18 [RCV000873517]|not provided [RCV001796292]benign|likely benign34596652045966520Human1name
15157806CV748282single nucleotide variantNM_024513.4(FYCO1):c.2865G>A (p.Gln955=)Cataract 18 [RCV001409528]likely benign34596646945966469Human1name
15098971CV748283single nucleotide variantNM_024513.4(FYCO1):c.1119C>A (p.Ala373=)not provided [RCV000914368]likely benign34596821545968215Humanname
15122589CV781683single nucleotide variantNM_024513.4(FYCO1):c.2475C>T (p.Thr825=)not provided [RCV000979673]likely benign34596685945966859Humanname
28881318CV889081single nucleotide variantNM_024513.4(FYCO1):c.2121C>T (p.Gly707=)Cataract 18 [RCV001149589]uncertain significance34596721345967213Human1name
28882038CV889095single nucleotide variantNM_024513.4(FYCO1):c.107C>T (p.Thr36Met)Cataract 18 [RCV001149810]|Inborn genetic diseases [RCV004032774]uncertain significance34598162545981625Human2name
40814743CV970769duplicationNM_024513.4(FYCO1):c.793dup (p.Ala265fs)Cataract 18 [RCV001262245]likely pathogenic34596854045968541Human1name
150498960CV1209006microsatelliteNM_024513.4(FYCO1):c.3800-239_3800-238delnot provided [RCV001594223]likely benign34595563145955632Humanname
150463785CV1252572deletionNM_024513.4(FYCO1):c.4040+127_4040+129delnot provided [RCV001669895]benign34593631945936321Humanname
150544276CV1313240single nucleotide variantNM_024513.4(FYCO1):c.823C>T (p.Gln275Ter)Cataract 18 [RCV001783319]pathogenic34596851145968511Humanname
150544278CV1313241single nucleotide variantNM_024513.4(FYCO1):c.524G>A (p.Trp175Ter)Cataract 18 [RCV001783320]pathogenic34597310345973103Human1name
150540581CV1314706deletionNM_024513.4(FYCO1):c.1561del (p.Gln521fs)Cataract 18 [RCV001781139]likely pathogenic34596777345967773Humanname
151829505CV1384256single nucleotide variantNM_024513.4(FYCO1):c.575G>A (p.Trp192Ter)Cataract 18 [RCV001955541]pathogenic34596973045969730Human1name
151883119CV1475033single nucleotide variantNM_024513.4(FYCO1):c.364C>G (p.Gln122Glu)Cataract 18 [RCV001941439]|not provided [RCV002264434]uncertain significance34597527045975270Human1name
156407236CV1875056single nucleotide variantNM_024513.4(FYCO1):c.590G>T (p.Arg197Leu)Cataract 18 [RCV003070783]uncertain significance34596971545969715Human1name
156162502CV1925567deletionNM_024513.4(FYCO1):c.2345del (p.Gln782fs)Cataract 18 [RCV002664304]pathogenic34596698945966989Human1name
156352514CV2118740single nucleotide variantNM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)Cataract 18 [RCV002966404]|FYCO1-related disorder [RCV003418669]uncertain significance34597320245973202Human1name , trait , alternate_id
155951399CV2238771single nucleotide variantNM_024513.4(FYCO1):c.920C>T (p.Ala307Val)Inborn genetic diseases [RCV002753085]uncertain significance34596841445968414Human1name
155995464CV2259079single nucleotide variantNM_024513.4(FYCO1):c.803G>T (p.Ser268Ile)Inborn genetic diseases [RCV002778920]uncertain significance34596853145968531Human1name
156212272CV2259940single nucleotide variantNM_024513.4(FYCO1):c.889G>A (p.Glu297Lys)Inborn genetic diseases [RCV002804155]uncertain significance34596844545968445Human1name
11542779CV251148single nucleotide variantNM_024513.4(FYCO1):c.4086G>A (p.Glu1362=)Cataract 18 [RCV001087165]|not provided [RCV000826993]|not specified [RCV000241595]benign|likely benign34593123645931236Human1name
11549005CV251149single nucleotide variantNM_024513.4(FYCO1):c.3924C>T (p.Leu1308=)Cataract 18 [RCV000334516]|not provided [RCV000836675]|not specified [RCV000249848]benign34595526945955269Human1name
11545701CV251150single nucleotide variantNM_024513.4(FYCO1):c.3705C>A (p.Gly1235=)Cataract 18 [RCV000339886]|FYCO1-related disorder [RCV003891970]benign|likely benign|uncertain significance34595850245958502Human1name , trait , alternate_id
11545607CV251153single nucleotide variantNM_024513.4(FYCO1):c.3330C>T (p.Cys1110=)not specified [RCV000245370]likely benign34596233245962332Humanname
11543788CV251164single nucleotide variantNM_024513.4(FYCO1):c.962G>C (p.Gly321Ala)Cataract 18 [RCV000352891]|not provided [RCV000836673]|not specified [RCV000242928]benign34596837245968372Human1name
11546699CV251166single nucleotide variantNM_024513.4(FYCO1):c.749G>A (p.Arg250Gln)Cataract 18 [RCV000325885]|not provided [RCV000836672]|not specified [RCV000246802]benign34596858545968585Human1name
401758898CV2705231single nucleotide variantNM_024513.4(FYCO1):c.875C>T (p.Thr292Ile)Inborn genetic diseases [RCV003256650]uncertain significance34596845945968459Human1name
401773242CV2709204single nucleotide variantNM_024513.4(FYCO1):c.566C>A (p.Ala189Asp)Inborn genetic diseases [RCV003262132]uncertain significance34596973945969739Human1name
401861371CV2759536single nucleotide variantNM_024513.4(FYCO1):c.559T>C (p.Ser187Pro)Inborn genetic diseases [RCV003342591]uncertain significance34596974645969746Human1name
11662444CV290675single nucleotide variantNM_024513.4(FYCO1):c.325C>T (p.Arg109Cys)Cataract 18 [RCV000385855]uncertain significance34597530945975309Human1name
11588600CV291548single nucleotide variantNM_024513.4(FYCO1):c.3789A>G (p.Thr1263=)Cataract 18 [RCV000529328]|not provided [RCV001618615]benign|likely benign34595841845958418Human1name
11588609CV291606single nucleotide variantNM_024513.4(FYCO1):c.868C>T (p.Arg290Cys)Cataract 18 [RCV000304151]uncertain significance34596846645968466Human1name
11584333CV291607single nucleotide variantNM_024513.4(FYCO1):c.753G>T (p.Glu251Asp)Cataract 18 [RCV000273152]likely benign|uncertain significance34596858145968581Human1name
11591919CV291608single nucleotide variantNM_024513.4(FYCO1):c.647C>T (p.Ser216Phe)Cataract 18 [RCV000333739]|FYCO1-related disorder [RCV003912456]|not provided [RCV000877578]benign|likely benign|uncertain significance34596868745968687Human1name , trait , alternate_id
11595737CV294763single nucleotide variantNM_024513.4(FYCO1):c.3993C>T (p.Pro1331=)Cataract 18 [RCV000374013]|not provided [RCV003430881]likely benign|conflicting interpretations of pathogenicity|uncertain significance34593649545936495Human1name
11583089CV294781single nucleotide variantNM_024513.4(FYCO1):c.844C>T (p.Arg282Cys)Cataract 18 [RCV000264158]|Inborn genetic diseases [RCV002523259]uncertain significance34596849045968490Human2name
11587426CV294782single nucleotide variantNM_024513.4(FYCO1):c.713A>C (p.Glu238Ala)Cataract 18 [RCV000544784]|FYCO1-related disorder [RCV003910358]benign|uncertain significance34596862145968621Human1name , trait , alternate_id
11597591CV295166single nucleotide variantNM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)Cataract 18 [RCV000644759]likely benign|conflicting interpretations of pathogenicity|uncertain significance34595536845955368Human1name
11598082CV295181single nucleotide variantNM_024513.4(FYCO1):c.869G>A (p.Arg290His)Cataract 18 [RCV000401368]|FYCO1-related disorder [RCV003922512]|Inborn genetic diseases [RCV002520126]|not provided [RCV003430882]likely benign|uncertain significance34596846545968465Human2name , trait , alternate_id
11594595CV295183single nucleotide variantNM_024513.4(FYCO1):c.845G>A (p.Arg282His)Cataract 18 [RCV000537766]|not provided [RCV001691989]benign|likely benign34596848945968489Human1name
11590753CV295189single nucleotide variantNM_024513.4(FYCO1):c.833G>A (p.Arg278Lys)Cataract 18 [RCV000322311]uncertain significance34596850145968501Human1name
11596496CV295190single nucleotide variantNM_024513.4(FYCO1):c.748C>T (p.Arg250Trp)Cataract 18 [RCV000382861]|Inborn genetic diseases [RCV002520127]uncertain significance34596858645968586Human2name
405189867CV3034707single nucleotide variantNM_024513.4(FYCO1):c.3645C>T (p.His1215=)Cataract 18 [RCV003640687]likely benign34595856245958562Human1name
405265831CV3215682single nucleotide variantNM_024513.4(FYCO1):c.4218G>A (p.Gln1406=)FYCO1-related disorder [RCV003946856]likely benign34593110445931104Humanname , trait , alternate_id
405730600CV3257773single nucleotide variantNM_024513.4(FYCO1):c.754C>T (p.Arg252Cys)Inborn genetic diseases [RCV004389946]uncertain significance34596858045968580Human1name
405730615CV3257775single nucleotide variantNM_024513.4(FYCO1):c.994G>A (p.Asp332Asn)Inborn genetic diseases [RCV004389948]uncertain significance34596834045968340Human1name
407456062CV3415701deletionNM_024513.4(FYCO1):c.1924del (p.Leu642fs)Susceptibility to severe COVID-19 [RCV004598578]likely pathogenic34596741045967410Humanname
407485425CV3439446single nucleotide variantNM_024513.4(FYCO1):c.689A>G (p.Glu230Gly)Inborn genetic diseases [RCV004618915]uncertain significance34596864545968645Human1name
407485442CV3439450single nucleotide variantNM_024513.4(FYCO1):c.513G>T (p.Leu171Phe)Inborn genetic diseases [RCV004618919]uncertain significance34597311445973114Human1name
408379739CV3505955duplicationNM_024513.4(FYCO1):c.2147dup (p.Glu717fs)FYCO1-related disorder [RCV004728639]likely pathogenic34596718645967187Humanname , trait , alternate_id
597670556CV3676881single nucleotide variantNM_024513.4(FYCO1):c.464A>G (p.Tyr155Cys)Inborn genetic diseases [RCV004980265]uncertain significance34597316345973163Human1name
597670626CV3676898single nucleotide variantNM_024513.4(FYCO1):c.377T>G (p.Met126Arg)Inborn genetic diseases [RCV004980276]uncertain significance34597525745975257Human1name
597902878CV3851539deletionNM_024513.4(FYCO1):c.2308del (p.Gln770fs)Cataract 18 [RCV005202316]pathogenic34596702645967026Human1name
598228870CV3894778single nucleotide variantNM_024513.4(FYCO1):c.402G>A (p.Trp134Ter)Cataract 18 [RCV005257984]pathogenic34597322545973225Human1name
598243894CV3966847single nucleotide variantNM_024513.4(FYCO1):c.550A>G (p.Thr184Ala)Inborn genetic diseases [RCV005344781]likely benign34596975545969755Human1name
598243910CV3977197single nucleotide variantNM_024513.4(FYCO1):c.589C>T (p.Arg197Cys)Inborn genetic diseases [RCV005344784]uncertain significance34596971645969716Human1name
598243916CV3977198single nucleotide variantNM_024513.4(FYCO1):c.305G>A (p.Gly102Glu)Inborn genetic diseases [RCV005344785]uncertain significance34597532945975329Human1name
598243932CV3977202single nucleotide variantNM_024513.4(FYCO1):c.961G>T (p.Gly321Cys)Inborn genetic diseases [RCV005344789]uncertain significance34596837345968373Human1name
13487341CV452427single nucleotide variantNM_024513.4(FYCO1):c.4146C>T (p.Ala1382=)Cataract 18 [RCV000554235]|not provided [RCV001556800]benign|likely benign34593117645931176Human1name
13484267CV452983single nucleotide variantNM_024513.4(FYCO1):c.4254C>A (p.Val1418=)Cataract 18 [RCV000530260]likely benign34592376345923763Human1name
13488363CV452987single nucleotide variantNM_024513.4(FYCO1):c.632C>T (p.Thr211Ile)Cataract 18 [RCV000532319]|Inborn genetic diseases [RCV005328309]uncertain significance34596870245968702Human2name
14711312CV631454deletionNM_024513.4(FYCO1):c.2505del (p.Ala836fs)Cataract 18 [RCV000817362]pathogenic34596682945966829Human1name
14734005CV631456single nucleotide variantNM_024513.4(FYCO1):c.854C>T (p.Ala285Val)Cataract 18 [RCV000818937]uncertain significance34596848045968480Human1name
14736920CV631457single nucleotide variantNM_024513.4(FYCO1):c.457C>G (p.Gln153Glu)Cataract 18 [RCV000803817]uncertain significance34597317045973170Human1name
15133554CV691422single nucleotide variantNM_024513.4(FYCO1):c.3903A>G (p.Thr1301=)Cataract 18 [RCV001147927]likely benign|conflicting interpretations of pathogenicity|uncertain significance34595529045955290Human1name
15177066CV698115single nucleotide variantNM_024513.4(FYCO1):c.4161C>A (p.Thr1387=)Cataract 18 [RCV002066274]likely benign34593116145931161Human1name
28877117CV859272single nucleotide variantNM_024513.4(FYCO1):c.443C>T (p.Ser148Leu)Cataract 18 [RCV001148251]|not provided [RCV001093067]uncertain significance34597318445973184Human1name
28874069CV889063single nucleotide variantNM_024513.4(FYCO1):c.3999G>T (p.Gly1333=)Cataract 18 [RCV001147039]uncertain significance34593648945936489Human1name
28876113CV889066single nucleotide variantNM_024513.4(FYCO1):c.3831C>T (p.Asp1277=)Cataract 18 [RCV001147928]conflicting interpretations of pathogenicity|uncertain significance34595536245955362Human1name
28870464CV889086single nucleotide variantNM_024513.4(FYCO1):c.844C>G (p.Arg282Gly)Cataract 18 [RCV001145381]uncertain significance34596849045968490Human1name
28870466CV889087single nucleotide variantNM_024513.4(FYCO1):c.793G>A (p.Ala265Thr)Cataract 18 [RCV001145382]|Inborn genetic diseases [RCV003293901]uncertain significance34596854145968541Human2name
28877111CV889091single nucleotide variantNM_024513.4(FYCO1):c.452T>C (p.Val151Ala)Cataract 18 [RCV001148250]|not provided [RCV004694922]uncertain significance34597317545973175Human1name
28877121CV889092single nucleotide variantNM_024513.4(FYCO1):c.368A>C (p.Gln123Pro)Cataract 18 [RCV001148252]uncertain significance34597526645975266Human1name
28877126CV889093single nucleotide variantNM_024513.4(FYCO1):c.337G>A (p.Val113Met)Cataract 18 [RCV001148253]|Inborn genetic diseases [RCV003246728]uncertain significance34597529745975297Human2name
151865546CV1357768deletionNM_024513.4(FYCO1):c.3861del (p.Glu1287fs)Cataract 18 [RCV001905836]pathogenic34595533245955332Human1name
151725844CV1433362single nucleotide variantNM_024513.4(FYCO1):c.1051C>G (p.Leu351Val)Cataract 18 [RCV001983668]uncertain significance34596828345968283Human1name
151804952CV1503520deletionNM_024513.4(FYCO1):c.3161del (p.Ala1054fs)Cataract 18 [RCV002011903]pathogenic34596444445964444Human1name
151729743CV1515546single nucleotide variantNM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser)Cataract 18 [RCV002041071]uncertain significance34596816345968163Human1name
152033593CV1542733single nucleotide variantNM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg)Cataract 18 [RCV002106604]likely benign34596783245967832Human1name
156361278CV1874252single nucleotide variantNM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser)Cataract 18 [RCV003071689]|Inborn genetic diseases [RCV003065633]uncertain significance34596779945967799Human2name
156215610CV2015218single nucleotide variantNM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser)Cataract 18 [RCV002700801]benign34596765945967659Human1name
156024511CV2020020single nucleotide variantNM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln)Cataract 18 [RCV002691160]uncertain significance34596812145968121Human1name
156195504CV2223434single nucleotide variantNM_024513.4(FYCO1):c.2360G>A (p.Arg787Gln)Inborn genetic diseases [RCV002743110]uncertain significance34596697445966974Human1name
156235960CV2224086single nucleotide variantNM_024513.4(FYCO1):c.2885A>G (p.Gln962Arg)Inborn genetic diseases [RCV002713068]uncertain significance34596644945966449Human1name
155947174CV2234778single nucleotide variantNM_024513.4(FYCO1):c.1471A>G (p.Arg491Gly)Inborn genetic diseases [RCV002752633]uncertain significance34596786345967863Human1name
156265083CV2275370single nucleotide variantNM_024513.4(FYCO1):c.1372G>A (p.Glu458Lys)Inborn genetic diseases [RCV002831957]uncertain significance34596796245967962Human1name
156297739CV2297710single nucleotide variantNM_024513.4(FYCO1):c.1885G>T (p.Val629Phe)Inborn genetic diseases [RCV002879384]uncertain significance34596744945967449Human1name
156241679CV2346933single nucleotide variantNM_024513.4(FYCO1):c.2235G>C (p.Glu745Asp)Inborn genetic diseases [RCV002987415]uncertain significance34596709945967099Human1name
156110704CV2387682single nucleotide variantNM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)Cataract 18 [RCV003526229]|Inborn genetic diseases [RCV002739692]uncertain significance34596647045966470Human2name
155963894CV2395776single nucleotide variantNM_024513.4(FYCO1):c.2125T>C (p.Cys709Arg)Inborn genetic diseases [RCV002754266]uncertain significance34596720945967209Human1name
329359632CV2446360single nucleotide variantNM_024513.4(FYCO1):c.1993G>C (p.Ala665Pro)Inborn genetic diseases [RCV003179521]uncertain significance34596734145967341Human1name
329357527CV2453641single nucleotide variantNM_024513.4(FYCO1):c.2072T>G (p.Met691Arg)Inborn genetic diseases [RCV003203732]uncertain significance34596726245967262Human1name
329394408CV2469855single nucleotide variantNM_024513.4(FYCO1):c.1963G>A (p.Ala655Thr)Inborn genetic diseases [RCV003218778]uncertain significance34596737145967371Human1name
401867182CV2472817single nucleotide variantNM_024513.4(FYCO1):c.1493A>C (p.Gln498Pro)not provided [RCV003331514]uncertain significance34596784145967841Humanname
12911266CV247351single nucleotide variantNM_024513.4(FYCO1):c.1538G>A (p.Arg513Gln)Developmental cataract [RCV000490782]benign34596779645967796Human2name
11552051CV251157single nucleotide variantNM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys)Cataract 18 [RCV000528598]|not provided [RCV001651251]|not specified [RCV000253867]benign|likely benign34596635445966354Human1name
11548678CV251159single nucleotide variantNM_024513.4(FYCO1):c.2036C>T (p.Ala679Val)Cataract 18 [RCV000390352]|not provided [RCV000836674]|not specified [RCV000249400]benign34596729845967298Human1name
11544181CV251160single nucleotide variantNM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp)Cataract 18 [RCV000533702]|not provided [RCV001573059]|not specified [RCV000243439]benign|likely benign34596749145967491Human1name
11550337CV251161single nucleotide variantNM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys)Cataract 18 [RCV000290339]|not provided [RCV000836726]|not specified [RCV000251621]benign34596799545967995Human1name
401727345CV2684591single nucleotide variantNM_024513.4(FYCO1):c.2653G>A (p.Glu885Lys)Inborn genetic diseases [RCV003269995]uncertain significance34596668145966681Human1name
401717802CV2704023single nucleotide variantNM_024513.4(FYCO1):c.2974C>T (p.Leu992Phe)Inborn genetic diseases [RCV003266264]uncertain significance34596636045966360Human1name
401762434CV2714138single nucleotide variantNM_024513.4(FYCO1):c.1657C>T (p.Leu553Phe)Inborn genetic diseases [RCV003257883]uncertain significance34596767745967677Human1name
401754286CV2717327single nucleotide variantNM_024513.4(FYCO1):c.1915C>G (p.Leu639Val)Inborn genetic diseases [RCV003296478]uncertain significance34596741945967419Human1name
401754290CV2717328single nucleotide variantNM_024513.4(FYCO1):c.1916T>G (p.Leu639Arg)Inborn genetic diseases [RCV003296479]uncertain significance34596741845967418Human1name
401752344CV2723203single nucleotide variantNM_024513.4(FYCO1):c.1808C>A (p.Thr603Asn)Inborn genetic diseases [RCV003295804]uncertain significance34596752645967526Human1name
401857267CV2762537single nucleotide variantNM_024513.4(FYCO1):c.1340G>A (p.Arg447His)Inborn genetic diseases [RCV003341277]likely benign34596799445967994Human1name
401907328CV2800194single nucleotide variantNM_024513.4(FYCO1):c.1950G>C (p.Gln650His)FYCO1-related disorder [RCV003397329]|Inborn genetic diseases [RCV004978833]uncertain significance34596738445967384Human2name , trait , alternate_id
11585697CV290641single nucleotide variantNM_024513.4(FYCO1):c.2399G>A (p.Arg800Gln)Cataract 18 [RCV000282900]uncertain significance34596693545966935Human1name
11597490CV290644single nucleotide variantNM_024513.4(FYCO1):c.2179C>A (p.His727Asn)Cataract 18 [RCV000550874]|not provided [RCV001691988]benign|likely benign34596715545967155Human1name
11644993CV290645single nucleotide variantNM_024513.4(FYCO1):c.1765G>A (p.Glu589Lys)Cataract 18 [RCV000263160]uncertain significance34596756945967569Human1name
11596330CV290663single nucleotide variantNM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln)Cataract 18 [RCV000381154]|not provided [RCV004708786]benign|uncertain significance34596800945968009Human1name
11587111CV290666single nucleotide variantNM_024513.4(FYCO1):c.1142C>T (p.Thr381Met)Cataract 18 [RCV000872353]|not provided [RCV002469136]benign|likely benign|uncertain significance34596819245968192Human1name
11593489CV290670single nucleotide variantNM_024513.4(FYCO1):c.1121T>C (p.Met374Thr)Cataract 18 [RCV000349568]uncertain significance34596821345968213Human1name
11644900CV291554single nucleotide variantNM_024513.4(FYCO1):c.2932C>G (p.Leu978Val)Cataract 18 [RCV000262622]uncertain significance34596640245966402Human1name
11596264CV291555single nucleotide variantNM_024513.4(FYCO1):c.2552G>A (p.Arg851His)Cataract 18 [RCV000380432]uncertain significance34596678245966782Human1name
11595415CV291564single nucleotide variantNM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe)Cataract 18 [RCV000870596]|FYCO1-related disorder [RCV003932396]|not provided [RCV001573107]|not specified [RCV001727697]benign|likely benign|uncertain significance34596734945967349Human1name , trait , alternate_id
11583455CV291572single nucleotide variantNM_024513.4(FYCO1):c.1549T>A (p.Phe517Ile)Cataract 18 [RCV000266931]uncertain significance34596778545967785Human1name
11590979CV291589single nucleotide variantNM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp)Cataract 18 [RCV001085929]|FYCO1-related disorder [RCV003922511]|not provided [RCV000828433]benign|likely benign|uncertain significance34596786045967860Human1name , trait , alternate_id
11588124CV291603single nucleotide variantNM_024513.4(FYCO1):c.1015C>G (p.Arg339Gly)Developmental cataract [RCV000300427]uncertain significance34596831945968319Human2name
11590549CV294766single nucleotide variantNM_024513.4(FYCO1):c.2815G>C (p.Ala939Pro)Cataract 18 [RCV000320113]|Inborn genetic diseases [RCV002523258]|not provided [RCV004694750]uncertain significance34596651945966519Human2name
11592581CV294770single nucleotide variantNM_024513.4(FYCO1):c.2200G>C (p.Glu734Gln)Cataract 18 [RCV000340283]uncertain significance34596713445967134Human1name
11589771CV294772single nucleotide variantNM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn)Cataract 18 [RCV000870595]|not provided [RCV001573912]|not specified [RCV001727696]benign|likely benign|uncertain significance34596732845967328Human1name
11584394CV294775single nucleotide variantNM_024513.4(FYCO1):c.1933G>A (p.Asp645Asn)Cataract 18 [RCV000273673]|Inborn genetic diseases [RCV003168523]uncertain significance34596740145967401Human2name
11590120CV294776single nucleotide variantNM_024513.4(FYCO1):c.1676C>T (p.Pro559Leu)Cataract 18 [RCV000316052]|Inborn genetic diseases [RCV004021916]uncertain significance34596765845967658Human2name
11663311CV294780single nucleotide variantNM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr)Cataract 18 [RCV000394803]uncertain significance34596819045968190Human1name
11595616CV295168single nucleotide variantNM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr)Cataract 18 [RCV000372365]|FYCO1-related disorder [RCV003912454]|not provided [RCV000877577]benign|likely benign|uncertain significance34596652845966528Human1name , trait , alternate_id
405279331CV3219648single nucleotide variantNM_024513.4(FYCO1):c.1990G>T (p.Glu664Ter)FYCO1-related disorder [RCV003954892]likely pathogenic34596734445967344Humanname , trait , alternate_id
405731463CV3257760single nucleotide variantNM_024513.4(FYCO1):c.1061C>T (p.Thr354Ile)Inborn genetic diseases [RCV004389933]uncertain significance34596827345968273Human1name
405731440CV3257763single nucleotide variantNM_024513.4(FYCO1):c.1621C>A (p.Gln541Lys)Inborn genetic diseases [RCV004389936]uncertain significance34596771345967713Human1name
405731436CV3257764single nucleotide variantNM_024513.4(FYCO1):c.2455G>A (p.Val819Ile)Inborn genetic diseases [RCV004389937]uncertain significance34596687945966879Human1name
405731427CV3257765single nucleotide variantNM_024513.4(FYCO1):c.2581G>A (p.Asp861Asn)Inborn genetic diseases [RCV004389938]uncertain significance34596675345966753Human1name
405731419CV3257766single nucleotide variantNM_024513.4(FYCO1):c.2699G>A (p.Arg900Gln)Inborn genetic diseases [RCV004389939]uncertain significance34596663545966635Human1name
407455658CV3415686deletionNM_024513.4(FYCO1):c.3536del (p.Cys1179fs)Susceptibility to severe COVID-19 [RCV004598563]likely pathogenic34595944445959444Humanname
407485391CV3439439single nucleotide variantNM_024513.4(FYCO1):c.1012C>T (p.Arg338Trp)Inborn genetic diseases [RCV004618908]uncertain significance34596832245968322Human1name
407485396CV3439440single nucleotide variantNM_024513.4(FYCO1):c.1060A>G (p.Thr354Ala)Inborn genetic diseases [RCV004618909]likely benign34596827445968274Human1name
407485401CV3439441single nucleotide variantNM_024513.4(FYCO1):c.2177G>A (p.Arg726Gln)Inborn genetic diseases [RCV004618910]uncertain significance34596715745967157Human1name
407485412CV3439443single nucleotide variantNM_024513.4(FYCO1):c.1163G>A (p.Arg388Gln)Inborn genetic diseases [RCV004618912]likely benign34596817145968171Human1name
407485422CV3439445single nucleotide variantNM_024513.4(FYCO1):c.1988T>C (p.Leu663Pro)Inborn genetic diseases [RCV004618914]uncertain significance34596734645967346Human1name
407485428CV3439447single nucleotide variantNM_024513.4(FYCO1):c.2264G>C (p.Gly755Ala)Inborn genetic diseases [RCV004618916]uncertain significance34596707045967070Human1name
407485433CV3439448single nucleotide variantNM_024513.4(FYCO1):c.2401G>C (p.Ala801Pro)Inborn genetic diseases [RCV004618917]uncertain significance34596693345966933Human1name
408383451CV3518297single nucleotide variantNM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)Cataract 18 [RCV004759620]pathogenic34596694845966948Human1name
597670538CV3676877single nucleotide variantNM_024513.4(FYCO1):c.2176C>T (p.Arg726Trp)Inborn genetic diseases [RCV004980262]uncertain significance34596715845967158Human1name
597670561CV3676882single nucleotide variantNM_024513.4(FYCO1):c.1337A>G (p.Glu446Gly)Inborn genetic diseases [RCV004980266]uncertain significance34596799745967997Human1name
597670568CV3676883single nucleotide variantNM_024513.4(FYCO1):c.2164C>G (p.Leu722Val)Inborn genetic diseases [RCV004980267]uncertain significance34596717045967170Human1name
597670574CV3676884single nucleotide variantNM_024513.4(FYCO1):c.2173G>A (p.Ala725Thr)Inborn genetic diseases [RCV004980268]uncertain significance34596716145967161Human1name
597670581CV3676885single nucleotide variantNM_024513.4(FYCO1):c.2122G>A (p.Glu708Lys)Inborn genetic diseases [RCV004980269]uncertain significance34596721245967212Human1name
597670586CV3676886single nucleotide variantNM_024513.4(FYCO1):c.2276C>T (p.Pro759Leu)Inborn genetic diseases [RCV004980270]uncertain significance34596705845967058Human1name
597682748CV3676888single nucleotide variantNM_024513.4(FYCO1):c.1609A>C (p.Lys537Gln)Inborn genetic diseases [RCV004983600]uncertain significance34596772545967725Human1name
597670592CV3676889single nucleotide variantNM_024513.4(FYCO1):c.2546C>T (p.Ser849Leu)Inborn genetic diseases [RCV004980271]uncertain significance34596678845966788Human1name
597682765CV3676893single nucleotide variantNM_024513.4(FYCO1):c.1766A>G (p.Glu589Gly)Inborn genetic diseases [RCV004983602]uncertain significance34596756845967568Human1name
597670613CV3676896single nucleotide variantNM_024513.4(FYCO1):c.2314G>A (p.Ala772Thr)Inborn genetic diseases [RCV004980274]uncertain significance34596702045967020Human1name
597670620CV3676897single nucleotide variantNM_024513.4(FYCO1):c.2639C>G (p.Ala880Gly)Inborn genetic diseases [RCV004980275]uncertain significance34596669545966695Human1name
597670645CV3676901single nucleotide variantNM_024513.4(FYCO1):c.1077C>G (p.Asp359Glu)Inborn genetic diseases [RCV004980279]uncertain significance34596825745968257Human1name
597670658CV3676904single nucleotide variantNM_024513.4(FYCO1):c.2599G>C (p.Glu867Gln)Inborn genetic diseases [RCV004980281]uncertain significance34596673545966735Human1name
597670664CV3676905single nucleotide variantNM_024513.4(FYCO1):c.2789T>C (p.Val930Ala)Inborn genetic diseases [RCV004980282]uncertain significance34596654545966545Human1name
597838936CV3824865single nucleotide variantNM_024513.4(FYCO1):c.1410G>A (p.Trp470Ter)Cataract 18 [RCV005171729]pathogenic34596792445967924Human1name
597940522CV3836710single nucleotide variantNM_024513.4(FYCO1):c.2947G>A (p.Ala983Thr)Cataract 18 [RCV005187730]uncertain significance34596638745966387Human1name
597923054CV3839898single nucleotide variantNM_024513.4(FYCO1):c.2762G>A (p.Arg921Gln)Cataract 18 [RCV005184637]uncertain significance34596657245966572Human1name
8602286CV39602single nucleotide variantNM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter)Cataract 18 [RCV000023620]pathogenic34596828945968289Human1name
8602287CV39603single nucleotide variantNM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter)Cataract 18 [RCV000023621]pathogenic34596712845967128Human1name
8602289CV39607single nucleotide variantNM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)Cataract 18 [RCV000023625]pathogenic34596778845967788Human1name
598243879CV3966844single nucleotide variantNM_024513.4(FYCO1):c.2302G>T (p.Ala768Ser)Inborn genetic diseases [RCV005344778]uncertain significance34596703245967032Human1name
598243890CV3966846single nucleotide variantNM_024513.4(FYCO1):c.1864G>A (p.Glu622Lys)Inborn genetic diseases [RCV005344780]uncertain significance34596747045967470Human1name
598243899CV3966848single nucleotide variantNM_024513.4(FYCO1):c.2285A>G (p.Asn762Ser)Inborn genetic diseases [RCV005344782]uncertain significance34596704945967049Human1name
598243904CV3966849single nucleotide variantNM_024513.4(FYCO1):c.1414C>T (p.Arg472Trp)Inborn genetic diseases [RCV005344783]uncertain significance34596792045967920Human1name
598243918CV3977199single nucleotide variantNM_024513.4(FYCO1):c.1889G>A (p.Gly630Glu)Inborn genetic diseases [RCV005344786]likely benign34596744545967445Human1name
13470391CV452434single nucleotide variantNM_024513.4(FYCO1):c.1439C>T (p.Thr480Met)Cataract 18 [RCV001147244]|FYCO1-related disorder [RCV003942816]|not provided [RCV000828289]benign|likely benign34596789545967895Human1name , trait , alternate_id
13503859CV452656single nucleotide variantNM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg)Cataract 18 [RCV000547674]|Inborn genetic diseases [RCV004619327]uncertain significance34596664445966644Human2name
13477141CV452660single nucleotide variantNM_024513.4(FYCO1):c.2294G>A (p.Arg765His)Cataract 18 [RCV000527004]|FYCO1-related disorder [RCV003962536]|not provided [RCV001591244]benign|likely benign34596704045967040Human1name , trait , alternate_id
13492237CV452742single nucleotide variantNM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp)Cataract 18 [RCV000557289]|not provided [RCV001539061]benign|likely benign34596827145968271Human1name
13483815CV452985single nucleotide variantNM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp)Cataract 18 [RCV000552469]uncertain significance34596647745966477Human1name
13616540CV519353single nucleotide variantNM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp)Cataract 18 [RCV000644758]uncertain significance34596748245967482Human1name
13616538CV519554single nucleotide variantNM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys)Cataract 18 [RCV000644757]|Inborn genetic diseases [RCV002528911]uncertain significance34596808245968082Human2name
14740301CV631455single nucleotide variantNM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp)Cataract 18 [RCV000805309]|Inborn genetic diseases [RCV004028214]uncertain significance34596779745967797Human2name
15017051CV681803single nucleotide variantNM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter)Cataract 18 [RCV000855400]likely pathogenic34596771345967713Human1name
15103067CV698119single nucleotide variantNM_024513.4(FYCO1):c.2749G>A (p.Val917Met)Inborn genetic diseases [RCV002547268]|not provided [RCV000959405]benign|likely benign34596658545966585Human1name
15121793CV748281single nucleotide variantNM_024513.4(FYCO1):c.2917G>A (p.Gly973Ser)not provided [RCV000918541]likely benign34596641745966417Humanname
26898133CV828188single nucleotide variantNM_024513.4(FYCO1):c.2966C>T (p.Ala989Val)Cataract 18 [RCV001035620]|Inborn genetic diseases [RCV005328466]uncertain significance34596636845966368Human2name
28876444CV889074single nucleotide variantNM_024513.4(FYCO1):c.2780C>T (p.Ala927Val)Cataract 18 [RCV001148035]uncertain significance34596655445966554Human1name
28876448CV889075single nucleotide variantNM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln)Cataract 18 [RCV001148036]|FYCO1-related disorder [RCV003928748]|Inborn genetic diseases [RCV002557171]benign|likely benign34596672245966722Human2name , trait , alternate_id
28876453CV889076single nucleotide variantNM_024513.4(FYCO1):c.2507C>A (p.Ala836Asp)Cataract 18 [RCV001148037]uncertain significance34596682745966827Human1name
28876458CV889077single nucleotide variantNM_024513.4(FYCO1):c.2455G>T (p.Val819Phe)Cataract 18 [RCV001148038]uncertain significance34596687945966879Human1name
28881307CV889078single nucleotide variantNM_024513.4(FYCO1):c.2433C>G (p.Ser811Arg)Cataract 18 [RCV001149586]uncertain significance34596690145966901Human1name
28881310CV889079single nucleotide variantNM_024513.4(FYCO1):c.2389G>A (p.Ala797Thr)Cataract 18 [RCV001149587]uncertain significance34596694545966945Human1name
28881314CV889080single nucleotide variantNM_024513.4(FYCO1):c.2359C>T (p.Arg787Trp)Cataract 18 [RCV001149588]uncertain significance34596697545966975Human1name
28874499CV889082single nucleotide variantNM_024513.4(FYCO1):c.1826G>T (p.Ser609Ile)Cataract 18 [RCV001147242]uncertain significance34596750845967508Human1name
28874502CV889083single nucleotide variantNM_024513.4(FYCO1):c.1651G>T (p.Gly551Cys)Cataract 18 [RCV001147243]uncertain significance34596768345967683Human1name
28881646CV889084single nucleotide variantNM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln)Cataract 18 [RCV001149693]|not provided [RCV004709036]benign34596831845968318Human1name
38478913CV943571single nucleotide variantNM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr)Cataract 18 [RCV001234089]uncertain significance34596797745967977Human1name
40815106CV970768single nucleotide variantNM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)Cataract 18 [RCV001262442]pathogenic34596792345967923Human1name
126729905CV1004785single nucleotide variantNM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu)Cataract 18 [RCV001312773]|Inborn genetic diseases [RCV002545050]uncertain significance34595536945955369Human2name
126733235CV1025315single nucleotide variantNM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys)Cataract 18 [RCV001349743]uncertain significance34593110345931103Human1name
127315804CV1114029single nucleotide variantNM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val)Cataract 18 [RCV001465325]likely benign34596439045964390Human1name
151349108CV1170190single nucleotide variantNM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter)Abnormality of the eye [RCV001814428]|Cataract 18 [RCV005094751]pathogenic|likely pathogenic34596233245962332Human3name
150424011CV1183355single nucleotide variantNM_024513.4(FYCO1):c.3307C>T (p.Gln1103Ter)not provided [RCV001556091]pathogenic34596235545962355Humanname
151738852CV1379262single nucleotide variantNM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp)Cataract 18 [RCV001911726]uncertain significance34595940645959406Human1name
151769215CV1411253single nucleotide variantNM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe)Cataract 18 [RCV002045079]uncertain significance34592373745923737Human1name
151822848CV1448323single nucleotide variantNM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu)Cataract 18 [RCV001934312]|Inborn genetic diseases [RCV002562156]uncertain significance34593121845931218Human2name
151809299CV1477979single nucleotide variantNM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter)Cataract 18 [RCV001953655]pathogenic34596234045962340Human1name
155940152CV2037921single nucleotide variantNM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)Cataract 18 [RCV002775135]|FYCO1-related disorder [RCV003903770]|Inborn genetic diseases [RCV004973594]likely benign|uncertain significance34596223745962237Human2name , trait , alternate_id
156213322CV2080216single nucleotide variantNM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)Cataract 18 [RCV002875568]uncertain significance34596237645962376Human1name
156281525CV2220567single nucleotide variantNM_024513.4(FYCO1):c.3925G>A (p.Asp1309Asn)Inborn genetic diseases [RCV002747131]uncertain significance34595526845955268Human1name
156076688CV2230231single nucleotide variantNM_024513.4(FYCO1):c.4171G>T (p.Val1391Phe)Inborn genetic diseases [RCV002737676]uncertain significance34593115145931151Human1name
156126440CV2234368single nucleotide variantNM_024513.4(FYCO1):c.3292G>T (p.Ala1098Ser)Inborn genetic diseases [RCV002762643]uncertain significance34596237045962370Human1name
156072986CV2299130single nucleotide variantNM_024513.4(FYCO1):c.3908C>T (p.Thr1303Ile)Inborn genetic diseases [RCV002886988]uncertain significance34595528545955285Human1name
155905334CV2303086single nucleotide variantNM_024513.4(FYCO1):c.3820C>A (p.Pro1274Thr)Inborn genetic diseases [RCV002901700]uncertain significance34595537345955373Human1name
156361207CV2326425single nucleotide variantNM_024513.4(FYCO1):c.4076G>C (p.Ser1359Thr)Inborn genetic diseases [RCV002941371]uncertain significance34593124645931246Human1name
156052812CV2385375single nucleotide variantNM_024513.4(FYCO1):c.3908C>G (p.Thr1303Ser)Inborn genetic diseases [RCV002705052]uncertain significance34595528545955285Human1name
156253994CV2397496single nucleotide variantNM_024513.4(FYCO1):c.3292G>A (p.Ala1098Thr)Inborn genetic diseases [RCV002769042]uncertain significance34596237045962370Human1name
156004708CV2401013single nucleotide variantNM_024513.4(FYCO1):c.3836T>A (p.Val1279Glu)Inborn genetic diseases [RCV002779697]uncertain significance34595535745955357Human1name
329401667CV2457291single nucleotide variantNM_024513.4(FYCO1):c.4345G>A (p.Asp1449Asn)Inborn genetic diseases [RCV003198704]uncertain significance34592367245923672Human1name
329360571CV2458847single nucleotide variantNM_024513.4(FYCO1):c.3036G>T (p.Met1012Ile)Inborn genetic diseases [RCV003205074]uncertain significance34596629845966298Human1name
11549214CV251152single nucleotide variantNM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln)Cataract 18 [RCV000541190]|not provided [RCV001572887]|not specified [RCV000250120]benign|likely benign34596224345962243Human6name
11549214CV251152single nucleotide variantNM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln)Cataract 18 [RCV000541190]|not provided [RCV001572887]|not specified [RCV000250120]benign|likely benign34596224345962244Human6name
11552128CV251154single nucleotide variantNM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys)Cataract 18 [RCV000370197]|not provided [RCV000836729]|not specified [RCV000253960]benign34596633145966331Human3name
11552128CV251154single nucleotide variantNM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys)Cataract 18 [RCV000370197]|not provided [RCV000836729]|not specified [RCV000253960]benign34596633145966332Human3name
11548509CV251156single nucleotide variantNM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp)Cataract 18 [RCV000330739]|not provided [RCV000836728]|not specified [RCV000249183]benign34596633345966333Human1name
329846562CV2523786single nucleotide variantNM_024513.4(FYCO1):c.3456G>A (p.Trp1152Ter)Cataract 18 [RCV003226076]|not provided [RCV003435999]likely pathogenic34595952445959524Human1name
401744559CV2697026single nucleotide variantNM_024513.4(FYCO1):c.3494G>A (p.Ser1165Asn)Inborn genetic diseases [RCV003241610]uncertain significance34595948645959486Human1name
401860840CV2758656single nucleotide variantNM_024513.4(FYCO1):c.3347G>A (p.Arg1116His)Inborn genetic diseases [RCV003342361]|not specified [RCV003988111]uncertain significance34596231545962315Human1name
401877416CV2769447single nucleotide variantNM_024513.4(FYCO1):c.3832G>A (p.Ala1278Thr)Inborn genetic diseases [RCV003348414]uncertain significance34595536145955361Human1name
401894868CV2781959single nucleotide variantNM_024513.4(FYCO1):c.3283C>G (p.Leu1095Val)Inborn genetic diseases [RCV003371954]uncertain significance34596237945962379Human1name
401894800CV2785295single nucleotide variantNM_024513.4(FYCO1):c.4154G>A (p.Gly1385Asp)Inborn genetic diseases [RCV003371862]uncertain significance34593116845931168Human1name
401921190CV2797915single nucleotide variantNM_024513.4(FYCO1):c.3670C>T (p.Arg1224Ter)FYCO1-related disorder [RCV003402847]pathogenic34595853745958537Humanname , trait , alternate_id
401922209CV2827319single nucleotide variantNM_024513.4(FYCO1):c.4007C>T (p.Ser1336Leu)not provided [RCV003433543]uncertain significance34593648145936481Humanname
404997057CV2870865single nucleotide variantNM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)Cataract 18 [RCV003525727]uncertain significance34596229545962295Human1name
405005592CV2873701single nucleotide variantNM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)Cataract 18 [RCV003526755]uncertain significance34592369345923693Human1name
11591798CV290635single nucleotide variantNM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile)Cataract 18 [RCV000332284]|Inborn genetic diseases [RCV002520125]|not provided [RCV000842474]benign|likely benign|uncertain significance34592369845923698Human2name
11650317CV290636single nucleotide variantNM_024513.4(FYCO1):c.4078T>C (p.Phe1360Leu)Cataract 18 [RCV000292312]uncertain significance34593124445931244Human1name
11660367CV290638single nucleotide variantNM_024513.4(FYCO1):c.3413A>G (p.Glu1138Gly)Cataract 18 [RCV000366522]uncertain significance34596224945962249Human1name
11589165CV290640single nucleotide variantNM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu)Cataract 18 [RCV000872717]benign|uncertain significance34596437145964371Human1name
11596326CV291543single nucleotide variantNM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met)Cataract 18 [RCV000381096]|not provided [RCV001566264]uncertain significance34592180845921808Human1name
11658504CV291545single nucleotide variantNM_024513.4(FYCO1):c.4042A>G (p.Ile1348Val)Cataract 18 [RCV000349623]uncertain significance34593128045931280Human1name
11583951CV295160single nucleotide variantNM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr)Cataract 18 [RCV000270247]|not provided [RCV001723944]conflicting interpretations of pathogenicity|uncertain significance34592369645923696Human1name
11585536CV295162single nucleotide variantNM_024513.4(FYCO1):c.3935C>T (p.Ala1312Val)Cataract 18 [RCV000281854]uncertain significance34595525845955258Human1name
11583838CV295167single nucleotide variantNM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu)Cataract 18 [RCV000870643]|not provided [RCV004710950]likely benign|uncertain significance34596234045962340Human1name
405200478CV3061548single nucleotide variantNM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met)Cataract 18 [RCV003642103]likely benign34593652045936520Human1name
405262016CV3194354single nucleotide variantNM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter)FYCO1-related disorder [RCV003896386]|Inborn genetic diseases [RCV004981135]pathogenic34592374745923747Human2name , trait , alternate_id
405731403CV3257768single nucleotide variantNM_024513.4(FYCO1):c.3016C>A (p.Gln1006Lys)Inborn genetic diseases [RCV004389941]uncertain significance34596631845966318Human1name
405731395CV3257769single nucleotide variantNM_024513.4(FYCO1):c.3426A>G (p.Ile1142Met)Inborn genetic diseases [RCV004389942]uncertain significance34596223645962236Human1name
405731145CV3257770single nucleotide variantNM_024513.4(FYCO1):c.3958A>G (p.Thr1320Ala)Inborn genetic diseases [RCV004389943]uncertain significance34593653045936530Human1name
405730751CV3257772single nucleotide variantNM_024513.4(FYCO1):c.4301G>A (p.Gly1434Asp)Inborn genetic diseases [RCV004389945]uncertain significance34592371645923716Human1name
407485408CV3439442single nucleotide variantNM_024513.4(FYCO1):c.3994G>A (p.Val1332Met)Inborn genetic diseases [RCV004618911]uncertain significance34593649445936494Human1name
407485437CV3439449single nucleotide variantNM_024513.4(FYCO1):c.4296C>G (p.Ile1432Met)Inborn genetic diseases [RCV004618918]uncertain significance34592372145923721Human1name
597670544CV3676878single nucleotide variantNM_024513.4(FYCO1):c.3551G>A (p.Arg1184Gln)Inborn genetic diseases [RCV004980263]uncertain significance34595942945959429Human1name
597670599CV3676894single nucleotide variantNM_024513.4(FYCO1):c.4111T>C (p.Ser1371Pro)Inborn genetic diseases [RCV004980272]uncertain significance34593121145931211Human1name
597670606CV3676895single nucleotide variantNM_024513.4(FYCO1):c.4121A>T (p.Tyr1374Phe)Inborn genetic diseases [RCV004980273]uncertain significance34593120145931201Human1name
597670634CV3676899single nucleotide variantNM_024513.4(FYCO1):c.3103C>G (p.Gln1035Glu)Inborn genetic diseases [RCV004980277]uncertain significance34596508045965080Human1name
597670641CV3676900single nucleotide variantNM_024513.4(FYCO1):c.3579C>G (p.His1193Gln)Inborn genetic diseases [RCV004980278]uncertain significance34595940145959401Human1name
597670651CV3676903single nucleotide variantNM_024513.4(FYCO1):c.4172T>C (p.Val1391Ala)Inborn genetic diseases [RCV004980280]uncertain significance34593115045931150Human1name
597670669CV3676906single nucleotide variantNM_024513.4(FYCO1):c.3614A>G (p.Tyr1205Cys)Inborn genetic diseases [RCV004980283]uncertain significance34595859345958593Human1name
597682773CV3676907single nucleotide variantNM_024513.4(FYCO1):c.3610T>G (p.Tyr1204Asp)Inborn genetic diseases [RCV004983603]uncertain significance34595859745958597Human1name
597866221CV3834431single nucleotide variantNM_024513.4(FYCO1):c.4339A>T (p.Ile1447Phe)Cataract 18 [RCV005175798]uncertain significance34592367845923678Human1name
597933332CV3844670single nucleotide variantNM_024513.4(FYCO1):c.3631G>A (p.Val1211Ile)Cataract 18 [RCV005186176]likely benign34595857645958576Human1name
597964604CV3848101single nucleotide variantNM_024513.4(FYCO1):c.3164A>G (p.Asp1055Gly)Cataract 18 [RCV005193980]uncertain significance34596444145964441Human1name
8602288CV39606single nucleotide variantNM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)Cataract 18 [RCV000023624]pathogenic34593119545931195Human1name
598243924CV3977200single nucleotide variantNM_024513.4(FYCO1):c.4417G>A (p.Asp1473Asn)Inborn genetic diseases [RCV005344787]uncertain significance34592178545921785Human1name
598243931CV3977201single nucleotide variantNM_024513.4(FYCO1):c.3640A>C (p.Lys1214Gln)Inborn genetic diseases [RCV005344788]uncertain significance34595856745958567Human1name
13208194CV424503single nucleotide variantNM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)Cataract 18 [RCV000496073]pathogenic|conflicting interpretations of pathogenicity34592374645923746Human1name
13467275CV452648single nucleotide variantNM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met)Cataract 18 [RCV000543854]|not provided [RCV004546517]benign34592375245923752Human1name
13486577CV452741single nucleotide variantNM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg)Cataract 18 [RCV001149465]|FYCO1-related disorder [RCV003935469]|not provided [RCV000828290]benign|likely benign34595842845958428Human1name , trait , alternate_id
14716597CV631453single nucleotide variantNM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser)Cataract 18 [RCV000811625]uncertain significance34592372545923725Human1name
15103162CV686429single nucleotide variantNM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys)Cataract 18 [RCV000870616]benign34593117545931175Human1name
15149520CV698117single nucleotide variantNM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg)Cataract 18 [RCV003640942]|FYCO1-related disorder [RCV004743220]likely benign34596233945962339Human1name , trait , alternate_id
15189949CV698118single nucleotide variantNM_024513.4(FYCO1):c.3072G>C (p.Glu1024Asp)not provided [RCV000954330]benign34596511145965111Human1name
15189949CV698118single nucleotide variantNM_024513.4(FYCO1):c.3072G>C (p.Glu1024Asp)not provided [RCV000954330]benign34596511145965112Human1name
26898230CV828187single nucleotide variantNM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe)Cataract 18 [RCV001036073]uncertain significance34595530345955303Human1name
28874064CV889061single nucleotide variantNM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)Cataract 18 [RCV001147037]conflicting interpretations of pathogenicity|uncertain significance34593117145931171Human1name
28874066CV889062single nucleotide variantNM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg)Cataract 18 [RCV001147038]|Inborn genetic diseases [RCV002559415]uncertain significance34593124145931241Human2name
28876106CV889064single nucleotide variantNM_024513.4(FYCO1):c.3959C>A (p.Thr1320Asn)Cataract 18 [RCV001147925]uncertain significance34593652945936529Human1name
28876109CV889065single nucleotide variantNM_024513.4(FYCO1):c.3920C>A (p.Ser1307Tyr)Cataract 18 [RCV001147926]uncertain significance34595527345955273Human1name
28880938CV889067single nucleotide variantNM_024513.4(FYCO1):c.3809C>T (p.Thr1270Ile)Cataract 18 [RCV001149464]uncertain significance34595538445955384Human1name
28880944CV889068single nucleotide variantNM_024513.4(FYCO1):c.3587G>C (p.Arg1196Thr)Cataract 18 [RCV001149466]uncertain significance34595939345959393Human1name
28880949CV889069single nucleotide variantNM_024513.4(FYCO1):c.3566T>C (p.Met1189Thr)Cataract 18 [RCV001149467]uncertain significance34595941445959414Human1name
28880956CV889070single nucleotide variantNM_024513.4(FYCO1):c.3433C>G (p.Leu1145Val)Cataract 18 [RCV001149468]uncertain significance34596222945962229Human1name
28870027CV889071single nucleotide variantNM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg)Cataract 18 [RCV001145185]|not provided [RCV004709035]benign34596439345964393Human1name
28870032CV889072single nucleotide variantNM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn)Cataract 18 [RCV001145187]uncertain significance34596628745966287Human1name
28874296CV889073single nucleotide variantNM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg)Cataract 18 [RCV001147144]|FYCO1-related disorder [RCV003963086]likely benign|conflicting interpretations of pathogenicity|uncertain significance34596631045966310Human1name , trait , alternate_id
38493856CV923218single nucleotide variantNM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln)Cataract 18 [RCV001224559]|Inborn genetic diseases [RCV002563657]uncertain significance34595940845959408Human2name
38480567CV931962single nucleotide variantNM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly)Cataract 18 [RCV001206445]|Inborn genetic diseases [RCV005340667]uncertain significance34592178445921784Human2name
38483740CV931963single nucleotide variantNM_024513.4(FYCO1):c.3662G>A (p.Arg1221His)Cataract 18 [RCV001207761]uncertain significance34595854545958545Human1name
126755396CV989605single nucleotide variantNM_024513.4(FYCO1):c.3599G>A (p.Arg1200His)Cataract 18 [RCV001307851]uncertain significance34595860845958608Human1name
25318373CV805351microsatelliteNM_024513.4(FYCO1):c.830_833del (p.Glu277fs)not provided [RCV001008577]pathogenic34596850145968504Humanname
11593999CV290652deletionNM_024513.4(FYCO1):c.1628_1629del (p.Lys543fs)Cataract 18 [RCV000354541]uncertain significance34596770545967706Humanname
405187704CV3013236microsatelliteNM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)Cataract 18 [RCV003640430]uncertain significance34593114145931143Humanname
407457324CV3416106deletionNM_024513.4(FYCO1):c.2710_2713del (p.Asp904fs)not provided [RCV004598984]pathogenic34596662145966624Humanname
597953404CV3795533duplicationNM_024513.4(FYCO1):c.2483_2487dup (p.Leu830fs)Cataract 18 [RCV005136543]pathogenic34596684645966847Human1name
8568485CV39605duplicationNM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs)Cataract 18 [RCV000023623]pathogenic34595533045955331Human1name
13208146CV424504microsatelliteNM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)Cataract 18 [RCV000496018]|not provided [RCV003222003]pathogenic34596233445962335Humanname
155642975CV1707616indelNM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)Cataract 18 [RCV002289077]|not provided [RCV004812441]pathogenic34597972645979728Humanname
151734450CV1393125insertionNM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs)Cataract 18 [RCV001967448]pathogenic34597309845973099Human1name
11545840CV251155indelNM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)Cataract 18 [RCV003243032]|Developmental cataract [RCV000277445]|not specified [RCV000245683]benign|likely benign|uncertain significance34596633145966333Humanname