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Variants search result for All species
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792 records found for search term Wdfy3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405294374CV3214864single nucleotide variantNM_014991.6(WDFY3):c.-9C>TWDFY3-related disorder [RCV004532181]likely benign48486060084860600Humanname , trait
152058004CV1670665single nucleotide variantNM_014991.6(WDFY3):c.-31-1G>Cnot provided [RCV002226185]uncertain significance48486062384860623Humanname
405282454CV3212884duplicationNM_014991.6(WDFY3):c.577-3dupWDFY3-related disorder [RCV004545500]likely benign48483160784831608Humanname , trait
40815860CV970493single nucleotide variantNM_014991.6(WDFY3):c.957-2A>GMicrocephaly 18, primary, autosomal dominant [RCV001261955]likely pathogenic48482698384826983Human1name
127287827CV1163184single nucleotide variantNM_014991.6(WDFY3):c.4063-1G>TMicrocephaly 18, primary, autosomal dominant [RCV001527653]pathogenic48478307584783075Human1name
150492697CV1225526duplicationNM_014991.6(WDFY3):c.3487+8dupMicrocephaly 18, primary, autosomal dominant [RCV002501975]|not provided [RCV001619042]benign|likely benign48479450284794503Human1name
150532328CV1299519single nucleotide variantNM_014991.6(WDFY3):c.1123+1G>Anot provided [RCV001752445]uncertain significance48482681484826814Humanname
150547453CV1316032deletionNM_014991.6(WDFY3):c.9726+1delNeurodevelopmental delay [RCV001785308]likely pathogenic48468394284683942Human1name
152980069CV1678384single nucleotide variantNM_014991.6(WDFY3):c.9726+6T>Cnot specified [RCV002246889]benign48468393784683937Humanname
152999725CV1683292single nucleotide variantNM_014991.6(WDFY3):c.770-10A>GSee cases [RCV002252476]likely benign48482920084829200Humanname
155644832CV1708823single nucleotide variantNM_014991.6(WDFY3):c.2429+5T>Gnot provided [RCV002291420]uncertain significance48480832984808329Humanname
155799917CV1862699single nucleotide variantNM_014991.6(WDFY3):c.4518+7A>GMicrocephaly 18, primary, autosomal dominant [RCV002472106]uncertain significance48477849684778496Human1name
155945968CV1935626single nucleotide variantNM_014991.6(WDFY3):c.5424+5G>Anot provided [RCV002511374]uncertain significance48475692184756921Humanname
156401819CV2217798single nucleotide variantNM_014991.6(WDFY3):c.7961+6G>AInborn genetic diseases [RCV002657134]likely benign48471529284715292Human1name
156216706CV2253797single nucleotide variantNM_014991.6(WDFY3):c.3168-1G>AInborn genetic diseases [RCV002804452]uncertain significance48479498084794980Human1name
243054062CV2418397single nucleotide variantNM_014991.6(WDFY3):c.2936-3C>Tnot provided [RCV003154430]uncertain significance48479675584796755Humanname
401830612CV2473245single nucleotide variantNM_014991.6(WDFY3):c.2345+1G>ASee cases [RCV003326040]pathogenic48480988684809886Humanname
401726691CV2736160single nucleotide variantNM_014991.6(WDFY3):c.7272+2T>Cnot provided [RCV003312607]uncertain significance48472685984726859Humanname
401829785CV2743962single nucleotide variantNM_014991.6(WDFY3):c.7605+4T>CWDFY3-related disorder [RCV004538943]|not provided [RCV003327139]benign|likely benign48472140584721405Human1name , trait
401916079CV2795365single nucleotide variantNM_014991.6(WDFY3):c.4592+1G>ANeurodevelopmental disorder [RCV003389200]uncertain significance48477506484775064Human1name
401923352CV2822623duplicationNM_014991.6(WDFY3):c.9363+6dupWDFY3-related disorder [RCV004540675]|not provided [RCV003435055]benign|likely benign48469049984690500Human1name , trait
401946331CV2839682single nucleotide variantNM_014991.6(WDFY3):c.8901+1G>AMicrocephaly 18, primary, autosomal dominant [RCV003458988]likely pathogenic48469596984695969Human1name
405282273CV3216340duplicationNM_014991.6(WDFY3):c.8098-5dupWDFY3-related disorder [RCV004544043]likely benign48470903284709033Humanname , trait
407425324CV3409450single nucleotide variantNM_014991.6(WDFY3):c.1888-5T>Cnot provided [RCV004585382]likely benign48481034984810349Humanname
407425468CV3411267single nucleotide variantNM_014991.6(WDFY3):c.3488-5T>Gnot provided [RCV004588958]uncertain significance48478991284789912Humanname
408384648CV3504510single nucleotide variantNM_014991.6(WDFY3):c.6993+2T>CWDFY3-related disorder [RCV004731984]likely pathogenic48473504184735041Humanname , trait
597832655CV3734656deletionNM_014991.6(WDFY3):c.5559+2delMicrocephaly 18, primary, autosomal dominant [RCV005054037]uncertain significance48475526484755264Human1name
597926901CV3836852single nucleotide variantNM_014991.6(WDFY3):c.7875+4A>Tnot provided [RCV005185203]uncertain significance48471689284716892Humanname
598126443CV3886274single nucleotide variantNM_014991.6(WDFY3):c.5424+3A>Gnot provided [RCV005242077]uncertain significance48475692384756923Humanname
15100550CV777462single nucleotide variantNM_014991.6(WDFY3):c.4063-9A>GWDFY3-related disorder [RCV004533700]|not provided [RCV000958932]benign48478308384783083Human1name , trait
150332627CV1169059single nucleotide variantNM_014991.6(WDFY3):c.6915+43G>Anot provided [RCV001536976]benign48473612784736127Humanname
150462324CV1214628single nucleotide variantNM_014991.6(WDFY3):c.6916-77A>Gnot provided [RCV001613621]benign48473519784735197Humanname
150462378CV1214636deletionNM_014991.6(WDFY3):c.1888-45delnot provided [RCV001613629]benign48481038984810389Humanname
150475969CV1216743duplicationNM_014991.6(WDFY3):c.7272+63dupnot provided [RCV001616036]benign48472678884726789Humanname
150501674CV1224249single nucleotide variantNM_014991.6(WDFY3):c.4518+77T>Cnot provided [RCV001620890]benign48477842684778426Humanname
150453892CV1232183single nucleotide variantNM_014991.6(WDFY3):c.7606-56A>Gnot provided [RCV001648196]benign48471862684718626Humanname
150487297CV1237310single nucleotide variantNM_014991.6(WDFY3):c.9204+47T>CMicrocephaly 18, primary, autosomal dominant [RCV002243359]|not provided [RCV001654159]benign48469158484691584Human1name
150486656CV1251392single nucleotide variantNM_014991.6(WDFY3):c.6235-46T>Cnot provided [RCV001674063]benign48474046284740462Humanname
150494861CV1256533deletionNM_014991.6(WDFY3):c.8597-26delnot provided [RCV001675498]benign48469684984696849Humanname
150454768CV1259455single nucleotide variantNM_014991.6(WDFY3):c.7962-96A>Gnot provided [RCV001681229]benign48471333584713335Humanname
150448424CV1260683single nucleotide variantNM_014991.6(WDFY3):c.7875+25T>Anot provided [RCV001680351]benign48471687184716871Humanname
150438711CV1264864single nucleotide variantNM_014991.6(WDFY3):c.7754+62G>Anot provided [RCV001678857]benign48471836084718360Humanname
150465937CV1268691single nucleotide variantNM_014991.6(WDFY3):c.5188+84C>Anot provided [RCV001694387]benign48476572684765726Humanname
150465982CV1268698single nucleotide variantNM_014991.6(WDFY3):c.7272+60T>Cnot provided [RCV001694394]benign48472680184726801Humanname
150467787CV1269290duplicationNM_014991.6(WDFY3):c.1888-59dupnot provided [RCV001694698]benign48481038884810389Humanname
150448925CV1270528single nucleotide variantNM_014991.6(WDFY3):c.8042+48A>Tnot provided [RCV001691666]benign48471311184713111Humanname
150461756CV1272922single nucleotide variantNM_014991.6(WDFY3):c.7606-70G>Anot provided [RCV001693678]benign48471864084718640Humanname
150485893CV1273951single nucleotide variantNM_014991.6(WDFY3):c.3669+55G>Tnot provided [RCV001698828]benign48478967184789671Humanname
150450416CV1275804deletionNM_014991.6(WDFY3):c.9205-99delnot provided [RCV001708259]benign48469076384690763Humanname
9687004CV171383single nucleotide variantNM_014991.6(WDFY3):c.10260-7C>GProstate cancer [RCV000149223]uncertain significance48467740384677403Human2name
243052423CV2404380single nucleotide variantNM_014991.6(WDFY3):c.10147+2T>Cnot provided [RCV003129406]uncertain significance48467891784678917Humanname
405280965CV3190700single nucleotide variantNM_014991.6(WDFY3):c.3268+10A>GWDFY3-related disorder [RCV004537010]likely benign48479486984794869Humanname , trait
405265928CV3215754single nucleotide variantNM_014991.6(WDFY3):c.10260-4G>AWDFY3-related disorder [RCV004542436]likely benign48467740084677400Humanname , trait
150330989CV1171289single nucleotide variantNM_014991.6(WDFY3):c.8042+168G>Tnot provided [RCV001538411]benign48471299184712991Humanname
150475193CV1217912single nucleotide variantNM_014991.6(WDFY3):c.2935+201T>Anot provided [RCV001615923]benign48479779584797795Humanname
150483125CV1223538duplicationNM_014991.6(WDFY3):c.2345+170dupnot provided [RCV001617252]benign48480970284809703Humanname
150514915CV1228671single nucleotide variantNM_014991.6(WDFY3):c.7442-218A>Gnot provided [RCV001638659]benign48472179084721790Humanname
150460425CV1236249single nucleotide variantNM_014991.6(WDFY3):c.9204+209C>Tnot provided [RCV001649220]benign48469142284691422Humanname
150496967CV1236944single nucleotide variantNM_014991.6(WDFY3):c.8217+143G>Cnot provided [RCV001656008]benign48470876684708766Humanname
150489842CV1239015single nucleotide variantNM_014991.6(WDFY3):c.8218-154T>Cnot provided [RCV001654583]benign48470566584705665Humanname
150493323CV1257531single nucleotide variantNM_014991.6(WDFY3):c.7962-188C>Gnot provided [RCV001675204]benign48471342784713427Humanname
150444294CV1258497duplicationNM_014991.6(WDFY3):c.6757+171dupnot provided [RCV001679695]benign48473699484736995Humanname
150453619CV1260541single nucleotide variantNM_014991.6(WDFY3):c.8042+180A>Tnot provided [RCV001681033]benign48471297984712979Humanname
150448787CV1270511single nucleotide variantNM_014991.6(WDFY3):c.6073+102T>Gnot provided [RCV001691649]benign48474359884743598Humanname
150485662CV1273789single nucleotide variantNM_014991.6(WDFY3):c.2345+126A>Gnot provided [RCV001698782]benign48480976184809761Humanname
150463321CV1276208deletionNM_014991.6(WDFY3):c.4755-107delnot provided [RCV001710153]benign48477303684773036Humanname
150453528CV1276858single nucleotide variantNM_014991.6(WDFY3):c.8336-104T>Cnot provided [RCV001708648]benign48470454884704548Humanname
150468193CV1277698single nucleotide variantNM_014991.6(WDFY3):c.2608-145C>Tnot provided [RCV001710993]benign48480200984802009Humanname
151663449CV1333963single nucleotide variantNM_014991.6(WDFY3):c.9823+1507C>TMicrocephaly 18, primary, autosomal dominant [RCV001839137]uncertain significance48468086784680867Human1name
405275345CV3204787single nucleotide variantNM_014991.6(WDFY3):c.88C>A (p.Arg30=)WDFY3-related disorder [RCV004544011]likely benign48486050484860504Humanname , trait
617150363CV4021729single nucleotide variantNM_014991.6(WDFY3):c.99G>A (p.Thr33=)not provided [RCV005425698]likely benign48486049384860493Humanname
150333311CV1169060single nucleotide variantNM_014991.6(WDFY3):c.336A>G (p.Leu112=)Microcephaly 18, primary, autosomal dominant [RCV002243297]|not provided [RCV001537269]benign48484123284841232Human1name
150476109CV1263597deletionNM_014991.6(WDFY3):c.3669+55_3669+56delnot provided [RCV001685120]benign48478967084789671Humanname
150555708CV1304863single nucleotide variantNM_014991.6(WDFY3):c.29G>A (p.Arg10Gln)not provided [RCV001773111]uncertain significance48486056384860563Humanname
329359572CV2446330single nucleotide variantNM_014991.6(WDFY3):c.85C>T (p.Arg29Cys)Inborn genetic diseases [RCV003179491]likely benign48486050784860507Human1name
329384584CV2472876single nucleotide variantNM_014991.6(WDFY3):c.32C>T (p.Pro11Leu)not provided [RCV003214178]uncertain significance48486056084860560Humanname
401928273CV2822649single nucleotide variantNM_014991.6(WDFY3):c.894A>G (p.Gln298=)WDFY3-related disorder [RCV004536811]|not provided [RCV003439383]likely benign48482906684829066Human1name , trait
401928275CV2822650single nucleotide variantNM_014991.6(WDFY3):c.795T>G (p.Val265=)WDFY3-related disorder [RCV004536812]|not provided [RCV003439384]likely benign48482916584829165Human1name , trait
401913337CV2830331single nucleotide variantNM_014991.6(WDFY3):c.47G>T (p.Cys16Phe)not provided [RCV003441546]uncertain significance48486054584860545Humanname
405280259CV3191709single nucleotide variantNM_014991.6(WDFY3):c.309T>C (p.Ala103=)WDFY3-related disorder [RCV004539434]likely benign48484125984841259Humanname , trait
596922799CV3530104single nucleotide variantNM_014991.6(WDFY3):c.32C>A (p.Pro11Gln)not provided [RCV004776703]uncertain significance48486056084860560Humanname
596924761CV3532408single nucleotide variantNM_014991.6(WDFY3):c.97A>C (p.Thr33Pro)not provided [RCV004777519]uncertain significance48486049584860495Humanname
150549538CV1299511single nucleotide variantNM_014991.6(WDFY3):c.163C>G (p.Leu55Val)not provided [RCV001752437]uncertain significance48486042984860429Humanname
150555911CV1305414deletionNM_014991.6(WDFY3):c.642del (p.Gln214fs)not provided [RCV001773347]uncertain significance48483154084831540Humanname
155644762CV1710381single nucleotide variantNM_014991.6(WDFY3):c.247C>A (p.Gln83Lys)not provided [RCV002293677]uncertain significance48484995984849959Humanname
156019055CV2233358single nucleotide variantNM_014991.6(WDFY3):c.244A>G (p.Thr82Ala)Inborn genetic diseases [RCV002757143]uncertain significance48484996284849962Human1name
156067326CV2317915single nucleotide variantNM_014991.6(WDFY3):c.100G>A (p.Glu34Lys)Inborn genetic diseases [RCV002925414]uncertain significance48486049284860492Human1name
329379665CV2456391single nucleotide variantNM_014991.6(WDFY3):c.212C>T (p.Thr71Ile)Inborn genetic diseases [RCV003212533]uncertain significance48484999484849994Human1name
329350867CV2477697single nucleotide variantNM_014991.6(WDFY3):c.115C>G (p.Pro39Ala)not provided [RCV003223809]uncertain significance48486047784860477Humanname
401734387CV2690573single nucleotide variantNM_014991.6(WDFY3):c.112C>A (p.Pro38Thr)Inborn genetic diseases [RCV003249473]uncertain significance48486048084860480Human1name
401873006CV2749707single nucleotide variantNM_014991.6(WDFY3):c.292A>C (p.Asn98His)not provided [RCV003332836]uncertain significance48484991484849914Humanname
401928265CV2822640single nucleotide variantNM_014991.6(WDFY3):c.2710C>T (p.Leu904=)not provided [RCV003439379]likely benign48480176284801762Humanname
401923404CV2822641single nucleotide variantNM_014991.6(WDFY3):c.2484C>T (p.Ala828=)not provided [RCV003435067]likely benign48480341384803413Humanname
401923407CV2822644single nucleotide variantNM_014991.6(WDFY3):c.2310T>A (p.Ile770=)not provided [RCV003435069]likely benign48480992284809922Humanname
401923408CV2822647single nucleotide variantNM_014991.6(WDFY3):c.1308A>G (p.Lys436=)not provided [RCV003435070]benign48482136784821367Humanname
405007312CV2853088single nucleotide variantNM_014991.6(WDFY3):c.217A>T (p.Lys73Ter)not specified [RCV003494282]uncertain significance48484998984849989Humanname
405744561CV3226130single nucleotide variantNM_014991.6(WDFY3):c.290C>G (p.Ser97Ter)Microcephaly 18, primary, autosomal dominant [RCV003991121]likely pathogenic48484991684849916Human1name
405802063CV3349008single nucleotide variantNM_014991.6(WDFY3):c.128C>T (p.Thr43Ile)Inborn genetic diseases [RCV004478083]uncertain significance48486046484860464Human1name
407451183CV3489613single nucleotide variantNM_014991.6(WDFY3):c.157A>G (p.Met53Val)Inborn genetic diseases [RCV004683577]uncertain significance48486043584860435Human1name
408391721CV3523348single nucleotide variantNM_014991.6(WDFY3):c.235C>T (p.Gln79Ter)not provided [RCV004770721]pathogenic48484997184849971Humanname
596929675CV3531102single nucleotide variantNM_014991.6(WDFY3):c.179G>A (p.Arg60Lys)not provided [RCV004779676]uncertain significance48486041384860413Humanname
596924902CV3536808single nucleotide variantNM_014991.6(WDFY3):c.115C>A (p.Pro39Thr)Microcephaly 18, primary, autosomal dominant [RCV004785802]uncertain significance48486047784860477Human1name
597630288CV3623789single nucleotide variantNM_014991.6(WDFY3):c.200C>T (p.Pro67Leu)Inborn genetic diseases [RCV004967279]uncertain significance48485000684850006Human1name
598125608CV3885841single nucleotide variantNM_014991.6(WDFY3):c.113C>A (p.Pro38His)not provided [RCV005241644]uncertain significance48486047984860479Humanname
617154267CV4022693single nucleotide variantNM_014991.6(WDFY3):c.263T>C (p.Met88Thr)not provided [RCV005430051]uncertain significance48484994384849943Humanname
126738217CV1000441single nucleotide variantNM_014991.6(WDFY3):c.3732G>A (p.Thr1244=)WDFY3-related disorder [RCV004531097]|not provided [RCV001312043]benign|likely benign48478765184787651Human1name , trait
150445369CV1233166deletionNM_014991.6(WDFY3):c.6758-210_6758-207delnot provided [RCV001645839]benign48473653484736537Humanname
150481367CV1279731single nucleotide variantNM_014991.6(WDFY3):c.3744C>T (p.Tyr1248=)WDFY3-related disorder [RCV004542091]|not provided [RCV001714832]benign48478763984787639Human1name , trait
150551969CV1296344single nucleotide variantNM_014991.6(WDFY3):c.631G>C (p.Asp211His)not provided [RCV001767355]uncertain significance48483155184831551Humanname
150531177CV1299325single nucleotide variantNM_014991.6(WDFY3):c.839T>G (p.Val280Gly)not provided [RCV001757018]uncertain significance48482912184829121Humanname
150547390CV1316002single nucleotide variantNM_014991.6(WDFY3):c.841G>T (p.Glu281Ter)Neurodevelopmental delay [RCV001785278]likely pathogenic48482911984829119Human1name
150547400CV1316006deletionNM_014991.6(WDFY3):c.1990del (p.Ser664fs)Neurodevelopmental delay [RCV001785282]likely pathogenic48481024284810242Human1name
151349876CV1325485single nucleotide variantNM_014991.6(WDFY3):c.952C>T (p.Leu318Phe)not provided [RCV001814771]uncertain significance48482900884829008Humanname
151663689CV1334155single nucleotide variantNM_014991.6(WDFY3):c.853G>A (p.Gly285Arg)not provided [RCV001839329]uncertain significance48482910784829107Humanname
153002355CV1685490single nucleotide variantNM_014991.6(WDFY3):c.937C>T (p.Leu313Phe)not provided [RCV002259477]uncertain significance48482902384829023Humanname
153301803CV1685864single nucleotide variantNM_014991.6(WDFY3):c.602T>C (p.Val201Ala)not provided [RCV002260841]uncertain significance48483158084831580Humanname
153305682CV1688732single nucleotide variantNM_014991.6(WDFY3):c.6576G>A (p.Gly2192=)not specified [RCV002266471]uncertain significance48473736584737365Humanname
153348671CV1692715single nucleotide variantNM_014991.6(WDFY3):c.497T>C (p.Val166Ala)not provided [RCV002274571]uncertain significance48483700884837008Humanname
155641986CV1710009single nucleotide variantNM_014991.6(WDFY3):c.545G>A (p.Arg182His)Inborn genetic diseases [RCV003097824]|not provided [RCV002293109]uncertain significance48483696084836960Human1name
155803570CV1858132single nucleotide variantNM_014991.6(WDFY3):c.704C>G (p.Ala235Gly)not provided [RCV002462441]uncertain significance48483147884831478Humanname
155803686CV1858252single nucleotide variantNM_014991.6(WDFY3):c.440T>C (p.Met147Thr)not provided [RCV002462561]uncertain significance48483706584837065Humanname
156165541CV1866867single nucleotide variantNM_014991.6(WDFY3):c.787A>T (p.Thr263Ser)not provided [RCV002508419]uncertain significance48482917384829173Humanname
155959212CV1936436single nucleotide variantNM_014991.6(WDFY3):c.6798G>A (p.Ala2266=)not provided [RCV002512252]likely benign48473628784736287Humanname
156153981CV2209488single nucleotide variantNM_014991.6(WDFY3):c.835A>G (p.Ile279Val)Inborn genetic diseases [RCV002697823]uncertain significance48482912584829125Human1name
156332076CV2220621single nucleotide variantNM_014991.6(WDFY3):c.396G>T (p.Leu132Phe)Inborn genetic diseases [RCV002718112]uncertain significance48484117284841172Human1name
156001824CV2284527single nucleotide variantNM_014991.6(WDFY3):c.517G>A (p.Ala173Thr)Inborn genetic diseases [RCV002865426]|WDFY3-related disorder [RCV004538868]likely benign|uncertain significance48483698884836988Human2name , trait
156439961CV2401645single nucleotide variantNM_014991.6(WDFY3):c.601G>C (p.Val201Leu)not provided [RCV003109933]uncertain significance48483158184831581Humanname
329394601CV2472890single nucleotide variantNM_014991.6(WDFY3):c.974A>G (p.Glu325Gly)not provided [RCV003218873]uncertain significance48482696484826964Humanname
329350837CV2477669single nucleotide variantNM_014991.6(WDFY3):c.622G>A (p.Ala208Thr)not provided [RCV003223781]uncertain significance48483156084831560Humanname
329847011CV2524099single nucleotide variantNM_014991.6(WDFY3):c.410G>A (p.Gly137Asp)not specified [RCV003226804]uncertain significance48484115884841158Humanname
401739920CV2738646single nucleotide variantNM_014991.6(WDFY3):c.6246A>G (p.Arg2082=)not provided [RCV003318040]uncertain significance48474040584740405Humanname
401740013CV2738660single nucleotide variantNM_014991.6(WDFY3):c.505G>C (p.Ala169Pro)not provided [RCV003318054]uncertain significance48483700084837000Humanname
401830541CV2748224single nucleotide variantNM_014991.6(WDFY3):c.974A>T (p.Glu325Val)not provided [RCV003329831]uncertain significance48482696484826964Humanname
401905123CV2800459single nucleotide variantNM_014991.6(WDFY3):c.913C>T (p.Arg305Trp)WDFY3-related disorder [RCV004529685]|not provided [RCV003720882]uncertain significance48482904784829047Human1name , trait
401923388CV2822624single nucleotide variantNM_014991.6(WDFY3):c.9306G>A (p.Val3102=)not provided [RCV003435056]likely benign48469056384690563Humanname
401923390CV2822625single nucleotide variantNM_014991.6(WDFY3):c.9165A>G (p.Ala3055=)not provided [RCV003435057]likely benign48469167084691670Humanname
401923391CV2822626single nucleotide variantNM_014991.6(WDFY3):c.8883C>T (p.Phe2961=)not provided [RCV003435058]likely benign48469598884695988Humanname
401928255CV2822627single nucleotide variantNM_014991.6(WDFY3):c.7974A>G (p.Val2658=)not provided [RCV003439374]likely benign48471322784713227Humanname
401923392CV2822628single nucleotide variantNM_014991.6(WDFY3):c.7815A>G (p.Thr2605=)WDFY3-related disorder [RCV004540676]|not provided [RCV003435059]likely benign48471695684716956Human1name , trait
401923394CV2822629single nucleotide variantNM_014991.6(WDFY3):c.7282C>A (p.Arg2428=)not provided [RCV003435060]likely benign48472458584724585Humanname
401928258CV2822630single nucleotide variantNM_014991.6(WDFY3):c.7137G>A (p.Arg2379=)not provided [RCV003439375]likely benign48473346684733466Humanname
401928260CV2822632single nucleotide variantNM_014991.6(WDFY3):c.6036C>T (p.Ser2012=)not provided [RCV003439376]likely benign48474373784743737Humanname
401923397CV2822633single nucleotide variantNM_014991.6(WDFY3):c.5871G>A (p.Pro1957=)not provided [RCV003435062]likely benign48475158584751585Humanname
401928262CV2822634single nucleotide variantNM_014991.6(WDFY3):c.5643C>T (p.Asn1881=)not provided [RCV003439377]likely benign48475379384753793Humanname
401923400CV2822637single nucleotide variantNM_014991.6(WDFY3):c.4458A>G (p.Gly1486=)not provided [RCV003435064]likely benign48477856384778563Humanname
401923401CV2822638single nucleotide variantNM_014991.6(WDFY3):c.3693A>G (p.Pro1231=)not provided [RCV003435065]benign48478769084787690Humanname
401913164CV2830232single nucleotide variantNM_014991.6(WDFY3):c.522G>C (p.Gln174His)not provided [RCV003441447]uncertain significance48483698384836983Humanname
405269333CV3187294single nucleotide variantNM_014991.6(WDFY3):c.976G>T (p.Ala326Ser)not provided [RCV003887378]uncertain significance48482696284826962Humanname
405260281CV3190343single nucleotide variantNM_014991.6(WDFY3):c.317G>A (p.Arg106Gln)WDFY3-related disorder [RCV004536877]uncertain significance48484125184841251Humanname , trait
405283178CV3191275single nucleotide variantNM_014991.6(WDFY3):c.7041C>A (p.Ile2347=)WDFY3-related disorder [RCV004539303]likely benign48473356284733562Humanname , trait
405293487CV3192656single nucleotide variantNM_014991.6(WDFY3):c.3291C>G (p.Pro1097=)WDFY3-related disorder [RCV004532079]likely benign48479471584794715Humanname , trait
405292744CV3193082single nucleotide variantNM_014991.6(WDFY3):c.5124C>T (p.Leu1708=)WDFY3-related disorder [RCV004540980]likely benign48476587484765874Humanname , trait
405274196CV3195023single nucleotide variantNM_014991.6(WDFY3):c.6486G>A (p.Leu2162=)WDFY3-related disorder [RCV004534615]likely benign48473909884739098Humanname , trait
405279749CV3200099single nucleotide variantNM_014991.6(WDFY3):c.6981A>G (p.Lys2327=)WDFY3-related disorder [RCV004542488]likely benign48473505584735055Humanname , trait
405268869CV3201183single nucleotide variantNM_014991.6(WDFY3):c.8745C>T (p.Phe2915=)WDFY3-related disorder [RCV004531855]likely benign48469612684696126Humanname , trait
405291015CV3203666single nucleotide variantNM_014991.6(WDFY3):c.401C>T (p.Ala134Val)WDFY3-related disorder [RCV004532262]uncertain significance48484116784841167Humanname , trait
405275123CV3204595single nucleotide variantNM_014991.6(WDFY3):c.8505G>A (p.Ala2835=)WDFY3-related disorder [RCV004543995]benign48470244484702444Humanname , trait
405289637CV3205232single nucleotide variantNM_014991.6(WDFY3):c.4299C>T (p.Ala1433=)WDFY3-related disorder [RCV004544129]likely benign48478017484780174Humanname , trait
405256124CV3208690single nucleotide variantNM_014991.6(WDFY3):c.7650C>T (p.Thr2550=)WDFY3-related disorder [RCV004532256]likely benign48471852684718526Humanname , trait
405294542CV3209012single nucleotide variantNM_014991.6(WDFY3):c.8385T>A (p.Ile2795=)WDFY3-related disorder [RCV004542380]benign48470439584704395Humanname , trait
405287912CV3214676single nucleotide variantNM_014991.6(WDFY3):c.9663G>A (p.Ser3221=)WDFY3-related disorder [RCV004532170]benign48468400684684006Humanname , trait
405294272CV3214730single nucleotide variantNM_014991.6(WDFY3):c.8613C>T (p.Gly2871=)WDFY3-related disorder [RCV004532174]likely benign48469680784696807Humanname , trait
405283224CV3218531single nucleotide variantNM_014991.6(WDFY3):c.7302T>C (p.Ser2434=)WDFY3-related disorder [RCV004545527]likely benign48472456584724565Humanname , trait
405289633CV3220974single nucleotide variantNM_014991.6(WDFY3):c.5583A>G (p.Gly1861=)WDFY3-related disorder [RCV004545609]likely benign48475385384753853Humanname , trait
405281632CV3224251single nucleotide variantNM_014991.6(WDFY3):c.5424G>A (p.Gln1808=)WDFY3-related disorder [RCV003988633]not provided48475692684756926Humanname , trait
405802055CV3349012deletionNM_014991.6(WDFY3):c.2883del (p.Lys961fs)Inborn genetic diseases [RCV004478087]pathogenic48479804884798048Human1name
405801934CV3349015single nucleotide variantNM_014991.6(WDFY3):c.388A>G (p.Ile130Val)Inborn genetic diseases [RCV004478090]uncertain significance48484118084841180Human1name
407425098CV3411105single nucleotide variantNM_014991.6(WDFY3):c.392A>G (p.Asn131Ser)not provided [RCV004588795]uncertain significance48484117684841176Humanname
408367582CV3509033single nucleotide variantNM_014991.6(WDFY3):c.5313C>G (p.Ala1771=)WDFY3-related disorder [RCV004758993]likely benign48475703784757037Humanname , trait
408386949CV3518624single nucleotide variantNM_014991.6(WDFY3):c.6339A>G (p.Gln2113=)not provided [RCV004760943]uncertain significance48474031284740312Humanname
408387622CV3518914single nucleotide variantNM_014991.6(WDFY3):c.5406G>A (p.Arg1802=)not provided [RCV004761233]uncertain significance48475694484756944Humanname
408390703CV3520973single nucleotide variantNM_014991.6(WDFY3):c.533C>A (p.Pro178His)not provided [RCV004762795]uncertain significance48483697284836972Humanname
408381116CV3523766single nucleotide variantNM_014991.6(WDFY3):c.867C>G (p.Phe289Leu)not provided [RCV004766164]uncertain significance48482909384829093Humanname
596925424CV3530472single nucleotide variantNM_014991.6(WDFY3):c.607C>T (p.Pro203Ser)not provided [RCV004778057]uncertain significance48483157584831575Humanname
596942532CV3544151single nucleotide variantNM_014991.6(WDFY3):c.6822C>G (p.Ser2274=)not specified [RCV004800142]likely benign48473626384736263Humanname
597632096CV3552778single nucleotide variantNM_014991.6(WDFY3):c.661A>G (p.Thr221Ala)not provided [RCV004823606]uncertain significance48483152184831521Humanname
597630340CV3623802single nucleotide variantNM_014991.6(WDFY3):c.706G>A (p.Gly236Arg)Inborn genetic diseases [RCV004967292]uncertain significance48483147684831476Human1name
597717051CV3733313single nucleotide variantNM_014991.6(WDFY3):c.515G>C (p.Gly172Ala)not provided [RCV005052503]uncertain significance48483699084836990Humanname
597935483CV3863693single nucleotide variantNM_014991.6(WDFY3):c.760T>C (p.Tyr254His)not provided [RCV005207506]uncertain significance48483142284831422Humanname
598123452CV3890345single nucleotide variantNM_014991.6(WDFY3):c.330G>T (p.Gln110His)not provided [RCV005250864]uncertain significance48484123884841238Humanname
13518816CV486360single nucleotide variantNM_014991.6(WDFY3):c.676C>G (p.Pro226Ala)not provided [RCV000585135]uncertain significance48483150684831506Humanname
15168518CV698660single nucleotide variantNM_014991.6(WDFY3):c.383C>T (p.Thr128Met)not provided [RCV000949274]benign48484118584841185Humanname
15127019CV709488single nucleotide variantNM_014991.6(WDFY3):c.8028G>A (p.Thr2676=)WDFY3-related disorder [RCV004543613]|not provided [RCV000963834]benign48471317384713173Human1name , trait
15192738CV734746single nucleotide variantNM_014991.6(WDFY3):c.9546G>A (p.Gly3182=)not provided [RCV000910631]likely benign48468412384684123Humanname
15141231CV749089single nucleotide variantNM_014991.6(WDFY3):c.6690C>T (p.His2230=)WDFY3-related disorder [RCV004543460]|not provided [RCV000921808]benign|likely benign48473725184737251Human1name , trait
38598498CV964236single nucleotide variantNM_014991.6(WDFY3):c.749A>G (p.Asn250Ser)Neurodevelopmental delay [RCV001780203]|not provided [RCV003166578]likely pathogenic|uncertain significance48483143384831433Human1name
126737794CV1016446single nucleotide variantNM_014991.6(WDFY3):c.1150T>G (p.Phe384Val)Microcephaly 18, primary, autosomal dominant [RCV001328824]uncertain significance48482152584821525Human1name
150414353CV1197248single nucleotide variantNM_014991.6(WDFY3):c.2941A>C (p.Met981Leu)Inborn genetic diseases [RCV004039432]|not provided [RCV001574919]uncertain significance48479674784796747Human1name
150555112CV1295926single nucleotide variantNM_014991.6(WDFY3):c.2689G>A (p.Glu897Lys)not provided [RCV001772435]uncertain significance48480178384801783Humanname
150530792CV1299091deletionNM_014991.6(WDFY3):c.4640del (p.Pro1547fs)not provided [RCV001756784]uncertain significance48477493484774934Humanname
150534570CV1300652single nucleotide variantNM_014991.6(WDFY3):c.1309C>T (p.Leu437Phe)not provided [RCV001758780]uncertain significance48482136684821366Humanname
150542042CV1302468single nucleotide variantNM_014991.6(WDFY3):c.2128A>T (p.Ile710Phe)not provided [RCV001761158]uncertain significance48481010484810104Humanname
150554608CV1304324single nucleotide variantNM_014991.6(WDFY3):c.1475A>G (p.His492Arg)not provided [RCV001771294]uncertain significance48482120084821200Humanname
151234803CV1320524single nucleotide variantNM_014991.6(WDFY3):c.2171G>C (p.Cys724Ser)not provided [RCV001800148]uncertain significance48481006184810061Humanname
151741168CV1392392single nucleotide variantNM_014991.6(WDFY3):c.1316A>C (p.Glu439Ala)not provided [RCV001871035]uncertain significance48482135984821359Humanname
151825452CV1452920single nucleotide variantNM_014991.6(WDFY3):c.1613C>T (p.Ser538Leu)not provided [RCV002050211]uncertain significance48482016584820165Humanname
153302061CV1688047single nucleotide variantNM_014991.6(WDFY3):c.1445C>T (p.Ala482Val)not provided [RCV002265273]uncertain significance48482123084821230Humanname
153348132CV1695181single nucleotide variantNM_014991.6(WDFY3):c.2477A>G (p.Asn826Ser)not provided [RCV002279112]uncertain significance48480342084803420Humanname
155267004CV1696449single nucleotide variantNM_014991.6(WDFY3):c.1190G>T (p.Ser397Ile)not provided [RCV002281307]uncertain significance48482148584821485Humanname
155266687CV1699252single nucleotide variantNM_014991.6(WDFY3):c.1000G>A (p.Asp334Asn)not provided [RCV002283047]uncertain significance48482693884826938Humanname
155641723CV1707113single nucleotide variantNM_014991.6(WDFY3):c.1199C>A (p.Ala400Asp)not provided [RCV002288043]uncertain significance48482147684821476Humanname
155643646CV1707999single nucleotide variantNM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)Microcephaly 18, primary, autosomal dominant [RCV002289460]likely pathogenic48480168784801687Human1name
9687005CV171384single nucleotide variantNM_014991.6(WDFY3):c.2630C>A (p.Ala877Asp)Prostate cancer [RCV000149224]uncertain significance48480184284801842Human2name
155714464CV1760350single nucleotide variantNM_014991.6(WDFY3):c.1547A>T (p.Tyr516Phe)not provided [RCV002300856]uncertain significance48482112884821128Humanname
155798250CV1863513single nucleotide variantNM_014991.6(WDFY3):c.2099C>T (p.Pro700Leu)not provided [RCV002473408]uncertain significance48481013384810133Humanname
156168389CV1866983single nucleotide variantNM_014991.6(WDFY3):c.2725A>T (p.Ser909Cys)not provided [RCV002508535]uncertain significance48480174784801747Humanname
156212754CV2088724single nucleotide variantNM_014991.6(WDFY3):c.1838T>C (p.Met613Thr)not provided [RCV002893863]uncertain significance48481744184817441Humanname
156249981CV2192747single nucleotide variantNM_014991.6(WDFY3):c.1331A>C (p.Tyr444Ser)not provided [RCV003059989]uncertain significance48482134484821344Humanname
156380467CV2208836single nucleotide variantNM_014991.6(WDFY3):c.1141G>A (p.Val381Ile)Inborn genetic diseases [RCV002678600]likely benign48482153484821534Human1name
156044990CV2215975deletionNM_014991.6(WDFY3):c.9597del (p.Asn3200fs)Inborn genetic diseases [RCV002692509]pathogenic48468407284684072Human1name
156280627CV2224192single nucleotide variantNM_014991.6(WDFY3):c.2968A>G (p.Thr990Ala)Inborn genetic diseases [RCV002747075]uncertain significance48479672084796720Human1name
156300562CV2244931single nucleotide variantNM_014991.6(WDFY3):c.2963T>C (p.Leu988Pro)Inborn genetic diseases [RCV002748504]uncertain significance48479672584796725Human1name
156234183CV2245322single nucleotide variantNM_014991.6(WDFY3):c.2455C>A (p.Pro819Thr)Inborn genetic diseases [RCV002767850]uncertain significance48480344284803442Human1name
156335894CV2273063single nucleotide variantNM_014991.6(WDFY3):c.2393C>T (p.Pro798Leu)Inborn genetic diseases [RCV002835742]likely benign48480837084808370Human1name
156031430CV2274929single nucleotide variantNM_014991.6(WDFY3):c.2857G>A (p.Gly953Ser)Inborn genetic diseases [RCV002845411]uncertain significance48479807484798074Human1name
155920167CV2279549single nucleotide variantNM_014991.6(WDFY3):c.1103T>G (p.Val368Gly)Inborn genetic diseases [RCV002859560]uncertain significance48482683584826835Human1name
156128007CV2283842single nucleotide variantNM_014991.6(WDFY3):c.2639A>G (p.Asn880Ser)Inborn genetic diseases [RCV002849506]uncertain significance48480183384801833Human1name
155954255CV2303332single nucleotide variantNM_014991.6(WDFY3):c.2288G>A (p.Arg763Gln)Inborn genetic diseases [RCV002905398]uncertain significance48480994484809944Human1name
156002911CV2347731single nucleotide variantNM_014991.6(WDFY3):c.1400G>A (p.Ser467Asn)Inborn genetic diseases [RCV002997137]uncertain significance48482127584821275Human1name
156158557CV2363941single nucleotide variantNM_014991.6(WDFY3):c.1898C>T (p.Ser633Leu)Inborn genetic diseases [RCV002698103]uncertain significance48481033484810334Human1name
156042524CV2387842single nucleotide variantNM_014991.6(WDFY3):c.1777A>C (p.Ile593Leu)Inborn genetic diseases [RCV002758850]likely benign48481750284817502Human1name
156439937CV2401619single nucleotide variantNM_014991.6(WDFY3):c.1471A>G (p.Arg491Gly)not provided [RCV003109907]uncertain significance48482120484821204Humanname
156440031CV2401715single nucleotide variantNM_014991.6(WDFY3):c.2322A>C (p.Lys774Asn)not provided [RCV003110003]uncertain significance48480991084809910Humanname
243051620CV2403987single nucleotide variantNM_014991.6(WDFY3):c.1574A>G (p.Gln525Arg)not provided [RCV003129041]uncertain significance48482110184821101Humanname
243059303CV2405929deletionNM_014991.6(WDFY3):c.8693del (p.Leu2898fs)Microcephaly 18, primary, autosomal dominant [RCV003134773]likely pathogenic48469617884696178Human1name
243062043CV2414248single nucleotide variantNM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe)Microcephaly 18, primary, autosomal dominant [RCV003139317]uncertain significance48481748784817487Human1name
243049919CV2419487single nucleotide variantNM_014991.6(WDFY3):c.2143T>G (p.Leu715Val)not provided [RCV003156419]uncertain significance48481008984810089Humanname
329375787CV2441128single nucleotide variantNM_014991.6(WDFY3):c.2395T>G (p.Ser799Ala)Inborn genetic diseases [RCV003185858]uncertain significance48480836884808368Human1name
329387898CV2471086single nucleotide variantNM_014991.6(WDFY3):c.1860A>C (p.Glu620Asp)Inborn genetic diseases [RCV003215493]uncertain significance48481741984817419Human1name
329394956CV2472987single nucleotide variantNM_014991.6(WDFY3):c.2015G>T (p.Gly672Val)not provided [RCV003218970]uncertain significance48481021784810217Humanname
329848557CV2523301single nucleotide variantNM_014991.6(WDFY3):c.2704G>A (p.Ala902Thr)not provided [RCV003225315]uncertain significance48480176884801768Humanname
329847459CV2524295single nucleotide variantNM_014991.6(WDFY3):c.2335T>C (p.Ser779Pro)not provided [RCV003227187]uncertain significance48480989784809897Humanname
329953578CV2668490single nucleotide variantNM_014991.6(WDFY3):c.1541A>G (p.His514Arg)not provided [RCV003230143]uncertain significance48482113484821134Humanname
329953931CV2669273single nucleotide variantNM_014991.6(WDFY3):c.1690G>A (p.Ala564Thr)not provided [RCV003231779]uncertain significance48482008884820088Humanname
329954907CV2670839single nucleotide variantNM_014991.6(WDFY3):c.1703G>A (p.Arg568Gln)not provided [RCV003236107]uncertain significance48481757684817576Humanname
401732949CV2685380single nucleotide variantNM_014991.6(WDFY3):c.2287C>T (p.Arg763Trp)Inborn genetic diseases [RCV003249049]likely benign48480994584809945Human1name
401722704CV2703469single nucleotide variantNM_014991.6(WDFY3):c.2747A>G (p.Asp916Gly)Inborn genetic diseases [RCV003268104]uncertain significance48480172584801725Human1name
401732592CV2708899single nucleotide variantNM_014991.6(WDFY3):c.2410C>G (p.Pro804Ala)Inborn genetic diseases [RCV003272078]uncertain significance48480835384808353Human1name
401726699CV2736161single nucleotide variantNM_014991.6(WDFY3):c.1469C>T (p.Thr490Ile)not provided [RCV003312608]likely benign48482120684821206Humanname
401796791CV2739766single nucleotide variantNM_014991.6(WDFY3):c.1919G>C (p.Arg640Pro)WDFY3-related disorder [RCV004529624]|not provided [RCV003319727]uncertain significance48481031384810313Human1name , trait
401798990CV2741565single nucleotide variantNM_014991.6(WDFY3):c.2966G>T (p.Gly989Val)not provided [RCV003322973]uncertain significance48479672284796722Humanname
401799147CV2741724single nucleotide variantNM_014991.6(WDFY3):c.2764C>T (p.Pro922Ser)not provided [RCV003323132]uncertain significance48480170884801708Humanname
401892087CV2777218single nucleotide variantNM_014991.6(WDFY3):c.1235T>C (p.Met412Thr)Inborn genetic diseases [RCV003369769]uncertain significance48482144084821440Human1name
401868092CV2787738single nucleotide variantNM_014991.6(WDFY3):c.1468A>G (p.Thr490Ala)Inborn genetic diseases [RCV003360397]uncertain significance48482120784821207Human1name
401937818CV2797120single nucleotide variantNM_014991.6(WDFY3):c.2392C>G (p.Pro798Ala)WDFY3-related disorder [RCV004528695]uncertain significance48480837184808371Humanname , trait
401923350CV2822622single nucleotide variantNM_014991.6(WDFY3):c.10467C>G (p.Arg3489=)not provided [RCV003435054]likely benign48467298284672982Humanname
401928267CV2822642single nucleotide variantNM_014991.6(WDFY3):c.2455C>T (p.Pro819Ser)not provided [RCV003439380]benign48480344284803442Humanname
401923406CV2822643single nucleotide variantNM_014991.6(WDFY3):c.2311T>A (p.Tyr771Asn)not provided [RCV003435068]uncertain significance48480992184809921Humanname
401928269CV2822645single nucleotide variantNM_014991.6(WDFY3):c.2309T>A (p.Ile770Asn)not provided [RCV003439381]uncertain significance48480992384809923Humanname
401928271CV2822646single nucleotide variantNM_014991.6(WDFY3):c.1435A>G (p.Ser479Gly)not provided [RCV003439382]likely benign48482124084821240Humanname
401923410CV2822648single nucleotide variantNM_014991.6(WDFY3):c.1247C>G (p.Ala416Gly)Inborn genetic diseases [RCV005301297]|not provided [RCV003435071]uncertain significance48482142884821428Human1name
401944762CV2840512single nucleotide variantNM_014991.6(WDFY3):c.10467C>T (p.Arg3489=)not provided [RCV003457420]likely benign48467298284672982Humanname
404999530CV2851521single nucleotide variantNM_014991.6(WDFY3):c.2282C>T (p.Thr761Met)Microcephaly 18, primary, autosomal dominant [RCV003493220]|WDFY3-related disorder [RCV004536827]likely benign48480995084809950Human1name , trait
402499081CV2871958single nucleotide variantNM_014991.6(WDFY3):c.2609A>T (p.His870Leu)Inborn genetic diseases [RCV004963689]|not provided [RCV003545717]uncertain significance48480186384801863Human1name
405266370CV3186624single nucleotide variantNM_014991.6(WDFY3):c.2860G>T (p.Ala954Ser)not provided [RCV003886705]uncertain significance48479807184798071Humanname
405268557CV3198997single nucleotide variantNM_014991.6(WDFY3):c.1204A>G (p.Ile402Val)WDFY3-related disorder [RCV004537057]likely benign48482147184821471Humanname , trait
405802067CV3349006single nucleotide variantNM_014991.6(WDFY3):c.1243A>G (p.Asn415Asp)Inborn genetic diseases [RCV004478081]uncertain significance48482143284821432Human1name
405802061CV3349009single nucleotide variantNM_014991.6(WDFY3):c.1309C>G (p.Leu437Val)Inborn genetic diseases [RCV004478084]uncertain significance48482136684821366Human1name
405802059CV3349010single nucleotide variantNM_014991.6(WDFY3):c.2080G>A (p.Ala694Thr)Inborn genetic diseases [RCV004478085]uncertain significance48481015284810152Human1name
405802057CV3349011single nucleotide variantNM_014991.6(WDFY3):c.2196C>A (p.Ser732Arg)Inborn genetic diseases [RCV004478086]uncertain significance48481003684810036Human1name
405853923CV3395335deletionNM_014991.6(WDFY3):c.9662del (p.Ser3221fs)Microcephaly 18, primary, autosomal dominant [RCV004555472]uncertain significance48468400784684007Human1name
407465220CV3489602single nucleotide variantNM_014991.6(WDFY3):c.2498A>G (p.His833Arg)Inborn genetic diseases [RCV004688711]|Microcephaly 18, primary, autosomal dominant [RCV005392853]likely benign48480339984803399Human2name
407451162CV3489605single nucleotide variantNM_014991.6(WDFY3):c.1996A>T (p.Ser666Cys)Inborn genetic diseases [RCV004683569]uncertain significance48481023684810236Human1name
407451165CV3489606single nucleotide variantNM_014991.6(WDFY3):c.2000G>C (p.Cys667Ser)Inborn genetic diseases [RCV004683570]likely benign48481023284810232Human1name
407451167CV3489607single nucleotide variantNM_014991.6(WDFY3):c.2001T>G (p.Cys667Trp)Inborn genetic diseases [RCV004683571]uncertain significance48481023184810231Human1name
407451175CV3489610single nucleotide variantNM_014991.6(WDFY3):c.2946C>G (p.Ile982Met)Inborn genetic diseases [RCV004683574]uncertain significance48479674284796742Human1name
407451186CV3489614single nucleotide variantNM_014991.6(WDFY3):c.1799C>A (p.Pro600Gln)Inborn genetic diseases [RCV004683578]uncertain significance48481748084817480Human1name
407451188CV3489615single nucleotide variantNM_014991.6(WDFY3):c.2629G>C (p.Ala877Pro)Inborn genetic diseases [RCV004683579]uncertain significance48480184384801843Human1name
407572681CV3497163duplicationNM_014991.6(WDFY3):c.5525dup (p.Leu1842fs)not provided [RCV004698983]uncertain significance48475529984755300Humanname
408373110CV3502130single nucleotide variantNM_014991.6(WDFY3):c.1951T>G (p.Phe651Val)not provided [RCV004725717]uncertain significance48481028184810281Humanname
408373333CV3502232single nucleotide variantNM_014991.6(WDFY3):c.2565G>A (p.Met855Ile)not provided [RCV004725819]uncertain significance48480333284803332Humanname
408385810CV3520362single nucleotide variantNM_014991.6(WDFY3):c.2866G>A (p.Asp956Asn)not provided [RCV004760183]uncertain significance48479806584798065Humanname
408385948CV3520435single nucleotide variantNM_014991.6(WDFY3):c.1813G>A (p.Asp605Asn)not provided [RCV004760256]uncertain significance48481746684817466Humanname
408387771CV3520476single nucleotide variantNM_014991.6(WDFY3):c.2110C>G (p.His704Asp)not provided [RCV004761308]uncertain significance48481012284810122Humanname
408388420CV3520788single nucleotide variantNM_014991.6(WDFY3):c.2222C>T (p.Thr741Ile)not provided [RCV004761621]uncertain significance48481001084810010Humanname
408390885CV3521063single nucleotide variantNM_014991.6(WDFY3):c.2237G>A (p.Arg746Lys)not provided [RCV004762885]uncertain significance48480999584809995Humanname
408391007CV3521150single nucleotide variantNM_014991.6(WDFY3):c.1931T>A (p.Val644Asp)not provided [RCV004762972]uncertain significance48481030184810301Humanname
408391621CV3521390single nucleotide variantNM_014991.6(WDFY3):c.2013T>G (p.Asn671Lys)not provided [RCV004763212]uncertain significance48481021984810219Humanname
408391444CV3523195single nucleotide variantNM_014991.6(WDFY3):c.2098C>G (p.Pro700Ala)not provided [RCV004770567]uncertain significance48481013484810134Humanname
408391483CV3523216single nucleotide variantNM_014991.6(WDFY3):c.1379G>A (p.Cys460Tyr)not provided [RCV004770588]uncertain significance48482129684821296Humanname
408381776CV3523974single nucleotide variantNM_014991.6(WDFY3):c.2230T>C (p.Phe744Leu)not provided [RCV004766372]uncertain significance48481000284810002Humanname
408390941CV3527810single nucleotide variantNM_014991.6(WDFY3):c.2813T>C (p.Met938Thr)not provided [RCV004775079]uncertain significance48480165984801659Humanname
408386120CV3528804single nucleotide variantNM_014991.6(WDFY3):c.2707C>T (p.Arg903Ter)not provided [RCV004772637]pathogenic48480176584801765Humanname
596930884CV3529751single nucleotide variantNM_014991.6(WDFY3):c.1567C>T (p.Pro523Ser)not provided [RCV004780801]uncertain significance48482110884821108Humanname
596926975CV3530903single nucleotide variantNM_014991.6(WDFY3):c.2903C>T (p.Pro968Leu)not provided [RCV004778488]uncertain significance48479802884798028Humanname
596931243CV3531576single nucleotide variantNM_014991.6(WDFY3):c.2343C>A (p.Asp781Glu)not provided [RCV004781138]uncertain significance48480988984809889Humanname
596927784CV3532693single nucleotide variantNM_014991.6(WDFY3):c.2327C>T (p.Ala776Val)not provided [RCV004778791]uncertain significance48480990584809905Humanname
596921235CV3534853single nucleotide variantNM_014991.6(WDFY3):c.1570A>T (p.Thr524Ser)not provided [RCV004784411]uncertain significance48482110584821105Humanname
596925897CV3535996single nucleotide variantNM_014991.6(WDFY3):c.2647C>T (p.Gln883Ter)Neurodevelopmental disorder [RCV004788426]likely pathogenic48480182584801825Human1name
596922282CV3537080single nucleotide variantNM_014991.6(WDFY3):c.1544A>G (p.Lys515Arg)not provided [RCV004786075]uncertain significance48482113184821131Humanname
596922628CV3537317single nucleotide variantNM_014991.6(WDFY3):c.2476A>C (p.Asn826His)not provided [RCV004787287]uncertain significance48480342184803421Humanname
596923106CV3537558single nucleotide variantNM_014991.6(WDFY3):c.2626C>G (p.Leu876Val)not provided [RCV004787528]uncertain significance48480184684801846Humanname
597630295CV3623791single nucleotide variantNM_014991.6(WDFY3):c.2833C>T (p.Arg945Cys)Inborn genetic diseases [RCV004967281]uncertain significance48479809884798098Human1name
597630301CV3623792single nucleotide variantNM_014991.6(WDFY3):c.2461G>T (p.Val821Phe)Inborn genetic diseases [RCV004967282]uncertain significance48480343684803436Human1name
597630321CV3623797single nucleotide variantNM_014991.6(WDFY3):c.1696A>G (p.Ile566Val)Inborn genetic diseases [RCV004967287]uncertain significance48481758384817583Human1name
597630326CV3623798single nucleotide variantNM_014991.6(WDFY3):c.1217C>G (p.Ala406Gly)Inborn genetic diseases [RCV004967288]uncertain significance48482145884821458Human1name
597630392CV3623814single nucleotide variantNM_014991.6(WDFY3):c.2506A>G (p.Thr836Ala)Inborn genetic diseases [RCV004967304]uncertain significance48480339184803391Human1name
597846363CV3880624single nucleotide variantNM_014991.6(WDFY3):c.1394G>A (p.Ser465Asn)not provided [RCV005227512]uncertain significance48482128184821281Humanname
598125221CV3883875single nucleotide variantNM_014991.6(WDFY3):c.1928C>T (p.Thr643Ile)not provided [RCV005236230]uncertain significance48481030484810304Humanname
598122541CV3884472single nucleotide variantNM_014991.6(WDFY3):c.2530G>A (p.Ala844Thr)not specified [RCV005237164]uncertain significance48480336784803367Humanname
598122653CV3884585single nucleotide variantNM_014991.6(WDFY3):c.1961T>C (p.Ile654Thr)not specified [RCV005237277]uncertain significance48481027184810271Humanname
598126448CV3886277single nucleotide variantNM_014991.6(WDFY3):c.2614T>G (p.Leu872Val)not provided [RCV005242080]uncertain significance48480185884801858Humanname
598123434CV3890338single nucleotide variantNM_014991.6(WDFY3):c.1549G>T (p.Ala517Ser)not provided [RCV005250857]uncertain significance48482112684821126Humanname
598257051CV3936882single nucleotide variantNM_014991.6(WDFY3):c.2578G>T (p.Ala860Ser)Inborn genetic diseases [RCV005299738]uncertain significance48480331984803319Human1name
598219093CV3936884single nucleotide variantNM_014991.6(WDFY3):c.1918C>T (p.Arg640Cys)Inborn genetic diseases [RCV005293266]uncertain significance48481031484810314Human1name
598219101CV3936885single nucleotide variantNM_014991.6(WDFY3):c.1043G>A (p.Ser348Asn)Inborn genetic diseases [RCV005293267]likely benign48482689584826895Human1name
598219124CV3936890single nucleotide variantNM_014991.6(WDFY3):c.1975G>A (p.Val659Ile)Inborn genetic diseases [RCV005293271]uncertain significance48481025784810257Human1name
598257060CV3936891single nucleotide variantNM_014991.6(WDFY3):c.2308A>G (p.Ile770Val)Inborn genetic diseases [RCV005299740]uncertain significance48480992484809924Human1name
598257063CV3936892single nucleotide variantNM_014991.6(WDFY3):c.2602C>G (p.Pro868Ala)Inborn genetic diseases [RCV005299741]uncertain significance48480329584803295Human1name
598219131CV3936895single nucleotide variantNM_014991.6(WDFY3):c.1046A>C (p.Glu349Ala)Inborn genetic diseases [RCV005293273]uncertain significance48482689284826892Human1name
598257081CV3936898single nucleotide variantNM_014991.6(WDFY3):c.1576G>A (p.Ala526Thr)Inborn genetic diseases [RCV005299745]uncertain significance48482109984821099Human1name
598189922CV4008764single nucleotide variantNM_014991.6(WDFY3):c.2990A>G (p.His997Arg)Microcephaly 18, primary, autosomal dominant [RCV005396263]uncertain significance48479669884796698Human1name
616935432CV4016046single nucleotide variantNM_014991.6(WDFY3):c.1784A>G (p.Gln595Arg)not provided [RCV005414910]uncertain significance48481749584817495Humanname
617153690CV4016765single nucleotide variantNM_014991.6(WDFY3):c.2408C>T (p.Thr803Ile)not provided [RCV005415862]uncertain significance48480835584808355Humanname
15123678CV749090single nucleotide variantNM_014991.6(WDFY3):c.1856C>T (p.Thr619Met)Inborn genetic diseases [RCV002540944]|Microcephaly 18, primary, autosomal dominant [RCV005392547]|WDFY3-related disorder [RCV004543448]|not provided [RCV000918862]likely benign|uncertain significance48481742384817423Human2name , trait
38597025CV801806single nucleotide variantNM_014991.6(WDFY3):c.1483A>G (p.Ile495Val)Microcephaly [RCV001252818]uncertain significance48482119284821192Human2name
38596919CV963569single nucleotide variantNM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro)Microcephaly 18, primary, autosomal dominant [RCV001252630]likely pathogenic48482010884820108Human1name
39456428CV965484single nucleotide variantNM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)Microcephaly 18, primary, autosomal dominant [RCV003142228]uncertain significance48480841684808416Human1name
39456768CV965963single nucleotide variantNM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr)Microcephaly 18, primary, autosomal dominant [RCV001255807]likely benign48482152284821522Human1name
40887567CV973432single nucleotide variantNM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter)Inborn genetic diseases [RCV001267185]pathogenic48481007484810074Human1name
40886722CV973433single nucleotide variantNM_014991.6(WDFY3):c.1900G>C (p.Val634Leu)Inborn genetic diseases [RCV001265949]uncertain significance48481033284810332Human1name
42723468CV984311single nucleotide variantNM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)Autism spectrum disorder [RCV001291370]likely pathogenic48479799984797999Human2name
126745116CV1016442single nucleotide variantNM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter)Microcephaly 18, primary, autosomal dominant [RCV001330590]likely pathogenic48470544284705442Human1name
126745112CV1016443single nucleotide variantNM_014991.6(WDFY3):c.7910G>A (p.Arg2637Gln)Microcephaly 18, primary, autosomal dominant [RCV001330589]uncertain significance48471534984715349Human1name
126737804CV1016444single nucleotide variantNM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val)Microcephaly 18, primary, autosomal dominant [RCV001328826]uncertain significance48473732284737322Human1name
126737798CV1016445single nucleotide variantNM_014991.6(WDFY3):c.6398C>T (p.Pro2133Leu)Microcephaly 18, primary, autosomal dominant [RCV001328825]uncertain significance48474025384740253Human1name
126731696CV1020019single nucleotide variantNM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn)Microcephaly 18, primary, autosomal dominant [RCV001333798]uncertain significance48469052284690522Human1name
126910935CV1037514single nucleotide variantNM_014991.6(WDFY3):c.9155G>C (p.Trp3052Ser)not provided [RCV001354811]uncertain significance48469168084691680Humanname
127244068CV1053747single nucleotide variantNM_014991.6(WDFY3):c.8474T>G (p.Phe2825Cys)Microcephaly 18, primary, autosomal dominant [RCV001375984]uncertain significance48470247584702475Human1name
150338423CV1174117single nucleotide variantNM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp)Microcephaly 18, primary, autosomal dominant [RCV001542346]|not provided [RCV003442890]uncertain significance48475694684756946Human1name
150419048CV1197247single nucleotide variantNM_014991.6(WDFY3):c.8941C>T (p.Arg2981Ter)not provided [RCV001577003]pathogenic|likely pathogenic48469299384692993Humanname
150453061CV1203725single nucleotide variantNM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly)Microcephaly 18, primary, autosomal dominant [RCV001591681]uncertain significance48474033484740334Human1name
150453110CV1203735single nucleotide variantNM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser)Microcephaly 18, primary, autosomal dominant [RCV001591691]uncertain significance48469170184691701Human1name
150433661CV1243757single nucleotide variantNM_014991.6(WDFY3):c.8094G>A (p.Trp2698Ter)not provided [RCV001664963]pathogenic48470929684709296Humanname
150507205CV1244507single nucleotide variantNM_014991.6(WDFY3):c.4478C>G (p.Pro1493Arg)not provided [RCV001658756]uncertain significance48477854384778543Humanname
150529585CV1288823single nucleotide variantNM_014991.6(WDFY3):c.7471C>T (p.Arg2491Ter)not provided [RCV001727291]likely pathogenic|conflicting interpretations of pathogenicity48472154384721543Humanname
150529667CV1289249single nucleotide variantNM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn)Microcephaly 18, primary, autosomal dominant [RCV001728081]uncertain significance48468818084688180Human1name
150546146CV1296143single nucleotide variantNM_014991.6(WDFY3):c.8929C>T (p.Arg2977Ter)not provided [RCV001763433]uncertain significance48469300584693005Humanname
150546460CV1296231single nucleotide variantNM_014991.6(WDFY3):c.6317C>T (p.Ala2106Val)not provided [RCV001763521]uncertain significance48474033484740334Humanname
150527874CV1300875duplicationNM_014991.6(WDFY3):c.7200dup (p.Glu2401Ter)not provided [RCV001754735]uncertain significance48473340284733403Humanname
150552249CV1301188single nucleotide variantNM_014991.6(WDFY3):c.8915C>T (p.Pro2972Leu)not provided [RCV001767598]uncertain significance48469301984693019Humanname
150553581CV1303590single nucleotide variantNM_014991.6(WDFY3):c.8104G>A (p.Glu2702Lys)not provided [RCV001769280]uncertain significance48470902284709022Humanname
150553591CV1303601single nucleotide variantNM_014991.6(WDFY3):c.4192C>G (p.Pro1398Ala)not provided [RCV001769291]uncertain significance48478028184780281Humanname
150554734CV1304464single nucleotide variantNM_014991.6(WDFY3):c.7222T>A (p.Ser2408Thr)not provided [RCV001771434]uncertain significance48472691184726911Humanname
150555677CV1304832single nucleotide variantNM_014991.6(WDFY3):c.3760G>A (p.Ala1254Thr)not provided [RCV001773080]uncertain significance48478762384787623Humanname
150555772CV1304937single nucleotide variantNM_014991.6(WDFY3):c.6626A>C (p.His2209Pro)not provided [RCV001773185]uncertain significance48473731584737315Humanname
150532893CV1310915single nucleotide variantNM_014991.6(WDFY3):c.7900G>A (p.Gly2634Arg)not provided [RCV001776649]uncertain significance48471535984715359Humanname
150536126CV1312292single nucleotide variantNM_014991.6(WDFY3):c.7676A>G (p.Lys2559Arg)Neurodevelopmental disorder [RCV001780054]uncertain significance48471850084718500Human1name
150545581CV1315772single nucleotide variantNM_014991.6(WDFY3):c.4828A>C (p.Asn1610His)Microcephaly 18, primary, autosomal dominant [RCV001784103]uncertain significance48477285684772856Human1name
150547252CV1315854single nucleotide variantNM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala)Microcephaly 18, primary, autosomal dominant [RCV001785204]uncertain significance48474028184740281Human1name
150547333CV1315976single nucleotide variantNM_014991.6(WDFY3):c.6610T>C (p.Trp2204Arg)Neurodevelopmental delay [RCV001785252]likely pathogenic48473733184737331Human1name
150547355CV1315986single nucleotide variantNM_014991.6(WDFY3):c.7672G>A (p.Gly2558Ser)Neurodevelopmental delay [RCV001785262]likely pathogenic48471850484718504Human1name
150547407CV1316009single nucleotide variantNM_014991.6(WDFY3):c.5242C>T (p.Arg1748Ter)Microcephaly 18, primary, autosomal dominant [RCV003326158]|Neurodevelopmental delay [RCV001785285]likely pathogenic|uncertain significance48475710884757108Human2name
151233074CV1317707single nucleotide variantNM_014991.6(WDFY3):c.9832G>A (p.Ala3278Thr)not provided [RCV001787473]uncertain significance48467923484679234Humanname
151234260CV1320209single nucleotide variantNM_014991.6(WDFY3):c.3548G>T (p.Arg1183Leu)not provided [RCV001799832]uncertain significance48478984784789847Humanname
151234580CV1320348single nucleotide variantNM_014991.6(WDFY3):c.6557G>A (p.Ser2186Asn)not provided [RCV001799972]uncertain significance48473902784739027Humanname
151234615CV1320370single nucleotide variantNM_014991.6(WDFY3):c.8777A>T (p.Glu2926Val)not provided [RCV001799994]uncertain significance48469609484696094Humanname
151350098CV1325522single nucleotide variantNM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)Microcephaly 18, primary, autosomal dominant [RCV001814808]|not provided [RCV005057646]pathogenic|likely pathogenic48468813384688133Human1name
151663470CV1333974single nucleotide variantNM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr)Microcephaly 18, primary, autosomal dominant [RCV001839148]uncertain significance48477509884775098Human1name
151751195CV1335637single nucleotide variantNM_014991.6(WDFY3):c.3442C>T (p.Arg1148Ter)not provided [RCV001847479]pathogenic48479456484794564Humanname
151873237CV1513731single nucleotide variantNM_014991.6(WDFY3):c.5270C>T (p.Pro1757Leu)not provided [RCV001940084]uncertain significance48475708084757080Humanname
151730247CV1517765single nucleotide variantNM_014991.6(WDFY3):c.8428T>A (p.Phe2810Ile)not provided [RCV002052380]uncertain significance48470435284704352Humanname
152154547CV1667928single nucleotide variantNM_014991.6(WDFY3):c.9820A>G (p.Ile3274Val)not provided [RCV002221821]uncertain significance48468237784682377Humanname
152154694CV1667958single nucleotide variantNM_014991.6(WDFY3):c.4136C>G (p.Ser1379Cys)not provided [RCV002221852]uncertain significance48478300184783001Humanname
152156403CV1668530single nucleotide variantNM_014991.6(WDFY3):c.8764C>T (p.Pro2922Ser)not provided [RCV002222812]uncertain significance48469610784696107Humanname
152978439CV1671617single nucleotide variantNM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser)Microcephaly 18, primary, autosomal dominant [RCV002227722]uncertain significance48468244384682443Human1name
152980040CV1675840single nucleotide variantNM_014991.6(WDFY3):c.9549C>G (p.Asp3183Glu)not provided [RCV002244431]uncertain significance48468412084684120Humanname
152980071CV1678385single nucleotide variantNM_014991.6(WDFY3):c.6086C>T (p.Ser2029Phe)not specified [RCV002246890]benign48474190984741909Humanname
152999726CV1683293single nucleotide variantNM_014991.6(WDFY3):c.4487C>T (p.Thr1496Ile)Inborn genetic diseases [RCV004047390]|See cases [RCV002252477]likely benign48477853484778534Human1name
152999728CV1683295single nucleotide variantNM_014991.6(WDFY3):c.7771A>G (p.Ile2591Val)Inborn genetic diseases [RCV004047391]|See cases [RCV002252479]likely benign48471700084717000Human1name
153301543CV1685784single nucleotide variantNM_014991.6(WDFY3):c.5060C>T (p.Ala1687Val)not provided [RCV002260761]uncertain significance48476593884765938Humanname
153305116CV1687524single nucleotide variantNM_014991.6(WDFY3):c.9304G>A (p.Val3102Met)Inborn genetic diseases [RCV003365722]|Microcephaly 18, primary, autosomal dominant [RCV003138135]|not provided [RCV002263345]likely benign|uncertain significance48469056584690565Human2name
153305117CV1687525single nucleotide variantNM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val)Microcephaly 18, primary, autosomal dominant [RCV002496198]|WDFY3-related disorder [RCV004534015]|not provided [RCV002263346]benign|likely benign48469174184691741Human1name , trait
153301073CV1688917single nucleotide variantNM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe)Microcephaly 18, primary, autosomal dominant [RCV002266645]uncertain significance48469060984690609Human1name
153301186CV1689033single nucleotide variantNM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val)Microcephaly 18, primary, autosomal dominant [RCV002266761]|WDFY3-related disorder [RCV004534020]uncertain significance48471849284718492Human1name , trait
153302202CV1689494single nucleotide variantNM_014991.6(WDFY3):c.8503G>T (p.Ala2835Ser)not provided [RCV002267445]uncertain significance48470244684702446Humanname
153303889CV1690534single nucleotide variantNM_014991.6(WDFY3):c.4805A>G (p.Lys1602Arg)not provided [RCV002269578]uncertain significance48477287984772879Humanname
153345775CV1691418single nucleotide variantNM_014991.6(WDFY3):c.3473T>G (p.Leu1158Arg)Microcephaly 18, primary, autosomal dominant [RCV002272901]uncertain significance48479453384794533Human1name
153347138CV1691953single nucleotide variantNM_014991.6(WDFY3):c.9992C>T (p.Ser3331Phe)not provided [RCV002273438]uncertain significance48467907484679074Humanname
153347280CV1691999single nucleotide variantNM_014991.6(WDFY3):c.7041C>G (p.Ile2347Met)not provided [RCV002273484]uncertain significance48473356284733562Humanname
153347352CV1692023single nucleotide variantNM_014991.6(WDFY3):c.6936T>A (p.Phe2312Leu)not provided [RCV002273508]uncertain significance48473510084735100Humanname
153347409CV1692043single nucleotide variantNM_014991.6(WDFY3):c.4544T>C (p.Leu1515Pro)not provided [RCV002273528]uncertain significance48477511384775113Humanname
153347461CV1692060single nucleotide variantNM_014991.6(WDFY3):c.4572T>G (p.Ile1524Met)not provided [RCV002273545]uncertain significance48477508584775085Humanname
153348019CV1695068single nucleotide variantNM_014991.6(WDFY3):c.4813G>A (p.Val1605Ile)not provided [RCV002278999]uncertain significance48477287184772871Humanname
155265234CV1704693single nucleotide variantNM_014991.6(WDFY3):c.6229G>A (p.Ala2077Thr)not provided [RCV002284909]uncertain significance48474176684741766Humanname
155641872CV1706075single nucleotide variantNM_014991.6(WDFY3):c.9439C>A (p.Arg3147Ser)not provided [RCV002286937]uncertain significance48468819084688190Humanname
155644195CV1706985single nucleotide variantNM_014991.6(WDFY3):c.9611G>T (p.Ser3204Ile)not provided [RCV002290940]uncertain significance48468405884684058Humanname
155641640CV1707078single nucleotide variantNM_014991.6(WDFY3):c.9610A>T (p.Ser3204Cys)Inborn genetic diseases [RCV005301145]|not provided [RCV002288008]uncertain significance48468405984684059Human1name
155642051CV1707225single nucleotide variantNM_014991.6(WDFY3):c.4735A>G (p.Ser1579Gly)not provided [RCV002288155]uncertain significance48477483984774839Humanname
155643677CV1708032single nucleotide variantNM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)Intellectual disability, autosomal dominant 1 [RCV002289493]likely pathogenic48473344784733447Human1name
155645657CV1709011single nucleotide variantNM_014991.6(WDFY3):c.3421A>G (p.Ile1141Val)not provided [RCV002291887]uncertain significance48479458584794585Humanname
155645909CV1709265single nucleotide variantNM_014991.6(WDFY3):c.8999T>A (p.Ile3000Asn)not provided [RCV002292141]uncertain significance48469293584692935Humanname
155641983CV1710008single nucleotide variantNM_014991.6(WDFY3):c.9590T>C (p.Ile3197Thr)not provided [RCV002293108]uncertain significance48468407984684079Humanname
155645091CV1710571single nucleotide variantNM_014991.6(WDFY3):c.9619A>T (p.Thr3207Ser)not provided [RCV002293867]uncertain significance48468405084684050Humanname
155645182CV1710662single nucleotide variantNM_014991.6(WDFY3):c.5543G>A (p.Arg1848His)not provided [RCV002293958]uncertain significance48475528284755282Humanname
155712459CV1760234single nucleotide variantNM_014991.6(WDFY3):c.3155T>C (p.Leu1052Pro)not provided [RCV002300740]uncertain significance48479653384796533Humanname
155731277CV1780966single nucleotide variantNM_014991.6(WDFY3):c.5864A>G (p.Asn1955Ser)not provided [RCV002308754]uncertain significance48475159284751592Humanname
155734894CV1781193single nucleotide variantNM_014991.6(WDFY3):c.5512G>A (p.Glu1838Lys)not provided [RCV002308982]uncertain significance48475531384755313Humanname
155803587CV1858149single nucleotide variantNM_014991.6(WDFY3):c.3761C>G (p.Ala1254Gly)not provided [RCV002462458]uncertain significance48478762284787622Humanname
155795017CV1858701single nucleotide variantNM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)Microcephaly 18, primary, autosomal dominant [RCV002463579]uncertain significance48469056784690567Human1name
155797305CV1859280single nucleotide variantNM_014991.6(WDFY3):c.3160G>T (p.Gly1054Trp)not provided [RCV002464908]uncertain significance48479652884796528Humanname
155797529CV1860389single nucleotide variantNM_014991.6(WDFY3):c.6706G>A (p.Ala2236Thr)not provided [RCV002467031]uncertain significance48473723584737235Humanname
155797747CV1860464single nucleotide variantNM_014991.6(WDFY3):c.9691G>A (p.Val3231Ile)not provided [RCV002467106]uncertain significance48468397884683978Humanname
155797848CV1860522single nucleotide variantNM_014991.6(WDFY3):c.8017C>T (p.Arg2673Ter)not provided [RCV002467164]likely pathogenic48471318484713184Humanname
155798115CV1860594single nucleotide variantNM_014991.6(WDFY3):c.6151C>T (p.Arg2051Cys)not provided [RCV002467236]uncertain significance48474184484741844Humanname
155801053CV1861182single nucleotide variantNM_014991.6(WDFY3):c.8396A>G (p.Tyr2799Cys)Microcephaly 18, primary, autosomal dominant [RCV002468898]uncertain significance48470438484704384Human1name
155795433CV1861296single nucleotide variantNM_014991.6(WDFY3):c.5605G>T (p.Val1869Leu)not provided [RCV002469578]uncertain significance48475383184753831Humanname
155798875CV1862211single nucleotide variantNM_014991.6(WDFY3):c.3579G>A (p.Trp1193Ter)Neurodevelopmental disorder [RCV002471615]pathogenic48478981684789816Human1name
155799712CV1862599single nucleotide variantNM_014991.6(WDFY3):c.7189G>T (p.Val2397Leu)Microcephaly 18, primary, autosomal dominant [RCV002472006]uncertain significance48473341484733414Human1name
155800166CV1862829single nucleotide variantNM_014991.6(WDFY3):c.7324A>C (p.Met2442Leu)Inborn genetic diseases [RCV004965881]|Microcephaly 18, primary, autosomal dominant [RCV002472236]uncertain significance48472454384724543Human2name
155800401CV1863550single nucleotide variantNM_014991.6(WDFY3):c.7639G>T (p.Gly2547Cys)not provided [RCV002473973]uncertain significance48471853784718537Humanname
155800617CV1863740single nucleotide variantNM_014991.6(WDFY3):c.3583C>A (p.His1195Asn)not provided [RCV002474163]uncertain significance48478981284789812Humanname
156165848CV1866880single nucleotide variantNM_014991.6(WDFY3):c.6473A>G (p.Asp2158Gly)not provided [RCV002508432]uncertain significance48473911184739111Humanname
156166842CV1866918single nucleotide variantNM_014991.6(WDFY3):c.9560G>A (p.Cys3187Tyr)not provided [RCV002508470]uncertain significance48468410984684109Humanname
156047508CV1867552single nucleotide variantNM_014991.6(WDFY3):c.8209G>A (p.Asp2737Asn)not provided [RCV002510024]uncertain significance48470891784708917Humanname
156056648CV1935175single nucleotide variantNM_014991.6(WDFY3):c.6722A>C (p.Glu2241Ala)not specified [RCV002510463]uncertain significance48473721984737219Humanname
156439130CV1944066single nucleotide variantNM_014991.6(WDFY3):c.6565A>G (p.Ile2189Val)not provided [RCV003109086]uncertain significance48473901984739019Humanname
156271954CV2168138single nucleotide variantNM_014991.6(WDFY3):c.3877A>C (p.Ser1293Arg)not provided [RCV003027022]pathogenic48478750684787506Humanname
156451144CV2192762single nucleotide variantNM_014991.6(WDFY3):c.8062T>G (p.Leu2688Val)not provided [RCV003123324]uncertain significance48470932884709328Humanname
155962108CV2200878single nucleotide variantNM_014991.6(WDFY3):c.6328G>A (p.Val2110Ile)Inborn genetic diseases [RCV002686715]likely benign48474032384740323Human1name
156322363CV2205021single nucleotide variantNM_014991.6(WDFY3):c.6469G>A (p.Val2157Met)Inborn genetic diseases [RCV002672287]uncertain significance48473911584739115Human1name
156236709CV2206693single nucleotide variantNM_014991.6(WDFY3):c.3736T>G (p.Tyr1246Asp)Inborn genetic diseases [RCV002701580]likely benign48478764784787647Human1name
156401034CV2213750single nucleotide variantNM_014991.6(WDFY3):c.5723G>A (p.Arg1908His)Inborn genetic diseases [RCV002656783]uncertain significance48475371384753713Human1name
155977526CV2214874single nucleotide variantNM_014991.6(WDFY3):c.3802A>G (p.Thr1268Ala)Inborn genetic diseases [RCV002688058]uncertain significance48478758184787581Human1name
156043316CV2215842single nucleotide variantNM_014991.6(WDFY3):c.8618A>C (p.Lys2873Thr)Inborn genetic diseases [RCV002692411]uncertain significance48469680284696802Human1name
156172376CV2247513single nucleotide variantNM_014991.6(WDFY3):c.9361C>G (p.Gln3121Glu)Inborn genetic diseases [RCV002788132]uncertain significance48469050884690508Human1name
156073857CV2263909single nucleotide variantNM_014991.6(WDFY3):c.7198A>G (p.Thr2400Ala)Inborn genetic diseases [RCV002823603]uncertain significance48473340584733405Human1name
156155129CV2266120single nucleotide variantNM_014991.6(WDFY3):c.5924G>C (p.Cys1975Ser)Inborn genetic diseases [RCV002827023]likely benign48475153284751532Human1name
156340985CV2268204single nucleotide variantNM_014991.6(WDFY3):c.7809G>C (p.Lys2603Asn)Inborn genetic diseases [RCV002836300]uncertain significance48471696284716962Human1name
155984425CV2270592single nucleotide variantNM_014991.6(WDFY3):c.3745A>G (p.Ile1249Val)Inborn genetic diseases [RCV002818865]uncertain significance48478763884787638Human1name
156065337CV2272499single nucleotide variantNM_014991.6(WDFY3):c.5029G>A (p.Glu1677Lys)Inborn genetic diseases [RCV002823141]uncertain significance48476596984765969Human1name
155990053CV2276415single nucleotide variantNM_014991.6(WDFY3):c.9130C>G (p.Pro3044Ala)Inborn genetic diseases [RCV002864425]uncertain significance48469170584691705Human1name
156132949CV2284543single nucleotide variantNM_014991.6(WDFY3):c.9998G>A (p.Arg3333His)Inborn genetic diseases [RCV002849814]likely benign48467906884679068Human1name
156004442CV2290165single nucleotide variantNM_014991.6(WDFY3):c.3721G>C (p.Val1241Leu)Inborn genetic diseases [RCV002883546]uncertain significance48478766284787662Human1name
156183070CV2294778single nucleotide variantNM_014991.6(WDFY3):c.7741A>G (p.Thr2581Ala)Inborn genetic diseases [RCV002892090]uncertain significance48471843584718435Human1name
156290941CV2306012single nucleotide variantNM_014991.6(WDFY3):c.4222G>A (p.Val1408Ile)Inborn genetic diseases [RCV002897175]likely benign48478025184780251Human1name
155963258CV2308252single nucleotide variantNM_014991.6(WDFY3):c.5861C>G (p.Thr1954Ser)Inborn genetic diseases [RCV002906238]uncertain significance48475159584751595Human1name
156348394CV2312778single nucleotide variantNM_014991.6(WDFY3):c.5038C>T (p.His1680Tyr)Inborn genetic diseases [RCV002939486]uncertain significance48476596084765960Human1name
156350342CV2316190single nucleotide variantNM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)Inborn genetic diseases [RCV002939775]|Microcephaly 18, primary, autosomal dominant [RCV003492813]uncertain significance48469054384690543Human2name
156282646CV2334605single nucleotide variantNM_014991.6(WDFY3):c.6737A>G (p.Lys2246Arg)Inborn genetic diseases [RCV002961050]uncertain significance48473720484737204Human1name
155908289CV2354606single nucleotide variantNM_014991.6(WDFY3):c.4661G>A (p.Arg1554Gln)Inborn genetic diseases [RCV002990843]uncertain significance48477491384774913Human1name
155924509CV2358165single nucleotide variantNM_014991.6(WDFY3):c.5519T>C (p.Val1840Ala)Inborn genetic diseases [RCV002992424]|WDFY3-related disorder [RCV004540604]likely benign48475530684755306Human2name , trait
156097200CV2375566single nucleotide variantNM_014991.6(WDFY3):c.7514T>C (p.Leu2505Pro)Inborn genetic diseases [RCV002738865]uncertain significance48472150084721500Human1name
156133781CV2383019single nucleotide variantNM_014991.6(WDFY3):c.8837A>G (p.Asn2946Ser)Inborn genetic diseases [RCV002708636]uncertain significance48469603484696034Human1name
156249464CV2394086single nucleotide variantNM_014991.6(WDFY3):c.7545A>G (p.Ile2515Met)Inborn genetic diseases [RCV002768772]uncertain significance48472146984721469Human1name
156006254CV2394140single nucleotide variantNM_014991.6(WDFY3):c.3198T>A (p.His1066Gln)Inborn genetic diseases [RCV002734590]uncertain significance48479494984794949Human1name
156084008CV2395103single nucleotide variantNM_014991.6(WDFY3):c.3799C>T (p.Pro1267Ser)Inborn genetic diseases [RCV002783901]uncertain significance48478758484787584Human1name
156440003CV2401687single nucleotide variantNM_014991.6(WDFY3):c.6995G>A (p.Arg2332His)not provided [RCV003109975]uncertain significance48473360884733608Humanname
156448895CV2402315single nucleotide variantNM_014991.6(WDFY3):c.6001C>G (p.Gln2001Glu)not provided [RCV003120474]uncertain significance48474377284743772Humanname
156435191CV2403440single nucleotide variantNM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys)Autism spectrum disorder [RCV003127376]likely benign48469295084692950Human2name
243051670CV2403901single nucleotide variantNM_014991.6(WDFY3):c.3983C>G (p.Ala1328Gly)not provided [RCV003128977]uncertain significance48478605884786058Humanname
243051356CV2403922single nucleotide variantNM_014991.6(WDFY3):c.8212T>G (p.Ser2738Ala)not provided [RCV003128898]uncertain significance48470891484708914Humanname
243051782CV2404098single nucleotide variantNM_014991.6(WDFY3):c.7768A>G (p.Ile2590Val)not provided [RCV003129124]uncertain significance48471700384717003Humanname
243052211CV2404334single nucleotide variantNM_014991.6(WDFY3):c.4893A>G (p.Ile1631Met)not provided [RCV003129360]uncertain significance48476632984766329Humanname
243053239CV2404526deletionNM_014991.6(WDFY3):c.10540del (p.Gln3514fs)not provided [RCV003129553]uncertain significance48467290984672909Humanname
243062039CV2414244single nucleotide variantNM_014991.6(WDFY3):c.7095C>A (p.His2365Gln)Microcephaly 18, primary, autosomal dominant [RCV003139313]uncertain significance48473350884733508Human1name
243062041CV2414246single nucleotide variantNM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)Inborn genetic diseases [RCV004676181]|Microcephaly 18, primary, autosomal dominant [RCV003139315]likely benign|uncertain significance48479497584794975Human2name
243062042CV2414247single nucleotide variantNM_014991.6(WDFY3):c.8033T>G (p.Val2678Gly)Microcephaly 18, primary, autosomal dominant [RCV003139316]uncertain significance48471316884713168Human1name
243062044CV2414249single nucleotide variantNM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn)Microcephaly 18, primary, autosomal dominant [RCV003139318]uncertain significance48477483584774835Human1name
243051240CV2415732single nucleotide variantNM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)Microcephaly 18, primary, autosomal dominant [RCV003148339]likely pathogenic48475163184751631Human1name
243050159CV2417343single nucleotide variantNM_014991.6(WDFY3):c.6955C>G (p.Arg2319Gly)not provided [RCV003152215]uncertain significance48473508184735081Humanname
243050139CV2419569single nucleotide variantNM_014991.6(WDFY3):c.5642A>G (p.Asn1881Ser)not provided [RCV003156501]uncertain significance48475379484753794Humanname
329350278CV2421625single nucleotide variantNM_014991.6(WDFY3):c.6287A>G (p.Asn2096Ser)not provided [RCV003159327]uncertain significance48474036484740364Humanname
329350680CV2421663single nucleotide variantNM_014991.6(WDFY3):c.5731T>G (p.Ser1911Ala)not provided [RCV003159366]uncertain significance48475370584753705Humanname
329350562CV2421724single nucleotide variantNM_014991.6(WDFY3):c.4486A>C (p.Thr1496Pro)not provided [RCV003159427]uncertain significance48477853584778535Humanname
329400593CV2438532single nucleotide variantNM_014991.6(WDFY3):c.7325T>C (p.Met2442Thr)Inborn genetic diseases [RCV003197590]likely benign48472454284724542Human1name
329359092CV2450838single nucleotide variantNM_014991.6(WDFY3):c.6925C>A (p.Gln2309Lys)Inborn genetic diseases [RCV003204308]uncertain significance48473511184735111Human1name
329378192CV2457206single nucleotide variantNM_014991.6(WDFY3):c.6358C>T (p.Leu2120Phe)Inborn genetic diseases [RCV003186661]uncertain significance48474029384740293Human1name
329398201CV2464861single nucleotide variantNM_014991.6(WDFY3):c.6129C>G (p.Asn2043Lys)Inborn genetic diseases [RCV003220364]|WDFY3-related disorder [RCV004538921]uncertain significance48474186684741866Human2name , trait
401866614CV2472802single nucleotide variantNM_014991.6(WDFY3):c.7917C>A (p.Tyr2639Ter)Neurodevelopmental delay [RCV003331499]pathogenic48471534284715342Human1name
329384573CV2472874single nucleotide variantNM_014991.6(WDFY3):c.9079T>C (p.Cys3027Arg)not provided [RCV003214176]uncertain significance48469175684691756Humanname
329394848CV2472956single nucleotide variantNM_014991.6(WDFY3):c.3746T>C (p.Ile1249Thr)not provided [RCV003218939]uncertain significance48478763784787637Humanname
329395172CV2473046single nucleotide variantNM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter)Inborn genetic diseases [RCV003274355]|not provided [RCV003219030]pathogenic48479462484794624Human1name
329352871CV2476932single nucleotide variantNM_014991.6(WDFY3):c.3145G>C (p.Asp1049His)not provided [RCV003223164]likely benign48479654384796543Humanname
329350503CV2477367single nucleotide variantNM_014991.6(WDFY3):c.6389T>C (p.Ile2130Thr)not provided [RCV003221692]uncertain significance48474026284740262Humanname
329350515CV2477370single nucleotide variantNM_014991.6(WDFY3):c.4397C>G (p.Ser1466Cys)not provided [RCV003221695]uncertain significance48477862484778624Humanname
329351009CV2477839single nucleotide variantNM_014991.6(WDFY3):c.6761A>T (p.His2254Leu)not provided [RCV003223952]uncertain significance48473632484736324Humanname
329351083CV2477912single nucleotide variantNM_014991.6(WDFY3):c.3782T>G (p.Leu1261Trp)not provided [RCV003224025]uncertain significance48478760184787601Humanname
329848578CV2523322single nucleotide variantNM_014991.6(WDFY3):c.5500A>G (p.Asn1834Asp)not provided [RCV003225336]uncertain significance48475532584755325Humanname
329848809CV2523557single nucleotide variantNM_014991.6(WDFY3):c.8656G>C (p.Asp2886His)not provided [RCV003225571]uncertain significance48469676484696764Humanname
329848042CV2667661single nucleotide variantNM_014991.6(WDFY3):c.4696A>G (p.Ile1566Val)not provided [RCV003229228]uncertain significance48477487884774878Humanname
329848088CV2667707single nucleotide variantNM_014991.6(WDFY3):c.6707C>T (p.Ala2236Val)not provided [RCV003229274]uncertain significance48473723484737234Humanname
329848173CV2667792single nucleotide variantNM_014991.6(WDFY3):c.6803C>T (p.Thr2268Ile)not provided [RCV003229359]uncertain significance48473628284736282Humanname
329953412CV2668389single nucleotide variantNM_014991.6(WDFY3):c.3148A>G (p.Thr1050Ala)not provided [RCV003230042]uncertain significance48479654084796540Humanname
329952268CV2668962single nucleotide variantNM_014991.6(WDFY3):c.4744G>T (p.Asp1582Tyr)not specified [RCV003231047]uncertain significance48477483084774830Humanname
329952971CV2669680single nucleotide variantNM_014991.6(WDFY3):c.5069T>C (p.Ile1690Thr)not provided [RCV003234304]uncertain significance48476592984765929Humanname
329953150CV2669862single nucleotide variantNM_014991.6(WDFY3):c.7757T>G (p.Met2586Arg)not provided [RCV003234486]|not specified [RCV004701027]uncertain significance48471701484717014Humanname
329954760CV2670689single nucleotide variantNM_014991.6(WDFY3):c.8707G>A (p.Val2903Met)not provided [RCV003235957]uncertain significance48469616484696164Humanname
329954825CV2670757single nucleotide variantNM_014991.6(WDFY3):c.4261G>C (p.Ala1421Pro)not provided [RCV003236025]uncertain significance48478021284780212Humanname
329954984CV2670919single nucleotide variantNM_014991.6(WDFY3):c.6815A>C (p.Lys2272Thr)not provided [RCV003236187]uncertain significance48473627084736270Humanname
401720776CV2673484single nucleotide variantNM_014991.6(WDFY3):c.8233A>G (p.Asn2745Asp)Inborn genetic diseases [RCV003244188]uncertain significance48470549684705496Human1name
401754861CV2682319single nucleotide variantNM_014991.6(WDFY3):c.3791G>A (p.Arg1264His)Inborn genetic diseases [RCV003255120]uncertain significance48478759284787592Human1name
401739386CV2684070single nucleotide variantNM_014991.6(WDFY3):c.9840C>G (p.Asp3280Glu)Inborn genetic diseases [RCV003240375]uncertain significance48467922684679226Human1name
401731349CV2693747single nucleotide variantNM_014991.6(WDFY3):c.3329A>G (p.His1110Arg)Inborn genetic diseases [RCV003289853]uncertain significance48479467784794677Human1name
401761822CV2713910single nucleotide variantNM_014991.6(WDFY3):c.6548G>A (p.Gly2183Asp)Inborn genetic diseases [RCV003257691]uncertain significance48473903684739036Human1name
401783064CV2716112single nucleotide variantNM_014991.6(WDFY3):c.4795G>A (p.Val1599Ile)Inborn genetic diseases [RCV003309295]uncertain significance48477288984772889Human1name
401783835CV2720481single nucleotide variantNM_014991.6(WDFY3):c.6367C>T (p.Leu2123Phe)Inborn genetic diseases [RCV003309982]uncertain significance48474028484740284Human1name
401754651CV2722999single nucleotide variantNM_014991.6(WDFY3):c.8389G>A (p.Ala2797Thr)Inborn genetic diseases [RCV003278093]uncertain significance48470439184704391Human1name
401764353CV2725572single nucleotide variantNM_014991.6(WDFY3):c.4958G>A (p.Ser1653Asn)Inborn genetic diseases [RCV003258532]likely benign48476626484766264Human1name
401781175CV2726445single nucleotide variantNM_014991.6(WDFY3):c.8617A>G (p.Lys2873Glu)Inborn genetic diseases [RCV003308494]uncertain significance48469680384696803Human1name
401731814CV2736628single nucleotide variantNM_014991.6(WDFY3):c.3062G>T (p.Arg1021Met)not provided [RCV003313390]uncertain significance48479662684796626Humanname
401733893CV2736911single nucleotide variantNM_014991.6(WDFY3):c.9238G>A (p.Gly3080Ser)not provided [RCV003313674]uncertain significance48469063184690631Humanname
401722062CV2737615single nucleotide variantNM_014991.6(WDFY3):c.9100G>A (p.Ala3034Thr)not provided [RCV003314787]uncertain significance48469173584691735Humanname
401798085CV2739205single nucleotide variantNM_014991.6(WDFY3):c.6407A>T (p.His2136Leu)not provided [RCV003318853]uncertain significance48474024484740244Humanname
401798738CV2739483single nucleotide variantNM_014991.6(WDFY3):c.7145A>G (p.Lys2382Arg)not provided [RCV003319131]uncertain significance48473345884733458Humanname
401796345CV2740527single nucleotide variantNM_014991.6(WDFY3):c.3932C>T (p.Pro1311Leu)not provided [RCV003321197]uncertain significance48478610984786109Humanname
401796347CV2740530single nucleotide variantNM_014991.6(WDFY3):c.5353G>C (p.Val1785Leu)not provided [RCV003321200]uncertain significance48475699784756997Humanname
401799162CV2741739single nucleotide variantNM_014991.6(WDFY3):c.3541C>G (p.Arg1181Gly)not provided [RCV003323147]uncertain significance48478985484789854Humanname
401798889CV2742658single nucleotide variantNM_014991.6(WDFY3):c.3356C>T (p.Pro1119Leu)not provided [RCV003325103]uncertain significance48479465084794650Humanname
401828735CV2743070single nucleotide variantNM_014991.6(WDFY3):c.4963A>G (p.Asn1655Asp)not provided [RCV003325778]uncertain significance48476625984766259Humanname
401829946CV2747589single nucleotide variantNM_014991.6(WDFY3):c.5039A>C (p.His1680Pro)not provided [RCV003329055]uncertain significance48476595984765959Humanname
401830355CV2748064single nucleotide variantNM_014991.6(WDFY3):c.4006G>T (p.Val1336Leu)not provided [RCV003329671]uncertain significance48478603584786035Humanname
401830785CV2748322single nucleotide variantNM_014991.6(WDFY3):c.9974A>C (p.Asp3325Ala)not provided [RCV003329931]uncertain significance48467909284679092Humanname
401873522CV2749769single nucleotide variantNM_014991.6(WDFY3):c.9371T>G (p.Leu3124Arg)not provided [RCV003332898]uncertain significance48468825884688258Humanname
401866723CV2758988single nucleotide variantNM_014991.6(WDFY3):c.9955A>G (p.Thr3319Ala)Inborn genetic diseases [RCV003345039]likely benign48467911184679111Human1name
401889363CV2759791single nucleotide variantNM_014991.6(WDFY3):c.5870C>T (p.Pro1957Leu)Inborn genetic diseases [RCV003353856]uncertain significance48475158684751586Human1name
401883961CV2761193single nucleotide variantNM_014991.6(WDFY3):c.9439C>G (p.Arg3147Gly)Inborn genetic diseases [RCV003351111]uncertain significance48468819084688190Human1name
401875757CV2766994single nucleotide variantNM_014991.6(WDFY3):c.6542C>A (p.Pro2181Gln)Inborn genetic diseases [RCV003347815]uncertain significance48473904284739042Human1name
401878875CV2770391single nucleotide variantNM_014991.6(WDFY3):c.5754T>A (p.Asp1918Glu)Inborn genetic diseases [RCV003384484]uncertain significance48475170284751702Human1name
401866217CV2786276single nucleotide variantNM_014991.6(WDFY3):c.6844C>G (p.Leu2282Val)Inborn genetic diseases [RCV003379585]uncertain significance48473624184736241Human1name
401869826CV2792193single nucleotide variantNM_014991.6(WDFY3):c.6117G>T (p.Gln2039His)Inborn genetic diseases [RCV003381043]|not provided [RCV004765810]uncertain significance48474187884741878Human1name
401922928CV2796626single nucleotide variantNM_014991.6(WDFY3):c.3425T>A (p.Val1142Asp)WDFY3-related disorder [RCV004527940]uncertain significance48479458184794581Humanname , trait
401931381CV2798138single nucleotide variantNM_014991.6(WDFY3):c.6707C>G (p.Ala2236Gly)WDFY3-related disorder [RCV004527840]uncertain significance48473723484737234Humanname , trait
401921853CV2800020single nucleotide variantNM_014991.6(WDFY3):c.6485T>C (p.Leu2162Pro)WDFY3-related disorder [RCV004536762]uncertain significance48473909984739099Humanname , trait
401924451CV2800064single nucleotide variantNM_014991.6(WDFY3):c.8492C>T (p.Ala2831Val)WDFY3-related disorder [RCV004536773]uncertain significance48470245784702457Humanname , trait
401916557CV2802353single nucleotide variantNM_014991.6(WDFY3):c.9521C>T (p.Ala3174Val)WDFY3-related disorder [RCV004536659]uncertain significance48468810884688108Humanname , trait
401923395CV2822631single nucleotide variantNM_014991.6(WDFY3):c.7064G>A (p.Arg2355Gln)not provided [RCV003435061]uncertain significance48473353984733539Humanname
401928263CV2822635single nucleotide variantNM_014991.6(WDFY3):c.5545A>G (p.Ser1849Gly)WDFY3-related disorder [RCV004536809]|not provided [RCV003439378]likely benign48475528084755280Human1name , trait
401923398CV2822636single nucleotide variantNM_014991.6(WDFY3):c.5251T>G (p.Cys1751Gly)WDFY3-related disorder [RCV004536810]|not provided [RCV003435063]likely benign48475709984757099Human1name , trait
401923403CV2822639single nucleotide variantNM_014991.6(WDFY3):c.3007C>G (p.Arg1003Gly)not provided [RCV003435066]uncertain significance48479668184796681Humanname
401916917CV2829568single nucleotide variantNM_014991.6(WDFY3):c.4009G>C (p.Ala1337Pro)not provided [RCV003443612]uncertain significance48478603284786032Humanname
401917007CV2829612single nucleotide variantNM_014991.6(WDFY3):c.3743A>T (p.Tyr1248Phe)not provided [RCV003443656]uncertain significance48478764084787640Humanname
401917199CV2829717single nucleotide variantNM_014991.6(WDFY3):c.7763A>C (p.Glu2588Ala)not provided [RCV003443761]uncertain significance48471700884717008Humanname
401912910CV2830078single nucleotide variantNM_014991.6(WDFY3):c.4052T>C (p.Ile1351Thr)not provided [RCV003441292]uncertain significance48478598984785989Humanname
401913071CV2830181single nucleotide variantNM_014991.6(WDFY3):c.7244C>T (p.Pro2415Leu)not provided [RCV003441396]uncertain significance48472688984726889Humanname
401914507CV2830725single nucleotide variantNM_014991.6(WDFY3):c.9126C>G (p.Ile3042Met)not provided [RCV003442463]uncertain significance48469170984691709Humanname
401914901CV2830882single nucleotide variantNM_014991.6(WDFY3):c.7690G>T (p.Val2564Leu)not provided [RCV003442621]uncertain significance48471848684718486Humanname
401944154CV2840513single nucleotide variantNM_014991.6(WDFY3):c.3457T>G (p.Ser1153Ala)not provided [RCV003457122]likely benign|uncertain significance48479454984794549Humanname
404999471CV2851481single nucleotide variantNM_014991.6(WDFY3):c.6208G>T (p.Asp2070Tyr)Microcephaly 18, primary, autosomal dominant [RCV003493209]uncertain significance48474178784741787Human1name
405216141CV2911331single nucleotide variantNM_014991.6(WDFY3):c.9968G>A (p.Cys3323Tyr)not provided [RCV003567809]uncertain significance48467909884679098Humanname
405283870CV3200399single nucleotide variantNM_014991.6(WDFY3):c.7166T>C (p.Met2389Thr)WDFY3-related disorder [RCV004542512]likely benign48473343784733437Humanname , trait
405274789CV3209599single nucleotide variantNM_014991.6(WDFY3):c.3631G>A (p.Ala1211Thr)Inborn genetic diseases [RCV004686806]|WDFY3-related disorder [RCV004543980]likely benign48478976484789764Human2name , trait
405718743CV3227781duplicationNM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter)Microcephaly 18, primary, autosomal dominant [RCV003992116]likely pathogenic48472456284724563Human1name
405654961CV3228416single nucleotide variantNM_014991.6(WDFY3):c.6797C>T (p.Ala2266Val)not specified [RCV003995151]uncertain significance48473628884736288Humanname
405801994CV3349013single nucleotide variantNM_014991.6(WDFY3):c.3008G>A (p.Arg1003Gln)Inborn genetic diseases [RCV004478088]uncertain significance48479668084796680Human1name
405801936CV3349014single nucleotide variantNM_014991.6(WDFY3):c.3187T>G (p.Leu1063Val)Inborn genetic diseases [RCV004478089]likely benign48479496084794960Human1name
405802095CV3349016single nucleotide variantNM_014991.6(WDFY3):c.4846A>C (p.Thr1616Pro)Inborn genetic diseases [RCV004478091]uncertain significance48477283884772838Human1name
405801938CV3349017single nucleotide variantNM_014991.6(WDFY3):c.5200G>C (p.Gly1734Arg)Inborn genetic diseases [RCV004478092]uncertain significance48475715084757150Human1name
405801940CV3349018single nucleotide variantNM_014991.6(WDFY3):c.5397C>G (p.Ile1799Met)Inborn genetic diseases [RCV004478093]uncertain significance48475695384756953Human1name
405801942CV3349019single nucleotide variantNM_014991.6(WDFY3):c.6217A>G (p.Ile2073Val)Inborn genetic diseases [RCV004478094]uncertain significance48474177884741778Human1name
405801943CV3349020single nucleotide variantNM_014991.6(WDFY3):c.6277C>A (p.His2093Asn)Inborn genetic diseases [RCV004478095]uncertain significance48474037484740374Human1name
405801945CV3349021single nucleotide variantNM_014991.6(WDFY3):c.6664A>G (p.Thr2222Ala)Inborn genetic diseases [RCV004478096]uncertain significance48473727784737277Human1name
405801947CV3349022single nucleotide variantNM_014991.6(WDFY3):c.6790G>C (p.Ala2264Pro)Inborn genetic diseases [RCV004478097]uncertain significance48473629584736295Human1name
405801951CV3349024single nucleotide variantNM_014991.6(WDFY3):c.8555A>G (p.Tyr2852Cys)Inborn genetic diseases [RCV004478099]uncertain significance48470239484702394Human1name
405801953CV3349025single nucleotide variantNM_014991.6(WDFY3):c.9956C>T (p.Thr3319Ile)Inborn genetic diseases [RCV004478100]uncertain significance48467911084679110Human1name
405853552CV3393221single nucleotide variantNM_014991.6(WDFY3):c.8894C>A (p.Pro2965His)Microcephaly 18, primary, autosomal dominant [RCV004545951]uncertain significance48469597784695977Human1name
405854765CV3394880single nucleotide variantNM_014991.6(WDFY3):c.4229G>T (p.Gly1410Val)not provided [RCV004555021]uncertain significance48478024484780244Humanname
405872020CV3398190single nucleotide variantNM_014991.6(WDFY3):c.7234A>G (p.Ser2412Gly)not provided [RCV004575191]uncertain significance48472689984726899Humanname
407426407CV3411318single nucleotide variantNM_014991.6(WDFY3):c.6440G>C (p.Cys2147Ser)not provided [RCV004590495]uncertain significance48474021184740211Humanname
407427809CV3412107single nucleotide variantNM_014991.6(WDFY3):c.6535A>G (p.Ile2179Val)not provided [RCV004592278]uncertain significance48473904984739049Humanname
407427872CV3412170single nucleotide variantNM_014991.6(WDFY3):c.3480A>C (p.Gln1160His)not provided [RCV004592341]uncertain significance48479452684794526Humanname
407428172CV3412368single nucleotide variantNM_014991.6(WDFY3):c.9353C>T (p.Thr3118Ile)not provided [RCV004593536]uncertain significance48469051684690516Humanname
407429324CV3413711single nucleotide variantNM_014991.6(WDFY3):c.3547C>T (p.Arg1183Ter)Neurodevelopmental disorder [RCV004595120]|not provided [RCV004784208]pathogenic48478984884789848Human1name
407429478CV3413865single nucleotide variantNM_014991.6(WDFY3):c.3403C>T (p.His1135Tyr)Neurodevelopmental disorder [RCV004595274]likely pathogenic48479460384794603Human1name
407490796CV3416861single nucleotide variantNM_014991.6(WDFY3):c.9361C>T (p.Gln3121Ter)Syndromic intellectual disability [RCV004666689]likely pathogenic48469050884690508Human1name
407451155CV3489601single nucleotide variantNM_014991.6(WDFY3):c.7324A>G (p.Met2442Val)Inborn genetic diseases [RCV004683566]uncertain significance48472454384724543Human1name
407451157CV3489603single nucleotide variantNM_014991.6(WDFY3):c.4112A>G (p.Asn1371Ser)Inborn genetic diseases [RCV004683567]uncertain significance48478302584783025Human1name
407451160CV3489604single nucleotide variantNM_014991.6(WDFY3):c.8486G>C (p.Arg2829Pro)Inborn genetic diseases [RCV004683568]uncertain significance48470246384702463Human1name
407451169CV3489608single nucleotide variantNM_014991.6(WDFY3):c.4048G>A (p.Ala1350Thr)Inborn genetic diseases [RCV004683572]uncertain significance48478599384785993Human1name
407451178CV3489611single nucleotide variantNM_014991.6(WDFY3):c.6245G>T (p.Arg2082Ile)Inborn genetic diseases [RCV004683575]uncertain significance48474040684740406Human1name
407451181CV3489612single nucleotide variantNM_014991.6(WDFY3):c.5074G>A (p.Val1692Ile)Inborn genetic diseases [RCV004683576]uncertain significance48476592484765924Human1name
407451190CV3489617single nucleotide variantNM_014991.6(WDFY3):c.7370T>A (p.Val2457Glu)Inborn genetic diseases [RCV004683580]|not provided [RCV004780748]uncertain significance48472449784724497Human1name
407572677CV3497159single nucleotide variantNM_014991.6(WDFY3):c.3827C>G (p.Pro1276Arg)not provided [RCV004698979]uncertain significance48478755684787556Humanname
408365400CV3499873single nucleotide variantNM_014991.6(WDFY3):c.4141C>T (p.Arg1381Trp)not provided [RCV004721915]pathogenic48478299684782996Humanname
408366131CV3500098single nucleotide variantNM_014991.6(WDFY3):c.4019G>A (p.Arg1340Gln)not provided [RCV004722141]uncertain significance48478602284786022Humanname
408377347CV3501550single nucleotide variantNM_014991.6(WDFY3):c.5833T>G (p.Cys1945Gly)not provided [RCV004727608]uncertain significance48475162384751623Humanname
408381073CV3501805single nucleotide variantNM_014991.6(WDFY3):c.5501A>C (p.Asn1834Thr)not provided [RCV004729333]uncertain significance48475532484755324Humanname
408374243CV3502398single nucleotide variantNM_014991.6(WDFY3):c.9691G>C (p.Val3231Leu)not provided [RCV004725985]uncertain significance48468397884683978Humanname
408370341CV3503034single nucleotide variantNM_014991.6(WDFY3):c.3041G>T (p.Gly1014Val)not provided [RCV004724155]uncertain significance48479664784796647Humanname
408384302CV3505015single nucleotide variantNM_014991.6(WDFY3):c.6535A>T (p.Ile2179Phe)WDFY3-related disorder [RCV004731695]uncertain significance48473904984739049Humanname , trait
408385030CV3505491single nucleotide variantNM_014991.6(WDFY3):c.4520T>A (p.Val1507Asp)WDFY3-related disorder [RCV004732328]uncertain significance48477513784775137Humanname , trait
408367539CV3507527single nucleotide variantNM_014991.6(WDFY3):c.8065G>C (p.Val2689Leu)WDFY3-related disorder [RCV004758967]uncertain significance48470932584709325Humanname , trait
408367560CV3509437single nucleotide variantNM_014991.6(WDFY3):c.4894C>G (p.Leu1632Val)WDFY3-related disorder [RCV004759004]uncertain significance48476632884766328Humanname , trait
408367784CV3516144single nucleotide variantNM_014991.6(WDFY3):c.6404A>G (p.Asn2135Ser)WDFY3-related disorder [RCV004759237]uncertain significance48474024784740247Humanname , trait
408386800CV3518549single nucleotide variantNM_014991.6(WDFY3):c.9431G>C (p.Ser3144Thr)not provided [RCV004760867]uncertain significance48468819884688198Humanname
408386883CV3518591single nucleotide variantNM_014991.6(WDFY3):c.8930G>T (p.Arg2977Leu)not provided [RCV004760909]uncertain significance48469300484693004Humanname
408387144CV3518717single nucleotide variantNM_014991.6(WDFY3):c.4822A>G (p.Ile1608Val)not provided [RCV004761036]uncertain significance48477286284772862Humanname
408390251CV3519276single nucleotide variantNM_014991.6(WDFY3):c.3622A>G (p.Ser1208Gly)not provided [RCV004762585]uncertain significance48478977384789773Humanname
408385708CV3520311single nucleotide variantNM_014991.6(WDFY3):c.9080G>C (p.Cys3027Ser)not provided [RCV004760132]uncertain significance48469175584691755Humanname
408387741CV3520461single nucleotide variantNM_014991.6(WDFY3):c.7438A>G (p.Lys2480Glu)not provided [RCV004761293]uncertain significance48472442984724429Humanname
408388389CV3520776single nucleotide variantNM_014991.6(WDFY3):c.3406T>C (p.Tyr1136His)not provided [RCV004761609]uncertain significance48479460084794600Humanname
408388405CV3520783single nucleotide variantNM_014991.6(WDFY3):c.5170A>G (p.Lys1724Glu)not provided [RCV004761616]uncertain significance48476582884765828Humanname
408390927CV3521109single nucleotide variantNM_014991.6(WDFY3):c.7220C>G (p.Ala2407Gly)not provided [RCV004762931]uncertain significance48473338384733383Humanname
408391623CV3521391single nucleotide variantNM_014991.6(WDFY3):c.7651A>G (p.Ser2551Gly)not provided [RCV004763213]uncertain significance48471852584718525Humanname
408391627CV3521393single nucleotide variantNM_014991.6(WDFY3):c.6037G>T (p.Val2013Leu)not provided [RCV004763215]uncertain significance48474373684743736Humanname
408391676CV3521440single nucleotide variantNM_014991.6(WDFY3):c.6893A>G (p.Asn2298Ser)not provided [RCV004763262]uncertain significance48473619284736192Humanname
408386479CV3522542single nucleotide variantNM_014991.6(WDFY3):c.9076G>T (p.Val3026Leu)not provided [RCV004767902]uncertain significance48469175984691759Humanname
408386567CV3522586single nucleotide variantNM_014991.6(WDFY3):c.8732T>C (p.Ile2911Thr)not provided [RCV004767946]uncertain significance48469613984696139Humanname
408391615CV3523279single nucleotide variantNM_014991.6(WDFY3):c.6151C>A (p.Arg2051Ser)not provided [RCV004770652]uncertain significance48474184484741844Humanname
408380648CV3523617single nucleotide variantNM_014991.6(WDFY3):c.3310A>G (p.Ser1104Gly)not provided [RCV004766015]uncertain significance48479469684794696Humanname
408380896CV3523695single nucleotide variantNM_014991.6(WDFY3):c.7179T>G (p.His2393Gln)not provided [RCV004766093]uncertain significance48473342484733424Humanname
408387048CV3524365single nucleotide variantNM_014991.6(WDFY3):c.6940C>T (p.His2314Tyr)not provided [RCV004768239]uncertain significance48473509684735096Humanname
408390107CV3524927single nucleotide variantNM_014991.6(WDFY3):c.6931A>G (p.Met2311Val)not provided [RCV004769822]uncertain significance48473510584735105Humanname
408390118CV3524933single nucleotide variantNM_014991.6(WDFY3):c.9841G>C (p.Glu3281Gln)not provided [RCV004769828]uncertain significance48467922584679225Humanname
408392292CV3525190single nucleotide variantNM_014991.6(WDFY3):c.8866G>C (p.Gly2956Arg)not provided [RCV004771076]uncertain significance48469600584696005Humanname
408388072CV3527343single nucleotide variantNM_014991.6(WDFY3):c.9181C>A (p.Leu3061Met)not provided [RCV004773645]uncertain significance48469165484691654Humanname
408390369CV3527525single nucleotide variantNM_014991.6(WDFY3):c.9199G>A (p.Asp3067Asn)not provided [RCV004774792]uncertain significance48469163684691636Humanname
408390926CV3527745single nucleotide variantNM_014991.6(WDFY3):c.4363C>G (p.Gln1455Glu)not provided [RCV004775014]uncertain significance48478011084780110Humanname
408386491CV3528953single nucleotide variantNM_014991.6(WDFY3):c.9901C>G (p.Pro3301Ala)not provided [RCV004772786]uncertain significance48467916584679165Humanname
408388657CV3529079single nucleotide variantNM_014991.6(WDFY3):c.5452A>G (p.Ile1818Val)not provided [RCV004773901]uncertain significance48475537384755373Humanname
408388663CV3529081single nucleotide variantNM_014991.6(WDFY3):c.4044C>G (p.Ser1348Arg)not provided [RCV004773903]uncertain significance48478599784785997Humanname
596930918CV3529742single nucleotide variantNM_014991.6(WDFY3):c.3131C>T (p.Ala1044Val)not provided [RCV004780791]uncertain significance48479655784796557Humanname
596922955CV3530183single nucleotide variantNM_014991.6(WDFY3):c.7642C>G (p.Leu2548Val)not provided [RCV004776782]uncertain significance48471853484718534Humanname
596922956CV3530184single nucleotide variantNM_014991.6(WDFY3):c.7226A>C (p.Glu2409Ala)not provided [RCV004776783]uncertain significance48472690784726907Humanname
596923205CV3530297single nucleotide variantNM_014991.6(WDFY3):c.8864T>C (p.Ile2955Thr)not provided [RCV004776896]likely pathogenic48469600784696007Humanname
596923365CV3530351single nucleotide variantNM_014991.6(WDFY3):c.6984A>T (p.Glu2328Asp)not provided [RCV004776950]uncertain significance48473505284735052Humanname
596925633CV3530535single nucleotide variantNM_014991.6(WDFY3):c.6335A>T (p.Gln2112Leu)not provided [RCV004778120]uncertain significance48474031684740316Humanname
596926163CV3530717single nucleotide variantNM_014991.6(WDFY3):c.8101G>A (p.Gly2701Ser)not provided [RCV004778302]uncertain significance48470902584709025Humanname
596931670CV3531932single nucleotide variantNM_014991.6(WDFY3):c.9775C>G (p.Pro3259Ala)not provided [RCV004781494]uncertain significance48468242284682422Humanname
596931672CV3531933single nucleotide variantNM_014991.6(WDFY3):c.6017A>T (p.Gln2006Leu)not provided [RCV004781495]uncertain significance48474375684743756Humanname
596927941CV3532715single nucleotide variantNM_014991.6(WDFY3):c.3215A>G (p.Asn1072Ser)Inborn genetic diseases [RCV005301456]|not provided [RCV004778813]uncertain significance48479493284794932Human1name
596921173CV3534815single nucleotide variantNM_014991.6(WDFY3):c.3526C>A (p.Leu1176Ile)not provided [RCV004784373]uncertain significance48478986984789869Humanname
596921377CV3534999single nucleotide variantNM_014991.6(WDFY3):c.6371C>T (p.Thr2124Ile)not provided [RCV004784557]uncertain significance48474028084740280Humanname
596925492CV3535811single nucleotide variantNM_014991.6(WDFY3):c.9398C>G (p.Ala3133Gly)Neurodevelopmental disorder [RCV004788241]uncertain significance48468823184688231Human1name
596922303CV3537101single nucleotide variantNM_014991.6(WDFY3):c.9707A>G (p.His3236Arg)not provided [RCV004786096]uncertain significance48468396284683962Humanname
596922365CV3537140single nucleotide variantNM_014991.6(WDFY3):c.5908A>C (p.Ile1970Leu)not provided [RCV004786136]uncertain significance48475154884751548Humanname
596928658CV3540499single nucleotide variantNM_014991.6(WDFY3):c.7978C>T (p.Pro2660Ser)Inborn genetic diseases [RCV005291122]|not provided [RCV004794826]uncertain significance48471322384713223Human1name
596928786CV3540559single nucleotide variantNM_014991.6(WDFY3):c.8884G>A (p.Gly2962Ser)not provided [RCV004794886]uncertain significance48469598784695987Humanname
596928898CV3540605single nucleotide variantNM_014991.6(WDFY3):c.8758C>T (p.Gln2920Ter)not provided [RCV004794933]pathogenic48469611384696113Humanname
596945002CV3543658single nucleotide variantNM_014991.6(WDFY3):c.5962C>G (p.Leu1988Val)not provided [RCV004801780]uncertain significance48475149484751494Humanname
596938856CV3549862single nucleotide variantNM_014991.6(WDFY3):c.7264C>T (p.Pro2422Ser)not provided [RCV004812903]uncertain significance48472686984726869Humanname
596939882CV3550664single nucleotide variantNM_014991.6(WDFY3):c.6283C>G (p.Leu2095Val)not provided [RCV004814564]uncertain significance48474036884740368Humanname
596940168CV3550816single nucleotide variantNM_014991.6(WDFY3):c.5737A>G (p.Met1913Val)not provided [RCV004814716]uncertain significance48475369984753699Humanname
597648146CV3551686single nucleotide variantNM_014991.6(WDFY3):c.4777A>T (p.Thr1593Ser)not provided [RCV004820399]uncertain significance48477290784772907Humanname
597648630CV3551741single nucleotide variantNM_014991.6(WDFY3):c.4030A>G (p.Asn1344Asp)not provided [RCV004820454]uncertain significance48478601184786011Humanname
597651627CV3552023single nucleotide variantNM_014991.6(WDFY3):c.9265A>G (p.Asn3089Asp)not provided [RCV004820736]uncertain significance48469060484690604Humanname
597623068CV3552453single nucleotide variantNM_014991.6(WDFY3):c.9156G>A (p.Trp3052Ter)Macrocephaly-autism syndrome [RCV004821399]likely pathogenic48469167984691679Human1name
597631657CV3552669single nucleotide variantNM_014991.6(WDFY3):c.5858T>G (p.Leu1953Arg)not provided [RCV004823369]uncertain significance48475159884751598Humanname
597630279CV3623787single nucleotide variantNM_014991.6(WDFY3):c.3980A>G (p.Tyr1327Cys)Inborn genetic diseases [RCV004967277]likely benign48478606184786061Human1name
597630283CV3623788single nucleotide variantNM_014991.6(WDFY3):c.5299A>G (p.Thr1767Ala)Inborn genetic diseases [RCV004967278]uncertain significance48475705184757051Human1name
597630292CV3623790single nucleotide variantNM_014991.6(WDFY3):c.5004T>G (p.Phe1668Leu)Inborn genetic diseases [RCV004967280]likely benign48476599484765994Human1name
597630308CV3623794single nucleotide variantNM_014991.6(WDFY3):c.5593C>T (p.Arg1865Ter)Inborn genetic diseases [RCV004967284]pathogenic48475384384753843Human1name
597630317CV3623796single nucleotide variantNM_014991.6(WDFY3):c.7369G>A (p.Val2457Met)Inborn genetic diseases [RCV004967286]uncertain significance48472449884724498Human1name
597630328CV3623799single nucleotide variantNM_014991.6(WDFY3):c.8488G>A (p.Glu2830Lys)Inborn genetic diseases [RCV004967289]uncertain significance48470246184702461Human1name
597630332CV3623800single nucleotide variantNM_014991.6(WDFY3):c.7552G>C (p.Glu2518Gln)Inborn genetic diseases [RCV004967290]uncertain significance48472146284721462Human1name
597630336CV3623801single nucleotide variantNM_014991.6(WDFY3):c.6943A>G (p.Ile2315Val)Inborn genetic diseases [RCV004967291]uncertain significance48473509384735093Human1name
597630349CV3623804single nucleotide variantNM_014991.6(WDFY3):c.9608T>C (p.Val3203Ala)Inborn genetic diseases [RCV004967294]uncertain significance48468406184684061Human1name
597630354CV3623805single nucleotide variantNM_014991.6(WDFY3):c.3985C>T (p.Leu1329Phe)Inborn genetic diseases [RCV004967295]uncertain significance48478605684786056Human1name
597630357CV3623806single nucleotide variantNM_014991.6(WDFY3):c.8243C>T (p.Thr2748Met)Inborn genetic diseases [RCV004967296]uncertain significance48470548684705486Human1name
597630361CV3623807single nucleotide variantNM_014991.6(WDFY3):c.8480G>A (p.Ser2827Asn)Inborn genetic diseases [RCV004967297]uncertain significance48470246984702469Human1name
597630366CV3623808single nucleotide variantNM_014991.6(WDFY3):c.5357G>C (p.Ser1786Thr)Inborn genetic diseases [RCV004967298]uncertain significance48475699384756993Human1name
597630370CV3623809single nucleotide variantNM_014991.6(WDFY3):c.4832A>G (p.Glu1611Gly)Inborn genetic diseases [RCV004967299]uncertain significance48477285284772852Human1name
597630373CV3623810single nucleotide variantNM_014991.6(WDFY3):c.7829C>T (p.Ala2610Val)Inborn genetic diseases [RCV004967300]uncertain significance48471694284716942Human1name
597630378CV3623811single nucleotide variantNM_014991.6(WDFY3):c.3556G>A (p.Glu1186Lys)Inborn genetic diseases [RCV004967301]uncertain significance48478983984789839Human1name
597630382CV3623812single nucleotide variantNM_014991.6(WDFY3):c.6605G>C (p.Arg2202Thr)Inborn genetic diseases [RCV004967302]uncertain significance48473733684737336Human1name
597630386CV3623813single nucleotide variantNM_014991.6(WDFY3):c.3526C>T (p.Leu1176Phe)Inborn genetic diseases [RCV004967303]uncertain significance48478986984789869Human1name
597630397CV3623815single nucleotide variantNM_014991.6(WDFY3):c.7657G>C (p.Gly2553Arg)Inborn genetic diseases [RCV004967305]likely pathogenic|uncertain significance48471851984718519Human1name
597630400CV3623816single nucleotide variantNM_014991.6(WDFY3):c.6886G>C (p.Gly2296Arg)Inborn genetic diseases [RCV004967306]uncertain significance48473619984736199Human1name
597630404CV3623817single nucleotide variantNM_014991.6(WDFY3):c.3172C>A (p.Leu1058Ile)Inborn genetic diseases [RCV004967307]uncertain significance48479497584794975Human1name
597696018CV3727870single nucleotide variantNM_014991.6(WDFY3):c.9841G>A (p.Glu3281Lys)Microcephaly 18, primary, autosomal dominant [RCV005032971]uncertain significance48467922584679225Human1name
597654046CV3731383single nucleotide variantNM_014991.6(WDFY3):c.4816A>T (p.Met1606Leu)not provided [RCV005001563]uncertain significance48477286884772868Humanname
597663905CV3732476single nucleotide variantNM_014991.6(WDFY3):c.8243C>G (p.Thr2748Arg)not provided [RCV005003945]uncertain significance48470548684705486Humanname
597669586CV3732791single nucleotide variantNM_014991.6(WDFY3):c.9374G>A (p.Gly3125Asp)not provided [RCV005004623]uncertain significance48468825584688255Humanname
597716574CV3733276single nucleotide variantNM_014991.6(WDFY3):c.5309C>T (p.Pro1770Leu)not provided [RCV005052466]uncertain significance48475704184757041Humanname
597718250CV3733406single nucleotide variantNM_014991.6(WDFY3):c.7415G>C (p.Gly2472Ala)not provided [RCV005052596]uncertain significance48472445284724452Humanname
597833402CV3735566single nucleotide variantNM_014991.6(WDFY3):c.8605C>A (p.Gln2869Lys)not provided [RCV005063428]uncertain significance48469681584696815Humanname
597834123CV3735763single nucleotide variantNM_014991.6(WDFY3):c.5392G>T (p.Val1798Phe)not provided [RCV005063626]uncertain significance48475695884756958Humanname
598126923CV3882373single nucleotide variantNM_014991.6(WDFY3):c.4393C>T (p.Arg1465Cys)not provided [RCV005233924]uncertain significance48477862884778628Humanname
598127083CV3882451single nucleotide variantNM_014991.6(WDFY3):c.6023A>G (p.Tyr2008Cys)not provided [RCV005234003]uncertain significance48474375084743750Humanname
598127180CV3882500single nucleotide variantNM_014991.6(WDFY3):c.6845T>A (p.Leu2282His)not provided [RCV005234052]uncertain significance48473624084736240Humanname
598127225CV3882522single nucleotide variantNM_014991.6(WDFY3):c.7029G>C (p.Glu2343Asp)not provided [RCV005234074]uncertain significance48473357484733574Humanname
598122191CV3884255single nucleotide variantNM_014991.6(WDFY3):c.9467T>C (p.Leu3156Ser)not specified [RCV005236945]uncertain significance48468816284688162Humanname
598122404CV3884379single nucleotide variantNM_014991.6(WDFY3):c.6326C>T (p.Thr2109Ile)not specified [RCV005237070]uncertain significance48474032584740325Humanname
598125611CV3885844single nucleotide variantNM_014991.6(WDFY3):c.5804C>T (p.Thr1935Ile)not provided [RCV005241647]uncertain significance48475165284751652Humanname
598126392CV3886245single nucleotide variantNM_014991.6(WDFY3):c.4504C>T (p.Leu1502Phe)not provided [RCV005242048]uncertain significance48477851784778517Humanname
598126405CV3886253single nucleotide variantNM_014991.6(WDFY3):c.8921C>T (p.Pro2974Leu)not provided [RCV005242056]uncertain significance48469301384693013Humanname
598126407CV3886254single nucleotide variantNM_014991.6(WDFY3):c.7918C>T (p.Leu2640Phe)not provided [RCV005242057]uncertain significance48471534184715341Humanname
598123029CV3890170single nucleotide variantNM_014991.6(WDFY3):c.4142G>A (p.Arg1381Gln)not provided [RCV005250689]uncertain significance48478299584782995Humanname
598123220CV3890249single nucleotide variantNM_014991.6(WDFY3):c.8905T>C (p.Phe2969Leu)not provided [RCV005250768]uncertain significance48469302984693029Humanname
598123710CV3890433single nucleotide variantNM_014991.6(WDFY3):c.6152G>A (p.Arg2051His)not provided [RCV005250952]uncertain significance48474184384741843Humanname
598215024CV3890780single nucleotide variantNM_014991.6(WDFY3):c.6388A>G (p.Ile2130Val)not provided [RCV005251633]uncertain significance48474026384740263Humanname
598175170CV3890969single nucleotide variantNM_014991.6(WDFY3):c.3608G>T (p.Gly1203Val)not provided [RCV005251822]uncertain significance48478978784789787Humanname
598175867CV3891057single nucleotide variantNM_014991.6(WDFY3):c.8919T>A (p.His2973Gln)not provided [RCV005251910]uncertain significance48469301584693015Humanname
598237923CV3893380single nucleotide variantNM_014991.6(WDFY3):c.8642C>T (p.Pro2881Leu)not provided [RCV005256113]uncertain significance48469677884696778Humanname
598237021CV3893446single nucleotide variantNM_014991.6(WDFY3):c.7044G>C (p.Glu2348Asp)not provided [RCV005256179]uncertain significance48473355984733559Humanname
598233395CV3893685single nucleotide variantNM_014991.6(WDFY3):c.6455A>C (p.His2152Pro)not provided [RCV005256418]uncertain significance48474019684740196Humanname
598159917CV3897185single nucleotide variantNM_014991.6(WDFY3):c.5054C>A (p.Thr1685Lys)not provided [RCV005368159]uncertain significance48476594484765944Humanname
598219087CV3936883single nucleotide variantNM_014991.6(WDFY3):c.4768A>G (p.Ile1590Val)Inborn genetic diseases [RCV005293265]uncertain significance48477291684772916Human1name
598219106CV3936886single nucleotide variantNM_014991.6(WDFY3):c.9475C>G (p.Leu3159Val)Inborn genetic diseases [RCV005293268]uncertain significance48468815484688154Human1name
598257056CV3936887single nucleotide variantNM_014991.6(WDFY3):c.3845C>T (p.Thr1282Ile)Inborn genetic diseases [RCV005299739]likely benign48478753884787538Human1name
598219118CV3936889single nucleotide variantNM_014991.6(WDFY3):c.6640G>A (p.Val2214Ile)Inborn genetic diseases [RCV005293270]uncertain significance48473730184737301Human1name
598257067CV3936893single nucleotide variantNM_014991.6(WDFY3):c.6628A>C (p.Ser2210Arg)Inborn genetic diseases [RCV005299742]uncertain significance48473731384737313Human1name
598219128CV3936894single nucleotide variantNM_014991.6(WDFY3):c.8930G>A (p.Arg2977Gln)Inborn genetic diseases [RCV005293272]uncertain significance48469300484693004Human1name
598257072CV3936896single nucleotide variantNM_014991.6(WDFY3):c.6554A>G (p.Tyr2185Cys)Inborn genetic diseases [RCV005299743]uncertain significance48473903084739030Human1name
598257077CV3936897single nucleotide variantNM_014991.6(WDFY3):c.5861C>A (p.Thr1954Asn)Inborn genetic diseases [RCV005299744]uncertain significance48475159584751595Human1name
598257085CV3936899single nucleotide variantNM_014991.6(WDFY3):c.5056G>A (p.Ala1686Thr)Inborn genetic diseases [RCV005299746]uncertain significance48476594284765942Human1name
598219138CV3936900single nucleotide variantNM_014991.6(WDFY3):c.9266A>G (p.Asn3089Ser)Inborn genetic diseases [RCV005293274]uncertain significance48469060384690603Human1name
598219143CV3936901single nucleotide variantNM_014991.6(WDFY3):c.6776T>C (p.Ile2259Thr)Inborn genetic diseases [RCV005293275]uncertain significance48473630984736309Human1name
598219147CV3936902single nucleotide variantNM_014991.6(WDFY3):c.4394G>A (p.Arg1465His)Inborn genetic diseases [RCV005293276]uncertain significance48477862784778627Human1name
598219155CV3936904single nucleotide variantNM_014991.6(WDFY3):c.3566T>C (p.Ile1189Thr)Inborn genetic diseases [RCV005293277]uncertain significance48478982984789829Human1name
598189929CV4008765single nucleotide variantNM_014991.6(WDFY3):c.3220G>A (p.Val1074Ile)Microcephaly 18, primary, autosomal dominant [RCV005396264]uncertain significance48479492784794927Human1name
598189933CV4008766single nucleotide variantNM_014991.6(WDFY3):c.3892T>G (p.Cys1298Gly)Microcephaly 18, primary, autosomal dominant [RCV005396265]uncertain significance48478749184787491Human1name
616934990CV4009217single nucleotide variantNM_014991.6(WDFY3):c.4660C>T (p.Arg1554Ter)not provided [RCV005402389]pathogenic48477491484774914Humanname
616935262CV4009418single nucleotide variantNM_014991.6(WDFY3):c.9200A>G (p.Asp3067Gly)not provided [RCV005402590]uncertain significance48469163584691635Humanname
616935277CV4009427single nucleotide variantNM_014991.6(WDFY3):c.4465A>T (p.Thr1489Ser)not provided [RCV005402599]uncertain significance48477855684778556Humanname
616935392CV4009501single nucleotide variantNM_014991.6(WDFY3):c.7066G>A (p.Gly2356Arg)not provided [RCV005402673]uncertain significance48473353784733537Humanname
616937842CV4013195single nucleotide variantNM_014991.6(WDFY3):c.8568C>A (p.Phe2856Leu)not provided [RCV005410662]uncertain significance48470238184702381Humanname
616938515CV4015007single nucleotide variantNM_014991.6(WDFY3):c.4622G>C (p.Arg1541Thr)not provided [RCV005412023]uncertain significance48477495284774952Humanname
616939269CV4015599single nucleotide variantNM_014991.6(WDFY3):c.5948C>T (p.Thr1983Ile)not provided [RCV005413111]uncertain significance48475150884751508Humanname
616939278CV4015609single nucleotide variantNM_014991.6(WDFY3):c.6449A>G (p.Asn2150Ser)not provided [RCV005413121]uncertain significance48474020284740202Humanname
616935553CV4016106single nucleotide variantNM_014991.6(WDFY3):c.3414C>A (p.Cys1138Ter)not provided [RCV005414972]pathogenic48479459284794592Humanname
616936712CV4016371single nucleotide variantNM_014991.6(WDFY3):c.4916A>G (p.Asp1639Gly)not provided [RCV005415237]uncertain significance48476630684766306Humanname
616936369CV4016404single nucleotide variantNM_014991.6(WDFY3):c.3053C>A (p.Pro1018His)not provided [RCV005415270]uncertain significance48479663584796635Humanname
617150139CV4017170single nucleotide variantNM_014991.6(WDFY3):c.7657G>A (p.Gly2553Arg)not provided [RCV005416827]uncertain significance48471851984718519Humanname
617150716CV4018815single nucleotide variantNM_014991.6(WDFY3):c.9343A>G (p.Lys3115Glu)not provided [RCV005423223]uncertain significance48469052684690526Humanname
617150218CV4019174single nucleotide variantNM_014991.6(WDFY3):c.8288G>A (p.Arg2763Gln)not provided [RCV005423582]uncertain significance48470544184705441Humanname
617154038CV4022201single nucleotide variantNM_014991.6(WDFY3):c.5276T>C (p.Leu1759Pro)not provided [RCV005429557]uncertain significance48475707484757074Humanname
617154373CV4022613single nucleotide variantNM_014991.6(WDFY3):c.8812G>A (p.Gly2938Ser)not provided [RCV005429970]uncertain significance48469605984696059Humanname
13208157CV424490single nucleotide variantNM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)Neurodevelopmental delay [RCV001782990]|not provided [RCV004721395]|not specified [RCV000496030]likely pathogenic|uncertain significance48470248284702482Human1name
13463097CV439618single nucleotide variantNM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp)Microcephaly 18, primary, autosomal dominant [RCV000515507]|not provided [RCV002524999]pathogenic48471535084715350Human1name
13518629CV486359single nucleotide variantNM_014991.6(WDFY3):c.5893T>C (p.Phe1965Leu)Inborn genetic diseases [RCV003243204]|not provided [RCV000584962]likely benign|uncertain significance48475156384751563Human1name
14396993CV612686single nucleotide variantNM_014991.6(WDFY3):c.7397A>G (p.Gln2466Arg)not provided [RCV000762098]|not specified [RCV005240539]uncertain significance48472447084724470Humanname
21071323CV790486single nucleotide variantNM_014991.6(WDFY3):c.8444G>T (p.Gly2815Val)Prostate cancer [RCV000987454]likely pathogenic48470250584702505Human2name
21068857CV795598single nucleotide variantNM_014991.6(WDFY3):c.7189G>A (p.Val2397Met)not provided [RCV000998240]uncertain significance48473341484733414Humanname
34889397CV904895single nucleotide variantNM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys)Esophageal atresia/tracheoesophageal fistula [RCV001172305]|Inborn genetic diseases [RCV002558733]|not specified [RCV002249754]likely pathogenic|benign|uncertain significance48478764684787646Human2name
34896012CV916933single nucleotide variantNM_014991.6(WDFY3):c.7799G>A (p.Ser2600Asn)not specified [RCV001193266]uncertain significance48471697284716972Humanname
38598474CV964235single nucleotide variantNM_014991.6(WDFY3):c.6820T>C (p.Ser2274Pro)Microcephaly 18, primary, autosomal dominant [RCV001253647]uncertain significance48473626584736265Human1name
39456380CV965483single nucleotide variantNM_014991.6(WDFY3):c.3034G>C (p.Ala1012Pro)Inborn genetic diseases [RCV004035340]|not provided [RCV001254961]uncertain significance48479665484796654Human1name
39456915CV966245single nucleotide variantNM_014991.6(WDFY3):c.5402G>A (p.Cys1801Tyr)Microcephaly 18, primary, autosomal dominant [RCV004799373]uncertain significance48475694884756948Human1name
40886861CV973431single nucleotide variantNM_014991.6(WDFY3):c.7906G>A (p.Gly2636Arg)Inborn genetic diseases [RCV001266148]uncertain significance48471535384715353Human1name
126741318CV1020018single nucleotide variantNM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys)Inborn genetic diseases [RCV002546768]|Microcephaly 18, primary, autosomal dominant [RCV001336227]likely benign|uncertain significance48467296384672963Human2name
150529267CV1288822single nucleotide variantNM_014991.6(WDFY3):c.10334G>A (p.Arg3445His)not provided [RCV001727290]uncertain significance48467732284677322Humanname
150550111CV1299830single nucleotide variantNM_014991.6(WDFY3):c.10345G>A (p.Asp3449Asn)not provided [RCV001752756]uncertain significance48467731184677311Humanname
151232591CV1316849single nucleotide variantNM_014991.6(WDFY3):c.10475C>G (p.Ser3492Cys)not provided [RCV001786669]uncertain significance48467297484672974Humanname
151803732CV1424701single nucleotide variantNM_014991.6(WDFY3):c.10216G>A (p.Asp3406Asn)not provided [RCV001867362]uncertain significance48467821184678211Humanname
153301576CV1687864single nucleotide variantNM_014991.6(WDFY3):c.10102C>G (p.His3368Asp)not provided [RCV002265090]uncertain significance48467896484678964Humanname
155265311CV1695503single nucleotide variantNM_014991.6(WDFY3):c.10537T>G (p.Leu3513Val)not provided [RCV002280235]uncertain significance48467291284672912Humanname
155267323CV1699544single nucleotide variantNM_014991.6(WDFY3):c.10280T>G (p.Val3427Gly)not provided [RCV002283339]uncertain significance48467737684677376Humanname
155642214CV1707282single nucleotide variantNM_014991.6(WDFY3):c.10076A>G (p.His3359Arg)not provided [RCV002288212]uncertain significance48467899084678990Humanname
155959188CV1936435single nucleotide variantNM_014991.6(WDFY3):c.10531T>C (p.Tyr3511His)not provided [RCV002512251]uncertain significance48467291884672918Humanname
156046423CV2216083single nucleotide variantNM_014991.6(WDFY3):c.10087C>T (p.Pro3363Ser)Inborn genetic diseases [RCV002692590]uncertain significance48467897984678979Human1name
156259684CV2216256single nucleotide variantNM_014991.6(WDFY3):c.10315G>C (p.Val3439Leu)Inborn genetic diseases [RCV002702948]uncertain significance48467734184677341Human1name
156298201CV2247021single nucleotide variantNM_014991.6(WDFY3):c.10033G>A (p.Gly3345Ser)Inborn genetic diseases [RCV002807872]uncertain significance48467903384679033Human1name
156281394CV2288743single nucleotide variantNM_014991.6(WDFY3):c.10039A>G (p.Ile3347Val)Inborn genetic diseases [RCV002878221]uncertain significance48467902784679027Human1name
243050649CV2403832single nucleotide variantNM_014991.6(WDFY3):c.10418G>A (p.Arg3473Gln)See cases [RCV003128503]uncertain significance48467723884677238Humanname
243062040CV2414245single nucleotide variantNM_014991.6(WDFY3):c.10114A>C (p.Ile3372Leu)Inborn genetic diseases [RCV004963572]|Microcephaly 18, primary, autosomal dominant [RCV003139314]likely benign|uncertain significance48467895284678952Human2name
243049787CV2417163single nucleotide variantNM_014991.6(WDFY3):c.10220A>G (p.Asn3407Ser)not provided [RCV003152034]uncertain significance48467820784678207Humanname
401723430CV2724898single nucleotide variantNM_014991.6(WDFY3):c.10567C>T (p.Pro3523Ser)Inborn genetic diseases [RCV003268325]uncertain significance48467288284672882Human1name
401799129CV2741705single nucleotide variantNM_014991.6(WDFY3):c.10120G>A (p.Val3374Met)not provided [RCV003323113]uncertain significance48467894684678946Humanname
401829178CV2747267single nucleotide variantNM_014991.6(WDFY3):c.10292G>A (p.Arg3431Gln)not provided [RCV003328732]uncertain significance48467736484677364Humanname
401865318CV2791605single nucleotide variantNM_014991.6(WDFY3):c.10040T>C (p.Ile3347Thr)Inborn genetic diseases [RCV003379330]uncertain significance48467902684679026Human1name
401879415CV2791606single nucleotide variantNM_014991.6(WDFY3):c.10045G>T (p.Val3349Leu)Inborn genetic diseases [RCV003384653]uncertain significance48467902184679021Human1name
401905402CV2796228single nucleotide variantNM_014991.6(WDFY3):c.10417C>T (p.Arg3473Ter)WDFY3-related disorder [RCV004538983]|not provided [RCV004794640]uncertain significance48467723984677239Human1name , trait
401913067CV2830179single nucleotide variantNM_014991.6(WDFY3):c.10016G>A (p.Ser3339Asn)not provided [RCV003441394]uncertain significance48467905084679050Humanname
401914793CV2830839single nucleotide variantNM_014991.6(WDFY3):c.10195C>T (p.His3399Tyr)not provided [RCV003442578]uncertain significance48467823284678232Humanname
405291395CV3222376single nucleotide variantNM_014991.6(WDFY3):c.10055C>G (p.Ser3352Ter)Microcephaly 18, primary, autosomal dominant [RCV003985683]not provided48467901184679011Humanname
405802071CV3349004single nucleotide variantNM_014991.6(WDFY3):c.10186C>G (p.Leu3396Val)Inborn genetic diseases [RCV004478079]uncertain significance48467824184678241Human1name
405802069CV3349005single nucleotide variantNM_014991.6(WDFY3):c.10226A>G (p.His3409Arg)Inborn genetic diseases [RCV004478080]uncertain significance48467820184678201Human1name
407465224CV3489616single nucleotide variantNM_014991.6(WDFY3):c.10280T>C (p.Val3427Ala)Inborn genetic diseases [RCV004688712]uncertain significance48467737684677376Human1name
408373530CV3502282single nucleotide variantNM_014991.6(WDFY3):c.10153C>T (p.Arg3385Ter)not provided [RCV004725869]pathogenic48467827484678274Humanname
408387227CV3518760single nucleotide variantNM_014991.6(WDFY3):c.10565G>A (p.Gly3522Glu)not provided [RCV004761079]uncertain significance48467288484672884Humanname
408390576CV3519426single nucleotide variantNM_014991.6(WDFY3):c.10247T>C (p.Leu3416Ser)not provided [RCV004762735]uncertain significance48467818084678180Humanname
408387486CV3524550single nucleotide variantNM_014991.6(WDFY3):c.10210C>G (p.Arg3404Gly)not provided [RCV004768424]uncertain significance48467821784678217Humanname
596926597CV3536276single nucleotide variantNM_014991.6(WDFY3):c.10117G>T (p.Glu3373Ter)Neurodevelopmental disorder [RCV004789683]pathogenic48467894984678949Human1name
596942648CV3542650single nucleotide variantNM_014991.6(WDFY3):c.10375A>G (p.Ser3459Gly)not provided [RCV004798234]uncertain significance48467728184677281Humanname
597630276CV3623786single nucleotide variantNM_014991.6(WDFY3):c.10124G>A (p.Arg3375Gln)Inborn genetic diseases [RCV004967276]uncertain significance48467894284678942Human1name
597630345CV3623803single nucleotide variantNM_014991.6(WDFY3):c.10358A>G (p.Lys3453Arg)Inborn genetic diseases [RCV004967293]uncertain significance48467729884677298Human1name
597834189CV3735778single nucleotide variantNM_014991.6(WDFY3):c.10523A>G (p.Asn3508Ser)not provided [RCV005063641]uncertain significance48467292684672926Humanname
598232923CV3886495deletionNM_014991.6(WDFY3):c.941_945del (p.Cys314fs)Microcephaly 18, primary, autosomal dominant [RCV005255939]likely pathogenic48482901584829019Human1name
598199844CV3892593single nucleotide variantNM_014991.6(WDFY3):c.10159G>A (p.Glu3387Lys)not provided [RCV005254426]uncertain significance48467826884678268Humanname
617150004CV4017231single nucleotide variantNM_014991.6(WDFY3):c.10003T>G (p.Ser3335Ala)not provided [RCV005416888]uncertain significance48467906384679063Humanname
150549261CV1295060deletionNM_014991.6(WDFY3):c.2222_2225del (p.Thr741fs)not provided [RCV001765021]uncertain significance48481000784810010Humanname
596929224CV3531015microsatelliteNM_014991.6(WDFY3):c.6782GAG[1] (p.Gly2262del)not provided [RCV004779589]uncertain significance48473629884736300Humanname
616939183CV4015513microsatelliteNM_014991.6(WDFY3):c.4771TCT[1] (p.Ser1592del)not provided [RCV005413025]uncertain significance48477290884772910Humanname
38596918CV963568deletionNM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs)Microcephaly 18, primary, autosomal dominant [RCV001252629]pathogenic48480343784803438Human1name
126731693CV1020020deletionNM_014991.6(WDFY3):c.6739_6740del (p.Cys2247fs)not provided [RCV005412851]pathogenic48473720184737202Humanname
127286218CV1161800deletionNM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs)Macrocephaly [RCV001526633]|Microcephaly 18, primary, autosomal dominant [RCV003151864]likely pathogenic48476588384765884Human3name
150547416CV1316014microsatelliteNM_014991.6(WDFY3):c.7375_7376dup (p.Ser2459fs)Neurodevelopmental delay [RCV001785290]likely pathogenic48472449084724491Humanname
150547432CV1316022deletionNM_014991.6(WDFY3):c.9017_9027del (p.Asp3006fs)Neurodevelopmental delay [RCV001785298]likely pathogenic48469290784692917Human1name
150547440CV1316026deletionNM_014991.6(WDFY3):c.9711_9714del (p.Asp3238fs)Neurodevelopmental delay [RCV001785302]likely pathogenic48468395584683958Human1name
156105155CV2361139microsatelliteNM_014991.6(WDFY3):c.10337CTG[2] (p.Ala3448del)Inborn genetic diseases [RCV002662223]uncertain significance48467731184677313Humanname
11345392CV237532duplicationNM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs)Neurodevelopmental delay [RCV001782714]|not specified [RCV000224989]pathogenic|likely pathogenic|uncertain significance48469600384696004Human1name
597630305CV3623793deletionNM_014991.6(WDFY3):c.7949_7950del (p.Lys2650fs)Inborn genetic diseases [RCV004967283]pathogenic48471530984715310Human1name
597937894CV3787965microsatelliteNM_014991.6(WDFY3):c.4826_4829del (p.Asn1609fs)not provided [RCV005132844]pathogenic48477285584772858Humanname
616935464CV4009538deletionNM_014991.6(WDFY3):c.1014_1016del (p.Ile339del)not provided [RCV005402710]uncertain significance48482692284826924Humanname
156220949CV2397369deletionNM_014991.6(WDFY3):c.6062_6064del (p.Asp2021del)Inborn genetic diseases [RCV002744726]uncertain significance48474370984743711Human1name
405855168CV3395766insertionNM_014991.6(WDFY3):c.7297_7298insC (p.Val2433fs)Microcephaly 18, primary, autosomal dominant [RCV004556029]pathogenic48472456984724570Human1name
401935056CV2798337indelNM_014991.6(WDFY3):c.349_350delinsGA (p.Ser117Asp)WDFY3-related disorder [RCV004539022]uncertain significance48484121884841219Humanname , trait
127328384CV976528microsatelliteNM_014991.6(WDFY3):c.349_350del (p.Gln116_Ser117insTer)not provided [RCV001507251]pathogenic48484121884841219Humanname
155641813CV1707143indelNM_014991.6(WDFY3):c.10491_10496delinsAAAAA (p.Ile3499fs)not provided [RCV002288073]uncertain significance48467295384672958Humanname
155798493CV1860683deletionNM_014991.6(WDFY3):c.9108_9113del (p.Glu3036_Asn3038delinsAsp)not provided [RCV002467326]uncertain significance48469172284691727Humanname
156440102CV2401787indelNM_014991.6(WDFY3):c.1201_1205delinsATTTC (p.Gln401_Ile402delinsIleSer)not provided [RCV003110075]uncertain significance48482147084821474Humanname