Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


213 records found for search term Dab2
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15153734CV730363single nucleotide variantNM_001343.4(DAB2):c.571-9T>Anot provided [RCV000880070]benign53938886139388861Humanname
15202588CV759414single nucleotide variantNM_001343.4(DAB2):c.570+7T>Cnot provided [RCV000913472]likely benign53938909039389090Humanname
15169127CV749515single nucleotide variantNM_001343.4(DAB2):c.267C>T (p.His89=)not provided [RCV000927434]likely benign53939242839392428Humanname
401780120CV2725883single nucleotide variantNM_001343.4(DAB2):c.65C>A (p.Ala22Glu)not specified [RCV004324262]uncertain significance53939425639394256Humanname
15172493CV709921single nucleotide variantNM_001343.4(DAB2):c.681T>C (p.Ser227=)not provided [RCV000972416]benign53938831139388311Humanname
15109232CV749513single nucleotide variantNM_001343.4(DAB2):c.888T>C (p.Arg296=)not provided [RCV000916295]benign53938307139383071Humanname
15200810CV749514single nucleotide variantNM_001343.4(DAB2):c.678T>C (p.Asn226=)not provided [RCV000912953]benign53938831439388314Humanname
15171947CV765139single nucleotide variantNM_001343.4(DAB2):c.576G>A (p.Gly192=)not provided [RCV000928010]likely benign53938884739388847Humanname
401771923CV2689654single nucleotide variantNM_001343.4(DAB2):c.232G>C (p.Gly78Arg)not specified [RCV004297581]uncertain significance53939246339392463Humanname
15202852CV749510single nucleotide variantNM_001343.4(DAB2):c.2286G>A (p.Arg762=)not provided [RCV000913577]likely benign53937504639375046Humanname
15203069CV749511single nucleotide variantNM_001343.4(DAB2):c.1587G>A (p.Pro529=)not provided [RCV000913702]likely benign53937720039377200Humanname
8631631CV86835single nucleotide variantNM_001343.3(DAB2):c.222G>A (p.Met74Ile)Malignant melanoma [RCV000066926]not provided53939326339393263Humanname
156031977CV2218179single nucleotide variantNM_001343.4(DAB2):c.901A>C (p.Thr301Pro)not specified [RCV004088388]uncertain significance53938305839383058Humanname
155975668CV2270097single nucleotide variantNM_001343.4(DAB2):c.397G>T (p.Ala133Ser)not specified [RCV004129058]uncertain significance53939050939390509Humanname
156277143CV2300109single nucleotide variantNM_001343.4(DAB2):c.661A>G (p.Thr221Ala)not specified [RCV004151307]uncertain significance53938833139388331Humanname
155952562CV2306139single nucleotide variantNM_001343.4(DAB2):c.871A>G (p.Asn291Asp)not specified [RCV004162891]uncertain significance53938308839383088Humanname
156304115CV2308570single nucleotide variantNM_001343.4(DAB2):c.475G>T (p.Val159Phe)not specified [RCV004166845]uncertain significance53938992039389920Humanname
156030330CV2379597single nucleotide variantNM_001343.4(DAB2):c.800G>A (p.Arg267Gln)not specified [RCV004217297]uncertain significance53938315939383159Humanname
329393035CV2469191single nucleotide variantNM_001343.4(DAB2):c.451A>T (p.Thr151Ser)not specified [RCV004280544]uncertain significance53939045539390455Humanname
401780780CV2685717single nucleotide variantNM_001343.4(DAB2):c.629T>A (p.Val210Asp)not specified [RCV004296764]uncertain significance53938836339388363Humanname
401775159CV2692278single nucleotide variantNM_001343.4(DAB2):c.553G>A (p.Ala185Thr)not specified [RCV004310276]uncertain significance53938911439389114Humanname
401771766CV2693492single nucleotide variantNM_001343.4(DAB2):c.677A>G (p.Asn226Ser)not specified [RCV004295434]uncertain significance53938831539388315Humanname
401889833CV2763440single nucleotide variantNM_001343.4(DAB2):c.922C>A (p.Pro308Thr)not specified [RCV004349328]uncertain significance53938303739383037Humanname
401875562CV2766095single nucleotide variantNM_001343.4(DAB2):c.617T>C (p.Leu206Pro)not provided [RCV004696514]|not specified [RCV004340551]uncertain significance53938880639388806Humanname
401917678CV2827743deletionNM_001343.4(DAB2):c.1194del (p.Phe398fs)not provided [RCV003429629]uncertain significance53938276539382765Humanname
405679034CV3236585single nucleotide variantNM_001343.4(DAB2):c.373G>T (p.Ala125Ser)not specified [RCV004370736]uncertain significance53939053339390533Humanname
405679039CV3236586single nucleotide variantNM_001343.4(DAB2):c.423A>C (p.Glu141Asp)not specified [RCV004370737]uncertain significance53939048339390483Humanname
405679045CV3236587single nucleotide variantNM_001343.4(DAB2):c.492C>A (p.Asp164Glu)not specified [RCV004370738]uncertain significance53938990339389903Humanname
405869575CV3397855single nucleotide variantNM_001343.4(DAB2):c.538A>T (p.Lys180Ter)Teratocarcinoma [RCV004566661]uncertain significance53938985739389857Human1name
407452803CV3420333single nucleotide variantNM_001343.4(DAB2):c.634C>A (p.Gln212Lys)not specified [RCV004608682]uncertain significance53938835839388358Humanname
597673716CV3655071single nucleotide variantNM_001343.4(DAB2):c.989C>T (p.Pro330Leu)not specified [RCV004913535]uncertain significance53938297039382970Humanname
597673733CV3655073single nucleotide variantNM_001343.4(DAB2):c.671A>T (p.Asp224Val)not specified [RCV004913537]uncertain significance53938832139388321Humanname
598250822CV3952729single nucleotide variantNM_001343.4(DAB2):c.788G>C (p.Cys263Ser)not specified [RCV005322946]uncertain significance53938317139383171Humanname
15168875CV709920single nucleotide variantNM_001343.4(DAB2):c.886C>T (p.Arg296Cys)not provided [RCV000971703]benign53938307339383073Humanname
8631630CV86834single nucleotide variantNM_001343.4(DAB2):c.917C>T (p.Ser306Leu)not specified [RCV005322948]uncertain significance|not provided53938304239383042Humanname
156137028CV2210348single nucleotide variantNM_001343.4(DAB2):c.1274A>G (p.His425Arg)not specified [RCV004089503]uncertain significance53938268539382685Humanname
156219643CV2225972single nucleotide variantNM_001343.4(DAB2):c.1729G>A (p.Ala577Thr)not specified [RCV004105136]uncertain significance53937705839377058Humanname
155991133CV2255624single nucleotide variantNM_001343.4(DAB2):c.1483G>A (p.Val495Met)not specified [RCV004120037]uncertain significance53938147539381475Humanname
156294255CV2293170single nucleotide variantNM_001343.4(DAB2):c.1024T>C (p.Tyr342His)not specified [RCV004150685]uncertain significance53938293539382935Humanname
156357823CV2318372single nucleotide variantNM_001343.4(DAB2):c.1615G>A (p.Gly539Ser)not specified [RCV004179532]uncertain significance53937717239377172Humanname
156361827CV2322877single nucleotide variantNM_001343.4(DAB2):c.2278A>T (p.Met760Leu)not specified [RCV004185333]uncertain significance53937505439375054Humanname
156233121CV2346172single nucleotide variantNM_001343.4(DAB2):c.1997T>G (p.Val666Gly)not specified [RCV004201630]uncertain significance53937679039376790Humanname
155926314CV2365733single nucleotide variantNM_001343.4(DAB2):c.2002G>A (p.Ala668Thr)not specified [RCV004214275]uncertain significance53937678539376785Humanname
155929606CV2389194single nucleotide variantNM_001343.4(DAB2):c.1583C>T (p.Ala528Val)not specified [RCV004235519]likely benign53937720439377204Humanname
329387424CV2464218single nucleotide variantNM_001343.4(DAB2):c.1000G>T (p.Gly334Trp)not specified [RCV004273893]uncertain significance53938295939382959Humanname
401724726CV2677971single nucleotide variantNM_001343.4(DAB2):c.1814C>A (p.Ser605Tyr)not specified [RCV004296502]uncertain significance53937697339376973Humanname
401736152CV2689270single nucleotide variantNM_001343.4(DAB2):c.2005C>G (p.Arg669Gly)not specified [RCV004306109]uncertain significance53937678239376782Humanname
401747221CV2692098single nucleotide variantNM_001343.4(DAB2):c.1034A>G (p.Gln345Arg)not specified [RCV004301810]uncertain significance53938292539382925Humanname
401885158CV2768009single nucleotide variantNM_001343.4(DAB2):c.2291C>T (p.Pro764Leu)not specified [RCV004348254]uncertain significance53937504139375041Humanname
401864524CV2781822single nucleotide variantNM_001343.4(DAB2):c.2030G>C (p.Gly677Ala)not specified [RCV004356776]uncertain significance53937675739376757Humanname
405678987CV3236576single nucleotide variantNM_001343.4(DAB2):c.1003C>T (p.Pro335Ser)not specified [RCV004370727]uncertain significance53938295639382956Humanname
405678991CV3236577single nucleotide variantNM_001343.4(DAB2):c.1057C>T (p.Arg353Trp)not specified [RCV004370728]uncertain significance53938290239382902Humanname
405678994CV3236578single nucleotide variantNM_001343.4(DAB2):c.1306A>T (p.Ser436Cys)not specified [RCV004370729]uncertain significance53938265339382653Humanname
405679000CV3236579single nucleotide variantNM_001343.4(DAB2):c.1586C>T (p.Pro529Leu)not specified [RCV004370730]uncertain significance53937720139377201Humanname
405679005CV3236580single nucleotide variantNM_001343.4(DAB2):c.1770G>T (p.Leu590Phe)not specified [RCV004370731]uncertain significance53937701739377017Humanname
405679011CV3236581single nucleotide variantNM_001343.4(DAB2):c.1836C>G (p.His612Gln)not specified [RCV004370732]uncertain significance53937695139376951Humanname
405679018CV3236582single nucleotide variantNM_001343.4(DAB2):c.1896C>G (p.Ile632Met)not specified [RCV004370733]uncertain significance53937689139376891Humanname
405679023CV3236583single nucleotide variantNM_001343.4(DAB2):c.1948G>T (p.Asp650Tyr)not specified [RCV004370734]uncertain significance53937683939376839Humanname
405679028CV3236584single nucleotide variantNM_001343.4(DAB2):c.2245T>C (p.Ser749Pro)not specified [RCV004370735]uncertain significance53937599939375999Humanname
407452805CV3420334single nucleotide variantNM_001343.4(DAB2):c.2113A>C (p.Asn705His)not specified [RCV004608683]uncertain significance53937667439376674Humanname
407452807CV3420335single nucleotide variantNM_001343.4(DAB2):c.1405C>G (p.Gln469Glu)not specified [RCV004608684]uncertain significance53938155339381553Humanname
407452811CV3420337single nucleotide variantNM_001343.4(DAB2):c.1420G>C (p.Gly474Arg)not specified [RCV004608686]uncertain significance53938153839381538Humanname
597673696CV3655067single nucleotide variantNM_001343.4(DAB2):c.1238A>T (p.Lys413Met)not specified [RCV004913533]uncertain significance53938272139382721Humanname
597673705CV3655068single nucleotide variantNM_001343.4(DAB2):c.1409C>T (p.Ala470Val)not specified [RCV004913534]uncertain significance53938154939381549Humanname
597783089CV3655069single nucleotide variantNM_001343.4(DAB2):c.1982G>A (p.Arg661Gln)not specified [RCV004900157]uncertain significance53937680539376805Humanname
597673724CV3655072single nucleotide variantNM_001343.4(DAB2):c.1858C>T (p.Pro620Ser)not specified [RCV004913536]uncertain significance53937692939376929Humanname
598250810CV3952727single nucleotide variantNM_001343.4(DAB2):c.2285G>A (p.Arg762Lys)not specified [RCV005322944]uncertain significance53937504739375047Humanname
598250817CV3952728single nucleotide variantNM_001343.4(DAB2):c.1642A>G (p.Thr548Ala)not specified [RCV005322945]uncertain significance53937714539377145Humanname
598250829CV3952730single nucleotide variantNM_001343.4(DAB2):c.1907C>A (p.Ala636Asp)not specified [RCV005322947]uncertain significance53937688039376880Humanname
598250841CV3952731single nucleotide variantNM_001343.4(DAB2):c.1232G>A (p.Gly411Asp)not specified [RCV005322949]uncertain significance53938272739382727Humanname
598250848CV3952732single nucleotide variantNM_001343.4(DAB2):c.1976A>G (p.Gln659Arg)not specified [RCV005322950]uncertain significance53937681139376811Humanname
15127083CV709919single nucleotide variantNM_001343.4(DAB2):c.1514C>T (p.Thr505Ile)not provided [RCV000963843]benign53937727339377273Humanname
15175637CV721457single nucleotide variantNM_001343.4(DAB2):c.1759A>G (p.Thr587Ala)not provided [RCV000884414]benign53937702839377028Humanname
15102303CV721458single nucleotide variantNM_001343.4(DAB2):c.1630G>A (p.Val544Ile)not provided [RCV000892451]benign53937715739377157Humanname
15202121CV721459single nucleotide variantNM_001343.4(DAB2):c.1288A>G (p.Ile430Val)not provided [RCV000891386]likely benign53938267139382671Humanname
15200806CV749512single nucleotide variantNM_001343.4(DAB2):c.1569G>C (p.Gln523His)not provided [RCV000912952]likely benign53937721839377218Humanname
401918436CV2826372single nucleotide variantNM_001395010.1(DAB2IP):c.363-19312G>Anot provided [RCV003430234]likely benign9121737701121737701Humanname
8633218CV88431single nucleotide variantNM_032552.3(DAB2IP):c.324C>T (p.Ser108=)Malignant melanoma [RCV000068523]not provided9121757058121757058Humanname
8633219CV88432single nucleotide variantNM_032552.3(DAB2IP):c.558C>T (p.Ile186=)Malignant melanoma [RCV000068524]not provided9121759911121759911Humanname
8633220CV88433single nucleotide variantNM_032552.3(DAB2IP):c.559C>T (p.Leu187=)Malignant melanoma [RCV000068525]not provided9121759912121759912Humanname
15123465CV711744single nucleotide variantNM_001395010.1(DAB2IP):c.291C>T (p.Asp97=)not provided [RCV000963246]benign|likely benign9121699387121699387Humanname
15198460CV723309single nucleotide variantNM_001395010.1(DAB2IP):c.204G>C (p.Ser68=)not provided [RCV000890363]likely benign9121678757121678757Humanname
407452825CV3420344single nucleotide variantNM_001395010.1(DAB2IP):c.798G>A (p.Pro266=)not specified [RCV004608693]likely benign9121760067121760067Humanname
15182108CV723310single nucleotide variantNM_001395010.1(DAB2IP):c.595C>A (p.Arg199=)not provided [RCV000885916]benign9121758976121758976Humanname
15192802CV736860single nucleotide variantNM_001395010.1(DAB2IP):c.378G>A (p.Pro126=)not provided [RCV000910650]likely benign9121757028121757028Humanname
15149449CV736861single nucleotide variantNM_001395010.1(DAB2IP):c.852G>A (p.Lys284=)not provided [RCV000900936]benign9121760121121760121Humanname
156153512CV2209447single nucleotide variantNM_001395010.1(DAB2IP):c.152G>A (p.Arg51Gln)not specified [RCV004093596]uncertain significance9121678705121678705Humanname
155918652CV2333042single nucleotide variantNM_001395010.1(DAB2IP):c.152G>T (p.Arg51Leu)not specified [RCV004194339]uncertain significance9121678705121678705Humanname
155982818CV2337208single nucleotide variantNM_001395010.1(DAB2IP):c.227C>T (p.Thr76Met)not specified [RCV004192963]uncertain significance9121678780121678780Humanname
329365178CV2440107single nucleotide variantNM_001395010.1(DAB2IP):c.229G>A (p.Gly77Ser)not specified [RCV004260571]uncertain significance9121699325121699325Humanname
401911129CV2826373single nucleotide variantNM_001395010.1(DAB2IP):c.2445C>T (p.Gly815=)not provided [RCV003425778]likely benign9121772973121772973Humanname
405679048CV3236588single nucleotide variantNM_001395010.1(DAB2IP):c.192C>A (p.Ser64Arg)not specified [RCV004370739]uncertain significance9121678745121678745Humanname
407452844CV3420353single nucleotide variantNM_001395010.1(DAB2IP):c.221G>T (p.Arg74Leu)not specified [RCV004608702]uncertain significance9121678774121678774Humanname
597673799CV3655081single nucleotide variantNM_001395010.1(DAB2IP):c.215C>T (p.Pro72Leu)not specified [RCV004913545]uncertain significance9121678768121678768Humanname
598250859CV3952734single nucleotide variantNM_001395010.1(DAB2IP):c.220C>T (p.Arg74Trp)not specified [RCV005322952]uncertain significance9121678773121678773Humanname
598250910CV3952743single nucleotide variantNM_001395010.1(DAB2IP):c.141G>T (p.Arg47Ser)not specified [RCV005322961]uncertain significance9121678694121678694Humanname
15191184CV700782single nucleotide variantNM_001395010.1(DAB2IP):c.1002C>T (p.Tyr334=)not provided [RCV000954700]benign9121760271121760271Humanname
15189941CV723311single nucleotide variantNM_001395010.1(DAB2IP):c.1101C>T (p.Leu367=)not provided [RCV000887963]benign9121760370121760370Humanname
156061919CV2240028single nucleotide variantNM_001395010.1(DAB2IP):c.919G>A (p.Val307Met)not specified [RCV004110810]uncertain significance9121760188121760188Humanname
155966664CV2280093single nucleotide variantNM_001395010.1(DAB2IP):c.503A>G (p.Asp168Gly)not specified [RCV004146748]uncertain significance9121757153121757153Humanname
155992614CV2281229single nucleotide variantNM_001395010.1(DAB2IP):c.341C>T (p.Ala114Val)not specified [RCV004147478]uncertain significance9121699437121699437Humanname
156260190CV2322282single nucleotide variantNM_001395010.1(DAB2IP):c.569G>A (p.Arg190Gln)not specified [RCV004176049]uncertain significance9121758950121758950Humanname
156354036CV2324193single nucleotide variantNM_001395010.1(DAB2IP):c.734C>G (p.Thr245Ser)not specified [RCV004176935]uncertain significance9121760003121760003Humanname
156180692CV2356108single nucleotide variantNM_001395010.1(DAB2IP):c.997C>T (p.Arg333Cys)not specified [RCV004203519]uncertain significance9121760266121760266Humanname
329395593CV2454381single nucleotide variantNM_001395010.1(DAB2IP):c.524C>T (p.Thr175Met)not specified [RCV004267897]uncertain significance9121758905121758905Humanname
329388186CV2468736single nucleotide variantNM_001395010.1(DAB2IP):c.731G>A (p.Arg244His)not specified [RCV004280060]uncertain significance9121760000121760000Humanname
401780796CV2685724single nucleotide variantNM_001395010.1(DAB2IP):c.829C>T (p.Arg277Trp)not specified [RCV004296770]uncertain significance9121760098121760098Humanname
401777685CV2718299single nucleotide variantNM_001395010.1(DAB2IP):c.806G>A (p.Arg269His)not specified [RCV004318139]uncertain significance9121760075121760075Humanname
401876904CV2764208single nucleotide variantNM_001395010.1(DAB2IP):c.403G>A (p.Glu135Lys)not specified [RCV004336750]uncertain significance9121757053121757053Humanname
405679109CV3236600single nucleotide variantNM_001395010.1(DAB2IP):c.427G>T (p.Ala143Ser)not specified [RCV004370751]uncertain significance9121757077121757077Humanname
405679115CV3236601single nucleotide variantNM_001395010.1(DAB2IP):c.428C>T (p.Ala143Val)not specified [RCV004370752]uncertain significance9121757078121757078Humanname
405679120CV3236602single nucleotide variantNM_001395010.1(DAB2IP):c.517G>A (p.Val173Met)not specified [RCV004370753]uncertain significance9121758898121758898Humanname
405679437CV3236603single nucleotide variantNM_001395010.1(DAB2IP):c.608C>T (p.Pro203Leu)not specified [RCV004370754]uncertain significance9121758989121758989Humanname
405679434CV3236604single nucleotide variantNM_001395010.1(DAB2IP):c.926A>G (p.Lys309Arg)not specified [RCV004370755]uncertain significance9121760195121760195Humanname
405679428CV3236605single nucleotide variantNM_001395010.1(DAB2IP):c.961G>A (p.Gly321Ser)not specified [RCV004370756]uncertain significance9121760230121760230Humanname
407452815CV3420339single nucleotide variantNM_001395010.1(DAB2IP):c.860G>A (p.Arg287His)not specified [RCV004608688]uncertain significance9121760129121760129Humanname
407452818CV3420341single nucleotide variantNM_001395010.1(DAB2IP):c.575A>G (p.Lys192Arg)not specified [RCV004608690]uncertain significance9121758956121758956Humanname
407452820CV3420342single nucleotide variantNM_001395010.1(DAB2IP):c.628C>T (p.Arg210Cys)not specified [RCV004608691]uncertain significance9121759897121759897Humanname
407452823CV3420343single nucleotide variantNM_001395010.1(DAB2IP):c.338C>T (p.Ala113Val)not specified [RCV004608692]uncertain significance9121699434121699434Humanname
407452832CV3420347single nucleotide variantNM_001395010.1(DAB2IP):c.356A>G (p.Asn119Ser)not specified [RCV004608696]uncertain significance9121699452121699452Humanname
407452835CV3420348single nucleotide variantNM_001395010.1(DAB2IP):c.592C>T (p.Arg198Trp)not specified [RCV004608697]uncertain significance9121758973121758973Humanname
597673826CV3655084single nucleotide variantNM_001395010.1(DAB2IP):c.815C>T (p.Thr272Ile)not specified [RCV004913548]uncertain significance9121760084121760084Humanname
597675575CV3655087single nucleotide variantNM_001395010.1(DAB2IP):c.700G>A (p.Glu234Lys)not specified [RCV004913551]uncertain significance9121759969121759969Humanname
598250883CV3952738single nucleotide variantNM_001395010.1(DAB2IP):c.964A>G (p.Lys322Glu)not specified [RCV005322956]uncertain significance9121760233121760233Humanname
598250905CV3952742single nucleotide variantNM_001395010.1(DAB2IP):c.822C>G (p.His274Gln)not specified [RCV005322960]uncertain significance9121760091121760091Humanname
598250949CV3952750single nucleotide variantNM_001395010.1(DAB2IP):c.707G>T (p.Cys236Phe)not specified [RCV005322968]uncertain significance9121759976121759976Humanname
15161845CV736862single nucleotide variantNM_001395010.1(DAB2IP):c.3009C>T (p.Ala1003=)not provided [RCV000903430]likely benign9121774301121774301Humanname
151350193CV1325543single nucleotide variantNM_001395010.1(DAB2IP):c.1640C>T (p.Thr547Ile)not provided [RCV001814830]uncertain significance9121766673121766673Humanname
156380642CV2208325single nucleotide variantNM_001395010.1(DAB2IP):c.2350G>A (p.Gly784Arg)not specified [RCV004088760]uncertain significance9121772878121772878Humanname
156213336CV2257364single nucleotide variantNM_001395010.1(DAB2IP):c.2794C>T (p.Arg932Cys)not specified [RCV004125454]uncertain significance9121773322121773322Humanname
156021370CV2264450single nucleotide variantNM_001395010.1(DAB2IP):c.2880G>C (p.Trp960Cys)not specified [RCV004138347]uncertain significance9121773408121773408Humanname
155946460CV2266170single nucleotide variantNM_001395010.1(DAB2IP):c.2878T>C (p.Trp960Arg)not specified [RCV004128750]uncertain significance9121773406121773406Humanname
156126641CV2283730single nucleotide variantNM_001395010.1(DAB2IP):c.2319T>A (p.Asp773Glu)not specified [RCV004142253]uncertain significance9121772847121772847Humanname
156250283CV2286696single nucleotide variantNM_001395010.1(DAB2IP):c.2861C>T (p.Ala954Val)not specified [RCV004142523]uncertain significance9121773389121773389Humanname
155931567CV2293596single nucleotide variantNM_001395010.1(DAB2IP):c.2672G>A (p.Arg891Gln)not specified [RCV004153115]uncertain significance9121773200121773200Humanname
156353005CV2324087single nucleotide variantNM_001395010.1(DAB2IP):c.1190T>C (p.Met397Thr)not specified [RCV004178378]uncertain significance9121763524121763524Humanname
155983735CV2344340single nucleotide variantNM_001395010.1(DAB2IP):c.2012C>T (p.Pro671Leu)not specified [RCV004195097]uncertain significance9121770658121770658Humanname
156345196CV2346415single nucleotide variantNM_001395010.1(DAB2IP):c.1393C>T (p.Pro465Ser)not specified [RCV004203893]uncertain significance9121763812121763812Humanname
156347200CV2349536single nucleotide variantNM_001395010.1(DAB2IP):c.2302G>A (p.Asp768Asn)not specified [RCV004201923]uncertain significance9121772830121772830Humanname
156076608CV2350968single nucleotide variantNM_001395010.1(DAB2IP):c.1433C>T (p.Ala478Val)not specified [RCV004211796]uncertain significance9121763852121763852Humanname
156345587CV2356286single nucleotide variantNM_001395010.1(DAB2IP):c.2180C>T (p.Ser727Leu)not specified [RCV004206096]uncertain significance9121772708121772708Humanname
156158543CV2363937single nucleotide variantNM_001395010.1(DAB2IP):c.2447C>T (p.Ala816Val)not specified [RCV004218907]uncertain significance9121772975121772975Humanname
156074508CV2365534single nucleotide variantNM_001395010.1(DAB2IP):c.1907T>C (p.Val636Ala)not specified [RCV004211650]uncertain significance9121770553121770553Humanname
156347029CV2375358single nucleotide variantNM_001395010.1(DAB2IP):c.2294C>T (p.Ala765Val)not specified [RCV004232759]uncertain significance9121772822121772822Humanname
156061024CV2380191single nucleotide variantNM_001395010.1(DAB2IP):c.2519C>T (p.Pro840Leu)not specified [RCV004224558]uncertain significance9121773047121773047Humanname
155955267CV2389913single nucleotide variantNM_001395010.1(DAB2IP):c.1975G>A (p.Gly659Arg)not specified [RCV004236122]uncertain significance9121770621121770621Humanname
155999874CV2396491single nucleotide variantNM_001395010.1(DAB2IP):c.1544G>A (p.Arg515Gln)not specified [RCV004242201]uncertain significance9121766577121766577Humanname
156193620CV2398054single nucleotide variantNM_001395010.1(DAB2IP):c.1218C>A (p.Asp406Glu)not specified [RCV004241644]uncertain significance9121763552121763552Humanname
329373638CV2452577single nucleotide variantNM_001395010.1(DAB2IP):c.1762A>C (p.Met588Leu)not specified [RCV004275161]uncertain significance9121768496121768496Humanname
329370486CV2461736single nucleotide variantNM_001395010.1(DAB2IP):c.1168A>C (p.Lys390Gln)not specified [RCV004269885]uncertain significance9121760437121760437Humanname
401718940CV2679357single nucleotide variantNM_001395010.1(DAB2IP):c.2264G>A (p.Arg755His)not specified [RCV004285892]uncertain significance9121772792121772792Humanname
401768865CV2686405single nucleotide variantNM_001395010.1(DAB2IP):c.1667A>G (p.Lys556Arg)not specified [RCV004297475]uncertain significance9121766700121766700Humanname
401717648CV2703946single nucleotide variantNM_001395010.1(DAB2IP):c.1272G>T (p.Glu424Asp)not specified [RCV004308843]uncertain significance9121763606121763606Humanname
401758185CV2704217single nucleotide variantNM_001395010.1(DAB2IP):c.2507C>T (p.Ala836Val)not specified [RCV004311220]uncertain significance9121773035121773035Humanname
401760681CV2715899single nucleotide variantNM_001395010.1(DAB2IP):c.1216G>A (p.Asp406Asn)not specified [RCV004329007]uncertain significance9121763550121763550Humanname
401856984CV2759912single nucleotide variantNM_001395010.1(DAB2IP):c.1529C>T (p.Pro510Leu)not specified [RCV004345338]uncertain significance9121766562121766562Humanname
401884178CV2762767single nucleotide variantNM_001395010.1(DAB2IP):c.2291C>T (p.Pro764Leu)not specified [RCV004340322]uncertain significance9121772819121772819Humanname
401884037CV2765001single nucleotide variantNM_001395010.1(DAB2IP):c.1813G>T (p.Ala605Ser)not specified [RCV004337125]uncertain significance9121768547121768547Humanname
401863585CV2776994single nucleotide variantNM_001395010.1(DAB2IP):c.1463T>G (p.Val488Gly)not specified [RCV004351800]uncertain significance9121766496121766496Humanname
405679054CV3236589single nucleotide variantNM_001395010.1(DAB2IP):c.1882G>A (p.Val628Ile)not specified [RCV004370740]likely benign9121768616121768616Humanname
405679059CV3236590single nucleotide variantNM_001395010.1(DAB2IP):c.2167C>T (p.Pro723Ser)not specified [RCV004370741]uncertain significance9121772695121772695Humanname
405679064CV3236591single nucleotide variantNM_001395010.1(DAB2IP):c.2232G>C (p.Lys744Asn)not specified [RCV004370742]uncertain significance9121772760121772760Humanname
405679071CV3236592single nucleotide variantNM_001395010.1(DAB2IP):c.2651G>A (p.Arg884Gln)not specified [RCV004370743]uncertain significance9121773179121773179Humanname
405679076CV3236593single nucleotide variantNM_001395010.1(DAB2IP):c.2798G>A (p.Gly933Asp)not specified [RCV004370744]uncertain significance9121773326121773326Humanname
405679081CV3236594single nucleotide variantNM_001395010.1(DAB2IP):c.2848A>G (p.Ser950Gly)not specified [RCV004370745]uncertain significance9121773376121773376Humanname
405679086CV3236595single nucleotide variantNM_001395010.1(DAB2IP):c.2881G>A (p.Val961Met)not specified [RCV004370746]uncertain significance9121773409121773409Humanname
405679091CV3236596single nucleotide variantNM_001395010.1(DAB2IP):c.2951G>A (p.Arg984Gln)not specified [RCV004370747]uncertain significance9121773479121773479Humanname
405679424CV3236606single nucleotide variantNM_001395010.1(DAB2IP):c.1079G>C (p.Cys360Ser)not specified [RCV004370757]uncertain significance9121760348121760348Humanname
407452813CV3420338single nucleotide variantNM_001395010.1(DAB2IP):c.2362C>T (p.Arg788Trp)not specified [RCV004608687]uncertain significance9121772890121772890Humanname
407452817CV3420340single nucleotide variantNM_001395010.1(DAB2IP):c.2812A>G (p.Asn938Asp)not specified [RCV004608689]uncertain significance9121773340121773340Humanname
407452830CV3420346single nucleotide variantNM_001395010.1(DAB2IP):c.2244G>A (p.Met748Ile)not specified [RCV004608695]uncertain significance9121772772121772772Humanname
407452837CV3420349single nucleotide variantNM_001395010.1(DAB2IP):c.2825C>T (p.Thr942Ile)not specified [RCV004608698]uncertain significance9121773353121773353Humanname
407452838CV3420350single nucleotide variantNM_001395010.1(DAB2IP):c.2174G>A (p.Arg725His)not specified [RCV004608699]uncertain significance9121772702121772702Humanname
407452842CV3420352single nucleotide variantNM_001395010.1(DAB2IP):c.2147C>T (p.Ser716Phe)not specified [RCV004608701]uncertain significance9121772675121772675Humanname
597673746CV3655074single nucleotide variantNM_001395010.1(DAB2IP):c.2797G>A (p.Gly933Ser)not specified [RCV004913538]uncertain significance9121773325121773325Humanname
597673755CV3655075single nucleotide variantNM_001395010.1(DAB2IP):c.2173C>T (p.Arg725Cys)not specified [RCV004913539]uncertain significance9121772701121772701Humanname
597673762CV3655076single nucleotide variantNM_001395010.1(DAB2IP):c.2096G>A (p.Arg699Gln)not specified [RCV004913540]uncertain significance9121772624121772624Humanname
597673770CV3655077single nucleotide variantNM_001395010.1(DAB2IP):c.2273A>C (p.Asp758Ala)not specified [RCV004913541]uncertain significance9121772801121772801Humanname
597673777CV3655078single nucleotide variantNM_001395010.1(DAB2IP):c.2152G>A (p.Gly718Arg)not specified [RCV004913542]uncertain significance9121772680121772680Humanname
597673784CV3655079single nucleotide variantNM_001395010.1(DAB2IP):c.2224G>A (p.Gly742Ser)not specified [RCV004913543]uncertain significance9121772752121772752Humanname
597673791CV3655080single nucleotide variantNM_001395010.1(DAB2IP):c.2132T>A (p.Phe711Tyr)not specified [RCV004913544]uncertain significance9121772660121772660Humanname
597673810CV3655082single nucleotide variantNM_001395010.1(DAB2IP):c.2392G>A (p.Ala798Thr)not specified [RCV004913546]uncertain significance9121772920121772920Humanname
597673834CV3655085single nucleotide variantNM_001395010.1(DAB2IP):c.1346A>T (p.Asp449Val)not specified [RCV004913549]uncertain significance9121763765121763765Humanname
597673844CV3655086single nucleotide variantNM_001395010.1(DAB2IP):c.2056G>A (p.Val686Met)not specified [RCV004913550]uncertain significance9121770702121770702Humanname
597675586CV3655088single nucleotide variantNM_001395010.1(DAB2IP):c.2752G>A (p.Asp918Asn)not specified [RCV004913552]uncertain significance9121773280121773280Humanname
597675597CV3655089single nucleotide variantNM_001395010.1(DAB2IP):c.2681T>A (p.Met894Lys)not specified [RCV004913553]uncertain significance9121773209121773209Humanname
597673886CV3655092single nucleotide variantNM_001395010.1(DAB2IP):c.2435C>T (p.Thr812Ile)not specified [RCV004913555]uncertain significance9121772963121772963Humanname
597673896CV3655093single nucleotide variantNM_001395010.1(DAB2IP):c.1517G>C (p.Ser506Thr)not specified [RCV004913556]uncertain significance9121766550121766550Humanname
598250865CV3952735single nucleotide variantNM_001395010.1(DAB2IP):c.2801G>A (p.Arg934Gln)not specified [RCV005322953]uncertain significance9121773329121773329Humanname
598250871CV3952736single nucleotide variantNM_001395010.1(DAB2IP):c.2396C>T (p.Thr799Met)not specified [RCV005322954]uncertain significance9121772924121772924Humanname
598250915CV3952744single nucleotide variantNM_001395010.1(DAB2IP):c.1309G>A (p.Ala437Thr)not specified [RCV005322962]uncertain significance9121763643121763643Humanname
598250927CV3952746single nucleotide variantNM_001395010.1(DAB2IP):c.2407G>T (p.Ala803Ser)not specified [RCV005322964]uncertain significance9121772935121772935Humanname
598250931CV3952747single nucleotide variantNM_001395010.1(DAB2IP):c.2435C>A (p.Thr812Asn)not specified [RCV005322965]uncertain significance9121772963121772963Humanname
598250937CV3952748single nucleotide variantNM_001395010.1(DAB2IP):c.2114C>T (p.Pro705Leu)not specified [RCV005322966]uncertain significance9121772642121772642Humanname
598250944CV3952749single nucleotide variantNM_001395010.1(DAB2IP):c.2602G>T (p.Ala868Ser)not specified [RCV005322967]uncertain significance9121773130121773130Humanname
13795195CV535390single nucleotide variantNM_001395010.1(DAB2IP):c.2759C>T (p.Pro920Leu)Keratoconus [RCV000678671]uncertain significance9121773287121773287Human2name
15116018CV711745single nucleotide variantNM_001395010.1(DAB2IP):c.2446G>A (p.Ala816Thr)not provided [RCV000961961]benign9121772974121772974Humanname
15185624CV723312single nucleotide variantNM_001395010.1(DAB2IP):c.1379C>T (p.Ser460Leu)not provided [RCV000886747]benign9121763798121763798Humanname
15172659CV723313single nucleotide variantNM_001395010.1(DAB2IP):c.2897G>A (p.Arg966His)not provided [RCV000883884]benign9121773425121773425Humanname
156386850CV2364865single nucleotide variantNM_001395010.1(DAB2IP):c.3071C>G (p.Pro1024Arg)not specified [RCV004219725]uncertain significance9121774363121774363Humanname
156257039CV2397835single nucleotide variantNM_001395010.1(DAB2IP):c.3419C>T (p.Ser1140Leu)not specified [RCV004603423]uncertain significance9121782347121782347Humanname
401748855CV2692818single nucleotide variantNM_001395010.1(DAB2IP):c.3073C>T (p.His1025Tyr)not specified [RCV004306360]uncertain significance9121774365121774365Humanname
401864755CV2791346single nucleotide variantNM_001395010.1(DAB2IP):c.3061C>T (p.Pro1021Ser)not specified [RCV004358755]uncertain significance9121774353121774353Humanname
405679096CV3236597single nucleotide variantNM_001395010.1(DAB2IP):c.3067C>G (p.Pro1023Ala)not specified [RCV004370748]uncertain significance9121774359121774359Humanname
405679099CV3236598single nucleotide variantNM_001395010.1(DAB2IP):c.3158C>G (p.Thr1053Ser)not specified [RCV004370749]uncertain significance9121776235121776235Humanname
405679105CV3236599single nucleotide variantNM_001395010.1(DAB2IP):c.3410G>A (p.Arg1137His)not specified [RCV004370750]uncertain significance9121782338121782338Humanname
407452840CV3420351single nucleotide variantNM_001395010.1(DAB2IP):c.3238C>T (p.Arg1080Trp)not specified [RCV004608700]uncertain significance9121776315121776315Humanname
407452846CV3420354single nucleotide variantNM_001395010.1(DAB2IP):c.3190A>G (p.Lys1064Glu)not specified [RCV004608703]uncertain significance9121776267121776267Humanname
597673819CV3655083single nucleotide variantNM_001395010.1(DAB2IP):c.3211C>A (p.Gln1071Lys)not specified [RCV004913547]uncertain significance9121776288121776288Humanname
597673876CV3655091single nucleotide variantNM_001395010.1(DAB2IP):c.3071C>A (p.Pro1024His)not specified [RCV004913554]uncertain significance9121774363121774363Humanname
598250877CV3952737single nucleotide variantNM_001395010.1(DAB2IP):c.3067C>A (p.Pro1023Thr)not specified [RCV005322955]uncertain significance9121774359121774359Humanname
598250888CV3952739single nucleotide variantNM_001395010.1(DAB2IP):c.3367G>T (p.Ala1123Ser)not specified [RCV005322957]uncertain significance9121781516121781516Humanname
598250921CV3952745single nucleotide variantNM_001395010.1(DAB2IP):c.3424G>T (p.Asp1142Tyr)not specified [RCV005322963]uncertain significance9121782352121782352Humanname