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


100 records found for search term C1qtnf1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8636374CV91597single nucleotide variantNM_030968.3(C1QTNF1):c.144C>T (p.Asp48=)Malignant melanoma [RCV000071695]not provided177904411279044112Humanname
156316659CV2193087single nucleotide variantNM_030968.5(C1QTNF1):c.77G>A (p.Arg26His)not specified [RCV004069630]uncertain significance177904404579044045Humanname
156233561CV2197129single nucleotide variantNM_030968.5(C1QTNF1):c.99A>T (p.Glu33Asp)not specified [RCV004071557]uncertain significance177904406779044067Humanname
156167292CV2399019single nucleotide variantNM_030968.5(C1QTNF1):c.32C>T (p.Ala11Val)not specified [RCV004245323]uncertain significance177904400079044000Humanname
329353166CV2471515single nucleotide variantNM_030968.5(C1QTNF1):c.76C>T (p.Arg26Cys)not specified [RCV004280506]uncertain significance177904404479044044Humanname
401742266CV2673741single nucleotide variantNM_030968.5(C1QTNF1):c.56C>T (p.Ala19Val)not specified [RCV004291088]uncertain significance177904402479044024Humanname
15119852CV715767single nucleotide variantNM_030968.5(C1QTNF1):c.435C>T (p.Tyr145=)not provided [RCV000962620]benign177904767779047677Humanname
15167084CV741096single nucleotide variantNM_030968.5(C1QTNF1):c.501C>T (p.Phe167=)not provided [RCV000904579]likely benign177904774379047743Humanname
156330168CV2210565single nucleotide variantNM_030968.5(C1QTNF1):c.134C>T (p.Ser45Leu)not specified [RCV004083722]uncertain significance177904410279044102Humanname
155979081CV2215138single nucleotide variantNM_030968.5(C1QTNF1):c.262G>A (p.Ala88Thr)not specified [RCV004086859]uncertain significance177904666179046661Humanname
156277919CV2227415single nucleotide variantNM_030968.5(C1QTNF1):c.256G>C (p.Ala86Pro)not specified [RCV004092080]uncertain significance177904665579046655Humanname
156387859CV2383412single nucleotide variantNM_030968.5(C1QTNF1):c.151G>A (p.Glu51Lys)not specified [RCV004222434]uncertain significance177904411979044119Humanname
405732510CV3294989single nucleotide variantNM_030968.5(C1QTNF1):c.193G>C (p.Asp65His)not specified [RCV004429534]uncertain significance177904659279046592Humanname
405732518CV3294990single nucleotide variantNM_030968.5(C1QTNF1):c.214C>T (p.Arg72Trp)not specified [RCV004429535]uncertain significance177904661379046613Humanname
597793121CV3643791single nucleotide variantNM_030968.5(C1QTNF1):c.224G>A (p.Arg75His)not specified [RCV004902875]uncertain significance177904662379046623Humanname
597793127CV3643793single nucleotide variantNM_030968.5(C1QTNF1):c.254C>T (p.Pro85Leu)not specified [RCV004902877]uncertain significance177904665379046653Humanname
597793130CV3643794single nucleotide variantNM_030968.5(C1QTNF1):c.125A>T (p.Glu42Val)not specified [RCV004902878]uncertain significance177904409379044093Humanname
598187738CV3950027single nucleotide variantNM_030968.5(C1QTNF1):c.248T>C (p.Met83Thr)not specified [RCV005312077]uncertain significance177904664779046647Humanname
156332120CV2220629single nucleotide variantNM_030968.5(C1QTNF1):c.491C>T (p.Thr164Met)not specified [RCV004097811]uncertain significance177904773379047733Humanname
156201298CV2234350single nucleotide variantNM_030968.5(C1QTNF1):c.520C>G (p.Leu174Val)not specified [RCV004100580]uncertain significance177904776279047762Humanname
155980620CV2263674single nucleotide variantNM_030968.5(C1QTNF1):c.764G>C (p.Arg255Pro)not specified [RCV004135670]uncertain significance177904800679048006Humanname
156396086CV2326087single nucleotide variantNM_030968.5(C1QTNF1):c.374C>T (p.Thr125Ile)not specified [RCV004180374]uncertain significance177904761679047616Humanname
155980233CV2343446single nucleotide variantNM_030968.5(C1QTNF1):c.311G>A (p.Arg104His)not specified [RCV004197520]uncertain significance177904755379047553Humanname
156385272CV2368234single nucleotide variantNM_030968.5(C1QTNF1):c.569C>G (p.Pro190Arg)not specified [RCV004219028]uncertain significance177904781179047811Humanname
156263297CV2391681single nucleotide variantNM_030968.5(C1QTNF1):c.482A>G (p.Tyr161Cys)not specified [RCV004241839]uncertain significance177904772479047724Humanname
329358554CV2454323single nucleotide variantNM_030968.5(C1QTNF1):c.310C>G (p.Arg104Gly)not specified [RCV004265778]uncertain significance177904755279047552Humanname
401747771CV2689006single nucleotide variantNM_030968.5(C1QTNF1):c.427A>G (p.Ser143Gly)not specified [RCV004305787]uncertain significance177904766979047669Humanname
405732526CV3294991single nucleotide variantNM_030968.5(C1QTNF1):c.298G>A (p.Glu100Lys)not specified [RCV004429536]uncertain significance177904754079047540Humanname
597793133CV3643795single nucleotide variantNM_030968.5(C1QTNF1):c.698G>A (p.Ser233Asn)not specified [RCV004902879]uncertain significance177904794079047940Humanname
597793136CV3643796single nucleotide variantNM_030968.5(C1QTNF1):c.491C>G (p.Thr164Arg)not specified [RCV004902880]uncertain significance177904773379047733Humanname
598187732CV3950026single nucleotide variantNM_030968.5(C1QTNF1):c.745C>T (p.Arg249Cys)not specified [RCV005312076]uncertain significance177904798779047987Humanname
598187745CV3950028single nucleotide variantNM_030968.5(C1QTNF1):c.538A>C (p.Met180Leu)not specified [RCV005312078]uncertain significance177904778079047780Humanname
401907852CV2808493indelNM_030968.5(C1QTNF1):c.675_676delinsA (p.Gly226fs)not provided [RCV003422952]uncertain significance177904791779047918Humanname
597793156CV3643803single nucleotide variantNM_001014980.3(C1QTNF12):c.8G>A (p.Arg3His)not specified [RCV004902887]uncertain significance112466831246683Humanname
329370652CV2435581single nucleotide variantNM_001014980.3(C1QTNF12):c.67G>A (p.Val23Ile)not specified [RCV004254835]uncertain significance112466241246624Humanname
401751716CV2706758single nucleotide variantNM_001014980.3(C1QTNF12):c.49C>G (p.Leu17Val)not specified [RCV004319318]uncertain significance112466421246642Humanname
401755297CV2733339single nucleotide variantNM_001014980.3(C1QTNF12):c.55C>G (p.Leu19Val)not specified [RCV004330345]uncertain significance112466361246636Humanname
401876335CV2770523single nucleotide variantNM_001014980.3(C1QTNF12):c.79C>T (p.Arg27Trp)not specified [RCV004347807]uncertain significance112466121246612Humanname
405732702CV3295013single nucleotide variantNM_001014980.3(C1QTNF12):c.59T>C (p.Leu20Pro)not specified [RCV004429558]uncertain significance112466321246632Humanname
597750191CV3643805single nucleotide variantNM_001014980.3(C1QTNF12):c.31G>A (p.Val11Ile)not specified [RCV004892509]uncertain significance112466601246660Humanname
598211474CV3950031single nucleotide variantNM_001014980.3(C1QTNF12):c.71G>T (p.Gly24Val)not specified [RCV005316019]uncertain significance112466201246620Humanname
598211479CV3950032single nucleotide variantNM_001014980.3(C1QTNF12):c.49C>T (p.Leu17Phe)not specified [RCV005316020]uncertain significance112466421246642Humanname
15171447CV706642single nucleotide variantNM_001014980.3(C1QTNF12):c.759G>A (p.Glu253=)not provided [RCV000972202]benign112428861242886Humanname
329368342CV2427985single nucleotide variantNM_001014980.3(C1QTNF12):c.154G>A (p.Glu52Lys)not specified [RCV004254365]uncertain significance112465371246537Humanname
401781116CV2681895single nucleotide variantNM_001014980.3(C1QTNF12):c.241C>T (p.Arg81Trp)not specified [RCV004296887]uncertain significance112444341244434Humanname
401770988CV2700798single nucleotide variantNM_001014980.3(C1QTNF12):c.119A>T (p.Asp40Val)not specified [RCV004307077]uncertain significance112465721246572Humanname
405732534CV3294992single nucleotide variantNM_001014980.3(C1QTNF12):c.151C>T (p.Arg51Cys)not specified [RCV004429537]uncertain significance112465401246540Humanname
405732541CV3294993single nucleotide variantNM_001014980.3(C1QTNF12):c.160C>G (p.Leu54Val)not specified [RCV004429538]uncertain significance112465311246531Humanname
405732549CV3294994single nucleotide variantNM_001014980.3(C1QTNF12):c.215A>G (p.His72Arg)not specified [RCV004429539]uncertain significance112444601244460Humanname
405732559CV3294995single nucleotide variantNM_001014980.3(C1QTNF12):c.217A>G (p.Met73Val)not specified [RCV004429540]uncertain significance112444581244458Humanname
405732568CV3294996single nucleotide variantNM_001014980.3(C1QTNF12):c.233T>C (p.Phe78Ser)not specified [RCV004429541]uncertain significance112444421244442Humanname
405732574CV3294997single nucleotide variantNM_001014980.3(C1QTNF12):c.238C>T (p.Arg80Trp)not specified [RCV004429542]uncertain significance112444371244437Humanname
405732583CV3294998single nucleotide variantNM_001014980.3(C1QTNF12):c.239G>A (p.Arg80Gln)not specified [RCV004429543]uncertain significance112444361244436Humanname
405732588CV3294999single nucleotide variantNM_001014980.3(C1QTNF12):c.256G>A (p.Ala86Thr)not specified [RCV004429544]uncertain significance112444191244419Humanname
405732599CV3295000single nucleotide variantNM_001014980.3(C1QTNF12):c.283G>C (p.Asp95His)not specified [RCV004429545]uncertain significance112443921244392Humanname
407490313CV3418109single nucleotide variantNM_001014980.3(C1QTNF12):c.268C>T (p.Arg90Trp)not specified [RCV004604407]uncertain significance112444071244407Humanname
407490317CV3418110single nucleotide variantNM_001014980.3(C1QTNF12):c.121C>A (p.Pro41Thr)not specified [RCV004604408]uncertain significance112465701246570Humanname
597793139CV3643797single nucleotide variantNM_001014980.3(C1QTNF12):c.238C>G (p.Arg80Gly)not specified [RCV004902881]uncertain significance112444371244437Humanname
597793142CV3643798single nucleotide variantNM_001014980.3(C1QTNF12):c.211G>A (p.Ala71Thr)not specified [RCV004902882]uncertain significance112444641244464Humanname
597793159CV3643804single nucleotide variantNM_001014980.3(C1QTNF12):c.253G>A (p.Gly85Ser)not specified [RCV004902888]likely benign112444221244422Humanname
597793162CV3643806single nucleotide variantNM_001014980.3(C1QTNF12):c.253G>T (p.Gly85Cys)not specified [RCV004902889]uncertain significance112444221244422Humanname
598187782CV3950037single nucleotide variantNM_001014980.3(C1QTNF12):c.142G>C (p.Ala48Pro)not specified [RCV005312084]uncertain significance112465491246549Humanname
329399754CV2444138single nucleotide variantNM_001014980.3(C1QTNF12):c.779C>T (p.Thr260Met)not specified [RCV004260879]uncertain significance112428661242866Humanname
401880010CV2769864single nucleotide variantNM_001014980.3(C1QTNF12):c.430G>C (p.Gly144Arg)not specified [RCV004353716]uncertain significance112440551244055Humanname
405732606CV3295001single nucleotide variantNM_001014980.3(C1QTNF12):c.313C>T (p.Pro105Ser)not specified [RCV004429546]uncertain significance112442571244257Humanname
405732615CV3295002single nucleotide variantNM_001014980.3(C1QTNF12):c.367G>A (p.Glu123Lys)not specified [RCV004429547]uncertain significance112442031244203Humanname
405732620CV3295003single nucleotide variantNM_001014980.3(C1QTNF12):c.409C>G (p.Leu137Val)not specified [RCV004429548]uncertain significance112440761244076Humanname
405732629CV3295004single nucleotide variantNM_001014980.3(C1QTNF12):c.416C>T (p.Pro139Leu)not specified [RCV004429549]uncertain significance112440691244069Humanname
405732639CV3295005single nucleotide variantNM_001014980.3(C1QTNF12):c.434C>T (p.Ala145Val)not specified [RCV004429550]likely benign112440511244051Humanname
405732646CV3295006single nucleotide variantNM_001014980.3(C1QTNF12):c.442C>T (p.Arg148Trp)not specified [RCV004429551]uncertain significance112440431244043Humanname
405732654CV3295007single nucleotide variantNM_001014980.3(C1QTNF12):c.443G>A (p.Arg148Gln)not specified [RCV004429552]uncertain significance112440421244042Humanname
405732662CV3295008single nucleotide variantNM_001014980.3(C1QTNF12):c.469C>T (p.Arg157Trp)not specified [RCV004429553]uncertain significance112440161244016Humanname
405732670CV3295009single nucleotide variantNM_001014980.3(C1QTNF12):c.497A>G (p.Lys166Arg)not specified [RCV004429554]uncertain significance112439881243988Humanname
405732678CV3295010single nucleotide variantNM_001014980.3(C1QTNF12):c.500G>A (p.Arg167Gln)not specified [RCV004429555]uncertain significance112439851243985Humanname
405732687CV3295011single nucleotide variantNM_001014980.3(C1QTNF12):c.565G>A (p.Gly189Ser)not specified [RCV004429556]uncertain significance112435191243519Humanname
405732696CV3295012single nucleotide variantNM_001014980.3(C1QTNF12):c.581C>T (p.Ser194Leu)not specified [RCV004429557]uncertain significance112435031243503Humanname
405732713CV3295014single nucleotide variantNM_001014980.3(C1QTNF12):c.601G>A (p.Val201Met)not specified [RCV004429559]uncertain significance112434831243483Humanname
405732722CV3295015single nucleotide variantNM_001014980.3(C1QTNF12):c.637G>A (p.Val213Met)not specified [RCV004429560]uncertain significance112434471243447Humanname
405732730CV3295016single nucleotide variantNM_001014980.3(C1QTNF12):c.641A>C (p.Asp214Ala)not specified [RCV004429561]uncertain significance112431521243152Humanname
405732738CV3295017single nucleotide variantNM_001014980.3(C1QTNF12):c.674G>A (p.Arg225Gln)not specified [RCV004429562]uncertain significance112431191243119Humanname
405732745CV3295018single nucleotide variantNM_001014980.3(C1QTNF12):c.827C>A (p.Ser276Tyr)not specified [RCV004429563]uncertain significance112426301242630Humanname
405732751CV3295019single nucleotide variantNM_001014980.3(C1QTNF12):c.841A>G (p.Asn281Asp)not specified [RCV004429564]uncertain significance112426161242616Humanname
405732757CV3295020single nucleotide variantNM_001014980.3(C1QTNF12):c.850G>A (p.Gly284Arg)not specified [RCV004429565]uncertain significance112426071242607Humanname
405732766CV3295021single nucleotide variantNM_001014980.3(C1QTNF12):c.889G>A (p.Gly297Arg)not specified [RCV004429566]uncertain significance112425681242568Humanname
405732771CV3295022single nucleotide variantNM_001014980.3(C1QTNF12):c.901G>A (p.Gly301Ser)not specified [RCV004429567]uncertain significance112425561242556Humanname
407490320CV3418111single nucleotide variantNM_001014980.3(C1QTNF12):c.586C>G (p.Arg196Gly)not specified [RCV004604409]uncertain significance112434981243498Humanname
597793145CV3643799single nucleotide variantNM_001014980.3(C1QTNF12):c.872C>T (p.Ala291Val)not specified [RCV004902883]uncertain significance112425851242585Humanname
597793150CV3643801single nucleotide variantNM_001014980.3(C1QTNF12):c.647G>T (p.Ser216Ile)not specified [RCV004902885]uncertain significance112431461243146Humanname
597793153CV3643802single nucleotide variantNM_001014980.3(C1QTNF12):c.659G>T (p.Gly220Val)not specified [RCV004902886]uncertain significance112431341243134Humanname
597793165CV3643807single nucleotide variantNM_001014980.3(C1QTNF12):c.709G>A (p.Glu237Lys)not specified [RCV004902890]uncertain significance112430841243084Humanname
597793171CV3643809single nucleotide variantNM_001014980.3(C1QTNF12):c.863C>T (p.Thr288Ile)not specified [RCV004902892]uncertain significance112425941242594Humanname
598187751CV3950029single nucleotide variantNM_001014980.3(C1QTNF12):c.761G>A (p.Ser254Asn)not specified [RCV005312079]uncertain significance112428841242884Humanname
598187757CV3950030single nucleotide variantNM_001014980.3(C1QTNF12):c.668G>A (p.Arg223Gln)not specified [RCV005312080]uncertain significance112431251243125Humanname
598187764CV3950033single nucleotide variantNM_001014980.3(C1QTNF12):c.392G>A (p.Arg131His)not specified [RCV005312081]likely benign112440931244093Humanname
598211486CV3950034single nucleotide variantNM_001014980.3(C1QTNF12):c.872C>A (p.Ala291Glu)not specified [RCV005316021]uncertain significance112425851242585Humanname
598187769CV3950035single nucleotide variantNM_001014980.3(C1QTNF12):c.314C>G (p.Pro105Arg)not specified [RCV005312082]uncertain significance112442561244256Humanname
598187776CV3950036single nucleotide variantNM_001014980.3(C1QTNF12):c.316G>A (p.Gly106Arg)not specified [RCV005312083]uncertain significance112442541244254Humanname
598187788CV3950038single nucleotide variantNM_001014980.3(C1QTNF12):c.347C>T (p.Thr116Ile)not specified [RCV005312085]uncertain significance112442231244223Humanname
15182587CV696042single nucleotide variantNM_001014980.3(C1QTNF12):c.781C>G (p.Leu261Val)not provided [RCV000952254]benign112428641242864Humanname
15171440CV706641single nucleotide variantNM_001014980.3(C1QTNF12):c.856G>A (p.Val286Ile)not provided [RCV000972201]benign112426011242601Humanname