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Variants search result for All species
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55 records found for search term Uap1l1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156085074CV2340317single nucleotide variantNM_207309.3(UAP1L1):c.23G>A (p.Arg8His)not specified [RCV004195006]uncertain significance9137077555137077555Humanname
156277986CV2330883single nucleotide variantNM_207309.3(UAP1L1):c.67T>G (p.Trp23Gly)not specified [RCV004185937]uncertain significance9137077599137077599Humanname
405814137CV3341139single nucleotide variantNM_207309.3(UAP1L1):c.29G>A (p.Arg10Gln)not specified [RCV004484214]uncertain significance9137077561137077561Humanname
405814147CV3341144single nucleotide variantNM_207309.3(UAP1L1):c.91C>G (p.Arg31Gly)not specified [RCV004484219]uncertain significance9137077623137077623Humanname
156257478CV2219889single nucleotide variantNM_207309.3(UAP1L1):c.158C>G (p.Ala53Gly)not specified [RCV004095519]uncertain significance9137077690137077690Humanname
156192847CV2325776single nucleotide variantNM_207309.3(UAP1L1):c.183C>A (p.His61Gln)not specified [RCV004173667]uncertain significance9137077715137077715Humanname
155971973CV2335738single nucleotide variantNM_207309.3(UAP1L1):c.164A>C (p.Glu55Ala)not specified [RCV004193936]likely benign9137077696137077696Humanname
329402766CV2451343single nucleotide variantNM_207309.3(UAP1L1):c.229G>A (p.Glu77Lys)not specified [RCV004272033]uncertain significance9137077761137077761Humanname
329387350CV2463573single nucleotide variantNM_207309.3(UAP1L1):c.145C>T (p.His49Tyr)not specified [RCV004277379]uncertain significance9137077677137077677Humanname
405814130CV3341135single nucleotide variantNM_207309.3(UAP1L1):c.152G>A (p.Arg51Gln)not specified [RCV004484210]uncertain significance9137077684137077684Humanname
405814132CV3341136single nucleotide variantNM_207309.3(UAP1L1):c.223C>G (p.Pro75Ala)not specified [RCV004484211]uncertain significance9137077755137077755Humanname
405814134CV3341137single nucleotide variantNM_207309.3(UAP1L1):c.227C>G (p.Pro76Arg)not specified [RCV004484212]uncertain significance9137077759137077759Humanname
405814135CV3341138single nucleotide variantNM_207309.3(UAP1L1):c.295C>T (p.Arg99Cys)not specified [RCV004484213]uncertain significance9137078055137078055Humanname
597803009CV3625650single nucleotide variantNM_207309.3(UAP1L1):c.1365C>T (p.Ser455=)not specified [RCV004881530]likely benign9137081998137081998Humanname
597803023CV3625658single nucleotide variantNM_207309.3(UAP1L1):c.125A>G (p.Glu42Gly)not specified [RCV004881537]uncertain significance9137077657137077657Humanname
598232564CV3932563single nucleotide variantNM_207309.3(UAP1L1):c.295C>G (p.Arg99Gly)not specified [RCV005295428]uncertain significance9137078055137078055Humanname
156385572CV2227967single nucleotide variantNM_207309.3(UAP1L1):c.766G>A (p.Asp256Asn)not specified [RCV004096215]uncertain significance9137079071137079071Humanname
156241510CV2265755single nucleotide variantNM_207309.3(UAP1L1):c.356T>A (p.Leu119Gln)not specified [RCV004124463]uncertain significance9137078116137078116Humanname
156368608CV2267042single nucleotide variantNM_207309.3(UAP1L1):c.558C>A (p.Phe186Leu)not specified [RCV004131679]uncertain significance9137078565137078565Humanname
156257957CV2322105single nucleotide variantNM_207309.3(UAP1L1):c.526C>G (p.Pro176Ala)not specified [RCV004173847]uncertain significance9137078533137078533Humanname
155923550CV2351761single nucleotide variantNM_207309.3(UAP1L1):c.439C>T (p.Arg147Trp)not specified [RCV004197919]uncertain significance9137078199137078199Humanname
329357265CV2431308single nucleotide variantNM_207309.3(UAP1L1):c.793C>T (p.Pro265Ser)not specified [RCV004252431]uncertain significance9137079098137079098Humanname
401869061CV2766862single nucleotide variantNM_207309.3(UAP1L1):c.625G>A (p.Gly209Ser)not specified [RCV004349613]uncertain significance9137078632137078632Humanname
401930840CV2823670single nucleotide variantNM_207309.3(UAP1L1):c.460G>A (p.Gly154Ser)not provided [RCV003440807]|not specified [RCV004364631]likely benign|uncertain significance9137078220137078220Humanname
405814139CV3341140single nucleotide variantNM_207309.3(UAP1L1):c.454C>G (p.Leu152Val)not specified [RCV004484215]uncertain significance9137078214137078214Humanname
405814141CV3341141single nucleotide variantNM_207309.3(UAP1L1):c.721G>A (p.Asp241Asn)not specified [RCV004484216]uncertain significance9137079026137079026Humanname
405814145CV3341143single nucleotide variantNM_207309.3(UAP1L1):c.832T>C (p.Cys278Arg)not specified [RCV004484218]uncertain significance9137079137137079137Humanname
407522500CV3490953single nucleotide variantNM_207309.3(UAP1L1):c.677A>G (p.Asn226Ser)not specified [RCV004677709]uncertain significance9137078982137078982Humanname
597803011CV3625651single nucleotide variantNM_207309.3(UAP1L1):c.898G>A (p.Gly300Ser)not specified [RCV004881531]uncertain significance9137079310137079310Humanname
597803015CV3625653single nucleotide variantNM_207309.3(UAP1L1):c.332T>G (p.Leu111Arg)not specified [RCV004881533]uncertain significance9137078092137078092Humanname
597803017CV3625654single nucleotide variantNM_207309.3(UAP1L1):c.323T>C (p.Val108Ala)not specified [RCV004881534]uncertain significance9137078083137078083Humanname
597803019CV3625655single nucleotide variantNM_207309.3(UAP1L1):c.733C>G (p.Arg245Gly)not specified [RCV004881535]uncertain significance9137079038137079038Humanname
597803021CV3625656single nucleotide variantNM_207309.3(UAP1L1):c.375G>C (p.Lys125Asn)not specified [RCV004881536]uncertain significance9137078135137078135Humanname
598232549CV3932561single nucleotide variantNM_207309.3(UAP1L1):c.863C>T (p.Pro288Leu)not specified [RCV005295426]uncertain significance9137079275137079275Humanname
598232557CV3932562single nucleotide variantNM_207309.3(UAP1L1):c.341G>A (p.Gly114Glu)not specified [RCV005295427]uncertain significance9137078101137078101Humanname
156038892CV2215054single nucleotide variantNM_207309.3(UAP1L1):c.1117C>T (p.Pro373Ser)not specified [RCV004084823]uncertain significance9137080081137080081Humanname
156168867CV2337323single nucleotide variantNM_207309.3(UAP1L1):c.1234G>A (p.Ala412Thr)not specified [RCV004187776]uncertain significance9137080744137080744Humanname
156383259CV2361472single nucleotide variantNM_207309.3(UAP1L1):c.1321C>T (p.Arg441Cys)not specified [RCV004221112]uncertain significance9137080831137080831Humanname
156268200CV2371963single nucleotide variantNM_207309.3(UAP1L1):c.1457G>A (p.Arg486Gln)not specified [RCV004221640]uncertain significance9137082662137082662Humanname
155993762CV2377299single nucleotide variantNM_207309.3(UAP1L1):c.1315G>A (p.Gly439Arg)not specified [RCV004225483]uncertain significance9137080825137080825Humanname
155929099CV2389058single nucleotide variantNM_207309.3(UAP1L1):c.1085C>T (p.Pro362Leu)not specified [RCV004235396]uncertain significance9137080049137080049Humanname
401771401CV2675586single nucleotide variantNM_207309.3(UAP1L1):c.1114A>G (p.Lys372Glu)not specified [RCV004297247]uncertain significance9137080078137080078Humanname
401764127CV2700460single nucleotide variantNM_207309.3(UAP1L1):c.1309C>T (p.Arg437Trp)not specified [RCV004311098]uncertain significance9137080819137080819Humanname
401722112CV2706378single nucleotide variantNM_207309.3(UAP1L1):c.1039G>A (p.Glu347Lys)not specified [RCV004317220]uncertain significance9137080003137080003Humanname
401733167CV2712996single nucleotide variantNM_207309.3(UAP1L1):c.1066G>A (p.Val356Met)not specified [RCV004314702]uncertain significance9137080030137080030Humanname
401871603CV2783552single nucleotide variantNM_207309.3(UAP1L1):c.1262G>A (p.Arg421His)not specified [RCV004365881]uncertain significance9137080772137080772Humanname
405814126CV3341133single nucleotide variantNM_207309.3(UAP1L1):c.1199T>C (p.Val400Ala)not specified [RCV004484208]uncertain significance9137080709137080709Humanname
405814128CV3341134single nucleotide variantNM_207309.3(UAP1L1):c.1453G>A (p.Gly485Ser)not specified [RCV004484209]uncertain significance9137082658137082658Humanname
407522503CV3490954single nucleotide variantNM_207309.3(UAP1L1):c.1127C>G (p.Pro376Arg)not specified [RCV004677710]uncertain significance9137080091137080091Humanname
597803005CV3625648single nucleotide variantNM_207309.3(UAP1L1):c.1193T>C (p.Leu398Ser)not specified [RCV004881528]uncertain significance9137080703137080703Humanname
597803007CV3625649single nucleotide variantNM_207309.3(UAP1L1):c.1165T>G (p.Phe389Val)not specified [RCV004881529]uncertain significance9137080129137080129Humanname
597803013CV3625652single nucleotide variantNM_207309.3(UAP1L1):c.1384C>T (p.Pro462Ser)not specified [RCV004881532]uncertain significance9137082017137082017Humanname
598264573CV3932560single nucleotide variantNM_207309.3(UAP1L1):c.1205G>A (p.Arg402Gln)not specified [RCV005301568]uncertain significance9137080715137080715Humanname
598264578CV3932564single nucleotide variantNM_207309.3(UAP1L1):c.1090G>A (p.Val364Met)not specified [RCV005301569]uncertain significance9137080054137080054Humanname
598232568CV3932565single nucleotide variantNM_207309.3(UAP1L1):c.1244C>A (p.Ala415Asp)not specified [RCV005295429]uncertain significance9137080754137080754Humanname