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)


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

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405787478CV3264783single nucleotide variantNM_001272013.2(ITPRIP):c.74G>A (p.Arg25Gln)not specified [RCV004398802]uncertain significance10104315978104315978Humanname
405787488CV3264785single nucleotide variantNM_001272013.2(ITPRIP):c.81C>A (p.Asn27Lys)not specified [RCV004398804]uncertain significance10104315971104315971Humanname
598171941CV3969130single nucleotide variantNM_001272013.2(ITPRIP):c.94G>A (p.Glu32Lys)not specified [RCV005370677]uncertain significance10104315958104315958Humanname
156348037CV2312555single nucleotide variantNM_001272013.2(ITPRIP):c.100G>C (p.Glu34Gln)not specified [RCV004169300]uncertain significance10104315952104315952Humanname
156159504CV2322744single nucleotide variantNM_001272013.2(ITPRIP):c.259G>A (p.Asp87Asn)not specified [RCV004182854]uncertain significance10104315793104315793Humanname
155985639CV2344538single nucleotide variantNM_001272013.2(ITPRIP):c.218C>T (p.Ala73Val)not specified [RCV004195272]uncertain significance10104315834104315834Humanname
401907763CV2809600single nucleotide variantNM_001272013.2(ITPRIP):c.1524G>A (p.Leu508=)not provided [RCV003422861]likely benign10104314528104314528Humanname
405787428CV3264772single nucleotide variantNM_001272013.2(ITPRIP):c.101A>G (p.Glu34Gly)not specified [RCV004398791]uncertain significance10104315951104315951Humanname
597776465CV3683897single nucleotide variantNM_001272013.2(ITPRIP):c.193G>A (p.Glu65Lys)not specified [RCV004929612]uncertain significance10104315859104315859Humanname
156368578CV2193725single nucleotide variantNM_001272013.2(ITPRIP):c.422C>T (p.Thr141Met)not specified [RCV004074489]uncertain significance10104315630104315630Humanname
156398619CV2194685single nucleotide variantNM_001272013.2(ITPRIP):c.439G>A (p.Glu147Lys)not specified [RCV004075244]uncertain significance10104315613104315613Humanname
156187281CV2226673single nucleotide variantNM_001272013.2(ITPRIP):c.691C>T (p.Arg231Cys)not specified [RCV004101906]uncertain significance10104315361104315361Humanname
156178315CV2287922single nucleotide variantNM_001272013.2(ITPRIP):c.331C>T (p.Pro111Ser)not specified [RCV004147703]uncertain significance10104315721104315721Humanname
156289936CV2299421single nucleotide variantNM_001272013.2(ITPRIP):c.361G>A (p.Asp121Asn)not specified [RCV004154505]uncertain significance10104315691104315691Humanname
156396448CV2326279single nucleotide variantNM_001272013.2(ITPRIP):c.901A>G (p.Met301Val)not specified [RCV004180526]uncertain significance10104315151104315151Humanname
156177120CV2374497single nucleotide variantNM_001272013.2(ITPRIP):c.692G>A (p.Arg231His)not specified [RCV004232001]uncertain significance10104315360104315360Humanname
329358911CV2425439single nucleotide variantNM_001272013.2(ITPRIP):c.745G>A (p.Asp249Asn)not specified [RCV004251094]uncertain significance10104315307104315307Humanname
329361385CV2436962single nucleotide variantNM_001272013.2(ITPRIP):c.805C>T (p.Leu269Phe)not specified [RCV004260336]uncertain significance10104315247104315247Humanname
329399726CV2444117single nucleotide variantNM_001272013.2(ITPRIP):c.484G>C (p.Glu162Gln)not specified [RCV004260858]uncertain significance10104315568104315568Humanname
401721171CV2673625single nucleotide variantNM_001272013.2(ITPRIP):c.555G>A (p.Met185Ile)not specified [RCV004282360]uncertain significance10104315497104315497Humanname
401726859CV2674576single nucleotide variantNM_001272013.2(ITPRIP):c.868A>C (p.Thr290Pro)not specified [RCV004291451]uncertain significance10104315184104315184Humanname
401742896CV2715345single nucleotide variantNM_001272013.2(ITPRIP):c.344G>A (p.Cys115Tyr)not specified [RCV004324677]uncertain significance10104315708104315708Humanname
401762493CV2723463single nucleotide variantNM_001272013.2(ITPRIP):c.443G>T (p.Arg148Leu)not specified [RCV004323533]uncertain significance10104315609104315609Humanname
401761939CV2726969single nucleotide variantNM_001272013.2(ITPRIP):c.353G>A (p.Gly118Asp)not specified [RCV004325039]uncertain significance10104315699104315699Humanname
401869191CV2766936single nucleotide variantNM_001272013.2(ITPRIP):c.443G>A (p.Arg148His)not specified [RCV004343322]uncertain significance10104315609104315609Humanname
405787469CV3264781single nucleotide variantNM_001272013.2(ITPRIP):c.461C>T (p.Thr154Met)not specified [RCV004398800]uncertain significance10104315591104315591Humanname
405787474CV3264782single nucleotide variantNM_001272013.2(ITPRIP):c.733G>A (p.Val245Met)not specified [RCV004398801]uncertain significance10104315319104315319Humanname
405787483CV3264784single nucleotide variantNM_001272013.2(ITPRIP):c.770G>A (p.Cys257Tyr)not specified [RCV004398803]uncertain significance10104315282104315282Humanname
405787492CV3264786single nucleotide variantNM_001272013.2(ITPRIP):c.830C>G (p.Ala277Gly)not specified [RCV004398805]uncertain significance10104315222104315222Humanname
407459689CV3451917single nucleotide variantNM_001272013.2(ITPRIP):c.755C>A (p.Thr252Lys)not specified [RCV004633654]uncertain significance10104315297104315297Humanname
407459695CV3451918single nucleotide variantNM_001272013.2(ITPRIP):c.428G>A (p.Gly143Asp)not specified [RCV004633655]likely benign10104315624104315624Humanname
597776452CV3683894single nucleotide variantNM_001272013.2(ITPRIP):c.818G>A (p.Arg273Lys)not specified [RCV004929609]likely benign10104315234104315234Humanname
597776460CV3683896single nucleotide variantNM_001272013.2(ITPRIP):c.577G>A (p.Val193Met)not specified [RCV004929611]uncertain significance10104315475104315475Humanname
598171921CV3969126single nucleotide variantNM_001272013.2(ITPRIP):c.457G>T (p.Ala153Ser)not specified [RCV005370673]uncertain significance10104315595104315595Humanname
598171930CV3969128single nucleotide variantNM_001272013.2(ITPRIP):c.830C>T (p.Ala277Val)not specified [RCV005370675]likely benign10104315222104315222Humanname
598171936CV3969129single nucleotide variantNM_001272013.2(ITPRIP):c.412A>G (p.Asn138Asp)not specified [RCV005370676]uncertain significance10104315640104315640Humanname
156398317CV2200658single nucleotide variantNM_001272013.2(ITPRIP):c.1616C>T (p.Pro539Leu)not specified [RCV004081320]uncertain significance10104314436104314436Humanname
155917847CV2236671single nucleotide variantNM_001272013.2(ITPRIP):c.1541G>T (p.Arg514Leu)not specified [RCV004110634]uncertain significance10104314511104314511Humanname
156341128CV2348173single nucleotide variantNM_001272013.2(ITPRIP):c.1444C>T (p.Arg482Cys)not specified [RCV004190817]uncertain significance10104314608104314608Humanname
156070767CV2354226single nucleotide variantNM_001272013.2(ITPRIP):c.1126T>G (p.Ser376Ala)not specified [RCV004206651]uncertain significance10104314926104314926Humanname
156251857CV2394370single nucleotide variantNM_001272013.2(ITPRIP):c.1026G>T (p.Lys342Asn)not specified [RCV004238589]uncertain significance10104315026104315026Humanname
329356752CV2431128single nucleotide variantNM_001272013.2(ITPRIP):c.1540C>T (p.Arg514Cys)not specified [RCV004250484]uncertain significance10104314512104314512Humanname
401745313CV2693229single nucleotide variantNM_001272013.2(ITPRIP):c.1174C>T (p.Leu392Phe)not specified [RCV004295204]uncertain significance10104314878104314878Humanname
401772556CV2719678single nucleotide variantNM_001272013.2(ITPRIP):c.1130G>A (p.Ser377Asn)not specified [RCV004329123]uncertain significance10104314922104314922Humanname
401856806CV2761808single nucleotide variantNM_001272013.2(ITPRIP):c.1181C>T (p.Thr394Met)not specified [RCV004339453]likely benign10104314871104314871Humanname
405787433CV3264773single nucleotide variantNM_001272013.2(ITPRIP):c.1280G>A (p.Gly427Glu)not specified [RCV004398792]uncertain significance10104314772104314772Humanname
405787437CV3264774single nucleotide variantNM_001272013.2(ITPRIP):c.1366G>A (p.Ala456Thr)not specified [RCV004398793]uncertain significance10104314686104314686Humanname
405787442CV3264775single nucleotide variantNM_001272013.2(ITPRIP):c.1373T>G (p.Leu458Arg)not specified [RCV004398794]uncertain significance10104314679104314679Humanname
405787446CV3264776single nucleotide variantNM_001272013.2(ITPRIP):c.1510C>T (p.Arg504Trp)not specified [RCV004398795]uncertain significance10104314542104314542Humanname
405787451CV3264777single nucleotide variantNM_001272013.2(ITPRIP):c.1615C>A (p.Pro539Thr)not specified [RCV004398796]uncertain significance10104314437104314437Humanname
405787456CV3264778single nucleotide variantNM_001272013.2(ITPRIP):c.1624C>A (p.Gln542Lys)not specified [RCV004398797]uncertain significance10104314428104314428Humanname
407459679CV3451914single nucleotide variantNM_001272013.2(ITPRIP):c.1319T>C (p.Leu440Pro)not specified [RCV004633652]uncertain significance10104314733104314733Humanname
407511564CV3451915single nucleotide variantNM_001272013.2(ITPRIP):c.1278C>G (p.Ser426Arg)not specified [RCV004626503]uncertain significance10104314774104314774Humanname
407459699CV3451919single nucleotide variantNM_001272013.2(ITPRIP):c.1072G>C (p.Asp358His)not specified [RCV004633656]uncertain significance10104314980104314980Humanname
597776447CV3683893single nucleotide variantNM_001272013.2(ITPRIP):c.1610A>G (p.His537Arg)not specified [RCV004929608]uncertain significance10104314442104314442Humanname
597776456CV3683895single nucleotide variantNM_001272013.2(ITPRIP):c.1247T>A (p.Leu416His)not specified [RCV004929610]uncertain significance10104314805104314805Humanname
597776475CV3683899single nucleotide variantNM_001272013.2(ITPRIP):c.1059G>T (p.Gln353His)not specified [RCV004929614]uncertain significance10104314993104314993Humanname
597776477CV3683900single nucleotide variantNM_001272013.2(ITPRIP):c.1199C>G (p.Pro400Arg)not specified [RCV004929615]uncertain significance10104314853104314853Humanname
597776481CV3683901single nucleotide variantNM_001272013.2(ITPRIP):c.1105C>A (p.Pro369Thr)not specified [RCV004929616]uncertain significance10104314947104314947Humanname
598211751CV3969131single nucleotide variantNM_001272013.2(ITPRIP):c.1162G>A (p.Glu388Lys)not specified [RCV005358731]uncertain significance10104314890104314890Humanname
598171961CV3969139single nucleotide variantNM_001008949.3(ITPRIPL1):c.62A>G (p.Tyr21Cys)not specified [RCV005370681]uncertain significance29632669396326693Humanname
8627755CV82899single nucleotide variantNM_001034841.3(ITPRIPL2):c.633C>T (p.Leu211=)Malignant melanoma [RCV000062979]not provided161911509419115094Humanname
156154905CV2374970single nucleotide variantNM_001008949.3(ITPRIPL1):c.151G>A (p.Glu51Lys)not specified [RCV004227985]uncertain significance29632678296326782Humanname
329375388CV2431504single nucleotide variantNM_001008949.3(ITPRIPL1):c.125G>A (p.Arg42Gln)not specified [RCV004254665]uncertain significance29632675696326756Humanname
401771614CV2711790single nucleotide variantNM_001008949.3(ITPRIPL1):c.194C>A (p.Ala65Asp)not provided [RCV004696449]|not specified [RCV004309435]uncertain significance29632682596326825Humanname
401771617CV2711791single nucleotide variantNM_001008949.3(ITPRIPL1):c.206G>C (p.Arg69Thr)not provided [RCV004696450]|not specified [RCV004309436]uncertain significance29632683796326837Humanname
401911521CV2807689single nucleotide variantNM_001034841.4(ITPRIPL2):c.1032G>A (p.Glu344=)not provided [RCV003426612]likely benign161911549319115493Humanname
405787521CV3264793single nucleotide variantNM_001008949.3(ITPRIPL1):c.167A>C (p.Glu56Ala)not specified [RCV004398812]uncertain significance29632679896326798Humanname
405787526CV3264794single nucleotide variantNM_001008949.3(ITPRIPL1):c.276G>C (p.Met92Ile)not specified [RCV004398813]uncertain significance29632690796326907Humanname
405787542CV3264798single nucleotide variantNM_001034841.4(ITPRIPL2):c.110G>C (p.Arg37Pro)not specified [RCV004398817]uncertain significance161911457119114571Humanname
405787562CV3264802single nucleotide variantNM_001034841.4(ITPRIPL2):c.146C>T (p.Pro49Leu)not specified [RCV004398821]uncertain significance161911460719114607Humanname
405787567CV3264803single nucleotide variantNM_001034841.4(ITPRIPL2):c.230G>T (p.Gly77Val)not specified [RCV004398822]uncertain significance161911469119114691Humanname
405787573CV3264804single nucleotide variantNM_001034841.4(ITPRIPL2):c.253G>C (p.Ala85Pro)not specified [RCV004398823]uncertain significance161911471419114714Humanname
407459730CV3447978single nucleotide variantNM_001034841.4(ITPRIPL2):c.121G>T (p.Ala41Ser)not specified [RCV004633661]uncertain significance161911458219114582Humanname
407459737CV3447979single nucleotide variantNM_001034841.4(ITPRIPL2):c.139G>A (p.Gly47Ser)not specified [RCV004633662]uncertain significance161911460019114600Humanname
407459719CV3451922single nucleotide variantNM_001034841.4(ITPRIPL2):c.287G>A (p.Gly96Asp)not specified [RCV004633659]uncertain significance161911474819114748Humanname
598258336CV3969132single nucleotide variantNM_001008949.3(ITPRIPL1):c.245G>A (p.Ser82Asn)not specified [RCV005347176]uncertain significance29632687696326876Humanname
156314329CV2196631single nucleotide variantNM_001008949.3(ITPRIPL1):c.782G>A (p.Arg261His)not specified [RCV004073899]uncertain significance29632741396327413Humanname
156181885CV2222240single nucleotide variantNM_001034841.4(ITPRIPL2):c.977C>G (p.Pro326Arg)not specified [RCV004105266]uncertain significance161911543819115438Humanname
156047049CV2244773single nucleotide variantNM_001034841.4(ITPRIPL2):c.757C>A (p.Arg253Ser)not specified [RCV004102757]uncertain significance161911521819115218Humanname
156078202CV2248470single nucleotide variantNM_001034841.4(ITPRIPL2):c.710G>T (p.Cys237Phe)not specified [RCV004119602]uncertain significance161911517119115171Humanname
155976767CV2266336single nucleotide variantNM_001034841.4(ITPRIPL2):c.668G>A (p.Gly223Asp)not specified [RCV004129155]uncertain significance161911512919115129Humanname
156166806CV2279694single nucleotide variantNM_001034841.4(ITPRIPL2):c.767A>G (p.Gln256Arg)not specified [RCV004144315]uncertain significance161911522819115228Humanname
156085645CV2289849single nucleotide variantNM_001008949.3(ITPRIPL1):c.718C>G (p.Pro240Ala)not specified [RCV004150514]uncertain significance29632734996327349Humanname
156187316CV2292455single nucleotide variantNM_001034841.4(ITPRIPL2):c.506G>C (p.Arg169Pro)not specified [RCV004150245]uncertain significance161911496719114967Humanname
156196756CV2293493single nucleotide variantNM_001008949.3(ITPRIPL1):c.387G>C (p.Gln129His)not specified [RCV004153030]uncertain significance29632701896327018Humanname
156078454CV2351116single nucleotide variantNM_001034841.4(ITPRIPL2):c.977C>T (p.Pro326Leu)not specified [RCV004213977]uncertain significance161911543819115438Humanname
155909799CV2360007single nucleotide variantNM_001034841.4(ITPRIPL2):c.856C>T (p.Pro286Ser)not specified [RCV004212845]uncertain significance161911531719115317Humanname
156217793CV2386183single nucleotide variantNM_001034841.4(ITPRIPL2):c.991A>T (p.Ser331Cys)not specified [RCV004229226]uncertain significance161911545219115452Humanname
155961951CV2388149single nucleotide variantNM_001008949.3(ITPRIPL1):c.766C>T (p.Pro256Ser)not specified [RCV004241265]uncertain significance29632739796327397Humanname
329400754CV2438752single nucleotide variantNM_001008949.3(ITPRIPL1):c.826G>A (p.Glu276Lys)not specified [RCV004261898]uncertain significance29632745796327457Humanname
401736416CV2688784single nucleotide variantNM_001034841.4(ITPRIPL2):c.768G>T (p.Gln256His)not specified [RCV004303807]uncertain significance161911522919115229Humanname
401733890CV2697546single nucleotide variantNM_001008949.3(ITPRIPL1):c.743T>C (p.Met248Thr)not specified [RCV004298305]uncertain significance29632737496327374Humanname
401739717CV2704653single nucleotide variantNM_001008949.3(ITPRIPL1):c.968G>A (p.Arg323Gln)not specified [RCV004313683]uncertain significance29632759996327599Humanname
401752102CV2723119single nucleotide variantNM_001008949.3(ITPRIPL1):c.848T>C (p.Leu283Pro)not specified [RCV004329374]uncertain significance29632747996327479Humanname
401856056CV2764303single nucleotide variantNM_001008949.3(ITPRIPL1):c.967C>T (p.Arg323Trp)not specified [RCV004336835]uncertain significance29632759896327598Humanname
401873086CV2776425single nucleotide variantNM_001034841.4(ITPRIPL2):c.638C>G (p.Ala213Gly)not specified [RCV004355547]uncertain significance161911509919115099Humanname
405787531CV3264795single nucleotide variantNM_001008949.3(ITPRIPL1):c.427G>A (p.Glu143Lys)not specified [RCV004398814]uncertain significance29632705896327058Humanname
405787535CV3264796single nucleotide variantNM_001008949.3(ITPRIPL1):c.779G>A (p.Arg260His)not specified [RCV004398815]uncertain significance29632741096327410Humanname
405787538CV3264797single nucleotide variantNM_001008949.3(ITPRIPL1):c.811T>C (p.Cys271Arg)not specified [RCV004398816]uncertain significance29632744296327442Humanname
405787577CV3264805single nucleotide variantNM_001034841.4(ITPRIPL2):c.734A>T (p.His245Leu)not specified [RCV004398824]uncertain significance161911519519115195Humanname
405787583CV3264806single nucleotide variantNM_001034841.4(ITPRIPL2):c.967G>T (p.Ala323Ser)not specified [RCV004398825]uncertain significance161911542819115428Humanname
407459749CV3447981single nucleotide variantNM_001034841.4(ITPRIPL2):c.800G>T (p.Arg267Leu)not specified [RCV004633664]uncertain significance161911526119115261Humanname
407459707CV3451920single nucleotide variantNM_001008949.3(ITPRIPL1):c.484T>G (p.Phe162Val)not specified [RCV004633657]uncertain significance29632711596327115Humanname
407459724CV3451923single nucleotide variantNM_001034841.4(ITPRIPL2):c.746C>T (p.Thr249Ile)not specified [RCV004633660]uncertain significance161911520719115207Humanname
597776489CV3683903single nucleotide variantNM_001008949.3(ITPRIPL1):c.367G>A (p.Val123Ile)not specified [RCV004929618]likely benign29632699896326998Humanname
597776495CV3683904single nucleotide variantNM_001008949.3(ITPRIPL1):c.824G>A (p.Arg275His)not specified [RCV004929619]uncertain significance29632745596327455Humanname
597776499CV3683905single nucleotide variantNM_001008949.3(ITPRIPL1):c.928G>A (p.Gly310Ser)not specified [RCV004929620]uncertain significance29632755996327559Humanname
597776516CV3683909single nucleotide variantNM_001008949.3(ITPRIPL1):c.418A>C (p.Ser140Arg)not specified [RCV004929624]uncertain significance29632704996327049Humanname
597776520CV3683910single nucleotide variantNM_001008949.3(ITPRIPL1):c.487C>T (p.Pro163Ser)not specified [RCV004929625]uncertain significance29632711896327118Humanname
597776528CV3683912single nucleotide variantNM_001008949.3(ITPRIPL1):c.446G>A (p.Arg149His)not specified [RCV004929627]likely benign29632707796327077Humanname
597776532CV3683913single nucleotide variantNM_001008949.3(ITPRIPL1):c.545A>C (p.Asp182Ala)not specified [RCV004929628]uncertain significance29632717696327176Humanname
597776541CV3683915single nucleotide variantNM_001008949.3(ITPRIPL1):c.949A>C (p.Lys317Gln)not specified [RCV004929630]uncertain significance29632758096327580Humanname
597776562CV3683921single nucleotide variantNM_001034841.4(ITPRIPL2):c.374G>A (p.Arg125Gln)not specified [RCV004929636]uncertain significance161911483519114835Humanname
597776566CV3683922single nucleotide variantNM_001034841.4(ITPRIPL2):c.332T>A (p.Leu111Gln)not specified [RCV004929637]uncertain significance161911479319114793Humanname
598258341CV3969133single nucleotide variantNM_001008949.3(ITPRIPL1):c.998T>C (p.Val333Ala)not specified [RCV005347177]uncertain significance29632762996327629Humanname
598171945CV3969134single nucleotide variantNM_001008949.3(ITPRIPL1):c.438G>C (p.Glu146Asp)not specified [RCV005370678]uncertain significance29632706996327069Humanname
598211757CV3969135single nucleotide variantNM_001008949.3(ITPRIPL1):c.975G>C (p.Met325Ile)not specified [RCV005358732]uncertain significance29632760696327606Humanname
598211764CV3969136single nucleotide variantNM_001008949.3(ITPRIPL1):c.925A>G (p.Thr309Ala)not specified [RCV005358733]uncertain significance29632755696327556Humanname
598171950CV3969137single nucleotide variantNM_001008949.3(ITPRIPL1):c.667T>C (p.Phe223Leu)not specified [RCV005370679]uncertain significance29632729896327298Humanname
598171966CV3969141single nucleotide variantNM_001034841.4(ITPRIPL2):c.548C>T (p.Pro183Leu)not specified [RCV005370682]uncertain significance161911500919115009Humanname
598258349CV3969142single nucleotide variantNM_001034841.4(ITPRIPL2):c.736C>T (p.Leu246Phe)not specified [RCV005347179]uncertain significance161911519719115197Humanname
9686859CV171348single nucleotide variantNM_001008949.3(ITPRIPL1):c.1315G>A (p.Ala439Thr)Prostate cancer [RCV000149077]uncertain significance29632794696327946Human2name
156253861CV2193159single nucleotide variantNM_001008949.3(ITPRIPL1):c.1471C>T (p.His491Tyr)not specified [RCV004071157]uncertain significance29632810296328102Humanname
156398292CV2200633single nucleotide variantNM_001008949.3(ITPRIPL1):c.1070G>C (p.Arg357Pro)not specified [RCV004079319]uncertain significance29632770196327701Humanname
156141979CV2208477single nucleotide variantNM_001008949.3(ITPRIPL1):c.1232G>A (p.Arg411His)not specified [RCV004091014]uncertain significance29632786396327863Humanname
156223551CV2209249single nucleotide variantNM_001008949.3(ITPRIPL1):c.1190C>T (p.Ser397Phe)not specified [RCV004093436]uncertain significance29632782196327821Humanname
156242915CV2231467single nucleotide variantNM_001008949.3(ITPRIPL1):c.1070G>A (p.Arg357His)not specified [RCV004096539]uncertain significance29632770196327701Humanname
156042999CV2261503single nucleotide variantNM_001008949.3(ITPRIPL1):c.1448G>A (p.Arg483His)not specified [RCV004130121]uncertain significance29632807996328079Humanname
156172185CV2267840single nucleotide variantNM_001008949.3(ITPRIPL1):c.1017T>G (p.Phe339Leu)not specified [RCV004136143]uncertain significance29632764896327648Humanname
156089474CV2290800single nucleotide variantNM_001008949.3(ITPRIPL1):c.1095C>G (p.His365Gln)not specified [RCV004149303]uncertain significance29632772696327726Humanname
156304196CV2304706single nucleotide variantNM_001008949.3(ITPRIPL1):c.1078C>T (p.Arg360Cys)not specified [RCV004166866]uncertain significance29632770996327709Humanname
156268784CV2305805single nucleotide variantNM_001034841.4(ITPRIPL2):c.1318T>G (p.Phe440Val)not specified [RCV004167609]uncertain significance161911577919115779Humanname
156060364CV2380126single nucleotide variantNM_001034841.4(ITPRIPL2):c.1265G>T (p.Gly422Val)not specified [RCV004224503]uncertain significance161911572619115726Humanname
156249287CV2394076single nucleotide variantNM_001034841.4(ITPRIPL2):c.1187C>T (p.Thr396Ile)not specified [RCV004236290]uncertain significance161911564819115648Humanname
329387192CV2428409single nucleotide variantNM_001008949.3(ITPRIPL1):c.1245G>C (p.Glu415Asp)not specified [RCV004253212]uncertain significance29632787696327876Humanname
329384449CV2435070single nucleotide variantNM_001008949.3(ITPRIPL1):c.1015T>C (p.Phe339Leu)not specified [RCV004252717]uncertain significance29632764696327646Humanname
329392165CV2441282single nucleotide variantNM_001034841.4(ITPRIPL2):c.1364T>A (p.Val455Asp)not specified [RCV004257102]uncertain significance161911582519115825Humanname
401738954CV2676409single nucleotide variantNM_001034841.4(ITPRIPL2):c.1312G>A (p.Val438Met)not specified [RCV004286430]uncertain significance161911577319115773Humanname
401730050CV2700397single nucleotide variantNM_001034841.4(ITPRIPL2):c.1586G>C (p.Gly529Ala)not specified [RCV004311045]uncertain significance161911604719116047Humanname
401718628CV2704711single nucleotide variantNM_001008949.3(ITPRIPL1):c.1202G>C (p.Cys401Ser)not specified [RCV004307316]uncertain significance29632783396327833Humanname
401894022CV2770233single nucleotide variantNM_001034841.4(ITPRIPL2):c.1258G>T (p.Ala420Ser)not specified [RCV004356122]uncertain significance161911571919115719Humanname
405787498CV3264787single nucleotide variantNM_001008949.3(ITPRIPL1):c.1006A>G (p.Lys336Glu)not specified [RCV004398806]uncertain significance29632763796327637Humanname
405787502CV3264788single nucleotide variantNM_001008949.3(ITPRIPL1):c.1115G>A (p.Arg372Gln)not specified [RCV004398807]uncertain significance29632774696327746Humanname
405787507CV3264789single nucleotide variantNM_001008949.3(ITPRIPL1):c.1231C>T (p.Arg411Cys)not specified [RCV004398808]uncertain significance29632786296327862Humanname
405787511CV3264790single nucleotide variantNM_001008949.3(ITPRIPL1):c.1249A>T (p.Thr417Ser)not specified [RCV004398809]uncertain significance29632788096327880Humanname
405787514CV3264791single nucleotide variantNM_001008949.3(ITPRIPL1):c.1258C>G (p.Leu420Val)not specified [RCV004398810]uncertain significance29632788996327889Humanname
405787517CV3264792single nucleotide variantNM_001008949.3(ITPRIPL1):c.1484T>C (p.Ile495Thr)not specified [RCV004398811]uncertain significance29632811596328115Humanname
405787546CV3264799single nucleotide variantNM_001034841.4(ITPRIPL2):c.1147C>T (p.Arg383Cys)not specified [RCV004398818]uncertain significance161911560819115608Humanname
405787551CV3264800single nucleotide variantNM_001034841.4(ITPRIPL2):c.1163G>A (p.Arg388His)not specified [RCV004398819]uncertain significance161911562419115624Humanname
405787556CV3264801single nucleotide variantNM_001034841.4(ITPRIPL2):c.1363G>A (p.Val455Ile)not specified [RCV004398820]uncertain significance161911582419115824Humanname
407459742CV3447980single nucleotide variantNM_001034841.4(ITPRIPL2):c.1028C>G (p.Ala343Gly)not specified [RCV004633663]uncertain significance161911548919115489Humanname
407459712CV3451921single nucleotide variantNM_001034841.4(ITPRIPL2):c.1057C>T (p.Arg353Cys)not specified [RCV004633658]uncertain significance161911551819115518Humanname
597776485CV3683902single nucleotide variantNM_001008949.3(ITPRIPL1):c.1418G>A (p.Arg473Gln)not specified [RCV004929617]uncertain significance29632804996328049Humanname
597776503CV3683906single nucleotide variantNM_001008949.3(ITPRIPL1):c.1066T>C (p.Tyr356His)not specified [RCV004929621]uncertain significance29632769796327697Humanname
597776512CV3683908single nucleotide variantNM_001008949.3(ITPRIPL1):c.1444G>A (p.Gly482Ser)not specified [RCV004929623]uncertain significance29632807596328075Humanname
597776525CV3683911single nucleotide variantNM_001008949.3(ITPRIPL1):c.1487G>A (p.Gly496Asp)not specified [RCV004929626]uncertain significance29632811896328118Humanname
597776537CV3683914single nucleotide variantNM_001008949.3(ITPRIPL1):c.1433T>C (p.Leu478Pro)not specified [RCV004929629]uncertain significance29632806496328064Humanname
597776545CV3683916single nucleotide variantNM_001034841.4(ITPRIPL2):c.1258G>C (p.Ala420Pro)not specified [RCV004929631]uncertain significance161911571919115719Humanname
597776546CV3683917single nucleotide variantNM_001034841.4(ITPRIPL2):c.1141G>A (p.Ala381Thr)not specified [RCV004929632]uncertain significance161911560219115602Humanname
597776556CV3683919single nucleotide variantNM_001034841.4(ITPRIPL2):c.1286A>T (p.His429Leu)not specified [RCV004929634]uncertain significance161911574719115747Humanname
597776558CV3683920single nucleotide variantNM_001034841.4(ITPRIPL2):c.1516C>T (p.Leu506Phe)not specified [RCV004929635]uncertain significance161911597719115977Humanname
598258346CV3969140single nucleotide variantNM_001008949.3(ITPRIPL1):c.1402A>G (p.Asn468Asp)not specified [RCV005347178]uncertain significance29632803396328033Humanname
8627754CV82898duplicationNM_001034841.3(ITPRIPL2):c.632dupT (p.Lys212Glnfs)Malignant melanoma [RCV000062978]not provided161911509319115093Humanname