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


91 records found for search term Defb11
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156153433CV2369380single nucleotide variantNM_153289.4(DEFB119):c.61+1291C>Tnot specified [RCV004208281]uncertain significance203138913231389132Humanname
401778017CV2718426single nucleotide variantNM_153289.4(DEFB119):c.61+1219C>Tnot specified [RCV004318245]uncertain significance203138920431389204Humanname
407465720CV3426758single nucleotide variantNM_153289.4(DEFB119):c.61+1262G>Anot specified [RCV004613779]uncertain significance203138916131389161Humanname
597640740CV3658552single nucleotide variantNM_153289.4(DEFB119):c.61+1274G>Anot specified [RCV004908997]uncertain significance203138914931389149Humanname
597640659CV3658539single nucleotide variantNM_001369057.2(DEFB112):c.58+1261A>Gnot specified [RCV004908986]uncertain significance65004855150048551Humanname
8637243CV92469single nucleotide variantNM_153289.3(DEFB119):c.3G>A (p.Met1Ile)Malignant melanoma [RCV000072567]not provided203139048131390481Humanname
156343731CV2364155single nucleotide variantNM_153289.4(DEFB119):c.83G>A (p.Cys28Tyr)not specified [RCV004223399]uncertain significance203137741831377418Humanname
401875129CV2791113single nucleotide variantNM_153289.4(DEFB119):c.80G>A (p.Arg27Gln)not specified [RCV004356489]uncertain significance203137742131377421Humanname
405668768CV3240166single nucleotide variantNM_054112.3(DEFB118):c.53T>C (p.Ile18Thr)not specified [RCV004368218]uncertain significance203136870331368703Humanname
597640411CV3658550single nucleotide variantNM_054112.3(DEFB118):c.49G>C (p.Val17Leu)not specified [RCV004908996]uncertain significance203136869931368699Humanname
156221351CV2222524single nucleotide variantNM_153289.4(DEFB119):c.140T>G (p.Leu47Arg)not specified [RCV004099365]uncertain significance203137736131377361Humanname
156389389CV2226251single nucleotide variantNM_153289.4(DEFB119):c.109G>A (p.Ala37Thr)not specified [RCV004099500]uncertain significance203137739231377392Humanname
156077882CV2248448single nucleotide variantNM_153289.4(DEFB119):c.185G>A (p.Arg62Lys)not specified [RCV004119585]uncertain significance203137731631377316Humanname
156253195CV2311438single nucleotide variantNM_054112.3(DEFB118):c.271A>G (p.Thr91Ala)not specified [RCV004168284]uncertain significance203137306931373069Humanname
156183932CV2335477single nucleotide variantNM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr)not specified [RCV004191647]uncertain significance203137294631372946Humanname
156101450CV2367647single nucleotide variantNM_054112.3(DEFB118):c.161G>A (p.Cys54Tyr)not specified [RCV004211569]uncertain significance203137295931372959Humanname
405668753CV3240163single nucleotide variantNM_054112.3(DEFB118):c.142T>C (p.Cys48Arg)not specified [RCV004368215]uncertain significance203137294031372940Humanname
405668758CV3240164single nucleotide variantNM_054112.3(DEFB118):c.161G>T (p.Cys54Phe)not specified [RCV004368216]uncertain significance203137295931372959Humanname
405668773CV3240167single nucleotide variantNM_153289.4(DEFB119):c.119A>G (p.Lys40Arg)not specified [RCV004368219]likely benign203137738231377382Humanname
597640417CV3658553single nucleotide variantNM_153289.4(DEFB119):c.217G>A (p.Asp73Asn)not specified [RCV004908998]uncertain significance203137728431377284Humanname
597640423CV3658554single nucleotide variantNM_153289.4(DEFB119):c.221G>C (p.Trp74Ser)not specified [RCV004908999]uncertain significance203137728031377280Humanname
598223703CV3956525single nucleotide variantNM_001037730.1(DEFB115):c.7C>T (p.Pro3Ser)not specified [RCV005318115]uncertain significance203125767031257670Humanname
598223729CV3956529single nucleotide variantNM_153289.4(DEFB119):c.127G>A (p.Glu43Lys)not specified [RCV005318119]uncertain significance203137737431377374Humanname
156178350CV2201585single nucleotide variantNM_001037497.2(DEFB110):c.13C>A (p.Leu5Ile)not specified [RCV004080074]uncertain significance65002192350021923Humanname
156223183CV2399961single nucleotide variantNM_054112.3(DEFB118):c.365G>A (p.Ser122Asn)not specified [RCV004246891]uncertain significance203137316331373163Humanname
401743778CV2696864single nucleotide variantNM_001037729.1(DEFB113):c.10C>A (p.Leu4Ile)not specified [RCV004290828]uncertain significance64996961649969616Humanname
401854359CV2766900single nucleotide variantNM_001037729.1(DEFB113):c.16A>C (p.Ile6Leu)not specified [RCV004343295]uncertain significance64996961049969610Humanname
407465715CV3426757single nucleotide variantNM_054112.3(DEFB118):c.355G>A (p.Val119Ile)not specified [RCV004613778]uncertain significance203137315331373153Humanname
597783109CV3658551single nucleotide variantNM_054112.3(DEFB118):c.362A>G (p.His121Arg)not specified [RCV004900173]uncertain significance203137316031373160Humanname
598223722CV3956528single nucleotide variantNM_054112.3(DEFB118):c.329G>A (p.Arg110Lys)not specified [RCV005318118]uncertain significance203137312731373127Humanname
8632107CV87313single nucleotide variantNM_001037498.1(DEFB112):c.168G>A (p.Ala56=)Malignant melanoma [RCV000067404]not provided65004374950043749Humanname
155934036CV2229062single nucleotide variantNM_001037497.2(DEFB110):c.32A>C (p.His11Pro)not specified [RCV004098837]uncertain significance65002190450021904Humanname
156073369CV2240690single nucleotide variantNM_001037497.2(DEFB110):c.35T>A (p.Phe12Tyr)not specified [RCV004119320]uncertain significance65002190150021901Humanname
156026337CV2242342single nucleotide variantNM_001037730.1(DEFB115):c.44T>A (p.Leu15His)not specified [RCV004111350]uncertain significance203125770731257707Humanname
156282435CV2252405single nucleotide variantNM_001037497.2(DEFB110):c.63G>T (p.Lys21Asn)not specified [RCV004116246]uncertain significance65001911850019118Humanname
156060280CV2263042single nucleotide variantNM_001037497.2(DEFB110):c.56C>T (p.Ala19Val)not specified [RCV004131299]uncertain significance65001912550019125Humanname
156396621CV2322478single nucleotide variantNM_001037730.1(DEFB115):c.56C>A (p.Ala19Asp)not specified [RCV004180599]uncertain significance203125771931257719Humanname
156081552CV2333790single nucleotide variantNM_001037497.2(DEFB110):c.77A>G (p.Tyr26Cys)not specified [RCV004181293]uncertain significance65001910450019104Humanname
329356016CV2430547single nucleotide variantNM_001037497.2(DEFB110):c.52C>T (p.Pro18Ser)not specified [RCV004252130]uncertain significance65002188450021884Humanname
329393276CV2449617single nucleotide variantNM_001037499.2(DEFB114):c.94C>T (p.Arg32Cys)not specified [RCV004268535]uncertain significance64996040849960408Humanname
329388792CV2469576single nucleotide variantNM_001037499.2(DEFB114):c.40A>G (p.Thr14Ala)not specified [RCV004283009]uncertain significance64996406649964066Humanname
401776970CV2711562single nucleotide variantNM_001037731.1(DEFB116):c.76T>C (p.Phe26Leu)not specified [RCV004306872]uncertain significance203130344531303445Humanname
401890179CV2762355single nucleotide variantNM_001037499.2(DEFB114):c.83G>A (p.Arg28His)not specified [RCV004335467]uncertain significance64996041949960419Humanname
405668705CV3240153single nucleotide variantNM_001037497.2(DEFB110):c.76T>C (p.Tyr26His)not specified [RCV004368205]uncertain significance65001910550019105Humanname
405668724CV3240157single nucleotide variantNM_001037499.2(DEFB114):c.43T>A (p.Phe15Ile)not specified [RCV004368209]uncertain significance64996406349964063Humanname
405668728CV3240158single nucleotide variantNM_001037499.2(DEFB114):c.98A>G (p.Tyr33Cys)not specified [RCV004368210]uncertain significance64996040449960404Humanname
405668743CV3240161single nucleotide variantNM_001037731.1(DEFB116):c.87C>A (p.His29Gln)not specified [RCV004368213]uncertain significance203130343431303434Humanname
405668748CV3240162single nucleotide variantNM_001037731.1(DEFB116):c.95A>G (p.Lys32Arg)not specified [RCV004368214]uncertain significance203130342631303426Humanname
407465689CV3426751single nucleotide variantNM_001037497.2(DEFB110):c.95G>A (p.Arg32Lys)not specified [RCV004613772]uncertain significance65001908650019086Humanname
597640648CV3658541single nucleotide variantNM_001037499.2(DEFB114):c.56C>A (p.Ala19Asp)not specified [RCV004908988]uncertain significance64996044649960446Humanname
597640630CV3658545single nucleotide variantNM_001037730.1(DEFB115):c.83A>G (p.Gln28Arg)not specified [RCV004908991]uncertain significance203125774631257746Humanname
597640624CV3658546single nucleotide variantNM_001037730.1(DEFB115):c.91C>A (p.Pro31Thr)not specified [RCV004908992]uncertain significance203125775431257754Humanname
597640614CV3658548single nucleotide variantNM_001037731.1(DEFB116):c.37A>T (p.Ile13Phe)not specified [RCV004908994]uncertain significance203130854931308549Humanname
156134605CV2213189single nucleotide variantNM_001037731.1(DEFB116):c.256G>A (p.Asp86Asn)not specified [RCV004085418]uncertain significance203130326531303265Humanname
156337370CV2228680single nucleotide variantNM_001369057.2(DEFB112):c.202T>C (p.Cys68Arg)not specified [RCV004092899]uncertain significance65004365850043658Humanname
156239987CV2235994single nucleotide variantNM_001037728.2(DEFB110):c.122C>T (p.Thr41Met)not specified [RCV004113867]uncertain significance65000920550009205Humanname
156114134CV2268495single nucleotide variantNM_001037731.1(DEFB116):c.193C>G (p.Gln65Glu)not specified [RCV004130184]uncertain significance203130332831303328Humanname
156015966CV2270100single nucleotide variantNM_001369057.2(DEFB112):c.235A>C (p.Lys79Gln)not specified [RCV004129061]uncertain significance65004362550043625Humanname
156071024CV2289680single nucleotide variantNM_001369057.2(DEFB112):c.143A>G (p.Asp48Gly)not specified [RCV004148590]uncertain significance65004371750043717Humanname
156186931CV2302745single nucleotide variantNM_001369057.2(DEFB112):c.176C>T (p.Pro59Leu)not specified [RCV004162670]uncertain significance65004368450043684Humanname
156257367CV2322058single nucleotide variantNM_001037730.1(DEFB115):c.202C>T (p.Pro68Ser)not specified [RCV004173803]uncertain significance203125956731259567Humanname
155991283CV2372149single nucleotide variantNM_001037729.1(DEFB113):c.126C>G (p.Cys42Trp)not specified [RCV004223671]uncertain significance64996880049968800Humanname
155926967CV2395913single nucleotide variantNM_001037730.1(DEFB115):c.125C>T (p.Thr42Ile)not specified [RCV004237471]likely benign203125949031259490Humanname
329370942CV2431818single nucleotide variantNM_001369057.2(DEFB112):c.196A>G (p.Thr66Ala)not specified [RCV004254962]uncertain significance65004366450043664Humanname
329365547CV2440871single nucleotide variantNM_001037731.1(DEFB116):c.197A>G (p.Lys66Arg)not specified [RCV004261266]uncertain significance203130332431303324Humanname
401730905CV2674193single nucleotide variantNM_001037729.1(DEFB113):c.131C>T (p.Pro44Leu)not specified [RCV004289088]uncertain significance64996879549968795Humanname
401728419CV2686078single nucleotide variantNM_001037731.1(DEFB116):c.269A>C (p.Asn90Thr)not specified [RCV004297088]uncertain significance203130325231303252Humanname
401894004CV2770213single nucleotide variantNM_001037729.1(DEFB113):c.240T>A (p.His80Gln)not specified [RCV004356104]uncertain significance64996868649968686Humanname
401875048CV2791041single nucleotide variantNM_001037497.2(DEFB110):c.146A>T (p.Asn49Ile)not specified [RCV004354649]uncertain significance65001903550019035Humanname
405668697CV3240152single nucleotide variantNM_001037497.2(DEFB110):c.155G>A (p.Arg52Lys)not specified [RCV004368204]uncertain significance65001902650019026Humanname
405668710CV3240154single nucleotide variantNM_001037729.1(DEFB113):c.172G>A (p.Val58Ile)not specified [RCV004368206]uncertain significance64996875449968754Humanname
405668716CV3240155single nucleotide variantNM_001037499.2(DEFB114):c.103C>T (p.Arg35Cys)not specified [RCV004368207]uncertain significance64996039949960399Humanname
405668720CV3240156single nucleotide variantNM_001037499.2(DEFB114):c.116A>G (p.Asp39Gly)not specified [RCV004368208]uncertain significance64996038649960386Humanname
405668732CV3240159single nucleotide variantNM_001037730.1(DEFB115):c.159G>C (p.Glu53Asp)not specified [RCV004368211]uncertain significance203125952431259524Humanname
405668737CV3240160single nucleotide variantNM_001037731.1(DEFB116):c.134G>C (p.Gly45Ala)not specified [RCV004368212]uncertain significance203130338731303387Humanname
407465697CV3426753single nucleotide variantNM_001369057.2(DEFB112):c.277C>T (p.Arg93Cys)not specified [RCV004613774]uncertain significance65004358350043583Humanname
407465702CV3426754single nucleotide variantNM_001037729.1(DEFB113):c.230G>A (p.Ser77Asn)not specified [RCV004613775]uncertain significance64996869649968696Humanname
407465706CV3426755single nucleotide variantNM_001037730.1(DEFB115):c.205A>G (p.Lys69Glu)not specified [RCV004613776]uncertain significance203125957031259570Humanname
407465712CV3426756single nucleotide variantNM_001037731.1(DEFB116):c.179C>G (p.Thr60Ser)not specified [RCV004613777]uncertain significance203130334231303342Humanname
597640652CV3658540single nucleotide variantNM_001037729.1(DEFB113):c.116G>A (p.Arg39His)not specified [RCV004908987]uncertain significance64996881049968810Humanname
597640643CV3658542single nucleotide variantNM_001037730.1(DEFB115):c.203C>T (p.Pro68Leu)not specified [RCV004908989]uncertain significance203125956831259568Humanname
597640635CV3658544single nucleotide variantNM_001037730.1(DEFB115):c.236A>T (p.Asp79Val)not specified [RCV004908990]uncertain significance203125960131259601Humanname
597640619CV3658547single nucleotide variantNM_001037731.1(DEFB116):c.179C>A (p.Thr60Asn)not specified [RCV004908993]uncertain significance203130334231303342Humanname
597640609CV3658549single nucleotide variantNM_001037731.1(DEFB116):c.265T>C (p.Ser89Pro)not specified [RCV004908995]uncertain significance203130325631303256Humanname
598223683CV3956521single nucleotide variantNM_001037729.1(DEFB113):c.188C>T (p.Ala63Val)not specified [RCV005318112]likely benign64996873849968738Humanname
598160661CV3956522single nucleotide variantNM_001037729.1(DEFB113):c.130C>A (p.Pro44Thr)not specified [RCV005328822]likely benign64996879649968796Humanname
598223698CV3956524single nucleotide variantNM_001037729.1(DEFB113):c.169A>G (p.Asn57Asp)not specified [RCV005318114]likely benign64996875749968757Humanname
598223711CV3956526single nucleotide variantNM_001037731.1(DEFB116):c.256G>T (p.Asp86Tyr)not specified [RCV005318116]uncertain significance203130326531303265Humanname
598223716CV3956527single nucleotide variantNM_001037731.1(DEFB116):c.133G>A (p.Gly45Ser)not specified [RCV005318117]uncertain significance203130338831303388Humanname
8632106CV87312single nucleotide variantNM_001037498.1(DEFB112):c.271G>A (p.Asp91Asn)Malignant melanoma [RCV000067403]not provided65004364650043646Humanname
155927335CV2230769single nucleotide variantNM_001037731.1(DEFB116):c.304A>G (p.Ile102Val)not specified [RCV004091989]uncertain significance203130321731303217Humanname