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


126 records found for search term Tp53bp1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15111865CV776451single nucleotide variantNM_005657.4(TP53BP1):c.2702-4T>Cnot provided [RCV000938832]likely benign154344748943447489Humanname
151349432CV1325362single nucleotide variantNM_001141980.3(TP53BP1):c.4100+1G>Anot provided [RCV001814650]not provided154342185443421854Humanname
151725912CV1517357single nucleotide variantNM_001141980.3(TP53BP1):c.5306-2A>Gnot provided [RCV002051595]not provided154340974343409743Humanname
8584399CV118972single nucleotide variantNM_001141979.1(TP53BP1):c.955+358C>GLung cancer [RCV000099492]uncertain significance154347723543477235Humanname
15178161CV743555single nucleotide variantNM_001141980.3(TP53BP1):c.987G>A (p.Arg329=)not provided [RCV000906811]benign154347566343475663Humanname
156182696CV2255259single nucleotide variantNM_001141980.3(TP53BP1):c.143T>C (p.Leu48Pro)not specified [RCV004117650]uncertain significance154349233343492333Humanname
405758784CV3347147single nucleotide variantNM_001141980.3(TP53BP1):c.130C>T (p.His44Tyr)not specified [RCV004468247]uncertain significance154349234643492346Humanname
407521204CV3486895single nucleotide variantNM_001141980.3(TP53BP1):c.139A>G (p.Met47Val)not specified [RCV004677213]likely benign154349233743492337Humanname
15101686CV706419single nucleotide variantNM_001141980.3(TP53BP1):c.2250T>A (p.Ala750=)not provided [RCV000959141]benign154345635843456358Humanname
15147515CV717957single nucleotide variantNM_001141980.3(TP53BP1):c.2367C>G (p.Ser789=)not provided [RCV000967355]benign154345624143456241Humanname
15199198CV758711single nucleotide variantNM_001141980.3(TP53BP1):c.1512T>C (p.Asn504=)not provided [RCV000912478]likely benign154345709643457096Humanname
155935015CV2225474single nucleotide variantNM_001141980.3(TP53BP1):c.680C>A (p.Ser227Tyr)not specified [RCV004100868]uncertain significance154347950543479505Humanname
156245603CV2231692single nucleotide variantNM_001141980.3(TP53BP1):c.979C>A (p.Pro327Thr)not specified [RCV004098253]uncertain significance154347567143475671Humanname
156244446CV2347151single nucleotide variantNM_001141980.3(TP53BP1):c.329G>A (p.Ser110Asn)not specified [RCV004204627]uncertain significance154349171143491711Humanname
401760442CV2695044single nucleotide variantNM_001141980.3(TP53BP1):c.815A>G (p.Lys272Arg)not specified [RCV004303204]uncertain significance154347773343477733Humanname
401784297CV2721243single nucleotide variantNM_001141980.3(TP53BP1):c.633G>C (p.Arg211Ser)not specified [RCV004330182]uncertain significance154347988443479884Humanname
401883592CV2758007single nucleotide variantNM_001141980.3(TP53BP1):c.680C>T (p.Ser227Phe)not specified [RCV004339176]uncertain significance154347950543479505Humanname
401862723CV2778979single nucleotide variantNM_001141980.3(TP53BP1):c.782C>G (p.Pro261Arg)not specified [RCV004348637]uncertain significance154347940343479403Humanname
405758937CV3343716single nucleotide variantNM_001141980.3(TP53BP1):c.665A>G (p.Lys222Arg)not specified [RCV004468272]uncertain significance154347952043479520Humanname
405758943CV3343717single nucleotide variantNM_001141980.3(TP53BP1):c.869T>C (p.Met290Thr)not specified [RCV004468273]likely benign154347767943477679Humanname
405758949CV3343718single nucleotide variantNM_001141980.3(TP53BP1):c.941A>G (p.Gln314Arg)not specified [RCV004468274]uncertain significance154347760743477607Humanname
405758895CV3347165single nucleotide variantNM_001141980.3(TP53BP1):c.415G>A (p.Glu139Lys)not specified [RCV004468265]uncertain significance154348097943480979Humanname
407461168CV3486893single nucleotide variantNM_001141980.3(TP53BP1):c.689A>C (p.Asp230Ala)not specified [RCV004687584]uncertain significance154347949643479496Humanname
407521207CV3486897single nucleotide variantNM_001141980.3(TP53BP1):c.772A>C (p.Asn258His)not specified [RCV004677214]uncertain significance154347941343479413Humanname
407521225CV3486902single nucleotide variantNM_001141980.3(TP53BP1):c.683A>G (p.Asn228Ser)not specified [RCV004677219]uncertain significance154347950243479502Humanname
597787422CV3611157single nucleotide variantNM_001141980.3(TP53BP1):c.743G>A (p.Ser248Asn)not specified [RCV004875598]uncertain significance154347944243479442Humanname
15200228CV706420single nucleotide variantNM_001141980.3(TP53BP1):c.4332C>T (p.Val1444=)not provided [RCV000957269]benign154342065443420654Humanname
15172260CV706421single nucleotide variantNM_001141980.3(TP53BP1):c.5490T>C (p.Cys1830=)not provided [RCV000949989]likely benign154340900743409007Humanname
15106898CV717955single nucleotide variantNM_001141980.3(TP53BP1):c.895T>C (p.Ser299Pro)not provided [RCV000960175]benign154347765343477653Humanname
15158161CV743556single nucleotide variantNM_001141980.3(TP53BP1):c.4308A>G (p.Pro1436=)not provided [RCV000902678]benign154342067843420678Humanname
156268436CV2195015single nucleotide variantNM_001141980.3(TP53BP1):c.2909A>G (p.Asp970Gly)not specified [RCV004077936]uncertain significance154344651843446518Humanname
156185353CV2222606single nucleotide variantNM_001141980.3(TP53BP1):c.1769A>G (p.Lys590Arg)not specified [RCV004099433]uncertain significance154345683943456839Humanname
155928673CV2224416single nucleotide variantNM_001141980.3(TP53BP1):c.2815A>G (p.Lys939Glu)not specified [RCV004098023]uncertain significance154344738743447387Humanname
156201307CV2256145single nucleotide variantNM_001141980.3(TP53BP1):c.2327C>T (p.Ser776Phe)not specified [RCV004116423]uncertain significance154345628143456281Humanname
156070001CV2267136single nucleotide variantNM_001141980.3(TP53BP1):c.1193A>G (p.Asp398Gly)not specified [RCV004133832]uncertain significance154347005443470054Humanname
156367117CV2269825single nucleotide variantNM_001141980.3(TP53BP1):c.2895G>A (p.Met965Ile)not specified [RCV004127064]uncertain significance154344653243446532Humanname
156066906CV2270805single nucleotide variantNM_001141980.3(TP53BP1):c.1959G>A (p.Met653Ile)not specified [RCV004131855]uncertain significance154345664943456649Humanname
156279631CV2285095single nucleotide variantNM_001141980.3(TP53BP1):c.1143C>G (p.Ile381Met)not specified [RCV004145325]uncertain significance154347471043474710Humanname
156173152CV2290023single nucleotide variantNM_001141980.3(TP53BP1):c.2329T>C (p.Cys777Arg)not specified [RCV004152722]uncertain significance154345627943456279Humanname
156170205CV2400552single nucleotide variantNM_001141980.3(TP53BP1):c.1189A>G (p.Met397Val)not specified [RCV004246742]uncertain significance154347005843470058Humanname
329386567CV2428332single nucleotide variantNM_001141980.3(TP53BP1):c.2374T>C (p.Trp792Arg)not specified [RCV004251354]uncertain significance154345623443456234Humanname
329390446CV2440256single nucleotide variantNM_001141980.3(TP53BP1):c.1294A>C (p.Thr432Pro)not specified [RCV004262742]uncertain significance154346995343469953Humanname
401720405CV2673312single nucleotide variantNM_001141980.3(TP53BP1):c.1813T>A (p.Leu605Ile)not specified [RCV004288299]uncertain significance154345679543456795Humanname
401739617CV2684121single nucleotide variantNM_001141980.3(TP53BP1):c.1838A>G (p.Glu613Gly)not specified [RCV004288802]uncertain significance154345677043456770Humanname
401895683CV2771412single nucleotide variantNM_001141980.3(TP53BP1):c.1804A>G (p.Ile602Val)not specified [RCV004348465]uncertain significance154345680443456804Humanname
401878782CV2777886single nucleotide variantNM_001141980.3(TP53BP1):c.1807A>T (p.Ser603Cys)not specified [RCV004347856]uncertain significance154345680143456801Humanname
401894268CV2780543single nucleotide variantNM_001141980.3(TP53BP1):c.2071A>G (p.Ser691Gly)not specified [RCV004358229]uncertain significance154345653743456537Humanname
405758768CV3347144single nucleotide variantNM_001141980.3(TP53BP1):c.1114C>T (p.Pro372Ser)not specified [RCV004468244]uncertain significance154347473943474739Humanname
405758772CV3347145single nucleotide variantNM_001141980.3(TP53BP1):c.1121C>G (p.Ala374Gly)not specified [RCV004468245]uncertain significance154347473243474732Humanname
405758790CV3347148single nucleotide variantNM_001141980.3(TP53BP1):c.1277C>A (p.Pro426His)not specified [RCV004468248]uncertain significance154346997043469970Humanname
405758797CV3347149single nucleotide variantNM_001141980.3(TP53BP1):c.1366C>G (p.Pro456Ala)not specified [RCV004468249]uncertain significance154346988143469881Humanname
405758802CV3347150single nucleotide variantNM_001141980.3(TP53BP1):c.1516C>T (p.Pro506Ser)not specified [RCV004468250]uncertain significance154345709243457092Humanname
405758809CV3347151single nucleotide variantNM_001141980.3(TP53BP1):c.1727C>T (p.Pro576Leu)not specified [RCV004468251]uncertain significance154345688143456881Humanname
405758814CV3347152single nucleotide variantNM_001141980.3(TP53BP1):c.1754G>A (p.Ser585Asn)not specified [RCV004468252]likely benign154345685443456854Humanname
405758820CV3347153single nucleotide variantNM_001141980.3(TP53BP1):c.1802A>G (p.Asp601Gly)not specified [RCV004468253]uncertain significance154345680643456806Humanname
405758825CV3347154single nucleotide variantNM_001141980.3(TP53BP1):c.2120G>C (p.Cys707Ser)not specified [RCV004468254]uncertain significance154345648843456488Humanname
405758833CV3347155single nucleotide variantNM_001141980.3(TP53BP1):c.2183T>A (p.Ile728Asn)not specified [RCV004468255]uncertain significance154345642543456425Humanname
405758840CV3347156single nucleotide variantNM_001141980.3(TP53BP1):c.2528T>G (p.Val843Gly)not specified [RCV004468256]uncertain significance154345608043456080Humanname
405758846CV3347157single nucleotide variantNM_001141980.3(TP53BP1):c.2706A>C (p.Glu902Asp)not specified [RCV004468257]uncertain significance154345590243455902Humanname
407521196CV3486892single nucleotide variantNM_001141980.3(TP53BP1):c.2066T>C (p.Met689Thr)not specified [RCV004677211]uncertain significance154345654243456542Humanname
407521199CV3486894single nucleotide variantNM_001141980.3(TP53BP1):c.1244A>G (p.Gln415Arg)not specified [RCV004677212]uncertain significance154347000343470003Humanname
407521212CV3486898single nucleotide variantNM_001141980.3(TP53BP1):c.2130G>C (p.Lys710Asn)not specified [RCV004677215]uncertain significance154345647843456478Humanname
407521218CV3486900single nucleotide variantNM_001141980.3(TP53BP1):c.1430A>G (p.Asn477Ser)not specified [RCV004677217]uncertain significance154345717843457178Humanname
407521222CV3486901single nucleotide variantNM_001141980.3(TP53BP1):c.2684A>G (p.His895Arg)not specified [RCV004677218]uncertain significance154345592443455924Humanname
407521228CV3486903single nucleotide variantNM_001141980.3(TP53BP1):c.1885G>C (p.Gly629Arg)not specified [RCV004677220]uncertain significance154345672343456723Humanname
407521231CV3486904single nucleotide variantNM_001141980.3(TP53BP1):c.1924G>A (p.Ala642Thr)not specified [RCV004677221]uncertain significance154345668443456684Humanname
407521234CV3486906single nucleotide variantNM_001141980.3(TP53BP1):c.1655A>G (p.Asp552Gly)not specified [RCV004677222]uncertain significance154345695343456953Humanname
407521238CV3486908single nucleotide variantNM_001141980.3(TP53BP1):c.1321A>G (p.Ile441Val)not specified [RCV004677224]likely benign154346992643469926Humanname
407521242CV3486909single nucleotide variantNM_001141980.3(TP53BP1):c.1656T>G (p.Asp552Glu)not specified [RCV004677225]uncertain significance154345695243456952Humanname
597787445CV3611163single nucleotide variantNM_001141980.3(TP53BP1):c.2506T>C (p.Ser836Pro)not specified [RCV004875604]likely benign154345610243456102Humanname
597787449CV3611164single nucleotide variantNM_001141980.3(TP53BP1):c.1662A>T (p.Glu554Asp)not specified [RCV004875605]uncertain significance154345694643456946Humanname
598254823CV3928235single nucleotide variantNM_001141980.3(TP53BP1):c.2404T>C (p.Cys802Arg)not specified [RCV005278504]uncertain significance154345620443456204Humanname
15161167CV706416single nucleotide variantNM_001141980.3(TP53BP1):c.1085C>T (p.Thr362Met)not provided [RCV000947623]likely benign154347556543475565Humanname
15189813CV706417single nucleotide variantNM_001141980.3(TP53BP1):c.1844C>T (p.Thr615Met)not provided [RCV000954290]likely benign154345676443456764Humanname
15102040CV706418single nucleotide variantNM_001141980.3(TP53BP1):c.2111A>G (p.Gln704Arg)not provided [RCV000959214]benign154345649743456497Humanname
15175855CV717956single nucleotide variantNM_001141980.3(TP53BP1):c.1657A>G (p.Thr553Ala)not provided [RCV000973048]benign154345695143456951Humanname
156178875CV2229439single nucleotide variantNM_001141980.3(TP53BP1):c.3370G>A (p.Ala1124Thr)not specified [RCV004101211]uncertain significance154343249943432499Humanname
155983129CV2239953single nucleotide variantNM_001141980.3(TP53BP1):c.5116A>T (p.Ser1706Cys)not specified [RCV004110752]uncertain significance154341330843413308Humanname
156116473CV2282909single nucleotide variantNM_001141980.3(TP53BP1):c.5291G>T (p.Ser1764Ile)not specified [RCV004143551]uncertain significance154341313343413133Humanname
156015144CV2298685single nucleotide variantNM_001141980.3(TP53BP1):c.5264A>T (p.Lys1755Ile)not specified [RCV004156261]uncertain significance154341316043413160Humanname
156069271CV2318053single nucleotide variantNM_001141980.3(TP53BP1):c.5753C>G (p.Ala1918Gly)not specified [RCV004177154]uncertain significance154340756443407564Humanname
156394917CV2328300single nucleotide variantNM_001141980.3(TP53BP1):c.3652G>A (p.Asp1218Asn)not specified [RCV004175419]uncertain significance154343221743432217Humanname
156051539CV2328960single nucleotide variantNM_001141980.3(TP53BP1):c.4752G>T (p.Lys1584Asn)not specified [RCV004180257]uncertain significance154341634643416346Humanname
156079383CV2341251single nucleotide variantNM_001141980.3(TP53BP1):c.5761G>A (p.Val1921Ile)not specified [RCV004186664]uncertain significance154340755643407556Humanname
155974345CV2342541single nucleotide variantNM_001141980.3(TP53BP1):c.3164G>T (p.Ser1055Ile)not specified [RCV004196639]uncertain significance154343835143438351Humanname
156246411CV2347312single nucleotide variantNM_001141980.3(TP53BP1):c.3176C>T (p.Pro1059Leu)not specified [RCV004206791]uncertain significance154343833943438339Humanname
156246426CV2347313single nucleotide variantNM_001141980.3(TP53BP1):c.5099G>T (p.Gly1700Val)not specified [RCV004206792]uncertain significance154341332543413325Humanname
156169890CV2354824single nucleotide variantNM_001141980.3(TP53BP1):c.4996A>G (p.Met1666Val)not specified [RCV004191322]uncertain significance154341568743415687Humanname
156006709CV2401227single nucleotide variantNM_001141980.3(TP53BP1):c.3095C>T (p.Ala1032Val)not specified [RCV004245779]uncertain significance154344152943441529Humanname
329383930CV2434920single nucleotide variantNM_001141980.3(TP53BP1):c.3951A>T (p.Leu1317Phe)not specified [RCV004250791]uncertain significance154342200443422004Humanname
329390985CV2447593single nucleotide variantNM_001141980.3(TP53BP1):c.4046C>T (p.Thr1349Ile)not specified [RCV004258400]uncertain significance154342190943421909Humanname
401741915CV2677466single nucleotide variantNM_001141980.3(TP53BP1):c.3259A>C (p.Thr1087Pro)not specified [RCV004289535]uncertain significance154343261043432610Humanname
401776051CV2724311single nucleotide variantNM_001141980.3(TP53BP1):c.3443T>C (p.Leu1148Ser)not specified [RCV004328182]uncertain significance154343242643432426Humanname
401888886CV2765030single nucleotide variantNM_001141980.3(TP53BP1):c.5165A>T (p.Glu1722Val)not specified [RCV004337152]uncertain significance154341325943413259Humanname
401875897CV2789202single nucleotide variantNM_001141980.3(TP53BP1):c.3715C>A (p.His1239Asn)not specified [RCV004365243]uncertain significance154342812943428129Humanname
405271647CV3206209single nucleotide variantNM_001141980.3(TP53BP1):c.5696C>G (p.Thr1899Ser)TP53BP1-related disorder [RCV003971862]likely benign154340799343407993Humanname , trait , alternate_id
405290391CV3207492single nucleotide variantNM_001141980.3(TP53BP1):c.5257C>T (p.Arg1753Cys)TP53BP1-related disorder [RCV003927072]likely benign154341316743413167Humanname , trait , alternate_id
405758901CV3343710single nucleotide variantNM_001141980.3(TP53BP1):c.4054G>A (p.Ala1352Thr)not specified [RCV004468266]uncertain significance154342190143421901Humanname
405758907CV3343711single nucleotide variantNM_001141980.3(TP53BP1):c.4256C>T (p.Thr1419Ile)not specified [RCV004468267]uncertain significance154342073043420730Humanname
405758913CV3343712single nucleotide variantNM_001141980.3(TP53BP1):c.4270C>G (p.Pro1424Ala)not specified [RCV004468268]uncertain significance154342071643420716Humanname
405758919CV3343713single nucleotide variantNM_001141980.3(TP53BP1):c.4288A>G (p.Ile1430Val)not specified [RCV004468269]uncertain significance154342069843420698Humanname
405758925CV3343714single nucleotide variantNM_001141980.3(TP53BP1):c.4538G>A (p.Arg1513Gln)not specified [RCV004468270]uncertain significance154342044843420448Humanname
405758931CV3343715single nucleotide variantNM_001141980.3(TP53BP1):c.5813G>A (p.Cys1938Tyr)not specified [RCV004468271]uncertain significance154340750443407504Humanname
405758850CV3347158single nucleotide variantNM_001141980.3(TP53BP1):c.3026A>G (p.Gln1009Arg)not specified [RCV004468258]uncertain significance154344640143446401Humanname
405758859CV3347159single nucleotide variantNM_001141980.3(TP53BP1):c.3055G>C (p.Glu1019Gln)not specified [RCV004468259]uncertain significance154344156943441569Humanname
405758868CV3347161single nucleotide variantNM_001141980.3(TP53BP1):c.3148G>A (p.Glu1050Lys)not specified [RCV004468261]uncertain significance154343836743438367Humanname
405758876CV3347162single nucleotide variantNM_001141980.3(TP53BP1):c.3631C>T (p.Pro1211Ser)not specified [RCV004468262]uncertain significance154343223843432238Humanname
405758881CV3347163single nucleotide variantNM_001141980.3(TP53BP1):c.3761T>G (p.Leu1254Arg)not specified [RCV004468263]uncertain significance154342808343428083Humanname
405758889CV3347164single nucleotide variantNM_001141980.3(TP53BP1):c.3899C>T (p.Ser1300Phe)not specified [RCV004468264]uncertain significance154342205643422056Humanname
407521215CV3486899single nucleotide variantNM_001141980.3(TP53BP1):c.4079G>A (p.Arg1360Gln)not specified [RCV004677216]uncertain significance154342187643421876Humanname
407461175CV3486905single nucleotide variantNM_001141980.3(TP53BP1):c.5119C>T (p.Pro1707Ser)not specified [RCV004687586]uncertain significance154341330543413305Humanname
407521244CV3486910single nucleotide variantNM_001141980.3(TP53BP1):c.4333G>A (p.Val1445Met)not specified [RCV004677226]uncertain significance154342065343420653Humanname
407487772CV3486911single nucleotide variantNM_001141980.3(TP53BP1):c.5917G>A (p.Asp1973Asn)not specified [RCV004677227]uncertain significance154340740043407400Humanname
407461180CV3486912single nucleotide variantNM_001141980.3(TP53BP1):c.4345C>T (p.Pro1449Ser)not specified [RCV004687587]uncertain significance154342064143420641Humanname
597787426CV3611158single nucleotide variantNM_001141980.3(TP53BP1):c.5366C>G (p.Ala1789Gly)not specified [RCV004875599]uncertain significance154340968143409681Humanname
597787430CV3611159single nucleotide variantNM_001141980.3(TP53BP1):c.4453T>C (p.Ser1485Pro)not specified [RCV004875600]uncertain significance154342053343420533Humanname
597787438CV3611161single nucleotide variantNM_001141980.3(TP53BP1):c.3799G>A (p.Gly1267Arg)not specified [RCV004875602]uncertain significance154342804543428045Humanname
597787442CV3611162single nucleotide variantNM_001141980.3(TP53BP1):c.3334A>G (p.Met1112Val)not specified [RCV004875603]uncertain significance154343253543432535Humanname
597787453CV3611165single nucleotide variantNM_001141980.3(TP53BP1):c.4701G>T (p.Arg1567Ser)not specified [RCV004875606]uncertain significance154341639743416397Humanname
598188807CV3928232single nucleotide variantNM_001141980.3(TP53BP1):c.3267G>T (p.Arg1089Ser)not specified [RCV005287988]uncertain significance154343260243432602Humanname
598188814CV3928233single nucleotide variantNM_001141980.3(TP53BP1):c.3704C>G (p.Pro1235Arg)not specified [RCV005287989]uncertain significance154342814043428140Humanname
598188823CV3928234single nucleotide variantNM_001141980.3(TP53BP1):c.3235A>G (p.Lys1079Glu)not specified [RCV005287990]uncertain significance154343263443432634Humanname
15152936CV758712single nucleotide variantNM_001141980.3(TP53BP1):c.4196C>T (p.Thr1399Met)not provided [RCV000923968]likely benign154342107943421079Humanname
8627640CV82784single nucleotide variantNM_001141979.1(TP53BP1):c.3564T>A (p.Ser1188Arg)Malignant melanoma [RCV000062864]not provided154343230543432305Humanname
8635466CV90687single nucleotide variantNM_001141979.1(TP53BP1):c.4411C>T (p.Pro1471Ser)Malignant melanoma [RCV000070785]not provided154342057543420575Humanname
8635467CV90688single nucleotide variantNM_001141979.1(TP53BP1):c.3704C>T (p.Pro1235Leu)Malignant melanoma [RCV000070786]not provided154342814043428140Humanname