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96 records found for search term Otud4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8579268CV113666single nucleotide variantNM_001102653.1(OTUD4):c.146+278A>GLung cancer [RCV000094189]uncertain significance4145164873145164873Humanname
405274543CV3208920deletionNM_001366057.1(OTUD4):c.809-7_809-6delOTUD4-related disorder [RCV003951702]likely benign4145155481145155482Humanname , trait , alternate_id
405277459CV3195789single nucleotide variantNM_001366057.1(OTUD4):c.81C>T (p.Ala27=)OTUD4-related disorder [RCV003904321]likely benign4145179893145179893Humanname , trait , alternate_id
401928537CV2820195single nucleotide variantNM_001366057.1(OTUD4):c.456G>A (p.Val152=)OTUD4-related disorder [RCV003980925]|not provided [RCV003439506]benign|likely benign4145162680145162680Humanname , trait , alternate_id
401923523CV2820194single nucleotide variantNM_001366057.1(OTUD4):c.2649C>G (p.Pro883=)not provided [RCV003435174]likely benign4145138126145138126Humanname
598184187CV3995672single nucleotide variantNM_001366057.1(OTUD4):c.290C>A (p.Pro97Gln)not specified [RCV005395414]uncertain significance4145171674145171674Humanname
10403889CV207107single nucleotide variantNM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=)not provided [RCV000950127]|not specified [RCV000193649]benign|likely benign|uncertain significance4145137772145137772Humanname
156052228CV2238185single nucleotide variantNM_001366057.1(OTUD4):c.545G>A (p.Ser182Asn)not specified [RCV004111182]uncertain significance4145159587145159587Humanname
156127247CV2283775single nucleotide variantNM_001366057.1(OTUD4):c.832A>G (p.Ile278Val)not specified [RCV004142295]uncertain significance4145155452145155452Humanname
156254796CV2397583single nucleotide variantNM_001366057.1(OTUD4):c.853G>A (p.Glu285Lys)not specified [RCV004237043]uncertain significance4145155431145155431Humanname
401779879CV2725752single nucleotide variantNM_001366057.1(OTUD4):c.710A>G (p.Asn237Ser)not specified [RCV004322441]uncertain significance4145155667145155667Humanname
401928535CV2820193single nucleotide variantNM_001366057.1(OTUD4):c.3030C>T (p.Asn1010=)not provided [RCV003439505]likely benign4145137745145137745Humanname
405278381CV3221911single nucleotide variantNM_001366057.1(OTUD4):c.646G>A (p.Ala216Thr)OTUD4-related disorder [RCV003976460]benign4145155980145155980Humanname , trait , alternate_id
405785625CV3374534single nucleotide variantNM_001366057.1(OTUD4):c.556A>G (p.Met186Val)not specified [RCV004504747]uncertain significance4145159576145159576Humanname
405785630CV3374535single nucleotide variantNM_001366057.1(OTUD4):c.767A>G (p.Tyr256Cys)not specified [RCV004504748]uncertain significance4145155610145155610Humanname
405785635CV3374536single nucleotide variantNM_001366057.1(OTUD4):c.881T>G (p.Leu294Trp)not specified [RCV004504749]uncertain significance4145152628145152628Humanname
405785640CV3374537single nucleotide variantNM_001366057.1(OTUD4):c.985C>T (p.Leu329Phe)not specified [RCV004504750]uncertain significance4145150889145150889Humanname
407470038CV3459789single nucleotide variantNM_001366057.1(OTUD4):c.470A>G (p.Tyr157Cys)not specified [RCV004661926]uncertain significance4145162666145162666Humanname
407470049CV3459796single nucleotide variantNM_001366057.1(OTUD4):c.569C>T (p.Thr190Met)not specified [RCV004661929]uncertain significance4145159563145159563Humanname
597736663CV3567921single nucleotide variantNM_001366057.1(OTUD4):c.656A>C (p.Asp219Ala)not specified [RCV004843753]uncertain significance4145155970145155970Humanname
597656201CV3567923single nucleotide variantNM_001366057.1(OTUD4):c.541G>A (p.Val181Ile)not specified [RCV004827488]uncertain significance4145159591145159591Humanname
598222358CV3893869single nucleotide variantNM_001366057.1(OTUD4):c.463A>G (p.Ile155Val)not provided [RCV005257112]uncertain significance4145162673145162673Humanname
598162521CV3995670single nucleotide variantNM_001366057.1(OTUD4):c.377C>T (p.Ser126Phe)not specified [RCV005390829]uncertain significance4145164191145164191Humanname
13485417CV446883single nucleotide variantNM_001366057.1(OTUD4):c.821G>A (p.Arg274His)not specified [RCV000530760]uncertain significance4145155463145155463Humanname
13503555CV446884single nucleotide variantNM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly)not provided [RCV004691833]|not specified [RCV000543230]uncertain significance4145159551145159551Humanname
151733232CV1336517single nucleotide variantNM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg)Amenorrhea [RCV001849746]|not provided [RCV004693781]uncertain significance4145137782145137782Human2name
156398987CV2194910single nucleotide variantNM_001366057.1(OTUD4):c.2140A>G (p.Met714Val)not specified [RCV004075440]uncertain significance4145138635145138635Humanname
156240328CV2213604single nucleotide variantNM_001366057.1(OTUD4):c.1757C>T (p.Ala586Val)not specified [RCV004089690]uncertain significance4145142261145142261Humanname
156119757CV2219294single nucleotide variantNM_001366057.1(OTUD4):c.1240A>C (p.Thr414Pro)not specified [RCV004095163]uncertain significance4145150532145150532Humanname
156114563CV2268615single nucleotide variantNM_001366057.1(OTUD4):c.1909C>A (p.Pro637Thr)not specified [RCV004124025]uncertain significance4145141553145141553Humanname
155968046CV2277134single nucleotide variantNM_001366057.1(OTUD4):c.1898C>T (p.Ala633Val)not specified [RCV004142780]uncertain significance4145141564145141564Humanname
156275272CV2316442single nucleotide variantNM_001366057.1(OTUD4):c.2517G>T (p.Gln839His)not specified [RCV004169928]uncertain significance4145138258145138258Humanname
156060307CV2317043single nucleotide variantNM_001366057.1(OTUD4):c.2534A>G (p.Asn845Ser)not specified [RCV004174535]uncertain significance4145138241145138241Humanname
156361782CV2322856single nucleotide variantNM_001366057.1(OTUD4):c.1500A>C (p.Arg500Ser)not specified [RCV004185315]uncertain significance4145144357145144357Humanname
156061538CV2323178single nucleotide variantNM_001366057.1(OTUD4):c.1151C>A (p.Pro384His)not specified [RCV004187579]uncertain significance4145150621145150621Humanname
155920444CV2343353single nucleotide variantNM_001366057.1(OTUD4):c.1514G>A (p.Arg505Gln)not specified [RCV004194967]uncertain significance4145144343145144343Humanname
156015095CV2360222single nucleotide variantNM_001366057.1(OTUD4):c.2815C>A (p.Gln939Lys)not specified [RCV004208570]uncertain significance4145137960145137960Humanname
156335872CV2360573single nucleotide variantNM_001366057.1(OTUD4):c.1490T>C (p.Val497Ala)not specified [RCV004211330]uncertain significance4145144367145144367Humanname
155930394CV2361136single nucleotide variantNM_001366057.1(OTUD4):c.1178C>G (p.Ser393Cys)not specified [RCV004216326]uncertain significance4145150594145150594Humanname
155998674CV2373323single nucleotide variantNM_001366057.1(OTUD4):c.2738C>T (p.Pro913Leu)not specified [RCV004220033]uncertain significance4145138037145138037Humanname
155994496CV2377528single nucleotide variantNM_001366057.1(OTUD4):c.2806C>T (p.Arg936Trp)not specified [RCV004225684]uncertain significance4145137969145137969Humanname
156222985CV2394804single nucleotide variantNM_001366057.1(OTUD4):c.1103G>T (p.Ser368Ile)not specified [RCV004234471]uncertain significance4145150669145150669Humanname
155909842CV2395371single nucleotide variantNM_001366057.1(OTUD4):c.1556A>G (p.His519Arg)not specified [RCV004239462]uncertain significance4145143992145143992Humanname
329359598CV2446343single nucleotide variantNM_001366057.1(OTUD4):c.2443G>C (p.Glu815Gln)not specified [RCV004249471]uncertain significance4145138332145138332Humanname
329370374CV2461695single nucleotide variantNM_001366057.1(OTUD4):c.2324G>A (p.Ser775Asn)not specified [RCV004269850]uncertain significance4145138451145138451Humanname
401745938CV2693381single nucleotide variantNM_001366057.1(OTUD4):c.2876G>A (p.Gly959Glu)not specified [RCV004295339]uncertain significance4145137899145137899Humanname
401763538CV2714587single nucleotide variantNM_001366057.1(OTUD4):c.1646A>C (p.Lys549Thr)not specified [RCV004318095]uncertain significance4145143402145143402Humanname
401890176CV2763671single nucleotide variantNM_001366057.1(OTUD4):c.2378C>G (p.Pro793Arg)not specified [RCV004343174]uncertain significance4145138397145138397Humanname
405279906CV3191532single nucleotide variantNM_001366057.1(OTUD4):c.1699G>A (p.Val567Met)OTUD4-related disorder [RCV003919683]likely benign4145142319145142319Humanname , trait , alternate_id
405281684CV3224274single nucleotide variantNM_001366057.1(OTUD4):c.1361A>G (p.Glu454Gly)Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV003988656]not provided4145146328145146328Humanname
405785557CV3374520single nucleotide variantNM_001366057.1(OTUD4):c.1447T>G (p.Ser483Ala)not specified [RCV004504733]uncertain significance4145144410145144410Humanname
405785562CV3374521single nucleotide variantNM_001366057.1(OTUD4):c.1519A>C (p.Met507Leu)not specified [RCV004504734]uncertain significance4145144338145144338Humanname
405785567CV3374522single nucleotide variantNM_001366057.1(OTUD4):c.1594A>G (p.Thr532Ala)not specified [RCV004504735]uncertain significance4145143954145143954Humanname
405785576CV3374524single nucleotide variantNM_001366057.1(OTUD4):c.1631T>C (p.Val544Ala)not specified [RCV004504737]uncertain significance4145143417145143417Humanname
405785582CV3374525single nucleotide variantNM_001366057.1(OTUD4):c.2164T>C (p.Tyr722His)not specified [RCV004504738]uncertain significance4145138611145138611Humanname
405785587CV3374526single nucleotide variantNM_001366057.1(OTUD4):c.2360C>T (p.Pro787Leu)not specified [RCV004504739]uncertain significance4145138415145138415Humanname
405785592CV3374527single nucleotide variantNM_001366057.1(OTUD4):c.2447C>T (p.Ser816Phe)not specified [RCV004504740]uncertain significance4145138328145138328Humanname
405785596CV3374528single nucleotide variantNM_001366057.1(OTUD4):c.2451G>C (p.Glu817Asp)not specified [RCV004504741]uncertain significance4145138324145138324Humanname
405785601CV3374529single nucleotide variantNM_001366057.1(OTUD4):c.2707T>G (p.Cys903Gly)not specified [RCV004504742]uncertain significance4145138068145138068Humanname
407517304CV3459790single nucleotide variantNM_001366057.1(OTUD4):c.2498G>A (p.Gly833Asp)not specified [RCV004650559]uncertain significance4145138277145138277Humanname
407517145CV3459792single nucleotide variantNM_001366057.1(OTUD4):c.1254C>G (p.Ile418Met)not specified [RCV004650561]uncertain significance4145150518145150518Humanname
407470041CV3459793single nucleotide variantNM_001366057.1(OTUD4):c.2480A>T (p.Tyr827Phe)not specified [RCV004661927]uncertain significance4145138295145138295Humanname
407517148CV3459794single nucleotide variantNM_001366057.1(OTUD4):c.1944C>G (p.Asn648Lys)not specified [RCV004650562]uncertain significance4145141518145141518Humanname
407470044CV3459795single nucleotide variantNM_001366057.1(OTUD4):c.1492G>A (p.Gly498Ser)not specified [RCV004661928]likely benign4145144365145144365Humanname
407517151CV3459797single nucleotide variantNM_001366057.1(OTUD4):c.2795C>G (p.Pro932Arg)not specified [RCV004650563]uncertain significance4145137980145137980Humanname
597736667CV3567924single nucleotide variantNM_001366057.1(OTUD4):c.2581G>A (p.Val861Ile)not specified [RCV004843754]uncertain significance4145138194145138194Humanname
597736672CV3567925single nucleotide variantNM_001366057.1(OTUD4):c.2095C>T (p.Leu699Phe)not specified [RCV004843755]uncertain significance4145139980145139980Humanname
597736677CV3567926single nucleotide variantNM_001366057.1(OTUD4):c.2455C>T (p.Pro819Ser)not specified [RCV004843756]likely benign4145138320145138320Humanname
597736682CV3567927single nucleotide variantNM_001366057.1(OTUD4):c.1614T>A (p.Asp538Glu)not specified [RCV004843757]uncertain significance4145143434145143434Humanname
597736686CV3567928single nucleotide variantNM_001366057.1(OTUD4):c.1924G>A (p.Val642Met)not specified [RCV004843758]uncertain significance4145141538145141538Humanname
597736692CV3567929single nucleotide variantNM_001366057.1(OTUD4):c.1883C>T (p.Ser628Leu)not specified [RCV004843759]uncertain significance4145141579145141579Humanname
597736698CV3567930single nucleotide variantNM_001366057.1(OTUD4):c.2557A>G (p.Ile853Val)not specified [RCV004843760]uncertain significance4145138218145138218Humanname
597736701CV3567931single nucleotide variantNM_001366057.1(OTUD4):c.1369C>T (p.Arg457Cys)not specified [RCV004843761]uncertain significance4145146320145146320Humanname
597736705CV3567932single nucleotide variantNM_001366057.1(OTUD4):c.1009T>C (p.Trp337Arg)not specified [RCV004843762]uncertain significance4145150865145150865Humanname
597656208CV3567934single nucleotide variantNM_001366057.1(OTUD4):c.1261A>G (p.Lys421Glu)not specified [RCV004827489]uncertain significance4145146428145146428Humanname
597736715CV3567935single nucleotide variantNM_001366057.1(OTUD4):c.1217G>T (p.Ser406Ile)not specified [RCV004843764]uncertain significance4145150555145150555Humanname
597736719CV3567936single nucleotide variantNM_001366057.1(OTUD4):c.1804A>G (p.Thr602Ala)not specified [RCV004843765]uncertain significance4145142214145142214Humanname
598184181CV3995663single nucleotide variantNM_001366057.1(OTUD4):c.2042C>A (p.Pro681Gln)not specified [RCV005395413]uncertain significance4145141420145141420Humanname
598162483CV3995664single nucleotide variantNM_001366057.1(OTUD4):c.2884C>T (p.His962Tyr)not specified [RCV005390823]uncertain significance4145137891145137891Humanname
598162490CV3995665single nucleotide variantNM_001366057.1(OTUD4):c.1513C>T (p.Arg505Trp)not specified [RCV005390824]uncertain significance4145144344145144344Humanname
598162498CV3995666single nucleotide variantNM_001366057.1(OTUD4):c.2030G>A (p.Arg677Gln)not specified [RCV005390825]uncertain significance4145141432145141432Humanname
598162505CV3995667single nucleotide variantNM_001366057.1(OTUD4):c.1199A>G (p.Gln400Arg)not specified [RCV005390826]uncertain significance4145150573145150573Humanname
598162510CV3995668single nucleotide variantNM_001366057.1(OTUD4):c.2761C>T (p.His921Tyr)not specified [RCV005390827]uncertain significance4145138014145138014Humanname
598162516CV3995669single nucleotide variantNM_001366057.1(OTUD4):c.1052C>G (p.Ser351Cys)not specified [RCV005390828]uncertain significance4145150822145150822Humanname
598162526CV3995671single nucleotide variantNM_001366057.1(OTUD4):c.2708G>A (p.Cys903Tyr)not specified [RCV005390830]uncertain significance4145138067145138067Humanname
8611984CV65577single nucleotide variantNM_001366057.1(OTUD4):c.1193G>T (p.Gly398Val)Variant of unknown significance [RCV000043630]|not provided [RCV004691732]uncertain significance4145150579145150579Humanname
8638992CV94219single nucleotide variantNM_001102653.1(OTUD4):c.2944T>C (p.Tyr982His)Malignant melanoma [RCV000074327]not provided4145137636145137636Humanname
156307687CV2252874single nucleotide variantNM_001366057.1(OTUD4):c.3315G>A (p.Met1105Ile)not specified [RCV004120479]uncertain significance4145137460145137460Humanname
156203017CV2313269single nucleotide variantNM_001366057.1(OTUD4):c.2999C>T (p.Thr1000Ile)not specified [RCV004161517]uncertain significance4145137776145137776Humanname
156355016CV2324398single nucleotide variantNM_001366057.1(OTUD4):c.3058A>G (p.Lys1020Glu)not specified [RCV004178893]uncertain significance4145137717145137717Humanname
405785606CV3374530single nucleotide variantNM_001366057.1(OTUD4):c.2999C>A (p.Thr1000Asn)not specified [RCV004504743]uncertain significance4145137776145137776Humanname
405785611CV3374531single nucleotide variantNM_001366057.1(OTUD4):c.3092C>G (p.Ser1031Cys)not specified [RCV004504744]uncertain significance4145137683145137683Humanname
405785615CV3374532single nucleotide variantNM_001366057.1(OTUD4):c.3206G>A (p.Ser1069Asn)not specified [RCV004504745]uncertain significance4145137569145137569Humanname
405785620CV3374533single nucleotide variantNM_001366057.1(OTUD4):c.3241C>T (p.Arg1081Trp)not specified [RCV004504746]uncertain significance4145137534145137534Humanname
407517211CV3459791single nucleotide variantNM_001366057.1(OTUD4):c.3128A>G (p.Tyr1043Cys)not specified [RCV004650560]uncertain significance4145137647145137647Humanname
597736709CV3567933single nucleotide variantNM_001366057.1(OTUD4):c.3001G>C (p.Ala1001Pro)not specified [RCV004843763]uncertain significance4145137774145137774Humanname