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


115 records found for search term Trim71
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598126495CV3881944single nucleotide variantNM_001039111.3(TRIM71):c.*3496T>Cnot provided [RCV005233496]uncertain significance33289530732895307Humanname
15198578CV730209single nucleotide variantNM_001039111.3(TRIM71):c.853-7T>Cnot provided [RCV000890399]benign33287381132873811Humanname
8578625CV113010single nucleotide variantNM_001039111.1(TRIM71):c.852+11233C>ALung cancer [RCV000093533]uncertain significance33283016532830165Humanname
8578626CV113011single nucleotide variantNM_001039111.1(TRIM71):c.1021-5284T>ALung cancer [RCV000093534]uncertain significance33288065032880650Humanname
405271823CV3202960single nucleotide variantNM_001039111.3(TRIM71):c.99G>C (p.Ser33=)TRIM71-related disorder [RCV003914017]likely benign33281817932818179Humanname , trait , alternate_id
401775528CV2710602single nucleotide variantNM_001039111.3(TRIM71):c.13C>G (p.Pro5Ala)not specified [RCV004319518]uncertain significance33281809332818093Humanname
407454149CV3490718single nucleotide variantNM_001039111.3(TRIM71):c.14C>G (p.Pro5Arg)not specified [RCV004684843]uncertain significance33281809432818094Humanname
15178387CV720404single nucleotide variantNM_001039111.3(TRIM71):c.237C>T (p.Gly79=)not provided [RCV000885050]likely benign33281831732818317Humanname
401922177CV2827235single nucleotide variantNM_001039111.3(TRIM71):c.771G>A (p.Gly257=)TRIM71-related disorder [RCV003954178]|not provided [RCV003433509]likely benign33281885132818851Human1name , trait , alternate_id
401926291CV2827236single nucleotide variantNM_001039111.3(TRIM71):c.948G>A (p.Glu316=)not provided [RCV003437743]benign|likely benign33287391332873913Humanname
405262030CV3219983single nucleotide variantNM_001039111.3(TRIM71):c.339C>T (p.Ala113=)TRIM71-related disorder [RCV003967135]likely benign33281841932818419Humanname , trait , alternate_id
407454148CV3490717single nucleotide variantNM_001039111.3(TRIM71):c.31A>G (p.Ile11Val)not provided [RCV005409982]|not specified [RCV004684842]uncertain significance33281811132818111Humanname
151662404CV1333090single nucleotide variantNM_001039111.3(TRIM71):c.199C>A (p.Arg67Ser)Hydrocephalus, congenital communicating, 1 [RCV001837323]|not specified [RCV004041025]uncertain significance33281827932818279Human1name
156276790CV2276886single nucleotide variantNM_001039111.3(TRIM71):c.230C>G (p.Ala77Gly)not specified [RCV004140228]uncertain significance33281831032818310Humanname
401736218CV2688733single nucleotide variantNM_001039111.3(TRIM71):c.119C>T (p.Thr40Met)not specified [RCV004303765]uncertain significance33281819932818199Humanname
401858191CV2750579single nucleotide variantNM_001039111.3(TRIM71):c.1959C>T (p.Phe653=)not provided [RCV003334252]likely benign33289116332891163Humanname
401922178CV2827237single nucleotide variantNM_001039111.3(TRIM71):c.2145G>A (p.Leu715=)not provided [RCV003433510]likely benign33289134932891349Humanname
405273923CV3198306single nucleotide variantNM_001039111.3(TRIM71):c.1557A>T (p.Ser519=)TRIM71-related disorder [RCV003902074]likely benign33289076132890761Humanname , trait , alternate_id
405282230CV3216286single nucleotide variantNM_001039111.3(TRIM71):c.1452C>G (p.Ala484=)TRIM71-related disorder [RCV003956796]|not provided [RCV005242519]likely benign33289065632890656Human1name , trait , alternate_id
408365771CV3510347single nucleotide variantNM_001039111.3(TRIM71):c.1563C>T (p.Gly521=)TRIM71-related disorder [RCV004755285]likely benign33289076732890767Humanname , trait , alternate_id
408366074CV3513706single nucleotide variantNM_001039111.3(TRIM71):c.2115T>C (p.Asp705=)TRIM71-related disorder [RCV004755491]likely benign33289131932891319Humanname , trait , alternate_id
597802360CV3614595single nucleotide variantNM_001039111.3(TRIM71):c.269G>A (p.Arg90His)not specified [RCV004881192]uncertain significance33281834932818349Humanname
597802364CV3614597single nucleotide variantNM_001039111.3(TRIM71):c.256C>T (p.Pro86Ser)not specified [RCV004881194]uncertain significance33281833632818336Humanname
15183855CV708786single nucleotide variantNM_001039111.3(TRIM71):c.2433G>A (p.Ala811=)not provided [RCV000974972]benign33289163732891637Humanname
15120362CV748204single nucleotide variantNM_001039111.3(TRIM71):c.2310G>T (p.Arg770=)not provided [RCV000918309]likely benign33289151432891514Humanname
8630771CV85926single nucleotide variantNM_001039111.1(TRIM71):c.1176G>A (p.Val392=)Malignant melanoma [RCV000066010]not provided33289038032890380Humanname
42724429CV984052single nucleotide variantNM_001039111.3(TRIM71):c.248C>T (p.Ala83Val)Cryptozoospermia [RCV001290747]uncertain significance33281832832818328Human2name
156230498CV2235062single nucleotide variantNM_001039111.3(TRIM71):c.563C>A (p.Pro188Gln)not specified [RCV004113244]uncertain significance33281864332818643Humanname
156067683CV2320273single nucleotide variantNM_001039111.3(TRIM71):c.622G>A (p.Ala208Thr)not specified [RCV004178442]uncertain significance33281870232818702Humanname
156364077CV2341802single nucleotide variantNM_001039111.3(TRIM71):c.455A>C (p.His152Pro)not specified [RCV004184759]uncertain significance33281853532818535Humanname
329363427CV2446094single nucleotide variantNM_001039111.3(TRIM71):c.583C>A (p.Arg195Ser)not provided [RCV005412525]|not specified [RCV004270650]uncertain significance33281866332818663Humanname
329356814CV2460569single nucleotide variantNM_001039111.3(TRIM71):c.967G>A (p.Ala323Thr)not specified [RCV004268846]uncertain significance33287393232873932Humanname
401740230CV2683297single nucleotide variantNM_001039111.3(TRIM71):c.737G>C (p.Gly246Ala)not specified [RCV004288078]likely benign33281881732818817Humanname
401888676CV2758036single nucleotide variantNM_001039111.3(TRIM71):c.485C>T (p.Ala162Val)not specified [RCV004339202]uncertain significance33281856532818565Humanname
405268898CV3201198single nucleotide variantNM_001039111.3(TRIM71):c.707A>G (p.His236Arg)TRIM71-related disorder [RCV003899304]likely pathogenic33281878732818787Humanname , trait , alternate_id
405797472CV3347266single nucleotide variantNM_001039111.3(TRIM71):c.374C>T (p.Ala125Val)not specified [RCV004476191]uncertain significance33281845432818454Humanname
405797475CV3347267single nucleotide variantNM_001039111.3(TRIM71):c.458C>T (p.Ala153Val)not specified [RCV004476192]uncertain significance33281853832818538Humanname
405797478CV3347268single nucleotide variantNM_001039111.3(TRIM71):c.776C>G (p.Pro259Arg)not specified [RCV004476193]uncertain significance33281885632818856Humanname
407454151CV3490720single nucleotide variantNM_001039111.3(TRIM71):c.600C>G (p.Ser200Arg)not specified [RCV004684845]uncertain significance33281868032818680Humanname
407461604CV3490721single nucleotide variantNM_001039111.3(TRIM71):c.913C>T (p.Arg305Trp)not specified [RCV004687688]uncertain significance33287387832873878Humanname
407461608CV3490722single nucleotide variantNM_001039111.3(TRIM71):c.823C>T (p.Leu275Phe)not specified [RCV004687689]uncertain significance33281890332818903Humanname
407454152CV3490723single nucleotide variantNM_001039111.3(TRIM71):c.447C>G (p.His149Gln)not specified [RCV004684846]uncertain significance33281852732818527Humanname
407454154CV3490725single nucleotide variantNM_001039111.3(TRIM71):c.572T>A (p.Leu191Gln)not specified [RCV004684848]uncertain significance33281865232818652Humanname
408388097CV3520638single nucleotide variantNM_001039111.3(TRIM71):c.508G>C (p.Ala170Pro)not provided [RCV004761471]uncertain significance33281858832818588Humanname
596930069CV3531337single nucleotide variantNM_001039111.3(TRIM71):c.617A>G (p.Asn206Ser)not provided [RCV004779911]uncertain significance33281869732818697Humanname
597802366CV3614598single nucleotide variantNM_001039111.3(TRIM71):c.811T>G (p.Phe271Val)not specified [RCV004881195]uncertain significance33281889132818891Humanname
597802372CV3614601single nucleotide variantNM_001039111.3(TRIM71):c.663C>A (p.Asp221Glu)not specified [RCV004881198]uncertain significance33281874332818743Humanname
597802376CV3614603single nucleotide variantNM_001039111.3(TRIM71):c.550C>A (p.Pro184Thr)not specified [RCV004881200]uncertain significance33281863032818630Humanname
597802378CV3614604single nucleotide variantNM_001039111.3(TRIM71):c.727C>T (p.Pro243Ser)not specified [RCV004881201]uncertain significance33281880732818807Humanname
597802380CV3614605single nucleotide variantNM_001039111.3(TRIM71):c.896G>A (p.Arg299His)not specified [RCV004881202]uncertain significance33287386132873861Humanname
597802381CV3614606single nucleotide variantNM_001039111.3(TRIM71):c.728C>T (p.Pro243Leu)not specified [RCV004881203]uncertain significance33281880832818808Humanname
598172358CV3935696single nucleotide variantNM_001039111.3(TRIM71):c.446A>C (p.His149Pro)Hydrocephalus, congenital communicating, 1 [RCV005393028]|not specified [RCV005303921]likely benign|uncertain significance33281852632818526Human1name
598274426CV3935697single nucleotide variantNM_001039111.3(TRIM71):c.496C>T (p.Pro166Ser)not specified [RCV005303922]uncertain significance33281857632818576Humanname
598274428CV3935698single nucleotide variantNM_001039111.3(TRIM71):c.767T>G (p.Leu256Arg)not specified [RCV005303923]uncertain significance33281884732818847Humanname
598274431CV3935699single nucleotide variantNM_001039111.3(TRIM71):c.781C>T (p.Pro261Ser)not specified [RCV005303924]uncertain significance33281886132818861Humanname
598274433CV3935700single nucleotide variantNM_001039111.3(TRIM71):c.399G>C (p.Lys133Asn)not specified [RCV005303925]uncertain significance33281847932818479Humanname
598274438CV3935702single nucleotide variantNM_001039111.3(TRIM71):c.403G>A (p.Gly135Arg)not specified [RCV005303927]uncertain significance33281848332818483Humanname
42724430CV984053single nucleotide variantNM_001039111.3(TRIM71):c.368T>C (p.Val123Ala)Cryptozoospermia [RCV001290748]uncertain significance33281844832818448Human2name
42724431CV984054single nucleotide variantNM_001039111.3(TRIM71):c.553G>T (p.Ala185Ser)Hydrocephalus, congenital communicating, 1 [RCV005394905]|Non-obstructive azoospermia [RCV001290749]|not provided [RCV004711570]benign|likely benign|uncertain significance33281863332818633Human3name
42724432CV984055single nucleotide variantNM_001039111.3(TRIM71):c.785G>C (p.Gly262Ala)Non-obstructive azoospermia [RCV001290750]likely benign|uncertain significance33281886532818865Human2name
42724433CV984056single nucleotide variantNM_001039111.3(TRIM71):c.803T>A (p.Leu268His)Non-obstructive azoospermia [RCV001290751]uncertain significance33281888332818883Human2name
151663426CV1333948single nucleotide variantNM_001039111.3(TRIM71):c.1110G>C (p.Arg370Ser)Hydrocephalus, congenital communicating, 1 [RCV001839122]uncertain significance33288602332886023Human1name
152979278CV1675453single nucleotide variantNM_001039111.3(TRIM71):c.2129C>G (p.Ser710Cys)Hydrocephalus, congenital communicating, 1 [RCV002243564]uncertain significance33289133332891333Human1name
153301061CV1688903single nucleotide variantNM_001039111.3(TRIM71):c.2329G>A (p.Asp777Asn)Hydrocephalus, congenital communicating, 1 [RCV002266631]uncertain significance33289153332891533Human1name
153348646CV1692690single nucleotide variantNM_001039111.3(TRIM71):c.1906T>C (p.Cys636Arg)not provided [RCV002274545]uncertain significance33289111032891110Humanname
155915052CV2242902single nucleotide variantNM_001039111.3(TRIM71):c.2372A>G (p.Asn791Ser)not specified [RCV004107491]uncertain significance33289157632891576Humanname
155932697CV2290824single nucleotide variantNM_001039111.3(TRIM71):c.1049C>T (p.Ala350Val)not specified [RCV004149324]uncertain significance33288596232885962Humanname
156164030CV2305549single nucleotide variantNM_001039111.3(TRIM71):c.1070C>G (p.Ala357Gly)not specified [RCV004165249]uncertain significance33288598332885983Humanname
156049720CV2315875single nucleotide variantNM_001039111.3(TRIM71):c.1117A>C (p.Lys373Gln)not specified [RCV004171651]uncertain significance33288603032886030Humanname
156065195CV2317746single nucleotide variantNM_001039111.3(TRIM71):c.1766T>C (p.Ile589Thr)not specified [RCV004175001]uncertain significance33289097032890970Humanname
156192296CV2336016single nucleotide variantNM_001039111.3(TRIM71):c.1343G>A (p.Arg448Gln)not specified [RCV004189621]uncertain significance33289054732890547Humanname
156340343CV2347859single nucleotide variantNM_001039111.3(TRIM71):c.2348T>C (p.Phe783Ser)not specified [RCV004195510]uncertain significance33289155232891552Humanname
156434633CV2403018single nucleotide variantNM_001039111.3(TRIM71):c.1135G>A (p.Glu379Lys)not provided [RCV003126974]uncertain significance33288604832886048Humanname
329400178CV2440503single nucleotide variantNM_001039111.3(TRIM71):c.1658G>A (p.Arg553Gln)not specified [RCV004256426]uncertain significance33289086232890862Humanname
329365404CV2444849single nucleotide variantNM_001039111.3(TRIM71):c.1007G>A (p.Arg336Gln)not specified [RCV004259088]uncertain significance33287397232873972Humanname
329952979CV2669688single nucleotide variantNM_001039111.3(TRIM71):c.1534C>G (p.His512Asp)not provided [RCV003234312]uncertain significance33289073832890738Humanname
401758025CV2731637single nucleotide variantNM_001039111.3(TRIM71):c.1946G>A (p.Arg649Gln)not specified [RCV004331744]uncertain significance33289115032891150Humanname
401898910CV2792110single nucleotide variantNM_001039111.3(TRIM71):c.1221C>A (p.Asn407Lys)not specified [RCV004361335]uncertain significance33289042532890425Humanname
401920089CV2796403single nucleotide variantNM_001039111.3(TRIM71):c.2379G>T (p.Gln793His)TRIM71-related disorder [RCV003402455]uncertain significance33289158332891583Humanname , trait , alternate_id
405797456CV3347260single nucleotide variantNM_001039111.3(TRIM71):c.1062G>C (p.Glu354Asp)not specified [RCV004476185]uncertain significance33288597532885975Humanname
405797459CV3347261single nucleotide variantNM_001039111.3(TRIM71):c.1240A>T (p.Thr414Ser)not specified [RCV004476186]uncertain significance33289044432890444Humanname
405797465CV3347263single nucleotide variantNM_001039111.3(TRIM71):c.1777G>A (p.Gly593Ser)not specified [RCV004476188]uncertain significance33289098132890981Humanname
405797466CV3347264single nucleotide variantNM_001039111.3(TRIM71):c.2042C>T (p.Thr681Met)not specified [RCV004476189]uncertain significance33289124632891246Humanname
405797469CV3347265single nucleotide variantNM_001039111.3(TRIM71):c.2219A>G (p.Glu740Gly)not specified [RCV004476190]uncertain significance33289142332891423Humanname
407454150CV3490719single nucleotide variantNM_001039111.3(TRIM71):c.1858A>T (p.Ile620Phe)not specified [RCV004684844]uncertain significance33289106232891062Humanname
407508259CV3496349single nucleotide variantNM_001039111.3(TRIM71):c.1387C>T (p.Pro463Ser)not provided [RCV004698190]uncertain significance33289059132890591Humanname
407572735CV3497224single nucleotide variantNM_001039111.3(TRIM71):c.2251C>G (p.Arg751Gly)not provided [RCV004699044]uncertain significance33289145532891455Humanname
408365796CV3510731single nucleotide variantNM_001039111.3(TRIM71):c.1075G>C (p.Val359Leu)TRIM71-related disorder [RCV004755308]uncertain significance33288598832885988Humanname , trait , alternate_id
408366251CV3516910single nucleotide variantNM_001039111.3(TRIM71):c.1373G>A (p.Arg458Gln)TRIM71-related disorder [RCV004755691]likely benign33289057732890577Humanname , trait , alternate_id
408393848CV3519957single nucleotide variantNM_001039111.3(TRIM71):c.2323C>G (p.His775Asp)not provided [RCV004764253]uncertain significance33289152732891527Humanname
408389483CV3523051single nucleotide variantNM_001039111.3(TRIM71):c.2374G>C (p.Gly792Arg)not provided [RCV004769432]uncertain significance33289157832891578Humanname
597802358CV3614594single nucleotide variantNM_001039111.3(TRIM71):c.1298C>T (p.Ala433Val)not specified [RCV004881191]uncertain significance33289050232890502Humanname
597802362CV3614596single nucleotide variantNM_001039111.3(TRIM71):c.1463A>G (p.Lys488Arg)not specified [RCV004881193]uncertain significance33289066732890667Humanname
597802368CV3614599single nucleotide variantNM_001039111.3(TRIM71):c.2344C>T (p.Arg782Cys)not specified [RCV004881196]uncertain significance33289154832891548Humanname
597802370CV3614600single nucleotide variantNM_001039111.3(TRIM71):c.1448T>C (p.Phe483Ser)not specified [RCV004881197]uncertain significance33289065232890652Humanname
597802374CV3614602single nucleotide variantNM_001039111.3(TRIM71):c.1705C>G (p.Gln569Glu)not specified [RCV004881199]uncertain significance33289090932890909Humanname
598200729CV3892697single nucleotide variantNM_001039111.3(TRIM71):c.2137A>C (p.Lys713Gln)not provided [RCV005254530]uncertain significance33289134132891341Humanname
598274435CV3935701single nucleotide variantNM_001039111.3(TRIM71):c.2325C>G (p.His775Gln)not specified [RCV005303926]uncertain significance33289152932891529Humanname
598188561CV4008598single nucleotide variantNM_001039111.3(TRIM71):c.1601A>G (p.Asn534Ser)Hydrocephalus, congenital communicating, 1 [RCV005396097]uncertain significance33289080532890805Human1name
14746928CV672222single nucleotide variantNM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)Congenital hydrocephalus [RCV000845205]likely pathogenic33289109032891090Human1name
14746927CV672223single nucleotide variantNM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)Congenital hydrocephalus [RCV000845204]|Hydrocephalus, congenital communicating, 1 [RCV001809862]likely pathogenic|uncertain significance33289165432891654Human2name
15174223CV679052single nucleotide variantNM_001039111.3(TRIM71):c.1444G>T (p.Ala482Ser)Esophageal atresia [RCV000984766]uncertain significance33289064832890648Human1name
15040252CV682667single nucleotide variantNM_001039111.3(TRIM71):c.1823G>A (p.Arg608His)Hydrocephalus, congenital communicating, 1 [RCV000856614]pathogenic33289102732891027Human1name
15040253CV682668single nucleotide variantNM_001039111.3(TRIM71):c.2387G>A (p.Arg796His)Hydrocephalus, congenital communicating, 1 [RCV000856615]pathogenic33289159132891591Human1name
42724434CV984057single nucleotide variantNM_001039111.3(TRIM71):c.1070C>T (p.Ala357Val)Cryptozoospermia [RCV001290752]uncertain significance33288598332885983Human2name
42724435CV984058single nucleotide variantNM_001039111.3(TRIM71):c.1486C>T (p.Arg496Cys)Non-obstructive azoospermia [RCV001290753]uncertain significance33289069032890690Human2name
42724436CV984059single nucleotide variantNM_001039111.3(TRIM71):c.1549C>T (p.Arg517Cys)Non-obstructive azoospermia [RCV001290754]|not provided [RCV004692408]uncertain significance33289075332890753Human2name
42724437CV984060single nucleotide variantNM_001039111.3(TRIM71):c.1613C>G (p.Ala538Gly)Non-obstructive azoospermia [RCV001290755]uncertain significance33289081732890817Human2name
42724438CV984061single nucleotide variantNM_001039111.3(TRIM71):c.1789G>A (p.Gly597Ser)Hydrocephalus, congenital communicating, 1 [RCV003246835]|Non-obstructive azoospermia [RCV001290756]|not provided [RCV004692409]likely benign|conflicting interpretations of pathogenicity|uncertain significance33289099332890993Human3name
42724428CV984051duplicationNM_001039111.3(TRIM71):c.224_240dup (p.Gly81fs)Non-obstructive azoospermia [RCV001290746]likely pathogenic33281829932818300Human2name
155642509CV1707443duplicationNM_001039111.3(TRIM71):c.416_423dup (p.Gly142fs)Hydrocephalus, congenital communicating, 1 [RCV002288373]uncertain significance33281848932818490Human1name
617153060CV4021031deletionNM_001039111.3(TRIM71):c.459_467del (p.152HAH[1])not provided [RCV005428784]likely benign33281853132818539Humanname
155798224CV1860621deletionNM_001039111.3(TRIM71):c.1564_1577del (p.Asp522fs)not provided [RCV002467263]uncertain significance33289076532890778Humanname
405270485CV3211411deletionNM_001039111.3(TRIM71):c.2598_2602del (p.Val867fs)TRIM71-related disorder [RCV003949305]uncertain significance33289180032891804Humanname , trait , alternate_id
598188568CV4008599microsatelliteNM_001039111.3(TRIM71):c.761TCGGGC[1] (p.254LG[1])Hydrocephalus, congenital communicating, 1 [RCV005396098]uncertain significance33281883932818844Humanname