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


208 records found for search term Stx3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151872896CV1339797single nucleotide variantNM_004177.5(STX3):c.30+1G>Tnot provided [RCV002035903]likely pathogenic115975563659755636Humanname
127234383CV1100067single nucleotide variantNM_004177.5(STX3):c.358-4A>Gnot provided [RCV001422033]likely benign115979210359792103Humanname
150338302CV1173961single nucleotide variantNM_004177.5(STX3):c.115-2A>GRetinal dystrophy and microvillus inclusion disease [RCV001542246]pathogenic115978703559787035Human1name
152059299CV1539221single nucleotide variantNM_004177.5(STX3):c.30+17G>Anot provided [RCV002073480]likely benign115975565259755652Humanname
152144012CV1582456single nucleotide variantNM_004177.5(STX3):c.676-4G>Anot provided [RCV002200957]likely benign115979536859795368Humanname
152033000CV1610260single nucleotide variantNM_004177.5(STX3):c.30+12C>Tnot provided [RCV002124854]benign115975564759755647Humanname
152058740CV1644638single nucleotide variantNM_004177.5(STX3):c.30+12C>Anot provided [RCV002167751]likely benign115975564759755647Humanname
152160223CV1651901single nucleotide variantNM_004177.5(STX3):c.289+8G>Tnot provided [RCV002180802]likely benign115978895559788955Humanname
152115607CV1654142single nucleotide variantNM_004177.5(STX3):c.786+7C>Anot provided [RCV002097438]likely benign115979548959795489Humanname
156249306CV2174494single nucleotide variantNM_004177.5(STX3):c.115-3T>Cnot provided [RCV003043730]uncertain significance115978703459787034Humanname
405112480CV2900487single nucleotide variantNM_004177.5(STX3):c.115-7A>Gnot provided [RCV003558073]likely benign115978703059787030Humanname
402494830CV3004991single nucleotide variantNM_004177.5(STX3):c.30+10G>Anot provided [RCV003687905]likely benign115975564559755645Humanname
405082232CV3016999single nucleotide variantNM_004177.5(STX3):c.357+8T>Anot provided [RCV003699131]likely benign115979059459790594Humanname
405054827CV3138515single nucleotide variantNM_004177.5(STX3):c.30+12C>Gnot provided [RCV003832359]likely benign115975564759755647Humanname
405239800CV3166021single nucleotide variantNM_004177.5(STX3):c.30+13G>Tnot provided [RCV003867033]likely benign115975564859755648Humanname
404997112CV3172941single nucleotide variantNM_004177.5(STX3):c.540+9C>Anot provided [RCV003882223]likely benign115979318159793181Humanname
597940820CV3789077single nucleotide variantNM_004177.5(STX3):c.31-16T>Anot provided [RCV005133540]likely benign115977319559773195Humanname
597876923CV3813293single nucleotide variantNM_004177.5(STX3):c.358-7C>Tnot provided [RCV005149229]likely benign115979210059792100Humanname
597942652CV3816295single nucleotide variantNM_004177.5(STX3):c.30+20G>Cnot provided [RCV005159356]likely benign115975565559755655Humanname
597912270CV3850651single nucleotide variantNM_004177.5(STX3):c.467-6A>Gnot provided [RCV005203799]likely benign115979309359793093Humanname
15159799CV777950single nucleotide variantNM_004177.5(STX3):c.290-5T>Cnot provided [RCV000947350]benign115979051459790514Humanname
127238882CV1078349single nucleotide variantNM_004177.5(STX3):c.115-15T>Cnot provided [RCV001397407]likely benign115978702259787022Humanname
127333173CV1121554single nucleotide variantNM_004177.5(STX3):c.540+19C>Tnot provided [RCV001472708]likely benign115979319159793191Humanname
127302702CV1142413single nucleotide variantNM_004177.5(STX3):c.786+13T>Cnot provided [RCV001499130]likely benign115979549559795495Humanname
152029828CV1568699single nucleotide variantNM_004177.5(STX3):c.358-13C>Tnot provided [RCV002186288]likely benign115979209459792094Humanname
152143662CV1582406single nucleotide variantNM_004177.5(STX3):c.289+17G>Tnot provided [RCV002200907]likely benign115978896459788964Humanname
152129854CV1583965single nucleotide variantNM_004177.5(STX3):c.466+19G>Tnot provided [RCV002199176]likely benign115979223459792234Humanname
152060784CV1597112single nucleotide variantNM_004177.5(STX3):c.540+20G>Tnot provided [RCV002208629]likely benign115979319259793192Humanname
152084777CV1622941single nucleotide variantNM_004177.5(STX3):c.467-10T>Cnot provided [RCV002113237]likely benign115979308959793089Humanname
152074879CV1630390single nucleotide variantNM_004177.5(STX3):c.676-11G>Tnot provided [RCV002169775]likely benign115979536159795361Humanname
152028371CV1642763single nucleotide variantNM_004177.5(STX3):c.289+13C>Tnot provided [RCV002185814]likely benign115978896059788960Humanname
156419636CV1973877single nucleotide variantNM_004177.5(STX3):c.540+11T>Gnot provided [RCV002612875]likely benign115979318359793183Humanname
156177195CV1996723single nucleotide variantNM_004177.5(STX3):c.675+11G>Anot provided [RCV002642912]likely benign115979352559793525Humanname
156374234CV2003846single nucleotide variantNM_004177.5(STX3):c.358-20C>Tnot provided [RCV002653157]likely benign115979208759792087Humanname
156230595CV2024251single nucleotide variantNM_004177.5(STX3):c.540+20G>Anot provided [RCV002745291]likely benign|uncertain significance115979319259793192Humanname
156172629CV2055511single nucleotide variantNM_004177.5(STX3):c.115-19A>Gnot provided [RCV002828036]likely benign115978701859787018Humanname
156051397CV2060070single nucleotide variantNM_004177.5(STX3):c.357+16G>Anot provided [RCV002796780]likely benign115979060259790602Humanname
156009999CV2075491single nucleotide variantNM_004177.5(STX3):c.786+20T>Cnot provided [RCV002843820]likely benign115979550259795502Humanname
156228080CV2088897single nucleotide variantNM_004177.5(STX3):c.289+18A>Gnot provided [RCV002876130]likely benign115978896559788965Humanname
156005750CV2165114single nucleotide variantNM_004177.5(STX3):c.466+14G>Tnot provided [RCV003034985]uncertain significance115979222959792229Humanname
156138276CV2165901single nucleotide variantNM_004177.5(STX3):c.786+14G>Cnot provided [RCV003022428]likely benign115979549659795496Humanname
405123652CV2889400single nucleotide variantNM_004177.5(STX3):c.215-10A>Gnot provided [RCV003559360]likely benign115978886359788863Humanname
405165179CV2905680single nucleotide variantNM_004177.5(STX3):c.290-11C>Tnot provided [RCV003562625]likely benign115979050859790508Humanname
405170600CV2951153single nucleotide variantNM_004177.5(STX3):c.675+11G>Tnot provided [RCV003675298]likely benign115979352559793525Humanname
405119126CV2993783single nucleotide variantNM_004177.5(STX3):c.290-17C>Tnot provided [RCV003723687]likely benign115979050259790502Humanname
404994639CV2996015single nucleotide variantNM_004177.5(STX3):c.114+15T>Anot provided [RCV003692562]likely benign115977330959773309Humanname
405092905CV3025987single nucleotide variantNM_004177.5(STX3):c.675+14A>Gnot provided [RCV003699794]likely benign115979352859793528Humanname
405195100CV3146470single nucleotide variantNM_004177.5(STX3):c.466+18G>Cnot provided [RCV003843825]likely benign115979223359792233Humanname
597895960CV3740372single nucleotide variantNM_004177.5(STX3):c.540+19C>Gnot provided [RCV005071725]likely benign115979319159793191Humanname
597886248CV3741776single nucleotide variantNM_004177.5(STX3):c.466+20C>Tnot provided [RCV005070495]likely benign115979223559792235Humanname
597924736CV3748524single nucleotide variantNM_004177.5(STX3):c.540+18T>Cnot provided [RCV005075172]likely benign115979319059793190Humanname
597846639CV3753102single nucleotide variantNM_004177.5(STX3):c.290-18C>Tnot provided [RCV005087327]likely benign115979050159790501Humanname
597952140CV3765564single nucleotide variantNM_004177.5(STX3):c.214+16G>Anot provided [RCV005121208]likely benign115978715259787152Humanname
597897665CV3782423duplicationNM_004177.5(STX3):c.786+10dupnot provided [RCV005126648]likely benign115979549159795492Humanname
597898596CV3782587single nucleotide variantNM_004177.5(STX3):c.215-16G>Cnot provided [RCV005126812]likely benign115978885759788857Humanname
597955170CV3809416single nucleotide variantNM_004177.5(STX3):c.215-20G>Anot provided [RCV005162140]likely benign115978885359788853Humanname
597911314CV3816913single nucleotide variantNM_004177.5(STX3):c.289+13C>Anot provided [RCV005154310]likely benign115978896059788960Humanname
597910141CV3830149deletionNM_004177.5(STX3):c.114+14delnot provided [RCV005182719]likely benign115977330759773307Humanname
8653131CV129706single nucleotide variantNM_001178040.1(STX3):c.31-1730G>TLung cancer [RCV000110193]uncertain significance115977148159771481Humanname
405179670CV2956131deletionNM_004177.5(STX3):c.30+29_30+43delnot provided [RCV003676144]likely benign115975565459755668Humanname
156300857CV2069905single nucleotide variantNM_004177.5(STX3):c.12T>C (p.Arg4=)not provided [RCV002833612]likely benign115975561759755617Humanname
156081477CV2098694single nucleotide variantNM_004177.5(STX3):c.24G>A (p.Leu8=)not provided [RCV002912718]likely benign115975562959755629Humanname
156165715CV2045153microsatelliteNM_004177.5(STX3):c.467-14_467-12delnot provided [RCV002741705]likely benign115979308259793084Humanname
156112401CV2088260single nucleotide variantNM_004177.5(STX3):c.54T>C (p.Asp18=)not provided [RCV002889242]likely benign115977323459773234Humanname
402517024CV2874555single nucleotide variantNM_004177.5(STX3):c.33G>A (p.Lys11=)not provided [RCV003547476]likely benign115977321359773213Humanname
405005481CV2929364single nucleotide variantNM_004177.5(STX3):c.66T>A (p.Val22=)not provided [RCV003576257]likely benign115977324659773246Humanname
405132038CV3133512single nucleotide variantNM_004177.5(STX3):c.99C>T (p.Asp33=)not provided [RCV003838482]likely benign115977327959773279Humanname
597833336CV3760429single nucleotide variantNM_004177.5(STX3):c.78C>A (p.Ile26=)not provided [RCV005085172]likely benign115977325859773258Humanname
597889305CV3766374single nucleotide variantNM_004177.5(STX3):c.87G>A (p.Thr29=)not provided [RCV005110491]likely benign115977326759773267Humanname
597839239CV3824918single nucleotide variantNM_004177.5(STX3):c.78C>T (p.Ile26=)not provided [RCV005171782]likely benign115977325859773258Humanname
127233678CV1078350single nucleotide variantNM_004177.5(STX3):c.201G>A (p.Pro67=)not provided [RCV001413989]likely benign115978712359787123Humanname
152111347CV1552405single nucleotide variantNM_004177.5(STX3):c.219C>T (p.Thr73=)not provided [RCV002134525]likely benign115978887759788877Humanname
152149526CV1569365single nucleotide variantNM_004177.5(STX3):c.135C>T (p.Asn45=)not provided [RCV002220583]likely benign115978705759787057Humanname
152175914CV1580177single nucleotide variantNM_004177.5(STX3):c.159A>G (p.Val53=)not provided [RCV002164052]likely benign115978708159787081Humanname
152147207CV1656081single nucleotide variantNM_004177.5(STX3):c.228C>T (p.Asp76=)STX3-related disorder [RCV003933336]|not provided [RCV002220233]benign|likely benign115978888659788886Human1name , trait , alternate_id
156447065CV1944700single nucleotide variantNM_004177.5(STX3):c.243G>A (p.Thr81=)not provided [RCV003118592]likely benign115978890159788901Humanname
156343055CV1981632single nucleotide variantNM_004177.5(STX3):c.180C>T (p.Tyr60=)STX3-related disorder [RCV003943465]|not provided [RCV002631529]likely benign115978710259787102Human1name , trait , alternate_id
156099295CV2042108single nucleotide variantNM_004177.5(STX3):c.270C>T (p.Asn90=)STX3-related disorder [RCV003926444]|not provided [RCV002761255]likely benign115978892859788928Human1name , trait , alternate_id
155904029CV2084034single nucleotide variantNM_004177.5(STX3):c.147C>A (p.Ile49=)not provided [RCV002858036]likely benign115978706959787069Humanname
156071178CV2168918single nucleotide variantNM_004177.5(STX3):c.10C>T (p.Arg4Cys)not provided [RCV003037572]uncertain significance115975561559755615Humanname
405233359CV3145046single nucleotide variantNM_004177.5(STX3):c.183T>C (p.Ser61=)not provided [RCV003853303]likely benign115978710559787105Humanname
597633636CV3615188single nucleotide variantNM_004177.5(STX3):c.23T>C (p.Leu8Pro)Inborn genetic diseases [RCV004969141]uncertain significance115975562859755628Human1name
597907662CV3804223single nucleotide variantNM_004177.5(STX3):c.279C>T (p.Asn93=)not provided [RCV005153769]likely benign115978893759788937Humanname
597928745CV3851833single nucleotide variantNM_004177.5(STX3):c.264C>T (p.Ala88=)not provided [RCV005206301]likely benign115978892259788922Humanname
15187015CV724508single nucleotide variantNM_004177.5(STX3):c.291C>T (p.Ser97=)STX3-related disorder [RCV003975590]|not provided [RCV000887138]benign|likely benign115979052059790520Human1name , trait , alternate_id
127273217CV1078351single nucleotide variantNM_004177.5(STX3):c.723C>T (p.Asp241=)not provided [RCV001405948]likely benign115979541959795419Humanname
127331417CV1121553single nucleotide variantNM_004177.5(STX3):c.483C>T (p.Thr161=)STX3-related disorder [RCV003900627]|not provided [RCV001471544]likely benign115979311559793115Human1name , trait , alternate_id
151839087CV1344972single nucleotide variantNM_004177.5(STX3):c.29C>T (p.Ala10Val)not provided [RCV002015111]uncertain significance115975563459755634Humanname
151837149CV1383197single nucleotide variantNM_004177.5(STX3):c.62C>T (p.Ala21Val)not provided [RCV001935675]uncertain significance115977324259773242Humanname
151712410CV1423133single nucleotide variantNM_004177.5(STX3):c.36G>C (p.Gln12His)not provided [RCV002002244]uncertain significance115977321659773216Humanname
151797604CV1424405single nucleotide variantNM_004177.5(STX3):c.86C>T (p.Thr29Met)not provided [RCV002047686]uncertain significance115977326659773266Humanname
151837926CV1492432single nucleotide variantNM_004177.5(STX3):c.47A>G (p.Asp16Gly)not provided [RCV002051417]uncertain significance115977322759773227Humanname
151723318CV1500252single nucleotide variantNM_004177.5(STX3):c.675G>A (p.Gln225=)not provided [RCV001910034]uncertain significance115979351459793514Humanname
152174340CV1536318single nucleotide variantNM_004177.5(STX3):c.762G>C (p.Val254=)not provided [RCV002144404]likely benign115979545859795458Humanname
152082021CV1558685single nucleotide variantNM_004177.5(STX3):c.726C>T (p.His242=)not provided [RCV002149437]likely benign115979542259795422Humanname
152149640CV1566599single nucleotide variantNM_004177.5(STX3):c.327A>T (p.Ser109=)STX3-related disorder [RCV003951265]|not provided [RCV002139320]likely benign115979055659790556Human1name , trait , alternate_id
152114356CV1574824single nucleotide variantNM_004177.5(STX3):c.522G>A (p.Pro174=)not provided [RCV002116984]likely benign115979315459793154Humanname
152118159CV1620057single nucleotide variantNM_004177.5(STX3):c.498G>A (p.Glu166=)not provided [RCV002216419]likely benign115979313059793130Humanname
152070105CV1628310single nucleotide variantNM_004177.5(STX3):c.636C>T (p.His212=)not provided [RCV002169181]likely benign115979347559793475Humanname
152142675CV1636485single nucleotide variantNM_004177.5(STX3):c.477G>A (p.Lys159=)not provided [RCV002120592]likely benign115979310959793109Humanname
152150739CV1663210single nucleotide variantNM_004177.5(STX3):c.654C>T (p.Ile218=)not provided [RCV002158151]likely benign115979349359793493Humanname
156044787CV1927049single nucleotide variantNM_004177.5(STX3):c.861G>A (p.Gly287=)not provided [RCV002637718]likely benign115979735759797357Humanname
156224577CV2009376single nucleotide variantNM_004177.5(STX3):c.699G>A (p.Glu233=)not provided [RCV002701134]likely benign115979539559795395Humanname
156002277CV2057512single nucleotide variantNM_004177.5(STX3):c.543C>A (p.Ile181=)not provided [RCV002819711]likely benign115979338259793382Humanname
156135611CV2097340single nucleotide variantNM_004177.5(STX3):c.402C>T (p.Tyr134=)not provided [RCV002890112]likely benign115979215159792151Humanname
156213305CV2110788single nucleotide variantNM_004177.5(STX3):c.837A>C (p.Ala279=)not provided [RCV002918253]likely benign115979733359797333Humanname
156012263CV2137326single nucleotide variantNM_004177.5(STX3):c.399A>G (p.Lys133=)not provided [RCV003017808]likely benign115979214859792148Humanname
156188755CV2160713single nucleotide variantNM_004177.5(STX3):c.390G>A (p.Val130=)not provided [RCV003024062]likely benign115979213959792139Humanname
156163036CV2191965single nucleotide variantNM_004177.5(STX3):c.849A>G (p.Gly283=)not provided [RCV003040780]likely benign115979734559797345Humanname
156194135CV2223317single nucleotide variantNM_004177.5(STX3):c.79G>A (p.Asp27Asn)Inborn genetic diseases [RCV002743026]uncertain significance115977325959773259Human1name
156055226CV2308763single nucleotide variantNM_004177.5(STX3):c.34C>G (p.Gln12Glu)Inborn genetic diseases [RCV002911443]uncertain significance115977321459773214Human1name
405218120CV2907465single nucleotide variantNM_004177.5(STX3):c.864G>A (p.Leu288=)not provided [RCV003568044]likely benign115979736059797360Humanname
405242380CV2967283single nucleotide variantNM_004177.5(STX3):c.459C>T (p.Leu153=)not provided [RCV003684339]likely benign115979220859792208Humanname
405164105CV3017972single nucleotide variantNM_004177.5(STX3):c.303T>C (p.His101=)not provided [RCV003704104]likely benign115979053259790532Humanname
405203803CV3033371single nucleotide variantNM_004177.5(STX3):c.360C>T (p.His120=)not provided [RCV003707741]likely benign115979210959792109Humanname
405157992CV3152626single nucleotide variantNM_004177.5(STX3):c.621C>T (p.Ser207=)not provided [RCV003840553]likely benign115979346059793460Humanname
597960056CV3746186single nucleotide variantNM_004177.5(STX3):c.59A>T (p.Asp20Val)not provided [RCV005081434]uncertain significance115977323959773239Humanname
597925684CV3748812single nucleotide variantNM_004177.5(STX3):c.414A>G (p.Gln138=)not provided [RCV005075268]likely benign115979216359792163Humanname
597936715CV3807700single nucleotide variantNM_004177.5(STX3):c.750G>A (p.Thr250=)not provided [RCV005158079]likely benign115979544659795446Humanname
597875747CV3813050single nucleotide variantNM_004177.5(STX3):c.300G>A (p.Lys100=)not provided [RCV005148986]likely benign115979052959790529Humanname
597957902CV3814492single nucleotide variantNM_004177.5(STX3):c.495G>A (p.Leu165=)not provided [RCV005162823]likely benign115979312759793127Humanname
597953546CV3844012single nucleotide variantNM_004177.5(STX3):c.330G>A (p.Ser110=)not provided [RCV005190874]likely benign115979055959790559Humanname
15199099CV701818single nucleotide variantNM_004177.5(STX3):c.540G>A (p.Gly180=)not provided [RCV000956945]benign115979317259793172Humanname
15159890CV712899single nucleotide variantNM_004177.5(STX3):c.44A>G (p.Gln15Arg)not provided [RCV000969795]likely benign115977322459773224Humanname
15189979CV724509single nucleotide variantNM_004177.5(STX3):c.645T>C (p.Phe215=)not provided [RCV000887974]benign115979348459793484Humanname
15167497CV738044single nucleotide variantNM_004177.5(STX3):c.318G>A (p.Glu106=)not provided [RCV000904665]likely benign115979054759790547Humanname
8634220CV89438single nucleotide variantNM_004177.5(STX3):c.354C>T (p.Ser118=)not provided [RCV003560083]likely benign|not provided115979058359790583Humanname
126921340CV1047290single nucleotide variantNM_004177.5(STX3):c.242C>T (p.Thr81Met)Inborn genetic diseases [RCV002550038]|not provided [RCV001363422]uncertain significance115978890059788900Human1name
151849804CV1345464single nucleotide variantNM_004177.5(STX3):c.194C>G (p.Ser65Cys)Inborn genetic diseases [RCV003164084]|not provided [RCV001903940]uncertain significance115978711659787116Human1name
151869108CV1345847single nucleotide variantNM_004177.5(STX3):c.274C>T (p.Arg92Trp)Inborn genetic diseases [RCV002553478]|not provided [RCV001924971]uncertain significance115978893259788932Human1name
151755153CV1365492single nucleotide variantNM_004177.5(STX3):c.271G>A (p.Val91Ile)Inborn genetic diseases [RCV004681280]|not provided [RCV001872647]uncertain significance115978892959788929Human1name
151816922CV1384652single nucleotide variantNM_004177.5(STX3):c.270C>A (p.Asn90Lys)Inborn genetic diseases [RCV003365592]|not provided [RCV001992386]uncertain significance115978892859788928Human1name
151817441CV1385614single nucleotide variantNM_004177.5(STX3):c.211C>A (p.Pro71Thr)not provided [RCV002013042]uncertain significance115978713359787133Humanname
151794402CV1394981single nucleotide variantNM_004177.5(STX3):c.210G>C (p.Glu70Asp)Inborn genetic diseases [RCV004042147]|not provided [RCV001973346]uncertain significance115978713259787132Human1name
151764313CV1403132single nucleotide variantNM_004177.5(STX3):c.187A>G (p.Ile63Val)not provided [RCV001914344]uncertain significance115978710959787109Humanname
151775813CV1427090single nucleotide variantNM_004177.5(STX3):c.287A>G (p.Lys96Arg)not provided [RCV002009277]uncertain significance115978894559788945Humanname
151795725CV1434512single nucleotide variantNM_004177.5(STX3):c.140A>G (p.Asp47Gly)not provided [RCV001866662]uncertain significance115978706259787062Humanname
151760236CV1434988single nucleotide variantNM_004177.5(STX3):c.275G>A (p.Arg92Gln)not provided [RCV001913892]uncertain significance115978893359788933Humanname
151761684CV1496472single nucleotide variantNM_004177.5(STX3):c.175C>T (p.Leu59Phe)not provided [RCV001895397]uncertain significance115978709759787097Humanname
151875149CV1511682single nucleotide variantNM_004177.5(STX3):c.271G>T (p.Val91Phe)Inborn genetic diseases [RCV004044489]|not provided [RCV001960950]uncertain significance115978892959788929Human1name
156290752CV1897502single nucleotide variantNM_004177.5(STX3):c.127C>T (p.Arg43Trp)not provided [RCV002598744]uncertain significance115978704959787049Humanname
156140428CV1898496single nucleotide variantNM_004177.5(STX3):c.155A>G (p.His52Arg)Inborn genetic diseases [RCV003082180]|not provided [RCV003088111]uncertain significance115978707759787077Human1name
156223619CV1960404single nucleotide variantNM_004177.5(STX3):c.217A>G (p.Thr73Ala)not provided [RCV002575620]uncertain significance115978887559788875Humanname
156087541CV2008829single nucleotide variantNM_004177.5(STX3):c.200C>T (p.Pro67Leu)not provided [RCV002706196]uncertain significance115978712259787122Humanname
10408154CV205602single nucleotide variantNM_004177.5(STX3):c.122A>G (p.Glu41Gly)not provided [RCV000190984]uncertain significance115978704459787044Humanname
155919298CV2102295single nucleotide variantNM_004177.5(STX3):c.136A>G (p.Ile46Val)not provided [RCV002903271]uncertain significance115978705859787058Humanname
156202962CV2179106single nucleotide variantNM_004177.5(STX3):c.214A>C (p.Lys72Gln)not provided [RCV003024517]uncertain significance115978713659787136Humanname
155921292CV2240504single nucleotide variantNM_004177.5(STX3):c.190C>T (p.Leu64Phe)Inborn genetic diseases [RCV002773041]uncertain significance115978711259787112Human1name
405780785CV3331050single nucleotide variantNM_004177.5(STX3):c.197C>T (p.Ala66Val)Inborn genetic diseases [RCV004458628]uncertain significance115978711959787119Human1name
597930777CV3789381deletionNM_004177.5(STX3):c.756del (p.Ala253fs)not provided [RCV005131662]pathogenic115979544759795447Humanname
598220436CV3916105single nucleotide variantNM_004177.5(STX3):c.187A>C (p.Ile63Leu)Inborn genetic diseases [RCV005293489]uncertain significance115978710959787109Human1name
126754798CV994573single nucleotide variantNM_004177.5(STX3):c.178T>C (p.Tyr60His)not provided [RCV001307713]uncertain significance115978710059787100Humanname
126911570CV1047291single nucleotide variantNM_004177.5(STX3):c.857T>C (p.Val286Ala)Inborn genetic diseases [RCV004037074]|not provided [RCV001369280]uncertain significance115979735359797353Human1name
127262526CV1062383single nucleotide variantNM_004177.5(STX3):c.739C>T (p.Arg247Ter)Diarrhea 12, with microvillus atrophy [RCV001542243]|not provided [RCV001380743]pathogenic115979543559795435Human1name
127294672CV1121555single nucleotide variantNM_004177.5(STX3):c.856G>A (p.Val286Ile)not provided [RCV001476882]likely benign115979735259797352Humanname
151727801CV1338658single nucleotide variantNM_004177.5(STX3):c.590G>T (p.Arg197Leu)not provided [RCV002004468]uncertain significance115979342959793429Humanname
151750176CV1359034single nucleotide variantNM_004177.5(STX3):c.518A>T (p.Asn173Ile)not provided [RCV001969113]uncertain significance115979315059793150Humanname
151863062CV1368276single nucleotide variantNM_004177.5(STX3):c.367C>T (p.Leu123Phe)not provided [RCV001905546]uncertain significance115979211659792116Humanname
151881345CV1384870single nucleotide variantNM_004177.5(STX3):c.539G>A (p.Gly180Glu)not provided [RCV001982595]uncertain significance115979317159793171Humanname
151763982CV1403082single nucleotide variantNM_004177.5(STX3):c.521C>T (p.Pro174Leu)Inborn genetic diseases [RCV004970532]|not provided [RCV001914309]uncertain significance115979315359793153Human1name
151842279CV1433156single nucleotide variantNM_004177.5(STX3):c.739C>G (p.Arg247Gly)not provided [RCV001994900]likely benign115979543559795435Humanname
151819922CV1450126single nucleotide variantNM_004177.5(STX3):c.556A>G (p.Ile186Val)not provided [RCV001879117]uncertain significance115979339559793395Humanname
151862958CV1454288single nucleotide variantNM_004177.5(STX3):c.740G>A (p.Arg247Gln)not provided [RCV001938798]uncertain significance115979543659795436Humanname
151771229CV1477514single nucleotide variantNM_004177.5(STX3):c.404A>G (p.Asn135Ser)not provided [RCV001950173]uncertain significance115979215359792153Humanname
151755316CV1483949single nucleotide variantNM_004177.5(STX3):c.752A>G (p.Lys251Arg)Inborn genetic diseases [RCV002555392]|not provided [RCV001927920]uncertain significance115979544859795448Human1name
151730883CV1489605single nucleotide variantNM_004177.5(STX3):c.373C>T (p.Arg125Trp)Inborn genetic diseases [RCV004970418]|not provided [RCV001910858]uncertain significance115979212259792122Human1name
151738964CV1492257single nucleotide variantNM_004177.5(STX3):c.329C>T (p.Ser110Leu)not provided [RCV002042041]uncertain significance115979055859790558Humanname
151785920CV1495364single nucleotide variantNM_004177.5(STX3):c.358C>T (p.His120Tyr)not provided [RCV002026711]uncertain significance115979210759792107Humanname
151736059CV1507032single nucleotide variantNM_004177.5(STX3):c.749C>T (p.Thr250Met)not provided [RCV001984730]uncertain significance115979544559795445Humanname
151875757CV1507950single nucleotide variantNM_004177.5(STX3):c.643T>C (p.Phe215Leu)not provided [RCV001961021]uncertain significance115979348259793482Humanname
151840491CV1508250single nucleotide variantNM_004177.5(STX3):c.646A>G (p.Met216Val)not provided [RCV001956689]uncertain significance115979348559793485Humanname
151742350CV1514746single nucleotide variantNM_004177.5(STX3):c.443G>A (p.Arg148Gln)not provided [RCV002022441]uncertain significance115979219259792192Humanname
156355532CV1894819single nucleotide variantNM_004177.5(STX3):c.442C>T (p.Arg148Ter)not provided [RCV003091321]pathogenic115979219159792191Humanname
156414498CV1912406single nucleotide variantNM_004177.5(STX3):c.770A>G (p.Gln257Arg)not provided [RCV002588644]uncertain significance115979546659795466Humanname
156444954CV1949006single nucleotide variantNM_004177.5(STX3):c.346C>T (p.Arg116Trp)not provided [RCV003115888]uncertain significance115979057559790575Humanname
156445888CV1952139single nucleotide variantNM_004177.5(STX3):c.727G>A (p.Val243Met)not provided [RCV003116851]uncertain significance115979542359795423Humanname
156085258CV1993124single nucleotide variantNM_004177.5(STX3):c.835G>A (p.Ala279Thr)Inborn genetic diseases [RCV004966004]|not provided [RCV002639033]uncertain significance115979733159797331Human1name
156029014CV2004810single nucleotide variantNM_004177.5(STX3):c.520C>T (p.Pro174Ser)not provided [RCV002658577]uncertain significance115979315259793152Humanname
156018575CV2019208single nucleotide variantNM_004177.5(STX3):c.544A>G (p.Ile182Val)not provided [RCV002690886]uncertain significance115979338359793383Humanname
156158074CV2033672single nucleotide variantNM_004177.5(STX3):c.655G>C (p.Ala219Pro)Inborn genetic diseases [RCV004681542]|not provided [RCV002741445]uncertain significance115979349459793494Human1name
155965788CV2034240single nucleotide variantNM_004177.5(STX3):c.340C>T (p.Arg114Trp)not provided [RCV002731387]uncertain significance115979056959790569Humanname
156110633CV2042551single nucleotide variantNM_004177.5(STX3):c.431G>A (p.Arg144His)not provided [RCV002785384]uncertain significance115979218059792180Humanname
156296704CV2073533single nucleotide variantNM_004177.5(STX3):c.779C>A (p.Ala260Asp)not provided [RCV002833432]uncertain significance115979547559795475Humanname
155905716CV2134512single nucleotide variantNM_004177.5(STX3):c.748A>C (p.Thr250Pro)not provided [RCV002967697]uncertain significance115979544459795444Humanname
156083657CV2138364single nucleotide variantNM_004177.5(STX3):c.460G>A (p.Glu154Lys)not provided [RCV002979347]uncertain significance115979220959792209Humanname
156230782CV2140973single nucleotide variantNM_004177.5(STX3):c.430C>T (p.Arg144Cys)not provided [RCV003007733]uncertain significance115979217959792179Humanname
156176874CV2144825single nucleotide variantNM_004177.5(STX3):c.655G>A (p.Ala219Thr)not provided [RCV003005581]uncertain significance115979349459793494Humanname
155939818CV2293978single nucleotide variantNM_004177.5(STX3):c.637G>A (p.Asp213Asn)Inborn genetic diseases [RCV002879490]uncertain significance115979347659793476Human1name
405124350CV3043338single nucleotide variantNM_004177.5(STX3):c.424C>T (p.Arg142Ter)not provided [RCV003724224]pathogenic115979217359792173Humanname
405780791CV3331051single nucleotide variantNM_004177.5(STX3):c.364G>C (p.Val122Leu)Inborn genetic diseases [RCV004458629]uncertain significance115979211359792113Human1name
405780797CV3331052single nucleotide variantNM_004177.5(STX3):c.791T>G (p.Leu264Trp)Inborn genetic diseases [RCV004458630]uncertain significance115979728759797287Human1name
405780803CV3331053single nucleotide variantNM_004177.5(STX3):c.830T>G (p.Ile277Ser)Inborn genetic diseases [RCV004458631]uncertain significance115979732659797326Human1name
407496816CV3481739single nucleotide variantNM_004177.5(STX3):c.776A>G (p.Gln259Arg)Inborn genetic diseases [RCV004668240]uncertain significance115979547259795472Human1name
597633641CV3615189single nucleotide variantNM_004177.5(STX3):c.830T>C (p.Ile277Thr)Inborn genetic diseases [RCV004969142]uncertain significance115979732659797326Human1name
598251936CV3916107single nucleotide variantNM_004177.5(STX3):c.594C>G (p.His198Gln)Inborn genetic diseases [RCV005277992]uncertain significance115979343359793433Human1name
598220447CV3916108single nucleotide variantNM_004177.5(STX3):c.415G>A (p.Val139Met)Inborn genetic diseases [RCV005293491]uncertain significance115979216459792164Human1name
598220452CV3916109single nucleotide variantNM_004177.5(STX3):c.337C>G (p.Leu113Val)Inborn genetic diseases [RCV005293492]uncertain significance115979056659790566Human1name
598220457CV3916110single nucleotide variantNM_004177.5(STX3):c.850C>T (p.Leu284Phe)Inborn genetic diseases [RCV005293493]uncertain significance115979734659797346Human1name
15199102CV701819single nucleotide variantNM_004177.5(STX3):c.826G>A (p.Gly276Ser)not provided [RCV000956946]benign115979732259797322Humanname
15171128CV701820single nucleotide variantNM_004177.5(STX3):c.853T>C (p.Ser285Pro)not provided [RCV000949776]benign115979734959797349Humanname
15146716CV712900single nucleotide variantNM_004177.5(STX3):c.781C>T (p.Arg261Trp)not provided [RCV000967206]benign115979547759795477Humanname
28889620CV903579single nucleotide variantNM_004177.5(STX3):c.589C>T (p.Arg197Ter)not provided [RCV001169904]conflicting interpretations of pathogenicity|uncertain significance115979342859793428Humanname
127239852CV1062382microsatelliteNM_004177.5(STX3):c.177_178del (p.Tyr60fs)Retinal dystrophy and microvillus inclusion disease [RCV001542247]|not provided [RCV001383334]pathogenic115978709759787098Humanname
150338300CV1173959microsatelliteNM_004177.5(STX3):c.372_373dup (p.Arg125fs)Retinal dystrophy and microvillus inclusion disease [RCV001542244]pathogenic115979211859792119Humanname
402488118CV2856419deletionNM_004177.5(STX3):c.718_725del (p.Val240fs)not provided [RCV003572737]pathogenic115979541259795419Humanname
8634219CV89437single nucleotide variantNM_001178040.1(STX3):c.353C>T (p.Ser118Phe)Malignant melanoma [RCV000069534]not provided115979058259790582Humanname
150338301CV1173960indelNM_004177.5(STX3):c.363_366delinsGA (p.Val122fs)Retinal dystrophy and microvillus inclusion disease [RCV001542245]pathogenic115979211259792115Humanname
151856663CV1470063indelNM_004177.5(STX3):c.663_664delinsAT (p.Val222Leu)not provided [RCV001883413]uncertain significance115979350259793503Humanname