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Pathways
Variants search result for All species
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906 records found for search term Snx1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156384422CV2231081single nucleotide variantNM_003099.5(SNX1):c.46C>T (p.Pro16Ser)not specified [RCV004094306]uncertain significance156409605964096059Humanname
329373754CV2434576single nucleotide variantNM_003099.5(SNX1):c.92G>A (p.Gly31Glu)not specified [RCV004254274]uncertain significance156409610564096105Humanname
329390751CV2455435single nucleotide variantNM_003099.5(SNX1):c.79G>A (p.Gly27Arg)not specified [RCV004276707]uncertain significance156409609264096092Humanname
329362014CV2456646single nucleotide variantNM_003099.5(SNX1):c.40C>G (p.Leu14Val)not specified [RCV004277831]uncertain significance156409605364096053Humanname
401736755CV2689421single nucleotide variantNM_003099.5(SNX1):c.88G>A (p.Gly30Arg)not specified [RCV004306231]uncertain significance156409610164096101Humanname
597745180CV3607220single nucleotide variantNM_003099.5(SNX1):c.32C>T (p.Ser11Leu)not specified [RCV004865620]uncertain significance156409604564096045Humanname
156064647CV2317710single nucleotide variantNM_003099.5(SNX1):c.253C>T (p.Pro85Ser)not specified [RCV004174975]uncertain significance156411266664112666Humanname
156189321CV2356606single nucleotide variantNM_003099.5(SNX1):c.142A>G (p.Thr48Ala)not specified [RCV004201972]uncertain significance156409615564096155Humanname
401772156CV2708154single nucleotide variantNM_003099.5(SNX1):c.280G>A (p.Val94Met)not specified [RCV004311523]uncertain significance156411812564118125Humanname
405732260CV3326367single nucleotide variantNM_003099.5(SNX1):c.277A>G (p.Thr93Ala)not specified [RCV004464491]uncertain significance156411812264118122Humanname
407503813CV3484778single nucleotide variantNM_003099.5(SNX1):c.268G>A (p.Ala90Thr)not specified [RCV004670374]uncertain significance156411268164112681Humanname
597745196CV3607224single nucleotide variantNM_003099.5(SNX1):c.212G>T (p.Gly71Val)not specified [RCV004865623]uncertain significance156411262564112625Humanname
598171887CV3911650single nucleotide variantNM_003099.5(SNX1):c.218A>T (p.Lys73Ile)not specified [RCV005284885]uncertain significance156411263164112631Humanname
598171882CV3911651single nucleotide variantNM_003099.5(SNX1):c.107C>G (p.Ala36Gly)not specified [RCV005284886]uncertain significance156409612064096120Humanname
155990476CV2256346single nucleotide variantNM_003099.5(SNX1):c.457G>A (p.Glu153Lys)not specified [RCV004116802]uncertain significance156411884564118845Humanname
156314656CV2257186single nucleotide variantNM_003099.5(SNX1):c.685T>C (p.Ser229Pro)not specified [RCV004123136]uncertain significance156412720664127206Humanname
156003231CV2258043single nucleotide variantNM_003099.5(SNX1):c.692C>A (p.Ser231Tyr)not specified [RCV004129840]uncertain significance156412721364127213Humanname
156230284CV2267951single nucleotide variantNM_003099.5(SNX1):c.811C>A (p.Pro271Thr)not specified [RCV004136235]uncertain significance156412991964129919Humanname
156166666CV2279669single nucleotide variantNM_003099.5(SNX1):c.617T>A (p.Phe206Tyr)not specified [RCV004144293]uncertain significance156412618564126185Humanname
156051359CV2304653single nucleotide variantNM_003099.5(SNX1):c.440T>G (p.Val147Gly)not specified [RCV004166537]uncertain significance156411882864118828Humanname
156187915CV2328478single nucleotide variantNM_003099.5(SNX1):c.853C>T (p.Leu285Phe)not specified [RCV004175859]uncertain significance156412996164129961Humanname
156129362CV2364636single nucleotide variantNM_003099.5(SNX1):c.388A>G (p.Thr130Ala)not specified [RCV004219527]uncertain significance156411823364118233Humanname
405732266CV3326368single nucleotide variantNM_003099.5(SNX1):c.337C>G (p.Leu113Val)not specified [RCV004464492]uncertain significance156411818264118182Humanname
405732285CV3326370single nucleotide variantNM_003099.5(SNX1):c.937C>G (p.Leu313Val)not specified [RCV004464494]uncertain significance156413024364130243Humanname
407503810CV3484777single nucleotide variantNM_003099.5(SNX1):c.374C>T (p.Ser125Leu)not specified [RCV004670373]uncertain significance156411821964118219Humanname
597745175CV3607219single nucleotide variantNM_003099.5(SNX1):c.580T>C (p.Tyr194His)not specified [RCV004865619]uncertain significance156412614864126148Humanname
597745185CV3607222single nucleotide variantNM_003099.5(SNX1):c.472G>A (p.Gly158Ser)not specified [RCV004865621]uncertain significance156412350864123508Humanname
597745202CV3607225single nucleotide variantNM_003099.5(SNX1):c.721G>A (p.Ala241Thr)not specified [RCV004865624]uncertain significance156412724264127242Humanname
598238459CV3911648single nucleotide variantNM_003099.5(SNX1):c.516C>G (p.Ser172Arg)not specified [RCV005275836]uncertain significance156412608464126084Humanname
155919668CV2254909single nucleotide variantNM_003099.5(SNX1):c.1025T>G (p.Leu342Arg)not specified [RCV004117148]uncertain significance156413169664131696Humanname
156079139CV2300893single nucleotide variantNM_003099.5(SNX1):c.1538C>A (p.Ala513Asp)not specified [RCV004158092]uncertain significance156413758764137587Humanname
156083874CV2343117single nucleotide variantNM_003099.5(SNX1):c.1256G>A (p.Arg419His)not specified [RCV004192709]uncertain significance156413469864134698Humanname
156228666CV2352926single nucleotide variantNM_003099.5(SNX1):c.1094G>A (p.Arg365Gln)not specified [RCV004200971]uncertain significance156413176564131765Humanname
329368355CV2427990single nucleotide variantNM_003099.5(SNX1):c.1292G>A (p.Arg431Gln)not specified [RCV004254370]uncertain significance156413473464134734Humanname
329379902CV2456550single nucleotide variantNM_003099.5(SNX1):c.1475A>G (p.His492Arg)not specified [RCV004277478]uncertain significance156413688964136889Humanname
329374253CV2463469single nucleotide variantNM_003099.5(SNX1):c.1477G>A (p.Val493Met)not specified [RCV004277298]uncertain significance156413689164136891Humanname
329398050CV2464732single nucleotide variantNM_003099.5(SNX1):c.1160A>C (p.Asn387Thr)not specified [RCV004284699]uncertain significance156413183164131831Humanname
401890086CV2762162single nucleotide variantNM_003099.5(SNX1):c.1082C>T (p.Thr361Met)not specified [RCV004341976]uncertain significance156413175364131753Humanname
401856710CV2764898single nucleotide variantNM_003099.5(SNX1):c.1220G>A (p.Arg407His)not specified [RCV004334991]uncertain significance156413189164131891Humanname
401887597CV2773534single nucleotide variantNM_003099.5(SNX1):c.1439G>A (p.Arg480Gln)not specified [RCV004355946]uncertain significance156413640364136403Humanname
401887142CV2775653single nucleotide variantNM_003099.5(SNX1):c.1291C>T (p.Arg431Trp)not specified [RCV004350795]uncertain significance156413473364134733Humanname
405732248CV3326365single nucleotide variantNM_003099.5(SNX1):c.1116G>T (p.Glu372Asp)not specified [RCV004464489]uncertain significance156413178764131787Humanname
405732253CV3326366single nucleotide variantNM_003099.5(SNX1):c.1370A>C (p.Glu457Ala)not specified [RCV004464490]uncertain significance156413633464136334Humanname
597741003CV3607221single nucleotide variantNM_003099.5(SNX1):c.1438C>T (p.Arg480Trp)not specified [RCV004864772]uncertain significance156413640264136402Humanname
597745190CV3607223single nucleotide variantNM_003099.5(SNX1):c.1255C>T (p.Arg419Cys)not specified [RCV004865622]uncertain significance156413469764134697Humanname
598171892CV3911649single nucleotide variantNM_003099.5(SNX1):c.1385A>G (p.Gln462Arg)not specified [RCV005284884]uncertain significance156413634964136349Humanname
401854375CV2748940single nucleotide variantNM_153816.6(SNX14):c.-18G>Cnot specified [RCV003331762]uncertain significance68559373685593736Humanname
401854377CV2748941single nucleotide variantNM_153816.6(SNX14):c.*14G>Tnot specified [RCV003331763]benign|uncertain significance68550595385505953Humanname
150425276CV1183888single nucleotide variantNM_153816.6(SNX14):c.*302G>Anot provided [RCV001557793]likely benign68550566585505665Humanname
150405359CV1193836single nucleotide variantNM_153816.6(SNX14):c.*205C>Tnot provided [RCV001571592]likely benign68550576285505762Humanname
151772801CV1367245single nucleotide variantNM_013322.3(SNX10):c.25-9C>Anot provided [RCV001988404]likely benign|uncertain significance72636096626360966Humanname
151788814CV1479353single nucleotide variantNM_013322.3(SNX10):c.24+1G>Anot provided [RCV002046900]likely pathogenic72634646726346467Humanname
152108298CV1547963single nucleotide variantNM_013322.3(SNX10):c.25-4A>Gnot provided [RCV002174007]likely benign72636097126360971Humanname
405242349CV2967264single nucleotide variantNM_013322.3(SNX10):c.24+8A>Gnot provided [RCV003684331]likely benign72634647426346474Humanname
15144768CV744332single nucleotide variantNM_013322.3(SNX10):c.25-5T>CSNX10-related disorder [RCV003922949]|not provided [RCV000900056]benign72636097026360970Human1name , trait , alternate_id
126728973CV1016796single nucleotide variantNM_153816.6(SNX14):c.140+9G>AAutosomal recessive spinocerebellar ataxia 20 [RCV001333019]uncertain significance68559357085593570Human1name
150425225CV1183890single nucleotide variantNM_153816.6(SNX14):c.140+4A>Gnot provided [RCV001557728]likely benign|conflicting interpretations of pathogenicity68559357585593575Humanname
150510668CV1210532single nucleotide variantNM_013322.3(SNX10):c.24+68T>Cnot provided [RCV001597711]benign72634653426346534Humanname
150435623CV1233909single nucleotide variantNM_013322.3(SNX10):c.24+36T>AAutosomal recessive osteopetrosis 8 [RCV001810179]|not provided [RCV001644036]benign72634650226346502Human1name
150530021CV1311396single nucleotide variantNM_153816.6(SNX14):c.867+1G>TCerebellar ataxia [RCV001775502]likely pathogenic68554830085548300Human2name
151798403CV1347261single nucleotide variantNM_153816.6(SNX14):c.913-1G>Tnot provided [RCV002027862]likely pathogenic68554739885547398Humanname
151802263CV1378896single nucleotide variantNM_013322.3(SNX10):c.524+1G>Tnot provided [RCV001877477]uncertain significance72637203426372034Humanname
151715877CV1441752single nucleotide variantNM_013322.3(SNX10):c.111+5G>Anot provided [RCV002002917]uncertain significance72636106626361066Humanname
151880950CV1475571single nucleotide variantNM_013322.3(SNX10):c.111+5G>Cnot provided [RCV001961663]uncertain significance72636106626361066Humanname
152043837CV1530719duplicationNM_013322.3(SNX10):c.312-8dupSNX10-related disorder [RCV003923438]|not provided [RCV002071364]benign72637180326371804Human1name , trait , alternate_id
152031591CV1546766single nucleotide variantNM_013322.3(SNX10):c.24+18C>Gnot provided [RCV002124590]likely benign72634648426346484Humanname
156186641CV1867245single nucleotide variantNM_013322.3(SNX10):c.213-2A>Gnot provided [RCV002508891]likely pathogenic72636504526365045Humanname
156395191CV1984548single nucleotide variantNM_153816.6(SNX14):c.994-4C>Gnot provided [RCV002635415]likely benign68554723085547230Humanname
155971778CV2024865single nucleotide variantNM_013322.3(SNX10):c.213-5C>Gnot provided [RCV002754926]likely benign72636504226365042Humanname
156257704CV2041331deletionNM_013322.3(SNX10):c.312-8delnot provided [RCV002806222]benign72637180426371804Humanname
156371286CV2048874single nucleotide variantNM_013322.3(SNX10):c.525-4C>Gnot provided [RCV002814298]likely benign72637248726372487Humanname
156372405CV2059093single nucleotide variantNM_153816.6(SNX14):c.635-6C>Gnot provided [RCV002814403]uncertain significance68554988585549885Humanname
401910902CV2815626single nucleotide variantNM_014748.4(SNX17):c.432+8G>Anot provided [RCV003425548]likely benign22737397927373979Humanname
405166832CV2954727single nucleotide variantNM_013322.3(SNX10):c.111+1G>Tnot provided [RCV003675101]likely pathogenic72636106226361062Humanname
405233458CV2981782single nucleotide variantNM_013322.3(SNX10):c.312-7A>Tnot provided [RCV003711898]likely benign72637181426371814Humanname
402496427CV3005868single nucleotide variantNM_153816.6(SNX14):c.994-6A>Gnot provided [RCV003688057]likely benign68554723285547232Humanname
405251207CV3181145single nucleotide variantNM_013322.3(SNX10):c.525-4C>Tnot provided [RCV003870146]likely benign72637248726372487Humanname
405291549CV3205783single nucleotide variantNM_153816.6(SNX14):c.549+5A>GSNX14-related disorder [RCV003963915]likely benign68556532785565327Humanname , trait , alternate_id
596944751CV3543278single nucleotide variantNM_013322.3(SNX10):c.112-1G>COsteopetrosis [RCV004799150]likely pathogenic72636453426364534Human2name
596943567CV3544285single nucleotide variantNM_153816.6(SNX14):c.262-1G>AAutosomal recessive spinocerebellar ataxia 20 [RCV004800765]likely pathogenic68557237585572375Human1name
15189721CV730439single nucleotide variantNM_153816.6(SNX14):c.418-6A>Cnot provided [RCV000887900]likely benign68556758385567583Humanname
15105726CV730488single nucleotide variantNM_013322.3(SNX10):c.312-8T>Anot provided [RCV000893136]benign72637181326371813Humanname
15174555CV744159deletionNM_153816.6(SNX14):c.868-8delSNX14-related disorder [RCV003923074]|not provided [RCV000905992]benign|likely benign68554755885547558Human1name , trait , alternate_id
15190944CV744337single nucleotide variantNM_013322.3(SNX10):c.212+4A>TAutosomal recessive osteopetrosis 8 [RCV002479046]|SNX10-related disorder [RCV003932969]|not provided [RCV000910101]benign|likely benign72636463926364639Human1name , trait , alternate_id
15150941CV759516single nucleotide variantNM_153816.6(SNX14):c.994-5T>ASNX14-related disorder [RCV003960423]|not provided [RCV000923571]benign|likely benign|conflicting interpretations of pathogenicity68554723185547231Human1name , trait , alternate_id
15111069CV775251single nucleotide variantNM_153816.6(SNX14):c.867+6A>Cnot provided [RCV000938679]benign|likely benign|conflicting interpretations of pathogenicity68554829585548295Humanname
15185230CV777842single nucleotide variantNM_013322.3(SNX10):c.312-6A>Tnot provided [RCV000952919]likely benign72637181526371815Humanname
126909064CV1053084single nucleotide variantNM_153816.6(SNX14):c.1476-8A>GNeurodevelopmental disorder [RCV001374928]uncertain significance68553693285536932Human1name
150413709CV1176827single nucleotide variantNM_153816.6(SNX14):c.550-12G>Anot provided [RCV001547882]benign|likely benign68555807285558072Humanname
150415616CV1190564single nucleotide variantNM_153816.6(SNX14):c.140+57G>Anot provided [RCV001568065]likely benign68559352285593522Humanname
150465160CV1201030microsatelliteNM_153816.6(SNX14):c.*252GA[1]not provided [RCV001587510]likely benign68550571285505713Humanname
150455256CV1246889single nucleotide variantNM_153816.6(SNX14):c.141-59G>Anot provided [RCV001668657]benign68557443785574437Humanname
150491275CV1267750single nucleotide variantNM_013322.3(SNX10):c.112-84G>Anot provided [RCV001687775]benign72636445126364451Humanname
152142468CV1538237single nucleotide variantNM_013322.3(SNX10):c.212+15G>Anot provided [RCV002219556]likely benign72636465026364650Humanname
152081241CV1554635deletionNM_013322.3(SNX10):c.525-16delnot provided [RCV002193045]benign72637247126372471Humanname
152124552CV1587438single nucleotide variantNM_013322.3(SNX10):c.212+19A>Gnot provided [RCV002136150]likely benign72636465426364654Humanname
152063846CV1644862single nucleotide variantNM_013322.3(SNX10):c.112-15A>Cnot provided [RCV002147128]likely benign72636452026364520Humanname
152111290CV1651318single nucleotide variantNM_013322.3(SNX10):c.111+11A>Cnot provided [RCV002134518]likely benign72636107226361072Humanname
152047630CV1654024single nucleotide variantNM_013322.3(SNX10):c.311+16C>Gnot provided [RCV002088739]likely benign72636516126365161Humanname
153348823CV1692868deletionNM_153816.6(SNX14):c.2149-4delnot provided [RCV002274724]conflicting interpretations of pathogenicity|uncertain significance68551787985517879Humanname
10044326CV188146single nucleotide variantNM_153816.6(SNX14):c.1894+1G>TAutosomal recessive spinocerebellar ataxia 20 [RCV000170505]|SNX14-related disorder [RCV004752768]pathogenic|likely pathogenic68553019185530191Human1name , trait , alternate_id
156200892CV1916765deletionNM_153816.6(SNX14):c.2269-8delnot provided [RCV002595698]benign68551463785514637Humanname
155947737CV1921721duplicationNM_153816.6(SNX14):c.1609-5dupnot provided [RCV002616043]benign68553380485533805Humanname
156147463CV1932288single nucleotide variantNM_153816.6(SNX14):c.2558-4T>Gnot provided [RCV002623885]likely benign68551389985513899Humanname
156344661CV1958107single nucleotide variantNM_153816.6(SNX14):c.550-15C>Tnot provided [RCV002580702]likely benign68555807585558075Humanname
156396372CV1959014deletionNM_153816.6(SNX14):c.338+12delnot provided [RCV002584402]likely benign68557228685572286Humanname
156280250CV1964354single nucleotide variantNM_153816.6(SNX14):c.792-20A>Gnot provided [RCV002577456]benign68554839685548396Humanname
156415986CV1983857single nucleotide variantNM_013322.3(SNX10):c.524+11G>Anot provided [RCV002609939]likely benign72637204426372044Humanname
156173788CV2000172single nucleotide variantNM_153816.6(SNX14):c.2803-3T>Gnot provided [RCV002642803]uncertain significance68550600885506008Humanname
156395313CV2012185single nucleotide variantNM_013322.3(SNX10):c.112-15A>Gnot provided [RCV002725491]likely benign72636452026364520Humanname
155953947CV2014181single nucleotide variantNM_153816.6(SNX14):c.994-13C>Tnot provided [RCV002686168]likely benign68554723985547239Humanname
156178451CV2020374single nucleotide variantNM_153816.6(SNX14):c.634+19A>Gnot provided [RCV002710703]likely benign68555795785557957Humanname
155961188CV2040477single nucleotide variantNM_153816.6(SNX14):c.140+14G>Tnot provided [RCV002776275]likely benign68559356585593565Humanname
156236134CV2072539single nucleotide variantNM_153816.6(SNX14):c.1390-2A>Gnot provided [RCV002830237]likely pathogenic68554204585542045Humanname
156109581CV2072630single nucleotide variantNM_013322.3(SNX10):c.213-20T>Anot provided [RCV002870840]uncertain significance72636502726365027Humanname
156089125CV2092271single nucleotide variantNM_153816.6(SNX14):c.1449-4G>TSNX14-related disorder [RCV003926476]|not provided [RCV002912974]benign|likely benign68553886885538868Human1name , trait , alternate_id
156369426CV2109606single nucleotide variantNM_013322.3(SNX10):c.525-20C>Tnot provided [RCV002942208]likely benign72637247126372471Humanname
156090798CV2172840single nucleotide variantNM_153816.6(SNX14):c.1449-3C>Gnot provided [RCV003054352]uncertain significance68553886785538867Humanname
401724027CV2737942single nucleotide variantNM_153816.6(SNX14):c.2746-2A>GAutosomal recessive spinocerebellar ataxia 20 [RCV003315114]|not provided [RCV004823144]likely pathogenic68550729185507291Human1name
401724036CV2737946single nucleotide variantNM_153816.6(SNX14):c.2148+1G>TAutosomal recessive spinocerebellar ataxia 20 [RCV003315118]pathogenic68551800785518007Human1name
405176412CV2860879single nucleotide variantNM_013322.3(SNX10):c.112-10C>Tnot provided [RCV003542798]likely benign72636452526364525Humanname
402486801CV2865417single nucleotide variantNM_013322.3(SNX10):c.525-14C>Tnot provided [RCV003544551]likely benign72637247726372477Humanname
405223458CV2919101single nucleotide variantNM_013322.3(SNX10):c.525-20C>Anot provided [RCV003568780]likely benign72637247126372471Humanname
405118259CV2949751single nucleotide variantNM_013322.3(SNX10):c.111+11A>Gnot provided [RCV003667159]likely benign72636107226361072Humanname
405158467CV2961031single nucleotide variantNM_153816.6(SNX14):c.635-11A>Cnot provided [RCV003670503]likely benign68554989085549890Humanname
405225355CV3042154single nucleotide variantNM_153816.6(SNX14):c.868-20T>Cnot provided [RCV003710602]likely benign68554757085547570Humanname
405135787CV3115693single nucleotide variantNM_153816.6(SNX14):c.338+15T>Cnot provided [RCV003816350]likely benign68557228385572283Humanname
405192010CV3118182single nucleotide variantNM_153816.6(SNX14):c.141-14C>Tnot provided [RCV003821092]likely benign68557439285574392Humanname
405048233CV3141710single nucleotide variantNM_013322.3(SNX10):c.311+13A>Cnot provided [RCV003831811]likely benign72636515826365158Humanname
405200964CV3143500single nucleotide variantNM_153816.6(SNX14):c.912+14A>Gnot provided [RCV003844486]likely benign68554749285547492Humanname
405129018CV3163300single nucleotide variantNM_013322.3(SNX10):c.213-19G>Tnot provided [RCV003854481]likely benign72636502826365028Humanname
404992743CV3176375single nucleotide variantNM_153816.6(SNX14):c.461+14A>Gnot provided [RCV003881807]benign68556752085567520Humanname
407507326CV3496268single nucleotide variantNM_153816.6(SNX14):c.2148+1G>Anot provided [RCV004698109]pathogenic68551800785518007Humanname
12849144CV364068single nucleotide variantNM_153816.6(SNX14):c.1608+1G>Cnot provided [RCV000424791]likely pathogenic68553679185536791Humanname
597852229CV3758549single nucleotide variantNM_013322.3(SNX10):c.213-10T>Gnot provided [RCV005088108]likely benign72636503726365037Humanname
597931151CV3827063single nucleotide variantNM_013322.3(SNX10):c.311+15A>Gnot provided [RCV005157076]likely benign72636516026365160Humanname
597910994CV3854262single nucleotide variantNM_153816.6(SNX14):c.1476-1G>Anot provided [RCV005203532]likely pathogenic68553692585536925Humanname
597922048CV3861864single nucleotide variantNM_153816.6(SNX14):c.1390-1G>Cnot provided [RCV005205240]likely pathogenic68554204485542044Humanname
616937485CV4013477single nucleotide variantNM_153816.6(SNX14):c.1811-8A>GAutosomal recessive spinocerebellar ataxia 20 [RCV005411040]pathogenic68553028385530283Human1name
12894115CV406940single nucleotide variantNM_153816.6(SNX14):c.2557+1G>AAutosomal recessive spinocerebellar ataxia 20 [RCV001824804]|not provided [RCV000481561]likely pathogenic|not provided68551406985514069Human1name
15155885CV744252single nucleotide variantNM_153816.6(SNX14):c.1995+5A>Tnot provided [RCV000902225]likely benign68552825785528257Humanname
15178047CV779324single nucleotide variantNM_015132.5(SNX13):c.440+10C>Tnot provided [RCV000973570]benign71789035317890353Humanname
21071525CV790664single nucleotide variantNM_153816.6(SNX14):c.1608+1G>TAutosomal recessive spinocerebellar ataxia 20 [RCV000987749]pathogenic68553679185536791Human1name
150408791CV1176825single nucleotide variantNM_153816.6(SNX14):c.2745+53G>Tnot provided [RCV001546021]likely benign68550791585507915Humanname
150419682CV1180235single nucleotide variantNM_153816.6(SNX14):c.1894+43G>Anot provided [RCV001551175]likely benign68553014985530149Humanname
150422912CV1180236single nucleotide variantNM_153816.6(SNX14):c.261+158C>Tnot provided [RCV001553295]likely benign68557410085574100Humanname
150428172CV1187140single nucleotide variantNM_153816.6(SNX14):c.1108+47A>Cnot provided [RCV001561908]likely benign68554706585547065Humanname
150427807CV1187141single nucleotide variantNM_153816.6(SNX14):c.262-168T>Anot provided [RCV001561419]likely benign68557254285572542Humanname
150405585CV1190562single nucleotide variantNM_153816.6(SNX14):c.461+132A>Gnot provided [RCV001564349]likely benign68556740285567402Humanname
150414277CV1190563single nucleotide variantNM_153816.6(SNX14):c.417+273C>Tnot provided [RCV001567465]likely benign68557186485571864Humanname
150406725CV1193837deletionNM_153816.6(SNX14):c.1390-91delnot provided [RCV001572108]likely benign68554213485542134Humanname
150417547CV1197590single nucleotide variantNM_153816.6(SNX14):c.2745+53G>Anot provided [RCV001576344]likely benign68550791585507915Humanname
150417926CV1197592single nucleotide variantNM_153816.6(SNX14):c.635-188G>Tnot provided [RCV001576519]likely benign68555006785550067Humanname
150480252CV1207980single nucleotide variantNM_153816.6(SNX14):c.2268+31G>Anot provided [RCV001590257]likely benign68551772585517725Humanname
150448561CV1214994single nucleotide variantNM_013322.3(SNX10):c.-23-331T>Cnot provided [RCV001611583]benign72634608926346089Humanname
150444405CV1216625single nucleotide variantNM_153816.6(SNX14):c.2653+47G>Anot provided [RCV001610924]benign68551375385513753Humanname
150433324CV1216872single nucleotide variantNM_153816.6(SNX14):c.2746-83A>Gnot provided [RCV001608774]benign68550737285507372Humanname
150472239CV1217148single nucleotide variantNM_153816.6(SNX14):c.791+128T>Anot provided [RCV001615443]benign68554959585549595Humanname
150515363CV1217467single nucleotide variantNM_153816.6(SNX14):c.1475+96A>Gnot provided [RCV001608373]benign68553874285538742Humanname
150499363CV1224577single nucleotide variantNM_153816.6(SNX14):c.2746-72T>Cnot provided [RCV001620408]benign68550736185507361Humanname
150508020CV1227032duplicationNM_153816.6(SNX14):c.261+127dupnot provided [RCV001636105]benign68557411985574120Humanname
150508571CV1229677single nucleotide variantNM_013322.3(SNX10):c.-23-333C>Tnot provided [RCV001636255]benign72634608726346087Humanname
150450350CV1232670deletionNM_153816.6(SNX14):c.461+182delnot provided [RCV001647745]benign68556735285567352Humanname
150446175CV1233301single nucleotide variantNM_153816.6(SNX14):c.140+206C>Tnot provided [RCV001645975]benign68559337385593373Humanname
150491241CV1239248single nucleotide variantNM_153816.6(SNX14):c.1895-22C>Anot provided [RCV001654816]benign68552838485528384Humanname
150472503CV1252255single nucleotide variantNM_153816.6(SNX14):c.140+153G>Cnot provided [RCV001671456]benign68559342685593426Humanname
150507342CV1256909single nucleotide variantNM_153816.6(SNX14):c.791+236T>Cnot provided [RCV001678412]benign68554948785549487Humanname
150507668CV1257195single nucleotide variantNM_013322.3(SNX10):c.112-354A>Gnot provided [RCV001678494]benign72636418126364181Humanname
150480677CV1258771single nucleotide variantNM_153816.6(SNX14):c.868-267G>Tnot provided [RCV001685901]benign68554781785547817Humanname
150445737CV1261248single nucleotide variantNM_153816.6(SNX14):c.867+145T>Gnot provided [RCV001679922]benign68554815685548156Humanname
150486871CV1262646duplicationNM_153816.6(SNX14):c.261+140dupnot provided [RCV001687043]benign68557411085574111Humanname
150467067CV1268879single nucleotide variantNM_153816.6(SNX14):c.1476-67G>Tnot provided [RCV001694576]benign68553699185536991Humanname
150463579CV1276245single nucleotide variantNM_013322.3(SNX10):c.-23-214T>Gnot provided [RCV001710190]benign72634620626346206Humanname
150477569CV1279473single nucleotide variantNM_153816.6(SNX14):c.1811-15G>Anot provided [RCV001714150]benign68553029085530290Humanname
150482578CV1280014duplicationNM_153816.6(SNX14):c.1476-82dupnot provided [RCV001715045]benign68553699885536999Humanname
152040176CV1669686single nucleotide variantNM_153816.6(SNX14):c.1811-31G>Anot provided [RCV002224587]uncertain significance68553030685530306Humanname
156406189CV1963512single nucleotide variantNM_153816.6(SNX14):c.2269-12C>Anot provided [RCV002585820]likely benign68551464185514641Humanname
156406410CV1963610single nucleotide variantNM_153816.6(SNX14):c.1265-15G>Tnot provided [RCV002585900]benign68554332185543321Humanname
156009030CV1989586single nucleotide variantNM_153816.6(SNX14):c.2802+18A>Cnot provided [RCV002636125]likely benign68550721585507215Humanname
156357096CV2020116single nucleotide variantNM_153816.6(SNX14):c.1810+14T>Gnot provided [RCV002720607]uncertain significance68553358585533585Humanname
156066116CV2022347single nucleotide variantNM_153816.6(SNX14):c.1109-17A>Gnot provided [RCV002760172]likely benign68554377785543777Humanname
155975121CV2031892single nucleotide variantNM_153816.6(SNX14):c.1895-11A>Gnot provided [RCV002755066]likely benign68552837385528373Humanname
156144812CV2037256single nucleotide variantNM_153816.6(SNX14):c.2557+16T>Anot provided [RCV002786649]likely benign68551405485514054Humanname
156134940CV2044294duplicationNM_153816.6(SNX14):c.1996-12dupAutosomal recessive spinocerebellar ataxia 20 [RCV003989784]|not provided [RCV002786311]benign|likely benign68552624885526249Human1name
156134976CV2044295single nucleotide variantNM_153816.6(SNX14):c.1475+14A>Gnot provided [RCV002786312]likely benign68553882485538824Humanname
156219660CV2047836single nucleotide variantNM_153816.6(SNX14):c.2745+20G>Anot provided [RCV002790580]benign68550794885507948Humanname
155905893CV2048140single nucleotide variantNM_153816.6(SNX14):c.2745+19C>Gnot provided [RCV002771262]likely benign68550794985507949Humanname
156185147CV2086513single nucleotide variantNM_153816.6(SNX14):c.1475+14A>Cnot provided [RCV002851959]likely benign68553882485538824Humanname
156273911CV2187568single nucleotide variantNM_153816.6(SNX14):c.1608+12G>Anot provided [RCV003044548]likely benign68553678085536780Humanname
401724592CV2472759single nucleotide variantNM_153816.6(SNX14):c.462-589A>GAutosomal recessive spinocerebellar ataxia 20 [RCV003315269]likely pathogenic68556600885566008Human1name
405224638CV3142222single nucleotide variantNM_153816.6(SNX14):c.1996-20G>Anot provided [RCV003847761]likely benign68552625785526257Humanname
405201451CV3143499single nucleotide variantNM_153816.6(SNX14):c.1448+11T>Cnot provided [RCV003844485]likely benign68554197485541974Humanname
405197523CV3168277single nucleotide variantNM_153816.6(SNX14):c.1476-19A>Gnot provided [RCV003860409]likely benign68553694385536943Humanname
405293544CV3214273single nucleotide variantNM_013322.3(SNX10):c.25-3869G>ASNX10-related disorder [RCV003931974]likely benign72635710626357106Humanname , trait , alternate_id
597955597CV3754440single nucleotide variantNM_153816.6(SNX14):c.2802+16T>Cnot provided [RCV005080290]likely benign68550721785507217Humanname
597898646CV3806980single nucleotide variantNM_153816.6(SNX14):c.1448+16T>Cnot provided [RCV005152367]likely benign68554196985541969Humanname
598224451CV3892000single nucleotide variantNM_153816.6(SNX14):c.2269-13A>GAutosomal recessive spinocerebellar ataxia 20 [RCV005253339]uncertain significance68551464285514642Human1name
150336019CV1171630single nucleotide variantNM_153816.6(SNX14):c.1109-119G>Anot provided [RCV001540804]likely benign68554387985543879Humanname
150408147CV1176826single nucleotide variantNM_153816.6(SNX14):c.1475+171A>Gnot provided [RCV001545798]likely benign68553866785538667Humanname
150423484CV1183889single nucleotide variantNM_153816.6(SNX14):c.2269-167C>Tnot provided [RCV001555383]likely benign68551479685514796Humanname
150427054CV1187138single nucleotide variantNM_153816.6(SNX14):c.1810+254A>Gnot provided [RCV001560408]likely benign68553334585533345Humanname
150413003CV1190561single nucleotide variantNM_153816.6(SNX14):c.1449-264C>Anot provided [RCV001567076]likely benign68553912885539128Humanname
150412194CV1197591deletionNM_153816.6(SNX14):c.2654-262delnot provided [RCV001574287]likely benign68550832185508321Humanname
150466763CV1206201single nucleotide variantNM_153816.6(SNX14):c.1389+159G>Anot provided [RCV001587776]likely benign68554302385543023Humanname
150504312CV1212658single nucleotide variantNM_153816.6(SNX14):c.2653+202A>Gnot provided [RCV001595533]benign68551359885513598Humanname
150513859CV1227936single nucleotide variantNM_153816.6(SNX14):c.2653+205C>Tnot provided [RCV001638214]benign68551359585513595Humanname
150513033CV1228876single nucleotide variantNM_153816.6(SNX14):c.1811-154C>Tnot provided [RCV001637718]benign68553042985530429Humanname
150488241CV1237449duplicationNM_153816.6(SNX14):c.2654-281dupnot provided [RCV001654298]benign68550832085508321Humanname
150469826CV1243221single nucleotide variantNM_153816.6(SNX14):c.2108-113T>Cnot provided [RCV001650742]benign68551816185518161Humanname
150509132CV1245287single nucleotide variantNM_153816.6(SNX14):c.1811-229C>Gnot provided [RCV001659255]benign68553050485530504Humanname
150475231CV1251687single nucleotide variantNM_153816.6(SNX14):c.1995+183T>Cnot provided [RCV001671885]benign68552807985528079Humanname
150480103CV1258369single nucleotide variantNM_153816.6(SNX14):c.1996-233G>Tnot provided [RCV001685788]benign68552647085526470Humanname
150473533CV1262918single nucleotide variantNM_153816.6(SNX14):c.2745+238C>Anot provided [RCV001684734]benign68550773085507730Humanname
150440493CV1265117single nucleotide variantNM_153816.6(SNX14):c.1109-123A>Gnot provided [RCV001679110]benign68554388385543883Humanname
150439861CV1266835single nucleotide variantNM_153816.6(SNX14):c.1995+181C>Tnot provided [RCV001690270]benign68552808185528081Humanname
150465633CV1268642single nucleotide variantNM_153816.6(SNX14):c.2803-174G>Anot provided [RCV001694338]benign68550617985506179Humanname
150467468CV1269235single nucleotide variantNM_153816.6(SNX14):c.2393-101A>Cnot provided [RCV001694643]benign68551433585514335Humanname
150475383CV1271185duplicationNM_153816.6(SNX14):c.1108+128dupnot provided [RCV001696008]benign68554696585546966Humanname
8650691CV127266single nucleotide variantNM_022133.3(SNX16):c.376-2474C>TLung cancer [RCV000107753]uncertain significance88183199081831990Humanname
150476020CV1279175single nucleotide variantNM_153816.6(SNX14):c.1389+226A>Gnot provided [RCV001713924]benign68554295685542956Humanname
8653160CV129735single nucleotide variantNM_013306.4(SNX15):c.664+1249T>ALung cancer [RCV000110222]uncertain significance116503691265036912Humanname
151348014CV1325241duplicationNM_153816.6(SNX14):c.1109-188dupnot provided [RCV001813883]likely benign68554394785543948Humanname
404978595CV3127443microsatelliteNM_013322.3(SNX10):c.525-16CT[2]not provided [RCV003825667]likely benign72637247526372476Humanname
150460633CV1253135microsatelliteNM_153816.6(SNX14):c.261+190TAT[2]not provided [RCV001669464]benign68557406085574062Humanname
156273292CV2283818single nucleotide variantNM_001102575.2(SNX18):c.1621+55G>Anot specified [RCV004142333]uncertain significance55451962854519628Humanname
405189251CV2974239microsatelliteNM_153816.6(SNX14):c.2746-26ATT[3]not provided [RCV003677006]likely benign68550730485507306Humanname
150505687CV1222949microsatelliteNM_153816.6(SNX14):c.141-9_141-6delSNX14-related disorder [RCV003980812]|not provided [RCV001621884]benign68557438485574387Humanname , trait , alternate_id
156249078CV2215515single nucleotide variantNM_001102575.2(SNX18):c.1621+132G>Anot specified [RCV004089299]uncertain significance55451970554519705Humanname
155983841CV2344352single nucleotide variantNM_001102575.2(SNX18):c.1621+193A>Gnot specified [RCV004195108]uncertain significance55451976654519766Humanname
156255312CV2359353single nucleotide variantNM_001102575.2(SNX18):c.1621+250C>Tnot specified [RCV004212632]uncertain significance55451982354519823Humanname
156060143CV2391846single nucleotide variantNM_001102575.2(SNX18):c.1621+211A>Cnot specified [RCV004235723]uncertain significance55451978454519784Humanname
329385479CV2432159single nucleotide variantNM_001102575.2(SNX18):c.1621+118G>Tnot specified [RCV004249305]uncertain significance55451969154519691Humanname
401883705CV2785741single nucleotide variantNM_001102575.2(SNX18):c.1621+210G>Anot specified [RCV004364996]uncertain significance55451978354519783Humanname
405248032CV2977467deletionNM_013322.3(SNX10):c.25-19_25-16delnot provided [RCV003720988]likely benign72636095326360956Humanname
405732747CV3322589single nucleotide variantNM_001102575.2(SNX18):c.1621+261T>Cnot specified [RCV004464551]uncertain significance55451983454519834Humanname
407503951CV3484803single nucleotide variantNM_001102575.2(SNX18):c.1621+228G>Tnot specified [RCV004670390]uncertain significance55451980154519801Humanname
597745330CV3607263single nucleotide variantNM_001102575.2(SNX18):c.1621+130A>Gnot specified [RCV004865648]uncertain significance55451970354519703Humanname
598171758CV3911694single nucleotide variantNM_001102575.2(SNX18):c.1621+202T>Cnot specified [RCV005284929]uncertain significance55451977554519775Humanname
152029195CV1653069deletionNM_013322.3(SNX10):c.212+20_212+21delnot provided [RCV002085719]likely benign72636465526364656Humanname
156204823CV1959215deletionNM_153816.6(SNX14):c.994-24_994-19delnot provided [RCV002574918]likely benign|uncertain significance68554724585547250Humanname
405145519CV2962588duplicationNM_013322.3(SNX10):c.311+11_311+18dupnot provided [RCV003673609]likely benign72636515526365156Humanname
150476830CV1218539duplicationNM_153816.6(SNX14):c.261+127_261+128dupnot provided [RCV001616166]benign68557411985574120Humanname
150450768CV1232717duplicationNM_153816.6(SNX14):c.262-193_262-187dupnot provided [RCV001647792]benign68557256085572561Humanname
150462882CV1263724deletionNM_153816.6(SNX14):c.261+124_261+126delnot provided [RCV001682425]benign68557413285574134Humanname
156080586CV1959925deletionNM_153816.6(SNX14):c.1995+20_1995+23delnot provided [RCV002569897]benign68552823985528242Humanname
155936548CV2075255deletionNM_153816.6(SNX14):c.1608+17_1608+21delnot provided [RCV002839117]likely benign68553677185536775Humanname
12896766CV390597duplicationNM_015132.5(SNX13):c.1954-22_1954-21dupnot specified [RCV000455793]benign71781495217814953Humanname
150426426CV1187139microsatelliteNM_153816.6(SNX14):c.1476-232_1476-229delnot provided [RCV001559569]likely benign68553715385537156Humanname
21404938CV801086deletionNM_153816.6(SNX14):c.550-2454_634+1868delSeizure [RCV001003859]likely pathogenic68555610885560514Human2name
150476287CV1216789insertionNM_153816.6(SNX14):c.549+220_549+221insTGTTnot provided [RCV001616082]benign68556511185565112Humanname
10044324CV188144deletionNM_153816.2(SNX14):c.1108+1181_2108-2342delAutosomal recessive spinocerebellar ataxia 20 [RCV000170503]pathogenicHuman1name
405267508CV3186846deletionNM_153816.6(SNX14):c.2108-3655_2108-3635delnot provided [RCV003886929]uncertain significance68552168385521703Humanname
150544993CV1315369single nucleotide variantNM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV001783786]|SNX14-related disorder [RCV003416452]|not provided [RCV002541213]pathogenic|likely pathogenic68557426785574267Human1name , trait , alternate_id
152051577CV1617078single nucleotide variantNM_013322.3(SNX10):c.504T>C (p.Asp168=)SNX10-related disorder [RCV003923443]|not provided [RCV002072452]likely benign72637201326372013Human1name , trait , alternate_id
152115518CV1637195single nucleotide variantNM_013322.3(SNX10):c.537G>A (p.Gly179=)SNX10-related disorder [RCV003923547]|not provided [RCV002216075]benign|likely benign72637250326372503Human1name , trait , alternate_id
152119098CV1664678single nucleotide variantNM_013322.3(SNX10):c.162T>C (p.Tyr54=)SNX10-related disorder [RCV003958715]|not provided [RCV002117608]likely benign72636458526364585Human1name , trait , alternate_id
156371203CV1901358single nucleotide variantNM_153816.6(SNX14):c.1710A>G (p.Pro570=)SNX14-related disorder [RCV003963666]|not provided [RCV002582426]likely benign|uncertain significance68553369985533699Human1name , trait , alternate_id
401904423CV2798059single nucleotide variantNM_153816.6(SNX14):c.1345C>T (p.Leu449Phe)SNX14-related disorder [RCV003422452]uncertain significance68554322685543226Humanname , trait , alternate_id
405259083CV3194505single nucleotide variantNM_014748.4(SNX17):c.318A>G (p.Gln106=)SNX17-related disorder [RCV003893902]likely benign22737330827373308Humanname , trait , alternate_id
405276153CV3203146single nucleotide variantNM_153816.6(SNX14):c.915T>C (p.Pro305=)SNX14-related disorder [RCV003941759]likely benign68554739585547395Humanname , trait , alternate_id
405291007CV3203919single nucleotide variantNM_014748.4(SNX17):c.1223A>C (p.Asp408Ala)SNX17-related disorder [RCV003927361]likely benign22737635327376353Humanname , trait , alternate_id
405276816CV3211770single nucleotide variantNM_153816.6(SNX14):c.1800T>C (p.Asp600=)SNX14-related disorder [RCV003947063]likely benign68553360985533609Humanname , trait , alternate_id
405282418CV3212910single nucleotide variantNM_014748.4(SNX17):c.873C>T (p.Ser291=)SNX17-related disorder [RCV003957031]likely benign22737560427375604Humanname , trait , alternate_id
405279662CV3217583single nucleotide variantNM_153816.6(SNX14):c.1818C>T (p.His606=)SNX14-related disorder [RCV003976965]|not provided [RCV005103098]likely benign68553026885530268Human1name , trait , alternate_id
15160884CV710633single nucleotide variantNM_153816.6(SNX14):c.1239C>T (p.Pro413=)SNX14-related disorder [RCV003918422]|not provided [RCV000969987]benign|likely benign68554363085543630Human1name , trait , alternate_id
15110091CV722164single nucleotide variantNM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)SNX14-related disorder [RCV003950432]|not provided [RCV000893992]|not specified [RCV002249573]likely benign|conflicting interpretations of pathogenicity|uncertain significance68554714585547145Human1name , trait , alternate_id
15116969CV735804single nucleotide variantNM_153816.6(SNX14):c.1074C>T (p.Gly358=)SNX14-related disorder [RCV003968180]|not provided [RCV000895296]likely benign|conflicting interpretations of pathogenicity68554714685547146Human1name , trait , alternate_id
15196787CV750263single nucleotide variantNM_153816.6(SNX14):c.99C>T (p.Phe33=)SNX14-related disorder [RCV003932991]|not provided [RCV000911794]likely benign68559362085593620Human1name , trait , alternate_id
152092731CV1631854single nucleotide variantNM_013322.3(SNX10):c.9G>A (p.Pro3=)not provided [RCV002132246]benign72634645126346451Humanname
15166853CV722167single nucleotide variantNM_153816.6(SNX14):c.9C>T (p.Pro3=)not provided [RCV000882723]likely benign68559371085593710Humanname
597951413CV3843299single nucleotide variantNM_013322.3(SNX10):c.12A>G (p.Glu4=)not provided [RCV005190349]likely benign72634645426346454Humanname
15111363CV768311single nucleotide variantNM_014758.3(SNX19):c.15A>G (p.Thr5=)not provided [RCV000938734]likely benign11130915925130915925Humanname
151765149CV1407757single nucleotide variantNM_013322.3(SNX10):c.8C>T (p.Pro3Leu)not provided [RCV002044704]uncertain significance72634645026346450Humanname
156230897CV2048679single nucleotide variantNM_013322.3(SNX10):c.45T>G (p.Val15=)not provided [RCV002790994]likely benign72636099526360995Humanname
404978784CV3013137single nucleotide variantNM_013322.3(SNX10):c.33A>G (p.Val11=)not provided [RCV003690852]likely benign72636098326360983Humanname
405732478CV3322556single nucleotide variantNM_153816.6(SNX14):c.4G>A (p.Val2Met)Inborn genetic diseases [RCV004464518]uncertain significance68559371585593715Human1name
15178345CV768310single nucleotide variantNM_014758.3(SNX19):c.39A>C (p.Pro13=)not provided [RCV000929376]likely benign11130915901130915901Humanname
151852032CV1360851single nucleotide variantNM_013322.3(SNX10):c.22G>A (p.Glu8Lys)not provided [RCV001904226]uncertain significance72634646426346464Humanname
151808721CV1474846single nucleotide variantNM_013322.3(SNX10):c.237A>G (p.Lys79=)not provided [RCV001932983]likely benign|uncertain significance72636507126365071Humanname
151767390CV1492985single nucleotide variantNM_013322.3(SNX10):c.16C>T (p.Gln6Ter)not provided [RCV001914643]pathogenic72634645826346458Humanname
152142146CV1533090single nucleotide variantNM_013322.3(SNX10):c.204G>A (p.Ala68=)not provided [RCV002156913]likely benign72636462726364627Humanname
152164642CV1611088single nucleotide variantNM_013322.3(SNX10):c.219G>C (p.Leu73=)not provided [RCV002141562]likely benign72636505326365053Humanname
156435597CV1944031single nucleotide variantNM_153816.6(SNX14):c.204A>G (p.Ser68=)not provided [RCV003109044]likely benign68557431585574315Humanname
156375392CV1960162single nucleotide variantNM_153816.6(SNX14):c.279A>G (p.Glu93=)not provided [RCV002582759]likely benign68557235785572357Humanname
156007579CV1981279single nucleotide variantNM_013322.3(SNX10):c.270C>T (p.His90=)not provided [RCV002618740]likely benign72636510426365104Humanname
155947421CV2234813single nucleotide variantNM_014758.3(SNX19):c.23C>T (p.Pro8Leu)not specified [RCV004113040]uncertain significance11130915917130915917Humanname
405239732CV2993322single nucleotide variantNM_013322.3(SNX10):c.17A>C (p.Gln6Pro)not provided [RCV003718875]uncertain significance72634645926346459Humanname
402467833CV3174188single nucleotide variantNM_013322.3(SNX10):c.178C>T (p.Leu60=)not provided [RCV003873471]likely benign72636460126364601Humanname
405732307CV3326373single nucleotide variantNM_013323.3(SNX11):c.231G>A (p.Val77=)not specified [RCV004464497]likely benign174811870448118704Humanname
597865922CV3742336single nucleotide variantNM_153816.6(SNX14):c.189C>T (p.Val63=)not provided [RCV005067952]likely benign68557433085574330Humanname
597831005CV3743740single nucleotide variantNM_013322.3(SNX10):c.129T>C (p.Phe43=)not provided [RCV005062557]likely benign72636455226364552Humanname
597938948CV3852940single nucleotide variantNM_153816.6(SNX14):c.234A>T (p.Ile78=)not provided [RCV005187341]likely benign68557428585574285Humanname
597911032CV3854256single nucleotide variantNM_013322.3(SNX10):c.243G>A (p.Leu81=)not provided [RCV005203526]likely benign72636507726365077Humanname
15135027CV750597single nucleotide variantNM_013322.3(SNX10):c.171C>T (p.Phe57=)not provided [RCV000920783]likely benign72636459426364594Humanname
15164503CV750598single nucleotide variantNM_013322.3(SNX10):c.234T>C (p.Ser78=)not provided [RCV000926397]likely benign72636506826365068Humanname
15138347CV782845single nucleotide variantNM_013322.3(SNX10):c.198T>C (p.Ser66=)not provided [RCV000982457]likely benign72636462126364621Humanname
151857210CV1348009single nucleotide variantNM_013322.3(SNX10):c.94T>G (p.Tyr32Asp)not provided [RCV001979672]uncertain significance72636104426361044Humanname
151852379CV1376062single nucleotide variantNM_013322.3(SNX10):c.80A>G (p.His27Arg)Inborn genetic diseases [RCV002625412]|not provided [RCV001996132]uncertain significance72636103026361030Human1name
151736399CV1387764single nucleotide variantNM_013322.3(SNX10):c.459T>C (p.Asn153=)not provided [RCV002005349]likely benign|uncertain significance72637196826371968Humanname
151796982CV1392714single nucleotide variantNM_013322.3(SNX10):c.88A>G (p.Ile30Val)not provided [RCV001898707]uncertain significance72636103826361038Humanname
151712759CV1423368deletionNM_013322.3(SNX10):c.230del (p.Pro77fs)not provided [RCV002002304]pathogenic72636506326365063Humanname
151756858CV1426224single nucleotide variantNM_013322.3(SNX10):c.87C>A (p.Tyr29Ter)not provided [RCV002007416]pathogenic72636103726361037Humanname
8696082CV143196single nucleotide variantNM_013322.3(SNX10):c.46C>T (p.Arg16Ter)Autosomal recessive osteopetrosis 8 [RCV000128452]|not provided [RCV001849913]pathogenic72636099626360996Human1name
151813754CV1494652single nucleotide variantNM_013322.3(SNX10):c.42G>T (p.Trp14Cys)not provided [RCV001954081]uncertain significance72636099226360992Humanname
152145456CV1582667single nucleotide variantNM_013322.3(SNX10):c.354C>T (p.His118=)not provided [RCV002201169]likely benign72637186326371863Humanname
156437229CV1937059single nucleotide variantNM_153816.6(SNX14):c.507A>G (p.Thr169=)not provided [RCV003106760]likely benign68556537485565374Humanname
156440527CV1943578single nucleotide variantNM_013322.3(SNX10):c.396G>A (p.Ala132=)not provided [RCV003110562]likely benign72637190526371905Humanname
156377622CV1956938single nucleotide variantNM_153816.6(SNX14):c.996G>A (p.Val332=)not provided [RCV002582933]likely benign68554722485547224Humanname
156237057CV1973035single nucleotide variantNM_013322.3(SNX10):c.30T>G (p.Phe10Leu)not provided [RCV002597014]uncertain significance72636098026360980Humanname
156002564CV2045655single nucleotide variantNM_153816.6(SNX14):c.933G>A (p.Pro311=)not provided [RCV002756280]likely benign68554737785547377Humanname
156365151CV2167264single nucleotide variantNM_013322.3(SNX10):c.501T>C (p.Asn167=)not provided [RCV003031836]likely benign72637201026372010Humanname
156165873CV2184712single nucleotide variantNM_013322.3(SNX10):c.531C>G (p.Ser177=)not provided [RCV003057068]likely benign72637249726372497Humanname
156083777CV2299013single nucleotide variantNM_014758.3(SNX19):c.56A>G (p.His19Arg)not specified [RCV004158534]uncertain significance11130915884130915884Humanname
155972607CV2309425single nucleotide variantNM_015132.5(SNX13):c.64A>G (p.Ile22Val)not specified [RCV004165567]likely benign71789739517897395Humanname
156073044CV2325394single nucleotide variantNM_013306.5(SNX15):c.88G>C (p.Val30Leu)not specified [RCV004177761]uncertain significance116502762565027625Humanname
401747584CV2729862single nucleotide variantNM_153816.6(SNX14):c.94T>A (p.Cys32Ser)Inborn genetic diseases [RCV003288734]|not provided [RCV005102843]uncertain significance68559362585593625Human1name
405213769CV2879499single nucleotide variantNM_013322.3(SNX10):c.95A>C (p.Tyr32Ser)not provided [RCV003552950]likely pathogenic72636104526361045Humanname
405157020CV2890591single nucleotide variantNM_013322.3(SNX10):c.387C>T (p.Asp129=)not provided [RCV003562010]likely benign72637189626371896Humanname
402508742CV2892639single nucleotide variantNM_153816.6(SNX14):c.600G>A (p.Lys200=)not provided [RCV003554781]likely benign68555801085558010Humanname
405118947CV2955925single nucleotide variantNM_013322.3(SNX10):c.420C>T (p.Tyr140=)not provided [RCV003671255]likely benign72637192926371929Humanname
405732692CV3322583single nucleotide variantNM_014748.4(SNX17):c.53C>T (p.Ser18Phe)not specified [RCV004464545]uncertain significance22737079627370796Humanname
405732917CV3322611single nucleotide variantNM_014758.3(SNX19):c.29A>G (p.Gln10Arg)not specified [RCV004464573]uncertain significance11130915911130915911Humanname
407503966CV3484809single nucleotide variantNM_014758.3(SNX19):c.40G>C (p.Ala14Pro)not specified [RCV004670394]uncertain significance11130915900130915900Humanname
407503969CV3484810single nucleotide variantNM_014758.3(SNX19):c.61A>T (p.Asn21Tyr)not specified [RCV004670395]uncertain significance11130915879130915879Humanname
597741008CV3607227single nucleotide variantNM_013323.3(SNX11):c.74G>A (p.Arg25Gln)not specified [RCV004864773]uncertain significance174811260548112605Humanname
597741037CV3607252single nucleotide variantNM_152836.3(SNX16):c.34A>G (p.Ile12Val)not specified [RCV004864779]uncertain significance88183995381839953Humanname
597745377CV3607278single nucleotide variantNM_014758.3(SNX19):c.43G>A (p.Gly15Arg)not specified [RCV004865657]uncertain significance11130915897130915897Humanname
597741098CV3607285single nucleotide variantNM_014758.3(SNX19):c.80G>C (p.Arg27Pro)not specified [RCV004864792]uncertain significance11130915860130915860Humanname
597745408CV3607288single nucleotide variantNM_014758.3(SNX19):c.79C>T (p.Arg27Trp)not specified [RCV004865663]uncertain significance11130915861130915861Humanname
597703242CV3719046duplicationNM_013322.3(SNX10):c.86dup (p.Tyr29Ter)Autosomal recessive osteopetrosis 8 [RCV005033703]likely pathogenic72636103526361036Human1name
597842128CV3825654single nucleotide variantNM_013322.3(SNX10):c.603C>T (p.Ser201=)not provided [RCV005172337]likely benign72637256926372569Humanname
597975141CV3832242single nucleotide variantNM_153816.6(SNX14):c.756T>C (p.Phe252=)not provided [RCV005168978]likely benign68554975885549758Humanname
597831895CV3863981single nucleotide variantNM_153816.6(SNX14):c.28C>T (p.Gln10Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV005208396]likely pathogenic68559369185593691Human1name
598171664CV3911676single nucleotide variantNM_152836.3(SNX16):c.92G>A (p.Gly31Asp)not specified [RCV005284911]uncertain significance88183989581839895Humanname
616939911CV4014372single nucleotide variantNM_153816.6(SNX14):c.498G>A (p.Leu166=)not provided [RCV005413866]uncertain significance68556538385565383Humanname
15169150CV722165single nucleotide variantNM_153816.6(SNX14):c.516T>C (p.Phe172=)not provided [RCV000883208]benign|likely benign68556536585565365Humanname
15189377CV736095single nucleotide variantNM_013322.3(SNX10):c.339A>G (p.Ser113=)not provided [RCV000909632]benign72637184826371848Humanname
15193431CV750599single nucleotide variantNM_013322.3(SNX10):c.531C>T (p.Ser177=)not provided [RCV000910836]likely benign72637249726372497Humanname
15111230CV765898single nucleotide variantNM_153816.6(SNX14):c.561A>G (p.Pro187=)not provided [RCV000938710]likely benign68555804985558049Humanname
8630289CV85444single nucleotide variantNM_014748.3(SNX17):c.354C>T (p.Ser118=)Malignant melanoma [RCV000065527]not provided22737389327373893Humanname
126728969CV1016797single nucleotide variantNM_153816.6(SNX14):c.131T>C (p.Leu44Pro)Autosomal recessive spinocerebellar ataxia 20 [RCV001333018]uncertain significance68559358885593588Human1name
126728964CV1016798single nucleotide variantNM_153816.6(SNX14):c.119C>T (p.Ala40Val)Autosomal recessive spinocerebellar ataxia 20 [RCV001333017]uncertain significance68559360085593600Human1name
126775018CV1027995single nucleotide variantNM_013322.3(SNX10):c.271G>A (p.Val91Met)not provided [RCV001347894]uncertain significance72636510526365105Humanname
126909063CV1053085deletionNM_153816.6(SNX14):c.512del (p.Arg171fs)Neurodevelopmental disorder [RCV001374927]|not provided [RCV003120589]pathogenic|likely pathogenic68556536985565369Human1name
150516225CV1287262single nucleotide variantNM_153816.6(SNX14):c.295C>T (p.His99Tyr)Autosomal recessive spinocerebellar ataxia 20 [RCV001723254]uncertain significance68557234185572341Human1name
150535340CV1311855single nucleotide variantNM_153816.6(SNX14):c.159G>T (p.Met53Ile)Inborn genetic diseases [RCV004040795]|not provided [RCV001779665]uncertain significance68557436085574360Human1name
151753632CV1405330single nucleotide variantNM_013322.3(SNX10):c.143C>G (p.Ser48Cys)not provided [RCV001927773]uncertain significance72636456626364566Humanname
151754267CV1407392single nucleotide variantNM_013322.3(SNX10):c.259A>G (p.Asn87Asp)not provided [RCV002023702]uncertain significance72636509326365093Humanname
151772407CV1418006single nucleotide variantNM_013322.3(SNX10):c.194A>G (p.Gln65Arg)not provided [RCV001874582]uncertain significance72636461726364617Humanname
151807699CV1462768single nucleotide variantNM_013322.3(SNX10):c.262C>A (p.Arg88Ser)not provided [RCV001991525]uncertain significance72636509626365096Humanname
151870617CV1466541single nucleotide variantNM_013322.3(SNX10):c.203C>T (p.Ala68Val)not provided [RCV001906428]uncertain significance72636462626364626Humanname
151858708CV1486431single nucleotide variantNM_013322.3(SNX10):c.133A>G (p.Met45Val)not provided [RCV001883648]uncertain significance72636455626364556Humanname
151846270CV1488150single nucleotide variantNM_013322.3(SNX10):c.295G>C (p.Glu99Gln)not provided [RCV001995375]uncertain significance72636512926365129Humanname
155268293CV1705322single nucleotide variantNM_153816.6(SNX14):c.125C>G (p.Ser42Cys)Inborn genetic diseases [RCV005281164]|not provided [RCV002285927]uncertain significance68559359485593594Human1name
10044325CV188145duplicationNM_153816.6(SNX14):c.645dup (p.Glu216fs)Autosomal recessive spinocerebellar ataxia 20 [RCV000170504]pathogenic68554986885549869Human1name
155984473CV1883872single nucleotide variantNM_013322.3(SNX10):c.260A>G (p.Asn87Ser)Inborn genetic diseases [RCV003087571]|not provided [RCV003075820]uncertain significance72636509426365094Human1name
156315382CV1901182single nucleotide variantNM_153816.6(SNX14):c.1791A>G (p.Glu597=)not provided [RCV002578923]likely benign68553361885533618Humanname
156416390CV1905076single nucleotide variantNM_153816.6(SNX14):c.2580T>A (p.Thr860=)not provided [RCV002610152]likely benign68551387385513873Humanname
156376980CV1930588single nucleotide variantNM_013322.3(SNX10):c.262C>T (p.Arg88Cys)not provided [RCV002633919]uncertain significance72636509626365096Humanname
156435839CV1945196single nucleotide variantNM_153816.6(SNX14):c.2364A>G (p.Glu788=)not provided [RCV003116136]likely benign68551453485514534Humanname
156288960CV1961355single nucleotide variantNM_013322.3(SNX10):c.281G>A (p.Arg94His)not provided [RCV002577753]uncertain significance72636511526365115Humanname
156415134CV1965202single nucleotide variantNM_153816.6(SNX14):c.1038T>A (p.Leu346=)not provided [RCV002588994]likely benign68554718285547182Humanname
156317692CV1971306single nucleotide variantNM_153816.6(SNX14):c.1059T>C (p.Phe353=)not provided [RCV002630155]likely benign68554716185547161Humanname
156415228CV1990886single nucleotide variantNM_013322.3(SNX10):c.251A>G (p.Asn84Ser)not provided [RCV002609570]uncertain significance72636508526365085Humanname
156356118CV2001490single nucleotide variantNM_153816.6(SNX14):c.1374C>T (p.Phe458=)not provided [RCV002675935]likely benign68554319785543197Humanname
156087461CV2007325single nucleotide variantNM_013322.3(SNX10):c.172G>A (p.Val58Met)not provided [RCV002694820]uncertain significance72636459526364595Humanname
156285987CV2039233single nucleotide variantNM_013322.3(SNX10):c.263G>T (p.Arg88Leu)not provided [RCV002770564]uncertain significance72636509726365097Humanname
156249913CV2060334single nucleotide variantNM_153816.6(SNX14):c.2434T>C (p.Leu812=)not provided [RCV002791656]likely benign68551419385514193Humanname
155950316CV2076334single nucleotide variantNM_153816.6(SNX14):c.1665A>T (p.Thr555=)not provided [RCV002862313]likely benign68553374485533744Humanname
156034637CV2097662single nucleotide variantNM_153816.6(SNX14):c.2688G>A (p.Lys896=)not provided [RCV002885553]likely benign68550802585508025Humanname
156224479CV2121738single nucleotide variantNM_013322.3(SNX10):c.211G>A (p.Val71Ile)not provided [RCV002958274]uncertain significance72636463426364634Humanname
156319980CV2137997single nucleotide variantNM_153816.6(SNX14):c.268G>A (p.Gly90Arg)not provided [RCV002963133]uncertain significance68557236885572368Humanname
155947993CV2151015single nucleotide variantNM_153816.6(SNX14):c.1671T>C (p.Asn557=)not provided [RCV003014685]likely benign68553373885533738Humanname
156304396CV2157071single nucleotide variantNM_153816.6(SNX14):c.2433C>T (p.Leu811=)not provided [RCV003028248]likely benign68551419485514194Humanname
156336390CV2168439single nucleotide variantNM_013322.3(SNX10):c.160T>C (p.Tyr54His)not provided [RCV003030047]uncertain significance72636458326364583Humanname
156122470CV2241102single nucleotide variantNM_015132.5(SNX13):c.163T>A (p.Ser55Thr)not specified [RCV004104138]uncertain significance71789339717893397Humanname
155977842CV2266452single nucleotide variantNM_014758.3(SNX19):c.265C>T (p.Pro89Ser)not specified [RCV004131034]uncertain significance11130915675130915675Humanname
156011735CV2291176single nucleotide variantNM_013346.4(SNX12):c.205C>T (p.Arg69Trp)not specified [RCV004153479]uncertain significanceX7106291071062910Humanname
156103430CV2313745single nucleotide variantNM_015132.5(SNX13):c.218G>A (p.Gly73Glu)not specified [RCV004157657]uncertain significance71789334217893342Humanname
156193564CV2351785single nucleotide variantNM_013322.3(SNX10):c.283C>T (p.Arg95Cys)Inborn genetic diseases [RCV002957117]uncertain significance72636511726365117Human1name
155996035CV2393136single nucleotide variantNM_014758.3(SNX19):c.274C>T (p.Pro92Ser)not specified [RCV004226615]uncertain significance11130915666130915666Humanname
401771634CV2686275single nucleotide variantNM_014758.3(SNX19):c.257C>T (p.Ala86Val)not specified [RCV004297359]uncertain significance11130915683130915683Humanname
401730925CV2686789single nucleotide variantNM_152836.3(SNX16):c.286C>A (p.Gln96Lys)not specified [RCV004301971]uncertain significance88183970181839701Humanname
401761566CV2699346single nucleotide variantNM_014748.4(SNX17):c.181C>G (p.Pro61Ala)not specified [RCV004305934]uncertain significance22737266527372665Humanname
401740449CV2706214single nucleotide variantNM_013322.3(SNX10):c.247T>C (p.Phe83Leu)Inborn genetic diseases [RCV003292377]uncertain significance72636508126365081Human1name
401738981CV2708270single nucleotide variantNM_013346.4(SNX12):c.217A>G (p.Ser73Gly)not specified [RCV004311612]uncertain significanceX7106289871062898Humanname
401781969CV2722366single nucleotide variantNM_015132.5(SNX13):c.158C>G (p.Thr53Arg)not specified [RCV004322775]uncertain significance71789340217893402Humanname
401783403CV2723535single nucleotide variantNM_013322.3(SNX10):c.280C>G (p.Arg94Gly)Inborn genetic diseases [RCV003309542]uncertain significance72636511426365114Human1name
401751587CV2727058single nucleotide variantNM_013306.5(SNX15):c.286C>T (p.Arg96Trp)not specified [RCV004325433]uncertain significance116503487665034876Humanname
401769564CV2731417single nucleotide variantNM_015132.5(SNX13):c.237A>C (p.Glu79Asp)not specified [RCV004330779]uncertain significance71789162717891627Humanname
401884203CV2762781single nucleotide variantNM_014758.3(SNX19):c.287G>A (p.Arg96Lys)not specified [RCV004340333]uncertain significance11130915653130915653Humanname
401861036CV2772681single nucleotide variantNM_013306.5(SNX15):c.157A>G (p.Ser53Gly)not specified [RCV004355418]uncertain significance116503245265032452Humanname
401870004CV2792248single nucleotide variantNM_014758.3(SNX19):c.151C>G (p.Leu51Val)not specified [RCV004361444]uncertain significance11130915789130915789Humanname
401905770CV2810027single nucleotide variantNM_014758.3(SNX19):c.2973C>G (p.Ser991=)not provided [RCV003396093]likely benign11130878428130878428Humanname
401904883CV2820521single nucleotide variantNM_153816.6(SNX14):c.2004G>A (p.Leu668=)not provided [RCV003431933]likely benign68552622985526229Humanname
401925611CV2828327single nucleotide variantNM_015132.5(SNX13):c.1152A>G (p.Leu384=)not provided [RCV003436663]likely benign71784560817845608Humanname
401925612CV2828328single nucleotide variantNM_015132.5(SNX13):c.1110C>T (p.Cys370=)not provided [RCV003436664]likely benign71784565017845650Humanname
401905181CV2831403deletionNM_013322.3(SNX10):c.302del (p.Phe101fs)Autosomal recessive osteopetrosis 8 [RCV003444394]likely pathogenic72636513426365134Human1name
402506509CV2854084single nucleotide variantNM_153816.6(SNX14):c.1638T>C (p.Asp546=)not provided [RCV003541996]likely benign68553377185533771Humanname
402511004CV2925124single nucleotide variantNM_153816.6(SNX14):c.2325G>A (p.Lys775=)not provided [RCV003567575]likely benign68551457385514573Humanname
402508388CV3036238single nucleotide variantNM_013322.3(SNX10):c.263G>A (p.Arg88His)not provided [RCV003715434]uncertain significance72636509726365097Humanname
405121200CV3116578single nucleotide variantNM_153816.6(SNX14):c.2481T>G (p.Thr827=)not provided [RCV003814880]likely benign68551414685514146Humanname
405166953CV3125717single nucleotide variantNM_013322.3(SNX10):c.121A>G (p.Met41Val)not provided [RCV003818800]uncertain significance72636454426364544Humanname
405732500CV3322559single nucleotide variantNM_013306.5(SNX15):c.160G>A (p.Asp54Asn)not specified [RCV004464521]uncertain significance116503245565032455Humanname
405732509CV3322560single nucleotide variantNM_013306.5(SNX15):c.166C>A (p.Arg56Ser)not specified [RCV004464522]uncertain significance116503246165032461Humanname
405732516CV3322561single nucleotide variantNM_013306.5(SNX15):c.200G>A (p.Arg67His)not specified [RCV004464523]uncertain significance116503249565032495Humanname
405732523CV3322562single nucleotide variantNM_013306.5(SNX15):c.275T>G (p.Val92Gly)not specified [RCV004464524]uncertain significance116503486565034865Humanname
405732569CV3322568single nucleotide variantNM_152836.3(SNX16):c.185A>C (p.Asp62Ala)not specified [RCV004464530]uncertain significance88183980281839802Humanname
405732575CV3322569single nucleotide variantNM_152836.3(SNX16):c.194C>T (p.Ser65Leu)not specified [RCV004464531]uncertain significance88183979381839793Humanname
405732582CV3322570single nucleotide variantNM_152836.3(SNX16):c.199G>A (p.Val67Ile)not specified [RCV004464532]uncertain significance88183978881839788Humanname
405732675CV3322581single nucleotide variantNM_014748.4(SNX17):c.164T>C (p.Val55Ala)not specified [RCV004464543]uncertain significance22737264827372648Humanname
405732799CV3322596single nucleotide variantNM_014758.3(SNX19):c.115C>G (p.Leu39Val)not specified [RCV004464558]uncertain significance11130915825130915825Humanname
405732813CV3322598single nucleotide variantNM_014758.3(SNX19):c.142G>T (p.Val48Leu)not specified [RCV004464560]uncertain significance11130915798130915798Humanname
405732293CV3326371single nucleotide variantNM_013322.3(SNX10):c.254T>C (p.Met85Thr)Inborn genetic diseases [RCV004464495]uncertain significance72636508826365088Human1name
405732301CV3326372single nucleotide variantNM_013323.3(SNX11):c.176G>A (p.Arg59His)not specified [RCV004464496]uncertain significance174811334748113347Humanname
407503926CV3484787single nucleotide variantNM_153816.6(SNX14):c.148C>G (p.His50Asp)Inborn genetic diseases [RCV004670382]uncertain significance68557437185574371Human1name
596922174CV3535722single nucleotide variantNM_013322.3(SNX10):c.295G>T (p.Glu99Ter)Autosomal recessive osteopetrosis 8 [RCV004785264]likely pathogenic72636512926365129Human1name
597745211CV3607230single nucleotide variantNM_013323.3(SNX11):c.134A>G (p.Asn45Ser)not specified [RCV004865626]uncertain significance174811330548113305Humanname
597741018CV3607231single nucleotide variantNM_013323.3(SNX11):c.182G>A (p.Arg61His)not specified [RCV004864775]uncertain significance174811335348113353Humanname
597745216CV3607232single nucleotide variantNM_013346.4(SNX12):c.206G>A (p.Arg69Gln)not specified [RCV004865627]uncertain significanceX7106290971062909Humanname
597745249CV3607240single nucleotide variantNM_015132.5(SNX13):c.293A>G (p.Asn98Ser)not specified [RCV004865633]uncertain significance71789157117891571Humanname
597745287CV3607249single nucleotide variantNM_013306.5(SNX15):c.115G>C (p.Asp39His)not specified [RCV004865640]uncertain significance116503218365032183Humanname
597741032CV3607250single nucleotide variantNM_013306.5(SNX15):c.223G>A (p.Glu75Lys)not specified [RCV004864778]uncertain significance116503251865032518Humanname
597741088CV3607281single nucleotide variantNM_014758.3(SNX19):c.256G>A (p.Ala86Thr)not specified [RCV004864790]uncertain significance11130915684130915684Humanname
597892098CV3813407single nucleotide variantNM_153816.6(SNX14):c.2250T>C (p.Thr750=)not provided [RCV005151407]likely benign68551777485517774Humanname
597963504CV3837671single nucleotide variantNM_153816.6(SNX14):c.1992A>G (p.Leu664=)not provided [RCV005193653]likely benign68552826585528265Humanname
597954222CV3844371single nucleotide variantNM_153816.6(SNX14):c.2094A>G (p.Pro698=)not provided [RCV005191044]likely benign68552613985526139Humanname
598171848CV3911658single nucleotide variantNM_015132.5(SNX13):c.259A>G (p.Thr87Ala)not specified [RCV005284893]uncertain significance71789160517891605Humanname
598171835CV3911661single nucleotide variantNM_153816.6(SNX14):c.193T>C (p.Phe65Leu)Inborn genetic diseases [RCV005284896]uncertain significance68557432685574326Human1name
598171830CV3911662single nucleotide variantNM_153816.6(SNX14):c.194T>A (p.Phe65Tyr)Inborn genetic diseases [RCV005284897]uncertain significance68557432585574325Human1name
598171821CV3911664single nucleotide variantNM_153816.6(SNX14):c.254A>G (p.Lys85Arg)Inborn genetic diseases [RCV005284899]uncertain significance68557426585574265Human1name
598171813CV3911666single nucleotide variantNM_153816.6(SNX14):c.216T>G (p.Asp72Glu)Inborn genetic diseases [RCV005284901]uncertain significance68557430385574303Human1name
598171802CV3911668single nucleotide variantNM_013306.5(SNX15):c.242G>A (p.Arg81Gln)not specified [RCV005284903]uncertain significance116503253765032537Humanname
598171634CV3911670single nucleotide variantNM_013306.5(SNX15):c.215G>A (p.Arg72His)not specified [RCV005284905]uncertain significance116503251065032510Humanname
598171638CV3911671single nucleotide variantNM_013306.5(SNX15):c.167G>A (p.Arg56His)not specified [RCV005284906]uncertain significance116503246265032462Humanname
598171653CV3911674single nucleotide variantNM_013306.5(SNX15):c.238C>T (p.Pro80Ser)not specified [RCV005284909]uncertain significance116503253365032533Humanname
598171686CV3911680single nucleotide variantNM_014748.4(SNX17):c.273G>T (p.Leu91Phe)not specified [RCV005284915]uncertain significance22737326327373263Humanname
598171940CV3911702single nucleotide variantNM_014758.3(SNX19):c.268C>T (p.Pro90Ser)not specified [RCV005284937]uncertain significance11130915672130915672Humanname
13474028CV444118single nucleotide variantNM_013322.3(SNX10):c.162T>A (p.Tyr54Ter)not provided [RCV000519534]pathogenic72636458526364585Humanname
8570715CV48564single nucleotide variantNM_013322.3(SNX10):c.152G>A (p.Arg51Gln)Autosomal recessive osteopetrosis 8 [RCV000033149]|not provided [RCV002514140]pathogenic72636457526364575Human1name
14695742CV622997single nucleotide variantNM_013322.3(SNX10):c.284G>A (p.Arg95His)Autosomal recessive osteopetrosis 8 [RCV003141769]|Infantile osteopetrosis [RCV000786018]|not provided [RCV003558590]likely pathogenic|uncertain significance72636511826365118Human2name
15171188CV710632single nucleotide variantNM_153816.6(SNX14):c.2412T>G (p.Val804=)not provided [RCV000972149]likely benign68551421585514215Humanname
15178905CV722163single nucleotide variantNM_153816.6(SNX14):c.2532G>A (p.Leu844=)not provided [RCV000885169]benign|likely benign68551409585514095Humanname
15180106CV722166single nucleotide variantNM_153816.6(SNX14):c.264G>T (p.Gln88His)not provided [RCV000885446]benign68557237285572372Humanname
15172351CV722440single nucleotide variantNM_015132.5(SNX13):c.1254A>G (p.Glu418=)not provided [RCV000883824]benign71783991217839912Humanname
15115328CV735805single nucleotide variantNM_153816.6(SNX14):c.1009T>C (p.Leu337=)not provided [RCV000895005]benign68554721185547211Humanname
15112719CV783911single nucleotide variantNM_014758.3(SNX19):c.2523C>T (p.Thr841=)not provided [RCV000977881]likely benign11130903305130903305Humanname
21068732CV788807single nucleotide variantNM_153816.6(SNX14):c.1809A>G (p.Ala603=)Autosomal recessive spinocerebellar ataxia 20 [RCV000984899]|not provided [RCV002290495]uncertain significance68553360085533600Human1name
21072217CV792770single nucleotide variantNM_013322.3(SNX10):c.151C>T (p.Arg51Ter)Autosomal recessive osteopetrosis 8 [RCV000991381]|not provided [RCV002550624]pathogenic|likely pathogenic72636457426364574Human1name
126737322CV1016795single nucleotide variantNM_153816.6(SNX14):c.913C>A (p.Pro305Thr)Autosomal recessive spinocerebellar ataxia 20 [RCV001328723]uncertain significance68554739785547397Human1name
8643623CV102888single nucleotide variantNM_014758.3(SNX19):c.842C>T (p.Ala281Val)not provided [RCV000083249]not provided11130915098130915098Humanname
126916136CV1044910single nucleotide variantNM_013322.3(SNX10):c.498A>C (p.Glu166Asp)not provided [RCV001371322]uncertain significance72637200726372007Humanname
150483713CV1210179single nucleotide variantNM_153816.6(SNX14):c.932C>T (p.Pro311Leu)not provided [RCV001590878]uncertain significance68554737885547378Humanname
150514283CV1213406single nucleotide variantNM_153816.6(SNX14):c.907A>C (p.Ser303Arg)not provided [RCV001598997]benign68554751185547511Humanname
150548367CV1316271single nucleotide variantNM_153816.6(SNX14):c.572C>A (p.Thr191Asn)Autosomal recessive spinocerebellar ataxia 20 [RCV001788838]|Inborn genetic diseases [RCV004671439]|not provided [RCV001786072]uncertain significance68555803885558038Human2name
151872345CV1339556single nucleotide variantNM_013322.3(SNX10):c.593C>T (p.Pro198Leu)Inborn genetic diseases [RCV002545461]|not provided [RCV002035839]likely benign|uncertain significance72637255926372559Human1name
151853221CV1349225single nucleotide variantNM_013322.3(SNX10):c.432A>T (p.Glu144Asp)Inborn genetic diseases [RCV005278960]|not provided [RCV001923073]uncertain significance72637194126371941Human1name
151710748CV1365669single nucleotide variantNM_013322.3(SNX10):c.340G>A (p.Asp114Asn)not provided [RCV001907946]uncertain significance72637184926371849Humanname
151817068CV1427345single nucleotide variantNM_013322.3(SNX10):c.487G>T (p.Gly163Ter)not provided [RCV001878850]uncertain significance72637199626371996Humanname
151841945CV1436011single nucleotide variantNM_013322.3(SNX10):c.529T>C (p.Ser177Pro)not provided [RCV001956864]uncertain significance72637249526372495Humanname
151725241CV1462072single nucleotide variantNM_013322.3(SNX10):c.443A>C (p.Lys148Thr)not provided [RCV001966504]uncertain significance72637195226371952Humanname
151788612CV1479323single nucleotide variantNM_013322.3(SNX10):c.382G>C (p.Glu128Gln)not provided [RCV002046880]uncertain significance72637189126371891Humanname
151790667CV1512999single nucleotide variantNM_013322.3(SNX10):c.535G>T (p.Gly179Trp)not provided [RCV001876484]uncertain significance72637250126372501Humanname
151870204CV1516886single nucleotide variantNM_013322.3(SNX10):c.464G>A (p.Arg155His)not provided [RCV001981198]uncertain significance72637197326371973Humanname
153347018CV1691913single nucleotide variantNM_153816.6(SNX14):c.800C>A (p.Thr267Asn)Inborn genetic diseases [RCV005281158]|not provided [RCV002273396]uncertain significance68554836885548368Human1name
155723368CV1774344single nucleotide variantNM_013322.3(SNX10):c.413C>T (p.Thr138Ile)not provided [RCV002296787]uncertain significance72637192226371922Humanname
155674175CV1775718single nucleotide variantNM_153816.6(SNX14):c.794C>T (p.Ser265Phe)not provided [RCV002296111]uncertain significance68554837485548374Humanname
155686452CV1777638single nucleotide variantNM_013322.3(SNX10):c.319C>A (p.Gln107Lys)not provided [RCV002299020]uncertain significance72637182826371828Humanname
10044327CV188148single nucleotide variantNM_153816.6(SNX14):c.428T>A (p.Leu143Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV000170507]pathogenic68556756785567567Human1name
156317773CV1897588single nucleotide variantNM_153816.6(SNX14):c.677A>G (p.Tyr226Cys)Inborn genetic diseases [RCV002602275]|not provided [RCV002579051]uncertain significance68554983785549837Human1name
155935105CV1916345single nucleotide variantNM_013322.3(SNX10):c.395C>T (p.Ala132Val)not provided [RCV002615246]uncertain significance72637190426371904Humanname
156435749CV1948756single nucleotide variantNM_153816.6(SNX14):c.565A>G (p.Ile189Val)not provided [RCV003113003]uncertain significance68555804585558045Humanname
156419670CV1974019single nucleotide variantNM_013322.3(SNX10):c.334C>A (p.Leu112Ile)not provided [RCV002612909]uncertain significance72637184326371843Humanname
156322746CV1978983single nucleotide variantNM_013322.3(SNX10):c.506T>C (p.Ile169Thr)not provided [RCV002630458]uncertain significance72637201526372015Humanname
156163278CV2019558single nucleotide variantNM_013322.3(SNX10):c.479A>G (p.Asp160Gly)not provided [RCV002710251]uncertain significance72637198826371988Humanname
155978114CV2028513single nucleotide variantNM_153816.6(SNX14):c.520G>A (p.Ala174Thr)not provided [RCV002755197]uncertain significance68556536185565361Humanname
156029659CV2036810single nucleotide variantNM_153816.6(SNX14):c.715G>C (p.Asp239His)not provided [RCV002781058]uncertain significance68554979985549799Humanname
156120165CV2115914single nucleotide variantNM_153816.6(SNX14):c.335A>C (p.His112Pro)not provided [RCV002927782]uncertain significance68557230185572301Humanname
156265502CV2134957single nucleotide variantNM_153816.6(SNX14):c.328A>G (p.Lys110Glu)Autosomal recessive spinocerebellar ataxia 20 [RCV005045133]|Inborn genetic diseases [RCV002988626]|not provided [RCV002988627]uncertain significance68557230885572308Human2name
156044548CV2143630single nucleotide variantNM_153816.6(SNX14):c.694G>A (p.Val232Ile)Inborn genetic diseases [RCV004068390]|not provided [RCV002999659]uncertain significance68554982085549820Human1name
156246900CV2145537single nucleotide variantNM_153816.6(SNX14):c.838C>T (p.Leu280Phe)not provided [RCV003008302]uncertain significance68554833085548330Humanname
155952654CV2161388single nucleotide variantNM_153816.6(SNX14):c.571A>G (p.Thr191Ala)not provided [RCV003032521]uncertain significance68555803985558039Humanname
156249894CV2169020single nucleotide variantNM_153816.6(SNX14):c.695T>C (p.Val232Ala)not provided [RCV003026302]uncertain significance68554981985549819Humanname
156019019CV2173999single nucleotide variantNM_013322.3(SNX10):c.458A>G (p.Asn153Ser)not provided [RCV003035632]uncertain significance72637196726371967Humanname
156118854CV2174757single nucleotide variantNM_013322.3(SNX10):c.301T>G (p.Phe101Val)not provided [RCV003055388]uncertain significance72636513526365135Humanname
156139952CV2191719single nucleotide variantNM_153816.6(SNX14):c.395A>G (p.Lys132Arg)not provided [RCV003056144]uncertain significance68557215985572159Humanname
155919479CV2202627single nucleotide variantNM_015132.5(SNX13):c.523G>A (p.Ala175Thr)not specified [RCV004082883]uncertain significance71787570817875708Humanname
156322694CV2205211single nucleotide variantNM_013323.3(SNX11):c.685C>T (p.Pro229Ser)not specified [RCV004079843]uncertain significance174812138048121380Humanname
156042015CV2215729single nucleotide variantNM_152836.3(SNX16):c.631C>G (p.Leu211Val)not specified [RCV004095339]uncertain significance88181537581815375Humanname
156180234CV2225879single nucleotide variantNM_013306.5(SNX15):c.646G>T (p.Asp216Tyr)not specified [RCV004103271]uncertain significance116503564565035645Humanname
156385945CV2228075single nucleotide variantNM_153816.6(SNX14):c.845C>T (p.Ser282Phe)Inborn genetic diseases [RCV002723554]uncertain significance68554832385548323Human1name
156282912CV2230851single nucleotide variantNM_014748.4(SNX17):c.949C>T (p.Arg317Cys)not specified [RCV004092332]uncertain significance22737568027375680Humanname
156238640CV2235822single nucleotide variantNM_152836.3(SNX16):c.527A>G (p.Tyr176Cys)not specified [RCV004111942]uncertain significance88182387681823876Humanname
156200484CV2237709single nucleotide variantNM_015132.5(SNX13):c.653A>G (p.Lys218Arg)not specified [RCV004100500]uncertain significance71787549117875491Humanname
156236454CV2239016single nucleotide variantNM_013346.4(SNX12):c.419G>A (p.Arg140His)not specified [RCV004109898]uncertain significanceX7106108671061086Humanname
156155427CV2242505single nucleotide variantNM_013323.3(SNX11):c.758G>A (p.Gly253Glu)not specified [RCV004111491]uncertain significance174812145348121453Humanname
156242503CV2246233single nucleotide variantNM_152836.3(SNX16):c.941C>G (p.Ala314Gly)not specified [RCV004107692]uncertain significance88180159181801591Humanname
155962878CV2254476single nucleotide variantNM_013322.3(SNX10):c.602C>T (p.Ser201Phe)Inborn genetic diseases [RCV002817004]uncertain significance72637256826372568Human1name
156302816CV2258738single nucleotide variantNM_153816.6(SNX14):c.921A>C (p.Lys307Asn)Inborn genetic diseases [RCV002808258]uncertain significance68554738985547389Human1name
155966911CV2261104single nucleotide variantNM_153816.6(SNX14):c.656A>G (p.Gln219Arg)Inborn genetic diseases [RCV002817356]uncertain significance68554985885549858Human1name
156367931CV2266902single nucleotide variantNM_014748.4(SNX17):c.529C>T (p.Arg177Trp)not specified [RCV004131565]uncertain significance22737435127374351Humanname
155982777CV2273005single nucleotide variantNM_013306.5(SNX15):c.983G>T (p.Arg328Leu)not specified [RCV004137663]uncertain significance116503974665039746Humanname
155907350CV2276355single nucleotide variantNM_153816.6(SNX14):c.913C>T (p.Pro305Ser)Inborn genetic diseases [RCV002837433]uncertain significance68554739785547397Human1name
156248747CV2277024single nucleotide variantNM_013306.5(SNX15):c.430C>T (p.Pro144Ser)not specified [RCV004140344]uncertain significance116503511665035116Humanname
156264644CV2282676single nucleotide variantNM_013323.3(SNX11):c.379C>A (p.Gln127Lys)not specified [RCV004135224]uncertain significance174811902648119026Humanname
156123928CV2285718single nucleotide variantNM_014748.4(SNX17):c.644T>C (p.Met215Thr)not specified [RCV004141868]uncertain significance22737472127374721Humanname
156169403CV2296610single nucleotide variantNM_014748.4(SNX17):c.817C>T (p.Arg273Cys)not specified [RCV004154671]uncertain significance22737554827375548Humanname
156208386CV2298121single nucleotide variantNM_013306.5(SNX15):c.314G>A (p.Arg105His)not specified [RCV004159787]uncertain significance116503490465034904Humanname
156202006CV2300596single nucleotide variantNM_014748.4(SNX17):c.530G>A (p.Arg177Gln)not specified [RCV004155556]uncertain significance22737435227374352Humanname
155902170CV2301396single nucleotide variantNM_152836.3(SNX16):c.967A>G (p.Ser323Gly)not specified [RCV004162334]uncertain significance88180156581801565Humanname
156098071CV2306431single nucleotide variantNM_013323.3(SNX11):c.301C>G (p.Gln101Glu)not specified [RCV004157058]uncertain significance174811877448118774Humanname
156167389CV2315305single nucleotide variantNM_152836.3(SNX16):c.940G>C (p.Ala314Pro)not specified [RCV004167290]uncertain significance88180159281801592Humanname
156073710CV2321600single nucleotide variantNM_152836.3(SNX16):c.598G>A (p.Asp200Asn)not specified [RCV004179624]uncertain significance88182380581823805Humanname
156084082CV2343178single nucleotide variantNM_014758.3(SNX19):c.772G>T (p.Asp258Tyr)not specified [RCV004194809]uncertain significance11130915168130915168Humanname
156066580CV2346838single nucleotide variantNM_013306.5(SNX15):c.680G>C (p.Ser227Thr)not specified [RCV004199838]uncertain significance116503858765038587Humanname
156246324CV2347305single nucleotide variantNM_013306.5(SNX15):c.530C>T (p.Pro177Leu)not specified [RCV004206784]uncertain significance116503552965035529Humanname
156216213CV2347960single nucleotide variantNM_013323.3(SNX11):c.748G>C (p.Ala250Pro)not specified [RCV004197649]uncertain significance174812144348121443Humanname
156283886CV2348976single nucleotide variantNM_013306.5(SNX15):c.706A>G (p.Thr236Ala)not specified [RCV004203407]likely benign116503861365038613Humanname
155909422CV2359727single nucleotide variantNM_013306.5(SNX15):c.689A>C (p.His230Pro)not specified [RCV004210544]uncertain significance116503859665038596Humanname
155936502CV2379837single nucleotide variantNM_013323.3(SNX11):c.769G>A (p.Val257Met)not specified [RCV004219948]uncertain significance174812146448121464Humanname
156113024CV2387977single nucleotide variantNM_015132.5(SNX13):c.882T>G (p.Ile294Met)not specified [RCV004236512]uncertain significance71785092017850920Humanname
156054726CV2388627single nucleotide variantNM_014748.4(SNX17):c.563C>G (p.Ser188Cys)not specified [RCV004239508]uncertain significance22737438527374385Humanname
243056007CV2413290deletionNM_153816.6(SNX14):c.44_45del (p.Arg15fs)Autosomal recessive spinocerebellar ataxia 20 [RCV003132604]likely pathogenic68559367485593675Human1name
329357886CV2427871single nucleotide variantNM_014758.3(SNX19):c.712G>C (p.Val238Leu)not specified [RCV004252643]uncertain significance11130915228130915228Humanname
329360513CV2443590single nucleotide variantNM_152836.3(SNX16):c.653G>A (p.Gly218Asp)not specified [RCV004262414]uncertain significance88181535381815353Humanname
329351957CV2455527single nucleotide variantNM_015132.5(SNX13):c.766C>G (p.Arg256Gly)not specified [RCV004276789]uncertain significance71786847817868478Humanname
329401982CV2458029single nucleotide variantNM_013323.3(SNX11):c.327G>C (p.Lys109Asn)not specified [RCV004271596]uncertain significance174811897448118974Humanname
329394407CV2460747single nucleotide variantNM_013322.3(SNX10):c.566C>T (p.Ser189Leu)Inborn genetic diseases [RCV003193660]uncertain significance72637253226372532Human1name
329374256CV2463470single nucleotide variantNM_014748.4(SNX17):c.358G>A (p.Glu120Lys)not specified [RCV004277299]uncertain significance22737389727373897Humanname
329361756CV2468275single nucleotide variantNM_152836.3(SNX16):c.948T>A (p.Asn316Lys)not specified [RCV004275837]uncertain significance88180158481801584Humanname
329394354CV2469828single nucleotide variantNM_013306.5(SNX15):c.866C>T (p.Ala289Val)not specified [RCV004285318]uncertain significance116503877365038773Humanname
329954047CV2670709single nucleotide variantNM_153816.6(SNX14):c.810A>G (p.Ile270Met)not provided [RCV003235977]uncertain significance68554835885548358Humanname
401732298CV2678060single nucleotide variantNM_014748.4(SNX17):c.875C>T (p.Ala292Val)not specified [RCV004296581]uncertain significance22737560627375606Humanname
401756512CV2687186single nucleotide variantNM_152836.3(SNX16):c.338T>C (p.Leu113Pro)not specified [RCV004298135]uncertain significance88183964981839649Humanname
401782612CV2697120single nucleotide variantNM_152836.3(SNX16):c.805G>C (p.Glu269Gln)not specified [RCV004302116]uncertain significance88180310581803105Humanname
401782736CV2697188single nucleotide variantNM_152836.3(SNX16):c.701A>G (p.Glu234Gly)not specified [RCV004303962]uncertain significance88180320981803209Humanname
401779035CV2702057single nucleotide variantNM_014758.3(SNX19):c.548T>G (p.Val183Gly)not specified [RCV004320635]uncertain significance11130915392130915392Humanname
401761304CV2706294single nucleotide variantNM_014748.4(SNX17):c.794C>T (p.Thr265Met)not specified [RCV004314955]uncertain significance22737552527375525Humanname
401749392CV2706714single nucleotide variantNM_013323.3(SNX11):c.644T>C (p.Val215Ala)not specified [RCV004319279]likely benign174812133948121339Humanname
401763229CV2707598single nucleotide variantNM_015132.5(SNX13):c.839T>C (p.Ile280Thr)not specified [RCV004306539]uncertain significance71785096317850963Humanname
401745450CV2709069single nucleotide variantNM_153816.6(SNX14):c.973C>A (p.Pro325Thr)Inborn genetic diseases [RCV003262050]uncertain significance68554733785547337Human1name
401733778CV2713213single nucleotide variantNM_013323.3(SNX11):c.319C>T (p.Leu107Phe)not specified [RCV004316747]uncertain significance174811879248118792Humanname
401749115CV2713755single nucleotide variantNM_152836.3(SNX16):c.901C>G (p.Leu301Val)not specified [RCV004321102]uncertain significance88180241781802417Humanname
401761812CV2713906single nucleotide variantNM_153816.6(SNX14):c.488T>C (p.Val163Ala)Inborn genetic diseases [RCV003257687]uncertain significance68556539385565393Human1name
401770036CV2719005single nucleotide variantNM_015132.5(SNX13):c.895A>G (p.Asn299Asp)not specified [RCV004322592]uncertain significance71785090717850907Humanname
401761829CV2726923single nucleotide variantNM_152836.3(SNX16):c.304A>G (p.Asn102Asp)not specified [RCV004323207]uncertain significance88183968381839683Humanname
401750451CV2737933deletionNM_153816.6(SNX14):c.1878del (p.Lys626fs)Autosomal recessive spinocerebellar ataxia 20 [RCV003315105]pathogenic68553020885530208Human1name
401861749CV2756477single nucleotide variantNM_013306.5(SNX15):c.868G>A (p.Ala290Thr)not specified [RCV004343008]uncertain significance116503877565038775Humanname
401883567CV2757991single nucleotide variantNM_015132.5(SNX13):c.547G>A (p.Asp183Asn)not specified [RCV004339164]uncertain significance71787568417875684Humanname
401864342CV2760791single nucleotide variantNM_013306.5(SNX15):c.464G>A (p.Arg155Gln)not specified [RCV004336433]uncertain significance116503515065035150Humanname
401868793CV2767344single nucleotide variantNM_015132.5(SNX13):c.775C>A (p.Leu259Ile)not specified [RCV004349506]uncertain significance71786846917868469Humanname
401893941CV2773583single nucleotide variantNM_015132.5(SNX13):c.778C>T (p.Leu260Phe)not specified [RCV004355989]uncertain significance71786846617868466Humanname
401873413CV2776576single nucleotide variantNM_013323.3(SNX11):c.802T>G (p.Leu268Val)not specified [RCV004355671]uncertain significance174812149748121497Humanname
401896065CV2777389single nucleotide variantNM_015132.5(SNX13):c.740G>A (p.Arg247Gln)not specified [RCV004354392]uncertain significance71787354117873541Humanname
401883179CV2785567single nucleotide variantNM_152836.3(SNX16):c.968G>A (p.Ser323Asn)not specified [RCV004363082]uncertain significance88180156481801564Humanname
401864833CV2791380single nucleotide variantNM_014758.3(SNX19):c.721C>G (p.Leu241Val)not specified [RCV004358782]uncertain significance11130915219130915219Humanname
405118155CV2949733single nucleotide variantNM_013322.3(SNX10):c.338C>G (p.Ser113Ter)not provided [RCV003667148]pathogenic72637184726371847Humanname
405250144CV2997273single nucleotide variantNM_013322.3(SNX10):c.411G>C (p.Gln137His)not provided [RCV003721541]uncertain significance72637192026371920Humanname
405236707CV3036035single nucleotide variantNM_013322.3(SNX10):c.502G>T (p.Asp168Tyr)not provided [RCV003712482]uncertain significance72637201126372011Humanname
405226115CV3142473single nucleotide variantNM_153816.6(SNX14):c.862G>A (p.Asp288Asn)not provided [RCV003848012]uncertain significance68554830685548306Humanname
405732336CV3322538single nucleotide variantNM_013346.4(SNX12):c.452T>C (p.Ile151Thr)not specified [RCV004464500]uncertain significanceX7106105371061053Humanname
405732432CV3322550single nucleotide variantNM_015132.5(SNX13):c.508C>G (p.Arg170Gly)not specified [RCV004464512]uncertain significance71787572317875723Humanname
405732442CV3322551single nucleotide variantNM_015132.5(SNX13):c.548A>G (p.Asp183Gly)not specified [RCV004464513]uncertain significance71787568317875683Humanname
405732491CV3322558single nucleotide variantNM_153816.6(SNX14):c.799A>G (p.Thr267Ala)Inborn genetic diseases [RCV004464520]uncertain significance68554836985548369Human1name
405732533CV3322563single nucleotide variantNM_013306.5(SNX15):c.332C>G (p.Pro111Arg)not specified [RCV004464525]uncertain significance116503492265034922Humanname
405732540CV3322564single nucleotide variantNM_013306.5(SNX15):c.430C>A (p.Pro144Thr)not specified [RCV004464526]uncertain significance116503511665035116Humanname
405732547CV3322565single nucleotide variantNM_013306.5(SNX15):c.452C>G (p.Pro151Arg)not specified [RCV004464527]uncertain significance116503513865035138Humanname
405732555CV3322566single nucleotide variantNM_013306.5(SNX15):c.800C>T (p.Ala267Val)not specified [RCV004464528]uncertain significance116503870765038707Humanname
405732592CV3322571single nucleotide variantNM_152836.3(SNX16):c.544G>A (p.Glu182Lys)not specified [RCV004464533]uncertain significance88182385981823859Humanname
405732601CV3322572single nucleotide variantNM_152836.3(SNX16):c.734T>C (p.Leu245Pro)not specified [RCV004464534]uncertain significance88180317681803176Humanname
405732608CV3322573single nucleotide variantNM_152836.3(SNX16):c.952C>A (p.Pro318Thr)not specified [RCV004464535]uncertain significance88180158081801580Humanname
405732683CV3322582single nucleotide variantNM_014748.4(SNX17):c.500A>G (p.Glu167Gly)not specified [RCV004464544]uncertain significance22737415227374152Humanname
405732706CV3322584single nucleotide variantNM_014748.4(SNX17):c.950G>A (p.Arg317His)not specified [RCV004464546]uncertain significance22737568127375681Humanname
405732925CV3322612single nucleotide variantNM_014758.3(SNX19):c.311G>A (p.Arg104His)not specified [RCV004464574]uncertain significance11130915629130915629Humanname
405732933CV3322613single nucleotide variantNM_014758.3(SNX19):c.347C>G (p.Ser116Cys)not specified [RCV004464575]uncertain significance11130915593130915593Humanname
405732942CV3322614single nucleotide variantNM_014758.3(SNX19):c.447G>A (p.Met149Ile)not specified [RCV004464576]uncertain significance11130915493130915493Humanname
405732956CV3322616single nucleotide variantNM_014758.3(SNX19):c.567G>T (p.Trp189Cys)not specified [RCV004464578]uncertain significance11130915373130915373Humanname
405732964CV3322617single nucleotide variantNM_014758.3(SNX19):c.745C>T (p.Pro249Ser)not specified [RCV004464579]uncertain significance11130915195130915195Humanname
405732971CV3322618single nucleotide variantNM_014758.3(SNX19):c.905A>G (p.Glu302Gly)not specified [RCV004464580]uncertain significance11130915035130915035Humanname
405732318CV3326374single nucleotide variantNM_013323.3(SNX11):c.355G>C (p.Asp119His)not specified [RCV004464498]uncertain significance174811900248119002Humanname
405732326CV3326375single nucleotide variantNM_013323.3(SNX11):c.584C>T (p.Pro195Leu)not specified [RCV004464499]uncertain significance174812127948121279Humanname
407503817CV3484779single nucleotide variantNM_015132.5(SNX13):c.541G>A (p.Glu181Lys)not specified [RCV004670375]uncertain significance71787569017875690Humanname
407525304CV3484793single nucleotide variantNM_153816.6(SNX14):c.511C>T (p.Arg171Cys)Inborn genetic diseases [RCV004679126]uncertain significance68556537085565370Human1name
407525305CV3484794single nucleotide variantNM_013306.5(SNX15):c.983G>A (p.Arg328Gln)not specified [RCV004679127]uncertain significance116503974665039746Humanname
407503941CV3484796single nucleotide variantNM_013306.5(SNX15):c.985G>A (p.Ala329Thr)not specified [RCV004670387]uncertain significance116503974865039748Humanname
407503944CV3484797single nucleotide variantNM_013306.5(SNX15):c.472C>G (p.Gln158Glu)not specified [RCV004670388]uncertain significance116503515865035158Humanname
408388953CV3529156single nucleotide variantNM_013322.3(SNX10):c.406G>T (p.Gly136Trp)not provided [RCV004773978]uncertain significance72637191526371915Humanname
596925136CV3536930single nucleotide variantNM_153816.6(SNX14):c.739C>G (p.Leu247Val)Autosomal recessive spinocerebellar ataxia 20 [RCV004785924]uncertain significance68554977585549775Human1name
597730345CV3607226single nucleotide variantNM_013322.3(SNX10):c.320A>G (p.Gln107Arg)Inborn genetic diseases [RCV004963896]uncertain significance72637182926371829Human1name
597741013CV3607228single nucleotide variantNM_013323.3(SNX11):c.616G>C (p.Val206Leu)not specified [RCV004864774]uncertain significance174812131148121311Humanname
597745206CV3607229single nucleotide variantNM_013323.3(SNX11):c.458G>A (p.Arg153Gln)not specified [RCV004865625]uncertain significance174811910548119105Humanname
597745233CV3607236single nucleotide variantNM_015132.5(SNX13):c.848C>T (p.Ser283Phe)not specified [RCV004865630]uncertain significance71785095417850954Humanname
597741027CV3607239single nucleotide variantNM_015132.5(SNX13):c.889A>T (p.Ser297Cys)not specified [RCV004864777]uncertain significance71785091317850913Humanname
597730351CV3607243single nucleotide variantNM_153816.6(SNX14):c.938C>T (p.Ser313Phe)Inborn genetic diseases [RCV004963897]uncertain significance68554737285547372Human1name
597730360CV3607244single nucleotide variantNM_153816.6(SNX14):c.595A>G (p.Met199Val)Inborn genetic diseases [RCV004963898]uncertain significance68555801585558015Human1name
597745266CV3607245single nucleotide variantNM_013306.5(SNX15):c.945G>C (p.Gln315His)not specified [RCV004865636]uncertain significance116503970865039708Humanname
597745272CV3607246single nucleotide variantNM_013306.5(SNX15):c.901G>A (p.Val301Ile)not specified [RCV004865637]likely benign116503880865038808Humanname
597745277CV3607247single nucleotide variantNM_013306.5(SNX15):c.826A>C (p.Ile276Leu)not specified [RCV004865638]uncertain significance116503873365038733Humanname
597745282CV3607248single nucleotide variantNM_013306.5(SNX15):c.484G>A (p.Ala162Thr)not specified [RCV004865639]uncertain significance116503517065035170Humanname
597745292CV3607251single nucleotide variantNM_152836.3(SNX16):c.569C>T (p.Ala190Val)not specified [RCV004865641]uncertain significance88182383481823834Humanname
597745299CV3607253single nucleotide variantNM_152836.3(SNX16):c.508C>T (p.Arg170Cys)not specified [RCV004865642]uncertain significance88182389581823895Humanname
597745303CV3607254single nucleotide variantNM_152836.3(SNX16):c.687C>G (p.Phe229Leu)not specified [RCV004865643]uncertain significance88180322381803223Humanname
597745308CV3607255single nucleotide variantNM_152836.3(SNX16):c.994A>G (p.Ile332Val)not specified [RCV004865644]uncertain significance88180153881801538Humanname
597745313CV3607256single nucleotide variantNM_014748.4(SNX17):c.346G>C (p.Glu116Gln)not specified [RCV004865645]uncertain significance22737388527373885Humanname
597741042CV3607258single nucleotide variantNM_014748.4(SNX17):c.626C>T (p.Ala209Val)not specified [RCV004864780]uncertain significance22737470327374703Humanname
597745345CV3607270single nucleotide variantNM_014758.3(SNX19):c.403A>C (p.Met135Leu)not specified [RCV004865651]uncertain significance11130915537130915537Humanname
597745350CV3607271single nucleotide variantNM_014758.3(SNX19):c.979C>G (p.Pro327Ala)not specified [RCV004865652]uncertain significance11130914961130914961Humanname
597745355CV3607272single nucleotide variantNM_014758.3(SNX19):c.448G>A (p.Asp150Asn)not specified [RCV004865653]uncertain significance11130915492130915492Humanname
597745387CV3607280single nucleotide variantNM_014758.3(SNX19):c.757A>G (p.Arg253Gly)not specified [RCV004865659]uncertain significance11130915183130915183Humanname
597745392CV3607283single nucleotide variantNM_014758.3(SNX19):c.512A>T (p.Gln171Leu)not specified [RCV004865660]uncertain significance11130915428130915428Humanname
597703252CV3719047single nucleotide variantNM_013322.3(SNX10):c.398G>A (p.Cys133Tyr)Autosomal recessive osteopetrosis 8 [RCV005033704]uncertain significance72637190726371907Human1name
597833169CV3734908single nucleotide variantNM_153816.6(SNX14):c.902A>G (p.Asp301Gly)not provided [RCV005054641]uncertain significance68554751685547516Humanname
597960620CV3794704single nucleotide variantNM_153816.6(SNX14):c.553G>T (p.Asp185Tyr)not provided [RCV005138609]uncertain significance68555805785558057Humanname
597898363CV3854554single nucleotide variantNM_013322.3(SNX10):c.303C>G (p.Phe101Leu)not provided [RCV005201661]uncertain significance72636513726365137Humanname
12858960CV389131duplicationNM_153816.6(SNX14):c.1672dup (p.Thr558fs)Abnormal brain morphology [RCV000454285]likely pathogenic68553373685533737Human1name
598171877CV3911652single nucleotide variantNM_013323.3(SNX11):c.722C>G (p.Thr241Ser)not specified [RCV005284887]uncertain significance174812141748121417Humanname
598171873CV3911653single nucleotide variantNM_013323.3(SNX11):c.311A>G (p.Gln104Arg)not specified [RCV005284888]uncertain significance174811878448118784Humanname
598171868CV3911654single nucleotide variantNM_013323.3(SNX11):c.679T>C (p.Ser227Pro)not specified [RCV005284889]uncertain significance174812137448121374Humanname
598171863CV3911655single nucleotide variantNM_013346.4(SNX12):c.431T>C (p.Met144Thr)not specified [RCV005284890]uncertain significanceX7106107471061074Humanname
598171843CV3911659single nucleotide variantNM_015132.5(SNX13):c.617A>G (p.Lys206Arg)not specified [RCV005284894]uncertain significance71787552717875527Humanname
598171826CV3911663single nucleotide variantNM_153816.6(SNX14):c.557T>C (p.Ile186Thr)Inborn genetic diseases [RCV005284898]uncertain significance68555805385558053Human1name
598171818CV3911665single nucleotide variantNM_153816.6(SNX14):c.989C>T (p.Pro330Leu)Inborn genetic diseases [RCV005284900]uncertain significance68554732185547321Human1name
598171797CV3911669single nucleotide variantNM_013306.5(SNX15):c.895G>A (p.Val299Met)not specified [RCV005284904]uncertain significance116503880265038802Humanname
598171643CV3911672single nucleotide variantNM_013306.5(SNX15):c.997C>G (p.Leu333Val)not specified [RCV005284907]uncertain significance116503976065039760Humanname
598171648CV3911673single nucleotide variantNM_013306.5(SNX15):c.455A>G (p.Asp152Gly)not specified [RCV005284908]uncertain significance116503514165035141Humanname
598171659CV3911675single nucleotide variantNM_152836.3(SNX16):c.586G>A (p.Val196Ile)not specified [RCV005284910]uncertain significance88182381781823817Humanname
598171670CV3911677single nucleotide variantNM_014748.4(SNX17):c.818G>A (p.Arg273His)not specified [RCV005284912]uncertain significance22737554927375549Humanname
598171675CV3911678single nucleotide variantNM_014748.4(SNX17):c.505G>A (p.Glu169Lys)not specified [RCV005284913]uncertain significance22737415727374157Humanname
598171680CV3911679single nucleotide variantNM_014748.4(SNX17):c.734G>A (p.Arg245Gln)not specified [RCV005284914]uncertain significance22737511327375113Humanname
616937484CV4013476deletionNM_153816.6(SNX14):c.1883del (p.Thr628fs)Autosomal recessive spinocerebellar ataxia 20 [RCV005411039]likely pathogenic68553020385530203Human1name
13486916CV444021single nucleotide variantNM_153816.6(SNX14):c.919A>G (p.Lys307Glu)not provided [RCV000523064]uncertain significance68554739185547391Humanname
13592699CV513288single nucleotide variantNM_153816.6(SNX14):c.331C>T (p.Arg111Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV000625883]pathogenic68557230585572305Human1name
14695713CV622885single nucleotide variantNM_153816.6(SNX14):c.303T>A (p.Cys101Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV000785947]likely pathogenic68557233385572333Human1name
15110385CV724315single nucleotide variantNM_014758.3(SNX19):c.949A>G (p.Ser317Gly)not provided [RCV000894051]benign11130914991130914991Humanname
21068769CV788808deletionNM_153816.6(SNX14):c.1725del (p.Phe575fs)Autosomal recessive spinocerebellar ataxia 20 [RCV000984947]likely pathogenic68553368485533684Human1name
8634285CV89505single nucleotide variantNM_013306.4(SNX15):c.682C>T (p.Pro228Ser)Malignant melanoma [RCV000069602]not provided116503858965038589Humanname
126760540CV1006991single nucleotide variantNM_153816.6(SNX14):c.1358T>C (p.Val453Ala)not provided [RCV001318370]|not specified [RCV003387994]uncertain significance68554321385543213Humanname
126737314CV1016793single nucleotide variantNM_153816.6(SNX14):c.2674G>A (p.Gly892Ser)Autosomal recessive spinocerebellar ataxia 20 [RCV001328722]uncertain significance68550803985508039Human1name
126737311CV1016794single nucleotide variantNM_153816.6(SNX14):c.2410G>A (p.Val804Ile)Autosomal recessive spinocerebellar ataxia 20 [RCV001328721]|not provided [RCV001597267]likely benign|uncertain significance68551421785514217Human1name
126738373CV1020300single nucleotide variantNM_153816.6(SNX14):c.2395C>T (p.Arg799Trp)Autosomal recessive spinocerebellar ataxia 20 [RCV001335507]|not provided [RCV001751655]uncertain significance68551423285514232Human1name
150555829CV1305316single nucleotide variantNM_153816.6(SNX14):c.1075G>A (p.Ala359Thr)not provided [RCV001773249]uncertain significance68554714585547145Humanname
151234658CV1320397single nucleotide variantNM_153816.6(SNX14):c.1832G>C (p.Trp611Ser)not provided [RCV001800021]uncertain significance68553025485530254Humanname
151353467CV1326604single nucleotide variantNM_153816.6(SNX14):c.2524C>T (p.His842Tyr)Inborn genetic diseases [RCV002542481]|not provided [RCV001816433]uncertain significance68551410385514103Human1name
153347938CV1694987single nucleotide variantNM_153816.6(SNX14):c.1690G>A (p.Ala564Thr)not provided [RCV002278918]uncertain significance68553371985533719Humanname
155267595CV1704995single nucleotide variantNM_153816.6(SNX14):c.1600G>C (p.Asp534His)Inborn genetic diseases [RCV005281163]|not provided [RCV002285600]uncertain significance68553680085536800Human1name
155674822CV1773147single nucleotide variantNM_153816.6(SNX14):c.2280T>G (p.Asp760Glu)not provided [RCV002296859]uncertain significance68551461885514618Humanname
10044323CV188143single nucleotide variantNM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV000170502]pathogenic68551385785513857Human1name
10044824CV188147single nucleotide variantNM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV000170506]|Spinocerebellar atrophy [RCV004798794]|not provided [RCV002225490]pathogenic68554373785543737Human3name
156340704CV1898760single nucleotide variantNM_153816.6(SNX14):c.2176A>G (p.Met726Val)not provided [RCV003090344]uncertain significance68551784885517848Humanname
156359080CV1910570single nucleotide variantNM_153816.6(SNX14):c.1781T>C (p.Ile594Thr)not provided [RCV002632546]uncertain significance68553362885533628Humanname
156206742CV1913238single nucleotide variantNM_153816.6(SNX14):c.1898C>T (p.Ala633Val)Inborn genetic diseases [RCV005266561]|not provided [RCV002595912]uncertain significance68552835985528359Human1name
156405557CV1919394single nucleotide variantNM_153816.6(SNX14):c.2636T>C (p.Met879Thr)not provided [RCV002585674]uncertain significance68551381785513817Humanname
156085577CV1956574single nucleotide variantNM_153816.6(SNX14):c.2558A>C (p.Asp853Ala)Inborn genetic diseases [RCV002570049]|not provided [RCV002573958]uncertain significance68551389585513895Human1name
156156280CV1957785single nucleotide variantNM_153816.6(SNX14):c.1303A>G (p.Thr435Ala)not provided [RCV002573066]uncertain significance68554326885543268Humanname
156415001CV1983126single nucleotide variantNM_153816.6(SNX14):c.2095G>A (p.Asp699Asn)not provided [RCV002609465]uncertain significance68552613885526138Humanname
156242270CV1996413single nucleotide variantNM_153816.6(SNX14):c.1366C>T (p.Pro456Ser)not provided [RCV002667967]uncertain significance68554320585543205Humanname
156007522CV2064961single nucleotide variantNM_153816.6(SNX14):c.2267A>G (p.Lys756Arg)not provided [RCV002843697]uncertain significance68551775785517757Humanname
155936110CV2114171single nucleotide variantNM_153816.6(SNX14):c.1939C>T (p.Pro647Ser)not provided [RCV002904147]uncertain significance68552831885528318Humanname
155938016CV2125857single nucleotide variantNM_153816.6(SNX14):c.2261A>G (p.Asn754Ser)not provided [RCV002971087]uncertain significance68551776385517763Humanname
156126159CV2185649single nucleotide variantNM_153816.6(SNX14):c.1414G>A (p.Ala472Thr)not provided [RCV003055660]uncertain significance68554201985542019Humanname
156268387CV2198899single nucleotide variantNM_015132.5(SNX13):c.1453A>G (p.Ile485Val)not specified [RCV004077932]uncertain significance71783477217834772Humanname
156228101CV2199380single nucleotide variantNM_015132.5(SNX13):c.2572A>T (p.Ile858Phe)not specified [RCV004070953]uncertain significance71779688117796881Humanname
155962351CV2200961single nucleotide variantNM_153816.6(SNX14):c.2314A>G (p.Thr772Ala)Inborn genetic diseases [RCV002686737]uncertain significance68551458485514584Human1name
156322734CV2205221single nucleotide variantNM_014758.3(SNX19):c.2794C>T (p.Arg932Trp)not specified [RCV004079853]uncertain significance11130879676130879676Humanname
156151392CV2209273single nucleotide variantNM_153816.6(SNX14):c.2637G>C (p.Met879Ile)Inborn genetic diseases [RCV002697667]uncertain significance68551381685513816Human1name
156375979CV2210399single nucleotide variantNM_014758.3(SNX19):c.1316C>T (p.Ser439Phe)not specified [RCV004089548]uncertain significance11130914624130914624Humanname
155978459CV2215033single nucleotide variantNM_014758.3(SNX19):c.2660G>A (p.Gly887Asp)not specified [RCV004084803]uncertain significance11130880720130880720Humanname
156121005CV2226985single nucleotide variantNM_014758.3(SNX19):c.2566G>A (p.Val856Ile)not specified [RCV004097379]likely benign11130903262130903262Humanname
156070544CV2232448single nucleotide variantNM_153816.6(SNX14):c.1675C>T (p.Pro559Ser)Inborn genetic diseases [RCV002737338]uncertain significance68553373485533734Human1name
156126341CV2234329single nucleotide variantNM_014758.3(SNX19):c.2255G>A (p.Gly752Asp)not specified [RCV004100563]uncertain significance11130906632130906632Humanname
155969634CV2244604single nucleotide variantNM_015132.5(SNX13):c.2240T>C (p.Ile747Thr)not specified [RCV004102326]uncertain significance71780164617801646Humanname
156104306CV2260565single nucleotide variantNM_014758.3(SNX19):c.1346T>C (p.Ile449Thr)not specified [RCV004123340]uncertain significance11130914594130914594Humanname
156167923CV2270523single nucleotide variantNM_014758.3(SNX19):c.2437G>A (p.Asp813Asn)not provided [RCV004695476]|not specified [RCV004137480]uncertain significance11130905959130905959Humanname
156137069CV2280560single nucleotide variantNM_015132.5(SNX13):c.2293G>A (p.Asp765Asn)not specified [RCV004143046]uncertain significance71780159317801593Humanname
155916446CV2282070single nucleotide variantNM_014758.3(SNX19):c.1000G>C (p.Glu334Gln)not specified [RCV004138817]uncertain significance11130914940130914940Humanname
156242578CV2283202single nucleotide variantNM_015132.5(SNX13):c.2776C>T (p.Arg926Cys)not specified [RCV004145880]uncertain significance71779414317794143Humanname
156272031CV2286520single nucleotide variantNM_014758.3(SNX19):c.2381G>A (p.Arg794His)not specified [RCV004140020]likely benign11130906015130906015Humanname
156141805CV2288585single nucleotide variantNM_015132.5(SNX13):c.1412C>G (p.Thr471Ser)not specified [RCV004152105]uncertain significance71783481317834813Humanname
155997112CV2288586single nucleotide variantNM_015132.5(SNX13):c.2817G>A (p.Met939Ile)not specified [RCV004152106]uncertain significance71779410217794102Humanname
156002611CV2293346single nucleotide variantNM_014758.3(SNX19):c.1775G>A (p.Arg592His)not specified [RCV004150826]uncertain significance11130911671130911671Humanname
155955027CV2302325single nucleotide variantNM_014758.3(SNX19):c.1271C>A (p.Ala424Asp)not specified [RCV004161085]uncertain significance11130914669130914669Humanname
156047913CV2315727single nucleotide variantNM_014758.3(SNX19):c.1751G>A (p.Arg584Gln)not specified [RCV004169740]uncertain significance11130911695130911695Humanname
156274854CV2316409single nucleotide variantNM_014748.4(SNX17):c.1025G>A (p.Gly342Asp)not specified [RCV004169903]uncertain significance22737589227375892Humanname
156281612CV2321904single nucleotide variantNM_153816.6(SNX14):c.1007A>C (p.Glu336Ala)Inborn genetic diseases [RCV002921750]uncertain significance68554721385547213Human1name
156259768CV2322256single nucleotide variantNM_153816.6(SNX14):c.1611T>G (p.Ile537Met)Inborn genetic diseases [RCV002959677]uncertain significance68553379885533798Human1name
156352447CV2323973single nucleotide variantNM_015132.5(SNX13):c.1798C>T (p.Arg600Cys)not specified [RCV004176493]uncertain significance71782155617821556Humanname
156173412CV2326851single nucleotide variantNM_014758.3(SNX19):c.2847G>T (p.Arg949Ser)not specified [RCV004176680]uncertain significance11130878554130878554Humanname
156166098CV2330099single nucleotide variantNM_014758.3(SNX19):c.1601G>A (p.Arg534His)not specified [RCV004185589]uncertain significance11130914339130914339Humanname
155978911CV2335229single nucleotide variantNM_013306.5(SNX15):c.1021C>G (p.Pro341Ala)not specified [RCV004186799]uncertain significance116503978465039784Humanname
155927124CV2345341single nucleotide variantNM_015132.5(SNX13):c.2119G>T (p.Val707Phe)not specified [RCV004198121]uncertain significance71780352617803526Humanname
156127032CV2351091single nucleotide variantNM_014758.3(SNX19):c.2462C>T (p.Ala821Val)not specified [RCV004213953]uncertain significance11130903366130903366Humanname
156078974CV2351150single nucleotide variantNM_014758.3(SNX19):c.1111T>C (p.Ser371Pro)not specified [RCV004214005]uncertain significance11130914829130914829Humanname
156146933CV2357972single nucleotide variantNM_015132.5(SNX13):c.1460G>A (p.Arg487Lys)not specified [RCV004209752]uncertain significance71783476517834765Humanname
155925258CV2358294single nucleotide variantNM_153816.6(SNX14):c.1084G>A (p.Val362Met)Inborn genetic diseases [RCV002992522]uncertain significance68554713685547136Human1name
156053291CV2361008single nucleotide variantNM_014758.3(SNX19):c.2875A>G (p.Ile959Val)not specified [RCV004216204]uncertain significance11130878526130878526Humanname
155937844CV2364926single nucleotide variantNM_015132.5(SNX13):c.2840A>C (p.Gln947Pro)not specified [RCV004222222]uncertain significance71779407917794079Humanname
156050418CV2367506single nucleotide variantNM_014758.3(SNX19):c.1127C>T (p.Pro376Leu)not specified [RCV004211442]uncertain significance11130914813130914813Humanname
155932967CV2372197single nucleotide variantNM_014758.3(SNX19):c.1282C>T (p.Pro428Ser)not specified [RCV004216977]uncertain significance11130914658130914658Humanname
155933864CV2372351single nucleotide variantNM_014758.3(SNX19):c.1250A>C (p.Glu417Ala)not specified [RCV004217118]uncertain significance11130914690130914690Humanname
156165237CV2376332single nucleotide variantNM_014758.3(SNX19):c.1387G>C (p.Ala463Pro)not specified [RCV004222592]uncertain significance11130914553130914553Humanname
156061513CV2380251single nucleotide variantNM_014758.3(SNX19):c.1693G>A (p.Gly565Ser)not provided [RCV004703308]|not specified [RCV004224609]likely benign11130911753130911753Humanname
156103281CV2400198single nucleotide variantNM_014758.3(SNX19):c.1122G>T (p.Glu374Asp)not specified [RCV004242992]uncertain significance11130914818130914818Humanname
329356381CV2430722single nucleotide variantNM_014758.3(SNX19):c.1000G>A (p.Glu334Lys)not specified [RCV004253905]uncertain significance11130914940130914940Humanname
329349838CV2438925single nucleotide variantNM_153816.6(SNX14):c.2725C>G (p.Gln909Glu)Inborn genetic diseases [RCV003192649]uncertain significance68550798885507988Human1name
329402414CV2454204single nucleotide variantNM_014758.3(SNX19):c.1933G>A (p.Glu645Lys)not specified [RCV004265686]uncertain significance11130910119130910119Humanname
329397477CV2466234single nucleotide variantNM_014758.3(SNX19):c.1778T>C (p.Leu593Pro)not specified [RCV004279867]uncertain significance11130911668130911668Humanname
329847858CV2534193single nucleotide variantNM_153816.6(SNX14):c.2654A>G (p.Asp885Gly)not provided [RCV003228400]uncertain significance68550805985508059Humanname
13211223CV263760single nucleotide variantNM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)Autosomal recessive spinocerebellar ataxia 20 [RCV000498500]pathogenic68554711285547112Human1name
401771369CV2675572single nucleotide variantNM_014758.3(SNX19):c.1687C>T (p.Leu563Phe)not specified [RCV004295185]uncertain significance11130911759130911759Humanname
401728213CV2676012single nucleotide variantNM_015132.5(SNX13):c.2576G>A (p.Arg859Gln)not specified [RCV004282002]uncertain significance71779687717796877Humanname
401743579CV2679257single nucleotide variantNM_153816.6(SNX14):c.1630A>G (p.Met544Val)Inborn genetic diseases [RCV003239793]uncertain significance68553377985533779Human1name
401757447CV2693007single nucleotide variantNM_015132.5(SNX13):c.1098T>G (p.Phe366Leu)not specified [RCV004306512]uncertain significance71784566217845662Humanname
401760507CV2695065single nucleotide variantNM_014758.3(SNX19):c.1915C>A (p.Gln639Lys)not specified [RCV004303223]uncertain significance11130910137130910137Humanname
401725347CV2697373single nucleotide variantNM_014758.3(SNX19):c.1546T>C (p.Phe516Leu)not specified [RCV004304123]uncertain significance11130914394130914394Humanname
401748296CV2698342single nucleotide variantNM_015132.5(SNX13):c.1757A>T (p.His586Leu)not specified [RCV004304884]uncertain significance71782159717821597Humanname
401730614CV2711416single nucleotide variantNM_015132.5(SNX13):c.1412C>T (p.Thr471Ile)not specified [RCV004313168]uncertain significance71783481317834813Humanname
401761616CV2713821single nucleotide variantNM_001102575.2(SNX18):c.34A>G (p.Arg12Gly)not specified [RCV004315269]uncertain significance55451798654517986Humanname
401752100CV2714116single nucleotide variantNM_014748.4(SNX17):c.1237G>A (p.Val413Met)not specified [RCV004317372]uncertain significance22737636727376367Humanname
401784295CV2721241single nucleotide variantNM_015132.5(SNX13):c.1382A>G (p.Asp461Gly)not specified [RCV004330181]uncertain significance71783484317834843Humanname
401856977CV2759910single nucleotide variantNM_015132.5(SNX13):c.2105A>C (p.Asn702Thr)not specified [RCV004345336]uncertain significance71780354017803540Humanname
401893745CV2762033single nucleotide variantNM_015132.5(SNX13):c.1888A>G (p.Thr630Ala)not specified [RCV004341854]uncertain significance71781624717816247Humanname
401890031CV2763599single nucleotide variantNM_014748.4(SNX17):c.1208C>T (p.Thr403Ile)not specified [RCV004343108]uncertain significance22737633827376338Humanname
401887216CV2773239single nucleotide variantNM_014758.3(SNX19):c.1388C>T (p.Ala463Val)not specified [RCV004353916]uncertain significance11130914552130914552Humanname
401856743CV2775289single nucleotide variantNM_153816.6(SNX14):c.2617A>G (p.Lys873Glu)Inborn genetic diseases [RCV003343211]uncertain significance68551383685513836Human1name
401892284CV2776046single nucleotide variantNM_015132.5(SNX13):c.2248A>G (p.Thr750Ala)not specified [RCV004353152]uncertain significance71780163817801638Humanname
401859271CV2783544single nucleotide variantNM_153816.6(SNX14):c.1184A>G (p.Lys395Arg)Inborn genetic diseases [RCV003381571]uncertain significance68554368585543685Human1name
401897431CV2787036single nucleotide variantNM_014758.3(SNX19):c.1940C>T (p.Ala647Val)not specified [RCV004366156]uncertain significance11130910112130910112Humanname
401858636CV2788227single nucleotide variantNM_153816.6(SNX14):c.1903C>T (p.Pro635Ser)Inborn genetic diseases [RCV003371573]uncertain significance68552835485528354Human1name
401859248CV2788923single nucleotide variantNM_153816.6(SNX14):c.1026G>C (p.Glu342Asp)Inborn genetic diseases [RCV003381362]uncertain significance68554719485547194Human1name
401876029CV2789270single nucleotide variantNM_015132.5(SNX13):c.2788A>G (p.Asn930Asp)not specified [RCV004365299]uncertain significance71779413117794131Humanname
405732341CV3322539single nucleotide variantNM_015132.5(SNX13):c.1090G>C (p.Ala364Pro)not specified [RCV004464501]uncertain significance71784567017845670Humanname
405732348CV3322540single nucleotide variantNM_015132.5(SNX13):c.1268G>A (p.Arg423His)not specified [RCV004464502]uncertain significance71783989817839898Humanname
405732356CV3322541single nucleotide variantNM_015132.5(SNX13):c.1418A>G (p.Asn473Ser)not specified [RCV004464503]uncertain significance71783480717834807Humanname
405732365CV3322542single nucleotide variantNM_015132.5(SNX13):c.1531C>T (p.Arg511Cys)not specified [RCV004464504]uncertain significance71783411817834118Humanname
405732376CV3322543single nucleotide variantNM_015132.5(SNX13):c.1719T>A (p.Asp573Glu)not specified [RCV004464505]uncertain significance71782163517821635Humanname
405732385CV3322544single nucleotide variantNM_015132.5(SNX13):c.1762C>T (p.Arg588Cys)not specified [RCV004464506]uncertain significance71782159217821592Humanname
405732393CV3322545single nucleotide variantNM_015132.5(SNX13):c.1982C>T (p.Ala661Val)not specified [RCV004464507]uncertain significance71781491617814916Humanname
405732403CV3322546single nucleotide variantNM_015132.5(SNX13):c.2138G>A (p.Ser713Asn)not specified [RCV004464508]uncertain significance71780350717803507Humanname
405732409CV3322547single nucleotide variantNM_015132.5(SNX13):c.2645T>C (p.Ile882Thr)not specified [RCV004464509]uncertain significance71779427417794274Humanname
405732416CV3322548single nucleotide variantNM_015132.5(SNX13):c.2731T>C (p.Phe911Leu)not specified [RCV004464510]uncertain significance71779418817794188Humanname
405732427CV3322549single nucleotide variantNM_015132.5(SNX13):c.2740G>A (p.Gly914Ser)not specified [RCV004464511]uncertain significance71779417917794179Humanname
405732449CV3322552single nucleotide variantNM_153816.6(SNX14):c.1805G>C (p.Arg602Thr)Inborn genetic diseases [RCV004464514]uncertain significance68553360485533604Human1name
405732456CV3322553single nucleotide variantNM_153816.6(SNX14):c.2168C>G (p.Pro723Arg)Inborn genetic diseases [RCV004464515]uncertain significance68551785685517856Human1name
405732464CV3322554single nucleotide variantNM_153816.6(SNX14):c.2230C>G (p.Leu744Val)Inborn genetic diseases [RCV004464516]uncertain significance68551779485517794Human1name
405732472CV3322555single nucleotide variantNM_153816.6(SNX14):c.2528G>A (p.Arg843His)Inborn genetic diseases [RCV004464517]uncertain significance68551409985514099Human1name
405732616CV3322574single nucleotide variantNM_014748.4(SNX17):c.1168G>A (p.Gly390Ser)not specified [RCV004464536]uncertain significance22737616927376169Humanname
405732622CV3322575single nucleotide variantNM_014748.4(SNX17):c.1196G>A (p.Arg399Gln)not specified [RCV004464537]uncertain significance22737632627376326Humanname
405732631CV3322576single nucleotide variantNM_014748.4(SNX17):c.1255C>T (p.Leu419Phe)not specified [RCV004464538]uncertain significance22737638527376385Humanname
405732643CV3322577single nucleotide variantNM_014748.4(SNX17):c.1303A>C (p.Lys435Gln)not specified [RCV004464539]uncertain significance22737660927376609Humanname
405732650CV3322578single nucleotide variantNM_014748.4(SNX17):c.1396G>C (p.Gly466Arg)not specified [RCV004464540]uncertain significance22737670227376702Humanname
405732791CV3322595single nucleotide variantNM_014758.3(SNX19):c.1153A>G (p.Ile385Val)not specified [RCV004464557]uncertain significance11130914787130914787Humanname
405732808CV3322597single nucleotide variantNM_014758.3(SNX19):c.1391C>A (p.Ser464Tyr)not specified [RCV004464559]uncertain significance11130914549130914549Humanname
405732822CV3322599single nucleotide variantNM_014758.3(SNX19):c.1484A>G (p.Asp495Gly)not specified [RCV004464561]uncertain significance11130914456130914456Humanname
405732837CV3322601single nucleotide variantNM_014758.3(SNX19):c.1678G>A (p.Glu560Lys)not specified [RCV004464563]uncertain significance11130911768130911768Humanname
405732848CV3322602single nucleotide variantNM_014758.3(SNX19):c.2159C>G (p.Ala720Gly)not specified [RCV004464564]uncertain significance11130907959130907959Humanname
405732853CV3322603single nucleotide variantNM_014758.3(SNX19):c.2395G>T (p.Val799Leu)not specified [RCV004464565]likely benign11130906001130906001Humanname
405732862CV3322604single nucleotide variantNM_014758.3(SNX19):c.2518T>C (p.Cys840Arg)not specified [RCV004464566]uncertain significance11130903310130903310Humanname
405732869CV3322605single nucleotide variantNM_014758.3(SNX19):c.2524G>A (p.Glu842Lys)not specified [RCV004464567]uncertain significance11130903304130903304Humanname
405732879CV3322606single nucleotide variantNM_014758.3(SNX19):c.2624A>G (p.Gln875Arg)not specified [RCV004464568]uncertain significance11130880756130880756Humanname
405732888CV3322607single nucleotide variantNM_014758.3(SNX19):c.2656C>T (p.Pro886Ser)not specified [RCV004464569]uncertain significance11130880724130880724Humanname
405732895CV3322608single nucleotide variantNM_014758.3(SNX19):c.2684G>A (p.Arg895Gln)not specified [RCV004464570]uncertain significance11130880696130880696Humanname
405732904CV3322609single nucleotide variantNM_014758.3(SNX19):c.2693G>T (p.Arg898Met)not specified [RCV004464571]uncertain significance11130880687130880687Humanname
405732908CV3322610single nucleotide variantNM_014758.3(SNX19):c.2836C>G (p.Leu946Val)not specified [RCV004464572]uncertain significance11130879634130879634Humanname
407503820CV3484780single nucleotide variantNM_015132.5(SNX13):c.1580C>T (p.Ser527Phe)not specified [RCV004670376]uncertain significance71783406917834069Humanname
407525301CV3484781single nucleotide variantNM_015132.5(SNX13):c.1629A>G (p.Ile543Met)not specified [RCV004679123]uncertain significance71783001617830016Humanname
407503825CV3484782single nucleotide variantNM_015132.5(SNX13):c.1108T>G (p.Cys370Gly)not specified [RCV004670377]uncertain significance71784565217845652Humanname
407503914CV3484783single nucleotide variantNM_153816.6(SNX14):c.1802G>T (p.Arg601Ile)Inborn genetic diseases [RCV004670378]uncertain significance68553360785533607Human1name
407503916CV3484784single nucleotide variantNM_153816.6(SNX14):c.1805G>A (p.Arg602Lys)Inborn genetic diseases [RCV004670379]uncertain significance68553360485533604Human1name
407503920CV3484785single nucleotide variantNM_153816.6(SNX14):c.2527C>T (p.Arg843Cys)Inborn genetic diseases [RCV004670380]uncertain significance68551410085514100Human1name
407525302CV3484788single nucleotide variantNM_153816.6(SNX14):c.2506G>C (p.Glu836Gln)Inborn genetic diseases [RCV004679124]uncertain significance68551412185514121Human1name
407503929CV3484789single nucleotide variantNM_153816.6(SNX14):c.2678A>C (p.Glu893Ala)Inborn genetic diseases [RCV004670383]uncertain significance68550803585508035Human1name
407525303CV3484790single nucleotide variantNM_153816.6(SNX14):c.1259A>G (p.Gln420Arg)Inborn genetic diseases [RCV004679125]uncertain significance68554361085543610Human1name
407503931CV3484791single nucleotide variantNM_153816.6(SNX14):c.1933A>G (p.Ile645Val)Inborn genetic diseases [RCV004670384]uncertain significance68552832485528324Human1name
407503934CV3484792single nucleotide variantNM_153816.6(SNX14):c.2189A>G (p.Asn730Ser)Inborn genetic diseases [RCV004670385]uncertain significance68551783585517835Human1name
407525306CV3484798single nucleotide variantNM_014748.4(SNX17):c.1001C>T (p.Thr334Met)not specified [RCV004679128]uncertain significance22737586827375868Humanname
407525307CV3484799single nucleotide variantNM_014748.4(SNX17):c.1202G>C (p.Gly401Ala)not specified [RCV004679129]uncertain significance22737633227376332Humanname
407525308CV3484800single nucleotide variantNM_014748.4(SNX17):c.1073G>A (p.Arg358Gln)not specified [RCV004679130]uncertain significance22737594027375940Humanname
407525312CV3484811single nucleotide variantNM_014758.3(SNX19):c.1288A>G (p.Thr430Ala)not specified [RCV004679134]uncertain significance11130914652130914652Humanname
407525313CV3484812single nucleotide variantNM_014758.3(SNX19):c.2677T>C (p.Phe893Leu)not specified [RCV004679135]uncertain significance11130880703130880703Humanname
407494425CV3495473single nucleotide variantNM_153816.6(SNX14):c.2506G>T (p.Glu836Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV004696582]likely pathogenic68551412185514121Human1name
596932261CV3538880single nucleotide variantNM_153816.6(SNX14):c.2402T>G (p.Val801Gly)not provided [RCV004793006]uncertain significance68551422585514225Humanname
12742557CV359787single nucleotide variantNM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV001808789]|not provided [RCV000413946]pathogenic68554711285547112Human1name
597741021CV3607233single nucleotide variantNM_015132.5(SNX13):c.2215T>C (p.Ser739Pro)not specified [RCV004864776]uncertain significance71780343017803430Humanname
597745222CV3607234single nucleotide variantNM_015132.5(SNX13):c.1657G>A (p.Val553Ile)not specified [RCV004865628]uncertain significance71782607017826070Humanname
597745227CV3607235single nucleotide variantNM_015132.5(SNX13):c.1217T>C (p.Val406Ala)not specified [RCV004865629]uncertain significance71783994917839949Humanname
597745239CV3607237single nucleotide variantNM_015132.5(SNX13):c.1479G>A (p.Met493Ile)not specified [RCV004865631]uncertain significance71783417017834170Humanname
597745244CV3607238single nucleotide variantNM_015132.5(SNX13):c.1585G>A (p.Asp529Asn)not specified [RCV004865632]uncertain significance71783406417834064Humanname
597745259CV3607242single nucleotide variantNM_015132.5(SNX13):c.1181C>G (p.Thr394Ser)not specified [RCV004865635]uncertain significance71783998517839985Humanname
597745318CV3607257single nucleotide variantNM_014748.4(SNX17):c.1352C>T (p.Ala451Val)not specified [RCV004865646]uncertain significance22737665827376658Humanname
597741074CV3607269single nucleotide variantNM_014758.3(SNX19):c.1007T>C (p.Val336Ala)not specified [RCV004864787]uncertain significance11130914933130914933Humanname
597741080CV3607273single nucleotide variantNM_014758.3(SNX19):c.1987C>T (p.Arg663Cys)not specified [RCV004864788]uncertain significance11130910065130910065Humanname
597745360CV3607274single nucleotide variantNM_014758.3(SNX19):c.1085G>A (p.Arg362Gln)not specified [RCV004865654]uncertain significance11130914855130914855Humanname
597741085CV3607275single nucleotide variantNM_014758.3(SNX19):c.2158G>T (p.Ala720Ser)not specified [RCV004864789]uncertain significance11130907960130907960Humanname
597745365CV3607276single nucleotide variantNM_014758.3(SNX19):c.1522C>T (p.Pro508Ser)not specified [RCV004865655]uncertain significance11130914418130914418Humanname
597745372CV3607277single nucleotide variantNM_014758.3(SNX19):c.1931C>T (p.Pro644Leu)not specified [RCV004865656]uncertain significance11130910121130910121Humanname
597745382CV3607279single nucleotide variantNM_014758.3(SNX19):c.1006G>T (p.Val336Leu)not specified [RCV004865658]likely benign11130914934130914934Humanname
597741093CV3607282single nucleotide variantNM_014758.3(SNX19):c.2026A>G (p.Ile676Val)not specified [RCV004864791]uncertain significance11130910026130910026Humanname
597745397CV3607284single nucleotide variantNM_014758.3(SNX19):c.2171G>C (p.Arg724Thr)not specified [RCV004865661]uncertain significance11130906716130906716Humanname
597741103CV3607286single nucleotide variantNM_014758.3(SNX19):c.2621T>G (p.Val874Gly)not specified [RCV004864793]uncertain significance11130880759130880759Humanname
597745402CV3607287single nucleotide variantNM_014758.3(SNX19):c.1360A>G (p.Lys454Glu)not specified [RCV004865662]uncertain significance11130914580130914580Humanname
597745414CV3607289single nucleotide variantNM_014758.3(SNX19):c.1747T>C (p.Tyr583His)not specified [RCV004865664]uncertain significance11130911699130911699Humanname
598171858CV3911656single nucleotide variantNM_015132.5(SNX13):c.2761C>T (p.Pro921Ser)not specified [RCV005284891]uncertain significance71779415817794158Humanname
598171853CV3911657single nucleotide variantNM_015132.5(SNX13):c.1484G>T (p.Arg495Leu)not specified [RCV005284892]uncertain significance71783416517834165Humanname
598171838CV3911660single nucleotide variantNM_015132.5(SNX13):c.1187G>T (p.Gly396Val)not specified [RCV005284895]uncertain significance71783997917839979Humanname
598171808CV3911667single nucleotide variantNM_153816.6(SNX14):c.1133G>A (p.Arg378Gln)Inborn genetic diseases [RCV005284902]uncertain significance68554373685543736Human1name
598171763CV3911695single nucleotide variantNM_014758.3(SNX19):c.1573G>A (p.Asp525Asn)not specified [RCV005284930]uncertain significance11130914367130914367Humanname
598171769CV3911696single nucleotide variantNM_014758.3(SNX19):c.1816G>A (p.Val606Met)not specified [RCV005284931]uncertain significance11130910368130910368Humanname
598171774CV3911697single nucleotide variantNM_014758.3(SNX19):c.2689G>A (p.Val897Ile)not specified [RCV005284932]uncertain significance11130880691130880691Humanname
598171778CV3911698single nucleotide variantNM_014758.3(SNX19):c.2652C>G (p.Ile884Met)not specified [RCV005284933]uncertain significance11130880728130880728Humanname
598171783CV3911699single nucleotide variantNM_014758.3(SNX19):c.1438C>T (p.Pro480Ser)not specified [RCV005284934]uncertain significance11130914502130914502Humanname
598171787CV3911700single nucleotide variantNM_014758.3(SNX19):c.1385C>T (p.Thr462Ile)not specified [RCV005284935]uncertain significance11130914555130914555Humanname
598171792CV3911701single nucleotide variantNM_014758.3(SNX19):c.2473C>G (p.Leu825Val)not specified [RCV005284936]uncertain significance11130903355130903355Humanname
598238466CV3911703single nucleotide variantNM_014758.3(SNX19):c.2185T>G (p.Ser729Ala)not specified [RCV005275837]uncertain significance11130906702130906702Humanname
598171946CV3911704single nucleotide variantNM_014758.3(SNX19):c.1517C>G (p.Ser506Cys)not specified [RCV005284938]uncertain significance11130914423130914423Humanname
598171951CV3911705single nucleotide variantNM_014758.3(SNX19):c.1244A>G (p.Asp415Gly)not specified [RCV005284939]uncertain significance11130914696130914696Humanname
598171957CV3911706single nucleotide variantNM_014758.3(SNX19):c.1303G>A (p.Gly435Ser)not specified [RCV005284940]uncertain significance11130914637130914637Humanname
598171962CV3911707single nucleotide variantNM_014758.3(SNX19):c.1184C>T (p.Ser395Phe)not specified [RCV005284941]uncertain significance11130914756130914756Humanname
598171967CV3911708single nucleotide variantNM_014758.3(SNX19):c.1741C>T (p.Arg581Cys)not specified [RCV005284942]uncertain significance11130911705130911705Humanname
598171971CV3911709single nucleotide variantNM_014758.3(SNX19):c.1621G>T (p.Ala541Ser)not specified [RCV005284943]uncertain significance11130914319130914319Humanname
598171977CV3911710single nucleotide variantNM_014758.3(SNX19):c.2162G>C (p.Ser721Thr)not specified [RCV005284944]uncertain significance11130907956130907956Humanname
616933246CV4012870single nucleotide variantNM_153816.6(SNX14):c.1678C>T (p.Arg560Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV005410334]likely pathogenic68553373185533731Human1name
13704839CV539004single nucleotide variantNM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)Autosomal recessive spinocerebellar ataxia 20 [RCV000662090]uncertain significance68551418085514180Human1name
15196791CV699113single nucleotide variantNM_001102575.2(SNX18):c.879G>A (p.Lys293=)not provided [RCV000956284]benign55451883154518831Humanname
15180641CV709938single nucleotide variantNM_001102575.2(SNX18):c.495G>C (p.Ala165=)not provided [RCV000974201]benign55451844754518447Humanname
15123152CV710634single nucleotide variantNM_153816.6(SNX14):c.1190A>G (p.Tyr397Cys)Inborn genetic diseases [RCV002548287]|not provided [RCV000963190]benign|likely benign68554367985543679Human1name
15140943CV712726single nucleotide variantNM_014758.3(SNX19):c.2683C>T (p.Arg895Trp)not provided [RCV000966226]benign11130880697130880697Humanname
15164729CV712727single nucleotide variantNM_014758.3(SNX19):c.2482C>G (p.Leu828Val)not provided [RCV000970791]likely benign11130903346130903346Humanname
15156222CV712728single nucleotide variantNM_014758.3(SNX19):c.2444G>C (p.Gly815Ala)not provided [RCV000969072]benign11130903384130903384Humanname
21069390CV795915single nucleotide variantNM_153816.6(SNX14):c.1651G>T (p.Glu551Ter)not provided [RCV000998657]likely pathogenic68553375885533758Humanname
25318623CV805518duplicationNM_153816.6(SNX14):c.1725dup (p.Glu576Ter)not provided [RCV001008732]pathogenic68553368385533684Humanname
8630290CV85445single nucleotide variantNM_014748.3(SNX17):c.1373G>A (p.Gly458Asp)Malignant melanoma [RCV000065528]not provided22737667927376679Humanname
8632191CV87397single nucleotide variantNM_020468.5(SNX14):c.1126C>T (p.Gln376Ter)Malignant melanoma [RCV000067488]not provided68554361185543611Humanname
38462080CV919064single nucleotide variantNM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)Autosomal recessive spinocerebellar ataxia 20 [RCV001198150]likely pathogenic68554327185543271Human1name
156258665CV2277763single nucleotide variantNM_001102575.2(SNX18):c.278C>G (p.Pro93Arg)not specified [RCV004147199]uncertain significance55451823054518230Humanname
156009989CV2290958single nucleotide variantNM_001102575.2(SNX18):c.278C>T (p.Pro93Leu)not specified [RCV004151514]uncertain significance55451823054518230Humanname
156057835CV2305188single nucleotide variantNM_001102575.2(SNX18):c.124G>A (p.Val42Ile)not specified [RCV004171125]uncertain significance55451807654518076Humanname
156152476CV2318915single nucleotide variantNM_001102575.2(SNX18):c.224C>T (p.Pro75Leu)not specified [RCV004175811]uncertain significance55451817654518176Humanname
155913526CV2341800single nucleotide variantNM_001102575.2(SNX18):c.239A>G (p.Asn80Ser)not specified [RCV004184757]uncertain significance55451819154518191Humanname
156291419CV2342894single nucleotide variantNM_001102575.2(SNX18):c.124G>C (p.Val42Leu)not specified [RCV004189928]uncertain significance55451807654518076Humanname
401763738CV2725278single nucleotide variantNM_001102575.2(SNX18):c.158C>T (p.Ala53Val)not specified [RCV004319944]uncertain significance55451811054518110Humanname
405732736CV3322588single nucleotide variantNM_001102575.2(SNX18):c.173T>A (p.Val58Glu)not specified [RCV004464550]uncertain significance55451812554518125Humanname
405732753CV3322590single nucleotide variantNM_001102575.2(SNX18):c.215C>T (p.Pro72Leu)not specified [RCV004464552]uncertain significance55451816754518167Humanname
156206801CV2160190microsatelliteNM_013322.3(SNX10):c.482AAG[1] (p.Glu162del)not provided [RCV003042180]uncertain significance72637199026371992Humanname
156317467CV2203988single nucleotide variantNM_001102575.2(SNX18):c.380C>G (p.Pro127Arg)not specified [RCV004070030]uncertain significance55451833254518332Humanname
155920413CV2279591single nucleotide variantNM_001102575.2(SNX18):c.332A>G (p.Gln111Arg)not specified [RCV004142092]uncertain significance55451828454518284Humanname
155965106CV2286872single nucleotide variantNM_001102575.2(SNX18):c.346C>G (p.Pro116Ala)not specified [RCV004142671]uncertain significance55451829854518298Humanname
156275188CV2287580single nucleotide variantNM_001102575.2(SNX18):c.629T>A (p.Val210Asp)not specified [RCV004141026]uncertain significance55451858154518581Humanname
156343416CV2364111single nucleotide variantNM_001102575.2(SNX18):c.365C>T (p.Pro122Leu)not specified [RCV004221489]uncertain significance55451831754518317Humanname
329398149CV2464814single nucleotide variantNM_001102575.2(SNX18):c.373G>A (p.Gly125Ser)not specified [RCV004284763]uncertain significance55451832554518325Humanname
401781054CV2681876single nucleotide variantNM_001102575.2(SNX18):c.928C>T (p.His310Tyr)not specified [RCV004296869]uncertain significance55451888054518880Humanname
405732773CV3322592single nucleotide variantNM_001102575.2(SNX18):c.338C>T (p.Ala113Val)not specified [RCV004464554]uncertain significance55451829054518290Humanname
405732780CV3322593single nucleotide variantNM_001102575.2(SNX18):c.379C>A (p.Pro127Thr)not specified [RCV004464555]uncertain significance55451833154518331Humanname
405732786CV3322594single nucleotide variantNM_001102575.2(SNX18):c.463G>A (p.Asp155Asn)not specified [RCV004464556]uncertain significance55451841554518415Humanname
407503955CV3484804single nucleotide variantNM_001102575.2(SNX18):c.571G>A (p.Gly191Ser)not specified [RCV004670391]uncertain significance55451852354518523Humanname
407525310CV3484806single nucleotide variantNM_001102575.2(SNX18):c.689A>G (p.Asn230Ser)not specified [RCV004679132]uncertain significance55451864154518641Humanname
407525311CV3484808single nucleotide variantNM_001102575.2(SNX18):c.668C>T (p.Ala223Val)not specified [RCV004679133]uncertain significance55451862054518620Humanname
597741044CV3607259single nucleotide variantNM_001102575.2(SNX18):c.574C>A (p.Arg192Ser)not specified [RCV004864781]uncertain significance55451852654518526Humanname
597745324CV3607260single nucleotide variantNM_001102575.2(SNX18):c.593G>T (p.Arg198Leu)not specified [RCV004865647]uncertain significance55451854554518545Humanname
597741064CV3607265single nucleotide variantNM_001102575.2(SNX18):c.298C>G (p.Pro100Ala)not specified [RCV004864785]uncertain significance55451825054518250Humanname
597745335CV3607266single nucleotide variantNM_001102575.2(SNX18):c.762C>A (p.Asp254Glu)not specified [RCV004865649]uncertain significance55451871454518714Humanname
597741069CV3607267single nucleotide variantNM_001102575.2(SNX18):c.920T>G (p.Val307Gly)not specified [RCV004864786]uncertain significance55451887254518872Humanname
598171691CV3911681single nucleotide variantNM_001102575.2(SNX18):c.901G>C (p.Val301Leu)not specified [RCV005284916]uncertain significance55451885354518853Humanname
598171696CV3911682single nucleotide variantNM_001102575.2(SNX18):c.569C>T (p.Ala190Val)not specified [RCV005284917]uncertain significance55451852154518521Humanname
598171701CV3911683single nucleotide variantNM_001102575.2(SNX18):c.394G>A (p.Ala132Thr)not specified [RCV005284918]uncertain significance55451834654518346Humanname
598171713CV3911685single nucleotide variantNM_001102575.2(SNX18):c.545C>G (p.Ser182Trp)not specified [RCV005284920]uncertain significance55451849754518497Humanname
598171723CV3911687single nucleotide variantNM_001102575.2(SNX18):c.333G>T (p.Gln111His)not specified [RCV005284922]uncertain significance55451828554518285Humanname
598171734CV3911689single nucleotide variantNM_001102575.2(SNX18):c.590C>G (p.Thr197Arg)not specified [RCV005284924]uncertain significance55451854254518542Humanname
598171738CV3911690single nucleotide variantNM_001102575.2(SNX18):c.364C>T (p.Pro122Ser)not specified [RCV005284925]uncertain significance55451831654518316Humanname
150528021CV1301044microsatelliteNM_153816.6(SNX14):c.2259CAA[1] (p.Asn754del)not provided [RCV001754904]uncertain significance68551776085517762Humanname
156222429CV2084203microsatelliteNM_153816.6(SNX14):c.1509CAG[1] (p.Ser504del)not provided [RCV002875921]uncertain significance68553688685536888Humanname
156387353CV2221483single nucleotide variantNM_001102575.2(SNX18):c.1138A>T (p.Thr380Ser)not specified [RCV004096761]uncertain significance55451909054519090Humanname
156363512CV2265751single nucleotide variantNM_001102575.2(SNX18):c.1231C>T (p.Leu411Phe)not specified [RCV004124460]uncertain significance55451918354519183Humanname
156170754CV2277025single nucleotide variantNM_001102575.2(SNX18):c.1124T>A (p.Phe375Tyr)not specified [RCV004140345]uncertain significance55451907654519076Humanname
156165227CV2330033single nucleotide variantNM_001102575.2(SNX18):c.1598C>T (p.Pro533Leu)not specified [RCV004185525]uncertain significance55451955054519550Humanname
156167506CV2345308single nucleotide variantNM_001102575.2(SNX18):c.1213G>C (p.Ala405Pro)not specified [RCV004196043]uncertain significance55451916554519165Humanname
155906544CV2357342single nucleotide variantNM_001102575.2(SNX18):c.1243C>T (p.Pro415Ser)not specified [RCV004200231]uncertain significance55451919554519195Humanname
155998732CV2396290single nucleotide variantNM_001102575.2(SNX18):c.1030T>G (p.Phe344Val)not specified [RCV004240235]uncertain significance55451898254518982Humanname
401778419CV2714714single nucleotide variantNM_001102575.2(SNX18):c.1657G>A (p.Val553Met)not specified [RCV004320286]uncertain significance55454321454543214Humanname
401751877CV2727438single nucleotide variantNM_001102575.2(SNX18):c.1117G>A (p.Asp373Asn)not specified [RCV004327525]uncertain significance55451906954519069Humanname
405732723CV3322586single nucleotide variantNM_001102575.2(SNX18):c.1252G>T (p.Ala418Ser)not specified [RCV004464548]uncertain significance55451920454519204Humanname
405732731CV3322587single nucleotide variantNM_001102575.2(SNX18):c.1265A>G (p.Gln422Arg)not specified [RCV004464549]uncertain significance55451921754519217Humanname
407503948CV3484801single nucleotide variantNM_001102575.2(SNX18):c.1705C>T (p.Arg569Cys)not specified [RCV004670389]uncertain significance55454326254543262Humanname
407525309CV3484802single nucleotide variantNM_001102575.2(SNX18):c.1609C>G (p.His537Asp)not specified [RCV004679131]uncertain significance55451956154519561Humanname
407503962CV3484807single nucleotide variantNM_001102575.2(SNX18):c.1832C>T (p.Thr611Ile)not specified [RCV004670393]uncertain significance55454338954543389Humanname
597741050CV3607261single nucleotide variantNM_001102575.2(SNX18):c.1447C>G (p.Gln483Glu)not specified [RCV004864782]uncertain significance55451939954519399Humanname
597741055CV3607262single nucleotide variantNM_001102575.2(SNX18):c.1082A>G (p.Asn361Ser)not specified [RCV004864783]uncertain significance55451903454519034Humanname
597741060CV3607264single nucleotide variantNM_001102575.2(SNX18):c.1552G>C (p.Val518Leu)not specified [RCV004864784]uncertain significance55451950454519504Humanname
597745340CV3607268single nucleotide variantNM_001102575.2(SNX18):c.1589C>G (p.Ala530Gly)not specified [RCV004865650]uncertain significance55451954154519541Humanname
598171708CV3911684single nucleotide variantNM_001102575.2(SNX18):c.1032C>G (p.Phe344Leu)not specified [RCV005284919]uncertain significance55451898454518984Humanname
598171718CV3911686single nucleotide variantNM_001102575.2(SNX18):c.1696A>G (p.Ile566Val)not specified [RCV005284921]uncertain significance55454325354543253Humanname
598171728CV3911688single nucleotide variantNM_001102575.2(SNX18):c.1360C>T (p.Arg454Cys)not specified [RCV005284923]uncertain significance55451931254519312Humanname
598171743CV3911691single nucleotide variantNM_001102575.2(SNX18):c.1678G>A (p.Val560Met)not specified [RCV005284926]uncertain significance55454323554543235Humanname
598171749CV3911692single nucleotide variantNM_001102575.2(SNX18):c.1589C>T (p.Ala530Val)not specified [RCV005284927]uncertain significance55451954154519541Humanname
598171753CV3911693single nucleotide variantNM_001102575.2(SNX18):c.1418G>A (p.Gly473Asp)not specified [RCV005284928]uncertain significance55451937054519370Humanname
15128660CV709939single nucleotide variantNM_001102575.2(SNX18):c.1409C>G (p.Ser470Cys)not provided [RCV000964123]benign55451936154519361Humanname
156105898CV1992253indelNM_153816.6(SNX14):c.193_194delinsCA (p.Phe65His)not provided [RCV002622385]uncertain significance68557432585574326Humanname
10044328CV188149deletionNM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)Autosomal recessive spinocerebellar ataxia 20 [RCV000170508]|not provided [RCV001093187]pathogenic68550804385508043Human1name
597879677CV3783131deletionNM_153816.6(SNX14):c.2398del (p.Arg799_Val800insTer)not provided [RCV005123833]pathogenic68551422985514229Humanname
13838434CV589737indelNM_153816.6(SNX14):c.1897_1898delinsTT (p.Ala633Leu)not provided [RCV000735127]uncertain significance68552835985528360Humanname
408381085CV3523756microsatelliteNM_153816.6(SNX14):c.1098_1101del (p.Phe365_Cys366insTer)not provided [RCV004766154]pathogenic68554711985547122Humanname
12791870CV362361insertionNM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)Autosomal recessive spinocerebellar ataxia 20 [RCV000416984]pathogenic68553370185533702Human1name
12895092CV406939deletionNM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)Autosomal recessive spinocerebellar ataxia 20 [RCV003225944]|not provided [RCV000485240]pathogenic|uncertain significance68550726585507271Human1name
405170003CV3149899duplicationNM_153816.6(SNX14):c.843_848dup (p.Ser282_Leu283insPheSer)not provided [RCV003841370]uncertain significance68554831985548320Humanname
156191560CV2160891insertionNM_013322.3(SNX10):c.85_86insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGGCATTCTT (p.Tyr29fs)not provided [RCV003024148]pathogenic72636102326361024Humanname
597947244CV3841882insertionNM_013322.3(SNX10):c.249_250insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGGGAGGCTGCAGTGAGCCGAGATGGCAGCAGCACCGTCCAGCCTTGGCTCGGCATCAGAGGGAGACCCTAAAAACCTGTTTTTC (p.Asn84fs)not provided [RCV005189316]pathogenic72636506626365067Humanname
597883796CV3857987insertionNM_153816.6(SNX14):c.597_598insGAGAAGGGTCGAAGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCGTCCCGCCATGGTGGCCGCGGCTGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAATG (p.Lys200delinsGluLysGlyArgArgArgArgGlyLeuGlySerValAlaTer)not provided [RCV005199415]pathogenic68555801285558013Humanname