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


132 records found for search term Clpx
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405289931CV3213944single nucleotide variantNM_006660.5(CLPX):c.*6C>TCLPX-related disorder [RCV003926797]likely benign156515081765150817Humanname , trait , alternate_id
151767070CV1415064single nucleotide variantNM_006660.5(CLPX):c.513+4T>Cnot provided [RCV001929155]uncertain significance156516662765166627Humanname
151729849CV1515586single nucleotide variantNM_006660.5(CLPX):c.673+4G>Anot provided [RCV002041080]uncertain significance156516402565164025Humanname
152134562CV1613406single nucleotide variantNM_006660.5(CLPX):c.893-8A>GCLPX-related disorder [RCV003960882]|not provided [RCV002155973]likely benign156515791865157918Human1name , trait , alternate_id
405227518CV2963455single nucleotide variantNM_006660.5(CLPX):c.892+8A>Tnot provided [RCV003681606]likely benign156515856765158567Humanname
597962731CV3753773single nucleotide variantNM_006660.5(CLPX):c.513+5A>Gnot provided [RCV005082077]uncertain significance156516662665166626Humanname
152098556CV1595430single nucleotide variantNM_006660.5(CLPX):c.240+17A>Gnot provided [RCV002213694]benign156518002765180027Humanname
152111331CV1626219single nucleotide variantNM_006660.5(CLPX):c.674-20A>Gnot provided [RCV002153094]likely benign156516266565162665Humanname
156129306CV2112499single nucleotide variantNM_006660.5(CLPX):c.1612-8A>Gnot provided [RCV002928133]likely benign156515364765153647Humanname
404998519CV3123968single nucleotide variantNM_006660.5(CLPX):c.673+13A>Gnot provided [RCV003827875]uncertain significance156516401665164016Humanname
597875376CV3743819single nucleotide variantNM_006660.5(CLPX):c.674-15C>Tnot provided [RCV005069225]likely benign156516266065162660Humanname
127294300CV1157516single nucleotide variantNM_006660.5(CLPX):c.1146+13G>AProtoporphyria, erythropoietic, 2 [RCV001587442]|not provided [RCV001511685]benign156515683165156831Human1name
152148624CV1528907single nucleotide variantNM_006660.5(CLPX):c.1147-17A>Cnot provided [RCV002101873]likely benign156515587365155873Humanname
156069257CV1952581single nucleotide variantNM_006660.5(CLPX):c.1146+11G>Anot provided [RCV002569554]likely benign156515683365156833Humanname
156197941CV1967890single nucleotide variantNM_006660.5(CLPX):c.1812-16T>Cnot provided [RCV002625629]likely benign156515092965150929Humanname
156059041CV1978867single nucleotide variantNM_006660.5(CLPX):c.1611+19G>Anot provided [RCV002590914]likely benign156515476365154763Humanname
405145874CV2949982single nucleotide variantNM_006660.5(CLPX):c.1311+10T>Cnot provided [RCV003669692]likely benign156515568265155682Humanname
405050916CV3150883single nucleotide variantNM_006660.5(CLPX):c.1312-16A>Cnot provided [RCV003849487]benign156515509765155097Humanname
405233771CV3157952single nucleotide variantNM_006660.5(CLPX):c.1812-17A>Gnot provided [RCV003865708]likely benign156515093065150930Humanname
597921761CV3738422single nucleotide variantNM_006660.5(CLPX):c.1058-13C>Tnot provided [RCV005074829]likely benign156515694565156945Humanname
152096170CV1586817single nucleotide variantNM_006660.5(CLPX):c.42C>A (p.Val14=)not provided [RCV002078378]likely benign156518511265185112Humanname
156412029CV1890278single nucleotide variantNM_006660.5(CLPX):c.72G>A (p.Ala24=)not provided [RCV003072726]likely benign156518508265185082Humanname
156069110CV1952572duplicationNM_006660.5(CLPX):c.513+10_513+13dupnot provided [RCV002569550]likely benign156516661765166618Humanname
156058617CV2024073single nucleotide variantNM_006660.5(CLPX):c.45G>A (p.Arg15=)not provided [RCV002736755]likely benign156518510965185109Humanname
156297597CV2119322single nucleotide variantNM_006660.5(CLPX):c.42C>T (p.Val14=)CLPX-related disorder [RCV003936456]|not provided [RCV002961993]likely benign156518511265185112Human1name , trait , alternate_id
402505593CV2884453single nucleotide variantNM_006660.5(CLPX):c.33G>C (p.Ala11=)not provided [RCV003546330]likely benign156518512165185121Humanname
405138519CV3048769single nucleotide variantNM_006660.5(CLPX):c.33G>T (p.Ala11=)not provided [RCV003725446]likely benign156518512165185121Humanname
597831302CV3743703single nucleotide variantNM_006660.5(CLPX):c.30C>T (p.Gly10=)not provided [RCV005062520]likely benign156518512465185124Humanname
597879132CV3826204single nucleotide variantNM_006660.5(CLPX):c.54C>T (p.Thr18=)not provided [RCV005177900]likely benign156518510065185100Humanname
156447524CV1945484single nucleotide variantNM_006660.5(CLPX):c.291G>T (p.Gly97=)not provided [RCV003119054]likely benign156517900165179001Humanname
155994636CV1986818single nucleotide variantNM_006660.5(CLPX):c.22A>G (p.Thr8Ala)not provided [RCV002618176]uncertain significance156518513265185132Humanname
405213596CV2878869single nucleotide variantNM_006660.5(CLPX):c.264T>C (p.Ser88=)not provided [RCV003552896]likely benign156517902865179028Humanname
597830512CV3743049single nucleotide variantNM_006660.5(CLPX):c.145C>T (p.Leu49=)not provided [RCV005062057]likely benign156518013965180139Humanname
152085173CV1555023single nucleotide variantNM_006660.5(CLPX):c.56C>T (p.Ser19Phe)not provided [RCV002211945]likely benign156518509865185098Humanname
152122793CV1632077single nucleotide variantNM_006660.5(CLPX):c.95G>C (p.Arg32Pro)not provided [RCV002118059]benign156518018965180189Humanname
156201860CV2092533single nucleotide variantNM_006660.5(CLPX):c.41T>C (p.Val14Ala)not provided [RCV002917815]likely benign156518511365185113Humanname
156351119CV2316347single nucleotide variantNM_006660.5(CLPX):c.47T>G (p.Leu16Arg)not specified [RCV004174356]uncertain significance156518510765185107Humanname
401735646CV2702832single nucleotide variantNM_006660.5(CLPX):c.41T>G (p.Val14Gly)not provided [RCV003720832]|not specified [RCV004319390]uncertain significance156518511365185113Humanname
402494460CV2874383single nucleotide variantNM_006660.5(CLPX):c.987C>T (p.Gly329=)not provided [RCV003545249]benign156515781665157816Humanname
405222149CV2908345single nucleotide variantNM_006660.5(CLPX):c.29G>C (p.Gly10Ala)not provided [RCV003568598]uncertain significance156518512565185125Humanname
405250550CV3052953single nucleotide variantNM_006660.5(CLPX):c.327C>T (p.Gly109=)not provided [RCV003721651]likely benign156517896565178965Humanname
405209663CV3117299single nucleotide variantNM_006660.5(CLPX):c.55T>G (p.Ser19Ala)not provided [RCV003823086]uncertain significance156518509965185099Humanname
405071847CV3140361single nucleotide variantNM_006660.5(CLPX):c.46C>A (p.Leu16Ile)not provided [RCV003833516]uncertain significance156518510865185108Humanname
402483867CV3171210single nucleotide variantNM_006660.5(CLPX):c.37G>A (p.Ala13Thr)not provided [RCV003876237]uncertain significance156518511765185117Humanname
597936319CV3759577single nucleotide variantNM_006660.5(CLPX):c.38C>T (p.Ala13Val)Protoporphyria, erythropoietic, 2 [RCV005358201]|not provided [RCV005076697]uncertain significance156518511665185116Human1name
597929664CV3780147single nucleotide variantNM_006660.5(CLPX):c.345A>G (p.Val115=)not provided [RCV005116467]likely benign156517894765178947Humanname
597906266CV3804023single nucleotide variantNM_006660.5(CLPX):c.639A>G (p.Ala213=)not provided [RCV005153569]benign156516406365164063Humanname
597954419CV3844413single nucleotide variantNM_006660.5(CLPX):c.420A>G (p.Ala140=)not provided [RCV005191086]likely benign156516672465166724Humanname
151749838CV1357273single nucleotide variantNM_006660.5(CLPX):c.193G>T (p.Ala65Ser)not provided [RCV001872144]|not specified [RCV004039680]uncertain significance156518009165180091Humanname
152063128CV1524653single nucleotide variantNM_006660.5(CLPX):c.1398G>A (p.Ser466=)CLPX-related disorder [RCV003958782]|not provided [RCV002147025]benign|likely benign156515499565154995Human1name , trait , alternate_id
152175762CV1527169single nucleotide variantNM_006660.5(CLPX):c.1038T>C (p.Asn346=)not provided [RCV002163899]likely benign156515776565157765Humanname
152108024CV1529926single nucleotide variantNM_006660.5(CLPX):c.1065C>G (p.Val355=)not provided [RCV002196407]likely benign156515692565156925Humanname
152160136CV1544543single nucleotide variantNM_006660.5(CLPX):c.1695G>T (p.Arg565=)not provided [RCV002123038]benign156515355665153556Humanname
152172018CV1575696single nucleotide variantNM_006660.5(CLPX):c.1380T>C (p.Ala460=)not provided [RCV002183700]likely benign156515501365155013Humanname
152077505CV1630903single nucleotide variantNM_006660.5(CLPX):c.1152A>G (p.Leu384=)not provided [RCV002130420]benign156515585165155851Humanname
152116731CV1643324single nucleotide variantNM_006660.5(CLPX):c.1113A>G (p.Gln371=)not provided [RCV002216235]likely benign156515687765156877Humanname
152066291CV1646983single nucleotide variantNM_006660.5(CLPX):c.1443T>C (p.His481=)not provided [RCV002129019]benign156515495065154950Humanname
152172905CV1652779single nucleotide variantNM_006660.5(CLPX):c.137C>T (p.Thr46Ile)CLPX-related disorder [RCV003951254]|not provided [RCV002143932]likely benign156518014765180147Human1name , trait , alternate_id
156349658CV1978179single nucleotide variantNM_006660.5(CLPX):c.1788A>G (p.Gly596=)not provided [RCV002601731]likely benign156515245365152453Humanname
156312750CV2078969single nucleotide variantNM_006660.5(CLPX):c.1305T>C (p.Asn435=)not provided [RCV002898813]likely benign156515569865155698Humanname
401771778CV2711899single nucleotide variantNM_006660.5(CLPX):c.128C>T (p.Thr43Ile)not specified [RCV004309521]uncertain significance156518015665180156Humanname
405223117CV2891002single nucleotide variantNM_006660.5(CLPX):c.1485G>A (p.Glu495=)not provided [RCV003554123]likely benign156515490865154908Humanname
405007152CV3117578single nucleotide variantNM_006660.5(CLPX):c.1854A>T (p.Gly618=)not provided [RCV003828633]likely benign156515087165150871Humanname
405242507CV3173254single nucleotide variantNM_006660.5(CLPX):c.1587C>T (p.Tyr529=)not provided [RCV003867539]likely benign156515480665154806Humanname
407463486CV3429299single nucleotide variantNM_006660.5(CLPX):c.140A>G (p.Gln47Arg)not provided [RCV005059621]|not specified [RCV004613153]uncertain significance156518014465180144Humanname
407463474CV3429302single nucleotide variantNM_006660.5(CLPX):c.153A>C (p.Arg51Ser)not specified [RCV004613156]uncertain significance156518013165180131Humanname
597971550CV3833095single nucleotide variantNM_006660.5(CLPX):c.1803A>T (p.Gly601=)not provided [RCV005166992]likely benign156515243865152438Humanname
151722789CV1406703single nucleotide variantNM_006660.5(CLPX):c.484C>G (p.Gln162Glu)not provided [RCV002003903]uncertain significance156516666065166660Humanname
151849305CV1453145single nucleotide variantNM_006660.5(CLPX):c.601A>C (p.Ile201Leu)not provided [RCV002032951]uncertain significance156516410165164101Humanname
151716342CV1513047single nucleotide variantNM_006660.5(CLPX):c.712A>G (p.Thr238Ala)not provided [RCV001890390]uncertain significance156516260765162607Humanname
152059318CV1536068single nucleotide variantNM_006660.5(CLPX):c.310C>T (p.Arg104Cys)not provided [RCV002146588]likely benign156517898265178982Humanname
152092192CV1631764single nucleotide variantNM_006660.5(CLPX):c.748G>A (p.Gly250Ser)CLPX-related disorder [RCV003913724]|not provided [RCV002132181]benign156515871965158719Human1name , trait , alternate_id
152085340CV1633468single nucleotide variantNM_006660.5(CLPX):c.463G>A (p.Glu155Lys)not provided [RCV002113307]|not specified [RCV004046283]likely benign|uncertain significance156516668165166681Humanname
155922398CV2284340single nucleotide variantNM_006660.5(CLPX):c.467C>T (p.Ala156Val)not specified [RCV004146687]uncertain significance156516667765166677Humanname
156073444CV2321560single nucleotide variantNM_006660.5(CLPX):c.439A>G (p.Ile147Val)not specified [RCV004177803]uncertain significance156516670565166705Humanname
156395588CV2329272single nucleotide variantNM_006660.5(CLPX):c.493C>T (p.Pro165Ser)not specified [RCV004174011]uncertain significance156516665165166651Humanname
401743968CV2722252single nucleotide variantNM_006660.5(CLPX):c.364A>G (p.Thr122Ala)not specified [RCV004328810]uncertain significance156516678065166780Humanname
405129079CV2894917single nucleotide variantNM_006660.5(CLPX):c.368G>A (p.Arg123His)not provided [RCV003559863]uncertain significance156516677665166776Humanname
404998495CV3123966single nucleotide variantNM_006660.5(CLPX):c.550T>C (p.Ser184Pro)not provided [RCV003827873]uncertain significance156516415265164152Humanname
405011917CV3128145single nucleotide variantNM_006660.5(CLPX):c.656C>T (p.Thr219Ile)not provided [RCV003829025]uncertain significance156516404665164046Humanname
405163336CV3153190single nucleotide variantNM_006660.5(CLPX):c.382G>A (p.Glu128Lys)not provided [RCV003840925]uncertain significance156516676265166762Humanname
405226565CV3169442single nucleotide variantNM_006660.5(CLPX):c.298G>A (p.Gly100Arg)not provided [RCV003864466]|not specified [RCV004614560]uncertain significance156517899465178994Humanname
405241940CV3173217single nucleotide variantNM_006660.5(CLPX):c.330C>G (p.Asp110Glu)not provided [RCV003867502]uncertain significance156517896265178962Humanname
405783182CV3305801single nucleotide variantNM_006660.5(CLPX):c.628A>G (p.Arg210Gly)not specified [RCV004437313]uncertain significance156516407465164074Humanname
405783187CV3305802single nucleotide variantNM_006660.5(CLPX):c.761G>T (p.Gly254Val)not specified [RCV004437314]uncertain significance156515870665158706Humanname
407463482CV3429300single nucleotide variantNM_006660.5(CLPX):c.425C>T (p.Ser142Leu)not specified [RCV004613154]uncertain significance156516671965166719Humanname
596932823CV3539476single nucleotide variantNM_006660.5(CLPX):c.749G>A (p.Gly250Asp)not provided [RCV004794100]uncertain significance156515871865158718Humanname
597792009CV3656901single nucleotide variantNM_006660.5(CLPX):c.428A>G (p.Lys143Arg)not specified [RCV004902514]uncertain significance156516671665166716Humanname
597792012CV3656902single nucleotide variantNM_006660.5(CLPX):c.518A>G (p.Tyr173Cys)not specified [RCV004902515]uncertain significance156516418465164184Humanname
597792014CV3656903single nucleotide variantNM_006660.5(CLPX):c.644T>C (p.Val215Ala)not specified [RCV004902516]uncertain significance156516405865164058Humanname
597846342CV3736592single nucleotide variantNM_006660.5(CLPX):c.365C>A (p.Thr122Asn)not provided [RCV005065751]uncertain significance156516677965166779Humanname
597858290CV3748251single nucleotide variantNM_006660.5(CLPX):c.769A>G (p.Met257Val)not provided [RCV005067073]uncertain significance156515869865158698Humanname
597862554CV3770612single nucleotide variantNM_006660.5(CLPX):c.946A>G (p.Ile316Val)not provided [RCV005106261]likely benign156515785765157857Humanname
597891295CV3784976single nucleotide variantNM_006660.5(CLPX):c.305A>G (p.Gln102Arg)not provided [RCV005125755]uncertain significance156517898765178987Humanname
597953872CV3795645single nucleotide variantNM_006660.5(CLPX):c.436A>G (p.Ile146Val)not provided [RCV005136655]uncertain significance156516670865166708Humanname
13674127CV536074single nucleotide variantNM_006660.5(CLPX):c.893G>A (p.Gly298Asp)Protoporphyria, erythropoietic, 2 [RCV000656530]pathogenic|likely pathogenic156515791065157910Human1name
152111579CV1539940single nucleotide variantNM_006660.5(CLPX):c.1463T>C (p.Ile488Thr)not provided [RCV002153123]likely benign|conflicting interpretations of pathogenicity156515493065154930Humanname
156279850CV1900467single nucleotide variantNM_006660.5(CLPX):c.1271A>G (p.Asn424Ser)not provided [RCV003087073]|not specified [RCV004073314]uncertain significance156515573265155732Humanname
156317370CV1901322single nucleotide variantNM_006660.5(CLPX):c.1397C>T (p.Ser466Leu)not provided [RCV002579028]uncertain significance156515499665154996Humanname
156405595CV1919410single nucleotide variantNM_006660.5(CLPX):c.1763A>T (p.Glu588Val)not provided [RCV002585683]benign156515247865152478Humanname
155912957CV1990237single nucleotide variantNM_006660.5(CLPX):c.1361C>T (p.Ala454Val)not provided [RCV002614122]uncertain significance156515503265155032Humanname
155942796CV2002744single nucleotide variantNM_006660.5(CLPX):c.1430G>A (p.Arg477Gln)not provided [RCV002685571]uncertain significance156515496365154963Humanname
156405890CV2004504single nucleotide variantNM_006660.5(CLPX):c.1237A>G (p.Thr413Ala)not provided [RCV002658422]uncertain significance156515576665155766Humanname
156034552CV2246505single nucleotide variantNM_006660.5(CLPX):c.1453A>G (p.Arg485Gly)not specified [RCV004110262]uncertain significance156515494065154940Humanname
156309017CV2249594single nucleotide variantNM_006660.5(CLPX):c.1391G>A (p.Gly464Glu)not specified [RCV004120611]uncertain significance156515500265155002Humanname
155991417CV2256443single nucleotide variantNM_006660.5(CLPX):c.1591G>A (p.Ala531Thr)not specified [RCV004118658]uncertain significance156515480265154802Humanname
156090502CV2302572single nucleotide variantNM_006660.5(CLPX):c.1868G>A (p.Gly623Glu)not specified [RCV004160740]uncertain significance156515085765150857Humanname
156156419CV2368022single nucleotide variantNM_006660.5(CLPX):c.1032T>G (p.Asn344Lys)not specified [RCV004223107]uncertain significance156515777165157771Humanname
156161107CV2371361single nucleotide variantNM_006660.5(CLPX):c.1056A>C (p.Gln352His)not provided [RCV003778555]|not specified [RCV004223365]uncertain significance156515774765157747Humanname
329377154CV2435827single nucleotide variantNM_006660.5(CLPX):c.1841A>G (p.Glu614Gly)not provided [RCV005101230]|not specified [RCV004255067]uncertain significance156515088465150884Humanname
405225261CV2881967single nucleotide variantNM_006660.5(CLPX):c.1249T>C (p.Phe417Leu)not provided [RCV003554546]uncertain significance156515575465155754Humanname
405200727CV2918533single nucleotide variantNM_006660.5(CLPX):c.1373A>T (p.Asp458Val)not provided [RCV003565918]uncertain significance156515502065155020Humanname
405138259CV2970200single nucleotide variantNM_006660.5(CLPX):c.1652C>A (p.Ala551Asp)not provided [RCV003668974]uncertain significance156515359965153599Humanname
405026460CV2999966single nucleotide variantNM_006660.5(CLPX):c.1424A>G (p.Lys475Arg)not provided [RCV003695249]uncertain significance156515496965154969Humanname
405139314CV3045412single nucleotide variantNM_006660.5(CLPX):c.1429C>T (p.Arg477Trp)not provided [RCV003725509]uncertain significance156515496465154964Humanname
405204587CV3116887single nucleotide variantNM_006660.5(CLPX):c.1117C>T (p.Arg373Trp)not provided [RCV003822371]uncertain significance156515687365156873Humanname
404984245CV3121696single nucleotide variantNM_006660.5(CLPX):c.1615G>A (p.Glu539Lys)not provided [RCV003826495]|not specified [RCV004614539]uncertain significance156515363665153636Humanname
402504831CV3181501single nucleotide variantNM_006660.5(CLPX):c.1252G>A (p.Val418Met)not provided [RCV003878335]uncertain significance156515575165155751Humanname
405783162CV3305798single nucleotide variantNM_006660.5(CLPX):c.1438C>T (p.Arg480Cys)not specified [RCV004437310]uncertain significance156515495565154955Humanname
405783169CV3305799single nucleotide variantNM_006660.5(CLPX):c.1747G>C (p.Asp583His)not specified [RCV004437311]uncertain significance156515249465152494Humanname
405783175CV3305800single nucleotide variantNM_006660.5(CLPX):c.1891G>A (p.Ala631Thr)not specified [RCV004437312]uncertain significance156515083465150834Humanname
407463478CV3429301single nucleotide variantNM_006660.5(CLPX):c.1136G>A (p.Gly379Asp)not specified [RCV004613155]uncertain significance156515685465156854Humanname
408367286CV3508416single nucleotide variantNM_006660.5(CLPX):c.1258T>C (p.Ser420Pro)CLPX-related disorder [RCV004758321]uncertain significance156515574565155745Humanname , trait , alternate_id
597792017CV3656904single nucleotide variantNM_006660.5(CLPX):c.1810C>G (p.Arg604Gly)not specified [RCV004902517]uncertain significance156515243165152431Humanname
597962727CV3753772single nucleotide variantNM_006660.5(CLPX):c.1808T>A (p.Ile603Asn)not provided [RCV005082076]uncertain significance156515243365152433Humanname
597886252CV3787387single nucleotide variantNM_006660.5(CLPX):c.1775A>G (p.Glu592Gly)not provided [RCV005124953]uncertain significance156515246665152466Humanname
597871093CV3835648single nucleotide variantNM_006660.5(CLPX):c.1898G>C (p.Ser633Thr)not provided [RCV005176639]uncertain significance156515082765150827Humanname
597952965CV3843873single nucleotide variantNM_006660.5(CLPX):c.1807A>G (p.Ile603Val)not provided [RCV005190735]uncertain significance156515243465152434Humanname
598244822CV3944809single nucleotide variantNM_006660.5(CLPX):c.1813G>A (p.Ala605Thr)not specified [RCV005322098]uncertain significance156515091265150912Humanname
598244831CV3944810single nucleotide variantNM_006660.5(CLPX):c.1888G>T (p.Ala630Ser)not specified [RCV005322099]uncertain significance156515083765150837Humanname
8635536CV90757single nucleotide variantNM_006660.3(CLPX):c.1829C>T (p.Ser610Phe)Malignant melanoma [RCV000070855]not provided156515089665150896Humanname
597945687CV3755416microsatelliteNM_006660.5(CLPX):c.1859AAG[2] (p.Glu622del)not provided [RCV005078425]uncertain significance156515085865150860Humanname