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


98 records found for search term Cenpt
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405275522CV3215961single nucleotide variantNM_025082.4(CENPT):c.-6G>TCENPT-related disorder [RCV003952244]benign166783386567833865Humanname , trait , alternate_id
401934504CV2808053single nucleotide variantNM_025082.4(CENPT):c.386+7A>GCENPT-related disorder [RCV003954147]|not provided [RCV003411373]likely benign166783200567832005Human1name , trait , alternate_id
405285867CV3191863single nucleotide variantNM_025082.4(CENPT):c.202-5G>ACENPT-related disorder [RCV003923812]benign166783232067832320Humanname , trait , alternate_id
405259177CV3194540single nucleotide variantNM_025082.4(CENPT):c.524-5G>CCENPT-related disorder [RCV003893935]likely benign166783161767831617Humanname , trait , alternate_id
405294576CV3208969single nucleotide variantNM_025082.4(CENPT):c.111-9T>ACENPT-related disorder [RCV003934480]benign166783255467832554Humanname , trait , alternate_id
150413827CV1199841single nucleotide variantNM_025082.4(CENPT):c.703+46C>TShort stature and microcephaly with genital anomalies [RCV001578984]|not provided [RCV004710325]benign166783117067831170Human1name
405291698CV3205976single nucleotide variantNM_025082.4(CENPT):c.387-10A>GCENPT-related disorder [RCV003964074]likely benign166783190067831900Humanname , trait , alternate_id
15173952CV789156single nucleotide variantNM_025082.4(CENPT):c.1186+1G>AShort stature and microcephaly with genital anomalies [RCV000984535]pathogenic166782976467829764Human1name
150413824CV1199840single nucleotide variantNM_025082.4(CENPT):c.1187-32A>GShort stature and microcephaly with genital anomalies [RCV001578983]|not provided [RCV004710324]benign166782954867829548Human1name
150413830CV1199842single nucleotide variantNM_025082.4(CENPT):c.24C>A (p.Ser8Arg)CENPT-related disorder [RCV003980720]|Short stature and microcephaly with genital anomalies [RCV001578985]|not provided [RCV004710326]benign166783383667833836Human1name , trait , alternate_id
329372278CV2455141single nucleotide variantNM_025082.4(CENPT):c.23G>A (p.Ser8Asn)not specified [RCV004272385]uncertain significance166783383767833837Humanname
405284828CV3190839single nucleotide variantNM_025082.4(CENPT):c.264G>A (p.Thr88=)CENPT-related disorder [RCV003909405]likely benign166783225367832253Humanname , trait , alternate_id
597779725CV3645564single nucleotide variantNM_025082.4(CENPT):c.13A>C (p.Asn5His)not specified [RCV004899337]uncertain significance166783384767833847Humanname
401719497CV2729234single nucleotide variantNM_025082.4(CENPT):c.83C>T (p.Pro28Leu)not specified [RCV004332701]uncertain significance166783377767833777Humanname
405293940CV3203258single nucleotide variantNM_025082.4(CENPT):c.759C>T (p.Asn253=)CENPT-related disorder [RCV003933819]likely benign166783049367830493Humanname , trait , alternate_id
405255995CV3208487single nucleotide variantNM_025082.4(CENPT):c.819C>T (p.Ala273=)CENPT-related disorder [RCV003939578]likely benign166783043367830433Humanname , trait , alternate_id
405294555CV3209080single nucleotide variantNM_025082.4(CENPT):c.67G>A (p.Ala23Thr)CENPT-related disorder [RCV003934501]benign166783379367833793Humanname , trait , alternate_id
597779686CV3645554single nucleotide variantNM_025082.4(CENPT):c.73C>G (p.Pro25Ala)not specified [RCV004899327]uncertain significance166783378767833787Humanname
15168225CV740303single nucleotide variantNM_025082.4(CENPT):c.540T>C (p.Ala180=)CENPT-related disorder [RCV003923048]|not provided [RCV000904809]benign166783159667831596Human1name , trait , alternate_id
156104571CV2260587single nucleotide variantNM_025082.4(CENPT):c.164C>G (p.Thr55Arg)not specified [RCV004123357]uncertain significance166783249267832492Humanname
156203381CV2313303single nucleotide variantNM_025082.4(CENPT):c.121G>A (p.Ala41Thr)not specified [RCV004161545]uncertain significance166783253567832535Humanname
156228797CV2400112single nucleotide variantNM_025082.4(CENPT):c.170C>G (p.Thr57Arg)not specified [RCV004242920]uncertain significance166783248667832486Humanname
329366069CV2438065single nucleotide variantNM_025082.4(CENPT):c.259C>T (p.Arg87Trp)not specified [RCV004256854]uncertain significance166783225867832258Humanname
401750348CV2715602single nucleotide variantNM_025082.4(CENPT):c.233G>T (p.Ser78Ile)not specified [RCV004326991]uncertain significance166783228467832284Humanname
401903350CV2808054single nucleotide variantNM_025082.4(CENPT):c.239A>G (p.His80Arg)not provided [RCV003419375]uncertain significance166783227867832278Humanname
401944506CV2840165single nucleotide variantNM_025082.4(CENPT):c.116G>A (p.Arg39Gln)not provided [RCV003457255]likely benign166783254067832540Humanname
405762283CV3300315single nucleotide variantNM_025082.4(CENPT):c.293C>G (p.Pro98Arg)not specified [RCV004433832]uncertain significance166783210567832105Humanname
597779673CV3645551single nucleotide variantNM_025082.4(CENPT):c.134C>T (p.Thr45Met)not specified [RCV004899324]uncertain significance166783252267832522Humanname
597779717CV3645562single nucleotide variantNM_025082.4(CENPT):c.295G>C (p.Glu99Gln)not specified [RCV004899335]uncertain significance166783210367832103Humanname
598241465CV3951469single nucleotide variantNM_025082.4(CENPT):c.287C>T (p.Thr96Ile)not specified [RCV005321551]uncertain significance166783223067832230Humanname
598241471CV3951473single nucleotide variantNM_025082.4(CENPT):c.185G>A (p.Arg62His)not specified [RCV005321552]uncertain significance166783247167832471Humanname
598208191CV3951479single nucleotide variantNM_025082.4(CENPT):c.174A>G (p.Ile58Met)not specified [RCV005315425]uncertain significance166783248267832482Humanname
598208226CV3951488single nucleotide variantNM_025082.4(CENPT):c.1140C>T (p.Asp380=)not specified [RCV005315433]likely benign166782981167829811Humanname
15123814CV755319single nucleotide variantNM_025082.4(CENPT):c.1570C>T (p.Leu524=)not provided [RCV000918882]likely benign166782838367828383Humanname
155915172CV2204025single nucleotide variantNM_025082.4(CENPT):c.407A>C (p.Glu136Ala)not specified [RCV004070063]uncertain significance166783187067831870Humanname
156379155CV2207896single nucleotide variantNM_025082.4(CENPT):c.763T>C (p.Tyr255His)not specified [RCV004084322]likely benign166783048967830489Humanname
156096227CV2210405single nucleotide variantNM_025082.4(CENPT):c.820G>A (p.Gly274Ser)not specified [RCV004089553]likely benign166783043267830432Humanname
156021333CV2264447single nucleotide variantNM_025082.4(CENPT):c.365G>A (p.Arg122Lys)not specified [RCV004138345]uncertain significance166783203367832033Humanname
156281881CV2363079single nucleotide variantNM_025082.4(CENPT):c.644G>A (p.Arg215Gln)not specified [RCV004211206]uncertain significance166783127567831275Humanname
329393744CV2449831single nucleotide variantNM_025082.4(CENPT):c.455G>C (p.Arg152Thr)not specified [RCV004268928]uncertain significance166783182267831822Humanname
401736454CV2703146single nucleotide variantNM_025082.4(CENPT):c.997G>A (p.Ala333Thr)not specified [RCV004321432]uncertain significance166782995467829954Humanname
401749490CV2703147single nucleotide variantNM_025082.4(CENPT):c.998C>G (p.Ala333Gly)not specified [RCV004321433]uncertain significance166782995367829953Humanname
401742564CV2715262single nucleotide variantNM_025082.4(CENPT):c.805G>A (p.Ala269Thr)not specified [RCV004324605]uncertain significance166783044767830447Humanname
405289313CV3205055single nucleotide variantNM_025082.4(CENPT):c.361T>G (p.Ser121Ala)CENPT-related disorder [RCV003961668]benign166783203767832037Humanname , trait , alternate_id
405289543CV3205242single nucleotide variantNM_025082.4(CENPT):c.707T>C (p.Ile236Thr)CENPT-related disorder [RCV003961824]likely benign166783054567830545Humanname , trait , alternate_id
405276533CV3206728single nucleotide variantNM_025082.4(CENPT):c.364A>G (p.Arg122Gly)CENPT-related disorder [RCV003917164]benign166783203467832034Human1name , trait , alternate_id
405289959CV3219105single nucleotide variantNM_025082.4(CENPT):c.377G>A (p.Ser126Asn)CENPT-related disorder [RCV003962051]likely benign166783202167832021Humanname , trait , alternate_id
405762289CV3300316single nucleotide variantNM_025082.4(CENPT):c.394C>G (p.Leu132Val)not specified [RCV004433833]uncertain significance166783188367831883Humanname
405762295CV3300317single nucleotide variantNM_025082.4(CENPT):c.419C>G (p.Pro140Arg)not specified [RCV004433834]uncertain significance166783185867831858Humanname
405762301CV3300318single nucleotide variantNM_025082.4(CENPT):c.640C>T (p.Arg214Cys)not specified [RCV004433835]uncertain significance166783127967831279Humanname
405762311CV3300319single nucleotide variantNM_025082.4(CENPT):c.986G>T (p.Gly329Val)not specified [RCV004433836]uncertain significance166782996567829965Humanname
407461937CV3419031single nucleotide variantNM_025082.4(CENPT):c.823C>T (p.Arg275Cys)not specified [RCV004612732]uncertain significance166783042967830429Humanname
407461940CV3419032single nucleotide variantNM_025082.4(CENPT):c.622G>A (p.Ala208Thr)not specified [RCV004612733]uncertain significance166783129767831297Humanname
597779661CV3645548single nucleotide variantNM_025082.4(CENPT):c.947G>A (p.Gly316Asp)not specified [RCV004899321]uncertain significance166783000467830004Humanname
597779677CV3645552single nucleotide variantNM_025082.4(CENPT):c.416C>A (p.Pro139His)not specified [RCV004899325]uncertain significance166783186167831861Humanname
597779681CV3645553single nucleotide variantNM_025082.4(CENPT):c.625C>T (p.Arg209Cys)not specified [RCV004899326]uncertain significance166783129467831294Humanname
597779698CV3645557single nucleotide variantNM_025082.4(CENPT):c.671G>A (p.Arg224Gln)not specified [RCV004899330]likely benign166783124867831248Humanname
597779701CV3645558single nucleotide variantNM_025082.4(CENPT):c.877G>A (p.Ala293Thr)not specified [RCV004899331]uncertain significance166783007467830074Humanname
597779709CV3645560single nucleotide variantNM_025082.4(CENPT):c.381C>G (p.Cys127Trp)not specified [RCV004899333]uncertain significance166783201767832017Humanname
597779722CV3645563single nucleotide variantNM_025082.4(CENPT):c.755C>T (p.Pro252Leu)not specified [RCV004899336]uncertain significance166783049767830497Humanname
598208174CV3951474single nucleotide variantNM_025082.4(CENPT):c.584C>T (p.Thr195Ile)not specified [RCV005315421]uncertain significance166783133567831335Humanname
598241477CV3951475single nucleotide variantNM_025082.4(CENPT):c.358C>T (p.Pro120Ser)not specified [RCV005321553]likely benign166783204067832040Humanname
598208186CV3951478single nucleotide variantNM_025082.4(CENPT):c.689C>T (p.Ser230Phe)not specified [RCV005315424]uncertain significance166783123067831230Humanname
598208196CV3951480single nucleotide variantNM_025082.4(CENPT):c.457A>G (p.Arg153Gly)not specified [RCV005315426]uncertain significance166783182067831820Humanname
598208207CV3951483single nucleotide variantNM_025082.4(CENPT):c.569A>G (p.Asn190Ser)not specified [RCV005315428]uncertain significance166783135067831350Humanname
598208210CV3951484single nucleotide variantNM_025082.4(CENPT):c.974C>T (p.Pro325Leu)not specified [RCV005315429]uncertain significance166782997767829977Humanname
598208222CV3951487single nucleotide variantNM_025082.4(CENPT):c.911A>G (p.Asn304Ser)not specified [RCV005315432]uncertain significance166783004067830040Humanname
156387210CV2221442single nucleotide variantNM_025082.4(CENPT):c.1503T>G (p.Phe501Leu)not specified [RCV004096731]uncertain significance166782853367828533Humanname
156123473CV2276179single nucleotide variantNM_025082.4(CENPT):c.1652C>T (p.Ala551Val)not specified [RCV004141837]uncertain significance166782830167828301Humanname
156345050CV2346339single nucleotide variantNM_025082.4(CENPT):c.1558C>G (p.Arg520Gly)not specified [RCV004203823]uncertain significance166782847867828478Humanname
156089295CV2359359single nucleotide variantNM_025082.4(CENPT):c.1159G>A (p.Gly387Arg)not specified [RCV004212638]uncertain significance166782979267829792Humanname
155910479CV2369959single nucleotide variantNM_025082.4(CENPT):c.1276G>A (p.Ala426Thr)not specified [RCV004208423]uncertain significance166782942767829427Humanname
329401936CV2458002single nucleotide variantNM_025082.4(CENPT):c.1367A>T (p.His456Leu)not specified [RCV004271575]uncertain significance166782875767828757Humanname
401721875CV2680718single nucleotide variantNM_025082.4(CENPT):c.1115G>T (p.Gly372Val)not specified [RCV004291329]uncertain significance166782983667829836Humanname
401729412CV2733029single nucleotide variantNM_025082.4(CENPT):c.1333C>T (p.Arg445Trp)not specified [RCV004331200]uncertain significance166782879167828791Humanname
401888033CV2791953single nucleotide variantNM_025082.4(CENPT):c.1478A>T (p.His493Leu)not specified [RCV004359376]uncertain significance166782855867828558Humanname
405293951CV3203269single nucleotide variantNM_025082.4(CENPT):c.1265C>T (p.Ala422Val)CENPT-related disorder [RCV003933830]likely benign166782943867829438Humanname , trait , alternate_id
405295053CV3210987single nucleotide variantNM_025082.4(CENPT):c.1321C>G (p.Pro441Ala)CENPT-related disorder [RCV003936992]benign166782880367828803Humanname , trait , alternate_id
405762267CV3300312single nucleotide variantNM_025082.4(CENPT):c.1199C>T (p.Ser400Leu)not specified [RCV004433829]likely benign166782950467829504Humanname
405762272CV3300313single nucleotide variantNM_025082.4(CENPT):c.1340C>A (p.Thr447Asn)not specified [RCV004433830]uncertain significance166782878467828784Humanname
405762277CV3300314single nucleotide variantNM_025082.4(CENPT):c.1436C>T (p.Ala479Val)not specified [RCV004433831]uncertain significance166782868867828688Humanname
407461930CV3419029single nucleotide variantNM_025082.4(CENPT):c.1610G>A (p.Arg537Gln)not specified [RCV004612730]uncertain significance166782834367828343Humanname
407461932CV3419030single nucleotide variantNM_025082.4(CENPT):c.1412C>T (p.Ala471Val)not specified [RCV004612731]uncertain significance166782871267828712Humanname
408382052CV3525584single nucleotide variantNM_025082.4(CENPT):c.1519C>T (p.Arg507Cys)not specified [RCV004766493]likely benign166782851767828517Humanname
597779657CV3645547single nucleotide variantNM_025082.4(CENPT):c.1286C>T (p.Ser429Phe)not specified [RCV004899320]uncertain significance166782883867828838Humanname
597779665CV3645549single nucleotide variantNM_025082.4(CENPT):c.1376G>C (p.Gly459Ala)not specified [RCV004899322]uncertain significance166782874867828748Humanname
597779669CV3645550single nucleotide variantNM_025082.4(CENPT):c.1396C>T (p.Leu466Phe)not specified [RCV004899323]uncertain significance166782872867828728Humanname
597779690CV3645555single nucleotide variantNM_025082.4(CENPT):c.1631G>A (p.Arg544Gln)not specified [RCV004899328]uncertain significance166782832267828322Humanname
597779693CV3645556single nucleotide variantNM_025082.4(CENPT):c.1295C>T (p.Pro432Leu)not specified [RCV004899329]uncertain significance166782882967828829Humanname
597779705CV3645559single nucleotide variantNM_025082.4(CENPT):c.1597G>A (p.Val533Met)not specified [RCV004899332]uncertain significance166782835667828356Humanname
597779713CV3645561single nucleotide variantNM_025082.4(CENPT):c.1525A>G (p.Thr509Ala)not specified [RCV004899334]uncertain significance166782851167828511Humanname
598208160CV3951470single nucleotide variantNM_025082.4(CENPT):c.1180A>G (p.Arg394Gly)not specified [RCV005315418]uncertain significance166782977167829771Humanname
598208166CV3951471single nucleotide variantNM_025082.4(CENPT):c.1334G>A (p.Arg445Gln)not specified [RCV005315419]uncertain significance166782879067828790Humanname
598208178CV3951476single nucleotide variantNM_025082.4(CENPT):c.1409A>G (p.Tyr470Cys)not specified [RCV005315422]uncertain significance166782871567828715Humanname
598208182CV3951477single nucleotide variantNM_025082.4(CENPT):c.1415A>G (p.Lys472Arg)not specified [RCV005315423]uncertain significance166782870967828709Humanname
598241484CV3951481single nucleotide variantNM_025082.4(CENPT):c.1597G>C (p.Val533Leu)not specified [RCV005321554]uncertain significance166782835667828356Humanname
598208214CV3951485single nucleotide variantNM_025082.4(CENPT):c.1351C>A (p.Pro451Thr)not specified [RCV005315430]uncertain significance166782877367828773Humanname
598208219CV3951486single nucleotide variantNM_025082.4(CENPT):c.1150G>A (p.Ala384Thr)not specified [RCV005315431]uncertain significance166782980167829801Humanname