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Pathways
Variants search result for All species
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98 records found for search term Exoc2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598198711CV4007214single nucleotide variantNM_018303.6(EXOC2):c.1932+4A>CNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV005398044]uncertain significance6556480556480Human1name
408394098CV3526347single nucleotide variantNM_018303.6(EXOC2):c.1443+10C>TNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV004771779]uncertain significance6572510572510Human1name
8581956CV116405single nucleotide variantNM_018303.5(EXOC2):c.2381-509A>GLung cancer [RCV000096928]uncertain significance6500209500209Humanname
8582013CV116465single nucleotide variantNM_018303.5(EXOC2):c.1667+125G>ALung cancer [RCV000096988]uncertain significance6564420564420Humanname
150340263CV1168088single nucleotide variantNM_018303.6(EXOC2):c.-43-18694C>Anot provided [RCV001535173]benign6656555656555Humanname
401918212CV2825662single nucleotide variantNM_018303.6(EXOC2):c.24C>G (p.Pro8=)not provided [RCV003430066]likely benign6637795637795Humanname
401918211CV2825661single nucleotide variantNM_018303.6(EXOC2):c.33C>T (p.Thr11=)not provided [RCV003430065]likely benign6637786637786Humanname
152103106CV1667383single nucleotide variantNM_018303.6(EXOC2):c.639C>T (p.Phe213=)not provided [RCV002214370]likely benign6617733617733Humanname
152103112CV1667384single nucleotide variantNM_018303.6(EXOC2):c.459C>T (p.Phe153=)not provided [RCV002214371]likely benign6619507619507Humanname
401918355CV2825660single nucleotide variantNM_018303.6(EXOC2):c.942G>A (p.Gly314=)not provided [RCV003430064]likely benign6598888598888Humanname
15197044CV699639single nucleotide variantNM_018303.6(EXOC2):c.999A>G (p.Glu333=)not provided [RCV000956357]benign6598095598095Humanname
401918208CV2825656single nucleotide variantNM_018303.6(EXOC2):c.2727G>A (p.Leu909=)not provided [RCV003430062]likely benign6486719486719Humanname
401918209CV2825657single nucleotide variantNM_018303.6(EXOC2):c.2448T>C (p.Ile816=)not provided [RCV003430063]likely benign6497478497478Humanname
401915654CV2825658single nucleotide variantNM_018303.6(EXOC2):c.1632C>T (p.Ser544=)not provided [RCV003428749]uncertain significance6564580564580Humanname
401915651CV2825659single nucleotide variantNM_018303.6(EXOC2):c.1374C>T (p.Leu458=)not provided [RCV003428750]likely benign6572589572589Humanname
407499904CV3438570single nucleotide variantNM_018303.6(EXOC2):c.152C>T (p.Thr51Met)not specified [RCV004622889]uncertain significance6633084633084Humanname
15172521CV710552single nucleotide variantNM_018303.6(EXOC2):c.2409G>T (p.Leu803=)not provided [RCV000972421]benign6499672499672Humanname
15151544CV735712single nucleotide variantNM_018303.6(EXOC2):c.1554C>T (p.Arg518=)not provided [RCV000901385]benign6564658564658Humanname
127261497CV1065563single nucleotide variantNM_018303.6(EXOC2):c.389G>A (p.Arg130His)Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV001387536]pathogenic|no classifications from unflagged records6629868629868Human1name
156019317CV2229989single nucleotide variantNM_018303.6(EXOC2):c.587A>G (p.Lys196Arg)not specified [RCV004105797]uncertain significance6617785617785Humanname
329356089CV2430574single nucleotide variantNM_018303.6(EXOC2):c.716C>T (p.Thr239Met)not specified [RCV004252153]uncertain significance6610124610124Humanname
401726422CV2695677single nucleotide variantNM_018303.6(EXOC2):c.934C>G (p.Leu312Val)not specified [RCV004299486]uncertain significance6598896598896Humanname
405773252CV3252537single nucleotide variantNM_018303.6(EXOC2):c.397A>C (p.Asn133His)not specified [RCV004385421]uncertain significance6629860629860Humanname
405773246CV3252538single nucleotide variantNM_018303.6(EXOC2):c.434C>T (p.Ser145Leu)not specified [RCV004385422]uncertain significance6619532619532Humanname
405773241CV3252539single nucleotide variantNM_018303.6(EXOC2):c.700G>A (p.Val234Ile)not specified [RCV004385423]uncertain significance6610140610140Humanname
407499915CV3438573single nucleotide variantNM_018303.6(EXOC2):c.533C>A (p.Thr178Asn)not specified [RCV004622892]uncertain significance6619433619433Humanname
407499918CV3438574single nucleotide variantNM_018303.6(EXOC2):c.893A>G (p.Asp298Gly)not specified [RCV004622893]uncertain significance6598937598937Humanname
597714953CV3675117single nucleotide variantNM_018303.6(EXOC2):c.668A>C (p.His223Pro)not specified [RCV004918177]uncertain significance6610172610172Humanname
597715007CV3675122single nucleotide variantNM_018303.6(EXOC2):c.341A>G (p.Tyr114Cys)not specified [RCV004918182]uncertain significance6629916629916Humanname
597715028CV3675124single nucleotide variantNM_018303.6(EXOC2):c.896A>G (p.Tyr299Cys)not specified [RCV004918184]uncertain significance6598934598934Humanname
597715038CV3675125single nucleotide variantNM_018303.6(EXOC2):c.824A>G (p.Asn275Ser)not specified [RCV004918185]uncertain significance6599144599144Humanname
597715049CV3675126single nucleotide variantNM_018303.6(EXOC2):c.417T>G (p.Ile139Met)not specified [RCV004918186]uncertain significance6629840629840Humanname
598210386CV3954761single nucleotide variantNM_018303.6(EXOC2):c.743G>A (p.Arg248Lys)not specified [RCV005338741]uncertain significance6599225599225Humanname
598210392CV3954762single nucleotide variantNM_018303.6(EXOC2):c.722A>T (p.Lys241Ile)not specified [RCV005338742]uncertain significance6610118610118Humanname
598210406CV3954764single nucleotide variantNM_018303.6(EXOC2):c.682G>A (p.Ala228Thr)not specified [RCV005338744]uncertain significance6610158610158Humanname
598210428CV3954768single nucleotide variantNM_018303.6(EXOC2):c.823A>T (p.Asn275Tyr)not specified [RCV005338747]uncertain significance6599145599145Humanname
127261496CV1065562single nucleotide variantNM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter)Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV001387535]pathogenic|no classifications from unflagged records6576766576766Human1name
127261499CV1065564single nucleotide variantNM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV001387537]pathogenic6564083564083Human1name
9687031CV171424single nucleotide variantNM_018303.6(EXOC2):c.1241G>A (p.Arg414His)Prostate cancer [RCV000149250]|not provided [RCV004691769]uncertain significance6576834576834Human2name
156397346CV2200333single nucleotide variantNM_018303.6(EXOC2):c.2771C>T (p.Thr924Ile)not specified [RCV004076665]uncertain significance6486675486675Humanname
156113008CV2228610single nucleotide variantNM_018303.6(EXOC2):c.1990C>A (p.Gln664Lys)not specified [RCV004092838]uncertain significance6555956555956Humanname
155994455CV2249189single nucleotide variantNM_018303.6(EXOC2):c.2338T>A (p.Tyr780Asn)not specified [RCV004118236]uncertain significance6532511532511Humanname
156039226CV2261192single nucleotide variantNM_018303.6(EXOC2):c.1989G>A (p.Met663Ile)not specified [RCV004128077]uncertain significance6555957555957Humanname
155965589CV2261813single nucleotide variantNM_018303.6(EXOC2):c.1274C>T (p.Ala425Val)not specified [RCV004126088]uncertain significance6576801576801Humanname
155929435CV2278111single nucleotide variantNM_018303.6(EXOC2):c.1832A>G (p.Asn611Ser)not specified [RCV004141322]uncertain significance6562803562803Humanname
155967153CV2280264single nucleotide variantNM_018303.6(EXOC2):c.1743T>A (p.Asp581Glu)not specified [RCV004140469]uncertain significance6564079564079Humanname
156185420CV2292320single nucleotide variantNM_018303.6(EXOC2):c.1750G>A (p.Val584Ile)not specified [RCV004150137]uncertain significance6564072564072Humanname
156037353CV2313487single nucleotide variantNM_018303.6(EXOC2):c.2167C>T (p.Arg723Cys)not specified [RCV004163793]uncertain significance6549246549246Humanname
156169951CV2317110single nucleotide variantNM_018303.6(EXOC2):c.2176T>G (p.Phe726Val)not specified [RCV004174590]uncertain significance6549237549237Humanname
155980051CV2336866single nucleotide variantNM_018303.6(EXOC2):c.1603G>A (p.Gly535Arg)not specified [RCV004190485]uncertain significance6564609564609Humanname
156242509CV2347004single nucleotide variantNM_018303.6(EXOC2):c.1237A>G (p.Thr413Ala)not specified [RCV004204493]uncertain significance6576838576838Humanname
155922808CV2347385single nucleotide variantNM_018303.6(EXOC2):c.1624G>A (p.Glu542Lys)not specified [RCV004207225]uncertain significance6564588564588Humanname
156084895CV2366117single nucleotide variantNM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)not specified [RCV004210151]uncertain significance6549199549199Humanname
155935495CV2371810single nucleotide variantNM_018303.6(EXOC2):c.1319C>T (p.Thr440Met)not specified [RCV004219467]uncertain significance6572644572644Humanname
156345106CV2372869single nucleotide variantNM_018303.6(EXOC2):c.1876G>A (p.Val626Met)not specified [RCV004223918]uncertain significance6556540556540Humanname
156390096CV2375902single nucleotide variantNM_018303.6(EXOC2):c.2236C>A (p.Gln746Lys)not specified [RCV004217743]uncertain significance6549177549177Humanname
155930065CV2389301single nucleotide variantNM_018303.6(EXOC2):c.1645G>A (p.Ala549Thr)not specified [RCV004235614]uncertain significance6564567564567Humanname
329377309CV2435878single nucleotide variantNM_018303.6(EXOC2):c.1753C>T (p.Arg585Cys)not specified [RCV004255111]uncertain significance6564069564069Humanname
329387637CV2446739single nucleotide variantNM_018303.6(EXOC2):c.2173A>G (p.Thr725Ala)not specified [RCV004257613]uncertain significance6549240549240Humanname
329358833CV2450731single nucleotide variantNM_018303.6(EXOC2):c.1222G>A (p.Asp408Asn)not specified [RCV004267671]uncertain significance6576853576853Humanname
329377925CV2460863single nucleotide variantNM_018303.6(EXOC2):c.1009G>A (p.Glu337Lys)not specified [RCV004271169]uncertain significance6598085598085Humanname
401722423CV2676979single nucleotide variantNM_018303.6(EXOC2):c.1302G>T (p.Gln434His)not specified [RCV004293581]uncertain significance6576773576773Humanname
401767425CV2681659single nucleotide variantNM_018303.6(EXOC2):c.2026A>G (p.Lys676Glu)not specified [RCV004294214]uncertain significance6555255555255Humanname
401776516CV2703259single nucleotide variantNM_018303.6(EXOC2):c.1175A>G (p.Tyr392Cys)not specified [RCV004315625]uncertain significance6592486592486Humanname
401763245CV2720247single nucleotide variantNM_018303.6(EXOC2):c.1756T>A (p.Cys586Ser)not specified [RCV004325580]uncertain significance6564066564066Humanname
401763778CV2725294single nucleotide variantNM_018303.6(EXOC2):c.1327T>C (p.Tyr443His)not specified [RCV004319959]uncertain significance6572636572636Humanname
401886754CV2767898single nucleotide variantNM_018303.6(EXOC2):c.1532A>T (p.His511Leu)not specified [RCV004348153]uncertain significance6564680564680Humanname
401936609CV2798557single nucleotide variantNM_018303.6(EXOC2):c.2188G>A (p.Ala730Thr)EXOC2-related disorder [RCV003414487]|not specified [RCV004621778]uncertain significance6549225549225Human1name , trait , alternate_id
405772769CV3252529single nucleotide variantNM_018303.6(EXOC2):c.1726C>A (p.Gln576Lys)not specified [RCV004385413]uncertain significance6564096564096Humanname
405772775CV3252530single nucleotide variantNM_018303.6(EXOC2):c.1882T>G (p.Ser628Ala)not specified [RCV004385414]uncertain significance6556534556534Humanname
405772781CV3252531single nucleotide variantNM_018303.6(EXOC2):c.2042T>C (p.Ile681Thr)not specified [RCV004385415]uncertain significance6555239555239Humanname
405772788CV3252532single nucleotide variantNM_018303.6(EXOC2):c.2168G>A (p.Arg723His)not specified [RCV004385416]uncertain significance6549245549245Humanname
405772798CV3252534single nucleotide variantNM_018303.6(EXOC2):c.2333G>A (p.Gly778Glu)not specified [RCV004385418]uncertain significance6532516532516Humanname
405773264CV3252535single nucleotide variantNM_018303.6(EXOC2):c.2431G>A (p.Ala811Thr)not specified [RCV004385419]uncertain significance6499650499650Humanname
405773258CV3252536single nucleotide variantNM_018303.6(EXOC2):c.2471T>C (p.Val824Ala)not specified [RCV004385420]uncertain significance6497455497455Humanname
407499893CV3438567single nucleotide variantNM_018303.6(EXOC2):c.1553G>A (p.Arg518His)not specified [RCV004622886]uncertain significance6564659564659Humanname
407499900CV3438569single nucleotide variantNM_018303.6(EXOC2):c.2551G>A (p.Ala851Thr)not specified [RCV004622888]uncertain significance6497375497375Humanname
407499908CV3438571single nucleotide variantNM_018303.6(EXOC2):c.1706A>G (p.Asn569Ser)not specified [RCV004622890]uncertain significance6564116564116Humanname
407499911CV3438572single nucleotide variantNM_018303.6(EXOC2):c.2093G>A (p.Ser698Asn)not specified [RCV004622891]uncertain significance6553882553882Humanname
408394096CV3526346single nucleotide variantNM_018303.6(EXOC2):c.1049T>C (p.Leu350Ser)Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV004771778]uncertain significance6598045598045Human1name
597714916CV3675113single nucleotide variantNM_018303.6(EXOC2):c.2676T>G (p.Asp892Glu)not specified [RCV004918173]uncertain significance6488984488984Humanname
597714925CV3675114single nucleotide variantNM_018303.6(EXOC2):c.2468G>A (p.Arg823Gln)not specified [RCV004918174]uncertain significance6497458497458Humanname
597714933CV3675115single nucleotide variantNM_018303.6(EXOC2):c.1673C>A (p.Thr558Asn)not specified [RCV004918175]uncertain significance6564149564149Humanname
597714942CV3675116single nucleotide variantNM_018303.6(EXOC2):c.1091A>G (p.His364Arg)not specified [RCV004918176]uncertain significance6592570592570Humanname
597714963CV3675118single nucleotide variantNM_018303.6(EXOC2):c.2260G>C (p.Glu754Gln)not specified [RCV004918178]uncertain significance6532589532589Humanname
597714974CV3675119single nucleotide variantNM_018303.6(EXOC2):c.2749G>A (p.Ala917Thr)not specified [RCV004918179]uncertain significance6486697486697Humanname
597714985CV3675120single nucleotide variantNM_018303.6(EXOC2):c.2363A>G (p.Asp788Gly)not specified [RCV004918180]uncertain significance6532486532486Humanname
597714996CV3675121single nucleotide variantNM_018303.6(EXOC2):c.2107T>C (p.Phe703Leu)not specified [RCV004918181]uncertain significance6553868553868Humanname
598126513CV3881962single nucleotide variantNM_018303.6(EXOC2):c.1205T>G (p.Leu402Arg)not provided [RCV005233514]uncertain significance6576870576870Humanname
598210367CV3954758single nucleotide variantNM_018303.6(EXOC2):c.1050A>C (p.Leu350Phe)not specified [RCV005338738]uncertain significance6598044598044Humanname
598210374CV3954759single nucleotide variantNM_018303.6(EXOC2):c.1982A>G (p.Asn661Ser)not specified [RCV005338739]uncertain significance6555964555964Humanname
598210400CV3954763single nucleotide variantNM_018303.6(EXOC2):c.1763T>C (p.Met588Thr)not specified [RCV005338743]uncertain significance6564059564059Humanname
598210415CV3954765single nucleotide variantNM_018303.6(EXOC2):c.1091A>C (p.His364Pro)not specified [RCV005338745]uncertain significance6592570592570Humanname
598210422CV3954766single nucleotide variantNM_018303.6(EXOC2):c.1352T>G (p.Phe451Cys)not specified [RCV005338746]uncertain significance6572611572611Humanname
598194667CV3954767single nucleotide variantNM_018303.6(EXOC2):c.1651G>A (p.Ala551Thr)not specified [RCV005335436]uncertain significance6564561564561Humanname
598210435CV3954769single nucleotide variantNM_018303.6(EXOC2):c.1264A>T (p.Ser422Cys)not specified [RCV005338748]uncertain significance6576811576811Humanname
15176342CV722081single nucleotide variantNM_018303.6(EXOC2):c.1759G>A (p.Val587Ile)not provided [RCV000884562]benign6564063564063Humanname
153301068CV1688911deletionNM_018303.6(EXOC2):c.-43-18972_-43-18956delNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV002266639]uncertain significance6656817656833Human1name