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


75 records found for search term Atxn1l
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156075781CV2331760single nucleotide variantNM_001137675.4(ATXN1L):c.31T>C (p.Cys11Arg)not specified [RCV004184384]uncertain significance167184977171849771Humanname
405678441CV3294094single nucleotide variantNM_001137675.4(ATXN1L):c.61G>A (p.Val21Met)not specified [RCV004421136]uncertain significance167184980171849801Humanname
407524301CV3489941single nucleotide variantNM_001137675.4(ATXN1L):c.89C>T (p.Thr30Ile)not specified [RCV004678376]uncertain significance167184982971849829Humanname
597790503CV3632832single nucleotide variantNM_001137675.4(ATXN1L):c.64A>T (p.Thr22Ser)not specified [RCV004876365]uncertain significance167184980471849804Humanname
598216639CV3928788single nucleotide variantNM_001137675.4(ATXN1L):c.70G>A (p.Glu24Lys)not specified [RCV005292909]uncertain significance167184981071849810Humanname
598238417CV3928819single nucleotide variantNM_001137675.4(ATXN1L):c.37C>T (p.Pro13Ser)not specified [RCV005296410]uncertain significance167184977771849777Humanname
156051077CV2237910single nucleotide variantNM_001137675.4(ATXN1L):c.259G>A (p.Val87Met)not specified [RCV004109136]uncertain significance167184999971849999Humanname
401770404CV2678659single nucleotide variantNM_001137675.4(ATXN1L):c.191G>T (p.Gly64Val)not specified [RCV004294699]uncertain significance167184993171849931Humanname
407524252CV3489921single nucleotide variantNM_001137675.4(ATXN1L):c.160C>A (p.Gln54Lys)not specified [RCV004678357]uncertain significance167184990071849900Humanname
155921272CV2207142single nucleotide variantNM_001137675.4(ATXN1L):c.659T>C (p.Leu220Pro)not specified [RCV004087883]uncertain significance167185039971850399Humanname
156282047CV2220694single nucleotide variantNM_001137675.4(ATXN1L):c.545C>A (p.Ala182Asp)not specified [RCV004097868]uncertain significance167185028571850285Humanname
156157272CV2235243single nucleotide variantNM_001137675.4(ATXN1L):c.749C>A (p.Ala250Asp)not specified [RCV004107290]uncertain significance167185048971850489Humanname
155944976CV2237912single nucleotide variantNM_001137675.4(ATXN1L):c.776G>T (p.Ser259Ile)not specified [RCV004109138]uncertain significance167185051671850516Humanname
156193806CV2251652single nucleotide variantNM_001137675.4(ATXN1L):c.358C>T (p.Pro120Ser)not specified [RCV004119672]uncertain significance167185009871850098Humanname
155963160CV2254521single nucleotide variantNM_001137675.4(ATXN1L):c.376C>A (p.Pro126Thr)not specified [RCV004123881]uncertain significance167185011671850116Humanname
156284303CV2291896single nucleotide variantNM_001137675.4(ATXN1L):c.320C>T (p.Pro107Leu)not specified [RCV004158418]uncertain significance167185006071850060Humanname
156305848CV2338937single nucleotide variantNM_001137675.4(ATXN1L):c.787C>G (p.Leu263Val)not specified [RCV004184527]uncertain significance167185052771850527Humanname
156086032CV2340564single nucleotide variantNM_001137675.4(ATXN1L):c.739C>A (p.Pro247Thr)not specified [RCV004197277]uncertain significance167185047971850479Humanname
156392359CV2386246single nucleotide variantNM_001137675.4(ATXN1L):c.326C>A (p.Thr109Lys)not specified [RCV004228599]uncertain significance167185006671850066Humanname
329370592CV2461773single nucleotide variantNM_001137675.4(ATXN1L):c.590C>T (p.Ser197Leu)not specified [RCV004269915]uncertain significance167185033071850330Humanname
401743616CV2684746single nucleotide variantNM_001137675.4(ATXN1L):c.866C>A (p.Ser289Tyr)not specified [RCV004293834]uncertain significance167185060671850606Humanname
401755998CV2686214single nucleotide variantNM_001137675.4(ATXN1L):c.774G>C (p.Glu258Asp)not specified [RCV004297309]uncertain significance167185051471850514Humanname
401758642CV2694204single nucleotide variantNM_001137675.4(ATXN1L):c.685A>G (p.Ile229Val)not specified [RCV004302623]uncertain significance167185042571850425Humanname
401773352CV2698183single nucleotide variantNM_001137675.4(ATXN1L):c.699G>A (p.Met233Ile)not specified [RCV004304752]uncertain significance167185043971850439Humanname
401763899CV2700260single nucleotide variantNM_001137675.4(ATXN1L):c.503C>T (p.Thr168Ile)not specified [RCV004310926]uncertain significance167185024371850243Humanname
401771272CV2722774single nucleotide variantNM_001137675.4(ATXN1L):c.958G>A (p.Val320Ile)not specified [RCV004325202]uncertain significance167185069871850698Humanname
405678431CV3294092single nucleotide variantNM_001137675.4(ATXN1L):c.325A>G (p.Thr109Ala)not specified [RCV004421134]uncertain significance167185006571850065Humanname
405678435CV3294093single nucleotide variantNM_001137675.4(ATXN1L):c.422G>C (p.Gly141Ala)not specified [RCV004421135]uncertain significance167185016271850162Humanname
405678450CV3294096single nucleotide variantNM_001137675.4(ATXN1L):c.986G>A (p.Gly329Glu)not specified [RCV004421138]uncertain significance167185072671850726Humanname
407524100CV3489860single nucleotide variantNM_001137675.4(ATXN1L):c.784G>C (p.Ala262Pro)not specified [RCV004678299]uncertain significance167185052471850524Humanname
407524230CV3489912single nucleotide variantNM_001137675.4(ATXN1L):c.371A>G (p.Tyr124Cys)not specified [RCV004678348]uncertain significance167185011171850111Humanname
407524278CV3489932single nucleotide variantNM_001137675.4(ATXN1L):c.764C>T (p.Thr255Ile)not specified [RCV004678368]uncertain significance167185050471850504Humanname
597720899CV3632792single nucleotide variantNM_001137675.4(ATXN1L):c.983G>A (p.Arg328Gln)not specified [RCV004887872]uncertain significance167185072371850723Humanname
597790499CV3632823single nucleotide variantNM_001137675.4(ATXN1L):c.743C>G (p.Ala248Gly)not specified [RCV004876364]uncertain significance167185048371850483Humanname
597720986CV3632842single nucleotide variantNM_001137675.4(ATXN1L):c.476T>G (p.Leu159Arg)not specified [RCV004887880]uncertain significance167185021671850216Humanname
597721035CV3632863single nucleotide variantNM_001137675.4(ATXN1L):c.830G>A (p.Arg277Gln)not specified [RCV004887884]uncertain significance167185057071850570Humanname
598238485CV3924958single nucleotide variantNM_001137675.4(ATXN1L):c.757G>A (p.Val253Ile)not specified [RCV005296423]uncertain significance167185049771850497Humanname
598216862CV3924969single nucleotide variantNM_001137675.4(ATXN1L):c.571G>A (p.Ala191Thr)not specified [RCV005292941]uncertain significance167185031171850311Humanname
598216658CV3928799single nucleotide variantNM_001137675.4(ATXN1L):c.440C>A (p.Pro147His)not specified [RCV005292912]uncertain significance167185018071850180Humanname
156139791CV2212115single nucleotide variantNM_001137675.4(ATXN1L):c.1046A>G (p.Tyr349Cys)not specified [RCV004089017]uncertain significance167185078671850786Humanname
156385678CV2228001single nucleotide variantNM_001137675.4(ATXN1L):c.1795A>G (p.Ser599Gly)not specified [RCV004096245]likely benign167185153571851535Humanname
155927577CV2230811single nucleotide variantNM_001137675.4(ATXN1L):c.1952C>T (p.Pro651Leu)not specified [RCV004092025]uncertain significance167185169271851692Humanname
155911926CV2235459single nucleotide variantNM_001137675.4(ATXN1L):c.1055T>G (p.Val352Gly)not specified [RCV004109507]uncertain significance167185079571850795Humanname
156239853CV2235980single nucleotide variantNM_001137675.4(ATXN1L):c.1217A>G (p.His406Arg)not specified [RCV004113857]uncertain significance167185095771850957Humanname
155998393CV2260973single nucleotide variantNM_001137675.4(ATXN1L):c.2005C>T (p.Arg669Cys)not specified [RCV004125852]uncertain significance167185174571851745Humanname
155964386CV2282835single nucleotide variantNM_001137675.4(ATXN1L):c.1622C>G (p.Pro541Arg)not specified [RCV004143495]uncertain significance167185136271851362Humanname
156284508CV2317549single nucleotide variantNM_001137675.4(ATXN1L):c.1895C>T (p.Ser632Phe)not specified [RCV004172504]uncertain significance167185163571851635Humanname
155999290CV2373398single nucleotide variantNM_001137675.4(ATXN1L):c.1531G>A (p.Val511Met)not specified [RCV004220100]uncertain significance167185127171851271Humanname
155996179CV2398505single nucleotide variantNM_001137675.4(ATXN1L):c.1886G>T (p.Gly629Val)not specified [RCV004237828]uncertain significance167185162671851626Humanname
329368054CV2427676single nucleotide variantNM_001137675.4(ATXN1L):c.1330G>A (p.Val444Met)not specified [RCV004250299]likely benign167185107071851070Humanname
329390804CV2455493single nucleotide variantNM_001137675.4(ATXN1L):c.1428G>C (p.Gln476His)not specified [RCV004276759]uncertain significance167185116871851168Humanname
401759857CV2707170single nucleotide variantNM_001137675.4(ATXN1L):c.1483C>T (p.Arg495Cys)not specified [RCV004315534]uncertain significance167185122371851223Humanname
401748691CV2713268single nucleotide variantNM_001137675.4(ATXN1L):c.1800G>C (p.Gln600His)not specified [RCV004316794]uncertain significance167185154071851540Humanname
401762432CV2723439single nucleotide variantNM_001137675.4(ATXN1L):c.1949C>T (p.Ala650Val)not specified [RCV004323514]uncertain significance167185168971851689Humanname
405678385CV3294082single nucleotide variantNM_001137675.4(ATXN1L):c.1084C>T (p.Pro362Ser)not specified [RCV004421124]uncertain significance167185082471850824Humanname
405678392CV3294083single nucleotide variantNM_001137675.4(ATXN1L):c.1157T>A (p.Leu386Gln)not specified [RCV004421125]uncertain significance167185089771850897Humanname
405678396CV3294084single nucleotide variantNM_001137675.4(ATXN1L):c.1178G>A (p.Arg393His)not specified [RCV004421126]uncertain significance167185091871850918Humanname
405678404CV3294085single nucleotide variantNM_001137675.4(ATXN1L):c.1241T>C (p.Val414Ala)not specified [RCV004421127]uncertain significance167185098171850981Humanname
405678413CV3294087single nucleotide variantNM_001137675.4(ATXN1L):c.1354G>C (p.Asp452His)not specified [RCV004421129]uncertain significance167185109471851094Humanname
405678416CV3294088single nucleotide variantNM_001137675.4(ATXN1L):c.1676G>A (p.Arg559Gln)not specified [RCV004421130]uncertain significance167185141671851416Humanname
405678419CV3294089single nucleotide variantNM_001137675.4(ATXN1L):c.1823C>G (p.Pro608Arg)not specified [RCV004421131]uncertain significance167185156371851563Humanname
405678423CV3294090single nucleotide variantNM_001137675.4(ATXN1L):c.1897C>G (p.Arg633Gly)not specified [RCV004421132]uncertain significance167185163771851637Humanname
405678428CV3294091single nucleotide variantNM_001137675.4(ATXN1L):c.2051G>A (p.Arg684His)not specified [RCV004421133]uncertain significance167185179171851791Humanname
407524072CV3489845single nucleotide variantNM_001137675.4(ATXN1L):c.2024A>G (p.Gln675Arg)not specified [RCV004678288]uncertain significance167185176471851764Humanname
407465317CV3489852single nucleotide variantNM_001137675.4(ATXN1L):c.1526C>T (p.Thr509Met)not specified [RCV004688738]uncertain significance167185126671851266Humanname
407524129CV3489871single nucleotide variantNM_001137675.4(ATXN1L):c.1015C>T (p.Arg339Trp)not specified [RCV004678309]uncertain significance167185075571850755Humanname
407524162CV3489884single nucleotide variantNM_001137675.4(ATXN1L):c.1237A>G (p.Met413Val)not specified [RCV004678321]uncertain significance167185097771850977Humanname
407524207CV3489903single nucleotide variantNM_001137675.4(ATXN1L):c.1060G>C (p.Ala354Pro)not specified [RCV004678339]uncertain significance167185080071850800Humanname
597790496CV3632808single nucleotide variantNM_001137675.4(ATXN1L):c.1306A>G (p.Ile436Val)not specified [RCV004876363]uncertain significance167185104671851046Humanname
597720963CV3632815single nucleotide variantNM_001137675.4(ATXN1L):c.1340G>C (p.Arg447Thr)not specified [RCV004887878]uncertain significance167185108071851080Humanname
597790547CV3632853single nucleotide variantNM_001137675.4(ATXN1L):c.1732A>C (p.Ile578Leu)not specified [RCV004876376]uncertain significance167185147271851472Humanname
598216913CV3924979single nucleotide variantNM_001137675.4(ATXN1L):c.1120G>T (p.Gly374Cys)not specified [RCV005292948]uncertain significance167185086071850860Humanname
598238390CV3928810single nucleotide variantNM_001137675.4(ATXN1L):c.1492G>A (p.Glu498Lys)not specified [RCV005296405]uncertain significance167185123271851232Humanname
598238434CV3928828single nucleotide variantNM_001137675.4(ATXN1L):c.1130G>A (p.Arg377Gln)not specified [RCV005296413]uncertain significance167185087071850870Humanname
598238467CV3928839single nucleotide variantNM_001137675.4(ATXN1L):c.1181G>A (p.Gly394Glu)not specified [RCV005296419]uncertain significance167185092171850921Humanname