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58 records found for search term Gca
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405767447CV3261749single nucleotide variantNM_012198.5(GCA):c.334A>C (p.Asn112His)not specified [RCV004395328]uncertain significance2162356785162356785Humanname
13827728CV552399complex46,XX,der(X)(p22.13,p22.13)dn.seq[GRCh37/hg19]der(X)(Xpter->Xp22.13(+)(18074005)::GCA...CAC{100}::p22.13(-)(18532312),p22.13(-)(17793009)::p22.13(+)(18248956)->Xqter)dnHypoxic Ischemic Encephalopathy [RCV000714960]uncertain significanceHumanname
401725025CV2715069single nucleotide variantNM_014291.4(GCAT):c.197-21A>Tnot specified [RCV004322374]uncertain significance223781000637810006Humanname
401780790CV2727864single nucleotide variantNM_014291.4(GCAT):c.197-44G>Tnot specified [RCV004323881]uncertain significance223780998337809983Humanname
401768365CV2735279single nucleotide variantNM_014291.4(GCAT):c.197-66T>Cnot specified [RCV004333950]uncertain significance223780996137809961Humanname
407512147CV3432758single nucleotide variantNM_014291.4(GCAT):c.197-10T>Cnot specified [RCV004626696]uncertain significance223781001737810017Humanname
597755320CV3677917single nucleotide variantNM_014291.4(GCAT):c.197-26T>Gnot specified [RCV004924590]uncertain significance223781000137810001Humanname
126753283CV993059insertionNM_014334.4(FRRS1L):c.-47_-45CCCGCG[2]GCACCC[1]Developmental and epileptic encephalopathy, 37 [RCV001297874]uncertain significance9109167182109167183Human1name
155917341CV2202339single nucleotide variantNM_014291.4(GCAT):c.8C>T (p.Pro3Leu)not specified [RCV004078263]uncertain significance223780797537807975Humanname
156182112CV2327873single nucleotide variantNM_014291.4(GCAT):c.7C>T (p.Pro3Ser)not specified [RCV004179201]uncertain significance223780797437807974Humanname
597755318CV3677916single nucleotide variantNM_014291.4(GCAT):c.49G>T (p.Gly17Cys)not specified [RCV004924589]uncertain significance223780801637808016Humanname
401861295CV2779602single nucleotide variantNM_014291.4(GCAT):c.284T>C (p.Phe95Ser)not specified [RCV004351310]uncertain significance223781011437810114Humanname
405767465CV3261752single nucleotide variantNM_014291.4(GCAT):c.179T>C (p.Val60Ala)not specified [RCV004395331]uncertain significance223780814637808146Humanname
405767471CV3261753single nucleotide variantNM_014291.4(GCAT):c.194G>A (p.Gly65Glu)not specified [RCV004395332]uncertain significance223780816137808161Humanname
405767481CV3261755single nucleotide variantNM_014291.4(GCAT):c.200T>G (p.Ile67Ser)not specified [RCV004395334]uncertain significance223781003037810030Humanname
405767486CV3261756single nucleotide variantNM_014291.4(GCAT):c.283T>A (p.Phe95Ile)not specified [RCV004395335]uncertain significance223781011337810113Humanname
407512141CV3432756single nucleotide variantNM_014291.4(GCAT):c.270G>C (p.Gln90His)not specified [RCV004626694]uncertain significance223781010037810100Humanname
597755310CV3677914single nucleotide variantNM_014291.4(GCAT):c.157C>G (p.Arg53Gly)not specified [RCV004924587]uncertain significance223780812437808124Humanname
156248068CV2203036single nucleotide variantNM_014291.4(GCAT):c.704C>A (p.Ala235Asp)not specified [RCV004069288]uncertain significance223781525337815253Humanname
155918440CV2205863single nucleotide variantNM_014291.4(GCAT):c.871C>G (p.Pro291Ala)not specified [RCV004076256]uncertain significance223781571937815719Humanname
156379095CV2207881single nucleotide variantNM_014291.4(GCAT):c.543G>A (p.Met181Ile)not specified [RCV004084309]uncertain significance223781357637813576Humanname
155961365CV2249706single nucleotide variantNM_014291.4(GCAT):c.514C>T (p.His172Tyr)not specified [RCV004120688]uncertain significance223781354737813547Humanname
156216117CV2253744single nucleotide variantNM_014291.4(GCAT):c.401G>T (p.Cys134Phe)not specified [RCV004127455]uncertain significance223781296037812960Humanname
156281516CV2321881single nucleotide variantNM_014291.4(GCAT):c.538G>A (p.Asp180Asn)not specified [RCV004179857]uncertain significance223781357137813571Humanname
156197846CV2357742single nucleotide variantNM_014291.4(GCAT):c.931G>T (p.Asp311Tyr)not specified [RCV004205036]uncertain significance223781577937815779Humanname
156150883CV2369106single nucleotide variantNM_014291.4(GCAT):c.857G>A (p.Arg286Gln)not specified [RCV004214945]uncertain significance223781570537815705Humanname
329353807CV2439715single nucleotide variantNM_014291.4(GCAT):c.907G>A (p.Val303Ile)not specified [RCV004255726]uncertain significance223781575537815755Humanname
329377222CV2462436single nucleotide variantNM_014291.4(GCAT):c.902C>G (p.Ala301Gly)not specified [RCV004276628]uncertain significance223781575037815750Humanname
401720359CV2676484single nucleotide variantNM_014291.4(GCAT):c.824C>T (p.Thr275Met)not specified [RCV004288285]uncertain significance223781567237815672Humanname
401754672CV2682265single nucleotide variantNM_014291.4(GCAT):c.817G>T (p.Gly273Cys)not specified [RCV004297220]uncertain significance223781566537815665Humanname
401739672CV2684138single nucleotide variantNM_014291.4(GCAT):c.633C>G (p.Ile211Met)not specified [RCV004288814]uncertain significance223781518237815182Humanname
401855348CV2757260single nucleotide variantNM_014291.4(GCAT):c.499C>T (p.Arg167Trp)not specified [RCV004338852]uncertain significance223781353237813532Humanname
401895566CV2777897single nucleotide variantNM_014291.4(GCAT):c.524G>T (p.Arg175Leu)not specified [RCV004347866]uncertain significance223781355737813557Humanname
405767454CV3261750single nucleotide variantNM_014291.4(GCAT):c.959T>G (p.Val320Gly)not specified [RCV004395329]uncertain significance223781580737815807Humanname
405767493CV3261757single nucleotide variantNM_014291.4(GCAT):c.475C>T (p.His159Tyr)not specified [RCV004395336]uncertain significance223781350837813508Humanname
405767497CV3261758single nucleotide variantNM_014291.4(GCAT):c.500G>A (p.Arg167Gln)not specified [RCV004395337]uncertain significance223781353337813533Humanname
405767505CV3261759single nucleotide variantNM_014291.4(GCAT):c.547G>A (p.Asp183Asn)not specified [RCV004395338]uncertain significance223781358037813580Humanname
405767510CV3261760single nucleotide variantNM_014291.4(GCAT):c.712T>A (p.Phe238Ile)not specified [RCV004395339]uncertain significance223781526137815261Humanname
405767516CV3261761single nucleotide variantNM_014291.4(GCAT):c.767T>C (p.Val256Ala)not specified [RCV004395340]uncertain significance223781545337815453Humanname
405767522CV3261762single nucleotide variantNM_014291.4(GCAT):c.779A>C (p.Asn260Thr)not specified [RCV004395341]uncertain significance223781546537815465Humanname
405767528CV3261763single nucleotide variantNM_014291.4(GCAT):c.790G>T (p.Gly264Trp)not specified [RCV004395342]uncertain significance223781547637815476Humanname
407512138CV3432755single nucleotide variantNM_014291.4(GCAT):c.523C>T (p.Arg175Cys)not specified [RCV004626693]uncertain significance223781355637813556Humanname
407512144CV3432757single nucleotide variantNM_014291.4(GCAT):c.400T>G (p.Cys134Gly)not specified [RCV004626695]uncertain significance223781295937812959Humanname
597755302CV3677912single nucleotide variantNM_014291.4(GCAT):c.361C>T (p.Arg121Cys)not specified [RCV004924585]uncertain significance223781292037812920Humanname
597755306CV3677913single nucleotide variantNM_014291.4(GCAT):c.926C>T (p.Ala309Val)not specified [RCV004924586]uncertain significance223781577437815774Humanname
597755314CV3677915single nucleotide variantNM_014291.4(GCAT):c.568G>A (p.Glu190Lys)not specified [RCV004924588]uncertain significance223781360137813601Humanname
598218100CV3970416single nucleotide variantNM_014291.4(GCAT):c.805G>A (p.Gly269Arg)not specified [RCV005340110]uncertain significance223781549137815491Humanname
598218108CV3970417single nucleotide variantNM_014291.4(GCAT):c.541A>G (p.Met181Val)not specified [RCV005340111]uncertain significance223781357437813574Humanname
598218124CV3970419single nucleotide variantNM_014291.4(GCAT):c.809C>T (p.Ala270Val)not specified [RCV005340113]uncertain significance223781549537815495Humanname
156134026CV2195998single nucleotide variantNM_014291.4(GCAT):c.1082G>A (p.Arg361His)not specified [RCV004072247]uncertain significance223781629537816295Humanname
156237509CV2224214single nucleotide variantNM_014291.4(GCAT):c.1160G>A (p.Arg387Gln)not specified [RCV004096055]uncertain significance223781661837816618Humanname
156337846CV2224863single nucleotide variantNM_014291.4(GCAT):c.1070G>A (p.Arg357Gln)not specified [RCV004092955]uncertain significance223781628337816283Humanname
401898054CV2780122single nucleotide variantNM_014291.4(GCAT):c.1207C>T (p.Arg403Cys)not specified [RCV004355780]uncertain significance223781666537816665Humanname
405767460CV3261751single nucleotide variantNM_014291.4(GCAT):c.1107A>T (p.Arg369Ser)not specified [RCV004395330]uncertain significance223781632037816320Humanname
407512136CV3432754single nucleotide variantNM_014291.4(GCAT):c.1238G>A (p.Arg413Gln)not specified [RCV004626692]uncertain significance223781669637816696Humanname
598218092CV3970414single nucleotide variantNM_014291.4(GCAT):c.1156G>A (p.Ala386Thr)not specified [RCV005340109]uncertain significance223781661437816614Humanname
598159010CV3970415single nucleotide variantNM_014291.4(GCAT):c.1023C>G (p.Ile341Met)not specified [RCV005328179]uncertain significance223781623637816236Humanname
598218116CV3970418single nucleotide variantNM_014291.4(GCAT):c.1121T>A (p.Ile374Asn)not specified [RCV005340112]uncertain significance223781657937816579Humanname