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


548 records found for search term Gria3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9687294CV177756duplicationNM_000828.4(GRIA3):c.-2G=Inborn genetic diseases [RCV002312678]|Syndromic X-linked intellectual disability 94 [RCV001701690]|not provided [RCV000711850]|not specified [RCV000153339]benignX123184533123184534Human2name
597884734CV3799652single nucleotide variantNM_007325.5(GRIA3):c.-1C>Tnot provided [RCV005150319]uncertain significanceX123184535123184535Humanname
150484113CV1247070single nucleotide variantNM_007325.5(GRIA3):c.-17T>Cnot provided [RCV001673566]benignX123184519123184519Humanname
150514451CV1228226single nucleotide variantNM_007325.5(GRIA3):c.*2+26T>Gnot provided [RCV001638504]benignX123483072123483072Humanname
150486895CV1262650deletionNM_007325.5(GRIA3):c.*2+80delnot provided [RCV001687047]benignX123483112123483112Humanname
150532362CV1299638single nucleotide variantNM_007325.5(GRIA3):c.508+4A>Cnot provided [RCV001752564]uncertain significanceX123253546123253546Humanname
151804156CV1362766single nucleotide variantNM_007325.5(GRIA3):c.696+5G>AInborn genetic diseases [RCV002370682]|not provided [RCV002028371]uncertain significanceX123326218123326218Human1name
151792826CV1399514single nucleotide variantNM_007325.5(GRIA3):c.109+1G>Anot provided [RCV001898340]uncertain significanceX123184645123184645Humanname
151799341CV1430644single nucleotide variantNM_007325.5(GRIA3):c.696+4C>Tnot provided [RCV001877232]uncertain significanceX123326217123326217Humanname
152159843CV1522728single nucleotide variantNM_007325.5(GRIA3):c.268+8G>Tnot provided [RCV002140730]likely benignX123185998123185998Humanname
152087240CV1574039duplicationNM_007325.5(GRIA3):c.509-8dupnot provided [RCV002150101]likely benignX123326016123326017Humanname
153347914CV1694963single nucleotide variantNM_007325.5(GRIA3):c.913-5T>Gnot provided [RCV002278893]uncertain significanceX123398631123398631Humanname
156388170CV1995974single nucleotide variantNM_007325.5(GRIA3):c.913-6T>Anot provided [RCV002654147]likely benignX123398630123398630Humanname
156154327CV2049228single nucleotide variantNM_007325.5(GRIA3):c.696+4C>Anot provided [RCV002801399]uncertain significanceX123326217123326217Humanname
329394836CV2472953single nucleotide variantNM_007325.5(GRIA3):c.109+5G>Anot provided [RCV003218936]uncertain significanceX123184649123184649Humanname
402515156CV2856631single nucleotide variantNM_007325.5(GRIA3):c.913-8C>Tnot provided [RCV003575427]likely benignX123398628123398628Humanname
405008630CV2926921single nucleotide variantNM_007325.5(GRIA3):c.109+6C>Tnot provided [RCV003576542]uncertain significanceX123184650123184650Humanname
408385816CV3520365single nucleotide variantNM_007325.5(GRIA3):c.268+5G>Anot provided [RCV004760186]uncertain significanceX123185995123185995Humanname
597887781CV3787625single nucleotide variantNM_007325.5(GRIA3):c.697-4G>Tnot provided [RCV005125191]likely benignX123354906123354906Humanname
150514373CV1211975single nucleotide variantNM_007325.5(GRIA3):c.*2+311C>Tnot provided [RCV001599044]benignX123483357123483357Humanname
150499638CV1224625single nucleotide variantNM_007325.5(GRIA3):c.751-42A>Gnot provided [RCV001620456]benignX123394926123394926Humanname
150457032CV1235284single nucleotide variantNM_007325.5(GRIA3):c.696+35T>Cnot provided [RCV001648700]benignX123326248123326248Humanname
150485498CV1250239single nucleotide variantNM_007325.5(GRIA3):c.268+75T>Cnot provided [RCV001673852]benignX123186065123186065Humanname
150491016CV1251122single nucleotide variantNM_007325.5(GRIA3):c.697-29G>Anot provided [RCV001674790]benignX123354881123354881Humanname
150489126CV1265363single nucleotide variantNM_007325.5(GRIA3):c.913-15A>Gnot provided [RCV001687399]benignX123398621123398621Humanname
150439337CV1275150single nucleotide variantNM_007325.5(GRIA3):c.751-16T>CSyndromic X-linked intellectual disability 94 [RCV001703315]|not provided [RCV002077169]benignX123394952123394952Human1name
150482316CV1279954single nucleotide variantNM_007325.5(GRIA3):c.1185+9C>Anot provided [RCV001715003]benignX123403107123403107Humanname
150541961CV1295556single nucleotide variantNM_007325.5(GRIA3):c.1185+5G>Anot provided [RCV001768488]uncertain significanceX123403103123403103Humanname
151233551CV1317124single nucleotide variantNM_007325.5(GRIA3):c.110-43T>Anot provided [RCV001786945]likely benignX123185789123185789Humanname
8659660CV134614single nucleotide variantNM_007325.5(GRIA3):c.1501-8T>ASyndromic X-linked intellectual disability 94 [RCV005229918]|not provided [RCV000514141]|not specified [RCV000117157]benign|likely benignX123417394123417394Human1name
152058684CV1535948single nucleotide variantNM_007325.5(GRIA3):c.269-19T>Cnot provided [RCV002146529]likely benignX123253284123253284Humanname
152087191CV1578312single nucleotide variantNM_007325.5(GRIA3):c.509-20G>Cnot provided [RCV002171332]likely benignX123326006123326006Humanname
152079914CV1649831single nucleotide variantNM_007325.5(GRIA3):c.508+15C>Tnot provided [RCV002092711]likely benignX123253557123253557Humanname
152052973CV1665126single nucleotide variantNM_007325.5(GRIA3):c.1293+7G>Cnot provided [RCV002089388]likely benignX123403526123403526Humanname
155746559CV1835206single nucleotide variantNM_007325.5(GRIA3):c.1878-3T>CInborn genetic diseases [RCV002415227]|not provided [RCV002473379]uncertain significanceX123427938123427938Human1name
156171171CV1956277single nucleotide variantNM_007325.5(GRIA3):c.2076+3A>Gnot provided [RCV002573815]uncertain significanceX123428142123428142Humanname
156293420CV1958629single nucleotide variantNM_007325.5(GRIA3):c.110-12C>Gnot provided [RCV002577922]benignX123185820123185820Humanname
156406246CV1963534single nucleotide variantNM_007325.5(GRIA3):c.912+14G>Anot provided [RCV002585840]likely benignX123395143123395143Humanname
156273018CV2004251single nucleotide variantNM_007325.5(GRIA3):c.109+11G>Cnot provided [RCV002646595]likely benignX123184655123184655Humanname
156099592CV2009669single nucleotide variantNM_007325.5(GRIA3):c.109+20C>Tnot provided [RCV002706617]likely benignX123184664123184664Humanname
156173371CV2016260single nucleotide variantNM_007325.5(GRIA3):c.110-17G>Anot provided [RCV002710550]likely benignX123185815123185815Humanname
156234466CV2056214single nucleotide variantNM_007325.5(GRIA3):c.508+17G>Anot provided [RCV002791120]likely benignX123253559123253559Humanname
156031842CV2059179single nucleotide variantNM_007325.5(GRIA3):c.2076+7G>Anot provided [RCV002796085]likely benignX123428146123428146Humanname
155942634CV2068358single nucleotide variantNM_007325.5(GRIA3):c.696+12A>Gnot provided [RCV002839514]likely benignX123326225123326225Humanname
155923685CV2073819single nucleotide variantNM_007325.5(GRIA3):c.751-11T>Cnot provided [RCV002838431]likely benignX123394957123394957Humanname
156002536CV2103420single nucleotide variantNM_007325.5(GRIA3):c.109+11G>Anot provided [RCV002908703]likely benignX123184655123184655Humanname
156040167CV2143409single nucleotide variantNM_007325.5(GRIA3):c.1294-3A>Cnot provided [RCV002999487]uncertain significanceX123404705123404705Humanname
156023514CV2145468single nucleotide variantNM_007325.5(GRIA3):c.912+17T>Cnot provided [RCV003018344]likely benignX123395146123395146Humanname
156193111CV2162304single nucleotide variantNM_007325.5(GRIA3):c.697-18T>Cnot provided [RCV003041714]likely benignX123354892123354892Humanname
156074686CV2173410single nucleotide variantNM_007325.5(GRIA3):c.1293+6T>Cnot provided [RCV003053826]uncertain significanceX123403525123403525Humanname
156243984CV2173564single nucleotide variantNM_007325.5(GRIA3):c.110-12C>Tnot provided [RCV003043547]likely benignX123185820123185820Humanname
402496812CV2875409single nucleotide variantNM_007325.5(GRIA3):c.1080+6G>Anot provided [RCV003545500]uncertain significanceX123398809123398809Humanname
404982145CV3121406single nucleotide variantNM_007325.5(GRIA3):c.2077-8T>Cnot provided [RCV003826205]likely benignX123464857123464857Humanname
405020373CV3139140single nucleotide variantNM_007325.5(GRIA3):c.269-20T>Cnot provided [RCV003829782]likely benignX123253283123253283Humanname
405138109CV3155047duplicationNM_007325.5(GRIA3):c.1501-4dupnot provided [RCV003855285]benignX123417390123417391Humanname
402496704CV3179227single nucleotide variantNM_007325.5(GRIA3):c.109+15G>Cnot provided [RCV003877494]likely benignX123184659123184659Humanname
408381096CV3501394single nucleotide variantNM_007325.5(GRIA3):c.2077-1G>Cnot provided [RCV004727483]likely pathogenicX123464864123464864Humanname
597942547CV3786250single nucleotide variantNM_007325.5(GRIA3):c.1294-4A>Gnot provided [RCV005133941]likely benignX123404704123404704Humanname
597953104CV3815912deletionNM_007325.5(GRIA3):c.1501-4delnot provided [RCV005161664]benignX123417391123417391Humanname
597843458CV3827308single nucleotide variantNM_007325.5(GRIA3):c.2076+9T>Cnot provided [RCV005172579]likely benignX123428148123428148Humanname
597832934CV3831405single nucleotide variantNM_007325.5(GRIA3):c.750+16T>Cnot provided [RCV005170608]likely benignX123354979123354979Humanname
15193874CV760860single nucleotide variantNM_007325.5(GRIA3):c.2440-5C>Tnot provided [RCV000910964]likely benignX123482794123482794Humanname
150332913CV1169934single nucleotide variantNM_007325.5(GRIA3):c.269-141G>Tnot provided [RCV001537071]likely benignX123253162123253162Humanname
150336867CV1173541single nucleotide variantNM_007325.5(GRIA3):c.509-244A>Cnot provided [RCV001541243]benignX123325782123325782Humanname
150404772CV1178665single nucleotide variantNM_007325.5(GRIA3):c.913-183A>Gnot provided [RCV001544570]likely benignX123398453123398453Humanname
150422509CV1182050single nucleotide variantNM_007325.5(GRIA3):c.1878-39C>Tnot provided [RCV001552743]likely benignX123427902123427902Humanname
150417368CV1195688duplicationNM_007325.5(GRIA3):c.109+164dupnot provided [RCV001568738]likely benignX123184802123184803Humanname
150491298CV1210343single nucleotide variantNM_007325.5(GRIA3):c.1293+70C>Tnot provided [RCV001592625]likely benignX123403589123403589Humanname
150440837CV1220223deletionNM_007325.5(GRIA3):c.110-315delnot provided [RCV001610206]benignX123185509123185509Humanname
150516094CV1228236deletionNM_007325.5(GRIA3):c.696+173delnot provided [RCV001639042]benignX123326370123326370Humanname
150430557CV1230938single nucleotide variantNM_007325.5(GRIA3):c.696+170A>Gnot provided [RCV001641487]benignX123326383123326383Humanname
150432926CV1231593single nucleotide variantNM_007325.5(GRIA3):c.508+249A>Tnot provided [RCV001643255]benignX123253791123253791Humanname
150435384CV1233845single nucleotide variantNM_007325.5(GRIA3):c.268+171T>Anot provided [RCV001643972]benignX123186161123186161Humanname
150489055CV1237581single nucleotide variantNM_007325.5(GRIA3):c.269-218A>Gnot provided [RCV001654430]benignX123253085123253085Humanname
150470078CV1243266single nucleotide variantNM_007325.5(GRIA3):c.1293+48C>Tnot provided [RCV001650787]benignX123403567123403567Humanname
150443414CV1264594duplicationNM_007325.5(GRIA3):c.1501-13dupSyndromic X-linked intellectual disability 94 [RCV005232648]|not provided [RCV001679578]benignX123417381123417382Human1name
150460457CV1275824single nucleotide variantNM_007325.5(GRIA3):c.109+274C>Tnot provided [RCV001709762]benignX123184918123184918Humanname
150534124CV1293138single nucleotide variantNM_007325.5(GRIA3):c.1080+21T>Cnot provided [RCV001756356]benignX123398824123398824Humanname
151759514CV1361737single nucleotide variantNM_007325.5(GRIA3):c.1080+13A>Gnot provided [RCV001928345]likely benign|uncertain significanceX123398816123398816Humanname
151730299CV1517771single nucleotide variantNM_007325.5(GRIA3):c.1081-38G>Anot provided [RCV002052386]likely benignX123402956123402956Humanname
152068837CV1535236single nucleotide variantNM_007325.5(GRIA3):c.1185+19C>Tnot provided [RCV002091306]likely benignX123403117123403117Humanname
152174147CV1536083single nucleotide variantNM_007325.5(GRIA3):c.1294-20T>Cnot provided [RCV002144342]likely benignX123404688123404688Humanname
152085927CV1599344single nucleotide variantNM_007325.5(GRIA3):c.1080+20A>Cnot provided [RCV002093482]benignX123398823123398823Humanname
152110165CV1603406single nucleotide variantNM_007325.5(GRIA3):c.1186-17A>Gnot provided [RCV002096742]likely benignX123403395123403395Humanname
152109069CV1604147single nucleotide variantNM_007325.5(GRIA3):c.2440-16T>Cnot provided [RCV002079999]likely benignX123482783123482783Humanname
152104779CV1609388deletionNM_007325.5(GRIA3):c.1500+11delnot provided [RCV002115799]benignX123404920123404920Humanname
152036649CV1609877single nucleotide variantNM_007325.5(GRIA3):c.2440-14T>Cnot provided [RCV002165056]likely benignX123482785123482785Humanname
152108228CV1648212single nucleotide variantNM_007325.5(GRIA3):c.2440-18G>Anot provided [RCV002116198]likely benignX123482781123482781Humanname
152172557CV1660362single nucleotide variantNM_007325.5(GRIA3):c.1080+20A>Gnot provided [RCV002162500]likely benignX123398823123398823Humanname
156116947CV1972873single nucleotide variantNM_007325.5(GRIA3):c.1877+19C>Tnot provided [RCV002592984]likely benignX123417797123417797Humanname
156103091CV2001223single nucleotide variantNM_007325.5(GRIA3):c.1080+15G>Anot provided [RCV002639655]likely benignX123398818123398818Humanname
156324437CV2032281single nucleotide variantNM_007325.5(GRIA3):c.1501-20T>Cnot provided [RCV002717314]likely benignX123417382123417382Humanname
156280517CV2054960single nucleotide variantNM_007325.5(GRIA3):c.1186-10C>Tnot provided [RCV002832824]likely benignX123403402123403402Humanname
405169355CV2854166single nucleotide variantNM_007325.5(GRIA3):c.2324+13A>Cnot provided [RCV003542040]likely benignX123465125123465125Humanname
405208812CV2919802single nucleotide variantNM_007325.5(GRIA3):c.2076+18A>Cnot provided [RCV003566863]likely benignX123428157123428157Humanname
405179673CV3027712single nucleotide variantNM_007325.5(GRIA3):c.1080+14T>Cnot provided [RCV003705409]likely benignX123398817123398817Humanname
405218637CV3034926single nucleotide variantNM_007325.5(GRIA3):c.1185+10C>Gnot provided [RCV003709651]likely benignX123403108123403108Humanname
405109536CV3136844single nucleotide variantNM_007325.5(GRIA3):c.1186-14T>Anot provided [RCV003835998]likely benignX123403398123403398Humanname
405246683CV3158557single nucleotide variantNM_007325.5(GRIA3):c.2440-19C>Tnot provided [RCV003868899]likely benignX123482780123482780Humanname
405128931CV3163291single nucleotide variantNM_007325.5(GRIA3):c.2440-10T>Cnot provided [RCV003854472]likely benignX123482789123482789Humanname
597851708CV3758493single nucleotide variantNM_007325.5(GRIA3):c.2076+19A>Tnot provided [RCV005088051]likely benignX123428158123428158Humanname
597898859CV3826688single nucleotide variantNM_007325.5(GRIA3):c.2440-19C>Anot provided [RCV005180821]likely benignX123482780123482780Humanname
150410044CV1178666single nucleotide variantNM_007325.5(GRIA3):c.1293+244G>Anot provided [RCV001546459]likely benignX123403763123403763Humanname
150414434CV1178667single nucleotide variantNM_007325.5(GRIA3):c.1877+139T>Cnot provided [RCV001548125]likely benignX123417917123417917Humanname
150414584CV1192440single nucleotide variantNM_007325.5(GRIA3):c.2439+235C>Tnot provided [RCV001567601]likely benignX123480412123480412Humanname
150421269CV1199416duplicationNM_007325.5(GRIA3):c.1294-170dupnot provided [RCV001577963]likely benignX123404520123404521Humanname
150432637CV1200729single nucleotide variantNM_007325.5(GRIA3):c.1081-234A>Gnot provided [RCV001581452]likely benignX123402760123402760Humanname
150468945CV1207490single nucleotide variantNM_007325.5(GRIA3):c.2440-262C>Tnot provided [RCV001588179]likely benignX123482537123482537Humanname
150513563CV1211306single nucleotide variantNM_007325.5(GRIA3):c.1877+217T>Cnot provided [RCV001598494]likely benignX123417995123417995Humanname
150501545CV1213384single nucleotide variantNM_007325.5(GRIA3):c.2076+158C>Tnot provided [RCV001594796]benignX123428297123428297Humanname
150459974CV1231262single nucleotide variantNM_007325.5(GRIA3):c.1501-204C>Gnot provided [RCV001640826]benignX123417198123417198Humanname
150489285CV1250526deletionNM_007325.5(GRIA3):c.1294-170delnot provided [RCV001674489]benignX123404521123404521Humanname
405241402CV3004776single nucleotide variantNM_007325.5(GRIA3):c.2324+686A>Gnot provided [RCV003719282]likely benignX123465798123465798Humanname
126730921CV1022132single nucleotide variantNM_007325.5(GRIA3):c.268+16792G>ASyndromic X-linked intellectual disability 94 [RCV001333569]uncertain significanceX123202782123202782Human1name
10450199CV215613duplicationNM_007325.5(GRIA3):c.268+16757dupSyndromic X-linked intellectual disability 94 [RCV000608382]|not specified [RCV000203157]benignX123202745123202746Human1name
408379714CV3505933duplicationNM_007325.5(GRIA3):c.268+16785dupGRIA3-related disorder [RCV004728625]uncertain significanceX123202774123202775Humanname , trait , alternate_id
21073808CV792118duplicationNM_007325.5(GRIA3):c.268+16762dupSyndromic X-linked intellectual disability 94 [RCV000990936]|not provided [RCV001726409]|not specified [RCV001699498]benign|likely benignX123202748123202749Human1name
8659658CV134612single nucleotide variantNM_007325.5(GRIA3):c.15G>A (p.Lys5=)Inborn genetic diseases [RCV002313886]|not provided [RCV000882979]|not specified [RCV000117155]benign|likely benign|conflicting interpretations of pathogenicityX123184550123184550Human1name
405026580CV3079336insertionNM_007325.5(GRIA3):c.508+6_508+7insTnot provided [RCV003738831]likely benignX123253548123253549Humanname
405026594CV3079337deletionNM_007325.5(GRIA3):c.508+8_508+15delnot provided [RCV003738832]likely benignX123253550123253557Humanname
126742796CV1018891single nucleotide variantNM_007325.5(GRIA3):c.69G>A (p.Leu23=)Syndromic X-linked intellectual disability 94 [RCV001330040]|not provided [RCV001859270]likely benign|uncertain significanceX123184604123184604Human1name
152168237CV1547925single nucleotide variantNM_007325.5(GRIA3):c.57C>A (p.Val19=)GRIA3-related disorder [RCV004531521]|not provided [RCV002161064]likely benignX123184592123184592Human1name , trait , alternate_id
152154492CV1550592single nucleotide variantNM_007325.5(GRIA3):c.87A>T (p.Gly29=)not provided [RCV002139996]benignX123184622123184622Humanname
153002194CV1685451deletionNM_007325.5(GRIA3):c.1293+3_1293+6delnot provided [RCV002259437]uncertain significanceX123403520123403523Humanname
155902725CV2043714single nucleotide variantNM_007325.5(GRIA3):c.42G>A (p.Ala14=)not provided [RCV002771077]likely benignX123184577123184577Humanname
405201144CV2873437single nucleotide variantNM_007325.5(GRIA3):c.66T>G (p.Leu22=)not provided [RCV003551398]likely benignX123184601123184601Humanname
408393506CV3526163microsatelliteNM_007325.5(GRIA3):c.1185+5_1185+8delSyndromic X-linked intellectual disability 94 [RCV004771595]uncertain significanceX123403097123403100Humanname
597848689CV3824140single nucleotide variantNM_007325.5(GRIA3):c.42G>T (p.Ala14=)not provided [RCV005173379]likely benignX123184577123184577Humanname
597958775CV3848544single nucleotide variantNM_007325.5(GRIA3):c.39G>A (p.Arg13=)not provided [RCV005192245]likely benignX123184574123184574Humanname
597903416CV3851510single nucleotide variantNM_007325.5(GRIA3):c.5C>T (p.Ala2Val)not provided [RCV005202287]uncertain significanceX123184540123184540Humanname
14397426CV613216single nucleotide variantNM_007325.5(GRIA3):c.2T>C (p.Met1Thr)Inborn genetic diseases [RCV002440590]|not provided [RCV000762665]likely pathogenic|uncertain significanceX123184537123184537Human1name
151863468CV1365263single nucleotide variantNM_007325.5(GRIA3):c.11A>T (p.Gln4Leu)not provided [RCV002018057]likely benign|uncertain significanceX123184546123184546Humanname
151832356CV1396136single nucleotide variantNM_007325.5(GRIA3):c.10C>A (p.Gln4Lys)not provided [RCV001901934]uncertain significanceX123184545123184545Humanname
151863120CV1454343single nucleotide variantNM_007325.5(GRIA3):c.14A>C (p.Lys5Thr)not provided [RCV001938822]uncertain significanceX123184549123184549Humanname
152112003CV1520584single nucleotide variantNM_007325.5(GRIA3):c.255C>T (p.Ser85=)not provided [RCV002196899]likely benignX123185977123185977Humanname
152050660CV1606958deletionNM_007325.5(GRIA3):c.1293+8_1293+24delnot provided [RCV002108926]|not specified [RCV004587312]likely benign|uncertain significanceX123403524123403540Humanname
152164781CV1625602single nucleotide variantNM_007325.5(GRIA3):c.285G>A (p.Ser95=)Inborn genetic diseases [RCV002434520]|not provided [RCV002160318]likely benignX123253319123253319Human1name
152110894CV1651120single nucleotide variantNM_007325.5(GRIA3):c.222C>T (p.His74=)not provided [RCV002134470]likely benignX123185944123185944Humanname
152111223CV1651278single nucleotide variantNM_007325.5(GRIA3):c.153C>T (p.Phe51=)not provided [RCV002134511]likely benignX123185875123185875Humanname
152166282CV1661222single nucleotide variantNM_007325.5(GRIA3):c.249T>C (p.Ser83=)not provided [RCV002124194]likely benignX123185971123185971Humanname
155685358CV1850149single nucleotide variantNM_007325.5(GRIA3):c.20T>C (p.Met7Thr)Inborn genetic diseases [RCV002424203]uncertain significanceX123184555123184555Human1name
156211047CV1983375microsatelliteNM_007325.5(GRIA3):c.1501-11_1501-3delnot provided [RCV002626079]likely benignX123417377123417385Humanname
156129759CV2036503single nucleotide variantNM_007325.5(GRIA3):c.279G>A (p.Gln93=)not provided [RCV002786123]likely benignX123253313123253313Humanname
156233396CV2048857single nucleotide variantNM_007325.5(GRIA3):c.132A>T (p.Thr44=)not provided [RCV002791082]likely benignX123185854123185854Humanname
156093701CV2087645single nucleotide variantNM_007325.5(GRIA3):c.232T>C (p.Leu78=)not provided [RCV002847815]likely benignX123185954123185954Humanname
10404468CV208857single nucleotide variantNM_007325.5(GRIA3):c.162C>T (p.Ala54=)not provided [RCV003765222]|not specified [RCV000195146]likely benign|uncertain significanceX123185884123185884Humanname
402473464CV2908976single nucleotide variantNM_007325.5(GRIA3):c.26A>C (p.Gln9Pro)not provided [RCV003571004]uncertain significanceX123184561123184561Humanname
405104306CV3116693single nucleotide variantNM_007325.5(GRIA3):c.147C>T (p.Ser49=)not provided [RCV003812217]likely benignX123185869123185869Humanname
405085479CV3167302single nucleotide variantNM_007325.5(GRIA3):c.150T>C (p.Ala50=)not provided [RCV003851883]likely benignX123185872123185872Humanname
13215268CV430642single nucleotide variantNM_007325.5(GRIA3):c.159T>C (p.Phe53=)Inborn genetic diseases [RCV002404310]|not provided [RCV000881606]|not specified [RCV000502305]benign|likely benignX123185881123185881Human1name
15163890CV706089variationNM_007325.5(GRIA3):c.2323= (p.Arg775=)not provided [RCV000948201]benignX123465111123465111Humanname
150462748CV1276124deletionNM_007325.5(GRIA3):c.696+172_696+173delnot provided [RCV001710069]benignX123326370123326371Humanname
151772644CV1367167single nucleotide variantNM_007325.5(GRIA3):c.69G>C (p.Leu23Phe)Inborn genetic diseases [RCV003382774]|not provided [RCV001988388]likely benign|uncertain significanceX123184604123184604Human1name
151739904CV1381944single nucleotide variantNM_007325.5(GRIA3):c.55G>A (p.Val19Ile)not provided [RCV001968040]uncertain significanceX123184590123184590Humanname
151877988CV1415942single nucleotide variantNM_007325.5(GRIA3):c.64C>A (p.Leu22Ile)not provided [RCV001926067]uncertain significanceX123184599123184599Humanname
151739005CV1454669single nucleotide variantNM_007325.5(GRIA3):c.378G>A (p.Thr126=)not provided [RCV001946913]likely benignX123253412123253412Humanname
151838049CV1501303single nucleotide variantNM_007325.5(GRIA3):c.648A>G (p.Arg216=)not provided [RCV001977364]likely benign|uncertain significanceX123326165123326165Humanname
152168403CV1525082single nucleotide variantNM_007325.5(GRIA3):c.495T>C (p.Tyr165=)not provided [RCV002182433]likely benignX123253529123253529Humanname
152126316CV1527933single nucleotide variantNM_007325.5(GRIA3):c.855G>A (p.Gln285=)not provided [RCV002098867]likely benignX123395072123395072Humanname
152147666CV1528643single nucleotide variantNM_007325.5(GRIA3):c.717C>T (p.His239=)not provided [RCV002101731]likely benignX123354930123354930Humanname
152161663CV1534816single nucleotide variantNM_007325.5(GRIA3):c.342C>T (p.Thr114=)not provided [RCV002141023]benignX123253376123253376Humanname
152041472CV1568420single nucleotide variantNM_007325.5(GRIA3):c.441C>T (p.Gly147=)not provided [RCV002107803]likely benignX123253475123253475Humanname
152102759CV1591388single nucleotide variantNM_007325.5(GRIA3):c.663C>T (p.Cys221=)not provided [RCV002195761]likely benignX123326180123326180Humanname
152149815CV1603918single nucleotide variantNM_007325.5(GRIA3):c.396C>T (p.Asp132=)not provided [RCV002220628]likely benignX123253430123253430Humanname
152140373CV1613840single nucleotide variantNM_007325.5(GRIA3):c.402T>C (p.Asp134=)not provided [RCV002084075]likely benignX123253436123253436Humanname
152073552CV1615458single nucleotide variantNM_007325.5(GRIA3):c.378G>T (p.Thr126=)not provided [RCV002091918]likely benignX123253412123253412Humanname
152039167CV1616986single nucleotide variantNM_007325.5(GRIA3):c.336C>A (p.Thr112=)not provided [RCV002087697]likely benignX123253370123253370Humanname
152139382CV1624966single nucleotide variantNM_007325.5(GRIA3):c.444T>G (p.Ala148=)not provided [RCV002219173]likely benignX123253478123253478Humanname
152053158CV1651459single nucleotide variantNM_007325.5(GRIA3):c.786T>C (p.His262=)not provided [RCV002145932]likely benignX123395003123395003Humanname
155644176CV1706966single nucleotide variantNM_007325.5(GRIA3):c.43G>A (p.Val15Ile)Inborn genetic diseases [RCV004973403]|not provided [RCV002290921]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX123184578123184578Human1name
155724073CV1799382single nucleotide variantNM_007325.5(GRIA3):c.516C>T (p.Ser172=)Inborn genetic diseases [RCV002338374]likely benignX123326033123326033Human1name
155797679CV1860425single nucleotide variantNM_007325.5(GRIA3):c.68T>G (p.Leu23Trp)not provided [RCV002467067]uncertain significanceX123184603123184603Humanname
156090970CV1919739single nucleotide variantNM_007325.5(GRIA3):c.369C>T (p.Ser123=)not provided [RCV002591909]likely benignX123253403123253403Humanname
156123303CV1982867single nucleotide variantNM_007325.5(GRIA3):c.561A>G (p.Gln187=)not provided [RCV002623028]likely benignX123326078123326078Humanname
155907686CV1983321single nucleotide variantNM_007325.5(GRIA3):c.741C>T (p.Leu247=)not provided [RCV002613769]likely benignX123354954123354954Humanname
155937247CV2045029single nucleotide variantNM_007325.5(GRIA3):c.426C>T (p.Arg142=)not provided [RCV002774960]likely benignX123253460123253460Humanname
156311464CV2107516single nucleotide variantNM_007325.5(GRIA3):c.771G>A (p.Leu257=)Syndromic X-linked intellectual disability 94 [RCV005045051]|not provided [RCV002937191]likely benign|uncertain significanceX123394988123394988Human1name
156399981CV2185984single nucleotide variantNM_007325.5(GRIA3):c.907C>T (p.Leu303=)not provided [RCV003052220]benignX123395124123395124Humanname
156402920CV2189623single nucleotide variantNM_007325.5(GRIA3):c.969C>T (p.Tyr323=)not provided [RCV003052493]likely benignX123398692123398692Humanname
401929186CV2826935single nucleotide variantNM_007325.5(GRIA3):c.519C>T (p.Ile173=)not provided [RCV003439747]likely benignX123326036123326036Humanname
405201165CV2873439single nucleotide variantNM_007325.5(GRIA3):c.76T>A (p.Ser26Thr)not provided [RCV003551400]uncertain significanceX123184611123184611Humanname
402478994CV2924887single nucleotide variantNM_007325.5(GRIA3):c.73C>T (p.His25Tyr)not provided [RCV003571867]uncertain significanceX123184608123184608Humanname
405058208CV2928916single nucleotide variantNM_007325.5(GRIA3):c.882A>G (p.Glu294=)not provided [RCV003580278]likely benignX123395099123395099Humanname
402508045CV2941758single nucleotide variantNM_007325.5(GRIA3):c.735C>T (p.Tyr245=)not provided [RCV003662268]likely benignX123354948123354948Humanname
402513244CV2942964single nucleotide variantNM_007325.5(GRIA3):c.35T>C (p.Leu12Pro)not provided [RCV003662737]uncertain significanceX123184570123184570Humanname
402492788CV2981312single nucleotide variantNM_007325.5(GRIA3):c.684A>G (p.Thr228=)not provided [RCV003713941]likely benignX123326201123326201Humanname
405176763CV3023832single nucleotide variantNM_007325.5(GRIA3):c.987A>C (p.Val329=)not provided [RCV003705161]likely benignX123398710123398710Humanname
405253666CV3044893single nucleotide variantNM_007325.5(GRIA3):c.879G>A (p.Arg293=)not provided [RCV003722636]likely benignX123395096123395096Humanname
405162743CV3062740single nucleotide variantNM_007325.5(GRIA3):c.64C>T (p.Leu22Phe)not provided [RCV003727215]likely benignX123184599123184599Humanname
405144503CV3126163single nucleotide variantNM_007325.5(GRIA3):c.894C>T (p.Ala298=)not provided [RCV003817079]likely benignX123395111123395111Humanname
405144513CV3126164single nucleotide variantNM_007325.5(GRIA3):c.906A>T (p.Pro302=)not provided [RCV003817080]likely benignX123395123123395123Humanname
405270015CV3215350single nucleotide variantNM_007325.5(GRIA3):c.999G>A (p.Arg333=)GRIA3-related disorder [RCV004542320]likely benignX123398722123398722Humanname , trait , alternate_id
405757802CV3262511single nucleotide variantNM_007325.5(GRIA3):c.38G>A (p.Arg13Gln)Inborn genetic diseases [RCV004393729]uncertain significanceX123184573123184573Human1name
407463100CV3433154single nucleotide variantNM_007325.5(GRIA3):c.37C>T (p.Arg13Trp)Inborn genetic diseases [RCV004634739]likely benignX123184572123184572Human1name
596943640CV3542904single nucleotide variantNM_007325.5(GRIA3):c.70G>T (p.Gly24Cys)not provided [RCV004798488]uncertain significanceX123184605123184605Humanname
597840320CV3737157single nucleotide variantNM_007325.5(GRIA3):c.41C>T (p.Ala14Val)not provided [RCV005064637]uncertain significanceX123184576123184576Humanname
597903038CV3741548single nucleotide variantNM_007325.5(GRIA3):c.540A>G (p.Ala180=)not provided [RCV005072519]likely benignX123326057123326057Humanname
597947455CV3758968single nucleotide variantNM_007325.5(GRIA3):c.483T>C (p.Phe161=)not provided [RCV005078764]likely benignX123253517123253517Humanname
597832606CV3760250single nucleotide variantNM_007325.5(GRIA3):c.303C>T (p.Ile101=)not provided [RCV005084993]likely benignX123253337123253337Humanname
597972346CV3812924single nucleotide variantNM_007325.5(GRIA3):c.357C>T (p.Ala119=)not provided [RCV005167377]likely benignX123253391123253391Humanname
597879475CV3826256single nucleotide variantNM_007325.5(GRIA3):c.997C>A (p.Arg333=)not provided [RCV005177952]likely benignX123398720123398720Humanname
597843060CV3827248single nucleotide variantNM_007325.5(GRIA3):c.339G>A (p.Leu113=)not provided [RCV005172519]likely benignX123253373123253373Humanname
597957593CV3838525single nucleotide variantNM_007325.5(GRIA3):c.95A>T (p.Asn32Ile)not provided [RCV005191900]uncertain significanceX123184630123184630Humanname
597897699CV3854418single nucleotide variantNM_007325.5(GRIA3):c.798C>T (p.Asn266=)not provided [RCV005201525]likely benignX123395015123395015Humanname
13216434CV430643single nucleotide variantNM_007325.5(GRIA3):c.585C>T (p.Asn195=)not provided [RCV002527255]|not specified [RCV000503756]likely benignX123326102123326102Humanname
15151103CV729382single nucleotide variantNM_007325.5(GRIA3):c.390C>T (p.Pro130=)Inborn genetic diseases [RCV002372504]|not provided [RCV000879524]benign|likely benignX123253424123253424Human1name
15146486CV743122single nucleotide variantNM_007325.5(GRIA3):c.528G>A (p.Ala176=)not provided [RCV000900332]likely benignX123326045123326045Humanname
15160317CV758248single nucleotide variantNM_007325.5(GRIA3):c.636G>A (p.Arg212=)not provided [RCV000925460]likely benignX123326153123326153Humanname
15136209CV758249single nucleotide variantNM_007325.5(GRIA3):c.933C>T (p.His311=)not provided [RCV000920974]likely benignX123398656123398656Humanname
40887162CV974282single nucleotide variantNM_007325.5(GRIA3):c.40G>A (p.Ala14Thr)Inborn genetic diseases [RCV001266612]|not provided [RCV002285467]uncertain significanceX123184575123184575Human1name
150508089CV1244733single nucleotide variantNM_007325.5(GRIA3):c.2631T>C (p.Tyr877=)not provided [RCV001658982]likely benignX123482990123482990Humanname
150435898CV1275149duplicationNM_007325.5(GRIA3):c.384dup (p.Phe129fs)Syndromic X-linked intellectual disability 94 [RCV001702201]benignX123253417123253418Human1name
150465994CV1277330single nucleotide variantNM_007325.5(GRIA3):c.1326T>C (p.His442=)not provided [RCV001710625]benign|likely benignX123404740123404740Humanname
151235424CV1318737single nucleotide variantNM_007325.5(GRIA3):c.123G>C (p.Met41Ile)GRIA3-related complex neurodevelopmental disorder [RCV001795554]uncertain significanceX123185845123185845Humanname , trait
8659659CV134613single nucleotide variantNM_007325.5(GRIA3):c.1200T>C (p.Asn400=)Inborn genetic diseases [RCV002312118]|Syndromic X-linked intellectual disability 94 [RCV001701600]|not provided [RCV001668239]|not specified [RCV000117156]benign|likely benignX123403426123403426Human2name
152112283CV1520738single nucleotide variantNM_007325.5(GRIA3):c.2013A>G (p.Leu671=)not provided [RCV002196937]likely benignX123428076123428076Humanname
152046729CV1527191single nucleotide variantNM_000828.5(GRIA3):c.2415C>T (p.Cys805=)not provided [RCV002166358]likely benignX123465764123465764Humanname
152125427CV1532339single nucleotide variantNM_007325.5(GRIA3):c.2556A>G (p.Ala852=)not provided [RCV002118392]likely benignX123482915123482915Humanname
152158391CV1541990single nucleotide variantNM_007325.5(GRIA3):c.2196C>T (p.Phe732=)not provided [RCV002103316]likely benignX123464984123464984Humanname
152076079CV1542728single nucleotide variantNM_007325.5(GRIA3):c.2256G>A (p.Thr752=)not provided [RCV002130236]likely benignX123465044123465044Humanname
152168656CV1545451single nucleotide variantNM_007325.5(GRIA3):c.2619C>T (p.Asn873=)not provided [RCV002142521]likely benignX123482978123482978Humanname
152027177CV1562528single nucleotide variantNM_007325.5(GRIA3):c.1956C>T (p.Leu652=)not provided [RCV002104805]likely benignX123428019123428019Humanname
152051056CV1569183single nucleotide variantNM_007325.5(GRIA3):c.2553G>A (p.Arg851=)not provided [RCV002207528]likely benignX123482912123482912Humanname
152103743CV1574667single nucleotide variantNM_007325.5(GRIA3):c.1461T>G (p.Thr487=)not provided [RCV002095869]likely benignX123404875123404875Humanname
152067073CV1579097single nucleotide variantNM_007325.5(GRIA3):c.1473C>T (p.Asn491=)not provided [RCV002074595]likely benignX123404887123404887Humanname
152129997CV1583984single nucleotide variantNM_007325.5(GRIA3):c.1998G>A (p.Glu666=)not provided [RCV002199191]likely benignX123428061123428061Humanname
152059254CV1597528single nucleotide variantNM_007325.5(GRIA3):c.1887C>T (p.Ser629=)not provided [RCV002128146]likely benignX123427950123427950Humanname
152172432CV1599123single nucleotide variantNM_007325.5(GRIA3):c.2097C>T (p.Tyr699=)Inborn genetic diseases [RCV002416499]|not provided [RCV002143776]benignX123464885123464885Human1name
152162924CV1606400single nucleotide variantNM_007325.5(GRIA3):c.2604T>A (p.Pro868=)not provided [RCV002181244]likely benignX123482963123482963Humanname
152100612CV1606746single nucleotide variantNM_007325.5(GRIA3):c.1431C>T (p.Asp477=)not provided [RCV002195499]likely benignX123404845123404845Humanname
152106299CV1609037single nucleotide variantNM_000828.5(GRIA3):c.2421C>T (p.Ser807=)not provided [RCV002096211]likely benignX123465770123465770Humanname
152039558CV1617208single nucleotide variantNM_007325.5(GRIA3):c.1710T>C (p.Leu570=)not provided [RCV002087752]likely benignX123417611123417611Humanname
155266721CV1699282single nucleotide variantNM_007325.5(GRIA3):c.1629C>T (p.Gly543=)not provided [RCV002283077]uncertain significanceX123417530123417530Humanname
155689499CV1826694single nucleotide variantNM_007325.5(GRIA3):c.1422C>T (p.Ile474=)Inborn genetic diseases [RCV002391844]likely benignX123404836123404836Human1name
156316473CV1901259single nucleotide variantNM_007325.5(GRIA3):c.1113A>G (p.Gln371=)not provided [RCV002578979]likely benignX123403026123403026Humanname
156367059CV1902725single nucleotide variantNM_007325.5(GRIA3):c.2127G>A (p.Ala709=)not provided [RCV003092133]benignX123464915123464915Humanname
156302598CV1916190single nucleotide variantNM_007325.5(GRIA3):c.1317G>A (p.Lys439=)not provided [RCV002599246]likely benignX123404731123404731Humanname
156321215CV1968648single nucleotide variantNM_007325.5(GRIA3):c.2655C>T (p.Asn885=)not provided [RCV002630356]likely benignX123483014123483014Humanname
156092805CV1994450single nucleotide variantNM_007325.5(GRIA3):c.1530T>C (p.Thr510=)not provided [RCV002639283]likely benignX123417431123417431Humanname
156405525CV1994451single nucleotide variantNM_007325.5(GRIA3):c.1837T>C (p.Leu613=)not provided [RCV002658328]benignX123417738123417738Humanname
156014466CV2013402single nucleotide variantNM_007325.5(GRIA3):c.2160C>T (p.Asp720=)not provided [RCV002735068]likely benignX123464948123464948Humanname
156114036CV2018679single nucleotide variantNM_007325.5(GRIA3):c.2112T>C (p.Ser704=)not provided [RCV002695781]likely benignX123464900123464900Humanname
156197638CV2034543single nucleotide variantNM_007325.5(GRIA3):c.1389C>T (p.Ala463=)not provided [RCV002766120]likely benignX123404803123404803Humanname
156299237CV2069821single nucleotide variantNM_007325.5(GRIA3):c.2238G>A (p.Gln746=)not provided [RCV002833542]likely benignX123465026123465026Humanname
156218047CV2081903single nucleotide variantNM_007325.5(GRIA3):c.1965C>T (p.Phe655=)not provided [RCV002894072]likely benignX123428028123428028Humanname
156111045CV2082189single nucleotide variantNM_007325.5(GRIA3):c.1380T>C (p.Tyr460=)not provided [RCV002848455]likely benignX123404794123404794Humanname
156217074CV2087228single nucleotide variantNM_007325.5(GRIA3):c.1713C>T (p.Phe571=)not provided [RCV002875718]likely benignX123417614123417614Humanname
156207711CV2103840single nucleotide variantNM_007325.5(GRIA3):c.1299A>G (p.Ser433=)not provided [RCV002931931]likely benignX123404713123404713Humanname
156300332CV2119469single nucleotide variantNM_007325.5(GRIA3):c.1155G>A (p.Val385=)not provided [RCV002962114]likely benignX123403068123403068Humanname
155918463CV2152598single nucleotide variantNM_007325.5(GRIA3):c.125G>A (p.Arg42Lys)not provided [RCV002991780]uncertain significanceX123185847123185847Humanname
156311126CV2164100single nucleotide variantNM_007325.5(GRIA3):c.1734T>A (p.Pro578=)not provided [RCV003046036]likely benignX123417635123417635Humanname
156366541CV2177085single nucleotide variantNM_007325.5(GRIA3):c.1581C>T (p.Ser527=)not provided [RCV003049385]benignX123417482123417482Humanname
156379787CV2178959single nucleotide variantNM_007325.5(GRIA3):c.287G>C (p.Arg96Thr)not provided [RCV003050398]uncertain significanceX123253321123253321Humanname
401830961CV2748609single nucleotide variantNM_007325.5(GRIA3):c.284C>T (p.Ser95Leu)Syndromic X-linked intellectual disability 94 [RCV003330259]likely benignX123253318123253318Human1name
401929183CV2826934single nucleotide variantNM_007325.5(GRIA3):c.232T>A (p.Leu78Met)not provided [RCV003439746]uncertain significanceX123185954123185954Humanname
401929188CV2826936single nucleotide variantNM_007325.5(GRIA3):c.1278A>T (p.Val426=)not provided [RCV003439748]likely benignX123403504123403504Humanname
405046181CV2859810single nucleotide variantNM_007325.5(GRIA3):c.1359C>T (p.Gly453=)not provided [RCV003579356]likely benignX123404773123404773Humanname
402491979CV2863130single nucleotide variantNM_007325.5(GRIA3):c.253T>C (p.Ser85Pro)not provided [RCV003573105]uncertain significanceX123185975123185975Humanname
402518572CV2877233single nucleotide variantNM_007325.5(GRIA3):c.1068A>G (p.Arg356=)not provided [RCV003575675]likely benignX123398791123398791Humanname
405112132CV2900411single nucleotide variantNM_007325.5(GRIA3):c.1761T>C (p.Asn587=)not provided [RCV003558029]likely benignX123417662123417662Humanname
405060969CV2926284single nucleotide variantNM_007325.5(GRIA3):c.1617A>G (p.Lys539=)not provided [RCV003580470]likely benignX123417518123417518Humanname
402489777CV2941700single nucleotide variantNM_007325.5(GRIA3):c.1992C>T (p.Pro664=)not provided [RCV003660382]likely benignX123428055123428055Humanname
405069540CV2944765single nucleotide variantNM_007325.5(GRIA3):c.1128A>T (p.Gly376=)not provided [RCV003663898]likely benignX123403041123403041Humanname
402484382CV2944878single nucleotide variantNM_007325.5(GRIA3):c.1905G>A (p.Gly635=)not provided [RCV003659935]likely benignX123427968123427968Humanname
405126364CV2958462single nucleotide variantNM_007325.5(GRIA3):c.163G>A (p.Val55Met)not provided [RCV003667961]uncertain significanceX123185885123185885Humanname
405172798CV2961418single nucleotide variantNM_007325.5(GRIA3):c.104G>A (p.Ser35Asn)not provided [RCV003675492]uncertain significanceX123184639123184639Humanname
405231596CV2974533single nucleotide variantNM_007325.5(GRIA3):c.2286A>G (p.Lys762=)not provided [RCV003682347]likely benignX123465074123465074Humanname
405245242CV3055011single nucleotide variantNM_007325.5(GRIA3):c.1977G>A (p.Glu659=)not provided [RCV003720236]benignX123428040123428040Humanname
405205976CV3068294single nucleotide variantNM_007325.5(GRIA3):c.2256G>C (p.Thr752=)not provided [RCV003731314]likely benignX123465044123465044Humanname
405113839CV3115357single nucleotide variantNM_007325.5(GRIA3):c.1308A>G (p.Val436=)not provided [RCV003814039]likely benignX123404722123404722Humanname
405176984CV3119354single nucleotide variantNM_007325.5(GRIA3):c.123G>A (p.Met41Ile)Syndromic X-linked intellectual disability 94 [RCV004720401]|not provided [RCV003819639]likely benign|uncertain significanceX123185845123185845Human1name
405042591CV3141235single nucleotide variantNM_007325.5(GRIA3):c.2463G>C (p.Leu821=)not provided [RCV003831528]likely benignX123482822123482822Humanname
405232105CV3144549single nucleotide variantNM_007325.5(GRIA3):c.1626A>G (p.Pro542=)not provided [RCV003853002]likely benignX123417527123417527Humanname
405232111CV3144550single nucleotide variantNM_007325.5(GRIA3):c.2451C>T (p.Ser817=)not provided [RCV003853003]likely benignX123482810123482810Humanname
405139763CV3155183single nucleotide variantNM_007325.5(GRIA3):c.2481T>C (p.Val827=)not provided [RCV003855421]likely benignX123482840123482840Humanname
405238068CV3165443single nucleotide variantNM_007325.5(GRIA3):c.2052C>T (p.Ser684=)not provided [RCV003866645]likely benignX123428115123428115Humanname
408390273CV3525011deletionNM_007325.5(GRIA3):c.887del (p.Pro296fs)not provided [RCV004769906]uncertain significanceX123395102123395102Humanname
408385848CV3528710single nucleotide variantNM_007325.5(GRIA3):c.257T>C (p.Val86Ala)not provided [RCV004772543]uncertain significanceX123185979123185979Humanname
597906916CV3781403single nucleotide variantNM_007325.5(GRIA3):c.1695A>G (p.Gly565=)not provided [RCV005128091]likely benignX123417596123417596Humanname
597898022CV3782505single nucleotide variantNM_007325.5(GRIA3):c.1101T>C (p.Thr367=)not provided [RCV005126730]likely benignX123403014123403014Humanname
597930159CV3789263single nucleotide variantNM_007325.5(GRIA3):c.1857A>G (p.Gln619=)not provided [RCV005131544]likely benignX123417758123417758Humanname
597962083CV3809074single nucleotide variantNM_007325.5(GRIA3):c.1644G>C (p.Leu548=)not provided [RCV005163976]likely benignX123417545123417545Humanname
597942555CV3815602single nucleotide variantNM_007325.5(GRIA3):c.2049C>T (p.Asp683=)not provided [RCV005159291]likely benignX123428112123428112Humanname
597965715CV3823559single nucleotide variantNM_007325.5(GRIA3):c.1875A>G (p.Pro625=)not provided [RCV005164979]likely benignX123417776123417776Humanname
597970846CV3832648single nucleotide variantNM_007325.5(GRIA3):c.1110T>C (p.Ile370=)not provided [RCV005166727]likely benignX123403023123403023Humanname
13540281CV507718single nucleotide variantNM_007325.5(GRIA3):c.2502T>C (p.Gly834=)not provided [RCV002060648]|not specified [RCV000614481]likely benignX123482861123482861Humanname
13530472CV512574single nucleotide variantNM_007325.5(GRIA3):c.159T>G (p.Phe53Leu)Inborn genetic diseases [RCV000622531]uncertain significanceX123185881123185881Human1name
13809748CV577931single nucleotide variantNM_007325.5(GRIA3):c.1440T>C (p.Tyr480=)Inborn genetic diseases [RCV002388355]|not provided [RCV000711849]benign|likely benignX123404854123404854Human1name
13829799CV580916single nucleotide variantNM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)Inborn genetic diseases [RCV002318104]|Syndromic X-linked intellectual disability 94 [RCV002493279]|not provided [RCV000915624]benign|likely benignX123403038123403038Human2name
15123610CV758250single nucleotide variantNM_007325.5(GRIA3):c.1158T>C (p.Tyr386=)Inborn genetic diseases [RCV002354756]|not provided [RCV000918852]likely benignX123403071123403071Human1name
21075173CV798154single nucleotide variantNM_007325.5(GRIA3):c.106A>G (p.Ile36Val)Inborn genetic diseases [RCV004030198]|not provided [RCV000996009]conflicting interpretations of pathogenicity|uncertain significanceX123184641123184641Human1name
127287005CV1152964single nucleotide variantNM_007325.5(GRIA3):c.826G>C (p.Glu276Gln)Syndromic X-linked intellectual disability 94 [RCV002564201]|not provided [RCV001507543]uncertain significanceX123395043123395043Human1name
150339456CV1174883deletionNM_007325.5(GRIA3):c.1672del (p.Cys558fs)not provided [RCV001543518]likely pathogenicX123417573123417573Humanname
150407810CV1178664single nucleotide variantNM_007325.5(GRIA3):c.647G>A (p.Arg216Gln)GRIA3-related disorder [RCV004734226]|Inborn genetic diseases [RCV002359163]|not provided [RCV001545697]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX123326164123326164Human2name , trait , alternate_id
150426648CV1189050single nucleotide variantNM_007325.5(GRIA3):c.515C>G (p.Ser172Cys)not provided [RCV001559844]uncertain significanceX123326032123326032Humanname
150431557CV1206389single nucleotide variantNM_007325.5(GRIA3):c.419A>G (p.Gln140Arg)Inborn genetic diseases [RCV002329692]|not provided [RCV001581038]conflicting interpretations of pathogenicity|uncertain significanceX123253453123253453Human1name
150431600CV1206401deletionNM_007325.5(GRIA3):c.1294-171_1294-170delnot provided [RCV001581050]likely benignX123404521123404522Humanname
150531884CV1291463deletionNM_007325.5(GRIA3):c.1294-176_1294-170delnot provided [RCV001733262]likely benignX123404521123404527Humanname
150549139CV1294712single nucleotide variantNM_007325.5(GRIA3):c.527C>A (p.Ala176Glu)not provided [RCV001752204]uncertain significanceX123326044123326044Humanname
150555148CV1295966single nucleotide variantNM_007325.5(GRIA3):c.976A>G (p.Arg326Gly)not provided [RCV001772475]uncertain significanceX123398699123398699Humanname
150553137CV1298166single nucleotide variantNM_007325.5(GRIA3):c.627G>A (p.Met209Ile)not provided [RCV001768779]uncertain significanceX123326144123326144Humanname
150530978CV1299201single nucleotide variantNM_007325.5(GRIA3):c.328A>G (p.Met110Val)not provided [RCV001756894]conflicting interpretations of pathogenicity|uncertain significanceX123253362123253362Humanname
150549972CV1299758single nucleotide variantNM_007325.5(GRIA3):c.842A>G (p.Gln281Arg)not provided [RCV001752684]uncertain significanceX123395059123395059Humanname
150554614CV1304330single nucleotide variantNM_007325.5(GRIA3):c.791G>A (p.Gly264Glu)not provided [RCV001771300]uncertain significanceX123395008123395008Humanname
151235184CV1318445single nucleotide variantNM_007325.5(GRIA3):c.913T>C (p.Tyr305His)not provided [RCV001794768]uncertain significanceX123398636123398636Humanname
151663256CV1331020single nucleotide variantNM_007325.5(GRIA3):c.609G>T (p.Arg203Ser)Syndromic X-linked intellectual disability 94 [RCV001825193]|not provided [RCV002034684]uncertain significance|not providedX123326126123326126Human1name
151767697CV1341252single nucleotide variantNM_007325.5(GRIA3):c.403G>A (p.Val135Met)GRIA3-related disorder [RCV004734295]|not provided [RCV001863773]uncertain significanceX123253437123253437Human1name , trait , alternate_id
151855460CV1344593single nucleotide variantNM_007325.5(GRIA3):c.742G>A (p.Ala248Thr)Inborn genetic diseases [RCV004043374]|not provided [RCV001923337]uncertain significanceX123354955123354955Human1name
151731875CV1355528single nucleotide variantNM_007325.5(GRIA3):c.424C>T (p.Arg142Cys)Syndromic X-linked intellectual disability 94 [RCV002272557]|not provided [RCV001984291]uncertain significanceX123253458123253458Human1name
151750533CV1381127single nucleotide variantNM_007325.5(GRIA3):c.967T>C (p.Tyr323His)Inborn genetic diseases [RCV002548221]|not provided [RCV002023330]uncertain significanceX123398690123398690Human1name
151793315CV1390272single nucleotide variantNM_007325.5(GRIA3):c.611G>A (p.Arg204His)Inborn genetic diseases [RCV004043630]|not provided [RCV001952250]likely benign|uncertain significanceX123326128123326128Human1name
151851355CV1391828single nucleotide variantNM_007325.5(GRIA3):c.379C>G (p.Pro127Ala)GRIA3-related disorder [RCV004536363]|not provided [RCV002033219]uncertain significanceX123253413123253413Human1name , trait , alternate_id
151765181CV1393687single nucleotide variantNM_007325.5(GRIA3):c.471G>C (p.Lys157Asn)not provided [RCV002008304]uncertain significanceX123253505123253505Humanname
151828259CV1395948single nucleotide variantNM_007325.5(GRIA3):c.430G>A (p.Ala144Thr)Inborn genetic diseases [RCV002331655]|not provided [RCV002050466]likely benign|uncertain significanceX123253464123253464Human1name
151805497CV1429904single nucleotide variantNM_007325.5(GRIA3):c.587T>C (p.Ile196Thr)Inborn genetic diseases [RCV003170327]|not provided [RCV001974296]likely benign|uncertain significanceX123326104123326104Human1name
151794131CV1434215single nucleotide variantNM_007325.5(GRIA3):c.670G>A (p.Glu224Lys)not provided [RCV001866522]uncertain significanceX123326187123326187Humanname
151886529CV1435769single nucleotide variantNM_007325.5(GRIA3):c.779T>A (p.Val260Asp)not provided [RCV001962779]uncertain significanceX123394996123394996Humanname
151867389CV1447799single nucleotide variantNM_007325.5(GRIA3):c.922G>T (p.Ala308Ser)not provided [RCV001924774]uncertain significanceX123398645123398645Humanname
151819066CV1466095single nucleotide variantNM_007325.5(GRIA3):c.832C>A (p.Pro278Thr)not provided [RCV001900700]uncertain significanceX123395049123395049Humanname
151855195CV1466342single nucleotide variantNM_007325.5(GRIA3):c.965G>A (p.Arg322His)not provided [RCV001883253]uncertain significanceX123398688123398688Humanname
151871842CV1470525single nucleotide variantNM_007325.5(GRIA3):c.595G>A (p.Val199Ile)not provided [RCV001925323]uncertain significanceX123326112123326112Humanname
151787387CV1488689single nucleotide variantNM_007325.5(GRIA3):c.442G>A (p.Ala148Thr)not provided [RCV002010335]uncertain significanceX123253476123253476Humanname
153345627CV1691217single nucleotide variantNM_007325.5(GRIA3):c.949A>G (p.Ile317Val)Syndromic X-linked intellectual disability 94 [RCV002272698]uncertain significanceX123398672123398672Human1name
153347615CV1692131single nucleotide variantNM_007325.5(GRIA3):c.356C>T (p.Ala119Val)not provided [RCV002273616]uncertain significanceX123253390123253390Humanname
155265011CV1704561single nucleotide variantNM_007325.5(GRIA3):c.517A>G (p.Ile173Val)not provided [RCV002284777]uncertain significanceX123326034123326034Humanname
155738498CV1772975single nucleotide variantNM_007325.5(GRIA3):c.992T>C (p.Val331Ala)Inborn genetic diseases [RCV004047705]|not provided [RCV002302163]uncertain significanceX123398715123398715Human1name
155687589CV1817376deletionNM_007325.5(GRIA3):c.1266del (p.Arg423fs)Inborn genetic diseases [RCV002373351]pathogenicX123403492123403492Human1name
10048696CV194329single nucleotide variantNM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)Syndromic X-linked intellectual disability 94 [RCV003152691]|not provided [RCV000178131]pathogenic|likely pathogenicX123326163123326163Human1name
156260995CV1960645single nucleotide variantNM_007325.5(GRIA3):c.407A>G (p.Gln136Arg)not provided [RCV002576845]uncertain significanceX123253441123253441Humanname
156401361CV1992079single nucleotide variantNM_007325.5(GRIA3):c.400G>A (p.Asp134Asn)not provided [RCV002605638]uncertain significanceX123253434123253434Humanname
156386426CV1999252single nucleotide variantNM_007325.5(GRIA3):c.436A>G (p.Lys146Glu)not provided [RCV002654022]uncertain significanceX123253470123253470Humanname
156092285CV2030660single nucleotide variantNM_007325.5(GRIA3):c.533T>C (p.Met178Thr)not provided [RCV002760992]uncertain significanceX123326050123326050Humanname
156086471CV2034097single nucleotide variantNM_007325.5(GRIA3):c.770T>C (p.Leu257Pro)Inborn genetic diseases [RCV003274014]|not provided [RCV002760794]likely benign|uncertain significanceX123394987123394987Human1name
155948527CV2036185single nucleotide variantNM_007325.5(GRIA3):c.329T>C (p.Met110Thr)not provided [RCV002775641]uncertain significanceX123253363123253363Humanname
155937279CV2114274single nucleotide variantNM_007325.5(GRIA3):c.964C>T (p.Arg322Cys)not provided [RCV002904227]uncertain significanceX123398687123398687Humanname
155987214CV2153960single nucleotide variantNM_007325.5(GRIA3):c.388C>T (p.Pro130Ser)not provided [RCV003016649]uncertain significanceX123253422123253422Humanname
11049700CV225821single nucleotide variantNM_007325.5(GRIA3):c.466T>C (p.Tyr156His)Syndromic X-linked intellectual disability 94 [RCV000209928]|not provided [RCV002515567]likely pathogenic|likely benign|uncertain significanceX123253500123253500Human1name
11049691CV225850single nucleotide variantNM_007325.5(GRIA3):c.580G>A (p.Gly194Arg)Syndromic X-linked intellectual disability 94 [RCV000209883]|not provided [RCV001582717]likely pathogenic|likely benign|conflicting interpretations of pathogenicityX123326097123326097Human1name
329394853CV2457680single nucleotide variantNM_007325.5(GRIA3):c.997C>T (p.Arg333Trp)Inborn genetic diseases [RCV003193950]|not provided [RCV005061081]uncertain significanceX123398720123398720Human1name
329846756CV2523898single nucleotide variantNM_007325.5(GRIA3):c.783G>A (p.Met261Ile)Syndromic X-linked intellectual disability 94 [RCV003226600]uncertain significanceX123395000123395000Human1name
11641594CV265758single nucleotide variantNM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)History of neurodevelopmental disorder [RCV000721085]|not provided [RCV000514514]|not specified [RCV000359504]benign|likely benign|uncertain significanceX123253431123253431Humanname
329848152CV2667771single nucleotide variantNM_007325.5(GRIA3):c.821A>G (p.Asn274Ser)not provided [RCV003229338]uncertain significanceX123395038123395038Humanname
329953737CV2668552single nucleotide variantNM_007325.5(GRIA3):c.490C>G (p.Leu164Val)not provided [RCV003230205]uncertain significanceX123253524123253524Humanname
329952250CV2668948single nucleotide variantNM_007325.5(GRIA3):c.538G>A (p.Ala180Thr)not provided [RCV003708749]|not specified [RCV003231033]uncertain significanceX123326055123326055Humanname
329951779CV2671441single nucleotide variantNM_007325.5(GRIA3):c.307G>T (p.Gly103Ter)Syndromic X-linked intellectual disability 94 [RCV003236651]likely pathogenicX123253341123253341Human1name
401757419CV2692993single nucleotide variantNM_007325.5(GRIA3):c.527C>G (p.Ala176Gly)Inborn genetic diseases [RCV003256037]|not provided [RCV005061179]uncertain significanceX123326044123326044Human1name
401739216CV2738505single nucleotide variantNM_007325.5(GRIA3):c.425G>A (p.Arg142His)not provided [RCV003720844]|not specified [RCV003317897]likely benign|uncertain significanceX123253459123253459Humanname
401855565CV2752983single nucleotide variantNM_007325.5(GRIA3):c.536A>G (p.Glu179Gly)Syndromic X-linked intellectual disability 94 [RCV003338038]uncertain significanceX123326053123326053Human1name
401859974CV2794440single nucleotide variantNM_007325.5(GRIA3):c.908T>C (p.Leu303Pro)not provided [RCV003387608]uncertain significanceX123395125123395125Humanname
405090255CV2859303single nucleotide variantNM_007325.5(GRIA3):c.458T>C (p.Leu153Pro)not provided [RCV003549827]uncertain significanceX123253492123253492Humanname
405063275CV2939758single nucleotide variantNM_007325.5(GRIA3):c.937G>A (p.Ala313Thr)not provided [RCV003658937]uncertain significanceX123398660123398660Humanname
405130674CV2953709single nucleotide variantNM_007325.5(GRIA3):c.710G>A (p.Gly237Glu)not provided [RCV003672379]uncertain significanceX123354923123354923Humanname
402509462CV2994639duplicationNM_007325.5(GRIA3):c.1564dup (p.Ser522fs)not provided [RCV003689415]pathogenicX123417460123417461Humanname
402516890CV3003222single nucleotide variantNM_007325.5(GRIA3):c.676A>G (p.Ile226Val)not provided [RCV003716137]uncertain significanceX123326193123326193Humanname
405134706CV3018534single nucleotide variantNM_007325.5(GRIA3):c.488A>G (p.Tyr163Cys)not provided [RCV003701999]uncertain significanceX123253522123253522Humanname
405053729CV3022372single nucleotide variantNM_007325.5(GRIA3):c.440G>A (p.Gly147Asp)not provided [RCV003697189]uncertain significanceX123253474123253474Humanname
405165664CV3149438single nucleotide variantNM_007325.5(GRIA3):c.851T>C (p.Ile284Thr)not provided [RCV003841100]uncertain significanceX123395068123395068Humanname
405237304CV3152394single nucleotide variantNM_007325.5(GRIA3):c.577G>A (p.Val193Met)not provided [RCV003854109]benignX123326094123326094Humanname
405215883CV3160766single nucleotide variantNM_007325.5(GRIA3):c.787G>C (p.Gly263Arg)not provided [RCV003862828]uncertain significanceX123395004123395004Humanname
404990913CV3176261single nucleotide variantNM_007325.5(GRIA3):c.664G>A (p.Glu222Lys)not provided [RCV003881586]uncertain significanceX123326181123326181Humanname
405268927CV3187167single nucleotide variantNM_007325.5(GRIA3):c.940A>G (p.Ile314Val)not provided [RCV003887251]uncertain significanceX123398663123398663Humanname
405708805CV3225556single nucleotide variantNM_007325.5(GRIA3):c.628G>C (p.Asp210His)Syndromic X-linked intellectual disability 94 [RCV003990613]uncertain significanceX123326145123326145Human1name
405744576CV3226132single nucleotide variantNM_007325.5(GRIA3):c.880G>T (p.Glu294Ter)Syndromic X-linked intellectual disability 94 [RCV003991123]uncertain significanceX123395097123395097Human1name
407429603CV3413933single nucleotide variantNM_007325.5(GRIA3):c.793G>A (p.Ala265Thr)Syndromic X-linked intellectual disability 94 [RCV004595342]uncertain significanceX123395010123395010Human1name
408390666CV3520956single nucleotide variantNM_007325.5(GRIA3):c.856C>A (p.Arg286Ser)not provided [RCV004762778]uncertain significanceX123395073123395073Humanname
408391261CV3521270single nucleotide variantNM_007325.5(GRIA3):c.428C>T (p.Pro143Leu)not provided [RCV004763092]uncertain significanceX123253462123253462Humanname
408390067CV3524906single nucleotide variantNM_007325.5(GRIA3):c.761A>T (p.Asp254Val)not provided [RCV004769801]uncertain significanceX123394978123394978Humanname
408388200CV3527410single nucleotide variantNM_007325.5(GRIA3):c.332A>G (p.Asn111Ser)not provided [RCV004773713]uncertain significanceX123253366123253366Humanname
596928517CV3540436single nucleotide variantNM_007325.5(GRIA3):c.447T>G (p.Ile149Met)Syndromic X-linked intellectual disability 94 [RCV004794763]uncertain significanceX123253481123253481Human1name
597833549CV3735018single nucleotide variantNM_007325.5(GRIA3):c.474G>C (p.Trp158Cys)not provided [RCV005054751]uncertain significanceX123253508123253508Humanname
597876772CV3766688single nucleotide variantNM_007325.5(GRIA3):c.983G>A (p.Arg328Gln)not provided [RCV005108628]uncertain significanceX123398706123398706Humanname
597926322CV3778479deletionNM_000828.5(GRIA3):c.2362del (p.Gln788fs)not provided [RCV005131002]uncertain significanceX123465711123465711Humanname
597898412CV3782531single nucleotide variantNM_007325.5(GRIA3):c.772G>T (p.Glu258Ter)not provided [RCV005126756]uncertain significanceX123394989123394989Humanname
597887334CV3787573single nucleotide variantNM_007325.5(GRIA3):c.599A>G (p.Gln200Arg)not provided [RCV005125139]uncertain significanceX123326116123326116Humanname
597889076CV3788044single nucleotide variantNM_007325.5(GRIA3):c.904C>A (p.Pro302Thr)not provided [RCV005125402]uncertain significanceX123395121123395121Humanname
597866327CV3802816single nucleotide variantNM_007325.5(GRIA3):c.329T>G (p.Met110Arg)not provided [RCV005147603]uncertain significanceX123253363123253363Humanname
597867057CV3802944single nucleotide variantNM_007325.5(GRIA3):c.764T>C (p.Ile255Thr)not provided [RCV005147731]uncertain significanceX123394981123394981Humanname
597921289CV3808027single nucleotide variantNM_007325.5(GRIA3):c.674G>A (p.Arg225Lys)not provided [RCV005155735]uncertain significanceX123326191123326191Humanname
597970676CV3832580single nucleotide variantNM_007325.5(GRIA3):c.862G>C (p.Val288Leu)not provided [RCV005166659]uncertain significanceX123395079123395079Humanname
597912317CV3834243single nucleotide variantNM_007325.5(GRIA3):c.413T>C (p.Val138Ala)not provided [RCV005183005]uncertain significanceX123253447123253447Humanname
597883428CV3834772single nucleotide variantNM_007325.5(GRIA3):c.545T>C (p.Val182Ala)not provided [RCV005178495]uncertain significanceX123326062123326062Humanname
616933819CV4011785single nucleotide variantNM_007325.5(GRIA3):c.595G>T (p.Val199Phe)not specified [RCV005408334]uncertain significanceX123326112123326112Humanname
12907175CV415737single nucleotide variantNM_007325.5(GRIA3):c.527C>T (p.Ala176Val)Syndromic X-linked intellectual disability 94 [RCV000764857]|not provided [RCV000490127]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX123326044123326044Human1name
14702443CV626290single nucleotide variantNM_007325.5(GRIA3):c.813G>C (p.Gln271His)Syndromic X-linked intellectual disability 94 [RCV000790924]|not provided [RCV003727827]uncertain significanceX123395030123395030Human1name
40815248CV971175single nucleotide variantNM_007325.5(GRIA3):c.812A>G (p.Gln271Arg)Syndromic X-linked intellectual disability 94 [RCV001262532]uncertain significanceX123395029123395029Human1name
126742790CV1018892single nucleotide variantNM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp)Syndromic X-linked intellectual disability 94 [RCV001330039]uncertain significanceX123403435123403435Human1name
150529715CV1289397single nucleotide variantNM_007325.5(GRIA3):c.1979G>C (p.Arg660Thr)GRIA3-related complex neurodevelopmental disorder [RCV001728148]pathogenicX123428042123428042Humanname , trait
150530733CV1293496single nucleotide variantNM_007325.5(GRIA3):c.1259C>T (p.Ser420Leu)Inborn genetic diseases [RCV004980631]|not provided [RCV001756717]uncertain significanceX123403485123403485Human1name
150549023CV1294910single nucleotide variantNM_000828.5(GRIA3):c.2371T>A (p.Leu791Met)not provided [RCV001764871]uncertain significanceX123465720123465720Humanname
150551715CV1297531single nucleotide variantNM_007325.5(GRIA3):c.2197G>A (p.Ala733Thr)not provided [RCV001767215]uncertain significanceX123464985123464985Humanname
150549799CV1299660single nucleotide variantNM_007325.5(GRIA3):c.1036G>A (p.Val346Met)not provided [RCV001752586]uncertain significanceX123398759123398759Humanname
151348114CV1322380single nucleotide variantNM_007325.5(GRIA3):c.1358G>A (p.Gly453Asp)not provided [RCV001804185]likely pathogenicX123404772123404772Humanname
8658698CV132679single nucleotide variantNM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg)Syndromic X-linked intellectual disability 94 [RCV000115024]pathogenicX123427951123427951Human1name
151757882CV1336285single nucleotide variantNM_007325.5(GRIA3):c.1844C>T (p.Ala615Val)Syndromic X-linked intellectual disability 94 [RCV001849243]pathogenicX123417745123417745Human1name
151767526CV1341555single nucleotide variantNM_007325.5(GRIA3):c.2177G>A (p.Arg726Gln)not provided [RCV001874120]uncertain significanceX123464965123464965Humanname
151878845CV1359780single nucleotide variantNM_007325.5(GRIA3):c.1117G>A (p.Asp373Asn)not provided [RCV002036594]uncertain significanceX123403030123403030Humanname
151719493CV1373767single nucleotide variantNM_007325.5(GRIA3):c.1771C>T (p.Arg591Cys)GRIA3-related disorder [RCV004542156]|not provided [RCV001890864]uncertain significanceX123417672123417672Human1name , trait , alternate_id
151818992CV1385799single nucleotide variantNM_000828.5(GRIA3):c.2408G>T (p.Gly803Val)not provided [RCV002013184]uncertain significanceX123465757123465757Humanname
151764466CV1407674single nucleotide variantNM_007325.5(GRIA3):c.1613A>G (p.Gln538Arg)not provided [RCV002044639]uncertain significanceX123417514123417514Humanname
151885776CV1418190single nucleotide variantNM_007325.5(GRIA3):c.1263G>T (p.Glu421Asp)not provided [RCV001887424]uncertain significanceX123403489123403489Humanname
151889478CV1420167single nucleotide variantNM_007325.5(GRIA3):c.1198A>C (p.Asn400His)not provided [RCV002001302]uncertain significanceX123403424123403424Humanname
151721962CV1421883single nucleotide variantNM_007325.5(GRIA3):c.1310T>C (p.Met437Thr)not provided [RCV001909872]uncertain significanceX123404724123404724Humanname
151870670CV1477005single nucleotide variantNM_007325.5(GRIA3):c.2113T>G (p.Tyr705Asp)not provided [RCV001925165]uncertain significanceX123464901123464901Humanname
151778199CV1477006single nucleotide variantNM_007325.5(GRIA3):c.2135C>A (p.Ser712Tyr)not provided [RCV001896988]uncertain significanceX123464923123464923Humanname
151889551CV1479712single nucleotide variantNM_007325.5(GRIA3):c.1007G>C (p.Ser336Thr)not provided [RCV001888203]uncertain significanceX123398730123398730Humanname
152088452CV1519439single nucleotide variantNM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)Inborn genetic diseases [RCV002331657]|Syndromic X-linked intellectual disability 94 [RCV002077374]pathogenic|likely pathogenicX123403093123403093Human2name
152981442CV1676601single nucleotide variantNM_007325.5(GRIA3):c.1236A>C (p.Gln412His)Seizure [RCV002246195]|not provided [RCV003698886]likely benign|uncertain significanceX123403462123403462Human2name
155266160CV1695547single nucleotide variantNM_000828.5(GRIA3):c.2337C>A (p.Asn779Lys)not provided [RCV002280279]uncertain significanceX123465686123465686Humanname
155266161CV1695656single nucleotide variantNM_007325.5(GRIA3):c.1760A>G (p.Asn587Ser)See cases [RCV002287536]|Syndromic X-linked intellectual disability 94 [RCV004813204]|not provided [RCV002280387]uncertain significanceX123417661123417661Human1name
155267255CV1699509single nucleotide variantNM_007325.5(GRIA3):c.1994T>C (p.Ile665Thr)not provided [RCV002283304]pathogenicX123428057123428057Humanname
155690518CV1775156single nucleotide variantNM_007325.5(GRIA3):c.2255C>T (p.Thr752Met)not provided [RCV002294863]uncertain significanceX123465043123465043Humanname
155700350CV1776108single nucleotide variantNM_007325.5(GRIA3):c.1142A>T (p.Tyr381Phe)not provided [RCV002299929]uncertain significanceX123403055123403055Humanname
155718615CV1778514single nucleotide variantNM_007325.5(GRIA3):c.2512G>T (p.Ala838Ser)not provided [RCV002296603]uncertain significanceX123482871123482871Humanname
155715083CV1834944single nucleotide variantNM_007325.5(GRIA3):c.1794T>A (p.Asp598Glu)Inborn genetic diseases [RCV002404239]uncertain significanceX123417695123417695Human1name
155748516CV1847175single nucleotide variantNM_007325.5(GRIA3):c.2132C>A (p.Pro711Gln)Inborn genetic diseases [RCV002417802]uncertain significanceX123464920123464920Human1name
155724759CV1851754single nucleotide variantNM_007325.5(GRIA3):c.2531T>C (p.Ile844Thr)Inborn genetic diseases [RCV002433168]|not provided [RCV003101934]likely benign|uncertain significanceX123482890123482890Human1name
155704040CV1852447single nucleotide variantNM_007325.5(GRIA3):c.1009G>A (p.Ala337Thr)Inborn genetic diseases [RCV002428915]|not provided [RCV003102108]uncertain significanceX123398732123398732Human1name
155798189CV1859640single nucleotide variantNM_007325.5(GRIA3):c.1261G>C (p.Glu421Gln)Syndromic X-linked intellectual disability 94 [RCV002465432]uncertain significanceX123403487123403487Human1name
155798345CV1861957single nucleotide variantNM_007325.5(GRIA3):c.1544G>A (p.Arg515His)Syndromic X-linked intellectual disability 94 [RCV002471360]likely pathogenicX123417445123417445Human1name
156372111CV1878385single nucleotide variantNM_007325.5(GRIA3):c.1349G>A (p.Arg450Gln)not provided [RCV003066376]uncertain significanceX123404763123404763Humanname
10049160CV195912single nucleotide variantNM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)GRIA3-related disorder [RCV004539693]|Inborn genetic diseases [RCV002314670]|Syndromic X-linked intellectual disability 94 [RCV000990937]|not provided [RCV000913034]|not specified [RCV000180188]benign|likely benign|conflicting interpretations of pathogenicityX123403094123403094Human2name , trait , alternate_id
156392278CV1986392single nucleotide variantNM_007325.5(GRIA3):c.1237A>G (p.Ile413Val)not provided [RCV002604782]uncertain significanceX123403463123403463Humanname
156370261CV2007674single nucleotide variantNM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln)Syndromic X-linked intellectual disability 94 [RCV003134475]|not provided [RCV002676844]uncertain significanceX123464959123464959Human1name
155942198CV2055070single nucleotide variantNM_000828.5(GRIA3):c.2365G>T (p.Gly789Cys)not provided [RCV002815767]uncertain significanceX123465714123465714Humanname
156146392CV2128183single nucleotide variantNM_007325.5(GRIA3):c.1982T>C (p.Met661Thr)not provided [RCV002928749]likely pathogenic|uncertain significanceX123428045123428045Humanname
156023945CV2145496single nucleotide variantNM_007325.5(GRIA3):c.2567G>A (p.Arg856His)not provided [RCV003018363]uncertain significanceX123482926123482926Humanname
155986169CV2159718single nucleotide variantNM_007325.5(GRIA3):c.1978A>G (p.Arg660Gly)not provided [RCV003034107]uncertain significanceX123428041123428041Humanname
156199949CV2169738single nucleotide variantNM_007325.5(GRIA3):c.1990C>T (p.Pro664Ser)not provided [RCV003041935]uncertain significanceX123428053123428053Humanname
156197534CV2186838single nucleotide variantNM_007325.5(GRIA3):c.2600A>G (p.Lys867Arg)not provided [RCV003058045]uncertain significanceX123482959123482959Humanname
156246201CV2192474single nucleotide variantNM_007325.5(GRIA3):c.2605G>A (p.Ala869Thr)not provided [RCV003059842]uncertain significanceX123482964123482964Humanname
243051527CV2403909single nucleotide variantNM_007325.5(GRIA3):c.2116A>G (p.Met706Val)not provided [RCV003128983]uncertain significanceX123464904123464904Humanname
329384455CV2472855single nucleotide variantNM_007325.5(GRIA3):c.2591A>G (p.Gln864Arg)not provided [RCV003214157]uncertain significanceX123482950123482950Humanname
329846742CV2523888single nucleotide variantNM_007325.5(GRIA3):c.1679T>C (p.Val560Ala)Syndromic X-linked intellectual disability 94 [RCV003226590]uncertain significanceX123417580123417580Human1name
329846743CV2523889single nucleotide variantNM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)Syndromic X-linked intellectual disability 94 [RCV003226591]pathogenicX123428020123428020Human1name
329846745CV2523890single nucleotide variantNM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)Syndromic X-linked intellectual disability 94 [RCV003226592]likely pathogenicX123428036123428036Human1name
329846757CV2523899single nucleotide variantNM_007325.5(GRIA3):c.1531A>G (p.Ile511Val)Syndromic X-linked intellectual disability 94 [RCV003226601]uncertain significanceX123417432123417432Human1name
329846758CV2523900single nucleotide variantNM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg)Syndromic X-linked intellectual disability 94 [RCV003226602]uncertain significanceX123417482123417482Human1name
8561614CV25395single nucleotide variantNM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)Syndromic X-linked intellectual disability 94 [RCV000011069]|not provided [RCV004719636]pathogenicX123482856123482856Human1name
8561615CV25396single nucleotide variantNM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser)Syndromic X-linked intellectual disability 94 [RCV000011070]pathogenicX123427954123427954Human1name
8561616CV25397single nucleotide variantNM_007325.5(GRIA3):c.2117T>C (p.Met706Thr)Syndromic X-linked intellectual disability 94 [RCV000011071]pathogenicX123464905123464905Human1name
329954056CV2669390single nucleotide variantNM_007325.5(GRIA3):c.1760A>T (p.Asn587Ile)not provided [RCV003231898]uncertain significanceX123417661123417661Humanname
401739220CV2738506single nucleotide variantNM_007325.5(GRIA3):c.2126C>T (p.Ala709Val)not specified [RCV003317898]uncertain significanceX123464914123464914Humanname
401796262CV2740468single nucleotide variantNM_007325.5(GRIA3):c.1737T>A (p.Tyr579Ter)not provided [RCV003321138]uncertain significanceX123417638123417638Humanname
401830471CV2748173single nucleotide variantNM_007325.5(GRIA3):c.2636C>T (p.Thr879Ile)not provided [RCV003329780]uncertain significanceX123482995123482995Humanname
401860234CV2751949single nucleotide variantNM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)Syndromic X-linked intellectual disability 94 [RCV003335832]|not provided [RCV005416715]pathogenic|likely pathogenicX123428012123428012Human1name
401926149CV2803423single nucleotide variantNM_007325.5(GRIA3):c.1172G>C (p.Ser391Thr)GRIA3-related disorder [RCV004528004]uncertain significanceX123403085123403085Humanname , trait , alternate_id
401924921CV2805065single nucleotide variantNM_007325.5(GRIA3):c.2476G>A (p.Gly826Ser)not specified [RCV003404884]uncertain significanceX123482835123482835Humanname
401914588CV2830757single nucleotide variantNM_007325.5(GRIA3):c.1852C>A (p.Gln618Lys)not provided [RCV003442495]uncertain significanceX123417753123417753Humanname
401944985CV2840777single nucleotide variantNM_007325.5(GRIA3):c.2262A>C (p.Lys754Asn)not provided [RCV003457620]uncertain significanceX123465050123465050Humanname
404977370CV2850195single nucleotide variantNM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)Syndromic X-linked intellectual disability 94 [RCV003486103]uncertain significanceX123465748123465748Human1name
405019557CV2866211single nucleotide variantNM_007325.5(GRIA3):c.2642G>C (p.Arg881Thr)Inborn genetic diseases [RCV004634275]|not provided [RCV003577473]uncertain significanceX123483001123483001Human1name
405205950CV2873809single nucleotide variantNM_007325.5(GRIA3):c.2471T>C (p.Val824Ala)not provided [RCV003551941]uncertain significanceX123482830123482830Humanname
405169565CV2911829single nucleotide variantNM_007325.5(GRIA3):c.1210A>G (p.Arg404Gly)not provided [RCV003563010]uncertain significanceX123403436123403436Humanname
405207185CV2913606single nucleotide variantNM_007325.5(GRIA3):c.2621C>G (p.Thr874Ser)not provided [RCV003566599]uncertain significanceX123482980123482980Humanname
402464567CV2916337single nucleotide variantNM_007325.5(GRIA3):c.1781A>G (p.Gln594Arg)not provided [RCV003569041]uncertain significanceX123417682123417682Humanname
405100525CV2947895single nucleotide variantNM_007325.5(GRIA3):c.1891C>T (p.Arg631Cys)not provided [RCV003665972]uncertain significanceX123427954123427954Humanname
405148704CV2959501single nucleotide variantNM_007325.5(GRIA3):c.1200T>G (p.Asn400Lys)not provided [RCV003673844]uncertain significanceX123403426123403426Humanname
405234810CV2972446single nucleotide variantNM_007325.5(GRIA3):c.2021A>G (p.Gln674Arg)not provided [RCV003682857]uncertain significanceX123428084123428084Humanname
405222334CV2976277single nucleotide variantNM_007325.5(GRIA3):c.1076A>T (p.Lys359Ile)not provided [RCV003680882]uncertain significanceX123398799123398799Humanname
405217222CV2978300single nucleotide variantNM_007325.5(GRIA3):c.2189G>A (p.Gly730Glu)not provided [RCV003709476]uncertain significanceX123464977123464977Humanname
404981541CV2986149single nucleotide variantNM_007325.5(GRIA3):c.2648G>T (p.Gly883Val)not provided [RCV003691310]uncertain significanceX123483007123483007Humanname
405008272CV3006634single nucleotide variantNM_007325.5(GRIA3):c.1115T>C (p.Phe372Ser)not provided [RCV003693766]uncertain significanceX123403028123403028Humanname
405222254CV3038733single nucleotide variantNM_007325.5(GRIA3):c.2231T>C (p.Ile744Thr)not provided [RCV003710149]uncertain significanceX123465019123465019Humanname
405094932CV3045551single nucleotide variantNM_007325.5(GRIA3):c.1220C>T (p.Pro407Leu)not provided [RCV003717969]uncertain significanceX123403446123403446Humanname
405209974CV3062179single nucleotide variantNM_007325.5(GRIA3):c.1786C>A (p.Pro596Thr)not provided [RCV003731862]uncertain significanceX123417687123417687Humanname
405079128CV3137077single nucleotide variantNM_007325.5(GRIA3):c.2602C>A (p.Pro868Thr)not provided [RCV003833976]uncertain significanceX123482961123482961Humanname
405245875CV3162152single nucleotide variantNM_007325.5(GRIA3):c.1268G>A (p.Arg423Gln)not provided [RCV003868671]uncertain significanceX123403494123403494Humanname
405004494CV3184558single nucleotide variantNM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)Syndromic X-linked intellectual disability 94 [RCV003883347]pathogenicX123465708123465708Human1name
405267947CV3186942single nucleotide variantNM_007325.5(GRIA3):c.2097C>G (p.Tyr699Ter)not provided [RCV003887025]likely pathogenicX123464885123464885Humanname
405273281CV3197744single nucleotide variantNM_000828.5(GRIA3):c.2396G>T (p.Trp799Leu)GRIA3-related disorder [RCV004531922]likely pathogenicX123465745123465745Humanname , trait , alternate_id
405267009CV3202102single nucleotide variantNM_007325.5(GRIA3):c.1594A>G (p.Ile532Val)GRIA3-related disorder [RCV004536914]uncertain significanceX123417495123417495Humanname , trait , alternate_id
405745356CV3226265single nucleotide variantNM_007325.5(GRIA3):c.1367T>C (p.Val456Ala)Syndromic X-linked intellectual disability 94 [RCV003991256]uncertain significanceX123404781123404781Human1name
405852347CV3395940single nucleotide variantNM_007325.5(GRIA3):c.1373T>C (p.Leu458Pro)Syndromic X-linked intellectual disability 94 [RCV004556959]likely pathogenicX123404787123404787Human1name
407427163CV3410500single nucleotide variantNM_007325.5(GRIA3):c.1010C>G (p.Ala337Gly)not specified [RCV004586147]uncertain significanceX123398733123398733Humanname
408368298CV3509958single nucleotide variantNM_000828.5(GRIA3):c.2437A>C (p.Lys813Gln)GRIA3-related disorder [RCV004735026]uncertain significanceX123465786123465786Humanname , trait , alternate_id
408394674CV3518244single nucleotide variantNM_000828.5(GRIA3):c.2392T>C (p.Trp798Arg)Syndromic X-linked intellectual disability 94 [RCV004759567]uncertain significanceX123465741123465741Human1name
408385843CV3520380single nucleotide variantNM_007325.5(GRIA3):c.1324C>T (p.His442Tyr)not provided [RCV004760201]uncertain significanceX123404738123404738Humanname
408392240CV3525165single nucleotide variantNM_007325.5(GRIA3):c.1676T>C (p.Ile559Thr)not provided [RCV004771051]uncertain significanceX123417577123417577Humanname
408391342CV3527965single nucleotide variantNM_007325.5(GRIA3):c.1470G>A (p.Trp490Ter)not provided [RCV004775237]uncertain significanceX123404884123404884Humanname
596927512CV3541110single nucleotide variantNM_007325.5(GRIA3):c.2258T>A (p.Met753Lys)Syndromic X-linked intellectual disability 94 [RCV004796981]uncertain significanceX123465046123465046Human1name
596947578CV3549137single nucleotide variantNM_007325.5(GRIA3):c.2582A>G (p.Lys861Arg)not provided [RCV004811461]uncertain significanceX123482941123482941Humanname
596939050CV3550264single nucleotide variantNM_007325.5(GRIA3):c.2359G>A (p.Glu787Lys)Developmental and epileptic encephalopathy [RCV004813566]pathogenicX123480097123480097Human1name
597633323CV3552982single nucleotide variantNM_007325.5(GRIA3):c.1211G>C (p.Arg404Thr)not provided [RCV004823812]uncertain significanceX123403437123403437Humanname
597681142CV3678560single nucleotide variantNM_007325.5(GRIA3):c.1795C>G (p.Pro599Ala)Inborn genetic diseases [RCV004982788]|not provided [RCV005110327]uncertain significanceX123417696123417696Human1name
597681147CV3678561single nucleotide variantNM_007325.5(GRIA3):c.2656G>A (p.Val886Met)Inborn genetic diseases [RCV004982789]uncertain significanceX123483015123483015Human1name
597716850CV3733298single nucleotide variantNM_007325.5(GRIA3):c.1543C>T (p.Arg515Cys)not provided [RCV005052488]uncertain significanceX123417444123417444Humanname
597870855CV3768238single nucleotide variantNM_007325.5(GRIA3):c.1216G>A (p.Val406Met)not provided [RCV005122617]uncertain significanceX123403442123403442Humanname
597875003CV3775568single nucleotide variantNM_000828.5(GRIA3):c.2407G>A (p.Gly803Arg)not provided [RCV005123298]uncertain significanceX123465756123465756Humanname
12849225CV377731single nucleotide variantNM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)Disrupted sleep-wake cycle with developmental delay and learning difficulty [RCV000579220]|Inborn genetic diseases [RCV002318435]|Syndromic X-linked intellectual disability 94 [RCV000990938]|not provided [RCV000426311]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged recordsX123428020123428020Human2name
597923912CV3777928single nucleotide variantNM_007325.5(GRIA3):c.1801A>G (p.Asn601Asp)not provided [RCV005130652]uncertain significanceX123417702123417702Humanname
597923929CV3777932single nucleotide variantNM_007325.5(GRIA3):c.1532T>C (p.Ile511Thr)not provided [RCV005130656]uncertain significanceX123417433123417433Humanname
12838706CV378874single nucleotide variantNM_007325.5(GRIA3):c.1999A>G (p.Ser667Gly)not provided [RCV000427441]uncertain significanceX123428062123428062Humanname
597954375CV3795767single nucleotide variantNM_007325.5(GRIA3):c.1528A>G (p.Thr510Ala)not provided [RCV005136777]uncertain significanceX123417429123417429Humanname
12849276CV379911single nucleotide variantNM_000828.5(GRIA3):c.2408G>A (p.Gly803Glu)GRIA3-related disorder [RCV000509420]|not provided [RCV000427181]likely pathogenic|not providedX123465757123465757Human1name , trait , alternate_id
597974574CV3802255single nucleotide variantNM_007325.5(GRIA3):c.2032G>T (p.Ala678Ser)not provided [RCV005144032]uncertain significanceX123428095123428095Humanname
597910533CV3830177single nucleotide variantNM_007325.5(GRIA3):c.1702G>A (p.Val568Ile)not provided [RCV005182747]uncertain significanceX123417603123417603Humanname
597961139CV3844063single nucleotide variantNM_000828.5(GRIA3):c.2366G>C (p.Gly789Ala)not provided [RCV005192909]uncertain significanceX123465715123465715Humanname
597901763CV3845489single nucleotide variantNM_007325.5(GRIA3):c.2053G>A (p.Gly685Ser)not provided [RCV005181299]uncertain significanceX123428116123428116Humanname
597935590CV3863753single nucleotide variantNM_007325.5(GRIA3):c.2678A>C (p.Lys893Thr)not provided [RCV005207566]uncertain significanceX123483037123483037Humanname
598124815CV3883692single nucleotide variantNM_000828.5(GRIA3):c.2368C>T (p.Leu790Phe)not provided [RCV005236046]uncertain significanceX123465717123465717Humanname
598127833CV3888341single nucleotide variantNM_007325.5(GRIA3):c.1972G>A (p.Val658Met)not provided [RCV005243027]uncertain significanceX123428035123428035Humanname
598222367CV3893870single nucleotide variantNM_007325.5(GRIA3):c.2479G>A (p.Val827Ile)not provided [RCV005257113]uncertain significanceX123482838123482838Humanname
598159975CV3897196single nucleotide variantNM_007325.5(GRIA3):c.1558G>A (p.Asp520Asn)not provided [RCV005368170]uncertain significanceX123417459123417459Humanname
617149206CV4017181single nucleotide variantNM_007325.5(GRIA3):c.2192A>G (p.Lys731Arg)not provided [RCV005416838]uncertain significanceX123464980123464980Humanname
617149344CV4021454single nucleotide variantNM_007325.5(GRIA3):c.1630G>A (p.Val544Ile)not provided [RCV005425423]uncertain significanceX123417531123417531Humanname
12902069CV411122single nucleotide variantNM_000828.5(GRIA3):c.2416G>A (p.Gly806Ser)not provided [RCV000486204]uncertain significanceX123465765123465765Humanname
12906979CV415738single nucleotide variantNM_007325.5(GRIA3):c.1130G>A (p.Arg377His)not provided [RCV000489881]conflicting interpretations of pathogenicity|uncertain significanceX123403043123403043Humanname
13210924CV424674single nucleotide variantNM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)Syndromic X-linked intellectual disability 94 [RCV000496189]pathogenicX123428027123428027Human1name
13487070CV446489single nucleotide variantNM_007325.5(GRIA3):c.1991C>T (p.Pro664Leu)not provided [RCV000523115]uncertain significanceX123428054123428054Humanname
13479263CV446490single nucleotide variantNM_007325.5(GRIA3):c.2452G>A (p.Ala818Thr)not provided [RCV000520902]conflicting interpretations of pathogenicity|uncertain significanceX123482811123482811Humanname
13483740CV446491single nucleotide variantNM_007325.5(GRIA3):c.2470G>A (p.Val824Met)not provided [RCV000522137]uncertain significanceX123482829123482829Humanname
13519181CV486508single nucleotide variantNM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)Inborn genetic diseases [RCV002331001]|not provided [RCV000585447]benign|conflicting interpretations of pathogenicity|uncertain significanceX123403079123403079Human1name
13530439CV512575single nucleotide variantNM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr)Inborn genetic diseases [RCV000622505]likely pathogenicX123417403123417403Human1name
13532098CV512576single nucleotide variantNM_007325.5(GRIA3):c.1940C>T (p.Ser647Phe)Inborn genetic diseases [RCV000623912]uncertain significanceX123428003123428003Human1name
13531800CV512577single nucleotide variantNM_007325.5(GRIA3):c.1980G>C (p.Arg660Ser)Inborn genetic diseases [RCV000623641]uncertain significanceX123428043123428043Human1name
13532815CV512578single nucleotide variantNM_007325.5(GRIA3):c.2321T>C (p.Leu774Ser)Inborn genetic diseases [RCV000624569]|not provided [RCV001536339]likely pathogenic|uncertain significanceX123465109123465109Human1name
13794548CV552242single nucleotide variantNM_007325.5(GRIA3):c.2116A>C (p.Met706Leu)Syndromic X-linked intellectual disability 94 [RCV000679995]uncertain significanceX123464904123464904Human1name
13794549CV552243single nucleotide variantNM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu)Neurodevelopmental disorder [RCV001375008]|Syndromic X-linked intellectual disability 94 [RCV000679996]likely pathogenic|uncertain significanceX123480146123480146Human2name
13794528CV552244single nucleotide variantNM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile)Syndromic X-linked intellectual disability 94 [RCV000679971]uncertain significanceX123482806123482806Human1name
13830002CV580635single nucleotide variantNM_007325.5(GRIA3):c.1850T>C (p.Met617Thr)Inborn genetic diseases [RCV002318792]uncertain significanceX123417751123417751Human1name
13829838CV580759single nucleotide variantNM_007325.5(GRIA3):c.2219T>C (p.Met740Thr)Inborn genetic diseases [RCV002318626]|not provided [RCV003236839]uncertain significanceX123465007123465007Human1name
14981527CV613542single nucleotide variantNM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)Dystonic disorder [RCV001004013]|Epileptic encephalopathy [RCV001004014]|Intellectual disability [RCV000850209]|not provided [RCV003235385]pathogenic|likely pathogenic|uncertain significanceX123480065123480065Human12name
15124294CV743123single nucleotide variantNM_007325.5(GRIA3):c.1772G>A (p.Arg591His)not provided [RCV000896561]|not specified [RCV004997475]benign|likely benignX123417673123417673Humanname
21068859CV788948single nucleotide variantNM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala)Syndromic X-linked intellectual disability 94 [RCV000985029]uncertain significanceX123464977123464977Human1name
21075174CV798155single nucleotide variantNM_007325.5(GRIA3):c.1609C>G (p.Pro537Ala)not provided [RCV000996010]uncertain significanceX123417510123417510Humanname
28885260CV860775single nucleotide variantNM_007325.5(GRIA3):c.1780C>G (p.Gln594Glu)not provided [RCV001091710]uncertain significanceX123417681123417681Humanname
39456594CV965766single nucleotide variantNM_007325.5(GRIA3):c.1961C>T (p.Ala654Val)Global developmental delay [RCV001255420]likely pathogenicX123428024123428024Human2name
40814414CV969421single nucleotide variantNM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)Intellectual disability [RCV001260624]|Syndromic X-linked intellectual disability 94 [RCV003509662]|not provided [RCV002537607]likely pathogenic|uncertain significanceX123404762123404762Human3name
40814415CV969422single nucleotide variantNM_007325.5(GRIA3):c.1474G>A (p.Gly492Ser)Intellectual disability [RCV001260625]uncertain significanceX123404888123404888Human2name
40814412CV969423single nucleotide variantNM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)Intellectual disability [RCV001260622]|Seizure [RCV001849494]|not provided [RCV001556968]pathogenic|likely pathogenicX123427951123427951Human4name
40814413CV969424single nucleotide variantNM_007325.5(GRIA3):c.2575C>T (p.Leu859Phe)Intellectual disability [RCV001260623]|not provided [RCV002537606]likely benign|uncertain significanceX123482934123482934Human2name
40889600CV972700single nucleotide variantNM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)Neurodevelopmental abnormality [RCV001264709]|Syndromic X-linked intellectual disability 94 [RCV001843576]|not provided [RCV001570548]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significanceX123464886123464886Human3name
40886781CV974283single nucleotide variantNM_007325.5(GRIA3):c.1952A>G (p.Asn651Ser)Inborn genetic diseases [RCV001266022]uncertain significanceX123428015123428015Human1name
41406522CV983238single nucleotide variantNM_007325.5(GRIA3):c.2552G>A (p.Arg851Gln)not provided [RCV001288624]uncertain significanceX123482911123482911Humanname
8640357CV99342single nucleotide variantNM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg)Syndromic X-linked intellectual disability 94 [RCV002288578]|not provided [RCV000079321]uncertain significanceX123417602123417602Human1name
152088402CV1626159indelNM_007325.5(GRIA3):c.696+19_696+21delinsAACnot provided [RCV002131741]likely benignX123326232123326234Humanname
597876848CV3860182duplicationNM_007325.5(GRIA3):c.252_253dup (p.Ser85fs)not provided [RCV005198391]uncertain significanceX123185970123185971Humanname
405120313CV3027078indelNM_007325.5(GRIA3):c.2076+12_2076+13delinsAAnot provided [RCV003700650]uncertain significanceX123428151123428152Humanname
150545304CV1293114microsatelliteNM_007325.5(GRIA3):c.1755CAA[1] (p.Asn587del)Inborn genetic diseases [RCV002405288]|not provided [RCV001762900]uncertain significanceX123417655123417657Humanname
152983031CV1677875duplicationNM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs)Syndromic X-linked intellectual disability 94 [RCV002250029]pathogenicX123404863123404864Human1name
402483376CV3001360duplicationNM_007325.5(GRIA3):c.2603_2606dup (p.Pro870fs)not provided [RCV003686768]uncertain significanceX123482959123482960Humanname
405758515CV3234969deletionNM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)Syndromic X-linked intellectual disability 94 [RCV004017190]likely pathogenicX123403080123403083Human1name
14711903CV649660deletionNM_000828.5(GRIA3):c.2428_2431del (p.Gly810fs)not provided [RCV000819240]uncertain significanceX123465777123465780Humanname
151720528CV1420858inversionNM_007325.5(GRIA3):c.1200_1201inv (p.Glu401Lys)not provided [RCV002040010]uncertain significanceX123403426123403427Humanname
151350425CV1325337indelNM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)Syndromic X-linked intellectual disability 94 [RCV001814627]pathogenicX123428101123428103Humanname
155720497CV1840518deletionNM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del)Inborn genetic diseases [RCV002432661]likely pathogenicX123464950123464958Human1name
13521598CV495891deletionNM_007325.5(GRIA3):c.1608_1616del (p.Pro537_Lys539del)not provided [RCV000599581]likely pathogenicX123417505123417513Humanname
150546206CV1296163duplicationNM_007325.5(GRIA3):c.2291_2293dup (p.Tyr764_Gly765insAsp)not provided [RCV001763453]uncertain significanceX123465078123465079Humanname