| 9687294 | CV177756 | duplication | NM_000828.4(GRIA3):c.-2G= | Inborn genetic diseases [RCV002312678]|Syndromic X-linked intellectual disability 94 [RCV001701690]|not provided [RCV000711850]|not specified [RCV000153339] | benign | X | 123184533 | 123184534 | Human | 2 | name |
| 597884734 | CV3799652 | single nucleotide variant | NM_007325.5(GRIA3):c.-1C>T | not provided [RCV005150319] | uncertain significance | X | 123184535 | 123184535 | Human | | name |
| 150484113 | CV1247070 | single nucleotide variant | NM_007325.5(GRIA3):c.-17T>C | not provided [RCV001673566] | benign | X | 123184519 | 123184519 | Human | | name |
| 150514451 | CV1228226 | single nucleotide variant | NM_007325.5(GRIA3):c.*2+26T>G | not provided [RCV001638504] | benign | X | 123483072 | 123483072 | Human | | name |
| 150486895 | CV1262650 | deletion | NM_007325.5(GRIA3):c.*2+80del | not provided [RCV001687047] | benign | X | 123483112 | 123483112 | Human | | name |
| 150532362 | CV1299638 | single nucleotide variant | NM_007325.5(GRIA3):c.508+4A>C | not provided [RCV001752564] | uncertain significance | X | 123253546 | 123253546 | Human | | name |
| 151804156 | CV1362766 | single nucleotide variant | NM_007325.5(GRIA3):c.696+5G>A | Inborn genetic diseases [RCV002370682]|not provided [RCV002028371] | uncertain significance | X | 123326218 | 123326218 | Human | 1 | name |
| 151792826 | CV1399514 | single nucleotide variant | NM_007325.5(GRIA3):c.109+1G>A | not provided [RCV001898340] | uncertain significance | X | 123184645 | 123184645 | Human | | name |
| 151799341 | CV1430644 | single nucleotide variant | NM_007325.5(GRIA3):c.696+4C>T | not provided [RCV001877232] | uncertain significance | X | 123326217 | 123326217 | Human | | name |
| 152159843 | CV1522728 | single nucleotide variant | NM_007325.5(GRIA3):c.268+8G>T | not provided [RCV002140730] | likely benign | X | 123185998 | 123185998 | Human | | name |
| 152087240 | CV1574039 | duplication | NM_007325.5(GRIA3):c.509-8dup | not provided [RCV002150101] | likely benign | X | 123326016 | 123326017 | Human | | name |
| 153347914 | CV1694963 | single nucleotide variant | NM_007325.5(GRIA3):c.913-5T>G | not provided [RCV002278893] | uncertain significance | X | 123398631 | 123398631 | Human | | name |
| 156388170 | CV1995974 | single nucleotide variant | NM_007325.5(GRIA3):c.913-6T>A | not provided [RCV002654147] | likely benign | X | 123398630 | 123398630 | Human | | name |
| 156154327 | CV2049228 | single nucleotide variant | NM_007325.5(GRIA3):c.696+4C>A | not provided [RCV002801399] | uncertain significance | X | 123326217 | 123326217 | Human | | name |
| 329394836 | CV2472953 | single nucleotide variant | NM_007325.5(GRIA3):c.109+5G>A | not provided [RCV003218936] | uncertain significance | X | 123184649 | 123184649 | Human | | name |
| 402515156 | CV2856631 | single nucleotide variant | NM_007325.5(GRIA3):c.913-8C>T | not provided [RCV003575427] | likely benign | X | 123398628 | 123398628 | Human | | name |
| 405008630 | CV2926921 | single nucleotide variant | NM_007325.5(GRIA3):c.109+6C>T | not provided [RCV003576542] | uncertain significance | X | 123184650 | 123184650 | Human | | name |
| 408385816 | CV3520365 | single nucleotide variant | NM_007325.5(GRIA3):c.268+5G>A | not provided [RCV004760186] | uncertain significance | X | 123185995 | 123185995 | Human | | name |
| 597887781 | CV3787625 | single nucleotide variant | NM_007325.5(GRIA3):c.697-4G>T | not provided [RCV005125191] | likely benign | X | 123354906 | 123354906 | Human | | name |
| 150514373 | CV1211975 | single nucleotide variant | NM_007325.5(GRIA3):c.*2+311C>T | not provided [RCV001599044] | benign | X | 123483357 | 123483357 | Human | | name |
| 150499638 | CV1224625 | single nucleotide variant | NM_007325.5(GRIA3):c.751-42A>G | not provided [RCV001620456] | benign | X | 123394926 | 123394926 | Human | | name |
| 150457032 | CV1235284 | single nucleotide variant | NM_007325.5(GRIA3):c.696+35T>C | not provided [RCV001648700] | benign | X | 123326248 | 123326248 | Human | | name |
| 150485498 | CV1250239 | single nucleotide variant | NM_007325.5(GRIA3):c.268+75T>C | not provided [RCV001673852] | benign | X | 123186065 | 123186065 | Human | | name |
| 150491016 | CV1251122 | single nucleotide variant | NM_007325.5(GRIA3):c.697-29G>A | not provided [RCV001674790] | benign | X | 123354881 | 123354881 | Human | | name |
| 150489126 | CV1265363 | single nucleotide variant | NM_007325.5(GRIA3):c.913-15A>G | not provided [RCV001687399] | benign | X | 123398621 | 123398621 | Human | | name |
| 150439337 | CV1275150 | single nucleotide variant | NM_007325.5(GRIA3):c.751-16T>C | Syndromic X-linked intellectual disability 94 [RCV001703315]|not provided [RCV002077169] | benign | X | 123394952 | 123394952 | Human | 1 | name |
| 150482316 | CV1279954 | single nucleotide variant | NM_007325.5(GRIA3):c.1185+9C>A | not provided [RCV001715003] | benign | X | 123403107 | 123403107 | Human | | name |
| 150541961 | CV1295556 | single nucleotide variant | NM_007325.5(GRIA3):c.1185+5G>A | not provided [RCV001768488] | uncertain significance | X | 123403103 | 123403103 | Human | | name |
| 151233551 | CV1317124 | single nucleotide variant | NM_007325.5(GRIA3):c.110-43T>A | not provided [RCV001786945] | likely benign | X | 123185789 | 123185789 | Human | | name |
| 8659660 | CV134614 | single nucleotide variant | NM_007325.5(GRIA3):c.1501-8T>A | Syndromic X-linked intellectual disability 94 [RCV005229918]|not provided [RCV000514141]|not specified [RCV000117157] | benign|likely benign | X | 123417394 | 123417394 | Human | 1 | name |
| 152058684 | CV1535948 | single nucleotide variant | NM_007325.5(GRIA3):c.269-19T>C | not provided [RCV002146529] | likely benign | X | 123253284 | 123253284 | Human | | name |
| 152087191 | CV1578312 | single nucleotide variant | NM_007325.5(GRIA3):c.509-20G>C | not provided [RCV002171332] | likely benign | X | 123326006 | 123326006 | Human | | name |
| 152079914 | CV1649831 | single nucleotide variant | NM_007325.5(GRIA3):c.508+15C>T | not provided [RCV002092711] | likely benign | X | 123253557 | 123253557 | Human | | name |
| 152052973 | CV1665126 | single nucleotide variant | NM_007325.5(GRIA3):c.1293+7G>C | not provided [RCV002089388] | likely benign | X | 123403526 | 123403526 | Human | | name |
| 155746559 | CV1835206 | single nucleotide variant | NM_007325.5(GRIA3):c.1878-3T>C | Inborn genetic diseases [RCV002415227]|not provided [RCV002473379] | uncertain significance | X | 123427938 | 123427938 | Human | 1 | name |
| 156171171 | CV1956277 | single nucleotide variant | NM_007325.5(GRIA3):c.2076+3A>G | not provided [RCV002573815] | uncertain significance | X | 123428142 | 123428142 | Human | | name |
| 156293420 | CV1958629 | single nucleotide variant | NM_007325.5(GRIA3):c.110-12C>G | not provided [RCV002577922] | benign | X | 123185820 | 123185820 | Human | | name |
| 156406246 | CV1963534 | single nucleotide variant | NM_007325.5(GRIA3):c.912+14G>A | not provided [RCV002585840] | likely benign | X | 123395143 | 123395143 | Human | | name |
| 156273018 | CV2004251 | single nucleotide variant | NM_007325.5(GRIA3):c.109+11G>C | not provided [RCV002646595] | likely benign | X | 123184655 | 123184655 | Human | | name |
| 156099592 | CV2009669 | single nucleotide variant | NM_007325.5(GRIA3):c.109+20C>T | not provided [RCV002706617] | likely benign | X | 123184664 | 123184664 | Human | | name |
| 156173371 | CV2016260 | single nucleotide variant | NM_007325.5(GRIA3):c.110-17G>A | not provided [RCV002710550] | likely benign | X | 123185815 | 123185815 | Human | | name |
| 156234466 | CV2056214 | single nucleotide variant | NM_007325.5(GRIA3):c.508+17G>A | not provided [RCV002791120] | likely benign | X | 123253559 | 123253559 | Human | | name |
| 156031842 | CV2059179 | single nucleotide variant | NM_007325.5(GRIA3):c.2076+7G>A | not provided [RCV002796085] | likely benign | X | 123428146 | 123428146 | Human | | name |
| 155942634 | CV2068358 | single nucleotide variant | NM_007325.5(GRIA3):c.696+12A>G | not provided [RCV002839514] | likely benign | X | 123326225 | 123326225 | Human | | name |
| 155923685 | CV2073819 | single nucleotide variant | NM_007325.5(GRIA3):c.751-11T>C | not provided [RCV002838431] | likely benign | X | 123394957 | 123394957 | Human | | name |
| 156002536 | CV2103420 | single nucleotide variant | NM_007325.5(GRIA3):c.109+11G>A | not provided [RCV002908703] | likely benign | X | 123184655 | 123184655 | Human | | name |
| 156040167 | CV2143409 | single nucleotide variant | NM_007325.5(GRIA3):c.1294-3A>C | not provided [RCV002999487] | uncertain significance | X | 123404705 | 123404705 | Human | | name |
| 156023514 | CV2145468 | single nucleotide variant | NM_007325.5(GRIA3):c.912+17T>C | not provided [RCV003018344] | likely benign | X | 123395146 | 123395146 | Human | | name |
| 156193111 | CV2162304 | single nucleotide variant | NM_007325.5(GRIA3):c.697-18T>C | not provided [RCV003041714] | likely benign | X | 123354892 | 123354892 | Human | | name |
| 156074686 | CV2173410 | single nucleotide variant | NM_007325.5(GRIA3):c.1293+6T>C | not provided [RCV003053826] | uncertain significance | X | 123403525 | 123403525 | Human | | name |
| 156243984 | CV2173564 | single nucleotide variant | NM_007325.5(GRIA3):c.110-12C>T | not provided [RCV003043547] | likely benign | X | 123185820 | 123185820 | Human | | name |
| 402496812 | CV2875409 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+6G>A | not provided [RCV003545500] | uncertain significance | X | 123398809 | 123398809 | Human | | name |
| 404982145 | CV3121406 | single nucleotide variant | NM_007325.5(GRIA3):c.2077-8T>C | not provided [RCV003826205] | likely benign | X | 123464857 | 123464857 | Human | | name |
| 405020373 | CV3139140 | single nucleotide variant | NM_007325.5(GRIA3):c.269-20T>C | not provided [RCV003829782] | likely benign | X | 123253283 | 123253283 | Human | | name |
| 405138109 | CV3155047 | duplication | NM_007325.5(GRIA3):c.1501-4dup | not provided [RCV003855285] | benign | X | 123417390 | 123417391 | Human | | name |
| 402496704 | CV3179227 | single nucleotide variant | NM_007325.5(GRIA3):c.109+15G>C | not provided [RCV003877494] | likely benign | X | 123184659 | 123184659 | Human | | name |
| 408381096 | CV3501394 | single nucleotide variant | NM_007325.5(GRIA3):c.2077-1G>C | not provided [RCV004727483] | likely pathogenic | X | 123464864 | 123464864 | Human | | name |
| 597942547 | CV3786250 | single nucleotide variant | NM_007325.5(GRIA3):c.1294-4A>G | not provided [RCV005133941] | likely benign | X | 123404704 | 123404704 | Human | | name |
| 597953104 | CV3815912 | deletion | NM_007325.5(GRIA3):c.1501-4del | not provided [RCV005161664] | benign | X | 123417391 | 123417391 | Human | | name |
| 597843458 | CV3827308 | single nucleotide variant | NM_007325.5(GRIA3):c.2076+9T>C | not provided [RCV005172579] | likely benign | X | 123428148 | 123428148 | Human | | name |
| 597832934 | CV3831405 | single nucleotide variant | NM_007325.5(GRIA3):c.750+16T>C | not provided [RCV005170608] | likely benign | X | 123354979 | 123354979 | Human | | name |
| 15193874 | CV760860 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-5C>T | not provided [RCV000910964] | likely benign | X | 123482794 | 123482794 | Human | | name |
| 150332913 | CV1169934 | single nucleotide variant | NM_007325.5(GRIA3):c.269-141G>T | not provided [RCV001537071] | likely benign | X | 123253162 | 123253162 | Human | | name |
| 150336867 | CV1173541 | single nucleotide variant | NM_007325.5(GRIA3):c.509-244A>C | not provided [RCV001541243] | benign | X | 123325782 | 123325782 | Human | | name |
| 150404772 | CV1178665 | single nucleotide variant | NM_007325.5(GRIA3):c.913-183A>G | not provided [RCV001544570] | likely benign | X | 123398453 | 123398453 | Human | | name |
| 150422509 | CV1182050 | single nucleotide variant | NM_007325.5(GRIA3):c.1878-39C>T | not provided [RCV001552743] | likely benign | X | 123427902 | 123427902 | Human | | name |
| 150417368 | CV1195688 | duplication | NM_007325.5(GRIA3):c.109+164dup | not provided [RCV001568738] | likely benign | X | 123184802 | 123184803 | Human | | name |
| 150491298 | CV1210343 | single nucleotide variant | NM_007325.5(GRIA3):c.1293+70C>T | not provided [RCV001592625] | likely benign | X | 123403589 | 123403589 | Human | | name |
| 150440837 | CV1220223 | deletion | NM_007325.5(GRIA3):c.110-315del | not provided [RCV001610206] | benign | X | 123185509 | 123185509 | Human | | name |
| 150516094 | CV1228236 | deletion | NM_007325.5(GRIA3):c.696+173del | not provided [RCV001639042] | benign | X | 123326370 | 123326370 | Human | | name |
| 150430557 | CV1230938 | single nucleotide variant | NM_007325.5(GRIA3):c.696+170A>G | not provided [RCV001641487] | benign | X | 123326383 | 123326383 | Human | | name |
| 150432926 | CV1231593 | single nucleotide variant | NM_007325.5(GRIA3):c.508+249A>T | not provided [RCV001643255] | benign | X | 123253791 | 123253791 | Human | | name |
| 150435384 | CV1233845 | single nucleotide variant | NM_007325.5(GRIA3):c.268+171T>A | not provided [RCV001643972] | benign | X | 123186161 | 123186161 | Human | | name |
| 150489055 | CV1237581 | single nucleotide variant | NM_007325.5(GRIA3):c.269-218A>G | not provided [RCV001654430] | benign | X | 123253085 | 123253085 | Human | | name |
| 150470078 | CV1243266 | single nucleotide variant | NM_007325.5(GRIA3):c.1293+48C>T | not provided [RCV001650787] | benign | X | 123403567 | 123403567 | Human | | name |
| 150443414 | CV1264594 | duplication | NM_007325.5(GRIA3):c.1501-13dup | Syndromic X-linked intellectual disability 94 [RCV005232648]|not provided [RCV001679578] | benign | X | 123417381 | 123417382 | Human | 1 | name |
| 150460457 | CV1275824 | single nucleotide variant | NM_007325.5(GRIA3):c.109+274C>T | not provided [RCV001709762] | benign | X | 123184918 | 123184918 | Human | | name |
| 150534124 | CV1293138 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+21T>C | not provided [RCV001756356] | benign | X | 123398824 | 123398824 | Human | | name |
| 151759514 | CV1361737 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+13A>G | not provided [RCV001928345] | likely benign|uncertain significance | X | 123398816 | 123398816 | Human | | name |
| 151730299 | CV1517771 | single nucleotide variant | NM_007325.5(GRIA3):c.1081-38G>A | not provided [RCV002052386] | likely benign | X | 123402956 | 123402956 | Human | | name |
| 152068837 | CV1535236 | single nucleotide variant | NM_007325.5(GRIA3):c.1185+19C>T | not provided [RCV002091306] | likely benign | X | 123403117 | 123403117 | Human | | name |
| 152174147 | CV1536083 | single nucleotide variant | NM_007325.5(GRIA3):c.1294-20T>C | not provided [RCV002144342] | likely benign | X | 123404688 | 123404688 | Human | | name |
| 152085927 | CV1599344 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+20A>C | not provided [RCV002093482] | benign | X | 123398823 | 123398823 | Human | | name |
| 152110165 | CV1603406 | single nucleotide variant | NM_007325.5(GRIA3):c.1186-17A>G | not provided [RCV002096742] | likely benign | X | 123403395 | 123403395 | Human | | name |
| 152109069 | CV1604147 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-16T>C | not provided [RCV002079999] | likely benign | X | 123482783 | 123482783 | Human | | name |
| 152104779 | CV1609388 | deletion | NM_007325.5(GRIA3):c.1500+11del | not provided [RCV002115799] | benign | X | 123404920 | 123404920 | Human | | name |
| 152036649 | CV1609877 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-14T>C | not provided [RCV002165056] | likely benign | X | 123482785 | 123482785 | Human | | name |
| 152108228 | CV1648212 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-18G>A | not provided [RCV002116198] | likely benign | X | 123482781 | 123482781 | Human | | name |
| 152172557 | CV1660362 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+20A>G | not provided [RCV002162500] | likely benign | X | 123398823 | 123398823 | Human | | name |
| 156116947 | CV1972873 | single nucleotide variant | NM_007325.5(GRIA3):c.1877+19C>T | not provided [RCV002592984] | likely benign | X | 123417797 | 123417797 | Human | | name |
| 156103091 | CV2001223 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+15G>A | not provided [RCV002639655] | likely benign | X | 123398818 | 123398818 | Human | | name |
| 156324437 | CV2032281 | single nucleotide variant | NM_007325.5(GRIA3):c.1501-20T>C | not provided [RCV002717314] | likely benign | X | 123417382 | 123417382 | Human | | name |
| 156280517 | CV2054960 | single nucleotide variant | NM_007325.5(GRIA3):c.1186-10C>T | not provided [RCV002832824] | likely benign | X | 123403402 | 123403402 | Human | | name |
| 405169355 | CV2854166 | single nucleotide variant | NM_007325.5(GRIA3):c.2324+13A>C | not provided [RCV003542040] | likely benign | X | 123465125 | 123465125 | Human | | name |
| 405208812 | CV2919802 | single nucleotide variant | NM_007325.5(GRIA3):c.2076+18A>C | not provided [RCV003566863] | likely benign | X | 123428157 | 123428157 | Human | | name |
| 405179673 | CV3027712 | single nucleotide variant | NM_007325.5(GRIA3):c.1080+14T>C | not provided [RCV003705409] | likely benign | X | 123398817 | 123398817 | Human | | name |
| 405218637 | CV3034926 | single nucleotide variant | NM_007325.5(GRIA3):c.1185+10C>G | not provided [RCV003709651] | likely benign | X | 123403108 | 123403108 | Human | | name |
| 405109536 | CV3136844 | single nucleotide variant | NM_007325.5(GRIA3):c.1186-14T>A | not provided [RCV003835998] | likely benign | X | 123403398 | 123403398 | Human | | name |
| 405246683 | CV3158557 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-19C>T | not provided [RCV003868899] | likely benign | X | 123482780 | 123482780 | Human | | name |
| 405128931 | CV3163291 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-10T>C | not provided [RCV003854472] | likely benign | X | 123482789 | 123482789 | Human | | name |
| 597851708 | CV3758493 | single nucleotide variant | NM_007325.5(GRIA3):c.2076+19A>T | not provided [RCV005088051] | likely benign | X | 123428158 | 123428158 | Human | | name |
| 597898859 | CV3826688 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-19C>A | not provided [RCV005180821] | likely benign | X | 123482780 | 123482780 | Human | | name |
| 150410044 | CV1178666 | single nucleotide variant | NM_007325.5(GRIA3):c.1293+244G>A | not provided [RCV001546459] | likely benign | X | 123403763 | 123403763 | Human | | name |
| 150414434 | CV1178667 | single nucleotide variant | NM_007325.5(GRIA3):c.1877+139T>C | not provided [RCV001548125] | likely benign | X | 123417917 | 123417917 | Human | | name |
| 150414584 | CV1192440 | single nucleotide variant | NM_007325.5(GRIA3):c.2439+235C>T | not provided [RCV001567601] | likely benign | X | 123480412 | 123480412 | Human | | name |
| 150421269 | CV1199416 | duplication | NM_007325.5(GRIA3):c.1294-170dup | not provided [RCV001577963] | likely benign | X | 123404520 | 123404521 | Human | | name |
| 150432637 | CV1200729 | single nucleotide variant | NM_007325.5(GRIA3):c.1081-234A>G | not provided [RCV001581452] | likely benign | X | 123402760 | 123402760 | Human | | name |
| 150468945 | CV1207490 | single nucleotide variant | NM_007325.5(GRIA3):c.2440-262C>T | not provided [RCV001588179] | likely benign | X | 123482537 | 123482537 | Human | | name |
| 150513563 | CV1211306 | single nucleotide variant | NM_007325.5(GRIA3):c.1877+217T>C | not provided [RCV001598494] | likely benign | X | 123417995 | 123417995 | Human | | name |
| 150501545 | CV1213384 | single nucleotide variant | NM_007325.5(GRIA3):c.2076+158C>T | not provided [RCV001594796] | benign | X | 123428297 | 123428297 | Human | | name |
| 150459974 | CV1231262 | single nucleotide variant | NM_007325.5(GRIA3):c.1501-204C>G | not provided [RCV001640826] | benign | X | 123417198 | 123417198 | Human | | name |
| 150489285 | CV1250526 | deletion | NM_007325.5(GRIA3):c.1294-170del | not provided [RCV001674489] | benign | X | 123404521 | 123404521 | Human | | name |
| 405241402 | CV3004776 | single nucleotide variant | NM_007325.5(GRIA3):c.2324+686A>G | not provided [RCV003719282] | likely benign | X | 123465798 | 123465798 | Human | | name |
| 126730921 | CV1022132 | single nucleotide variant | NM_007325.5(GRIA3):c.268+16792G>A | Syndromic X-linked intellectual disability 94 [RCV001333569] | uncertain significance | X | 123202782 | 123202782 | Human | 1 | name |
| 10450199 | CV215613 | duplication | NM_007325.5(GRIA3):c.268+16757dup | Syndromic X-linked intellectual disability 94 [RCV000608382]|not specified [RCV000203157] | benign | X | 123202745 | 123202746 | Human | 1 | name |
| 408379714 | CV3505933 | duplication | NM_007325.5(GRIA3):c.268+16785dup | GRIA3-related disorder [RCV004728625] | uncertain significance | X | 123202774 | 123202775 | Human | | name , trait , alternate_id |
| 21073808 | CV792118 | duplication | NM_007325.5(GRIA3):c.268+16762dup | Syndromic X-linked intellectual disability 94 [RCV000990936]|not provided [RCV001726409]|not specified [RCV001699498] | benign|likely benign | X | 123202748 | 123202749 | Human | 1 | name |
| 8659658 | CV134612 | single nucleotide variant | NM_007325.5(GRIA3):c.15G>A (p.Lys5=) | Inborn genetic diseases [RCV002313886]|not provided [RCV000882979]|not specified [RCV000117155] | benign|likely benign|conflicting interpretations of pathogenicity | X | 123184550 | 123184550 | Human | 1 | name |
| 405026580 | CV3079336 | insertion | NM_007325.5(GRIA3):c.508+6_508+7insT | not provided [RCV003738831] | likely benign | X | 123253548 | 123253549 | Human | | name |
| 405026594 | CV3079337 | deletion | NM_007325.5(GRIA3):c.508+8_508+15del | not provided [RCV003738832] | likely benign | X | 123253550 | 123253557 | Human | | name |
| 126742796 | CV1018891 | single nucleotide variant | NM_007325.5(GRIA3):c.69G>A (p.Leu23=) | Syndromic X-linked intellectual disability 94 [RCV001330040]|not provided [RCV001859270] | likely benign|uncertain significance | X | 123184604 | 123184604 | Human | 1 | name |
| 152168237 | CV1547925 | single nucleotide variant | NM_007325.5(GRIA3):c.57C>A (p.Val19=) | GRIA3-related disorder [RCV004531521]|not provided [RCV002161064] | likely benign | X | 123184592 | 123184592 | Human | 1 | name , trait , alternate_id |
| 152154492 | CV1550592 | single nucleotide variant | NM_007325.5(GRIA3):c.87A>T (p.Gly29=) | not provided [RCV002139996] | benign | X | 123184622 | 123184622 | Human | | name |
| 153002194 | CV1685451 | deletion | NM_007325.5(GRIA3):c.1293+3_1293+6del | not provided [RCV002259437] | uncertain significance | X | 123403520 | 123403523 | Human | | name |
| 155902725 | CV2043714 | single nucleotide variant | NM_007325.5(GRIA3):c.42G>A (p.Ala14=) | not provided [RCV002771077] | likely benign | X | 123184577 | 123184577 | Human | | name |
| 405201144 | CV2873437 | single nucleotide variant | NM_007325.5(GRIA3):c.66T>G (p.Leu22=) | not provided [RCV003551398] | likely benign | X | 123184601 | 123184601 | Human | | name |
| 408393506 | CV3526163 | microsatellite | NM_007325.5(GRIA3):c.1185+5_1185+8del | Syndromic X-linked intellectual disability 94 [RCV004771595] | uncertain significance | X | 123403097 | 123403100 | Human | | name |
| 597848689 | CV3824140 | single nucleotide variant | NM_007325.5(GRIA3):c.42G>T (p.Ala14=) | not provided [RCV005173379] | likely benign | X | 123184577 | 123184577 | Human | | name |
| 597958775 | CV3848544 | single nucleotide variant | NM_007325.5(GRIA3):c.39G>A (p.Arg13=) | not provided [RCV005192245] | likely benign | X | 123184574 | 123184574 | Human | | name |
| 597903416 | CV3851510 | single nucleotide variant | NM_007325.5(GRIA3):c.5C>T (p.Ala2Val) | not provided [RCV005202287] | uncertain significance | X | 123184540 | 123184540 | Human | | name |
| 14397426 | CV613216 | single nucleotide variant | NM_007325.5(GRIA3):c.2T>C (p.Met1Thr) | Inborn genetic diseases [RCV002440590]|not provided [RCV000762665] | likely pathogenic|uncertain significance | X | 123184537 | 123184537 | Human | 1 | name |
| 151863468 | CV1365263 | single nucleotide variant | NM_007325.5(GRIA3):c.11A>T (p.Gln4Leu) | not provided [RCV002018057] | likely benign|uncertain significance | X | 123184546 | 123184546 | Human | | name |
| 151832356 | CV1396136 | single nucleotide variant | NM_007325.5(GRIA3):c.10C>A (p.Gln4Lys) | not provided [RCV001901934] | uncertain significance | X | 123184545 | 123184545 | Human | | name |
| 151863120 | CV1454343 | single nucleotide variant | NM_007325.5(GRIA3):c.14A>C (p.Lys5Thr) | not provided [RCV001938822] | uncertain significance | X | 123184549 | 123184549 | Human | | name |
| 152112003 | CV1520584 | single nucleotide variant | NM_007325.5(GRIA3):c.255C>T (p.Ser85=) | not provided [RCV002196899] | likely benign | X | 123185977 | 123185977 | Human | | name |
| 152050660 | CV1606958 | deletion | NM_007325.5(GRIA3):c.1293+8_1293+24del | not provided [RCV002108926]|not specified [RCV004587312] | likely benign|uncertain significance | X | 123403524 | 123403540 | Human | | name |
| 152164781 | CV1625602 | single nucleotide variant | NM_007325.5(GRIA3):c.285G>A (p.Ser95=) | Inborn genetic diseases [RCV002434520]|not provided [RCV002160318] | likely benign | X | 123253319 | 123253319 | Human | 1 | name |
| 152110894 | CV1651120 | single nucleotide variant | NM_007325.5(GRIA3):c.222C>T (p.His74=) | not provided [RCV002134470] | likely benign | X | 123185944 | 123185944 | Human | | name |
| 152111223 | CV1651278 | single nucleotide variant | NM_007325.5(GRIA3):c.153C>T (p.Phe51=) | not provided [RCV002134511] | likely benign | X | 123185875 | 123185875 | Human | | name |
| 152166282 | CV1661222 | single nucleotide variant | NM_007325.5(GRIA3):c.249T>C (p.Ser83=) | not provided [RCV002124194] | likely benign | X | 123185971 | 123185971 | Human | | name |
| 155685358 | CV1850149 | single nucleotide variant | NM_007325.5(GRIA3):c.20T>C (p.Met7Thr) | Inborn genetic diseases [RCV002424203] | uncertain significance | X | 123184555 | 123184555 | Human | 1 | name |
| 156211047 | CV1983375 | microsatellite | NM_007325.5(GRIA3):c.1501-11_1501-3del | not provided [RCV002626079] | likely benign | X | 123417377 | 123417385 | Human | | name |
| 156129759 | CV2036503 | single nucleotide variant | NM_007325.5(GRIA3):c.279G>A (p.Gln93=) | not provided [RCV002786123] | likely benign | X | 123253313 | 123253313 | Human | | name |
| 156233396 | CV2048857 | single nucleotide variant | NM_007325.5(GRIA3):c.132A>T (p.Thr44=) | not provided [RCV002791082] | likely benign | X | 123185854 | 123185854 | Human | | name |
| 156093701 | CV2087645 | single nucleotide variant | NM_007325.5(GRIA3):c.232T>C (p.Leu78=) | not provided [RCV002847815] | likely benign | X | 123185954 | 123185954 | Human | | name |
| 10404468 | CV208857 | single nucleotide variant | NM_007325.5(GRIA3):c.162C>T (p.Ala54=) | not provided [RCV003765222]|not specified [RCV000195146] | likely benign|uncertain significance | X | 123185884 | 123185884 | Human | | name |
| 402473464 | CV2908976 | single nucleotide variant | NM_007325.5(GRIA3):c.26A>C (p.Gln9Pro) | not provided [RCV003571004] | uncertain significance | X | 123184561 | 123184561 | Human | | name |
| 405104306 | CV3116693 | single nucleotide variant | NM_007325.5(GRIA3):c.147C>T (p.Ser49=) | not provided [RCV003812217] | likely benign | X | 123185869 | 123185869 | Human | | name |
| 405085479 | CV3167302 | single nucleotide variant | NM_007325.5(GRIA3):c.150T>C (p.Ala50=) | not provided [RCV003851883] | likely benign | X | 123185872 | 123185872 | Human | | name |
| 13215268 | CV430642 | single nucleotide variant | NM_007325.5(GRIA3):c.159T>C (p.Phe53=) | Inborn genetic diseases [RCV002404310]|not provided [RCV000881606]|not specified [RCV000502305] | benign|likely benign | X | 123185881 | 123185881 | Human | 1 | name |
| 15163890 | CV706089 | variation | NM_007325.5(GRIA3):c.2323= (p.Arg775=) | not provided [RCV000948201] | benign | X | 123465111 | 123465111 | Human | | name |
| 150462748 | CV1276124 | deletion | NM_007325.5(GRIA3):c.696+172_696+173del | not provided [RCV001710069] | benign | X | 123326370 | 123326371 | Human | | name |
| 151772644 | CV1367167 | single nucleotide variant | NM_007325.5(GRIA3):c.69G>C (p.Leu23Phe) | Inborn genetic diseases [RCV003382774]|not provided [RCV001988388] | likely benign|uncertain significance | X | 123184604 | 123184604 | Human | 1 | name |
| 151739904 | CV1381944 | single nucleotide variant | NM_007325.5(GRIA3):c.55G>A (p.Val19Ile) | not provided [RCV001968040] | uncertain significance | X | 123184590 | 123184590 | Human | | name |
| 151877988 | CV1415942 | single nucleotide variant | NM_007325.5(GRIA3):c.64C>A (p.Leu22Ile) | not provided [RCV001926067] | uncertain significance | X | 123184599 | 123184599 | Human | | name |
| 151739005 | CV1454669 | single nucleotide variant | NM_007325.5(GRIA3):c.378G>A (p.Thr126=) | not provided [RCV001946913] | likely benign | X | 123253412 | 123253412 | Human | | name |
| 151838049 | CV1501303 | single nucleotide variant | NM_007325.5(GRIA3):c.648A>G (p.Arg216=) | not provided [RCV001977364] | likely benign|uncertain significance | X | 123326165 | 123326165 | Human | | name |
| 152168403 | CV1525082 | single nucleotide variant | NM_007325.5(GRIA3):c.495T>C (p.Tyr165=) | not provided [RCV002182433] | likely benign | X | 123253529 | 123253529 | Human | | name |
| 152126316 | CV1527933 | single nucleotide variant | NM_007325.5(GRIA3):c.855G>A (p.Gln285=) | not provided [RCV002098867] | likely benign | X | 123395072 | 123395072 | Human | | name |
| 152147666 | CV1528643 | single nucleotide variant | NM_007325.5(GRIA3):c.717C>T (p.His239=) | not provided [RCV002101731] | likely benign | X | 123354930 | 123354930 | Human | | name |
| 152161663 | CV1534816 | single nucleotide variant | NM_007325.5(GRIA3):c.342C>T (p.Thr114=) | not provided [RCV002141023] | benign | X | 123253376 | 123253376 | Human | | name |
| 152041472 | CV1568420 | single nucleotide variant | NM_007325.5(GRIA3):c.441C>T (p.Gly147=) | not provided [RCV002107803] | likely benign | X | 123253475 | 123253475 | Human | | name |
| 152102759 | CV1591388 | single nucleotide variant | NM_007325.5(GRIA3):c.663C>T (p.Cys221=) | not provided [RCV002195761] | likely benign | X | 123326180 | 123326180 | Human | | name |
| 152149815 | CV1603918 | single nucleotide variant | NM_007325.5(GRIA3):c.396C>T (p.Asp132=) | not provided [RCV002220628] | likely benign | X | 123253430 | 123253430 | Human | | name |
| 152140373 | CV1613840 | single nucleotide variant | NM_007325.5(GRIA3):c.402T>C (p.Asp134=) | not provided [RCV002084075] | likely benign | X | 123253436 | 123253436 | Human | | name |
| 152073552 | CV1615458 | single nucleotide variant | NM_007325.5(GRIA3):c.378G>T (p.Thr126=) | not provided [RCV002091918] | likely benign | X | 123253412 | 123253412 | Human | | name |
| 152039167 | CV1616986 | single nucleotide variant | NM_007325.5(GRIA3):c.336C>A (p.Thr112=) | not provided [RCV002087697] | likely benign | X | 123253370 | 123253370 | Human | | name |
| 152139382 | CV1624966 | single nucleotide variant | NM_007325.5(GRIA3):c.444T>G (p.Ala148=) | not provided [RCV002219173] | likely benign | X | 123253478 | 123253478 | Human | | name |
| 152053158 | CV1651459 | single nucleotide variant | NM_007325.5(GRIA3):c.786T>C (p.His262=) | not provided [RCV002145932] | likely benign | X | 123395003 | 123395003 | Human | | name |
| 155644176 | CV1706966 | single nucleotide variant | NM_007325.5(GRIA3):c.43G>A (p.Val15Ile) | Inborn genetic diseases [RCV004973403]|not provided [RCV002290921] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 123184578 | 123184578 | Human | 1 | name |
| 155724073 | CV1799382 | single nucleotide variant | NM_007325.5(GRIA3):c.516C>T (p.Ser172=) | Inborn genetic diseases [RCV002338374] | likely benign | X | 123326033 | 123326033 | Human | 1 | name |
| 155797679 | CV1860425 | single nucleotide variant | NM_007325.5(GRIA3):c.68T>G (p.Leu23Trp) | not provided [RCV002467067] | uncertain significance | X | 123184603 | 123184603 | Human | | name |
| 156090970 | CV1919739 | single nucleotide variant | NM_007325.5(GRIA3):c.369C>T (p.Ser123=) | not provided [RCV002591909] | likely benign | X | 123253403 | 123253403 | Human | | name |
| 156123303 | CV1982867 | single nucleotide variant | NM_007325.5(GRIA3):c.561A>G (p.Gln187=) | not provided [RCV002623028] | likely benign | X | 123326078 | 123326078 | Human | | name |
| 155907686 | CV1983321 | single nucleotide variant | NM_007325.5(GRIA3):c.741C>T (p.Leu247=) | not provided [RCV002613769] | likely benign | X | 123354954 | 123354954 | Human | | name |
| 155937247 | CV2045029 | single nucleotide variant | NM_007325.5(GRIA3):c.426C>T (p.Arg142=) | not provided [RCV002774960] | likely benign | X | 123253460 | 123253460 | Human | | name |
| 156311464 | CV2107516 | single nucleotide variant | NM_007325.5(GRIA3):c.771G>A (p.Leu257=) | Syndromic X-linked intellectual disability 94 [RCV005045051]|not provided [RCV002937191] | likely benign|uncertain significance | X | 123394988 | 123394988 | Human | 1 | name |
| 156399981 | CV2185984 | single nucleotide variant | NM_007325.5(GRIA3):c.907C>T (p.Leu303=) | not provided [RCV003052220] | benign | X | 123395124 | 123395124 | Human | | name |
| 156402920 | CV2189623 | single nucleotide variant | NM_007325.5(GRIA3):c.969C>T (p.Tyr323=) | not provided [RCV003052493] | likely benign | X | 123398692 | 123398692 | Human | | name |
| 401929186 | CV2826935 | single nucleotide variant | NM_007325.5(GRIA3):c.519C>T (p.Ile173=) | not provided [RCV003439747] | likely benign | X | 123326036 | 123326036 | Human | | name |
| 405201165 | CV2873439 | single nucleotide variant | NM_007325.5(GRIA3):c.76T>A (p.Ser26Thr) | not provided [RCV003551400] | uncertain significance | X | 123184611 | 123184611 | Human | | name |
| 402478994 | CV2924887 | single nucleotide variant | NM_007325.5(GRIA3):c.73C>T (p.His25Tyr) | not provided [RCV003571867] | uncertain significance | X | 123184608 | 123184608 | Human | | name |
| 405058208 | CV2928916 | single nucleotide variant | NM_007325.5(GRIA3):c.882A>G (p.Glu294=) | not provided [RCV003580278] | likely benign | X | 123395099 | 123395099 | Human | | name |
| 402508045 | CV2941758 | single nucleotide variant | NM_007325.5(GRIA3):c.735C>T (p.Tyr245=) | not provided [RCV003662268] | likely benign | X | 123354948 | 123354948 | Human | | name |
| 402513244 | CV2942964 | single nucleotide variant | NM_007325.5(GRIA3):c.35T>C (p.Leu12Pro) | not provided [RCV003662737] | uncertain significance | X | 123184570 | 123184570 | Human | | name |
| 402492788 | CV2981312 | single nucleotide variant | NM_007325.5(GRIA3):c.684A>G (p.Thr228=) | not provided [RCV003713941] | likely benign | X | 123326201 | 123326201 | Human | | name |
| 405176763 | CV3023832 | single nucleotide variant | NM_007325.5(GRIA3):c.987A>C (p.Val329=) | not provided [RCV003705161] | likely benign | X | 123398710 | 123398710 | Human | | name |
| 405253666 | CV3044893 | single nucleotide variant | NM_007325.5(GRIA3):c.879G>A (p.Arg293=) | not provided [RCV003722636] | likely benign | X | 123395096 | 123395096 | Human | | name |
| 405162743 | CV3062740 | single nucleotide variant | NM_007325.5(GRIA3):c.64C>T (p.Leu22Phe) | not provided [RCV003727215] | likely benign | X | 123184599 | 123184599 | Human | | name |
| 405144503 | CV3126163 | single nucleotide variant | NM_007325.5(GRIA3):c.894C>T (p.Ala298=) | not provided [RCV003817079] | likely benign | X | 123395111 | 123395111 | Human | | name |
| 405144513 | CV3126164 | single nucleotide variant | NM_007325.5(GRIA3):c.906A>T (p.Pro302=) | not provided [RCV003817080] | likely benign | X | 123395123 | 123395123 | Human | | name |
| 405270015 | CV3215350 | single nucleotide variant | NM_007325.5(GRIA3):c.999G>A (p.Arg333=) | GRIA3-related disorder [RCV004542320] | likely benign | X | 123398722 | 123398722 | Human | | name , trait , alternate_id |
| 405757802 | CV3262511 | single nucleotide variant | NM_007325.5(GRIA3):c.38G>A (p.Arg13Gln) | Inborn genetic diseases [RCV004393729] | uncertain significance | X | 123184573 | 123184573 | Human | 1 | name |
| 407463100 | CV3433154 | single nucleotide variant | NM_007325.5(GRIA3):c.37C>T (p.Arg13Trp) | Inborn genetic diseases [RCV004634739] | likely benign | X | 123184572 | 123184572 | Human | 1 | name |
| 596943640 | CV3542904 | single nucleotide variant | NM_007325.5(GRIA3):c.70G>T (p.Gly24Cys) | not provided [RCV004798488] | uncertain significance | X | 123184605 | 123184605 | Human | | name |
| 597840320 | CV3737157 | single nucleotide variant | NM_007325.5(GRIA3):c.41C>T (p.Ala14Val) | not provided [RCV005064637] | uncertain significance | X | 123184576 | 123184576 | Human | | name |
| 597903038 | CV3741548 | single nucleotide variant | NM_007325.5(GRIA3):c.540A>G (p.Ala180=) | not provided [RCV005072519] | likely benign | X | 123326057 | 123326057 | Human | | name |
| 597947455 | CV3758968 | single nucleotide variant | NM_007325.5(GRIA3):c.483T>C (p.Phe161=) | not provided [RCV005078764] | likely benign | X | 123253517 | 123253517 | Human | | name |
| 597832606 | CV3760250 | single nucleotide variant | NM_007325.5(GRIA3):c.303C>T (p.Ile101=) | not provided [RCV005084993] | likely benign | X | 123253337 | 123253337 | Human | | name |
| 597972346 | CV3812924 | single nucleotide variant | NM_007325.5(GRIA3):c.357C>T (p.Ala119=) | not provided [RCV005167377] | likely benign | X | 123253391 | 123253391 | Human | | name |
| 597879475 | CV3826256 | single nucleotide variant | NM_007325.5(GRIA3):c.997C>A (p.Arg333=) | not provided [RCV005177952] | likely benign | X | 123398720 | 123398720 | Human | | name |
| 597843060 | CV3827248 | single nucleotide variant | NM_007325.5(GRIA3):c.339G>A (p.Leu113=) | not provided [RCV005172519] | likely benign | X | 123253373 | 123253373 | Human | | name |
| 597957593 | CV3838525 | single nucleotide variant | NM_007325.5(GRIA3):c.95A>T (p.Asn32Ile) | not provided [RCV005191900] | uncertain significance | X | 123184630 | 123184630 | Human | | name |
| 597897699 | CV3854418 | single nucleotide variant | NM_007325.5(GRIA3):c.798C>T (p.Asn266=) | not provided [RCV005201525] | likely benign | X | 123395015 | 123395015 | Human | | name |
| 13216434 | CV430643 | single nucleotide variant | NM_007325.5(GRIA3):c.585C>T (p.Asn195=) | not provided [RCV002527255]|not specified [RCV000503756] | likely benign | X | 123326102 | 123326102 | Human | | name |
| 15151103 | CV729382 | single nucleotide variant | NM_007325.5(GRIA3):c.390C>T (p.Pro130=) | Inborn genetic diseases [RCV002372504]|not provided [RCV000879524] | benign|likely benign | X | 123253424 | 123253424 | Human | 1 | name |
| 15146486 | CV743122 | single nucleotide variant | NM_007325.5(GRIA3):c.528G>A (p.Ala176=) | not provided [RCV000900332] | likely benign | X | 123326045 | 123326045 | Human | | name |
| 15160317 | CV758248 | single nucleotide variant | NM_007325.5(GRIA3):c.636G>A (p.Arg212=) | not provided [RCV000925460] | likely benign | X | 123326153 | 123326153 | Human | | name |
| 15136209 | CV758249 | single nucleotide variant | NM_007325.5(GRIA3):c.933C>T (p.His311=) | not provided [RCV000920974] | likely benign | X | 123398656 | 123398656 | Human | | name |
| 40887162 | CV974282 | single nucleotide variant | NM_007325.5(GRIA3):c.40G>A (p.Ala14Thr) | Inborn genetic diseases [RCV001266612]|not provided [RCV002285467] | uncertain significance | X | 123184575 | 123184575 | Human | 1 | name |
| 150508089 | CV1244733 | single nucleotide variant | NM_007325.5(GRIA3):c.2631T>C (p.Tyr877=) | not provided [RCV001658982] | likely benign | X | 123482990 | 123482990 | Human | | name |
| 150435898 | CV1275149 | duplication | NM_007325.5(GRIA3):c.384dup (p.Phe129fs) | Syndromic X-linked intellectual disability 94 [RCV001702201] | benign | X | 123253417 | 123253418 | Human | 1 | name |
| 150465994 | CV1277330 | single nucleotide variant | NM_007325.5(GRIA3):c.1326T>C (p.His442=) | not provided [RCV001710625] | benign|likely benign | X | 123404740 | 123404740 | Human | | name |
| 151235424 | CV1318737 | single nucleotide variant | NM_007325.5(GRIA3):c.123G>C (p.Met41Ile) | GRIA3-related complex neurodevelopmental disorder [RCV001795554] | uncertain significance | X | 123185845 | 123185845 | Human | | name , trait |
| 8659659 | CV134613 | single nucleotide variant | NM_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 benign | X | 123403426 | 123403426 | Human | 2 | name |
| 152112283 | CV1520738 | single nucleotide variant | NM_007325.5(GRIA3):c.2013A>G (p.Leu671=) | not provided [RCV002196937] | likely benign | X | 123428076 | 123428076 | Human | | name |
| 152046729 | CV1527191 | single nucleotide variant | NM_000828.5(GRIA3):c.2415C>T (p.Cys805=) | not provided [RCV002166358] | likely benign | X | 123465764 | 123465764 | Human | | name |
| 152125427 | CV1532339 | single nucleotide variant | NM_007325.5(GRIA3):c.2556A>G (p.Ala852=) | not provided [RCV002118392] | likely benign | X | 123482915 | 123482915 | Human | | name |
| 152158391 | CV1541990 | single nucleotide variant | NM_007325.5(GRIA3):c.2196C>T (p.Phe732=) | not provided [RCV002103316] | likely benign | X | 123464984 | 123464984 | Human | | name |
| 152076079 | CV1542728 | single nucleotide variant | NM_007325.5(GRIA3):c.2256G>A (p.Thr752=) | not provided [RCV002130236] | likely benign | X | 123465044 | 123465044 | Human | | name |
| 152168656 | CV1545451 | single nucleotide variant | NM_007325.5(GRIA3):c.2619C>T (p.Asn873=) | not provided [RCV002142521] | likely benign | X | 123482978 | 123482978 | Human | | name |
| 152027177 | CV1562528 | single nucleotide variant | NM_007325.5(GRIA3):c.1956C>T (p.Leu652=) | not provided [RCV002104805] | likely benign | X | 123428019 | 123428019 | Human | | name |
| 152051056 | CV1569183 | single nucleotide variant | NM_007325.5(GRIA3):c.2553G>A (p.Arg851=) | not provided [RCV002207528] | likely benign | X | 123482912 | 123482912 | Human | | name |
| 152103743 | CV1574667 | single nucleotide variant | NM_007325.5(GRIA3):c.1461T>G (p.Thr487=) | not provided [RCV002095869] | likely benign | X | 123404875 | 123404875 | Human | | name |
| 152067073 | CV1579097 | single nucleotide variant | NM_007325.5(GRIA3):c.1473C>T (p.Asn491=) | not provided [RCV002074595] | likely benign | X | 123404887 | 123404887 | Human | | name |
| 152129997 | CV1583984 | single nucleotide variant | NM_007325.5(GRIA3):c.1998G>A (p.Glu666=) | not provided [RCV002199191] | likely benign | X | 123428061 | 123428061 | Human | | name |
| 152059254 | CV1597528 | single nucleotide variant | NM_007325.5(GRIA3):c.1887C>T (p.Ser629=) | not provided [RCV002128146] | likely benign | X | 123427950 | 123427950 | Human | | name |
| 152172432 | CV1599123 | single nucleotide variant | NM_007325.5(GRIA3):c.2097C>T (p.Tyr699=) | Inborn genetic diseases [RCV002416499]|not provided [RCV002143776] | benign | X | 123464885 | 123464885 | Human | 1 | name |
| 152162924 | CV1606400 | single nucleotide variant | NM_007325.5(GRIA3):c.2604T>A (p.Pro868=) | not provided [RCV002181244] | likely benign | X | 123482963 | 123482963 | Human | | name |
| 152100612 | CV1606746 | single nucleotide variant | NM_007325.5(GRIA3):c.1431C>T (p.Asp477=) | not provided [RCV002195499] | likely benign | X | 123404845 | 123404845 | Human | | name |
| 152106299 | CV1609037 | single nucleotide variant | NM_000828.5(GRIA3):c.2421C>T (p.Ser807=) | not provided [RCV002096211] | likely benign | X | 123465770 | 123465770 | Human | | name |
| 152039558 | CV1617208 | single nucleotide variant | NM_007325.5(GRIA3):c.1710T>C (p.Leu570=) | not provided [RCV002087752] | likely benign | X | 123417611 | 123417611 | Human | | name |
| 155266721 | CV1699282 | single nucleotide variant | NM_007325.5(GRIA3):c.1629C>T (p.Gly543=) | not provided [RCV002283077] | uncertain significance | X | 123417530 | 123417530 | Human | | name |
| 155689499 | CV1826694 | single nucleotide variant | NM_007325.5(GRIA3):c.1422C>T (p.Ile474=) | Inborn genetic diseases [RCV002391844] | likely benign | X | 123404836 | 123404836 | Human | 1 | name |
| 156316473 | CV1901259 | single nucleotide variant | NM_007325.5(GRIA3):c.1113A>G (p.Gln371=) | not provided [RCV002578979] | likely benign | X | 123403026 | 123403026 | Human | | name |
| 156367059 | CV1902725 | single nucleotide variant | NM_007325.5(GRIA3):c.2127G>A (p.Ala709=) | not provided [RCV003092133] | benign | X | 123464915 | 123464915 | Human | | name |
| 156302598 | CV1916190 | single nucleotide variant | NM_007325.5(GRIA3):c.1317G>A (p.Lys439=) | not provided [RCV002599246] | likely benign | X | 123404731 | 123404731 | Human | | name |
| 156321215 | CV1968648 | single nucleotide variant | NM_007325.5(GRIA3):c.2655C>T (p.Asn885=) | not provided [RCV002630356] | likely benign | X | 123483014 | 123483014 | Human | | name |
| 156092805 | CV1994450 | single nucleotide variant | NM_007325.5(GRIA3):c.1530T>C (p.Thr510=) | not provided [RCV002639283] | likely benign | X | 123417431 | 123417431 | Human | | name |
| 156405525 | CV1994451 | single nucleotide variant | NM_007325.5(GRIA3):c.1837T>C (p.Leu613=) | not provided [RCV002658328] | benign | X | 123417738 | 123417738 | Human | | name |
| 156014466 | CV2013402 | single nucleotide variant | NM_007325.5(GRIA3):c.2160C>T (p.Asp720=) | not provided [RCV002735068] | likely benign | X | 123464948 | 123464948 | Human | | name |
| 156114036 | CV2018679 | single nucleotide variant | NM_007325.5(GRIA3):c.2112T>C (p.Ser704=) | not provided [RCV002695781] | likely benign | X | 123464900 | 123464900 | Human | | name |
| 156197638 | CV2034543 | single nucleotide variant | NM_007325.5(GRIA3):c.1389C>T (p.Ala463=) | not provided [RCV002766120] | likely benign | X | 123404803 | 123404803 | Human | | name |
| 156299237 | CV2069821 | single nucleotide variant | NM_007325.5(GRIA3):c.2238G>A (p.Gln746=) | not provided [RCV002833542] | likely benign | X | 123465026 | 123465026 | Human | | name |
| 156218047 | CV2081903 | single nucleotide variant | NM_007325.5(GRIA3):c.1965C>T (p.Phe655=) | not provided [RCV002894072] | likely benign | X | 123428028 | 123428028 | Human | | name |
| 156111045 | CV2082189 | single nucleotide variant | NM_007325.5(GRIA3):c.1380T>C (p.Tyr460=) | not provided [RCV002848455] | likely benign | X | 123404794 | 123404794 | Human | | name |
| 156217074 | CV2087228 | single nucleotide variant | NM_007325.5(GRIA3):c.1713C>T (p.Phe571=) | not provided [RCV002875718] | likely benign | X | 123417614 | 123417614 | Human | | name |
| 156207711 | CV2103840 | single nucleotide variant | NM_007325.5(GRIA3):c.1299A>G (p.Ser433=) | not provided [RCV002931931] | likely benign | X | 123404713 | 123404713 | Human | | name |
| 156300332 | CV2119469 | single nucleotide variant | NM_007325.5(GRIA3):c.1155G>A (p.Val385=) | not provided [RCV002962114] | likely benign | X | 123403068 | 123403068 | Human | | name |
| 155918463 | CV2152598 | single nucleotide variant | NM_007325.5(GRIA3):c.125G>A (p.Arg42Lys) | not provided [RCV002991780] | uncertain significance | X | 123185847 | 123185847 | Human | | name |
| 156311126 | CV2164100 | single nucleotide variant | NM_007325.5(GRIA3):c.1734T>A (p.Pro578=) | not provided [RCV003046036] | likely benign | X | 123417635 | 123417635 | Human | | name |
| 156366541 | CV2177085 | single nucleotide variant | NM_007325.5(GRIA3):c.1581C>T (p.Ser527=) | not provided [RCV003049385] | benign | X | 123417482 | 123417482 | Human | | name |
| 156379787 | CV2178959 | single nucleotide variant | NM_007325.5(GRIA3):c.287G>C (p.Arg96Thr) | not provided [RCV003050398] | uncertain significance | X | 123253321 | 123253321 | Human | | name |
| 401830961 | CV2748609 | single nucleotide variant | NM_007325.5(GRIA3):c.284C>T (p.Ser95Leu) | Syndromic X-linked intellectual disability 94 [RCV003330259] | likely benign | X | 123253318 | 123253318 | Human | 1 | name |
| 401929183 | CV2826934 | single nucleotide variant | NM_007325.5(GRIA3):c.232T>A (p.Leu78Met) | not provided [RCV003439746] | uncertain significance | X | 123185954 | 123185954 | Human | | name |
| 401929188 | CV2826936 | single nucleotide variant | NM_007325.5(GRIA3):c.1278A>T (p.Val426=) | not provided [RCV003439748] | likely benign | X | 123403504 | 123403504 | Human | | name |
| 405046181 | CV2859810 | single nucleotide variant | NM_007325.5(GRIA3):c.1359C>T (p.Gly453=) | not provided [RCV003579356] | likely benign | X | 123404773 | 123404773 | Human | | name |
| 402491979 | CV2863130 | single nucleotide variant | NM_007325.5(GRIA3):c.253T>C (p.Ser85Pro) | not provided [RCV003573105] | uncertain significance | X | 123185975 | 123185975 | Human | | name |
| 402518572 | CV2877233 | single nucleotide variant | NM_007325.5(GRIA3):c.1068A>G (p.Arg356=) | not provided [RCV003575675] | likely benign | X | 123398791 | 123398791 | Human | | name |
| 405112132 | CV2900411 | single nucleotide variant | NM_007325.5(GRIA3):c.1761T>C (p.Asn587=) | not provided [RCV003558029] | likely benign | X | 123417662 | 123417662 | Human | | name |
| 405060969 | CV2926284 | single nucleotide variant | NM_007325.5(GRIA3):c.1617A>G (p.Lys539=) | not provided [RCV003580470] | likely benign | X | 123417518 | 123417518 | Human | | name |
| 402489777 | CV2941700 | single nucleotide variant | NM_007325.5(GRIA3):c.1992C>T (p.Pro664=) | not provided [RCV003660382] | likely benign | X | 123428055 | 123428055 | Human | | name |
| 405069540 | CV2944765 | single nucleotide variant | NM_007325.5(GRIA3):c.1128A>T (p.Gly376=) | not provided [RCV003663898] | likely benign | X | 123403041 | 123403041 | Human | | name |
| 402484382 | CV2944878 | single nucleotide variant | NM_007325.5(GRIA3):c.1905G>A (p.Gly635=) | not provided [RCV003659935] | likely benign | X | 123427968 | 123427968 | Human | | name |
| 405126364 | CV2958462 | single nucleotide variant | NM_007325.5(GRIA3):c.163G>A (p.Val55Met) | not provided [RCV003667961] | uncertain significance | X | 123185885 | 123185885 | Human | | name |
| 405172798 | CV2961418 | single nucleotide variant | NM_007325.5(GRIA3):c.104G>A (p.Ser35Asn) | not provided [RCV003675492] | uncertain significance | X | 123184639 | 123184639 | Human | | name |
| 405231596 | CV2974533 | single nucleotide variant | NM_007325.5(GRIA3):c.2286A>G (p.Lys762=) | not provided [RCV003682347] | likely benign | X | 123465074 | 123465074 | Human | | name |
| 405245242 | CV3055011 | single nucleotide variant | NM_007325.5(GRIA3):c.1977G>A (p.Glu659=) | not provided [RCV003720236] | benign | X | 123428040 | 123428040 | Human | | name |
| 405205976 | CV3068294 | single nucleotide variant | NM_007325.5(GRIA3):c.2256G>C (p.Thr752=) | not provided [RCV003731314] | likely benign | X | 123465044 | 123465044 | Human | | name |
| 405113839 | CV3115357 | single nucleotide variant | NM_007325.5(GRIA3):c.1308A>G (p.Val436=) | not provided [RCV003814039] | likely benign | X | 123404722 | 123404722 | Human | | name |
| 405176984 | CV3119354 | single nucleotide variant | NM_007325.5(GRIA3):c.123G>A (p.Met41Ile) | Syndromic X-linked intellectual disability 94 [RCV004720401]|not provided [RCV003819639] | likely benign|uncertain significance | X | 123185845 | 123185845 | Human | 1 | name |
| 405042591 | CV3141235 | single nucleotide variant | NM_007325.5(GRIA3):c.2463G>C (p.Leu821=) | not provided [RCV003831528] | likely benign | X | 123482822 | 123482822 | Human | | name |
| 405232105 | CV3144549 | single nucleotide variant | NM_007325.5(GRIA3):c.1626A>G (p.Pro542=) | not provided [RCV003853002] | likely benign | X | 123417527 | 123417527 | Human | | name |
| 405232111 | CV3144550 | single nucleotide variant | NM_007325.5(GRIA3):c.2451C>T (p.Ser817=) | not provided [RCV003853003] | likely benign | X | 123482810 | 123482810 | Human | | name |
| 405139763 | CV3155183 | single nucleotide variant | NM_007325.5(GRIA3):c.2481T>C (p.Val827=) | not provided [RCV003855421] | likely benign | X | 123482840 | 123482840 | Human | | name |
| 405238068 | CV3165443 | single nucleotide variant | NM_007325.5(GRIA3):c.2052C>T (p.Ser684=) | not provided [RCV003866645] | likely benign | X | 123428115 | 123428115 | Human | | name |
| 408390273 | CV3525011 | deletion | NM_007325.5(GRIA3):c.887del (p.Pro296fs) | not provided [RCV004769906] | uncertain significance | X | 123395102 | 123395102 | Human | | name |
| 408385848 | CV3528710 | single nucleotide variant | NM_007325.5(GRIA3):c.257T>C (p.Val86Ala) | not provided [RCV004772543] | uncertain significance | X | 123185979 | 123185979 | Human | | name |
| 597906916 | CV3781403 | single nucleotide variant | NM_007325.5(GRIA3):c.1695A>G (p.Gly565=) | not provided [RCV005128091] | likely benign | X | 123417596 | 123417596 | Human | | name |
| 597898022 | CV3782505 | single nucleotide variant | NM_007325.5(GRIA3):c.1101T>C (p.Thr367=) | not provided [RCV005126730] | likely benign | X | 123403014 | 123403014 | Human | | name |
| 597930159 | CV3789263 | single nucleotide variant | NM_007325.5(GRIA3):c.1857A>G (p.Gln619=) | not provided [RCV005131544] | likely benign | X | 123417758 | 123417758 | Human | | name |
| 597962083 | CV3809074 | single nucleotide variant | NM_007325.5(GRIA3):c.1644G>C (p.Leu548=) | not provided [RCV005163976] | likely benign | X | 123417545 | 123417545 | Human | | name |
| 597942555 | CV3815602 | single nucleotide variant | NM_007325.5(GRIA3):c.2049C>T (p.Asp683=) | not provided [RCV005159291] | likely benign | X | 123428112 | 123428112 | Human | | name |
| 597965715 | CV3823559 | single nucleotide variant | NM_007325.5(GRIA3):c.1875A>G (p.Pro625=) | not provided [RCV005164979] | likely benign | X | 123417776 | 123417776 | Human | | name |
| 597970846 | CV3832648 | single nucleotide variant | NM_007325.5(GRIA3):c.1110T>C (p.Ile370=) | not provided [RCV005166727] | likely benign | X | 123403023 | 123403023 | Human | | name |
| 13540281 | CV507718 | single nucleotide variant | NM_007325.5(GRIA3):c.2502T>C (p.Gly834=) | not provided [RCV002060648]|not specified [RCV000614481] | likely benign | X | 123482861 | 123482861 | Human | | name |
| 13530472 | CV512574 | single nucleotide variant | NM_007325.5(GRIA3):c.159T>G (p.Phe53Leu) | Inborn genetic diseases [RCV000622531] | uncertain significance | X | 123185881 | 123185881 | Human | 1 | name |
| 13809748 | CV577931 | single nucleotide variant | NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) | Inborn genetic diseases [RCV002388355]|not provided [RCV000711849] | benign|likely benign | X | 123404854 | 123404854 | Human | 1 | name |
| 13829799 | CV580916 | single nucleotide variant | NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) | Inborn genetic diseases [RCV002318104]|Syndromic X-linked intellectual disability 94 [RCV002493279]|not provided [RCV000915624] | benign|likely benign | X | 123403038 | 123403038 | Human | 2 | name |
| 15123610 | CV758250 | single nucleotide variant | NM_007325.5(GRIA3):c.1158T>C (p.Tyr386=) | Inborn genetic diseases [RCV002354756]|not provided [RCV000918852] | likely benign | X | 123403071 | 123403071 | Human | 1 | name |
| 21075173 | CV798154 | single nucleotide variant | NM_007325.5(GRIA3):c.106A>G (p.Ile36Val) | Inborn genetic diseases [RCV004030198]|not provided [RCV000996009] | conflicting interpretations of pathogenicity|uncertain significance | X | 123184641 | 123184641 | Human | 1 | name |
| 127287005 | CV1152964 | single nucleotide variant | NM_007325.5(GRIA3):c.826G>C (p.Glu276Gln) | Syndromic X-linked intellectual disability 94 [RCV002564201]|not provided [RCV001507543] | uncertain significance | X | 123395043 | 123395043 | Human | 1 | name |
| 150339456 | CV1174883 | deletion | NM_007325.5(GRIA3):c.1672del (p.Cys558fs) | not provided [RCV001543518] | likely pathogenic | X | 123417573 | 123417573 | Human | | name |
| 150407810 | CV1178664 | single nucleotide variant | NM_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 significance | X | 123326164 | 123326164 | Human | 2 | name , trait , alternate_id |
| 150426648 | CV1189050 | single nucleotide variant | NM_007325.5(GRIA3):c.515C>G (p.Ser172Cys) | not provided [RCV001559844] | uncertain significance | X | 123326032 | 123326032 | Human | | name |
| 150431557 | CV1206389 | single nucleotide variant | NM_007325.5(GRIA3):c.419A>G (p.Gln140Arg) | Inborn genetic diseases [RCV002329692]|not provided [RCV001581038] | conflicting interpretations of pathogenicity|uncertain significance | X | 123253453 | 123253453 | Human | 1 | name |
| 150431600 | CV1206401 | deletion | NM_007325.5(GRIA3):c.1294-171_1294-170del | not provided [RCV001581050] | likely benign | X | 123404521 | 123404522 | Human | | name |
| 150531884 | CV1291463 | deletion | NM_007325.5(GRIA3):c.1294-176_1294-170del | not provided [RCV001733262] | likely benign | X | 123404521 | 123404527 | Human | | name |
| 150549139 | CV1294712 | single nucleotide variant | NM_007325.5(GRIA3):c.527C>A (p.Ala176Glu) | not provided [RCV001752204] | uncertain significance | X | 123326044 | 123326044 | Human | | name |
| 150555148 | CV1295966 | single nucleotide variant | NM_007325.5(GRIA3):c.976A>G (p.Arg326Gly) | not provided [RCV001772475] | uncertain significance | X | 123398699 | 123398699 | Human | | name |
| 150553137 | CV1298166 | single nucleotide variant | NM_007325.5(GRIA3):c.627G>A (p.Met209Ile) | not provided [RCV001768779] | uncertain significance | X | 123326144 | 123326144 | Human | | name |
| 150530978 | CV1299201 | single nucleotide variant | NM_007325.5(GRIA3):c.328A>G (p.Met110Val) | not provided [RCV001756894] | conflicting interpretations of pathogenicity|uncertain significance | X | 123253362 | 123253362 | Human | | name |
| 150549972 | CV1299758 | single nucleotide variant | NM_007325.5(GRIA3):c.842A>G (p.Gln281Arg) | not provided [RCV001752684] | uncertain significance | X | 123395059 | 123395059 | Human | | name |
| 150554614 | CV1304330 | single nucleotide variant | NM_007325.5(GRIA3):c.791G>A (p.Gly264Glu) | not provided [RCV001771300] | uncertain significance | X | 123395008 | 123395008 | Human | | name |
| 151235184 | CV1318445 | single nucleotide variant | NM_007325.5(GRIA3):c.913T>C (p.Tyr305His) | not provided [RCV001794768] | uncertain significance | X | 123398636 | 123398636 | Human | | name |
| 151663256 | CV1331020 | single nucleotide variant | NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser) | Syndromic X-linked intellectual disability 94 [RCV001825193]|not provided [RCV002034684] | uncertain significance|not provided | X | 123326126 | 123326126 | Human | 1 | name |
| 151767697 | CV1341252 | single nucleotide variant | NM_007325.5(GRIA3):c.403G>A (p.Val135Met) | GRIA3-related disorder [RCV004734295]|not provided [RCV001863773] | uncertain significance | X | 123253437 | 123253437 | Human | 1 | name , trait , alternate_id |
| 151855460 | CV1344593 | single nucleotide variant | NM_007325.5(GRIA3):c.742G>A (p.Ala248Thr) | Inborn genetic diseases [RCV004043374]|not provided [RCV001923337] | uncertain significance | X | 123354955 | 123354955 | Human | 1 | name |
| 151731875 | CV1355528 | single nucleotide variant | NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys) | Syndromic X-linked intellectual disability 94 [RCV002272557]|not provided [RCV001984291] | uncertain significance | X | 123253458 | 123253458 | Human | 1 | name |
| 151750533 | CV1381127 | single nucleotide variant | NM_007325.5(GRIA3):c.967T>C (p.Tyr323His) | Inborn genetic diseases [RCV002548221]|not provided [RCV002023330] | uncertain significance | X | 123398690 | 123398690 | Human | 1 | name |
| 151793315 | CV1390272 | single nucleotide variant | NM_007325.5(GRIA3):c.611G>A (p.Arg204His) | Inborn genetic diseases [RCV004043630]|not provided [RCV001952250] | likely benign|uncertain significance | X | 123326128 | 123326128 | Human | 1 | name |
| 151851355 | CV1391828 | single nucleotide variant | NM_007325.5(GRIA3):c.379C>G (p.Pro127Ala) | GRIA3-related disorder [RCV004536363]|not provided [RCV002033219] | uncertain significance | X | 123253413 | 123253413 | Human | 1 | name , trait , alternate_id |
| 151765181 | CV1393687 | single nucleotide variant | NM_007325.5(GRIA3):c.471G>C (p.Lys157Asn) | not provided [RCV002008304] | uncertain significance | X | 123253505 | 123253505 | Human | | name |
| 151828259 | CV1395948 | single nucleotide variant | NM_007325.5(GRIA3):c.430G>A (p.Ala144Thr) | Inborn genetic diseases [RCV002331655]|not provided [RCV002050466] | likely benign|uncertain significance | X | 123253464 | 123253464 | Human | 1 | name |
| 151805497 | CV1429904 | single nucleotide variant | NM_007325.5(GRIA3):c.587T>C (p.Ile196Thr) | Inborn genetic diseases [RCV003170327]|not provided [RCV001974296] | likely benign|uncertain significance | X | 123326104 | 123326104 | Human | 1 | name |
| 151794131 | CV1434215 | single nucleotide variant | NM_007325.5(GRIA3):c.670G>A (p.Glu224Lys) | not provided [RCV001866522] | uncertain significance | X | 123326187 | 123326187 | Human | | name |
| 151886529 | CV1435769 | single nucleotide variant | NM_007325.5(GRIA3):c.779T>A (p.Val260Asp) | not provided [RCV001962779] | uncertain significance | X | 123394996 | 123394996 | Human | | name |
| 151867389 | CV1447799 | single nucleotide variant | NM_007325.5(GRIA3):c.922G>T (p.Ala308Ser) | not provided [RCV001924774] | uncertain significance | X | 123398645 | 123398645 | Human | | name |
| 151819066 | CV1466095 | single nucleotide variant | NM_007325.5(GRIA3):c.832C>A (p.Pro278Thr) | not provided [RCV001900700] | uncertain significance | X | 123395049 | 123395049 | Human | | name |
| 151855195 | CV1466342 | single nucleotide variant | NM_007325.5(GRIA3):c.965G>A (p.Arg322His) | not provided [RCV001883253] | uncertain significance | X | 123398688 | 123398688 | Human | | name |
| 151871842 | CV1470525 | single nucleotide variant | NM_007325.5(GRIA3):c.595G>A (p.Val199Ile) | not provided [RCV001925323] | uncertain significance | X | 123326112 | 123326112 | Human | | name |
| 151787387 | CV1488689 | single nucleotide variant | NM_007325.5(GRIA3):c.442G>A (p.Ala148Thr) | not provided [RCV002010335] | uncertain significance | X | 123253476 | 123253476 | Human | | name |
| 153345627 | CV1691217 | single nucleotide variant | NM_007325.5(GRIA3):c.949A>G (p.Ile317Val) | Syndromic X-linked intellectual disability 94 [RCV002272698] | uncertain significance | X | 123398672 | 123398672 | Human | 1 | name |
| 153347615 | CV1692131 | single nucleotide variant | NM_007325.5(GRIA3):c.356C>T (p.Ala119Val) | not provided [RCV002273616] | uncertain significance | X | 123253390 | 123253390 | Human | | name |
| 155265011 | CV1704561 | single nucleotide variant | NM_007325.5(GRIA3):c.517A>G (p.Ile173Val) | not provided [RCV002284777] | uncertain significance | X | 123326034 | 123326034 | Human | | name |
| 155738498 | CV1772975 | single nucleotide variant | NM_007325.5(GRIA3):c.992T>C (p.Val331Ala) | Inborn genetic diseases [RCV004047705]|not provided [RCV002302163] | uncertain significance | X | 123398715 | 123398715 | Human | 1 | name |
| 155687589 | CV1817376 | deletion | NM_007325.5(GRIA3):c.1266del (p.Arg423fs) | Inborn genetic diseases [RCV002373351] | pathogenic | X | 123403492 | 123403492 | Human | 1 | name |
| 10048696 | CV194329 | single nucleotide variant | NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) | Syndromic X-linked intellectual disability 94 [RCV003152691]|not provided [RCV000178131] | pathogenic|likely pathogenic | X | 123326163 | 123326163 | Human | 1 | name |
| 156260995 | CV1960645 | single nucleotide variant | NM_007325.5(GRIA3):c.407A>G (p.Gln136Arg) | not provided [RCV002576845] | uncertain significance | X | 123253441 | 123253441 | Human | | name |
| 156401361 | CV1992079 | single nucleotide variant | NM_007325.5(GRIA3):c.400G>A (p.Asp134Asn) | not provided [RCV002605638] | uncertain significance | X | 123253434 | 123253434 | Human | | name |
| 156386426 | CV1999252 | single nucleotide variant | NM_007325.5(GRIA3):c.436A>G (p.Lys146Glu) | not provided [RCV002654022] | uncertain significance | X | 123253470 | 123253470 | Human | | name |
| 156092285 | CV2030660 | single nucleotide variant | NM_007325.5(GRIA3):c.533T>C (p.Met178Thr) | not provided [RCV002760992] | uncertain significance | X | 123326050 | 123326050 | Human | | name |
| 156086471 | CV2034097 | single nucleotide variant | NM_007325.5(GRIA3):c.770T>C (p.Leu257Pro) | Inborn genetic diseases [RCV003274014]|not provided [RCV002760794] | likely benign|uncertain significance | X | 123394987 | 123394987 | Human | 1 | name |
| 155948527 | CV2036185 | single nucleotide variant | NM_007325.5(GRIA3):c.329T>C (p.Met110Thr) | not provided [RCV002775641] | uncertain significance | X | 123253363 | 123253363 | Human | | name |
| 155937279 | CV2114274 | single nucleotide variant | NM_007325.5(GRIA3):c.964C>T (p.Arg322Cys) | not provided [RCV002904227] | uncertain significance | X | 123398687 | 123398687 | Human | | name |
| 155987214 | CV2153960 | single nucleotide variant | NM_007325.5(GRIA3):c.388C>T (p.Pro130Ser) | not provided [RCV003016649] | uncertain significance | X | 123253422 | 123253422 | Human | | name |
| 11049700 | CV225821 | single nucleotide variant | NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) | Syndromic X-linked intellectual disability 94 [RCV000209928]|not provided [RCV002515567] | likely pathogenic|likely benign|uncertain significance | X | 123253500 | 123253500 | Human | 1 | name |
| 11049691 | CV225850 | single nucleotide variant | NM_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 pathogenicity | X | 123326097 | 123326097 | Human | 1 | name |
| 329394853 | CV2457680 | single nucleotide variant | NM_007325.5(GRIA3):c.997C>T (p.Arg333Trp) | Inborn genetic diseases [RCV003193950]|not provided [RCV005061081] | uncertain significance | X | 123398720 | 123398720 | Human | 1 | name |
| 329846756 | CV2523898 | single nucleotide variant | NM_007325.5(GRIA3):c.783G>A (p.Met261Ile) | Syndromic X-linked intellectual disability 94 [RCV003226600] | uncertain significance | X | 123395000 | 123395000 | Human | 1 | name |
| 11641594 | CV265758 | single nucleotide variant | NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) | History of neurodevelopmental disorder [RCV000721085]|not provided [RCV000514514]|not specified [RCV000359504] | benign|likely benign|uncertain significance | X | 123253431 | 123253431 | Human | | name |
| 329848152 | CV2667771 | single nucleotide variant | NM_007325.5(GRIA3):c.821A>G (p.Asn274Ser) | not provided [RCV003229338] | uncertain significance | X | 123395038 | 123395038 | Human | | name |
| 329953737 | CV2668552 | single nucleotide variant | NM_007325.5(GRIA3):c.490C>G (p.Leu164Val) | not provided [RCV003230205] | uncertain significance | X | 123253524 | 123253524 | Human | | name |
| 329952250 | CV2668948 | single nucleotide variant | NM_007325.5(GRIA3):c.538G>A (p.Ala180Thr) | not provided [RCV003708749]|not specified [RCV003231033] | uncertain significance | X | 123326055 | 123326055 | Human | | name |
| 329951779 | CV2671441 | single nucleotide variant | NM_007325.5(GRIA3):c.307G>T (p.Gly103Ter) | Syndromic X-linked intellectual disability 94 [RCV003236651] | likely pathogenic | X | 123253341 | 123253341 | Human | 1 | name |
| 401757419 | CV2692993 | single nucleotide variant | NM_007325.5(GRIA3):c.527C>G (p.Ala176Gly) | Inborn genetic diseases [RCV003256037]|not provided [RCV005061179] | uncertain significance | X | 123326044 | 123326044 | Human | 1 | name |
| 401739216 | CV2738505 | single nucleotide variant | NM_007325.5(GRIA3):c.425G>A (p.Arg142His) | not provided [RCV003720844]|not specified [RCV003317897] | likely benign|uncertain significance | X | 123253459 | 123253459 | Human | | name |
| 401855565 | CV2752983 | single nucleotide variant | NM_007325.5(GRIA3):c.536A>G (p.Glu179Gly) | Syndromic X-linked intellectual disability 94 [RCV003338038] | uncertain significance | X | 123326053 | 123326053 | Human | 1 | name |
| 401859974 | CV2794440 | single nucleotide variant | NM_007325.5(GRIA3):c.908T>C (p.Leu303Pro) | not provided [RCV003387608] | uncertain significance | X | 123395125 | 123395125 | Human | | name |
| 405090255 | CV2859303 | single nucleotide variant | NM_007325.5(GRIA3):c.458T>C (p.Leu153Pro) | not provided [RCV003549827] | uncertain significance | X | 123253492 | 123253492 | Human | | name |
| 405063275 | CV2939758 | single nucleotide variant | NM_007325.5(GRIA3):c.937G>A (p.Ala313Thr) | not provided [RCV003658937] | uncertain significance | X | 123398660 | 123398660 | Human | | name |
| 405130674 | CV2953709 | single nucleotide variant | NM_007325.5(GRIA3):c.710G>A (p.Gly237Glu) | not provided [RCV003672379] | uncertain significance | X | 123354923 | 123354923 | Human | | name |
| 402509462 | CV2994639 | duplication | NM_007325.5(GRIA3):c.1564dup (p.Ser522fs) | not provided [RCV003689415] | pathogenic | X | 123417460 | 123417461 | Human | | name |
| 402516890 | CV3003222 | single nucleotide variant | NM_007325.5(GRIA3):c.676A>G (p.Ile226Val) | not provided [RCV003716137] | uncertain significance | X | 123326193 | 123326193 | Human | | name |
| 405134706 | CV3018534 | single nucleotide variant | NM_007325.5(GRIA3):c.488A>G (p.Tyr163Cys) | not provided [RCV003701999] | uncertain significance | X | 123253522 | 123253522 | Human | | name |
| 405053729 | CV3022372 | single nucleotide variant | NM_007325.5(GRIA3):c.440G>A (p.Gly147Asp) | not provided [RCV003697189] | uncertain significance | X | 123253474 | 123253474 | Human | | name |
| 405165664 | CV3149438 | single nucleotide variant | NM_007325.5(GRIA3):c.851T>C (p.Ile284Thr) | not provided [RCV003841100] | uncertain significance | X | 123395068 | 123395068 | Human | | name |
| 405237304 | CV3152394 | single nucleotide variant | NM_007325.5(GRIA3):c.577G>A (p.Val193Met) | not provided [RCV003854109] | benign | X | 123326094 | 123326094 | Human | | name |
| 405215883 | CV3160766 | single nucleotide variant | NM_007325.5(GRIA3):c.787G>C (p.Gly263Arg) | not provided [RCV003862828] | uncertain significance | X | 123395004 | 123395004 | Human | | name |
| 404990913 | CV3176261 | single nucleotide variant | NM_007325.5(GRIA3):c.664G>A (p.Glu222Lys) | not provided [RCV003881586] | uncertain significance | X | 123326181 | 123326181 | Human | | name |
| 405268927 | CV3187167 | single nucleotide variant | NM_007325.5(GRIA3):c.940A>G (p.Ile314Val) | not provided [RCV003887251] | uncertain significance | X | 123398663 | 123398663 | Human | | name |
| 405708805 | CV3225556 | single nucleotide variant | NM_007325.5(GRIA3):c.628G>C (p.Asp210His) | Syndromic X-linked intellectual disability 94 [RCV003990613] | uncertain significance | X | 123326145 | 123326145 | Human | 1 | name |
| 405744576 | CV3226132 | single nucleotide variant | NM_007325.5(GRIA3):c.880G>T (p.Glu294Ter) | Syndromic X-linked intellectual disability 94 [RCV003991123] | uncertain significance | X | 123395097 | 123395097 | Human | 1 | name |
| 407429603 | CV3413933 | single nucleotide variant | NM_007325.5(GRIA3):c.793G>A (p.Ala265Thr) | Syndromic X-linked intellectual disability 94 [RCV004595342] | uncertain significance | X | 123395010 | 123395010 | Human | 1 | name |
| 408390666 | CV3520956 | single nucleotide variant | NM_007325.5(GRIA3):c.856C>A (p.Arg286Ser) | not provided [RCV004762778] | uncertain significance | X | 123395073 | 123395073 | Human | | name |
| 408391261 | CV3521270 | single nucleotide variant | NM_007325.5(GRIA3):c.428C>T (p.Pro143Leu) | not provided [RCV004763092] | uncertain significance | X | 123253462 | 123253462 | Human | | name |
| 408390067 | CV3524906 | single nucleotide variant | NM_007325.5(GRIA3):c.761A>T (p.Asp254Val) | not provided [RCV004769801] | uncertain significance | X | 123394978 | 123394978 | Human | | name |
| 408388200 | CV3527410 | single nucleotide variant | NM_007325.5(GRIA3):c.332A>G (p.Asn111Ser) | not provided [RCV004773713] | uncertain significance | X | 123253366 | 123253366 | Human | | name |
| 596928517 | CV3540436 | single nucleotide variant | NM_007325.5(GRIA3):c.447T>G (p.Ile149Met) | Syndromic X-linked intellectual disability 94 [RCV004794763] | uncertain significance | X | 123253481 | 123253481 | Human | 1 | name |
| 597833549 | CV3735018 | single nucleotide variant | NM_007325.5(GRIA3):c.474G>C (p.Trp158Cys) | not provided [RCV005054751] | uncertain significance | X | 123253508 | 123253508 | Human | | name |
| 597876772 | CV3766688 | single nucleotide variant | NM_007325.5(GRIA3):c.983G>A (p.Arg328Gln) | not provided [RCV005108628] | uncertain significance | X | 123398706 | 123398706 | Human | | name |
| 597926322 | CV3778479 | deletion | NM_000828.5(GRIA3):c.2362del (p.Gln788fs) | not provided [RCV005131002] | uncertain significance | X | 123465711 | 123465711 | Human | | name |
| 597898412 | CV3782531 | single nucleotide variant | NM_007325.5(GRIA3):c.772G>T (p.Glu258Ter) | not provided [RCV005126756] | uncertain significance | X | 123394989 | 123394989 | Human | | name |
| 597887334 | CV3787573 | single nucleotide variant | NM_007325.5(GRIA3):c.599A>G (p.Gln200Arg) | not provided [RCV005125139] | uncertain significance | X | 123326116 | 123326116 | Human | | name |
| 597889076 | CV3788044 | single nucleotide variant | NM_007325.5(GRIA3):c.904C>A (p.Pro302Thr) | not provided [RCV005125402] | uncertain significance | X | 123395121 | 123395121 | Human | | name |
| 597866327 | CV3802816 | single nucleotide variant | NM_007325.5(GRIA3):c.329T>G (p.Met110Arg) | not provided [RCV005147603] | uncertain significance | X | 123253363 | 123253363 | Human | | name |
| 597867057 | CV3802944 | single nucleotide variant | NM_007325.5(GRIA3):c.764T>C (p.Ile255Thr) | not provided [RCV005147731] | uncertain significance | X | 123394981 | 123394981 | Human | | name |
| 597921289 | CV3808027 | single nucleotide variant | NM_007325.5(GRIA3):c.674G>A (p.Arg225Lys) | not provided [RCV005155735] | uncertain significance | X | 123326191 | 123326191 | Human | | name |
| 597970676 | CV3832580 | single nucleotide variant | NM_007325.5(GRIA3):c.862G>C (p.Val288Leu) | not provided [RCV005166659] | uncertain significance | X | 123395079 | 123395079 | Human | | name |
| 597912317 | CV3834243 | single nucleotide variant | NM_007325.5(GRIA3):c.413T>C (p.Val138Ala) | not provided [RCV005183005] | uncertain significance | X | 123253447 | 123253447 | Human | | name |
| 597883428 | CV3834772 | single nucleotide variant | NM_007325.5(GRIA3):c.545T>C (p.Val182Ala) | not provided [RCV005178495] | uncertain significance | X | 123326062 | 123326062 | Human | | name |
| 616933819 | CV4011785 | single nucleotide variant | NM_007325.5(GRIA3):c.595G>T (p.Val199Phe) | not specified [RCV005408334] | uncertain significance | X | 123326112 | 123326112 | Human | | name |
| 12907175 | CV415737 | single nucleotide variant | NM_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 significance | X | 123326044 | 123326044 | Human | 1 | name |
| 14702443 | CV626290 | single nucleotide variant | NM_007325.5(GRIA3):c.813G>C (p.Gln271His) | Syndromic X-linked intellectual disability 94 [RCV000790924]|not provided [RCV003727827] | uncertain significance | X | 123395030 | 123395030 | Human | 1 | name |
| 40815248 | CV971175 | single nucleotide variant | NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg) | Syndromic X-linked intellectual disability 94 [RCV001262532] | uncertain significance | X | 123395029 | 123395029 | Human | 1 | name |
| 126742790 | CV1018892 | single nucleotide variant | NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) | Syndromic X-linked intellectual disability 94 [RCV001330039] | uncertain significance | X | 123403435 | 123403435 | Human | 1 | name |
| 150529715 | CV1289397 | single nucleotide variant | NM_007325.5(GRIA3):c.1979G>C (p.Arg660Thr) | GRIA3-related complex neurodevelopmental disorder [RCV001728148] | pathogenic | X | 123428042 | 123428042 | Human | | name , trait |
| 150530733 | CV1293496 | single nucleotide variant | NM_007325.5(GRIA3):c.1259C>T (p.Ser420Leu) | Inborn genetic diseases [RCV004980631]|not provided [RCV001756717] | uncertain significance | X | 123403485 | 123403485 | Human | 1 | name |
| 150549023 | CV1294910 | single nucleotide variant | NM_000828.5(GRIA3):c.2371T>A (p.Leu791Met) | not provided [RCV001764871] | uncertain significance | X | 123465720 | 123465720 | Human | | name |
| 150551715 | CV1297531 | single nucleotide variant | NM_007325.5(GRIA3):c.2197G>A (p.Ala733Thr) | not provided [RCV001767215] | uncertain significance | X | 123464985 | 123464985 | Human | | name |
| 150549799 | CV1299660 | single nucleotide variant | NM_007325.5(GRIA3):c.1036G>A (p.Val346Met) | not provided [RCV001752586] | uncertain significance | X | 123398759 | 123398759 | Human | | name |
| 151348114 | CV1322380 | single nucleotide variant | NM_007325.5(GRIA3):c.1358G>A (p.Gly453Asp) | not provided [RCV001804185] | likely pathogenic | X | 123404772 | 123404772 | Human | | name |
| 8658698 | CV132679 | single nucleotide variant | NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) | Syndromic X-linked intellectual disability 94 [RCV000115024] | pathogenic | X | 123427951 | 123427951 | Human | 1 | name |
| 151757882 | CV1336285 | single nucleotide variant | NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val) | Syndromic X-linked intellectual disability 94 [RCV001849243] | pathogenic | X | 123417745 | 123417745 | Human | 1 | name |
| 151767526 | CV1341555 | single nucleotide variant | NM_007325.5(GRIA3):c.2177G>A (p.Arg726Gln) | not provided [RCV001874120] | uncertain significance | X | 123464965 | 123464965 | Human | | name |
| 151878845 | CV1359780 | single nucleotide variant | NM_007325.5(GRIA3):c.1117G>A (p.Asp373Asn) | not provided [RCV002036594] | uncertain significance | X | 123403030 | 123403030 | Human | | name |
| 151719493 | CV1373767 | single nucleotide variant | NM_007325.5(GRIA3):c.1771C>T (p.Arg591Cys) | GRIA3-related disorder [RCV004542156]|not provided [RCV001890864] | uncertain significance | X | 123417672 | 123417672 | Human | 1 | name , trait , alternate_id |
| 151818992 | CV1385799 | single nucleotide variant | NM_000828.5(GRIA3):c.2408G>T (p.Gly803Val) | not provided [RCV002013184] | uncertain significance | X | 123465757 | 123465757 | Human | | name |
| 151764466 | CV1407674 | single nucleotide variant | NM_007325.5(GRIA3):c.1613A>G (p.Gln538Arg) | not provided [RCV002044639] | uncertain significance | X | 123417514 | 123417514 | Human | | name |
| 151885776 | CV1418190 | single nucleotide variant | NM_007325.5(GRIA3):c.1263G>T (p.Glu421Asp) | not provided [RCV001887424] | uncertain significance | X | 123403489 | 123403489 | Human | | name |
| 151889478 | CV1420167 | single nucleotide variant | NM_007325.5(GRIA3):c.1198A>C (p.Asn400His) | not provided [RCV002001302] | uncertain significance | X | 123403424 | 123403424 | Human | | name |
| 151721962 | CV1421883 | single nucleotide variant | NM_007325.5(GRIA3):c.1310T>C (p.Met437Thr) | not provided [RCV001909872] | uncertain significance | X | 123404724 | 123404724 | Human | | name |
| 151870670 | CV1477005 | single nucleotide variant | NM_007325.5(GRIA3):c.2113T>G (p.Tyr705Asp) | not provided [RCV001925165] | uncertain significance | X | 123464901 | 123464901 | Human | | name |
| 151778199 | CV1477006 | single nucleotide variant | NM_007325.5(GRIA3):c.2135C>A (p.Ser712Tyr) | not provided [RCV001896988] | uncertain significance | X | 123464923 | 123464923 | Human | | name |
| 151889551 | CV1479712 | single nucleotide variant | NM_007325.5(GRIA3):c.1007G>C (p.Ser336Thr) | not provided [RCV001888203] | uncertain significance | X | 123398730 | 123398730 | Human | | name |
| 152088452 | CV1519439 | single nucleotide variant | NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter) | Inborn genetic diseases [RCV002331657]|Syndromic X-linked intellectual disability 94 [RCV002077374] | pathogenic|likely pathogenic | X | 123403093 | 123403093 | Human | 2 | name |
| 152981442 | CV1676601 | single nucleotide variant | NM_007325.5(GRIA3):c.1236A>C (p.Gln412His) | Seizure [RCV002246195]|not provided [RCV003698886] | likely benign|uncertain significance | X | 123403462 | 123403462 | Human | 2 | name |
| 155266160 | CV1695547 | single nucleotide variant | NM_000828.5(GRIA3):c.2337C>A (p.Asn779Lys) | not provided [RCV002280279] | uncertain significance | X | 123465686 | 123465686 | Human | | name |
| 155266161 | CV1695656 | single nucleotide variant | NM_007325.5(GRIA3):c.1760A>G (p.Asn587Ser) | See cases [RCV002287536]|Syndromic X-linked intellectual disability 94 [RCV004813204]|not provided [RCV002280387] | uncertain significance | X | 123417661 | 123417661 | Human | 1 | name |
| 155267255 | CV1699509 | single nucleotide variant | NM_007325.5(GRIA3):c.1994T>C (p.Ile665Thr) | not provided [RCV002283304] | pathogenic | X | 123428057 | 123428057 | Human | | name |
| 155690518 | CV1775156 | single nucleotide variant | NM_007325.5(GRIA3):c.2255C>T (p.Thr752Met) | not provided [RCV002294863] | uncertain significance | X | 123465043 | 123465043 | Human | | name |
| 155700350 | CV1776108 | single nucleotide variant | NM_007325.5(GRIA3):c.1142A>T (p.Tyr381Phe) | not provided [RCV002299929] | uncertain significance | X | 123403055 | 123403055 | Human | | name |
| 155718615 | CV1778514 | single nucleotide variant | NM_007325.5(GRIA3):c.2512G>T (p.Ala838Ser) | not provided [RCV002296603] | uncertain significance | X | 123482871 | 123482871 | Human | | name |
| 155715083 | CV1834944 | single nucleotide variant | NM_007325.5(GRIA3):c.1794T>A (p.Asp598Glu) | Inborn genetic diseases [RCV002404239] | uncertain significance | X | 123417695 | 123417695 | Human | 1 | name |
| 155748516 | CV1847175 | single nucleotide variant | NM_007325.5(GRIA3):c.2132C>A (p.Pro711Gln) | Inborn genetic diseases [RCV002417802] | uncertain significance | X | 123464920 | 123464920 | Human | 1 | name |
| 155724759 | CV1851754 | single nucleotide variant | NM_007325.5(GRIA3):c.2531T>C (p.Ile844Thr) | Inborn genetic diseases [RCV002433168]|not provided [RCV003101934] | likely benign|uncertain significance | X | 123482890 | 123482890 | Human | 1 | name |
| 155704040 | CV1852447 | single nucleotide variant | NM_007325.5(GRIA3):c.1009G>A (p.Ala337Thr) | Inborn genetic diseases [RCV002428915]|not provided [RCV003102108] | uncertain significance | X | 123398732 | 123398732 | Human | 1 | name |
| 155798189 | CV1859640 | single nucleotide variant | NM_007325.5(GRIA3):c.1261G>C (p.Glu421Gln) | Syndromic X-linked intellectual disability 94 [RCV002465432] | uncertain significance | X | 123403487 | 123403487 | Human | 1 | name |
| 155798345 | CV1861957 | single nucleotide variant | NM_007325.5(GRIA3):c.1544G>A (p.Arg515His) | Syndromic X-linked intellectual disability 94 [RCV002471360] | likely pathogenic | X | 123417445 | 123417445 | Human | 1 | name |
| 156372111 | CV1878385 | single nucleotide variant | NM_007325.5(GRIA3):c.1349G>A (p.Arg450Gln) | not provided [RCV003066376] | uncertain significance | X | 123404763 | 123404763 | Human | | name |
| 10049160 | CV195912 | single nucleotide variant | NM_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 pathogenicity | X | 123403094 | 123403094 | Human | 2 | name , trait , alternate_id |
| 156392278 | CV1986392 | single nucleotide variant | NM_007325.5(GRIA3):c.1237A>G (p.Ile413Val) | not provided [RCV002604782] | uncertain significance | X | 123403463 | 123403463 | Human | | name |
| 156370261 | CV2007674 | single nucleotide variant | NM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln) | Syndromic X-linked intellectual disability 94 [RCV003134475]|not provided [RCV002676844] | uncertain significance | X | 123464959 | 123464959 | Human | 1 | name |
| 155942198 | CV2055070 | single nucleotide variant | NM_000828.5(GRIA3):c.2365G>T (p.Gly789Cys) | not provided [RCV002815767] | uncertain significance | X | 123465714 | 123465714 | Human | | name |
| 156146392 | CV2128183 | single nucleotide variant | NM_007325.5(GRIA3):c.1982T>C (p.Met661Thr) | not provided [RCV002928749] | likely pathogenic|uncertain significance | X | 123428045 | 123428045 | Human | | name |
| 156023945 | CV2145496 | single nucleotide variant | NM_007325.5(GRIA3):c.2567G>A (p.Arg856His) | not provided [RCV003018363] | uncertain significance | X | 123482926 | 123482926 | Human | | name |
| 155986169 | CV2159718 | single nucleotide variant | NM_007325.5(GRIA3):c.1978A>G (p.Arg660Gly) | not provided [RCV003034107] | uncertain significance | X | 123428041 | 123428041 | Human | | name |
| 156199949 | CV2169738 | single nucleotide variant | NM_007325.5(GRIA3):c.1990C>T (p.Pro664Ser) | not provided [RCV003041935] | uncertain significance | X | 123428053 | 123428053 | Human | | name |
| 156197534 | CV2186838 | single nucleotide variant | NM_007325.5(GRIA3):c.2600A>G (p.Lys867Arg) | not provided [RCV003058045] | uncertain significance | X | 123482959 | 123482959 | Human | | name |
| 156246201 | CV2192474 | single nucleotide variant | NM_007325.5(GRIA3):c.2605G>A (p.Ala869Thr) | not provided [RCV003059842] | uncertain significance | X | 123482964 | 123482964 | Human | | name |
| 243051527 | CV2403909 | single nucleotide variant | NM_007325.5(GRIA3):c.2116A>G (p.Met706Val) | not provided [RCV003128983] | uncertain significance | X | 123464904 | 123464904 | Human | | name |
| 329384455 | CV2472855 | single nucleotide variant | NM_007325.5(GRIA3):c.2591A>G (p.Gln864Arg) | not provided [RCV003214157] | uncertain significance | X | 123482950 | 123482950 | Human | | name |
| 329846742 | CV2523888 | single nucleotide variant | NM_007325.5(GRIA3):c.1679T>C (p.Val560Ala) | Syndromic X-linked intellectual disability 94 [RCV003226590] | uncertain significance | X | 123417580 | 123417580 | Human | 1 | name |
| 329846743 | CV2523889 | single nucleotide variant | NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser) | Syndromic X-linked intellectual disability 94 [RCV003226591] | pathogenic | X | 123428020 | 123428020 | Human | 1 | name |
| 329846745 | CV2523890 | single nucleotide variant | NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala) | Syndromic X-linked intellectual disability 94 [RCV003226592] | likely pathogenic | X | 123428036 | 123428036 | Human | 1 | name |
| 329846757 | CV2523899 | single nucleotide variant | NM_007325.5(GRIA3):c.1531A>G (p.Ile511Val) | Syndromic X-linked intellectual disability 94 [RCV003226601] | uncertain significance | X | 123417432 | 123417432 | Human | 1 | name |
| 329846758 | CV2523900 | single nucleotide variant | NM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg) | Syndromic X-linked intellectual disability 94 [RCV003226602] | uncertain significance | X | 123417482 | 123417482 | Human | 1 | name |
| 8561614 | CV25395 | single nucleotide variant | NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) | Syndromic X-linked intellectual disability 94 [RCV000011069]|not provided [RCV004719636] | pathogenic | X | 123482856 | 123482856 | Human | 1 | name |
| 8561615 | CV25396 | single nucleotide variant | NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) | Syndromic X-linked intellectual disability 94 [RCV000011070] | pathogenic | X | 123427954 | 123427954 | Human | 1 | name |
| 8561616 | CV25397 | single nucleotide variant | NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) | Syndromic X-linked intellectual disability 94 [RCV000011071] | pathogenic | X | 123464905 | 123464905 | Human | 1 | name |
| 329954056 | CV2669390 | single nucleotide variant | NM_007325.5(GRIA3):c.1760A>T (p.Asn587Ile) | not provided [RCV003231898] | uncertain significance | X | 123417661 | 123417661 | Human | | name |
| 401739220 | CV2738506 | single nucleotide variant | NM_007325.5(GRIA3):c.2126C>T (p.Ala709Val) | not specified [RCV003317898] | uncertain significance | X | 123464914 | 123464914 | Human | | name |
| 401796262 | CV2740468 | single nucleotide variant | NM_007325.5(GRIA3):c.1737T>A (p.Tyr579Ter) | not provided [RCV003321138] | uncertain significance | X | 123417638 | 123417638 | Human | | name |
| 401830471 | CV2748173 | single nucleotide variant | NM_007325.5(GRIA3):c.2636C>T (p.Thr879Ile) | not provided [RCV003329780] | uncertain significance | X | 123482995 | 123482995 | Human | | name |
| 401860234 | CV2751949 | single nucleotide variant | NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val) | Syndromic X-linked intellectual disability 94 [RCV003335832]|not provided [RCV005416715] | pathogenic|likely pathogenic | X | 123428012 | 123428012 | Human | 1 | name |
| 401926149 | CV2803423 | single nucleotide variant | NM_007325.5(GRIA3):c.1172G>C (p.Ser391Thr) | GRIA3-related disorder [RCV004528004] | uncertain significance | X | 123403085 | 123403085 | Human | | name , trait , alternate_id |
| 401924921 | CV2805065 | single nucleotide variant | NM_007325.5(GRIA3):c.2476G>A (p.Gly826Ser) | not specified [RCV003404884] | uncertain significance | X | 123482835 | 123482835 | Human | | name |
| 401914588 | CV2830757 | single nucleotide variant | NM_007325.5(GRIA3):c.1852C>A (p.Gln618Lys) | not provided [RCV003442495] | uncertain significance | X | 123417753 | 123417753 | Human | | name |
| 401944985 | CV2840777 | single nucleotide variant | NM_007325.5(GRIA3):c.2262A>C (p.Lys754Asn) | not provided [RCV003457620] | uncertain significance | X | 123465050 | 123465050 | Human | | name |
| 404977370 | CV2850195 | single nucleotide variant | NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys) | Syndromic X-linked intellectual disability 94 [RCV003486103] | uncertain significance | X | 123465748 | 123465748 | Human | 1 | name |
| 405019557 | CV2866211 | single nucleotide variant | NM_007325.5(GRIA3):c.2642G>C (p.Arg881Thr) | Inborn genetic diseases [RCV004634275]|not provided [RCV003577473] | uncertain significance | X | 123483001 | 123483001 | Human | 1 | name |
| 405205950 | CV2873809 | single nucleotide variant | NM_007325.5(GRIA3):c.2471T>C (p.Val824Ala) | not provided [RCV003551941] | uncertain significance | X | 123482830 | 123482830 | Human | | name |
| 405169565 | CV2911829 | single nucleotide variant | NM_007325.5(GRIA3):c.1210A>G (p.Arg404Gly) | not provided [RCV003563010] | uncertain significance | X | 123403436 | 123403436 | Human | | name |
| 405207185 | CV2913606 | single nucleotide variant | NM_007325.5(GRIA3):c.2621C>G (p.Thr874Ser) | not provided [RCV003566599] | uncertain significance | X | 123482980 | 123482980 | Human | | name |
| 402464567 | CV2916337 | single nucleotide variant | NM_007325.5(GRIA3):c.1781A>G (p.Gln594Arg) | not provided [RCV003569041] | uncertain significance | X | 123417682 | 123417682 | Human | | name |
| 405100525 | CV2947895 | single nucleotide variant | NM_007325.5(GRIA3):c.1891C>T (p.Arg631Cys) | not provided [RCV003665972] | uncertain significance | X | 123427954 | 123427954 | Human | | name |
| 405148704 | CV2959501 | single nucleotide variant | NM_007325.5(GRIA3):c.1200T>G (p.Asn400Lys) | not provided [RCV003673844] | uncertain significance | X | 123403426 | 123403426 | Human | | name |
| 405234810 | CV2972446 | single nucleotide variant | NM_007325.5(GRIA3):c.2021A>G (p.Gln674Arg) | not provided [RCV003682857] | uncertain significance | X | 123428084 | 123428084 | Human | | name |
| 405222334 | CV2976277 | single nucleotide variant | NM_007325.5(GRIA3):c.1076A>T (p.Lys359Ile) | not provided [RCV003680882] | uncertain significance | X | 123398799 | 123398799 | Human | | name |
| 405217222 | CV2978300 | single nucleotide variant | NM_007325.5(GRIA3):c.2189G>A (p.Gly730Glu) | not provided [RCV003709476] | uncertain significance | X | 123464977 | 123464977 | Human | | name |
| 404981541 | CV2986149 | single nucleotide variant | NM_007325.5(GRIA3):c.2648G>T (p.Gly883Val) | not provided [RCV003691310] | uncertain significance | X | 123483007 | 123483007 | Human | | name |
| 405008272 | CV3006634 | single nucleotide variant | NM_007325.5(GRIA3):c.1115T>C (p.Phe372Ser) | not provided [RCV003693766] | uncertain significance | X | 123403028 | 123403028 | Human | | name |
| 405222254 | CV3038733 | single nucleotide variant | NM_007325.5(GRIA3):c.2231T>C (p.Ile744Thr) | not provided [RCV003710149] | uncertain significance | X | 123465019 | 123465019 | Human | | name |
| 405094932 | CV3045551 | single nucleotide variant | NM_007325.5(GRIA3):c.1220C>T (p.Pro407Leu) | not provided [RCV003717969] | uncertain significance | X | 123403446 | 123403446 | Human | | name |
| 405209974 | CV3062179 | single nucleotide variant | NM_007325.5(GRIA3):c.1786C>A (p.Pro596Thr) | not provided [RCV003731862] | uncertain significance | X | 123417687 | 123417687 | Human | | name |
| 405079128 | CV3137077 | single nucleotide variant | NM_007325.5(GRIA3):c.2602C>A (p.Pro868Thr) | not provided [RCV003833976] | uncertain significance | X | 123482961 | 123482961 | Human | | name |
| 405245875 | CV3162152 | single nucleotide variant | NM_007325.5(GRIA3):c.1268G>A (p.Arg423Gln) | not provided [RCV003868671] | uncertain significance | X | 123403494 | 123403494 | Human | | name |
| 405004494 | CV3184558 | single nucleotide variant | NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys) | Syndromic X-linked intellectual disability 94 [RCV003883347] | pathogenic | X | 123465708 | 123465708 | Human | 1 | name |
| 405267947 | CV3186942 | single nucleotide variant | NM_007325.5(GRIA3):c.2097C>G (p.Tyr699Ter) | not provided [RCV003887025] | likely pathogenic | X | 123464885 | 123464885 | Human | | name |
| 405273281 | CV3197744 | single nucleotide variant | NM_000828.5(GRIA3):c.2396G>T (p.Trp799Leu) | GRIA3-related disorder [RCV004531922] | likely pathogenic | X | 123465745 | 123465745 | Human | | name , trait , alternate_id |
| 405267009 | CV3202102 | single nucleotide variant | NM_007325.5(GRIA3):c.1594A>G (p.Ile532Val) | GRIA3-related disorder [RCV004536914] | uncertain significance | X | 123417495 | 123417495 | Human | | name , trait , alternate_id |
| 405745356 | CV3226265 | single nucleotide variant | NM_007325.5(GRIA3):c.1367T>C (p.Val456Ala) | Syndromic X-linked intellectual disability 94 [RCV003991256] | uncertain significance | X | 123404781 | 123404781 | Human | 1 | name |
| 405852347 | CV3395940 | single nucleotide variant | NM_007325.5(GRIA3):c.1373T>C (p.Leu458Pro) | Syndromic X-linked intellectual disability 94 [RCV004556959] | likely pathogenic | X | 123404787 | 123404787 | Human | 1 | name |
| 407427163 | CV3410500 | single nucleotide variant | NM_007325.5(GRIA3):c.1010C>G (p.Ala337Gly) | not specified [RCV004586147] | uncertain significance | X | 123398733 | 123398733 | Human | | name |
| 408368298 | CV3509958 | single nucleotide variant | NM_000828.5(GRIA3):c.2437A>C (p.Lys813Gln) | GRIA3-related disorder [RCV004735026] | uncertain significance | X | 123465786 | 123465786 | Human | | name , trait , alternate_id |
| 408394674 | CV3518244 | single nucleotide variant | NM_000828.5(GRIA3):c.2392T>C (p.Trp798Arg) | Syndromic X-linked intellectual disability 94 [RCV004759567] | uncertain significance | X | 123465741 | 123465741 | Human | 1 | name |
| 408385843 | CV3520380 | single nucleotide variant | NM_007325.5(GRIA3):c.1324C>T (p.His442Tyr) | not provided [RCV004760201] | uncertain significance | X | 123404738 | 123404738 | Human | | name |
| 408392240 | CV3525165 | single nucleotide variant | NM_007325.5(GRIA3):c.1676T>C (p.Ile559Thr) | not provided [RCV004771051] | uncertain significance | X | 123417577 | 123417577 | Human | | name |
| 408391342 | CV3527965 | single nucleotide variant | NM_007325.5(GRIA3):c.1470G>A (p.Trp490Ter) | not provided [RCV004775237] | uncertain significance | X | 123404884 | 123404884 | Human | | name |
| 596927512 | CV3541110 | single nucleotide variant | NM_007325.5(GRIA3):c.2258T>A (p.Met753Lys) | Syndromic X-linked intellectual disability 94 [RCV004796981] | uncertain significance | X | 123465046 | 123465046 | Human | 1 | name |
| 596947578 | CV3549137 | single nucleotide variant | NM_007325.5(GRIA3):c.2582A>G (p.Lys861Arg) | not provided [RCV004811461] | uncertain significance | X | 123482941 | 123482941 | Human | | name |
| 596939050 | CV3550264 | single nucleotide variant | NM_007325.5(GRIA3):c.2359G>A (p.Glu787Lys) | Developmental and epileptic encephalopathy [RCV004813566] | pathogenic | X | 123480097 | 123480097 | Human | 1 | name |
| 597633323 | CV3552982 | single nucleotide variant | NM_007325.5(GRIA3):c.1211G>C (p.Arg404Thr) | not provided [RCV004823812] | uncertain significance | X | 123403437 | 123403437 | Human | | name |
| 597681142 | CV3678560 | single nucleotide variant | NM_007325.5(GRIA3):c.1795C>G (p.Pro599Ala) | Inborn genetic diseases [RCV004982788]|not provided [RCV005110327] | uncertain significance | X | 123417696 | 123417696 | Human | 1 | name |
| 597681147 | CV3678561 | single nucleotide variant | NM_007325.5(GRIA3):c.2656G>A (p.Val886Met) | Inborn genetic diseases [RCV004982789] | uncertain significance | X | 123483015 | 123483015 | Human | 1 | name |
| 597716850 | CV3733298 | single nucleotide variant | NM_007325.5(GRIA3):c.1543C>T (p.Arg515Cys) | not provided [RCV005052488] | uncertain significance | X | 123417444 | 123417444 | Human | | name |
| 597870855 | CV3768238 | single nucleotide variant | NM_007325.5(GRIA3):c.1216G>A (p.Val406Met) | not provided [RCV005122617] | uncertain significance | X | 123403442 | 123403442 | Human | | name |
| 597875003 | CV3775568 | single nucleotide variant | NM_000828.5(GRIA3):c.2407G>A (p.Gly803Arg) | not provided [RCV005123298] | uncertain significance | X | 123465756 | 123465756 | Human | | name |
| 12849225 | CV377731 | single nucleotide variant | NM_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 records | X | 123428020 | 123428020 | Human | 2 | name |
| 597923912 | CV3777928 | single nucleotide variant | NM_007325.5(GRIA3):c.1801A>G (p.Asn601Asp) | not provided [RCV005130652] | uncertain significance | X | 123417702 | 123417702 | Human | | name |
| 597923929 | CV3777932 | single nucleotide variant | NM_007325.5(GRIA3):c.1532T>C (p.Ile511Thr) | not provided [RCV005130656] | uncertain significance | X | 123417433 | 123417433 | Human | | name |
| 12838706 | CV378874 | single nucleotide variant | NM_007325.5(GRIA3):c.1999A>G (p.Ser667Gly) | not provided [RCV000427441] | uncertain significance | X | 123428062 | 123428062 | Human | | name |
| 597954375 | CV3795767 | single nucleotide variant | NM_007325.5(GRIA3):c.1528A>G (p.Thr510Ala) | not provided [RCV005136777] | uncertain significance | X | 123417429 | 123417429 | Human | | name |
| 12849276 | CV379911 | single nucleotide variant | NM_000828.5(GRIA3):c.2408G>A (p.Gly803Glu) | GRIA3-related disorder [RCV000509420]|not provided [RCV000427181] | likely pathogenic|not provided | X | 123465757 | 123465757 | Human | 1 | name , trait , alternate_id |
| 597974574 | CV3802255 | single nucleotide variant | NM_007325.5(GRIA3):c.2032G>T (p.Ala678Ser) | not provided [RCV005144032] | uncertain significance | X | 123428095 | 123428095 | Human | | name |
| 597910533 | CV3830177 | single nucleotide variant | NM_007325.5(GRIA3):c.1702G>A (p.Val568Ile) | not provided [RCV005182747] | uncertain significance | X | 123417603 | 123417603 | Human | | name |
| 597961139 | CV3844063 | single nucleotide variant | NM_000828.5(GRIA3):c.2366G>C (p.Gly789Ala) | not provided [RCV005192909] | uncertain significance | X | 123465715 | 123465715 | Human | | name |
| 597901763 | CV3845489 | single nucleotide variant | NM_007325.5(GRIA3):c.2053G>A (p.Gly685Ser) | not provided [RCV005181299] | uncertain significance | X | 123428116 | 123428116 | Human | | name |
| 597935590 | CV3863753 | single nucleotide variant | NM_007325.5(GRIA3):c.2678A>C (p.Lys893Thr) | not provided [RCV005207566] | uncertain significance | X | 123483037 | 123483037 | Human | | name |
| 598124815 | CV3883692 | single nucleotide variant | NM_000828.5(GRIA3):c.2368C>T (p.Leu790Phe) | not provided [RCV005236046] | uncertain significance | X | 123465717 | 123465717 | Human | | name |
| 598127833 | CV3888341 | single nucleotide variant | NM_007325.5(GRIA3):c.1972G>A (p.Val658Met) | not provided [RCV005243027] | uncertain significance | X | 123428035 | 123428035 | Human | | name |
| 598222367 | CV3893870 | single nucleotide variant | NM_007325.5(GRIA3):c.2479G>A (p.Val827Ile) | not provided [RCV005257113] | uncertain significance | X | 123482838 | 123482838 | Human | | name |
| 598159975 | CV3897196 | single nucleotide variant | NM_007325.5(GRIA3):c.1558G>A (p.Asp520Asn) | not provided [RCV005368170] | uncertain significance | X | 123417459 | 123417459 | Human | | name |
| 617149206 | CV4017181 | single nucleotide variant | NM_007325.5(GRIA3):c.2192A>G (p.Lys731Arg) | not provided [RCV005416838] | uncertain significance | X | 123464980 | 123464980 | Human | | name |
| 617149344 | CV4021454 | single nucleotide variant | NM_007325.5(GRIA3):c.1630G>A (p.Val544Ile) | not provided [RCV005425423] | uncertain significance | X | 123417531 | 123417531 | Human | | name |
| 12902069 | CV411122 | single nucleotide variant | NM_000828.5(GRIA3):c.2416G>A (p.Gly806Ser) | not provided [RCV000486204] | uncertain significance | X | 123465765 | 123465765 | Human | | name |
| 12906979 | CV415738 | single nucleotide variant | NM_007325.5(GRIA3):c.1130G>A (p.Arg377His) | not provided [RCV000489881] | conflicting interpretations of pathogenicity|uncertain significance | X | 123403043 | 123403043 | Human | | name |
| 13210924 | CV424674 | single nucleotide variant | NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) | Syndromic X-linked intellectual disability 94 [RCV000496189] | pathogenic | X | 123428027 | 123428027 | Human | 1 | name |
| 13487070 | CV446489 | single nucleotide variant | NM_007325.5(GRIA3):c.1991C>T (p.Pro664Leu) | not provided [RCV000523115] | uncertain significance | X | 123428054 | 123428054 | Human | | name |
| 13479263 | CV446490 | single nucleotide variant | NM_007325.5(GRIA3):c.2452G>A (p.Ala818Thr) | not provided [RCV000520902] | conflicting interpretations of pathogenicity|uncertain significance | X | 123482811 | 123482811 | Human | | name |
| 13483740 | CV446491 | single nucleotide variant | NM_007325.5(GRIA3):c.2470G>A (p.Val824Met) | not provided [RCV000522137] | uncertain significance | X | 123482829 | 123482829 | Human | | name |
| 13519181 | CV486508 | single nucleotide variant | NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) | Inborn genetic diseases [RCV002331001]|not provided [RCV000585447] | benign|conflicting interpretations of pathogenicity|uncertain significance | X | 123403079 | 123403079 | Human | 1 | name |
| 13530439 | CV512575 | single nucleotide variant | NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) | Inborn genetic diseases [RCV000622505] | likely pathogenic | X | 123417403 | 123417403 | Human | 1 | name |
| 13532098 | CV512576 | single nucleotide variant | NM_007325.5(GRIA3):c.1940C>T (p.Ser647Phe) | Inborn genetic diseases [RCV000623912] | uncertain significance | X | 123428003 | 123428003 | Human | 1 | name |
| 13531800 | CV512577 | single nucleotide variant | NM_007325.5(GRIA3):c.1980G>C (p.Arg660Ser) | Inborn genetic diseases [RCV000623641] | uncertain significance | X | 123428043 | 123428043 | Human | 1 | name |
| 13532815 | CV512578 | single nucleotide variant | NM_007325.5(GRIA3):c.2321T>C (p.Leu774Ser) | Inborn genetic diseases [RCV000624569]|not provided [RCV001536339] | likely pathogenic|uncertain significance | X | 123465109 | 123465109 | Human | 1 | name |
| 13794548 | CV552242 | single nucleotide variant | NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) | Syndromic X-linked intellectual disability 94 [RCV000679995] | uncertain significance | X | 123464904 | 123464904 | Human | 1 | name |
| 13794549 | CV552243 | single nucleotide variant | NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) | Neurodevelopmental disorder [RCV001375008]|Syndromic X-linked intellectual disability 94 [RCV000679996] | likely pathogenic|uncertain significance | X | 123480146 | 123480146 | Human | 2 | name |
| 13794528 | CV552244 | single nucleotide variant | NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) | Syndromic X-linked intellectual disability 94 [RCV000679971] | uncertain significance | X | 123482806 | 123482806 | Human | 1 | name |
| 13830002 | CV580635 | single nucleotide variant | NM_007325.5(GRIA3):c.1850T>C (p.Met617Thr) | Inborn genetic diseases [RCV002318792] | uncertain significance | X | 123417751 | 123417751 | Human | 1 | name |
| 13829838 | CV580759 | single nucleotide variant | NM_007325.5(GRIA3):c.2219T>C (p.Met740Thr) | Inborn genetic diseases [RCV002318626]|not provided [RCV003236839] | uncertain significance | X | 123465007 | 123465007 | Human | 1 | name |
| 14981527 | CV613542 | single nucleotide variant | NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) | Dystonic disorder [RCV001004013]|Epileptic encephalopathy [RCV001004014]|Intellectual disability [RCV000850209]|not provided [RCV003235385] | pathogenic|likely pathogenic|uncertain significance | X | 123480065 | 123480065 | Human | 12 | name |
| 15124294 | CV743123 | single nucleotide variant | NM_007325.5(GRIA3):c.1772G>A (p.Arg591His) | not provided [RCV000896561]|not specified [RCV004997475] | benign|likely benign | X | 123417673 | 123417673 | Human | | name |
| 21068859 | CV788948 | single nucleotide variant | NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) | Syndromic X-linked intellectual disability 94 [RCV000985029] | uncertain significance | X | 123464977 | 123464977 | Human | 1 | name |
| 21075174 | CV798155 | single nucleotide variant | NM_007325.5(GRIA3):c.1609C>G (p.Pro537Ala) | not provided [RCV000996010] | uncertain significance | X | 123417510 | 123417510 | Human | | name |
| 28885260 | CV860775 | single nucleotide variant | NM_007325.5(GRIA3):c.1780C>G (p.Gln594Glu) | not provided [RCV001091710] | uncertain significance | X | 123417681 | 123417681 | Human | | name |
| 39456594 | CV965766 | single nucleotide variant | NM_007325.5(GRIA3):c.1961C>T (p.Ala654Val) | Global developmental delay [RCV001255420] | likely pathogenic | X | 123428024 | 123428024 | Human | 2 | name |
| 40814414 | CV969421 | single nucleotide variant | NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) | Intellectual disability [RCV001260624]|Syndromic X-linked intellectual disability 94 [RCV003509662]|not provided [RCV002537607] | likely pathogenic|uncertain significance | X | 123404762 | 123404762 | Human | 3 | name |
| 40814415 | CV969422 | single nucleotide variant | NM_007325.5(GRIA3):c.1474G>A (p.Gly492Ser) | Intellectual disability [RCV001260625] | uncertain significance | X | 123404888 | 123404888 | Human | 2 | name |
| 40814412 | CV969423 | single nucleotide variant | NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) | Intellectual disability [RCV001260622]|Seizure [RCV001849494]|not provided [RCV001556968] | pathogenic|likely pathogenic | X | 123427951 | 123427951 | Human | 4 | name |
| 40814413 | CV969424 | single nucleotide variant | NM_007325.5(GRIA3):c.2575C>T (p.Leu859Phe) | Intellectual disability [RCV001260623]|not provided [RCV002537606] | likely benign|uncertain significance | X | 123482934 | 123482934 | Human | 2 | name |
| 40889600 | CV972700 | single nucleotide variant | NM_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 significance | X | 123464886 | 123464886 | Human | 3 | name |
| 40886781 | CV974283 | single nucleotide variant | NM_007325.5(GRIA3):c.1952A>G (p.Asn651Ser) | Inborn genetic diseases [RCV001266022] | uncertain significance | X | 123428015 | 123428015 | Human | 1 | name |
| 41406522 | CV983238 | single nucleotide variant | NM_007325.5(GRIA3):c.2552G>A (p.Arg851Gln) | not provided [RCV001288624] | uncertain significance | X | 123482911 | 123482911 | Human | | name |
| 8640357 | CV99342 | single nucleotide variant | NM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg) | Syndromic X-linked intellectual disability 94 [RCV002288578]|not provided [RCV000079321] | uncertain significance | X | 123417602 | 123417602 | Human | 1 | name |
| 152088402 | CV1626159 | indel | NM_007325.5(GRIA3):c.696+19_696+21delinsAAC | not provided [RCV002131741] | likely benign | X | 123326232 | 123326234 | Human | | name |
| 597876848 | CV3860182 | duplication | NM_007325.5(GRIA3):c.252_253dup (p.Ser85fs) | not provided [RCV005198391] | uncertain significance | X | 123185970 | 123185971 | Human | | name |
| 405120313 | CV3027078 | indel | NM_007325.5(GRIA3):c.2076+12_2076+13delinsAA | not provided [RCV003700650] | uncertain significance | X | 123428151 | 123428152 | Human | | name |
| 150545304 | CV1293114 | microsatellite | NM_007325.5(GRIA3):c.1755CAA[1] (p.Asn587del) | Inborn genetic diseases [RCV002405288]|not provided [RCV001762900] | uncertain significance | X | 123417655 | 123417657 | Human | | name |
| 152983031 | CV1677875 | duplication | NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs) | Syndromic X-linked intellectual disability 94 [RCV002250029] | pathogenic | X | 123404863 | 123404864 | Human | 1 | name |
| 402483376 | CV3001360 | duplication | NM_007325.5(GRIA3):c.2603_2606dup (p.Pro870fs) | not provided [RCV003686768] | uncertain significance | X | 123482959 | 123482960 | Human | | name |
| 405758515 | CV3234969 | deletion | NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs) | Syndromic X-linked intellectual disability 94 [RCV004017190] | likely pathogenic | X | 123403080 | 123403083 | Human | 1 | name |
| 14711903 | CV649660 | deletion | NM_000828.5(GRIA3):c.2428_2431del (p.Gly810fs) | not provided [RCV000819240] | uncertain significance | X | 123465777 | 123465780 | Human | | name |
| 151720528 | CV1420858 | inversion | NM_007325.5(GRIA3):c.1200_1201inv (p.Glu401Lys) | not provided [RCV002040010] | uncertain significance | X | 123403426 | 123403427 | Human | | name |
| 151350425 | CV1325337 | indel | NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys) | Syndromic X-linked intellectual disability 94 [RCV001814627] | pathogenic | X | 123428101 | 123428103 | Human | | name |
| 155720497 | CV1840518 | deletion | NM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del) | Inborn genetic diseases [RCV002432661] | likely pathogenic | X | 123464950 | 123464958 | Human | 1 | name |
| 13521598 | CV495891 | deletion | NM_007325.5(GRIA3):c.1608_1616del (p.Pro537_Lys539del) | not provided [RCV000599581] | likely pathogenic | X | 123417505 | 123417513 | Human | | name |
| 150546206 | CV1296163 | duplication | NM_007325.5(GRIA3):c.2291_2293dup (p.Tyr764_Gly765insAsp) | not provided [RCV001763453] | uncertain significance | X | 123465078 | 123465079 | Human | | name |