| 405278265 | CV3221759 | single nucleotide variant | NM_002088.5(GRIK5):c.904-5C>T | GRIK5-related disorder [RCV003976342] | benign | 19 | 42054477 | 42054477 | Human | | name , trait , alternate_id |
| 405257990 | CV3208049 | single nucleotide variant | NM_002088.5(GRIK5):c.2263+9C>T | GRIK5-related disorder [RCV003941508] | likely benign | 19 | 42005714 | 42005714 | Human | | name , trait , alternate_id |
| 12844860 | CV377744 | single nucleotide variant | NM_002088.4(GRIK5):c.1698-4A>T | not specified [RCV000438749] | likely benign | 19 | 42021478 | 42021478 | Human | | name |
| 401910551 | CV2808734 | single nucleotide variant | NM_002088.5(GRIK5):c.2514+908G>A | not provided [RCV003425195] | likely benign | 19 | 42002424 | 42002424 | Human | | name |
| 405270650 | CV3212058 | single nucleotide variant | NM_002088.5(GRIK5):c.2514+884C>G | GRIK5-related disorder [RCV003949439] | likely benign | 19 | 42002448 | 42002448 | Human | | name , trait , alternate_id |
| 401928849 | CV2808735 | single nucleotide variant | NM_002088.5(GRIK5):c.432C>T (p.Asp144=) | not provided [RCV003406991] | likely benign | 19 | 42062564 | 42062564 | Human | | name |
| 405294034 | CV3203365 | single nucleotide variant | NM_002088.5(GRIK5):c.657C>T (p.Asn219=) | GRIK5-related disorder [RCV003933914] | likely benign | 19 | 42059379 | 42059379 | Human | | name , trait , alternate_id |
| 405266155 | CV3221068 | single nucleotide variant | NM_002088.5(GRIK5):c.372G>A (p.Glu124=) | GRIK5-related disorder [RCV003969193] | likely benign | 19 | 42062624 | 42062624 | Human | | name , trait , alternate_id |
| 408379977 | CV3509225 | single nucleotide variant | NM_002088.5(GRIK5):c.903G>A (p.Ala301=) | GRIK5-related disorder [RCV004753855] | uncertain significance | 19 | 42056662 | 42056662 | Human | | name , trait , alternate_id |
| 597770739 | CV3678657 | single nucleotide variant | NM_002088.5(GRIK5):c.73C>T (p.Arg25Cys) | not specified [RCV004928339] | uncertain significance | 19 | 42065698 | 42065698 | Human | | name |
| 156228076 | CV2212925 | single nucleotide variant | NM_002088.5(GRIK5):c.229G>A (p.Glu77Lys) | not specified [RCV004091559] | uncertain significance | 19 | 42065238 | 42065238 | Human | | name |
| 156385026 | CV2231253 | single nucleotide variant | NM_002088.5(GRIK5):c.246G>C (p.Met82Ile) | not specified [RCV004094450] | uncertain significance | 19 | 42062854 | 42062854 | Human | | name |
| 156059808 | CV2239369 | single nucleotide variant | NM_002088.5(GRIK5):c.236C>T (p.Thr79Met) | not specified [RCV004114104] | uncertain significance | 19 | 42065231 | 42065231 | Human | | name |
| 156287973 | CV2288446 | single nucleotide variant | NM_002088.5(GRIK5):c.259C>G (p.Pro87Ala) | not specified [RCV004151991] | uncertain significance | 19 | 42062841 | 42062841 | Human | | name |
| 155930851 | CV2297094 | single nucleotide variant | NM_002088.5(GRIK5):c.160A>G (p.Ile54Val) | not specified [RCV004151003] | uncertain significance | 19 | 42065307 | 42065307 | Human | | name |
| 155966610 | CV2304778 | single nucleotide variant | NM_002088.5(GRIK5):c.205G>C (p.Glu69Gln) | not specified [RCV004166921] | uncertain significance | 19 | 42065262 | 42065262 | Human | | name |
| 156251504 | CV2368838 | single nucleotide variant | NM_002088.5(GRIK5):c.113G>A (p.Arg38His) | not specified [RCV004207800] | uncertain significance | 19 | 42065354 | 42065354 | Human | | name |
| 401868550 | CV2767270 | single nucleotide variant | NM_002088.5(GRIK5):c.115G>A (p.Gly39Ser) | not specified [RCV004349441] | uncertain significance | 19 | 42065352 | 42065352 | Human | | name |
| 401937252 | CV2808733 | single nucleotide variant | NM_002088.5(GRIK5):c.2706G>T (p.Ala902=) | not provided [RCV003415260] | likely benign | 19 | 41999108 | 41999108 | Human | | name |
| 405255801 | CV3210873 | single nucleotide variant | NM_002088.5(GRIK5):c.2010C>T (p.His670=) | GRIK5-related disorder [RCV003939373] | likely benign | 19 | 42006672 | 42006672 | Human | | name , trait , alternate_id |
| 405261050 | CV3215564 | single nucleotide variant | NM_002088.5(GRIK5):c.1026C>T (p.His342=) | GRIK5-related disorder [RCV003944294] | likely benign | 19 | 42054350 | 42054350 | Human | | name , trait , alternate_id |
| 405758658 | CV3262640 | single nucleotide variant | NM_002088.5(GRIK5):c.155A>G (p.Asn52Ser) | not specified [RCV004393858] | uncertain significance | 19 | 42065312 | 42065312 | Human | | name |
| 405758664 | CV3262641 | single nucleotide variant | NM_002088.5(GRIK5):c.166G>A (p.Glu56Lys) | not specified [RCV004393859] | uncertain significance | 19 | 42065301 | 42065301 | Human | | name |
| 597755782 | CV3678652 | single nucleotide variant | NM_002088.5(GRIK5):c.238G>T (p.Asp80Tyr) | not specified [RCV004924707] | uncertain significance | 19 | 42065229 | 42065229 | Human | | name |
| 597714580 | CV3733123 | single nucleotide variant | NM_002088.5(GRIK5):c.238G>A (p.Asp80Asn) | not provided [RCV005052312] | uncertain significance | 19 | 42065229 | 42065229 | Human | | name |
| 15194119 | CV705040 | single nucleotide variant | NM_002088.5(GRIK5):c.2076C>T (p.Tyr692=) | not provided [RCV000955559] | benign | 19 | 42005910 | 42005910 | Human | | name |
| 15165436 | CV728212 | single nucleotide variant | NM_002088.5(GRIK5):c.1167G>A (p.Gly389=) | GRIK5-related disorder [RCV003968005]|not provided [RCV000882411] | likely benign | 19 | 42053704 | 42053704 | Human | | name , trait , alternate_id |
| 155977422 | CV2218734 | single nucleotide variant | NM_002088.5(GRIK5):c.692C>T (p.Ser231Leu) | not specified [RCV004084659] | uncertain significance | 19 | 42056974 | 42056974 | Human | | name |
| 156122322 | CV2241078 | single nucleotide variant | NM_002088.5(GRIK5):c.401C>T (p.Ala134Val) | not specified [RCV004104118] | uncertain significance | 19 | 42062595 | 42062595 | Human | | name |
| 156067508 | CV2317927 | single nucleotide variant | NM_002088.5(GRIK5):c.620G>A (p.Arg207His) | not specified [RCV004177052] | uncertain significance | 19 | 42059416 | 42059416 | Human | | name |
| 156184946 | CV2346468 | single nucleotide variant | NM_002088.5(GRIK5):c.400G>A (p.Ala134Thr) | not specified [RCV004206393] | uncertain significance | 19 | 42062596 | 42062596 | Human | | name |
| 155959826 | CV2390591 | single nucleotide variant | NM_002088.5(GRIK5):c.433G>A (p.Val145Ile) | not specified [RCV004239118] | uncertain significance | 19 | 42062563 | 42062563 | Human | | name |
| 329381937 | CV2467428 | single nucleotide variant | NM_002088.5(GRIK5):c.376C>A (p.Pro126Thr) | not specified [RCV004287044] | uncertain significance | 19 | 42062620 | 42062620 | Human | | name |
| 401782024 | CV2690061 | single nucleotide variant | NM_002088.5(GRIK5):c.590G>A (p.Arg197Gln) | not specified [RCV004299933] | uncertain significance | 19 | 42059446 | 42059446 | Human | | name |
| 401860561 | CV2776098 | single nucleotide variant | NM_002088.5(GRIK5):c.965A>G (p.Asn322Ser) | not specified [RCV004353202] | uncertain significance | 19 | 42054411 | 42054411 | Human | | name |
| 401934787 | CV2802956 | single nucleotide variant | NM_002088.5(GRIK5):c.316G>T (p.Val106Leu) | GRIK5-related disorder [RCV003412216] | uncertain significance | 19 | 42062784 | 42062784 | Human | | name , trait , alternate_id |
| 405292448 | CV3192494 | single nucleotide variant | NM_002088.5(GRIK5):c.757C>T (p.His253Tyr) | GRIK5-related disorder [RCV003929751] | uncertain significance | 19 | 42056808 | 42056808 | Human | | name , trait , alternate_id |
| 405268151 | CV3198852 | single nucleotide variant | NM_002088.5(GRIK5):c.782C>T (p.Ser261Phe) | GRIK5-related disorder [RCV003911970] | likely benign | 19 | 42056783 | 42056783 | Human | | name , trait , alternate_id |
| 405758695 | CV3262646 | single nucleotide variant | NM_002088.5(GRIK5):c.352A>G (p.Ile118Val) | not specified [RCV004393864] | uncertain significance | 19 | 42062644 | 42062644 | Human | | name |
| 405758701 | CV3262647 | single nucleotide variant | NM_002088.5(GRIK5):c.679C>A (p.Leu227Ile) | not specified [RCV004393865] | uncertain significance | 19 | 42059357 | 42059357 | Human | | name |
| 405758706 | CV3262648 | single nucleotide variant | NM_002088.5(GRIK5):c.814A>G (p.Thr272Ala) | not specified [RCV004393866] | uncertain significance | 19 | 42056751 | 42056751 | Human | | name |
| 405758712 | CV3262649 | single nucleotide variant | NM_002088.5(GRIK5):c.881C>G (p.Ala294Gly) | not specified [RCV004393867] | uncertain significance | 19 | 42056684 | 42056684 | Human | | name |
| 407463362 | CV3433229 | single nucleotide variant | NM_002088.5(GRIK5):c.822C>A (p.His274Gln) | not specified [RCV004634806] | uncertain significance | 19 | 42056743 | 42056743 | Human | | name |
| 408384592 | CV3504364 | single nucleotide variant | NM_002088.5(GRIK5):c.481G>T (p.Ala161Ser) | GRIK5-related disorder [RCV004731936] | uncertain significance | 19 | 42062515 | 42062515 | Human | | name , trait , alternate_id |
| 597770722 | CV3678653 | single nucleotide variant | NM_002088.5(GRIK5):c.739A>G (p.Met247Val) | not specified [RCV004928336] | uncertain significance | 19 | 42056927 | 42056927 | Human | | name |
| 597770726 | CV3678654 | single nucleotide variant | NM_002088.5(GRIK5):c.928G>A (p.Ala310Thr) | not specified [RCV004928337] | uncertain significance | 19 | 42054448 | 42054448 | Human | | name |
| 597770743 | CV3678659 | single nucleotide variant | NM_002088.5(GRIK5):c.854A>C (p.Asn285Thr) | not specified [RCV004928340] | uncertain significance | 19 | 42056711 | 42056711 | Human | | name |
| 597755794 | CV3678660 | single nucleotide variant | NM_002088.5(GRIK5):c.376C>T (p.Pro126Ser) | not specified [RCV004924710] | uncertain significance | 19 | 42062620 | 42062620 | Human | | name |
| 597770749 | CV3678661 | single nucleotide variant | NM_002088.5(GRIK5):c.350A>T (p.His117Leu) | not specified [RCV004928341] | uncertain significance | 19 | 42062646 | 42062646 | Human | | name |
| 597770754 | CV3678663 | single nucleotide variant | NM_002088.5(GRIK5):c.778G>A (p.Asp260Asn) | not specified [RCV004928342] | uncertain significance | 19 | 42056787 | 42056787 | Human | | name |
| 598234714 | CV3978115 | single nucleotide variant | NM_002088.5(GRIK5):c.745T>A (p.Phe249Ile) | not specified [RCV005342951] | uncertain significance | 19 | 42056820 | 42056820 | Human | | name |
| 598188144 | CV3978117 | single nucleotide variant | NM_002088.5(GRIK5):c.931G>T (p.Val311Leu) | not specified [RCV005353803] | uncertain significance | 19 | 42054445 | 42054445 | Human | | name |
| 598234728 | CV3978120 | single nucleotide variant | NM_002088.5(GRIK5):c.388T>C (p.Tyr130His) | not specified [RCV005342953] | uncertain significance | 19 | 42062608 | 42062608 | Human | | name |
| 598234735 | CV3978121 | single nucleotide variant | NM_002088.5(GRIK5):c.441G>T (p.Leu147Phe) | not specified [RCV005342954] | uncertain significance | 19 | 42062555 | 42062555 | Human | | name |
| 598188157 | CV3978122 | single nucleotide variant | NM_002088.5(GRIK5):c.473A>G (p.Tyr158Cys) | not specified [RCV005353805] | uncertain significance | 19 | 42062523 | 42062523 | Human | | name |
| 8636849 | CV92074 | single nucleotide variant | NM_002088.4(GRIK5):c.475C>T (p.Pro159Ser) | Malignant melanoma [RCV000072172] | not provided | 19 | 42062521 | 42062521 | Human | | name |
| 8636850 | CV92075 | single nucleotide variant | NM_002088.4(GRIK5):c.452G>A (p.Arg151Gln) | Malignant melanoma [RCV000072173] | not provided | 19 | 42062544 | 42062544 | Human | | name |
| 156197224 | CV2259243 | single nucleotide variant | NM_002088.5(GRIK5):c.2816T>G (p.Ile939Ser) | not specified [RCV004122265] | uncertain significance | 19 | 41998998 | 41998998 | Human | | name |
| 156197238 | CV2259244 | single nucleotide variant | NM_002088.5(GRIK5):c.2825T>G (p.Leu942Arg) | not specified [RCV004122266] | uncertain significance | 19 | 41998989 | 41998989 | Human | | name |
| 156298859 | CV2310663 | single nucleotide variant | NM_002088.5(GRIK5):c.1837C>G (p.Arg613Gly) | not specified [RCV004157323] | uncertain significance | 19 | 42021335 | 42021335 | Human | | name |
| 156039893 | CV2310750 | single nucleotide variant | NM_002088.5(GRIK5):c.1394G>A (p.Arg465Gln) | not specified [RCV004157680] | uncertain significance | 19 | 42042631 | 42042631 | Human | | name |
| 156357483 | CV2318306 | single nucleotide variant | NM_002088.5(GRIK5):c.2830G>A (p.Ala944Thr) | not specified [RCV004179474] | uncertain significance | 19 | 41998984 | 41998984 | Human | | name |
| 156034345 | CV2338671 | single nucleotide variant | NM_002088.5(GRIK5):c.2240G>A (p.Gly747Asp) | not specified [RCV004182249] | uncertain significance | 19 | 42005746 | 42005746 | Human | | name |
| 156235833 | CV2346393 | single nucleotide variant | NM_002088.5(GRIK5):c.2777C>A (p.Pro926His) | not specified [RCV004203872] | uncertain significance | 19 | 41999037 | 41999037 | Human | | name |
| 156165809 | CV2348625 | single nucleotide variant | NM_002088.5(GRIK5):c.2296A>G (p.Ile766Val) | not specified [RCV004195850] | uncertain significance | 19 | 42003651 | 42003651 | Human | | name |
| 155997319 | CV2393297 | single nucleotide variant | NM_002088.5(GRIK5):c.2353G>C (p.Gly785Arg) | not specified [RCV004228807] | uncertain significance | 19 | 42003594 | 42003594 | Human | | name |
| 329374710 | CV2431019 | single nucleotide variant | NM_002088.5(GRIK5):c.1220A>G (p.Asn407Ser) | not specified [RCV004250392] | uncertain significance | 19 | 42053651 | 42053651 | Human | | name |
| 329397174 | CV2456665 | single nucleotide variant | NM_002088.5(GRIK5):c.2565C>G (p.Cys855Trp) | not specified [RCV004277845] | uncertain significance | 19 | 41999249 | 41999249 | Human | | name |
| 401725896 | CV2687340 | single nucleotide variant | NM_002088.5(GRIK5):c.1376G>A (p.Arg459His) | not specified [RCV004298271] | uncertain significance | 19 | 42042649 | 42042649 | Human | | name |
| 401749911 | CV2695874 | single nucleotide variant | NM_002088.5(GRIK5):c.1393C>T (p.Arg465Trp) | not specified [RCV004308153] | uncertain significance | 19 | 42042632 | 42042632 | Human | | name |
| 401763835 | CV2725322 | single nucleotide variant | NM_002088.5(GRIK5):c.1162A>G (p.Ile388Val) | not specified [RCV004319984] | uncertain significance | 19 | 42053709 | 42053709 | Human | | name |
| 401889799 | CV2763402 | single nucleotide variant | NM_002088.5(GRIK5):c.1744C>T (p.Arg582Cys) | not specified [RCV004349291] | uncertain significance | 19 | 42021428 | 42021428 | Human | | name |
| 401862674 | CV2768591 | single nucleotide variant | NM_002088.5(GRIK5):c.2134G>A (p.Val712Ile) | not specified [RCV004344452] | uncertain significance | 19 | 42005852 | 42005852 | Human | | name |
| 401886451 | CV2780364 | single nucleotide variant | NM_002088.5(GRIK5):c.2588G>C (p.Arg863Pro) | not specified [RCV004357766] | uncertain significance | 19 | 41999226 | 41999226 | Human | | name |
| 401895291 | CV2786331 | single nucleotide variant | NM_002088.5(GRIK5):c.2521G>C (p.Val841Leu) | not specified [RCV004361936] | uncertain significance | 19 | 41999293 | 41999293 | Human | | name |
| 401885045 | CV2786658 | single nucleotide variant | NM_002088.5(GRIK5):c.2770C>T (p.Pro924Ser) | not specified [RCV004363787] | uncertain significance | 19 | 41999044 | 41999044 | Human | | name |
| 401908213 | CV2801307 | single nucleotide variant | NM_002088.5(GRIK5):c.2359C>T (p.Arg787Trp) | GRIK5-related disorder [RCV003397548] | uncertain significance | 19 | 42003588 | 42003588 | Human | | name , trait , alternate_id |
| 401932701 | CV2804402 | single nucleotide variant | NM_002088.5(GRIK5):c.1426G>A (p.Glu476Lys) | GRIK5-related disorder [RCV003408789] | uncertain significance | 19 | 42042599 | 42042599 | Human | | name , trait , alternate_id |
| 405276232 | CV3206648 | single nucleotide variant | NM_002088.5(GRIK5):c.1054A>G (p.Met352Val) | GRIK5-related disorder [RCV003917089] | likely benign | 19 | 42054322 | 42054322 | Human | | name , trait , alternate_id |
| 405291871 | CV3221174 | single nucleotide variant | NM_002088.5(GRIK5):c.1742C>T (p.Ala581Val) | GRIK5-related disorder [RCV003964269] | likely benign | 19 | 42021430 | 42021430 | Human | | name , trait , alternate_id |
| 405758672 | CV3262642 | single nucleotide variant | NM_002088.5(GRIK5):c.2354G>A (p.Gly785Glu) | not specified [RCV004393860] | uncertain significance | 19 | 42003593 | 42003593 | Human | | name |
| 405758677 | CV3262643 | single nucleotide variant | NM_002088.5(GRIK5):c.2809C>G (p.Arg937Gly) | not specified [RCV004393861] | uncertain significance | 19 | 41999005 | 41999005 | Human | | name |
| 405758682 | CV3262644 | single nucleotide variant | NM_002088.5(GRIK5):c.2921G>A (p.Arg974Gln) | not specified [RCV004393862] | uncertain significance | 19 | 41998893 | 41998893 | Human | | name |
| 405758686 | CV3262645 | single nucleotide variant | NM_002088.5(GRIK5):c.2934G>T (p.Glu978Asp) | not specified [RCV004393863] | uncertain significance | 19 | 41998880 | 41998880 | Human | | name |
| 407463320 | CV3433220 | single nucleotide variant | NM_002088.5(GRIK5):c.1375C>T (p.Arg459Cys) | not specified [RCV004634797] | uncertain significance | 19 | 42042650 | 42042650 | Human | | name |
| 407463325 | CV3433221 | single nucleotide variant | NM_002088.5(GRIK5):c.2788G>T (p.Val930Leu) | not specified [RCV004634798] | uncertain significance | 19 | 41999026 | 41999026 | Human | | name |
| 407463331 | CV3433222 | single nucleotide variant | NM_002088.5(GRIK5):c.2521G>A (p.Val841Met) | not specified [RCV004634799] | uncertain significance | 19 | 41999293 | 41999293 | Human | | name |
| 407463340 | CV3433224 | single nucleotide variant | NM_002088.5(GRIK5):c.1366G>A (p.Glu456Lys) | not specified [RCV004634801] | uncertain significance | 19 | 42042659 | 42042659 | Human | | name |
| 407463345 | CV3433225 | single nucleotide variant | NM_002088.5(GRIK5):c.2567G>A (p.Arg856His) | not specified [RCV004634802] | uncertain significance | 19 | 41999247 | 41999247 | Human | | name |
| 407463349 | CV3433226 | single nucleotide variant | NM_002088.5(GRIK5):c.2560T>A (p.Ser854Thr) | not specified [RCV004634803] | uncertain significance | 19 | 41999254 | 41999254 | Human | | name |
| 407463353 | CV3433227 | single nucleotide variant | NM_002088.5(GRIK5):c.2561C>G (p.Ser854Cys) | not specified [RCV004634804] | uncertain significance | 19 | 41999253 | 41999253 | Human | | name |
| 407463358 | CV3433228 | single nucleotide variant | NM_002088.5(GRIK5):c.2567G>T (p.Arg856Leu) | not specified [RCV004634805] | uncertain significance | 19 | 41999247 | 41999247 | Human | | name |
| 597755786 | CV3678655 | single nucleotide variant | NM_002088.5(GRIK5):c.1156C>T (p.Arg386Cys) | not specified [RCV004924708] | uncertain significance | 19 | 42053830 | 42053830 | Human | | name |
| 597770733 | CV3678656 | single nucleotide variant | NM_002088.5(GRIK5):c.1242C>A (p.Asn414Lys) | not specified [RCV004928338] | uncertain significance | 19 | 42053629 | 42053629 | Human | | name |
| 597755790 | CV3678658 | single nucleotide variant | NM_002088.5(GRIK5):c.2131C>T (p.Arg711Cys) | not specified [RCV004924709] | uncertain significance | 19 | 42005855 | 42005855 | Human | | name |
| 597755798 | CV3678662 | single nucleotide variant | NM_002088.5(GRIK5):c.2750G>T (p.Ser917Ile) | not specified [RCV004924711] | uncertain significance | 19 | 41999064 | 41999064 | Human | | name |
| 598188136 | CV3978116 | single nucleotide variant | NM_002088.5(GRIK5):c.2189G>A (p.Arg730Gln) | not specified [RCV005353802] | uncertain significance | 19 | 42005797 | 42005797 | Human | | name |
| 598188147 | CV3978119 | single nucleotide variant | NM_002088.5(GRIK5):c.2644G>A (p.Glu882Lys) | not specified [RCV005353804] | uncertain significance | 19 | 41999170 | 41999170 | Human | | name |
| 15104971 | CV705039 | single nucleotide variant | NM_002088.5(GRIK5):c.2495G>T (p.Arg832Met) | GRIK5-related disorder [RCV003978347]|not provided [RCV000959791] | benign | 19 | 42003351 | 42003351 | Human | | name , trait , alternate_id |