| 598127100 | CV3882459 | single nucleotide variant | NM_021614.4(KCNN2):c.2019-2A>G | not provided [RCV005234011] | uncertain significance | 5 | 114493401 | 114493401 | Human | | name |
| 38469893 | CV921448 | single nucleotide variant | NM_021614.4(KCNN2):c.1890+2T>C | Global developmental delay [RCV001201175]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV003151833] | likely pathogenic | 5 | 114473166 | 114473166 | Human | 6 | name |
| 8580256 | CV114686 | single nucleotide variant | NM_001278204.1(KCNN2):c.339-1804T>C | Lung cancer [RCV000095209] | uncertain significance | 5 | 114491599 | 114491599 | Human | | name |
| 8580255 | CV114685 | single nucleotide variant | NM_001278204.1(KCNN2):c.-43-43358A>G | Lung cancer [RCV000095208] | uncertain significance | 5 | 114419691 | 114419691 | Human | | name |
| 597831808 | CV3863940 | duplication | NM_021614.4(KCNN2):c.1890+3_1890+6dup | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV005208354] | uncertain significance | 5 | 114473163 | 114473164 | Human | 1 | name |
| 401917813 | CV2827940 | single nucleotide variant | NM_021614.4(KCNN2):c.354G>T (p.Ser118=) | not provided [RCV003429733] | likely benign | 5 | 114362493 | 114362493 | Human | | name |
| 596941869 | CV3543895 | single nucleotide variant | NM_021614.4(KCNN2):c.960G>A (p.Lys320=) | not specified [RCV004799885] | likely benign | 5 | 114363099 | 114363099 | Human | | name |
| 598128482 | CV3887686 | single nucleotide variant | NM_021614.4(KCNN2):c.972G>A (p.Lys324=) | not provided [RCV005243860] | likely benign | 5 | 114363111 | 114363111 | Human | | name |
| 617149549 | CV4021371 | single nucleotide variant | NM_021614.4(KCNN2):c.95A>T (p.Gln32Leu) | not provided [RCV005425340] | uncertain significance | 5 | 114362234 | 114362234 | Human | | name |
| 401830096 | CV2743981 | single nucleotide variant | NM_021614.4(KCNN2):c.2253C>T (p.Phe751=) | not provided [RCV003327158] | benign|likely benign | 5 | 114496059 | 114496059 | Human | | name |
| 401917816 | CV2827944 | single nucleotide variant | NM_021614.4(KCNN2):c.1203C>T (p.His401=) | not provided [RCV003429736] | likely benign | 5 | 114363986 | 114363986 | Human | | name |
| 405265151 | CV3185503 | single nucleotide variant | NM_021614.4(KCNN2):c.2202C>T (p.His734=) | not provided [RCV003886067] | likely benign | 5 | 114496008 | 114496008 | Human | | name |
| 405260046 | CV3186532 | single nucleotide variant | NM_021614.4(KCNN2):c.1015C>T (p.Leu339=) | not provided [RCV003884291] | likely benign | 5 | 114363154 | 114363154 | Human | | name |
| 408387326 | CV3524502 | duplication | NM_021614.4(KCNN2):c.747dup (p.Ala250fs) | not provided [RCV004768376] | uncertain significance | 5 | 114362880 | 114362881 | Human | | name |
| 597854378 | CV3762377 | single nucleotide variant | NM_021614.4(KCNN2):c.2343C>T (p.Ser781=) | not specified [RCV005088293] | likely benign | 5 | 114496149 | 114496149 | Human | | name |
| 598126427 | CV3881909 | single nucleotide variant | NM_021614.4(KCNN2):c.196T>A (p.Cys66Ser) | not provided [RCV005233461] | uncertain significance | 5 | 114362335 | 114362335 | Human | | name |
| 616939987 | CV4014288 | single nucleotide variant | NM_021614.4(KCNN2):c.2034A>G (p.Lys678=) | not provided [RCV005413782] | likely benign | 5 | 114493418 | 114493418 | Human | | name |
| 151734415 | CV1409613 | single nucleotide variant | NM_021614.4(KCNN2):c.838G>T (p.Val280Leu) | not provided [RCV001911217] | uncertain significance | 5 | 114362977 | 114362977 | Human | | name |
| 155795380 | CV1861266 | single nucleotide variant | NM_021614.4(KCNN2):c.919G>A (p.Gly307Ser) | not provided [RCV002469548] | uncertain significance | 5 | 114363058 | 114363058 | Human | | name |
| 156315337 | CV1901180 | single nucleotide variant | NM_021614.4(KCNN2):c.698G>T (p.Arg233Leu) | not provided [RCV002578921] | uncertain significance | 5 | 114362837 | 114362837 | Human | | name |
| 156039473 | CV2026316 | single nucleotide variant | NM_021614.4(KCNN2):c.995A>G (p.Lys332Arg) | not provided [RCV002736127] | uncertain significance | 5 | 114363134 | 114363134 | Human | | name |
| 156173144 | CV2037902 | single nucleotide variant | NM_021614.4(KCNN2):c.674C>T (p.Pro225Leu) | not provided [RCV002741921] | uncertain significance | 5 | 114362813 | 114362813 | Human | | name |
| 329352239 | CV2452122 | single nucleotide variant | NM_021614.4(KCNN2):c.670C>G (p.Arg224Gly) | Inborn genetic diseases [RCV003200323] | uncertain significance | 5 | 114362809 | 114362809 | Human | 1 | name |
| 329353499 | CV2466780 | single nucleotide variant | NM_021614.4(KCNN2):c.838G>A (p.Val280Met) | Inborn genetic diseases [RCV003201304] | uncertain significance | 5 | 114362977 | 114362977 | Human | 1 | name |
| 329355711 | CV2477560 | duplication | NM_021614.4(KCNN2):c.1977dup (p.Val660fs) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV003223507] | likely pathogenic | 5 | 114487132 | 114487133 | Human | 1 | name |
| 329847958 | CV2667577 | single nucleotide variant | NM_021614.4(KCNN2):c.637A>G (p.Met213Val) | not provided [RCV003229144] | uncertain significance | 5 | 114362776 | 114362776 | Human | | name |
| 401748988 | CV2692892 | single nucleotide variant | NM_021614.4(KCNN2):c.718G>C (p.Asp240His) | Inborn genetic diseases [RCV003276362] | uncertain significance | 5 | 114362857 | 114362857 | Human | 1 | name |
| 401774237 | CV2702666 | single nucleotide variant | NM_021614.4(KCNN2):c.934G>C (p.Gly312Arg) | Inborn genetic diseases [RCV003262479] | uncertain significance | 5 | 114363073 | 114363073 | Human | 1 | name |
| 401871590 | CV2749562 | single nucleotide variant | NM_021614.4(KCNN2):c.971A>G (p.Lys324Arg) | not provided [RCV003332690] | uncertain significance | 5 | 114363110 | 114363110 | Human | | name |
| 401875271 | CV2749924 | single nucleotide variant | NM_021614.4(KCNN2):c.866A>G (p.Asn289Ser) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV003333330] | uncertain significance | 5 | 114363005 | 114363005 | Human | 1 | name |
| 401914982 | CV2827939 | single nucleotide variant | NM_021614.4(KCNN2):c.329C>T (p.Ser110Leu) | not provided [RCV003428581] | uncertain significance | 5 | 114362468 | 114362468 | Human | | name |
| 401914984 | CV2827941 | single nucleotide variant | NM_021614.4(KCNN2):c.485G>C (p.Ser162Thr) | not provided [RCV003428582] | uncertain significance | 5 | 114362624 | 114362624 | Human | | name |
| 401917814 | CV2827942 | single nucleotide variant | NM_021614.4(KCNN2):c.743C>T (p.Pro248Leu) | not provided [RCV003429734] | uncertain significance | 5 | 114362882 | 114362882 | Human | | name |
| 401917815 | CV2827943 | single nucleotide variant | NM_021614.4(KCNN2):c.940G>C (p.Gly314Arg) | not provided [RCV003429735] | uncertain significance | 5 | 114363079 | 114363079 | Human | | name |
| 401944176 | CV2840540 | single nucleotide variant | NM_021614.4(KCNN2):c.842C>T (p.Ser281Phe) | Inborn genetic diseases [RCV004634265]|not provided [RCV003457130] | uncertain significance | 5 | 114362981 | 114362981 | Human | 1 | name |
| 405174092 | CV2853566 | single nucleotide variant | NM_021614.4(KCNN2):c.842C>G (p.Ser281Cys) | not provided [RCV003542597] | uncertain significance | 5 | 114362981 | 114362981 | Human | | name |
| 405261452 | CV3186135 | single nucleotide variant | NM_021614.4(KCNN2):c.782C>G (p.Pro261Arg) | not provided [RCV003885211] | uncertain significance | 5 | 114362921 | 114362921 | Human | | name |
| 405259653 | CV3186364 | single nucleotide variant | NM_021614.4(KCNN2):c.314C>T (p.Ser105Leu) | not provided [RCV003884123] | uncertain significance | 5 | 114362453 | 114362453 | Human | | name |
| 405657215 | CV3228511 | duplication | NM_021614.4(KCNN2):c.1384dup (p.Thr462fs) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004006243] | pathogenic | 5 | 114404601 | 114404602 | Human | 1 | name |
| 405807010 | CV3264991 | single nucleotide variant | NM_021614.4(KCNN2):c.743C>A (p.Pro248His) | Inborn genetic diseases [RCV004406339] | uncertain significance | 5 | 114362882 | 114362882 | Human | 1 | name |
| 405807014 | CV3264993 | single nucleotide variant | NM_021614.4(KCNN2):c.904A>C (p.Thr302Pro) | Inborn genetic diseases [RCV004406341] | uncertain significance | 5 | 114363043 | 114363043 | Human | 1 | name |
| 405855209 | CV3393971 | single nucleotide variant | NM_021614.4(KCNN2):c.428A>C (p.Tyr143Ser) | Dystonia 34, myoclonic [RCV004547197]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004723606] | uncertain significance | 5 | 114362567 | 114362567 | Human | 2 | name |
| 405855288 | CV3394050 | single nucleotide variant | NM_021614.4(KCNN2):c.353C>T (p.Ser118Leu) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004547276] | uncertain significance | 5 | 114362492 | 114362492 | Human | 1 | name |
| 405866543 | CV3400953 | single nucleotide variant | NM_021614.4(KCNN2):c.331T>G (p.Ser111Ala) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004577068] | uncertain significance | 5 | 114362470 | 114362470 | Human | 1 | name |
| 408368475 | CV3500654 | single nucleotide variant | NM_021614.4(KCNN2):c.572C>T (p.Pro191Leu) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004723728] | uncertain significance | 5 | 114362711 | 114362711 | Human | 1 | name |
| 408394627 | CV3521546 | single nucleotide variant | NM_021614.4(KCNN2):c.547T>C (p.Ser183Pro) | Dystonia 34, myoclonic [RCV004764343]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004764344] | uncertain significance | 5 | 114362686 | 114362686 | Human | 2 | name |
| 408393788 | CV3526210 | single nucleotide variant | NM_021614.4(KCNN2):c.533C>T (p.Ser178Phe) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004771642] | uncertain significance | 5 | 114362672 | 114362672 | Human | 1 | name |
| 408393888 | CV3526265 | single nucleotide variant | NM_021614.4(KCNN2):c.594G>C (p.Gln198His) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004771697] | uncertain significance | 5 | 114362733 | 114362733 | Human | 1 | name |
| 408389461 | CV3529428 | single nucleotide variant | NM_021614.4(KCNN2):c.979C>G (p.Gln327Glu) | not provided [RCV004774250] | uncertain significance | 5 | 114363118 | 114363118 | Human | | name |
| 596921933 | CV3535562 | single nucleotide variant | NM_021614.4(KCNN2):c.781C>G (p.Pro261Ala) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004785117] | uncertain significance | 5 | 114362920 | 114362920 | Human | 1 | name |
| 596926308 | CV3542233 | single nucleotide variant | NM_021614.4(KCNN2):c.520G>A (p.Gly174Ser) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004796448] | uncertain significance | 5 | 114362659 | 114362659 | Human | 1 | name |
| 597708600 | CV3694733 | single nucleotide variant | NM_021614.4(KCNN2):c.734C>G (p.Pro245Arg) | Inborn genetic diseases [RCV004989804] | uncertain significance | 5 | 114362873 | 114362873 | Human | 1 | name |
| 598122433 | CV3889862 | single nucleotide variant | NM_021614.4(KCNN2):c.611A>G (p.Glu204Gly) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV005247966] | uncertain significance | 5 | 114362750 | 114362750 | Human | 1 | name |
| 598224144 | CV3892051 | single nucleotide variant | NM_021614.4(KCNN2):c.548C>A (p.Ser183Ter) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV005253390] | likely pathogenic | 5 | 114362687 | 114362687 | Human | 1 | name |
| 598260027 | CV3976250 | single nucleotide variant | NM_021614.4(KCNN2):c.931A>T (p.Ser311Cys) | Inborn genetic diseases [RCV005347541] | uncertain significance | 5 | 114363070 | 114363070 | Human | 1 | name |
| 617149909 | CV4021276 | single nucleotide variant | NM_021614.4(KCNN2):c.440C>A (p.Ser147Tyr) | not provided [RCV005425245] | likely benign | 5 | 114362579 | 114362579 | Human | | name |
| 617149547 | CV4021372 | single nucleotide variant | NM_021614.4(KCNN2):c.410G>C (p.Ser137Thr) | not provided [RCV005425341] | uncertain significance | 5 | 114362549 | 114362549 | Human | | name |
| 617151521 | CV4021858 | single nucleotide variant | NM_021614.4(KCNN2):c.857A>G (p.Asn286Ser) | not provided [RCV005426819] | uncertain significance | 5 | 114362996 | 114362996 | Human | | name |
| 13530969 | CV511549 | single nucleotide variant | NM_021614.4(KCNN2):c.724G>C (p.Glu242Gln) | Inborn genetic diseases [RCV000622934] | uncertain significance | 5 | 114362863 | 114362863 | Human | 1 | name |
| 150551426 | CV1292705 | single nucleotide variant | NM_021614.4(KCNN2):c.1207A>G (p.Arg403Gly) | not provided [RCV001754313] | uncertain significance | 5 | 114363990 | 114363990 | Human | | name |
| 151661266 | CV1329778 | single nucleotide variant | NM_021614.4(KCNN2):c.1748G>A (p.Gly583Glu) | Dystonia 34, myoclonic [RCV001822969]|not provided [RCV005251291] | pathogenic|uncertain significance | 5 | 114463159 | 114463159 | Human | 1 | name |
| 151663699 | CV1334165 | single nucleotide variant | NM_021614.4(KCNN2):c.1235A>G (p.Asn412Ser) | KCNN2-related Neurodevelopmental movement disorder [RCV001839339] | uncertain significance | 5 | 114404454 | 114404454 | Human | | name , trait |
| 153346466 | CV1691743 | single nucleotide variant | NM_021614.4(KCNN2):c.1771G>C (p.Gly591Arg) | Neurodevelopmental disorder [RCV002273226] | likely pathogenic | 5 | 114463182 | 114463182 | Human | 1 | name |
| 155268177 | CV1701634 | single nucleotide variant | NM_021614.4(KCNN2):c.1970A>G (p.His657Arg) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV002283863] | uncertain significance | 5 | 114487129 | 114487129 | Human | 1 | name |
| 155943134 | CV1935446 | single nucleotide variant | NM_021614.4(KCNN2):c.1499T>C (p.Ile500Thr) | Inborn genetic diseases [RCV002574742]|not provided [RCV002511192] | likely pathogenic|uncertain significance | 5 | 114404718 | 114404718 | Human | 1 | name |
| 156237387 | CV2193556 | single nucleotide variant | NM_021614.4(KCNN2):c.1831C>A (p.Leu611Ile) | Inborn genetic diseases [RCV002645348] | uncertain significance | 5 | 114473105 | 114473105 | Human | 1 | name |
| 155901938 | CV2274600 | single nucleotide variant | NM_021614.4(KCNN2):c.2312G>A (p.Arg771Gln) | Inborn genetic diseases [RCV002836631] | likely benign | 5 | 114496118 | 114496118 | Human | 1 | name |
| 156268501 | CV2305767 | single nucleotide variant | NM_021614.4(KCNN2):c.2267T>G (p.Met756Arg) | Inborn genetic diseases [RCV002920951] | uncertain significance | 5 | 114496073 | 114496073 | Human | 1 | name |
| 156060217 | CV2391852 | single nucleotide variant | NM_021614.4(KCNN2):c.1976A>G (p.Lys659Arg) | Inborn genetic diseases [RCV002759872] | uncertain significance | 5 | 114487135 | 114487135 | Human | 1 | name |
| 329355607 | CV2477510 | single nucleotide variant | NM_021614.4(KCNN2):c.1193T>C (p.Ile398Thr) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV003223457] | uncertain significance | 5 | 114363976 | 114363976 | Human | 1 | name |
| 329848126 | CV2667745 | single nucleotide variant | NM_021614.4(KCNN2):c.1324C>T (p.Pro442Ser) | not provided [RCV003229312] | uncertain significance | 5 | 114404543 | 114404543 | Human | | name |
| 329954082 | CV2669408 | single nucleotide variant | NM_021614.4(KCNN2):c.1299A>G (p.Ile433Met) | not provided [RCV003231916] | uncertain significance | 5 | 114404518 | 114404518 | Human | | name |
| 401730128 | CV2700450 | single nucleotide variant | NM_021614.4(KCNN2):c.2308T>C (p.Ser770Pro) | Inborn genetic diseases [RCV003271222] | uncertain significance | 5 | 114496114 | 114496114 | Human | 1 | name |
| 401730130 | CV2700451 | single nucleotide variant | NM_021614.4(KCNN2):c.1031A>G (p.Lys344Arg) | Inborn genetic diseases [RCV003271223] | uncertain significance | 5 | 114363170 | 114363170 | Human | 1 | name |
| 401726804 | CV2736181 | single nucleotide variant | NM_021614.4(KCNN2):c.1004A>G (p.His335Arg) | not provided [RCV003312629] | uncertain significance | 5 | 114363143 | 114363143 | Human | | name |
| 401726809 | CV2736182 | single nucleotide variant | NM_021614.4(KCNN2):c.1325C>T (p.Pro442Leu) | not provided [RCV003312630] | uncertain significance | 5 | 114404544 | 114404544 | Human | | name |
| 401796438 | CV2740624 | single nucleotide variant | NM_021614.4(KCNN2):c.1988A>T (p.His663Leu) | not provided [RCV003321294] | uncertain significance | 5 | 114487147 | 114487147 | Human | | name |
| 401828147 | CV2744517 | single nucleotide variant | NM_021614.4(KCNN2):c.1708T>C (p.Ser570Pro) | not provided [RCV003327914] | uncertain significance | 5 | 114463119 | 114463119 | Human | | name |
| 401926554 | CV2798644 | single nucleotide variant | NM_021614.4(KCNN2):c.1054A>G (p.Ile352Val) | KCNN2-related disorder [RCV003405974] | uncertain significance | 5 | 114363193 | 114363193 | Human | | name , trait , alternate_id |
| 401924303 | CV2801097 | single nucleotide variant | NM_021614.4(KCNN2):c.2344A>G (p.Thr782Ala) | KCNN2-related disorder [RCV003404686]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004731529] | likely benign|uncertain significance | 5 | 114496150 | 114496150 | Human | 2 | name , trait , alternate_id |
| 401914986 | CV2827945 | single nucleotide variant | NM_021614.4(KCNN2):c.2362T>C (p.Ser788Pro) | Inborn genetic diseases [RCV004364605]|not provided [RCV003428583] | uncertain significance | 5 | 114496168 | 114496168 | Human | 1 | name |
| 405270282 | CV3187606 | single nucleotide variant | NM_001372233.1(KCNN2):c.52C>T (p.Pro18Ser) | not provided [RCV003887690] | uncertain significance | 5 | 114361993 | 114361993 | Human | | name |
| 405807012 | CV3264992 | single nucleotide variant | NM_021614.4(KCNN2):c.2332C>T (p.Arg778Trp) | Inborn genetic diseases [RCV004406340] | uncertain significance | 5 | 114496138 | 114496138 | Human | 1 | name |
| 405807016 | CV3264994 | single nucleotide variant | NM_021614.4(KCNN2):c.1000G>A (p.Gly334Ser) | Inborn genetic diseases [RCV004406342] | uncertain significance | 5 | 114363139 | 114363139 | Human | 1 | name |
| 405807018 | CV3264995 | single nucleotide variant | NM_021614.4(KCNN2):c.1391C>G (p.Ala464Gly) | Inborn genetic diseases [RCV004406343] | uncertain significance | 5 | 114404610 | 114404610 | Human | 1 | name |
| 407516506 | CV3445136 | single nucleotide variant | NM_021614.4(KCNN2):c.2144T>C (p.Phe715Ser) | Inborn genetic diseases [RCV004628219] | uncertain significance | 5 | 114495950 | 114495950 | Human | 1 | name |
| 407516509 | CV3445137 | single nucleotide variant | NM_021614.4(KCNN2):c.2318C>T (p.Ser773Leu) | Inborn genetic diseases [RCV004628220] | uncertain significance | 5 | 114496124 | 114496124 | Human | 1 | name |
| 407511811 | CV3445138 | single nucleotide variant | NM_021614.4(KCNN2):c.2212G>C (p.Gly738Arg) | Inborn genetic diseases [RCV004626585] | uncertain significance | 5 | 114496018 | 114496018 | Human | 1 | name |
| 407573359 | CV3499161 | single nucleotide variant | NM_021614.4(KCNN2):c.2191G>A (p.Gly731Ser) | not specified [RCV004700133] | uncertain significance | 5 | 114495997 | 114495997 | Human | | name |
| 408370282 | CV3503019 | single nucleotide variant | NM_021614.4(KCNN2):c.1686G>C (p.Trp562Cys) | not provided [RCV004724140] | uncertain significance | 5 | 114463097 | 114463097 | Human | | name |
| 408393391 | CV3519798 | single nucleotide variant | NM_021614.4(KCNN2):c.1083G>A (p.Met361Ile) | not provided [RCV004764094] | uncertain significance | 5 | 114363222 | 114363222 | Human | | name |
| 408391332 | CV3523151 | single nucleotide variant | NM_021614.4(KCNN2):c.1721G>A (p.Gly574Asp) | not provided [RCV004770523] | uncertain significance | 5 | 114463132 | 114463132 | Human | | name |
| 408391697 | CV3523325 | single nucleotide variant | NM_021614.4(KCNN2):c.2242C>T (p.Gln748Ter) | not provided [RCV004770698] | uncertain significance | 5 | 114496048 | 114496048 | Human | | name |
| 596931182 | CV3531515 | single nucleotide variant | NM_021614.4(KCNN2):c.1741T>C (p.Tyr581His) | not provided [RCV004781077] | uncertain significance | 5 | 114463152 | 114463152 | Human | | name |
| 596923619 | CV3531991 | single nucleotide variant | NM_021614.4(KCNN2):c.1352C>T (p.Ala451Val) | not provided [RCV004777102] | uncertain significance | 5 | 114404571 | 114404571 | Human | | name |
| 596927139 | CV3532501 | single nucleotide variant | NM_021614.4(KCNN2):c.1714G>A (p.Gly572Ser) | not provided [RCV004778599] | uncertain significance | 5 | 114463125 | 114463125 | Human | | name |
| 597708580 | CV3694730 | single nucleotide variant | NM_021614.4(KCNN2):c.1940A>G (p.Lys647Arg) | Inborn genetic diseases [RCV004989801] | likely benign | 5 | 114487099 | 114487099 | Human | 1 | name |
| 597708587 | CV3694731 | single nucleotide variant | NM_021614.4(KCNN2):c.2188A>G (p.Ile730Val) | Inborn genetic diseases [RCV004989802]|not specified [RCV005241059] | uncertain significance | 5 | 114495994 | 114495994 | Human | 1 | name |
| 597708593 | CV3694732 | single nucleotide variant | NM_021614.4(KCNN2):c.2278G>A (p.Asp760Asn) | Inborn genetic diseases [RCV004989803] | uncertain significance | 5 | 114496084 | 114496084 | Human | 1 | name |
| 597708608 | CV3694735 | single nucleotide variant | NM_021614.4(KCNN2):c.1225A>G (p.Met409Val) | Inborn genetic diseases [RCV004989805] | uncertain significance | 5 | 114404444 | 114404444 | Human | 1 | name |
| 597708613 | CV3694736 | single nucleotide variant | NM_021614.4(KCNN2):c.2050C>A (p.Leu684Met) | Inborn genetic diseases [RCV004989806] | uncertain significance | 5 | 114493434 | 114493434 | Human | 1 | name |
| 597708619 | CV3694737 | single nucleotide variant | NM_021614.4(KCNN2):c.2113A>T (p.Ile705Phe) | Inborn genetic diseases [RCV004989807] | uncertain significance | 5 | 114495919 | 114495919 | Human | 1 | name |
| 597663795 | CV3728228 | single nucleotide variant | NM_021614.4(KCNN2):c.2294A>G (p.Tyr765Cys) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV005043101] | uncertain significance | 5 | 114496100 | 114496100 | Human | 1 | name |
| 597715537 | CV3733197 | single nucleotide variant | NM_021614.4(KCNN2):c.1711A>G (p.Ile571Val) | not provided [RCV005052386] | uncertain significance | 5 | 114463122 | 114463122 | Human | | name |
| 597717226 | CV3733326 | single nucleotide variant | NM_021614.4(KCNN2):c.1048G>A (p.Ala350Thr) | not provided [RCV005052516] | uncertain significance | 5 | 114363187 | 114363187 | Human | | name |
| 597831983 | CV3864022 | single nucleotide variant | NM_021614.4(KCNN2):c.2306G>A (p.Arg769Gln) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV005208438] | uncertain significance | 5 | 114496112 | 114496112 | Human | 1 | name |
| 598125952 | CV3883372 | single nucleotide variant | NM_021614.4(KCNN2):c.1685G>T (p.Trp562Leu) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV005233243] | likely pathogenic | 5 | 114463096 | 114463096 | Human | 1 | name |
| 598124698 | CV3883646 | single nucleotide variant | NM_021614.4(KCNN2):c.2146G>C (p.Glu716Gln) | not provided [RCV005236000] | uncertain significance | 5 | 114495952 | 114495952 | Human | | name |
| 598128953 | CV3886756 | single nucleotide variant | NM_021614.4(KCNN2):c.2255T>C (p.Ile752Thr) | not provided [RCV005244416] | likely benign | 5 | 114496061 | 114496061 | Human | | name |
| 598128606 | CV3887811 | single nucleotide variant | NM_021614.4(KCNN2):c.1072A>T (p.Ile358Phe) | not provided [RCV005243985] | uncertain significance | 5 | 114363211 | 114363211 | Human | | name |
| 598127391 | CV3888169 | single nucleotide variant | NM_021614.4(KCNN2):c.1496G>A (p.Ser499Asn) | not provided [RCV005242855] | uncertain significance | 5 | 114404715 | 114404715 | Human | | name |
| 598202301 | CV3892854 | single nucleotide variant | NM_021614.4(KCNN2):c.1234A>G (p.Asn412Asp) | not provided [RCV005255184] | uncertain significance | 5 | 114404453 | 114404453 | Human | | name |
| 598260022 | CV3976247 | single nucleotide variant | NM_021614.4(KCNN2):c.1993C>T (p.Arg665Ter) | Inborn genetic diseases [RCV005347540] | pathogenic | 5 | 114487152 | 114487152 | Human | 1 | name |
| 598235502 | CV3976248 | single nucleotide variant | NM_021614.4(KCNN2):c.2072T>C (p.Leu691Ser) | Inborn genetic diseases [RCV005363675] | uncertain significance | 5 | 114493456 | 114493456 | Human | 1 | name |
| 598213117 | CV3976249 | single nucleotide variant | NM_021614.4(KCNN2):c.1075G>T (p.Val359Leu) | Inborn genetic diseases [RCV005358933] | uncertain significance | 5 | 114363214 | 114363214 | Human | 1 | name |
| 598260030 | CV3976251 | single nucleotide variant | NM_021614.4(KCNN2):c.2311C>T (p.Arg771Trp) | Inborn genetic diseases [RCV005347542] | uncertain significance | 5 | 114496117 | 114496117 | Human | 1 | name |
| 598235507 | CV3976253 | single nucleotide variant | NM_021614.4(KCNN2):c.1852G>A (p.Val618Met) | Inborn genetic diseases [RCV005363676] | uncertain significance | 5 | 114473126 | 114473126 | Human | 1 | name |
| 616938559 | CV4015042 | single nucleotide variant | NM_021614.4(KCNN2):c.1652A>C (p.Gln551Pro) | not provided [RCV005412058] | uncertain significance | 5 | 114463063 | 114463063 | Human | | name |
| 616939249 | CV4015579 | single nucleotide variant | NM_021614.4(KCNN2):c.1015C>G (p.Leu339Val) | not provided [RCV005413091] | uncertain significance | 5 | 114363154 | 114363154 | Human | | name |
| 617153724 | CV4016801 | single nucleotide variant | NM_021614.4(KCNN2):c.1769C>A (p.Thr590Asn) | not provided [RCV005415898] | uncertain significance | 5 | 114463180 | 114463180 | Human | | name |
| 38469914 | CV921253 | single nucleotide variant | NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter) | Global developmental delay [RCV001201168]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV001822865] | pathogenic|likely pathogenic | 5 | 114363255 | 114363255 | Human | 6 | name |
| 38469903 | CV921256 | single nucleotide variant | NM_021614.4(KCNN2):c.1713T>G (p.Ile571Met) | Global developmental delay [RCV001201171]|not specified [RCV001815025] | pathogenic|uncertain significance | 5 | 114463124 | 114463124 | Human | 2 | name |
| 38457391 | CV921257 | single nucleotide variant | NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys) | Cerebellar ataxia [RCV001201172]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV003224884] | likely pathogenic | 5 | 114463129 | 114463129 | Human | 6 | name |
| 38469900 | CV921258 | single nucleotide variant | NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser) | Global developmental delay [RCV001201173]|not provided [RCV001859215] | pathogenic|likely pathogenic | 5 | 114463131 | 114463131 | Human | 2 | name |
| 38469897 | CV921259 | single nucleotide variant | NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val) | Global developmental delay [RCV001201174] | pathogenic | 5 | 114473072 | 114473072 | Human | 2 | name |
| 38457395 | CV921260 | single nucleotide variant | NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro) | Cerebellar ataxia [RCV001201176]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV001822867] | pathogenic | 5 | 114487090 | 114487090 | Human | 6 | name |
| 407424682 | CV3409333 | single nucleotide variant | NM_001372233.1(KCNN2):c.114G>C (p.Gln38His) | not provided [RCV004585264] | likely benign | 5 | 114362055 | 114362055 | Human | | name |
| 405269824 | CV3187502 | microsatellite | NM_021614.4(KCNN2):c.725_726del (p.Glu242fs) | not provided [RCV003887586] | uncertain significance | 5 | 114362862 | 114362863 | Human | | name |
| 408385136 | CV3505748 | duplication | NM_021614.4(KCNN2):c.488_494dup (p.Ser168fs) | KCNN2-related disorder [RCV004732420] | uncertain significance | 5 | 114362621 | 114362622 | Human | | name , trait , alternate_id |
| 15165899 | CV698734 | microsatellite | NM_021614.4(KCNN2):c.798CGC[5] (p.Ala270dup) | KCNN2-related disorder [RCV004754644]|not provided [RCV000948704] | benign | 5 | 114362934 | 114362935 | Human | | name , trait , alternate_id |
| 597663825 | CV3732469 | duplication | NM_021614.4(KCNN2):c.1960_1961dup (p.Ile655fs) | not provided [RCV005003938] | pathogenic | 5 | 114487115 | 114487116 | Human | | name |
| 13532939 | CV511550 | deletion | NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del) | Global developmental delay [RCV001201170]|Inborn genetic diseases [RCV000624710]|KCNN2-related disorder [RCV003424193] | pathogenic|likely pathogenic | 5 | 114404815 | 114404817 | Human | 4 | name , trait , alternate_id |
| 38469910 | CV921255 | indel | NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser) | Global developmental delay [RCV001201169]|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV001822866] | pathogenic|likely pathogenic | 5 | 114404717 | 114404718 | Human | | name |
| 408394008 | CV3526325 | microsatellite | NM_021614.4(KCNN2):c.335GCT[7] (p.Cys117_Ser118insCys) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV004771757] | uncertain significance | 5 | 114362471 | 114362472 | Human | | name |
| 408390190 | CV3524969 | duplication | NM_021614.4(KCNN2):c.1698_1700dup (p.Thr567_Phe568insThr) | not provided [RCV004769864] | likely pathogenic | 5 | 114463108 | 114463109 | Human | | name |
| 598128756 | CV3886553 | microsatellite | NM_021614.4(KCNN2):c.798CGC[6] (p.Ala270_Val271insAlaAla) | not provided [RCV005244213] | likely benign | 5 | 114362934 | 114362935 | Human | | name |
| 38457386 | CV921254 | deletion | NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer) | Cerebellar ataxia [RCV001201167] | pathogenic | 5 | 114404652 | 114404655 | Human | 2 | name |
| 152999359 | CV1679791 | insertion | NM_021614.4(KCNN2):c.804_805insTCC (p.Ala268_Ala269insSer) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities [RCV002251180] | uncertain significance | 5 | 114362941 | 114362942 | Human | 1 | name |
| 407427661 | CV3410793 | insertion | NM_021614.4(KCNN2):c.800_801insTGC (p.Ala270_Val271insAla) | Dystonia 34, myoclonic [RCV004586440] | uncertain significance | 5 | 114362937 | 114362938 | Human | 1 | name |
| 329951805 | CV2671460 | duplication | NM_021614.4(KCNN2):c.428_439dup (p.Gln146_Ser147insTyrAlaGlnGln) | Dystonia 34, myoclonic [RCV003236684] | uncertain significance | 5 | 114362558 | 114362559 | Human | 1 | name |
