Kcnn2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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140 records found for search term Kcnn2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
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

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