Ttbk2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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447 records found for search term Ttbk2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11595319	CV267743	single nucleotide variant	NM_173500.4(TTBK2):c.-8G>A	Spinocerebellar ataxia type 11 [RCV000369083]\|TTBK2-related disorder [RCV003977757]\|not provided [RCV000993256]\|not specified [RCV000304552]	benign\|likely benign	15	42878625	42878625	Human	1	name , trait , alternate_id
11611809	CV322532	single nucleotide variant	NM_173500.4(TTBK2):c.-51C>T	Spinocerebellar ataxia type 11 [RCV000399504]	likely benign\|uncertain significance	15	42878668	42878668	Human	1	name
28873907	CV873507	single nucleotide variant	NM_173500.4(TTBK2):c.*33A>C	Spinocerebellar ataxia type 11 [RCV001115228]	likely benign	15	42745762	42745762	Human	1	name
11605968	CV322502	single nucleotide variant	NM_173500.4(TTBK2):c.*583A>T	Spinocerebellar ataxia type 11 [RCV000325736]\|not provided [RCV004703678]	likely benign	15	42745212	42745212	Human	1	name
11608300	CV322535	single nucleotide variant	NM_173500.4(TTBK2):c.-279C>A	Spinocerebellar ataxia type 11 [RCV000353200]	uncertain significance	15	42920649	42920649	Human	1	name
11613024	CV331888	single nucleotide variant	NM_173500.4(TTBK2):c.*744G>A	Spinocerebellar ataxia type 11 [RCV000264531]	uncertain significance	15	42745051	42745051	Human	1	name
11655881	CV331889	duplication	NM_173500.4(TTBK2):c.*690dup	Autosomal dominant cerebellar ataxia [RCV000329046]\|not provided [RCV004693214]	uncertain significance	15	42745104	42745105	Human	1	name
11658582	CV331893	single nucleotide variant	NM_173500.4(TTBK2):c.*507T>G	Spinocerebellar ataxia type 11 [RCV000350328]	uncertain significance	15	42745288	42745288	Human	1	name
11612627	CV331902	single nucleotide variant	NM_173500.3(TTBK2):c.-413G>C	Spinocerebellar ataxia type 11 [RCV000260911]	benign\|uncertain significance	15	42920783	42920783	Human	1	name
11613374	CV338881	single nucleotide variant	NM_173500.4(TTBK2):c.*967G>A	Spinocerebellar ataxia type 11 [RCV000267926]	uncertain significance	15	42744828	42744828	Human	1	name
11622342	CV338890	single nucleotide variant	NM_173500.4(TTBK2):c.*847T>C	Spinocerebellar ataxia type 11 [RCV000359317]	uncertain significance	15	42744948	42744948	Human	1	name
11624726	CV338891	single nucleotide variant	NM_173500.4(TTBK2):c.*581A>T	Spinocerebellar ataxia type 11 [RCV000389633]	benign\|uncertain significance	15	42745214	42745214	Human	1	name
11660594	CV338914	single nucleotide variant	NM_173500.4(TTBK2):c.-130G>C	Spinocerebellar ataxia type 11 [RCV000368348]	uncertain significance	15	42920500	42920500	Human	1	name
11612761	CV338921	single nucleotide variant	NM_173500.4(TTBK2):c.-250G>C	Spinocerebellar ataxia type 11 [RCV000262105]\|not provided [RCV004714946]	benign	15	42920620	42920620	Human	1	name
11617471	CV340507	single nucleotide variant	NM_173500.4(TTBK2):c.*966C>T	Spinocerebellar ataxia type 11 [RCV000304602]\|not provided [RCV002292523]	benign\|likely benign	15	42744829	42744829	Human	1	name
11624243	CV340510	single nucleotide variant	NM_173500.4(TTBK2):c.*678A>G	Spinocerebellar ataxia type 11 [RCV000383780]	likely benign	15	42745117	42745117	Human	1	name
11646492	CV340512	single nucleotide variant	NM_173500.4(TTBK2):c.*604T>C	Spinocerebellar ataxia type 11 [RCV000270589]	uncertain significance	15	42745191	42745191	Human	1	name
11616537	CV340513	single nucleotide variant	NM_173500.4(TTBK2):c.*580T>A	Spinocerebellar ataxia type 11 [RCV000295371]	uncertain significance	15	42745215	42745215	Human	1	name
11624465	CV340514	single nucleotide variant	NM_173500.4(TTBK2):c.*482C>G	Spinocerebellar ataxia type 11 [RCV000386244]\|not provided [RCV004705311]	likely benign	15	42745313	42745313	Human	1	name
28888002	CV873501	single nucleotide variant	NM_173500.4(TTBK2):c.*953A>G	Spinocerebellar ataxia type 11 [RCV001119800]	uncertain significance	15	42744842	42744842	Human	1	name
28893656	CV873502	single nucleotide variant	NM_173500.4(TTBK2):c.*598G>A	Spinocerebellar ataxia type 11 [RCV001121788]	uncertain significance	15	42745197	42745197	Human	1	name
28873895	CV873503	single nucleotide variant	NM_173500.4(TTBK2):c.*548C>T	Spinocerebellar ataxia type 11 [RCV001115224]	uncertain significance	15	42745247	42745247	Human	1	name
28873898	CV873504	single nucleotide variant	NM_173500.4(TTBK2):c.*536T>C	Spinocerebellar ataxia type 11 [RCV001115225]	uncertain significance	15	42745259	42745259	Human	1	name
28873902	CV873505	single nucleotide variant	NM_173500.4(TTBK2):c.*490T>C	Spinocerebellar ataxia type 11 [RCV001115226]	benign	15	42745305	42745305	Human	1	name
28873905	CV873506	single nucleotide variant	NM_173500.4(TTBK2):c.*185A>G	Spinocerebellar ataxia type 11 [RCV001115227]	likely benign	15	42745610	42745610	Human	1	name
28889543	CV873522	single nucleotide variant	NM_173500.4(TTBK2):c.-125C>G	Spinocerebellar ataxia type 11 [RCV001120290]	uncertain significance	15	42920495	42920495	Human	1	name
28889549	CV873523	single nucleotide variant	NM_173500.4(TTBK2):c.-184G>C	Spinocerebellar ataxia type 11 [RCV001120291]	uncertain significance	15	42920554	42920554	Human	1	name
28889552	CV873524	single nucleotide variant	NM_173500.4(TTBK2):c.-282A>C	Spinocerebellar ataxia type 11 [RCV001120292]	uncertain significance	15	42920652	42920652	Human	1	name
28874317	CV873525	single nucleotide variant	NM_173500.4(TTBK2):c.-321C>A	Spinocerebellar ataxia type 11 [RCV001115401]	uncertain significance	15	42920691	42920691	Human	1	name
156233923	CV1956141	single nucleotide variant	NM_173500.4(TTBK2):c.538-8C>T	not provided [RCV002575979]	likely benign	15	42817105	42817105	Human		name
156134996	CV2048020	single nucleotide variant	NM_173500.4(TTBK2):c.69+20A>T	not provided [RCV002800751]	benign	15	42878529	42878529	Human		name
402517511	CV2936406	single nucleotide variant	NM_173500.4(TTBK2):c.291+4G>T	not provided [RCV003662973]	uncertain significance	15	42840356	42840356	Human		name
405253508	CV3178232	single nucleotide variant	NM_173500.4(TTBK2):c.603+9C>T	not provided [RCV003871013]	likely benign	15	42817023	42817023	Human		name
11616859	CV331887	single nucleotide variant	NM_173500.4(TTBK2):c.*1311G>A	Spinocerebellar ataxia type 11 [RCV000298331]	likely benign	15	42744484	42744484	Human	1	name
11621843	CV338880	single nucleotide variant	NM_173500.4(TTBK2):c.*1153G>A	Spinocerebellar ataxia type 11 [RCV000353255]\|not provided [RCV003401328]	likely benign\|uncertain significance	15	42744642	42744642	Human	1	name
11615877	CV340533	single nucleotide variant	NM_173500.4(TTBK2):c.980+8C>A	Spinocerebellar ataxia type 11 [RCV000289980]\|not provided [RCV000960792]\|not specified [RCV001289310]	benign\|likely benign	15	42794636	42794636	Human	1	name
11666960	CV353320	single nucleotide variant	NM_173500.4(TTBK2):c.*1463G>A	Autosomal dominant cerebellar ataxia [RCV000400451]	likely benign	15	42744332	42744332	Human	1	name
28887994	CV873499	single nucleotide variant	NM_173500.4(TTBK2):c.*1243C>T	Spinocerebellar ataxia type 11 [RCV001119798]	uncertain significance	15	42744552	42744552	Human	1	name
28887998	CV873500	single nucleotide variant	NM_173500.4(TTBK2):c.*1162T>A	Spinocerebellar ataxia type 11 [RCV001119799]	benign	15	42744633	42744633	Human	1	name
150473620	CV1217660	single nucleotide variant	NM_173500.4(TTBK2):c.538-90G>A	not provided [RCV001615671]	benign	15	42817187	42817187	Human		name
150493151	CV1225609	single nucleotide variant	NM_173500.4(TTBK2):c.69+123C>T	not provided [RCV001619125]	benign	15	42878426	42878426	Human		name
150452347	CV1276719	deletion	NM_173500.4(TTBK2):c.603+89del	not provided [RCV001708508]	benign	15	42816943	42816943	Human		name
150516022	CV1285734	deletion	NM_173500.4(TTBK2):c.603+87del	not provided [RCV001723187]	benign	15	42816945	42816945	Human		name
150504117	CV1285892	single nucleotide variant	NM_173500.4(TTBK2):c.603+87A>T	not provided [RCV001719315]	benign	15	42816945	42816945	Human		name
153000206	CV1683634	single nucleotide variant	NM_173500.4(TTBK2):c.603+17G>C	not provided [RCV002254089]	benign\|likely benign	15	42817015	42817015	Human		name
153000276	CV1683650	single nucleotide variant	NM_173500.4(TTBK2):c.433-74A>G	not provided [RCV002254105]	likely benign	15	42828106	42828106	Human		name
156022764	CV2040776	single nucleotide variant	NM_173500.4(TTBK2):c.538-15A>G	not provided [RCV002795665]	likely benign	15	42817112	42817112	Human		name
155984653	CV2070308	single nucleotide variant	NM_173500.4(TTBK2):c.432+16A>G	not provided [RCV002842684]	likely benign	15	42829922	42829922	Human		name
156302877	CV2156657	single nucleotide variant	NM_173500.4(TTBK2):c.217+17A>G	not provided [RCV003010469]	likely benign	15	42872594	42872594	Human		name
401963842	CV2843356	single nucleotide variant	NM_173500.4(TTBK2):c.3273-8C>A	not specified [RCV003479698]	uncertain significance	15	42746265	42746265	Human		name
405207455	CV2913684	single nucleotide variant	NM_173500.4(TTBK2):c.696+15G>A	not provided [RCV003566634]	likely benign	15	42811673	42811673	Human		name
402505949	CV2947441	single nucleotide variant	NM_173500.4(TTBK2):c.981-18T>A	not provided [RCV003661910]	likely benign	15	42783653	42783653	Human		name
404991177	CV2995089	single nucleotide variant	NM_173500.4(TTBK2):c.604-12T>C	not provided [RCV003692269]	likely benign	15	42811792	42811792	Human		name
405227478	CV3142900	single nucleotide variant	NM_173500.4(TTBK2):c.291+18C>T	not provided [RCV003848243]	likely benign	15	42840342	42840342	Human		name
405220613	CV3154344	single nucleotide variant	NM_173500.4(TTBK2):c.980+13C>T	not provided [RCV003847036]	likely benign	15	42794631	42794631	Human		name
405140361	CV3155145	single nucleotide variant	NM_173500.4(TTBK2):c.538-15A>T	not provided [RCV003855383]	likely benign	15	42817112	42817112	Human		name
11653538	CV331899	single nucleotide variant	NM_173500.4(TTBK2):c.-68+15C>G	Spinocerebellar ataxia type 11 [RCV000311410]	uncertain significance	15	42920423	42920423	Human	1	name
596920675	CV3534126	single nucleotide variant	NM_173500.4(TTBK2):c.604-10G>A	not specified [RCV004783344]	likely benign	15	42811790	42811790	Human		name
15106271	CV788149	single nucleotide variant	NM_173500.4(TTBK2):c.1197+7G>C	not provided [RCV000976600]	likely benign	15	42783412	42783412	Human		name
150482530	CV1223440	single nucleotide variant	NM_173500.4(TTBK2):c.292-212G>A	not provided [RCV001617153]	benign	15	42830290	42830290	Human		name
150442650	CV1233734	single nucleotide variant	NM_173500.4(TTBK2):c.696+121G>A	not provided [RCV001645422]	benign	15	42811567	42811567	Human		name
150430317	CV1242927	duplication	NM_173500.4(TTBK2):c.981-124dup	not provided [RCV001662860]	benign	15	42783744	42783745	Human		name
150496332	CV1272862	single nucleotide variant	NM_173500.4(TTBK2):c.-67-240T>A	not provided [RCV001688785]	benign	15	42878924	42878924	Human		name
150475359	CV1279042	single nucleotide variant	NM_173500.4(TTBK2):c.3273-36A>G	not provided [RCV001713829]	benign	15	42746293	42746293	Human		name
150515001	CV1285393	single nucleotide variant	NM_173500.4(TTBK2):c.980+105C>A	not provided [RCV001722846]	benign	15	42794539	42794539	Human		name
150515009	CV1285396	single nucleotide variant	NM_173500.4(TTBK2):c.1197+86G>A	not provided [RCV001722849]	benign	15	42783333	42783333	Human		name
150515019	CV1285399	single nucleotide variant	NM_173500.4(TTBK2):c.822+219G>A	not provided [RCV001722852]	benign	15	42810395	42810395	Human	3	name
150515714	CV1285634	single nucleotide variant	NM_173500.4(TTBK2):c.-67-138A>G	not provided [RCV001723087]	benign	15	42878822	42878822	Human		name
150515726	CV1285638	single nucleotide variant	NM_173500.4(TTBK2):c.538-184A>T	not provided [RCV001723091]	benign	15	42817281	42817281	Human		name
151233294	CV1317770	deletion	NM_173500.4(TTBK2):c.538-185del	not provided [RCV001787536]	benign	15	42817282	42817282	Human		name
152154145	CV1667843	single nucleotide variant	NM_173500.4(TTBK2):c.217+206C>G	not provided [RCV002221735]	likely benign	15	42872405	42872405	Human		name
152980586	CV1676018	single nucleotide variant	NM_173500.4(TTBK2):c.980+187A>T	not provided [RCV002244607]	likely benign	15	42794457	42794457	Human		name
153000097	CV1683608	single nucleotide variant	NM_173500.4(TTBK2):c.433-248G>A	not provided [RCV002254063]	likely benign	15	42828280	42828280	Human		name
153348777	CV1692821	single nucleotide variant	NM_173500.4(TTBK2):c.822+214T>G	not provided [RCV002274677]	likely benign	15	42810400	42810400	Human		name
153348812	CV1692857	deletion	NM_173500.4(TTBK2):c.432+145del	not provided [RCV002274713]	likely benign	15	42829793	42829793	Human		name
156219219	CV2047814	single nucleotide variant	NM_173500.4(TTBK2):c.1998+18A>T	not provided [RCV002790566]	likely benign	15	42775117	42775117	Human		name
405151182	CV2892159	single nucleotide variant	NM_173500.4(TTBK2):c.1999-14T>C	not provided [RCV003561664]	likely benign	15	42753261	42753261	Human		name
11605442	CV322533	microsatellite	NM_173500.4(TTBK2):c.-281GCC[5]	Autosomal dominant cerebellar ataxia [RCV000319628]	likely benign	15	42920634	42920636	Human		name
597916987	CV3737460	single nucleotide variant	NM_173500.4(TTBK2):c.3273-13C>T	not provided [RCV005074249]	likely benign	15	42746270	42746270	Human		name
597905684	CV3772967	single nucleotide variant	NM_173500.4(TTBK2):c.1999-15C>T	not provided [RCV005113032]	likely benign	15	42753262	42753262	Human		name
150334695	CV1172707	microsatellite	NM_173500.4(TTBK2):c.69+21GT[19]	not provided [RCV001540188]	benign	15	42878492	42878493	Human		name
150465648	CV1240276	single nucleotide variant	NM_173500.4(TTBK2):c.3272+117T>C	not provided [RCV001650037]	benign	15	42751857	42751857	Human		name
150444694	CV1249455	single nucleotide variant	NM_173500.4(TTBK2):c.3272+145C>G	not provided [RCV001666888]	benign	15	42751829	42751829	Human		name
150468786	CV1257102	single nucleotide variant	NM_173500.4(TTBK2):c.1409+215G>A	not provided [RCV001670748]	benign	15	42776816	42776816	Human		name
150495562	CV1282985	single nucleotide variant	NM_173500.4(TTBK2):c.1410-153A>G	not provided [RCV001717407]	benign	15	42775876	42775876	Human		name
150495574	CV1282988	microsatellite	NM_173500.4(TTBK2):c.69+21GT[20]	not provided [RCV001717410]	benign	15	42878492	42878493	Human		name
151233397	CV1317068	microsatellite	NM_173500.4(TTBK2):c.69+21GT[17]	not provided [RCV001786889]	likely benign	15	42878493	42878494	Human		name
151232999	CV1317686	microsatellite	NM_173500.4(TTBK2):c.603+87AT[9]	not provided [RCV001787452]	likely benign	15	42816929	42816930	Human		name
152980160	CV1675867	microsatellite	NM_173500.4(TTBK2):c.604-151AT[8]	not provided [RCV002244458]	likely benign	15	42811917	42811918	Human		name
153000066	CV1683598	microsatellite	NM_173500.4(TTBK2):c.538-162CT[2]	not provided [RCV002254053]	likely benign	15	42817254	42817255	Human		name
156072676	CV1989121	microsatellite	NM_173500.4(TTBK2):c.69+7_69+8del	not provided [RCV002638647]	likely benign	15	42878541	42878542	Human		name
597965500	CV3751161	deletion	NM_173500.4(TTBK2):c.69+20_69+23del	not provided [RCV005082723]	likely benign	15	42878526	42878529	Human		name
405237754	CV2881266	single nucleotide variant	NM_173500.4(TTBK2):c.72G>A (p.Leu24=)	not provided [RCV003556736]	benign	15	42872756	42872756	Human		name
597853208	CV3758651	single nucleotide variant	NM_173500.4(TTBK2):c.7G>C (p.Gly3Arg)	not provided [RCV005088212]	uncertain significance	15	42878611	42878611	Human		name
8660995	CV136092	single nucleotide variant	NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)	Spinocerebellar ataxia type 11 [RCV000989295]\|not provided [RCV000993251]\|not specified [RCV000118718]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	42878595	42878595	Human	1	name
156361710	CV1899039	single nucleotide variant	NM_173500.4(TTBK2):c.210G>A (p.Lys70=)	not provided [RCV003091754]	likely benign	15	42872618	42872618	Human		name
405220873	CV2912751	single nucleotide variant	NM_173500.4(TTBK2):c.25G>T (p.Asp9Tyr)	not provided [RCV003568412]	uncertain significance	15	42878593	42878593	Human		name
402502909	CV3032546	single nucleotide variant	NM_173500.4(TTBK2):c.213G>A (p.Leu71=)	not provided [RCV003714927]\|not specified [RCV005000002]	likely benign	15	42872615	42872615	Human		name
596932787	CV3539440	single nucleotide variant	NM_173500.4(TTBK2):c.19C>G (p.Gln7Glu)	not provided [RCV004794064]	uncertain significance	15	42878599	42878599	Human		name
13484594	CV441742	single nucleotide variant	NM_173500.4(TTBK2):c.108C>T (p.Tyr36=)	not provided [RCV000518506]	likely benign	15	42872720	42872720	Human		name
21068278	CV793537	single nucleotide variant	NM_173500.4(TTBK2):c.144A>C (p.Ala48=)	not provided [RCV000993246]	benign\|likely benign	15	42872684	42872684	Human		name
21074590	CV797134	single nucleotide variant	NM_173500.4(TTBK2):c.288G>A (p.Leu96=)	not provided [RCV000995312]	uncertain significance	15	42840363	42840363	Human		name
150432369	CV1246268	single nucleotide variant	NM_173500.4(TTBK2):c.441C>T (p.Phe147=)	not provided [RCV003546710]\|not specified [RCV001663681]	benign\|likely benign	15	42828024	42828024	Human		name
152154135	CV1667841	deletion	NM_173500.4(TTBK2):c.538-186_538-185del	not provided [RCV002221733]	likely benign	15	42817282	42817283	Human		name
155801838	CV1864149	single nucleotide variant	NM_173500.4(TTBK2):c.477T>C (p.Cys159=)	not provided [RCV002475102]	uncertain significance	15	42827988	42827988	Human		name
156404882	CV1916768	single nucleotide variant	NM_173500.4(TTBK2):c.585C>A (p.Ile195=)	not provided [RCV002606201]	likely benign	15	42817050	42817050	Human		name
156233141	CV1965800	single nucleotide variant	NM_173500.4(TTBK2):c.549G>C (p.Val183=)	not provided [RCV002596881]	likely benign	15	42817086	42817086	Human		name
156343783	CV2099862	single nucleotide variant	NM_173500.4(TTBK2):c.882T>C (p.Pro294=)	not provided [RCV002900630]	likely benign	15	42794742	42794742	Human		name
155999801	CV2106692	single nucleotide variant	NM_173500.4(TTBK2):c.450T>A (p.Gly150=)	not provided [RCV002947732]	likely benign	15	42828015	42828015	Human		name
155976548	CV2146584	deletion	NM_173500.4(TTBK2):c.3272+10_3272+12del	not provided [RCV003016180]	likely benign	15	42751962	42751964	Human		name
402468220	CV2911475	single nucleotide variant	NM_173500.4(TTBK2):c.681A>G (p.Arg227=)	not provided [RCV003569854]	likely benign	15	42811703	42811703	Human		name
405080669	CV2945617	single nucleotide variant	NM_173500.4(TTBK2):c.516T>C (p.Asn172=)	not provided [RCV003664567]	likely benign	15	42827949	42827949	Human		name
405224545	CV3142207	single nucleotide variant	NM_173500.4(TTBK2):c.894G>A (p.Glu298=)	not provided [RCV003847746]	likely benign	15	42794730	42794730	Human		name
405172327	CV3150158	single nucleotide variant	NM_173500.4(TTBK2):c.915C>T (p.Ser305=)	not provided [RCV003841629]	likely benign	15	42794709	42794709	Human		name
405166411	CV3160582	single nucleotide variant	NM_173500.4(TTBK2):c.376T>C (p.Leu126=)	not provided [RCV003857462]	likely benign	15	42829994	42829994	Human		name
405854301	CV3393866	single nucleotide variant	NM_173500.4(TTBK2):c.83G>A (p.Gly28Glu)	not provided [RCV004547092]	uncertain significance	15	42872745	42872745	Human		name
597936423	CV3777661	single nucleotide variant	NM_173500.4(TTBK2):c.567A>G (p.Thr189=)	not provided [RCV005132574]	likely benign	15	42817068	42817068	Human		name
13482924	CV441740	single nucleotide variant	NM_173500.4(TTBK2):c.588C>T (p.Asn196=)	not specified [RCV000518006]	likely benign	15	42817047	42817047	Human		name
150447659	CV1015235	single nucleotide variant	NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)	Spinocerebellar ataxia type 11 [RCV001647210]	likely pathogenic	15	42840412	42840412	Human	1	name
150432354	CV1246263	single nucleotide variant	NM_173500.4(TTBK2):c.1698A>G (p.Thr566=)	not provided [RCV001663676]	uncertain significance	15	42775435	42775435	Human		name
8660996	CV136093	single nucleotide variant	NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)	Spinocerebellar ataxia type 11 [RCV000307130]\|not provided [RCV000955207]\|not specified [RCV000118719]	benign\|likely benign	15	42752654	42752654	Human	1	name
155801839	CV1864150	single nucleotide variant	NM_173500.4(TTBK2):c.2484A>G (p.Thr828=)	not provided [RCV002475103]	uncertain significance	15	42752762	42752762	Human		name
155801842	CV1864153	single nucleotide variant	NM_173500.4(TTBK2):c.112G>A (p.Ala38Thr)	not provided [RCV002475106]	uncertain significance	15	42872716	42872716	Human		name
156406440	CV1894972	single nucleotide variant	NM_173500.4(TTBK2):c.1482C>T (p.Cys494=)	not provided [RCV003070364]	likely benign	15	42775651	42775651	Human		name
156368992	CV1919949	single nucleotide variant	NM_173500.4(TTBK2):c.1521T>C (p.Tyr507=)	not provided [RCV002603030]	likely benign	15	42775612	42775612	Human		name
156434423	CV1940033	single nucleotide variant	NM_173500.4(TTBK2):c.2028T>A (p.Ser676=)	not provided [RCV003104450]	likely benign	15	42753218	42753218	Human		name
156411284	CV1977073	single nucleotide variant	NM_173500.4(TTBK2):c.2325G>A (p.Gly775=)	not provided [RCV002608209]	likely benign	15	42752921	42752921	Human		name
156405333	CV1994349	single nucleotide variant	NM_173500.4(TTBK2):c.296G>A (p.Arg99Gln)	not provided [RCV002658281]	uncertain significance	15	42830074	42830074	Human		name
156211236	CV2000980	single nucleotide variant	NM_173500.4(TTBK2):c.1116G>T (p.Leu372=)	not provided [RCV002666854]	likely benign	15	42783500	42783500	Human		name
156215415	CV2110913	single nucleotide variant	NM_173500.4(TTBK2):c.2157T>C (p.Gly719=)	not provided [RCV002932239]	likely benign	15	42753089	42753089	Human		name
156136555	CV2186383	single nucleotide variant	NM_173500.4(TTBK2):c.1369C>T (p.Leu457=)	not provided [RCV003056022]	likely benign	15	42777071	42777071	Human		name
155987882	CV2234151	single nucleotide variant	NM_173500.4(TTBK2):c.122T>C (p.Met41Thr)	Inborn genetic diseases [RCV002733046]	uncertain significance	15	42872706	42872706	Human	1	name
155991564	CV2255686	single nucleotide variant	NM_173500.4(TTBK2):c.272A>T (p.Tyr91Phe)	Inborn genetic diseases [RCV002778593]	uncertain significance	15	42840379	42840379	Human	1	name
329354573	CV2448430	single nucleotide variant	NM_173500.4(TTBK2):c.109G>A (p.Asp37Asn)	Inborn genetic diseases [RCV003202345]	uncertain significance	15	42872719	42872719	Human	1	name
329351663	CV2476584	single nucleotide variant	NM_173500.4(TTBK2):c.2889T>C (p.Ser963=)	TTBK2-related disorder [RCV003900986]\|not provided [RCV003222816]	likely benign	15	42752357	42752357	Human	1	name , trait , alternate_id
11643369	CV268887	single nucleotide variant	NM_173500.4(TTBK2):c.2859C>T (p.Asp953=)	not provided [RCV000391741]	uncertain significance	15	42752387	42752387	Human		name
401916203	CV2817501	single nucleotide variant	NM_173500.4(TTBK2):c.2850A>G (p.Gln950=)	not provided [RCV003400921]	likely benign	15	42752396	42752396	Human		name
401962483	CV2845105	single nucleotide variant	NM_173500.4(TTBK2):c.1200T>C (p.Ala400=)	not provided [RCV003482566]	uncertain significance	15	42777240	42777240	Human		name
402515257	CV2993213	single nucleotide variant	NM_173500.4(TTBK2):c.1356A>G (p.Glu452=)	not provided [RCV003716016]	likely benign	15	42777084	42777084	Human		name
405047186	CV3014268	single nucleotide variant	NM_173500.4(TTBK2):c.1842A>G (p.Ser614=)	not provided [RCV003696713]	likely benign	15	42775291	42775291	Human		name
405126251	CV3132771	single nucleotide variant	NM_173500.4(TTBK2):c.1053G>A (p.Gln351=)	not provided [RCV003837934]	likely benign	15	42783563	42783563	Human		name
405109953	CV3136906	single nucleotide variant	NM_173500.4(TTBK2):c.1746G>A (p.Glu582=)	not provided [RCV003836060]	likely benign	15	42775387	42775387	Human		name
402477382	CV3173845	single nucleotide variant	NM_173500.4(TTBK2):c.2580C>T (p.Asp860=)	not provided [RCV003875383]	likely benign	15	42752666	42752666	Human		name
11611378	CV322529	single nucleotide variant	NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)	Spinocerebellar ataxia type 11 [RCV000394223]\|TTBK2-related disorder [RCV004755871]\|not provided [RCV000881840]\|not specified [RCV001660652]	benign\|likely benign	15	42783557	42783557	Human	1	name , trait , alternate_id
11614431	CV340525	single nucleotide variant	NM_173500.4(TTBK2):c.2418A>G (p.Pro806=)	Spinocerebellar ataxia type 11 [RCV000276760]\|not provided [RCV000980289]	benign\|likely benign	15	42752828	42752828	Human	1	name
11620196	CV340526	single nucleotide variant	NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)	Spinocerebellar ataxia type 11 [RCV000334155]	uncertain significance	15	42752951	42752951	Human	1	name
408385814	CV3520364	single nucleotide variant	NM_173500.4(TTBK2):c.194T>C (p.Val65Ala)	not provided [RCV004760185]	uncertain significance	15	42872634	42872634	Human		name
596947441	CV3548996	single nucleotide variant	NM_173500.4(TTBK2):c.2937C>G (p.Val979=)	not provided [RCV004811320]	likely benign	15	42752309	42752309	Human		name
597953802	CV3844268	single nucleotide variant	NM_173500.4(TTBK2):c.2820T>C (p.Thr940=)	not provided [RCV005190940]	likely benign	15	42752426	42752426	Human		name
12899926	CV409230	single nucleotide variant	NM_173500.4(TTBK2):c.258T>A (p.Asn86Lys)	not provided [RCV000481264]	uncertain significance	15	42840393	42840393	Human		name
13481962	CV441731	single nucleotide variant	NM_173500.4(TTBK2):c.1929T>C (p.Ala643=)	not provided [RCV000957930]\|not specified [RCV000517731]	benign\|likely benign	15	42775204	42775204	Human		name
13479050	CV441741	single nucleotide variant	NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala)	not provided [RCV002525101]\|not specified [RCV000516868]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42840406	42840406	Human		name
13802220	CV577386	single nucleotide variant	NM_173500.4(TTBK2):c.2175A>G (p.Gly725=)	not provided [RCV000713768]	likely benign	15	42753071	42753071	Human		name
15100662	CV784926	single nucleotide variant	NM_173500.4(TTBK2):c.2466T>C (p.Pro822=)	not provided [RCV000975445]	likely benign	15	42752780	42752780	Human		name
21070703	CV793532	single nucleotide variant	NM_173500.4(TTBK2):c.1618C>T (p.Leu540=)	TTBK2-related disorder [RCV004756150]\|not provided [RCV000993247]	benign\|likely benign	15	42775515	42775515	Human	1	name , trait , alternate_id
21068282	CV793536	single nucleotide variant	NM_173500.4(TTBK2):c.187A>G (p.Met63Val)	Inborn genetic diseases [RCV005298665]\|not provided [RCV000993249]	uncertain significance	15	42872641	42872641	Human	1	name
26918497	CV842315	deletion	NM_173500.4(TTBK2):c.982del (p.Ile328fs)	not provided [RCV001043812]	uncertain significance	15	42783634	42783634	Human		name
28893921	CV873513	single nucleotide variant	NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)	Spinocerebellar ataxia type 11 [RCV001121887]	uncertain significance	15	42752318	42752318	Human	1	name
41407154	CV982913	single nucleotide variant	NM_173500.4(TTBK2):c.2598G>A (p.Gln866=)	not specified [RCV001289301]	benign	15	42752648	42752648	Human		name
41407153	CV982914	single nucleotide variant	NM_173500.4(TTBK2):c.2484A>C (p.Thr828=)	not provided [RCV002538377]\|not specified [RCV001289300]	benign	15	42752762	42752762	Human		name
126922488	CV1048933	single nucleotide variant	NM_173500.4(TTBK2):c.418C>G (p.Arg140Gly)	not provided [RCV001364731]	uncertain significance	15	42829952	42829952	Human		name
150432341	CV1246259	duplication	NM_173500.4(TTBK2):c.1232dup (p.Asn412fs)	not provided [RCV001663672]	pathogenic	15	42777207	42777208	Human		name
150432357	CV1246264	deletion	NM_173500.4(TTBK2):c.2983del (p.Leu995fs)	not provided [RCV001663677]	pathogenic	15	42752263	42752263	Human		name
150432372	CV1246269	single nucleotide variant	NM_173500.4(TTBK2):c.822G>C (p.Gln274His)	not provided [RCV001663682]	uncertain significance	15	42810614	42810614	Human		name
150553599	CV1303609	single nucleotide variant	NM_173500.4(TTBK2):c.943C>G (p.Pro315Ala)	not provided [RCV001769299]	uncertain significance	15	42794681	42794681	Human		name
150545253	CV1315503	single nucleotide variant	NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)	Spinocerebellar ataxia type 11 [RCV001783920]\|not provided [RCV004762179]	likely pathogenic\|uncertain significance	15	42830048	42830048	Human	1	name
8595177	CV15886	duplication	NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	Spinocerebellar ataxia type 11 [RCV000000895]\|not provided [RCV001818115]	pathogenic	15	42777110	42777111	Human	1	name
152031989	CV1671057	deletion	NM_173500.4(TTBK2):c.1675del (p.Gln559fs)	Spinocerebellar ataxia type 11 [RCV002226594]	likely pathogenic	15	42775458	42775458	Human	1	name
155801843	CV1864154	single nucleotide variant	NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)	not provided [RCV002475107]	conflicting interpretations of pathogenicity\|uncertain significance	15	42746059	42746059	Human		name
156350706	CV1886260	single nucleotide variant	NM_173500.4(TTBK2):c.3687T>C (p.Thr1229=)	not provided [RCV003090953]	benign	15	42745843	42745843	Human		name
156290616	CV1897482	single nucleotide variant	NM_173500.4(TTBK2):c.451C>T (p.Arg151Cys)	not provided [RCV002598738]	uncertain significance	15	42828014	42828014	Human		name
156445166	CV1945164	single nucleotide variant	NM_173500.4(TTBK2):c.596G>A (p.Arg199Gln)	not provided [RCV003116103]\|not specified [RCV003116104]	uncertain significance	15	42817039	42817039	Human		name
156072462	CV1968881	single nucleotide variant	NM_173500.4(TTBK2):c.3225T>C (p.Pro1075=)	not provided [RCV002621285]	likely benign	15	42752021	42752021	Human		name
155976946	CV1972206	single nucleotide variant	NM_173500.4(TTBK2):c.985G>A (p.Ala329Thr)	not provided [RCV002617430]	uncertain significance	15	42783631	42783631	Human		name
156124723	CV2021198	single nucleotide variant	NM_173500.4(TTBK2):c.932C>T (p.Thr311Ile)	not provided [RCV002740334]	uncertain significance	15	42794692	42794692	Human		name
155966668	CV2034317	single nucleotide variant	NM_173500.4(TTBK2):c.3696C>G (p.Pro1232=)	not provided [RCV002731426]	likely benign	15	42745834	42745834	Human		name
155938797	CV2041510	single nucleotide variant	NM_173500.4(TTBK2):c.625C>T (p.Leu209Phe)	not provided [RCV002775056]	uncertain significance	15	42811759	42811759	Human		name
156057571	CV2050721	single nucleotide variant	NM_173500.4(TTBK2):c.3675C>T (p.His1225=)	not provided [RCV002796981]	likely benign	15	42745855	42745855	Human		name
156054110	CV2089778	single nucleotide variant	NM_173500.4(TTBK2):c.3033T>G (p.Pro1011=)	not provided [RCV002867881]	likely benign	15	42752213	42752213	Human		name
156055618	CV2089841	single nucleotide variant	NM_173500.4(TTBK2):c.3447G>A (p.Arg1149=)	not provided [RCV002867928]	likely benign	15	42746083	42746083	Human		name
156021719	CV2105763	single nucleotide variant	NM_173500.4(TTBK2):c.3060C>T (p.Leu1020=)	not provided [RCV002923096]	likely benign	15	42752186	42752186	Human		name
156226772	CV2121846	single nucleotide variant	NM_173500.4(TTBK2):c.3210G>T (p.Ser1070=)	not provided [RCV002958356]	likely benign	15	42752036	42752036	Human		name
155994731	CV2171496	single nucleotide variant	NM_173500.4(TTBK2):c.385A>G (p.Ile129Val)	not provided [RCV003034492]	uncertain significance	15	42829985	42829985	Human		name
156335681	CV2228426	single nucleotide variant	NM_173500.4(TTBK2):c.617A>G (p.His206Arg)	Inborn genetic diseases [RCV002718520]	uncertain significance	15	42811767	42811767	Human	1	name
155961230	CV2285501	single nucleotide variant	NM_173500.4(TTBK2):c.922A>G (p.Thr308Ala)	Inborn genetic diseases [RCV002841338]	uncertain significance	15	42794702	42794702	Human	1	name
155998160	CV2288708	single nucleotide variant	NM_173500.4(TTBK2):c.712A>G (p.Ile238Val)	Inborn genetic diseases [RCV002883028]	uncertain significance	15	42810724	42810724	Human	1	name
156264601	CV2312107	single nucleotide variant	NM_173500.4(TTBK2):c.358C>T (p.Arg120Trp)	Inborn genetic diseases [RCV002920718]	uncertain significance	15	42830012	42830012	Human	1	name
156345534	CV2372937	single nucleotide variant	NM_173500.4(TTBK2):c.959G>A (p.Arg320His)	Inborn genetic diseases [RCV002674974]	uncertain significance	15	42794665	42794665	Human	1	name
243064275	CV2411322	single nucleotide variant	NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)	Spinocerebellar ataxia type 11 [RCV003142894]	uncertain significance	15	42810616	42810616	Human	1	name
401796697	CV2739677	deletion	NM_173500.4(TTBK2):c.1818del (p.Asn606fs)	not provided [RCV003319638]	uncertain significance	15	42775315	42775315	Human		name
401855591	CV2753009	single nucleotide variant	NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)	Spinocerebellar ataxia type 11 [RCV003338064]	uncertain significance	15	42830039	42830039	Human	1	name
401861052	CV2772690	single nucleotide variant	NM_173500.4(TTBK2):c.976A>G (p.Ile326Val)	Inborn genetic diseases [RCV003357632]	uncertain significance	15	42794648	42794648	Human	1	name
401896587	CV2791679	single nucleotide variant	NM_173500.4(TTBK2):c.850A>G (p.Ile284Val)	Inborn genetic diseases [RCV003374223]	uncertain significance	15	42794774	42794774	Human	1	name
401934432	CV2817503	single nucleotide variant	NM_173500.4(TTBK2):c.820C>G (p.Gln274Glu)	not provided [RCV003411179]	uncertain significance	15	42810616	42810616	Human		name
401916209	CV2817504	single nucleotide variant	NM_173500.4(TTBK2):c.643A>G (p.Met215Val)	not provided [RCV003400923]	uncertain significance	15	42811741	42811741	Human		name
401962486	CV2845108	single nucleotide variant	NM_173500.4(TTBK2):c.934T>A (p.Ser312Thr)	not provided [RCV003482569]	uncertain significance	15	42794690	42794690	Human		name
402492787	CV2877966	single nucleotide variant	NM_173500.4(TTBK2):c.3597C>T (p.Ser1199=)	not provided [RCV003545109]	likely benign	15	42745933	42745933	Human		name
402521013	CV3000416	single nucleotide variant	NM_173500.4(TTBK2):c.512C>T (p.Thr171Ile)	not provided [RCV003716431]	uncertain significance	15	42827953	42827953	Human		name
405194261	CV3066231	single nucleotide variant	NM_173500.4(TTBK2):c.835G>A (p.Val279Met)	not provided [RCV003729906]	uncertain significance	15	42794789	42794789	Human		name
405113227	CV3118678	single nucleotide variant	NM_173500.4(TTBK2):c.305C>T (p.Ala102Val)	Inborn genetic diseases [RCV004968472]\|not provided [RCV003813906]	uncertain significance	15	42830065	42830065	Human	1	name
405001425	CV3120565	single nucleotide variant	NM_173500.4(TTBK2):c.321C>G (p.Ser107Arg)	not provided [RCV003828167]	uncertain significance	15	42830049	42830049	Human		name
405213767	CV3143038	single nucleotide variant	NM_173500.4(TTBK2):c.3252G>A (p.Thr1084=)	not provided [RCV003846201]	likely benign	15	42751994	42751994	Human		name
11606973	CV322506	single nucleotide variant	NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)	Spinocerebellar ataxia type 11 [RCV000337906]\|not provided [RCV000415817]\|not specified [RCV001660650]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42745987	42745987	Human	1	name
11607764	CV322530	single nucleotide variant	NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala)	Spinocerebellar ataxia type 11 [RCV000347242]\|not provided [RCV000953695]\|not specified [RCV001289309]	benign\|likely benign	15	42794687	42794687	Human	1	name
405799478	CV3337285	single nucleotide variant	NM_173500.4(TTBK2):c.844A>G (p.Asn282Asp)	Inborn genetic diseases [RCV004476864]	uncertain significance	15	42794780	42794780	Human	1	name
11614875	CV340516	single nucleotide variant	NM_173500.4(TTBK2):c.3669C>T (p.His1223=)	Spinocerebellar ataxia type 11 [RCV000280550]\|not provided [RCV000960690]\|not specified [RCV001289308]	benign\|likely benign	15	42745861	42745861	Human	1	name
11625621	CV340536	single nucleotide variant	NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)	Inborn genetic diseases [RCV002522790]\|Spastic ataxia [RCV001642984]\|Spinocerebellar ataxia type 11 [RCV000400925]\|not provided [RCV001357218]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42817040	42817040	Human	4	name
407426740	CV3411540	duplication	NM_173500.4(TTBK2):c.2627dup (p.Asn876fs)	not provided [RCV004590718]	uncertain significance	15	42752618	42752619	Human		name
407528745	CV3487145	single nucleotide variant	NM_173500.4(TTBK2):c.998C>A (p.Pro333His)	Inborn genetic diseases [RCV004680546]\|not provided [RCV005059748]	uncertain significance	15	42783618	42783618	Human	1	name
596925673	CV3530546	single nucleotide variant	NM_173500.4(TTBK2):c.603G>T (p.Arg201Ser)	not provided [RCV004778131]	uncertain significance	15	42817032	42817032	Human		name
597634913	CV3618248	single nucleotide variant	NM_173500.4(TTBK2):c.448G>A (p.Gly150Ser)	Inborn genetic diseases [RCV004969474]\|not provided [RCV005109982]	uncertain significance	15	42828017	42828017	Human	1	name
597916912	CV3737450	single nucleotide variant	NM_173500.4(TTBK2):c.580T>C (p.Ser194Pro)	not provided [RCV005074239]	uncertain significance	15	42817055	42817055	Human		name
597837541	CV3758053	single nucleotide variant	NM_173500.4(TTBK2):c.3367C>A (p.Arg1123=)	not provided [RCV005085887]	likely benign	15	42746163	42746163	Human		name
616938680	CV4013206	single nucleotide variant	NM_173500.4(TTBK2):c.347G>A (p.Ser116Asn)	not provided [RCV005410673]	uncertain significance	15	42830023	42830023	Human		name
616936487	CV4016313	single nucleotide variant	NM_173500.4(TTBK2):c.551C>T (p.Ala184Val)	not provided [RCV005415179]	uncertain significance	15	42817084	42817084	Human		name
617152576	CV4020804	single nucleotide variant	NM_173500.4(TTBK2):c.577G>T (p.Ala193Ser)	not provided [RCV005428557]	uncertain significance	15	42817058	42817058	Human		name
13482418	CV441727	single nucleotide variant	NM_173500.4(TTBK2):c.3357T>G (p.Ser1119=)	not provided [RCV002527555]\|not specified [RCV000517859]	likely benign	15	42746173	42746173	Human		name
13802225	CV577384	single nucleotide variant	NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)	Spinocerebellar ataxia type 11 [RCV001119905]\|not provided [RCV000713770]	benign\|likely benign	15	42752225	42752225	Human	1	name
15175578	CV739621	single nucleotide variant	NM_173500.4(TTBK2):c.3258T>C (p.Pro1086=)	not provided [RCV000906249]\|not specified [RCV001664542]	likely benign	15	42751988	42751988	Human		name
15137697	CV754445	single nucleotide variant	NM_173500.4(TTBK2):c.3525C>T (p.His1175=)	not provided [RCV000921214]	likely benign	15	42746005	42746005	Human		name
15194842	CV754446	single nucleotide variant	NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)	Spinocerebellar ataxia type 11 [RCV001118370]\|not provided [RCV000911240]\|not specified [RCV004997489]	benign\|likely benign	15	42746110	42746110	Human	1	name
15172506	CV770155	single nucleotide variant	NM_173500.4(TTBK2):c.3612C>T (p.Cys1204=)	not provided [RCV000928128]	likely benign	15	42745918	42745918	Human		name
21068293	CV793535	single nucleotide variant	NM_173500.4(TTBK2):c.452G>A (p.Arg151His)	Inborn genetic diseases [RCV005298666]\|not provided [RCV005092992]\|not specified [RCV001644883]	likely benign\|uncertain significance	15	42828013	42828013	Human	1	name
21074611	CV797132	single nucleotide variant	NM_173500.4(TTBK2):c.3081A>G (p.Thr1027=)	not provided [RCV000995310]	conflicting interpretations of pathogenicity\|uncertain significance	15	42752165	42752165	Human		name
28883203	CV873511	single nucleotide variant	NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)	Spinocerebellar ataxia type 11 [RCV001118369]	uncertain significance	15	42746098	42746098	Human	1	name
28888323	CV873512	single nucleotide variant	NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)	Spinocerebellar ataxia type 11 [RCV001119903]	uncertain significance	15	42746194	42746194	Human	1	name
28883535	CV873518	single nucleotide variant	NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)	Spinocerebellar ataxia type 11 [RCV001118474]\|not provided [RCV003769164]	uncertain significance	15	42810736	42810736	Human	1	name
28888633	CV873519	single nucleotide variant	NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)	Spinocerebellar ataxia type 11 [RCV001119990]\|not provided [RCV004697045]	uncertain significance	15	42817046	42817046	Human	1	name
28888636	CV873520	single nucleotide variant	NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)	Spinocerebellar ataxia type 11 [RCV001119991]	uncertain significance	15	42817064	42817064	Human	1	name
28888640	CV873521	single nucleotide variant	NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)	Spinocerebellar ataxia type 11 [RCV001119992]\|not provided [RCV005093542]	uncertain significance	15	42830066	42830066	Human	1	name
38485603	CV927312	single nucleotide variant	NM_173500.4(TTBK2):c.541C>T (p.Arg181Ter)	not provided [RCV001219948]	pathogenic\|uncertain significance	15	42817094	42817094	Human		name
41407155	CV982912	single nucleotide variant	NM_173500.4(TTBK2):c.3216G>A (p.Gln1072=)	not provided [RCV001289304]	likely benign	15	42752030	42752030	Human		name
126726221	CV1017913	single nucleotide variant	NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)	Spinocerebellar ataxia type 11 [RCV001331849]\|not provided [RCV004998830]	uncertain significance	15	42752526	42752526	Human	1	name
150334821	CV1166126	single nucleotide variant	NM_173500.4(TTBK2):c.1432A>C (p.Thr478Pro)	not provided [RCV001531199]	uncertain significance	15	42775701	42775701	Human		name
150432344	CV1246260	single nucleotide variant	NM_173500.4(TTBK2):c.1399C>T (p.Leu467Phe)	not provided [RCV001663673]	uncertain significance	15	42777041	42777041	Human		name
150432348	CV1246261	single nucleotide variant	NM_173500.4(TTBK2):c.1437T>A (p.Ser479Arg)	not provided [RCV001663674]	uncertain significance	15	42775696	42775696	Human		name
150432351	CV1246262	single nucleotide variant	NM_173500.4(TTBK2):c.1439C>A (p.Ala480Glu)	not provided [RCV001663675]	uncertain significance	15	42775694	42775694	Human		name
150528747	CV1288476	single nucleotide variant	NM_173500.4(TTBK2):c.1708G>A (p.Val570Ile)	not provided [RCV001726944]	uncertain significance	15	42775425	42775425	Human		name
150555405	CV1297868	single nucleotide variant	NM_173500.4(TTBK2):c.2084T>A (p.Leu695His)	Inborn genetic diseases [RCV002544037]\|not provided [RCV001772776]	uncertain significance	15	42753162	42753162	Human	1	name
151662114	CV1332879	single nucleotide variant	NM_173500.4(TTBK2):c.1019G>A (p.Arg340Gln)	not provided [RCV001837126]	uncertain significance	15	42783597	42783597	Human		name
153301622	CV1685805	single nucleotide variant	NM_173500.4(TTBK2):c.2761T>C (p.Ser921Pro)	not provided [RCV002260782]	uncertain significance	15	42752485	42752485	Human		name
155642898	CV1707543	single nucleotide variant	NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)	Spinocerebellar ataxia type 11 [RCV002289004]	uncertain significance	15	42753139	42753139	Human	1	name
155796593	CV1859109	single nucleotide variant	NM_173500.4(TTBK2):c.1785T>A (p.Asp595Glu)	not provided [RCV002464737]	uncertain significance	15	42775348	42775348	Human		name
155801836	CV1864147	single nucleotide variant	NM_173500.4(TTBK2):c.2356T>G (p.Ser786Ala)	not provided [RCV002475100]	likely pathogenic\|uncertain significance	15	42752890	42752890	Human		name
155801837	CV1864148	single nucleotide variant	NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val)	not provided [RCV002475101]	conflicting interpretations of pathogenicity\|uncertain significance	15	42775160	42775160	Human		name
155801840	CV1864151	single nucleotide variant	NM_173500.4(TTBK2):c.2120C>T (p.Pro707Leu)	not provided [RCV002475104]	uncertain significance	15	42753126	42753126	Human		name
155801841	CV1864152	single nucleotide variant	NM_173500.4(TTBK2):c.1112C>T (p.Ser371Phe)	not provided [RCV002475105]	uncertain significance	15	42783504	42783504	Human		name
156416630	CV1901611	single nucleotide variant	NM_173500.4(TTBK2):c.2216A>G (p.His739Arg)	Inborn genetic diseases [RCV002610278]\|not provided [RCV002610277]\|not specified [RCV005239665]	uncertain significance	15	42753030	42753030	Human	1	name
155928513	CV1912377	single nucleotide variant	NM_173500.4(TTBK2):c.1324A>C (p.Lys442Gln)	not provided [RCV002614878]	uncertain significance	15	42777116	42777116	Human		name
156392808	CV1987770	single nucleotide variant	NM_173500.4(TTBK2):c.2050T>C (p.Phe684Leu)	Inborn genetic diseases [RCV004965988]\|not provided [RCV002635153]	uncertain significance	15	42753196	42753196	Human	1	name
156207547	CV2007924	single nucleotide variant	NM_173500.4(TTBK2):c.2711G>T (p.Gly904Val)	not provided [RCV002700504]	uncertain significance	15	42752535	42752535	Human		name
156013811	CV2013292	single nucleotide variant	NM_173500.4(TTBK2):c.2800G>T (p.Val934Phe)	not provided [RCV002735034]	uncertain significance	15	42752446	42752446	Human		name
156401540	CV2013416	single nucleotide variant	NM_173500.4(TTBK2):c.1782A>C (p.Gln594His)	not provided [RCV002726048]	uncertain significance	15	42775351	42775351	Human		name
155922986	CV2024045	single nucleotide variant	NM_173500.4(TTBK2):c.1157T>C (p.Met386Thr)	Inborn genetic diseases [RCV002750801]\|not provided [RCV002774869]	uncertain significance	15	42783459	42783459	Human	1	name
156013136	CV2038335	single nucleotide variant	NM_173500.4(TTBK2):c.1997C>T (p.Ala666Val)	not provided [RCV002780254]	uncertain significance	15	42775136	42775136	Human		name
156011565	CV2041919	single nucleotide variant	NM_173500.4(TTBK2):c.1957A>G (p.Thr653Ala)	not provided [RCV002780172]	uncertain significance	15	42775176	42775176	Human		name
155942176	CV2114990	single nucleotide variant	NM_173500.4(TTBK2):c.2789G>A (p.Arg930Gln)	Inborn genetic diseases [RCV004966170]\|not provided [RCV002904545]	uncertain significance	15	42752457	42752457	Human	1	name
156017692	CV2155284	single nucleotide variant	NM_173500.4(TTBK2):c.2063A>G (p.Gln688Arg)	not provided [RCV003018074]	uncertain significance	15	42753183	42753183	Human		name
156320667	CV2170349	single nucleotide variant	NM_173500.4(TTBK2):c.2344A>T (p.Ile782Phe)	not provided [RCV003029137]	uncertain significance	15	42752902	42752902	Human		name
156173168	CV2247575	single nucleotide variant	NM_173500.4(TTBK2):c.1629C>G (p.Cys543Trp)	Inborn genetic diseases [RCV002788175]	uncertain significance	15	42775504	42775504	Human	1	name
155972428	CV2271531	single nucleotide variant	NM_173500.4(TTBK2):c.1322G>A (p.Arg441Gln)	Inborn genetic diseases [RCV002817827]	uncertain significance	15	42777118	42777118	Human	1	name
156285776	CV2289101	single nucleotide variant	NM_173500.4(TTBK2):c.2368G>A (p.Asp790Asn)	Inborn genetic diseases [RCV002878491]	uncertain significance	15	42752878	42752878	Human	1	name
156233287	CV2346185	single nucleotide variant	NM_173500.4(TTBK2):c.1192T>C (p.Cys398Arg)	Inborn genetic diseases [RCV002986907]	uncertain significance	15	42783424	42783424	Human	1	name
156173783	CV2355205	single nucleotide variant	NM_173500.4(TTBK2):c.1501A>G (p.Thr501Ala)	Inborn genetic diseases [RCV002983632]	uncertain significance	15	42775632	42775632	Human	1	name
156386696	CV2364820	single nucleotide variant	NM_173500.4(TTBK2):c.1361G>A (p.Arg454His)	Inborn genetic diseases [RCV002679920]	uncertain significance	15	42777079	42777079	Human	1	name
329398763	CV2471698	single nucleotide variant	NM_173500.4(TTBK2):c.1853T>C (p.Leu618Ser)	Inborn genetic diseases [RCV003220618]	uncertain significance	15	42775280	42775280	Human	1	name
401769795	CV2689947	single nucleotide variant	NM_173500.4(TTBK2):c.1867G>A (p.Glu623Lys)	Inborn genetic diseases [RCV003260727]	uncertain significance	15	42775266	42775266	Human	1	name
401758628	CV2694197	single nucleotide variant	NM_173500.4(TTBK2):c.1579G>T (p.Ala527Ser)	Inborn genetic diseases [RCV003279829]	uncertain significance	15	42775554	42775554	Human	1	name
401726102	CV2699088	single nucleotide variant	NM_173500.4(TTBK2):c.2504C>T (p.Pro835Leu)	Inborn genetic diseases [RCV003246217]	uncertain significance	15	42752742	42752742	Human	1	name
401740311	CV2705976	single nucleotide variant	NM_173500.4(TTBK2):c.2609T>C (p.Val870Ala)	Inborn genetic diseases [RCV003292340]	uncertain significance	15	42752637	42752637	Human	1	name
401829239	CV2747321	single nucleotide variant	NM_173500.4(TTBK2):c.2891C>T (p.Ala964Val)	not provided [RCV003328786]	uncertain significance	15	42752355	42752355	Human		name
401870172	CV2749324	single nucleotide variant	NM_173500.4(TTBK2):c.2380A>C (p.Ser794Arg)	Inborn genetic diseases [RCV005288962]\|not provided [RCV003332452]	uncertain significance	15	42752866	42752866	Human	1	name
401881509	CV2759440	single nucleotide variant	NM_173500.4(TTBK2):c.1229A>G (p.Gln410Arg)	Inborn genetic diseases [RCV003350060]	uncertain significance	15	42777211	42777211	Human	1	name
401890115	CV2762234	single nucleotide variant	NM_173500.4(TTBK2):c.1387A>G (p.Thr463Ala)	Inborn genetic diseases [RCV003368773]	uncertain significance	15	42777053	42777053	Human	1	name
401877562	CV2769564	single nucleotide variant	NM_173500.4(TTBK2):c.1162G>A (p.Ala388Thr)	Inborn genetic diseases [RCV003348467]	uncertain significance	15	42783454	42783454	Human	1	name
401874860	CV2781308	single nucleotide variant	NM_173500.4(TTBK2):c.2981A>G (p.Asp994Gly)	Inborn genetic diseases [RCV003362455]	uncertain significance	15	42752265	42752265	Human	1	name
401895151	CV2792820	single nucleotide variant	NM_173500.4(TTBK2):c.2669C>T (p.Pro890Leu)	Inborn genetic diseases [RCV003372218]	uncertain significance	15	42752577	42752577	Human	1	name
401933365	CV2804093	single nucleotide variant	NM_173500.4(TTBK2):c.1127G>A (p.Arg376His)	Inborn genetic diseases [RCV004362867]\|TTBK2-related disorder [RCV003392839]\|not provided [RCV003699091]\|not specified [RCV004999932]	benign\|uncertain significance	15	42783489	42783489	Human	2	name , trait , alternate_id
401916206	CV2817502	single nucleotide variant	NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)	Spinocerebellar ataxia type 11 [RCV003455817]\|not provided [RCV003400922]	benign\|likely benign	15	42753216	42753216	Human	1	name
401948027	CV2832148	single nucleotide variant	NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)	Spinocerebellar ataxia type 11 [RCV003447673]	uncertain significance	15	42752770	42752770	Human	1	name
401962484	CV2845106	single nucleotide variant	NM_173500.4(TTBK2):c.2293C>G (p.Leu765Val)	Inborn genetic diseases [RCV004364856]\|not provided [RCV003482567]	uncertain significance	15	42752953	42752953	Human	1	name
401962485	CV2845107	single nucleotide variant	NM_173500.4(TTBK2):c.2798T>C (p.Met933Thr)	not provided [RCV003482568]	uncertain significance	15	42752448	42752448	Human		name
405236232	CV2887883	single nucleotide variant	NM_173500.4(TTBK2):c.1483G>A (p.Val495Ile)	Inborn genetic diseases [RCV004963700]\|not provided [RCV003556439]	uncertain significance	15	42775650	42775650	Human	1	name
405164253	CV2895599	single nucleotide variant	NM_173500.4(TTBK2):c.1157T>G (p.Met386Arg)	not provided [RCV003562553]	uncertain significance	15	42783459	42783459	Human		name
405123432	CV2942556	single nucleotide variant	NM_173500.4(TTBK2):c.1036G>A (p.Val346Ile)	not provided [RCV003671719]	uncertain significance	15	42783580	42783580	Human		name
405187103	CV2964142	single nucleotide variant	NM_173500.4(TTBK2):c.2729C>T (p.Thr910Ile)	not provided [RCV003676854]	uncertain significance	15	42752517	42752517	Human		name
405241116	CV2970665	single nucleotide variant	NM_173500.4(TTBK2):c.2967G>C (p.Lys989Asn)	not provided [RCV003684065]	uncertain significance	15	42752279	42752279	Human		name
405233745	CV2981882	single nucleotide variant	NM_173500.4(TTBK2):c.2646T>G (p.Asp882Glu)	not provided [RCV003711948]	uncertain significance	15	42752600	42752600	Human		name
402520218	CV3002498	single nucleotide variant	NM_173500.4(TTBK2):c.2710G>T (p.Gly904Cys)	not provided [RCV003690237]	uncertain significance	15	42752536	42752536	Human		name
405142311	CV3026523	single nucleotide variant	NM_173500.4(TTBK2):c.1666G>C (p.Asp556His)	not provided [RCV003702623]	uncertain significance	15	42775467	42775467	Human		name
405068984	CV3031037	single nucleotide variant	NM_173500.4(TTBK2):c.1290T>G (p.Ile430Met)	not provided [RCV003698204]	uncertain significance	15	42777150	42777150	Human		name
402485617	CV3033843	single nucleotide variant	NM_173500.4(TTBK2):c.2774A>G (p.His925Arg)	not provided [RCV003713263]	uncertain significance	15	42752472	42752472	Human		name
405254054	CV3045238	single nucleotide variant	NM_173500.4(TTBK2):c.1499G>A (p.Arg500His)	not provided [RCV003722827]\|not specified [RCV005000008]	likely benign\|uncertain significance	15	42775634	42775634	Human		name
405176690	CV3049465	single nucleotide variant	NM_173500.4(TTBK2):c.1540G>T (p.Asp514Tyr)	not provided [RCV003728403]	uncertain significance	15	42775593	42775593	Human		name
405240935	CV3060975	single nucleotide variant	NM_173500.4(TTBK2):c.2062C>G (p.Gln688Glu)	not provided [RCV003737242]	uncertain significance	15	42753184	42753184	Human		name
405113431	CV3133743	single nucleotide variant	NM_173500.4(TTBK2):c.2993C>T (p.Ala998Val)	not provided [RCV003836537]	uncertain significance	15	42752253	42752253	Human		name
405054308	CV3138502	single nucleotide variant	NM_173500.4(TTBK2):c.1280G>A (p.Arg427His)	not provided [RCV003832346]	uncertain significance	15	42777160	42777160	Human		name
405076130	CV3140774	single nucleotide variant	NM_173500.4(TTBK2):c.2624A>G (p.Lys875Arg)	not provided [RCV003833737]	uncertain significance	15	42752622	42752622	Human		name
405216024	CV3143339	single nucleotide variant	NM_173500.4(TTBK2):c.2060G>A (p.Gly687Asp)	not provided [RCV003846503]	uncertain significance	15	42753186	42753186	Human		name
405246985	CV3158645	single nucleotide variant	NM_173500.4(TTBK2):c.2512G>A (p.Asp838Asn)	not provided [RCV003868987]	uncertain significance	15	42752734	42752734	Human		name
405212110	CV3173563	single nucleotide variant	NM_173500.4(TTBK2):c.1880C>T (p.Thr627Ile)	not provided [RCV003862312]	uncertain significance	15	42775253	42775253	Human		name
11609135	CV322522	single nucleotide variant	NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly)	Spinocerebellar ataxia type 11 [RCV000364165]\|TTBK2-related disorder [RCV004755869]\|not provided [RCV002522787]	benign\|likely benign	15	42752721	42752721	Human	1	name , trait , alternate_id
11609396	CV322526	single nucleotide variant	NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)	Spinocerebellar ataxia type 11 [RCV000367458]	uncertain significance	15	42752955	42752955	Human	1	name
11602026	CV322528	single nucleotide variant	NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro)	Spinocerebellar ataxia type 11 [RCV000287131]\|not provided [RCV000886927]\|not specified [RCV001288855]	benign\|likely benign	15	42775634	42775634	Human	1	name
405799456	CV3337279	single nucleotide variant	NM_173500.4(TTBK2):c.1124C>T (p.Pro375Leu)	Inborn genetic diseases [RCV004476858]	uncertain significance	15	42783492	42783492	Human	1	name
405799460	CV3337280	single nucleotide variant	NM_173500.4(TTBK2):c.1318G>A (p.Val440Met)	Inborn genetic diseases [RCV004476859]	uncertain significance	15	42777122	42777122	Human	1	name
405799464	CV3337281	single nucleotide variant	NM_173500.4(TTBK2):c.1753G>C (p.Val585Leu)	Inborn genetic diseases [RCV004476860]	uncertain significance	15	42775380	42775380	Human	1	name
405799467	CV3337282	single nucleotide variant	NM_173500.4(TTBK2):c.2657G>A (p.Ser886Asn)	Inborn genetic diseases [RCV004476861]	uncertain significance	15	42752589	42752589	Human	1	name
11622854	CV338896	single nucleotide variant	NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val)	Spinocerebellar ataxia type 11 [RCV000365522]\|TTBK2-related disorder [RCV003920325]\|not provided [RCV000971801]\|not specified [RCV001289302]	benign\|likely benign\|uncertain significance	15	42752305	42752305	Human	1	name , trait , alternate_id
11618830	CV338901	single nucleotide variant	NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)	Inborn genetic diseases [RCV004021632]\|Spinocerebellar ataxia type 11 [RCV000318500]\|not provided [RCV000960691]\|not specified [RCV001288858]	benign\|likely benign\|uncertain significance	15	42753036	42753036	Human	2	name
11623659	CV338905	single nucleotide variant	NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu)	Spinocerebellar ataxia type 11 [RCV000375491]\|not provided [RCV000908653]	benign\|likely benign	15	42753075	42753075	Human	1	name
11618761	CV338907	single nucleotide variant	NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)	Spinocerebellar ataxia type 11 [RCV000317500]	uncertain significance	15	42775203	42775203	Human	1	name
11620647	CV338909	single nucleotide variant	NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)	Spinocerebellar ataxia type 11 [RCV000339260]\|not provided [RCV001660651]	uncertain significance	15	42777080	42777080	Human	1	name
11614005	CV340517	single nucleotide variant	NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln)	Spinocerebellar ataxia type 11 [RCV000273300]	likely benign	15	42752415	42752415	Human	1	name
11614273	CV340527	single nucleotide variant	NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)	Inborn genetic diseases [RCV002522788]\|Spinocerebellar ataxia type 11 [RCV000275220]\|not provided [RCV003105867]	likely benign\|uncertain significance	15	42752968	42752968	Human	2	name
11614679	CV340529	single nucleotide variant	NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)	Spinocerebellar ataxia type 11 [RCV000278812]\|TTBK2-related disorder [RCV004755870]\|not provided [RCV000962375]\|not specified [RCV001288857]	benign\|likely benign	15	42753113	42753113	Human	1	name , trait , alternate_id
11623943	CV340532	single nucleotide variant	NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)	Inborn genetic diseases [RCV002522789]\|Spinocerebellar ataxia type 11 [RCV000379173]\|TTBK2-related disorder [RCV003969883]\|not provided [RCV000658708]\|not specified [RCV000518308]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42775578	42775578	Human	2	name , trait , alternate_id
407426542	CV3411386	single nucleotide variant	NM_173500.4(TTBK2):c.2606A>G (p.Gln869Arg)	not provided [RCV004590563]	uncertain significance	15	42752640	42752640	Human		name
407528747	CV3487146	single nucleotide variant	NM_173500.4(TTBK2):c.1607T>A (p.Ile536Lys)	Inborn genetic diseases [RCV004680547]	uncertain significance	15	42775526	42775526	Human	1	name
407573049	CV3498826	single nucleotide variant	NM_173500.4(TTBK2):c.1279C>T (p.Arg427Cys)	not specified [RCV004699795]	uncertain significance	15	42777161	42777161	Human		name
408388459	CV3522667	single nucleotide variant	NM_173500.4(TTBK2):c.1573G>A (p.Glu525Lys)	not provided [RCV004769048]	uncertain significance	15	42775560	42775560	Human		name
596927503	CV3532607	single nucleotide variant	NM_173500.4(TTBK2):c.2477C>T (p.Thr826Ile)	not provided [RCV004778705]	uncertain significance	15	42752769	42752769	Human		name
12742973	CV361600	single nucleotide variant	NM_173500.4(TTBK2):c.1897T>C (p.Tyr633His)	Inborn genetic diseases [RCV004678694]\|not provided [RCV000415827]	uncertain significance	15	42775236	42775236	Human	1	name
597634802	CV3618241	single nucleotide variant	NM_173500.4(TTBK2):c.2195T>C (p.Leu732Pro)	Inborn genetic diseases [RCV004969467]	uncertain significance	15	42753051	42753051	Human	1	name
597634805	CV3618242	single nucleotide variant	NM_173500.4(TTBK2):c.1883C>T (p.Ala628Val)	Inborn genetic diseases [RCV004969468]	uncertain significance	15	42775250	42775250	Human	1	name
597634807	CV3618243	single nucleotide variant	NM_173500.4(TTBK2):c.1615A>G (p.Asn539Asp)	Inborn genetic diseases [RCV004969469]	uncertain significance	15	42775518	42775518	Human	1	name
597634815	CV3618245	single nucleotide variant	NM_173500.4(TTBK2):c.1673A>C (p.Glu558Ala)	Inborn genetic diseases [RCV004969471]	uncertain significance	15	42775460	42775460	Human	1	name
597634918	CV3618249	single nucleotide variant	NM_173500.4(TTBK2):c.2386G>T (p.Gly796Trp)	Inborn genetic diseases [RCV004969475]	uncertain significance	15	42752860	42752860	Human	1	name
597634925	CV3618251	single nucleotide variant	NM_173500.4(TTBK2):c.1339C>T (p.His447Tyr)	Inborn genetic diseases [RCV004969477]	uncertain significance	15	42777101	42777101	Human	1	name
597676198	CV3730821	single nucleotide variant	NM_173500.4(TTBK2):c.2535G>T (p.Lys845Asn)	not provided [RCV004997708]	uncertain significance	15	42752711	42752711	Human		name
597955876	CV3754494	single nucleotide variant	NM_173500.4(TTBK2):c.2864C>A (p.Thr955Asn)	not provided [RCV005080344]	uncertain significance	15	42752382	42752382	Human		name
597881243	CV3810360	single nucleotide variant	NM_173500.4(TTBK2):c.2273A>G (p.Glu758Gly)	not provided [RCV005149821]	uncertain significance	15	42752973	42752973	Human		name
597972375	CV3812940	single nucleotide variant	NM_173500.4(TTBK2):c.1504G>A (p.Asp502Asn)	not provided [RCV005167393]	uncertain significance	15	42775629	42775629	Human		name
597878854	CV3813742	single nucleotide variant	NM_173500.4(TTBK2):c.2206C>T (p.His736Tyr)	not provided [RCV005149484]	uncertain significance	15	42753040	42753040	Human		name
597841692	CV3825567	single nucleotide variant	NM_173500.4(TTBK2):c.2584C>A (p.His862Asn)	not provided [RCV005172250]	uncertain significance	15	42752662	42752662	Human		name
598252815	CV3925072	single nucleotide variant	NM_173500.4(TTBK2):c.2473G>A (p.Val825Met)	Inborn genetic diseases [RCV005298961]	uncertain significance	15	42752773	42752773	Human	1	name
598252821	CV3925074	single nucleotide variant	NM_173500.4(TTBK2):c.2672G>T (p.Gly891Val)	Inborn genetic diseases [RCV005298962]	uncertain significance	15	42752574	42752574	Human	1	name
598188835	CV4008635	single nucleotide variant	NM_173500.4(TTBK2):c.1580C>T (p.Ala527Val)	Spinocerebellar ataxia type 11 [RCV005396134]	uncertain significance	15	42775553	42775553	Human	1	name
598188843	CV4008636	single nucleotide variant	NM_173500.4(TTBK2):c.1591G>C (p.Gly531Arg)	Spinocerebellar ataxia type 11 [RCV005396135]	uncertain significance	15	42775542	42775542	Human	1	name
598188850	CV4008637	single nucleotide variant	NM_173500.4(TTBK2):c.2864C>T (p.Thr955Ile)	Spinocerebellar ataxia type 11 [RCV005396136]	uncertain significance	15	42752382	42752382	Human	1	name
617151079	CV4019273	single nucleotide variant	NM_173500.4(TTBK2):c.1018C>T (p.Arg340Ter)	not provided [RCV005423681]	uncertain significance	15	42783598	42783598	Human		name
13485284	CV441728	single nucleotide variant	NM_173500.4(TTBK2):c.2619G>A (p.Met873Ile)	not specified [RCV000518688]	uncertain significance	15	42752627	42752627	Human		name
13482198	CV441729	single nucleotide variant	NM_173500.4(TTBK2):c.2514C>G (p.Asp838Glu)	Inborn genetic diseases [RCV002527554]\|not specified [RCV000517797]	uncertain significance	15	42752732	42752732	Human	1	name
13485020	CV441730	single nucleotide variant	NM_173500.4(TTBK2):c.2071G>A (p.Glu691Lys)	Inborn genetic diseases [RCV004023529]\|not specified [RCV000518622]	uncertain significance	15	42753175	42753175	Human	1	name
13504224	CV441732	single nucleotide variant	NM_173500.4(TTBK2):c.1822C>G (p.His608Asp)	Inborn genetic diseases [RCV002527553]\|not specified [RCV000516558]	uncertain significance	15	42775311	42775311	Human	1	name
13482014	CV441733	single nucleotide variant	NM_173500.4(TTBK2):c.1552C>G (p.Pro518Ala)	not specified [RCV000517749]	uncertain significance	15	42775581	42775581	Human		name
13478896	CV441734	single nucleotide variant	NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg)	Inborn genetic diseases [RCV004023528]\|not provided [RCV001726211]\|not specified [RCV000516823]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42777032	42777032	Human	1	name
13483664	CV441735	single nucleotide variant	NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys)	Inborn genetic diseases [RCV003159663]\|TTBK2-related disorder [RCV003925550]\|not provided [RCV000903327]\|not specified [RCV000518232]	benign\|likely benign\|uncertain significance	15	42777086	42777086	Human	2	name , trait , alternate_id
13480653	CV441736	single nucleotide variant	NM_173500.4(TTBK2):c.1319T>G (p.Val440Gly)	not provided [RCV000517351]	uncertain significance	15	42777121	42777121	Human		name
13478669	CV441737	single nucleotide variant	NM_173500.4(TTBK2):c.1274G>A (p.Arg425His)	Spinocerebellar ataxia type 11 [RCV005398742]\|not provided [RCV002525100]\|not specified [RCV001644620]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42777166	42777166	Human	1	name
13480201	CV441738	single nucleotide variant	NM_173500.4(TTBK2):c.1060G>A (p.Asp354Asn)	not provided [RCV000517199]	uncertain significance	15	42783556	42783556	Human		name
13477097	CV441739	single nucleotide variant	NM_173500.4(TTBK2):c.1051C>A (p.Gln351Lys)	not specified [RCV000516274]	likely benign\|uncertain significance	15	42783565	42783565	Human		name
13802223	CV577385	single nucleotide variant	NM_173500.4(TTBK2):c.2299G>A (p.Val767Met)	not provided [RCV000713769]\|not specified [RCV004800556]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42752947	42752947	Human		name
13802218	CV577387	single nucleotide variant	NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val)	not provided [RCV000713767]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	42775184	42775184	Human		name
13802216	CV577388	single nucleotide variant	NM_173500.4(TTBK2):c.1126C>T (p.Arg376Cys)	Inborn genetic diseases [RCV003344023]\|not provided [RCV000713766]	uncertain significance	15	42783490	42783490	Human	1	name
13802215	CV577389	single nucleotide variant	NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe)	Inborn genetic diseases [RCV004026831]\|not provided [RCV000713765]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42783601	42783601	Human	1	name
15167503	CV726067	single nucleotide variant	NM_173500.4(TTBK2):c.1697C>A (p.Thr566Lys)	Inborn genetic diseases [RCV004028320]\|not provided [RCV000882860]	likely benign\|uncertain significance	15	42775436	42775436	Human	1	name
15097781	CV726068	single nucleotide variant	NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser)	Inborn genetic diseases [RCV004028407]\|not provided [RCV000891582]\|not specified [RCV001664532]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42783511	42783511	Human	1	name
21068289	CV793528	single nucleotide variant	NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)	Spinocerebellar ataxia type 11 [RCV001119906]\|not provided [RCV000993253]	likely benign	15	42752266	42752266	Human	1	name
21068287	CV793529	single nucleotide variant	NM_173500.4(TTBK2):c.2746C>A (p.Leu916Ile)	Inborn genetic diseases [RCV003346245]\|not provided [RCV000993252]	uncertain significance	15	42752500	42752500	Human	1	name
21068284	CV793530	single nucleotide variant	NM_173500.4(TTBK2):c.1895A>T (p.Gln632Leu)	not provided [RCV000993250]	uncertain significance	15	42775238	42775238	Human		name
21068280	CV793531	single nucleotide variant	NM_173500.4(TTBK2):c.1645T>G (p.Ser549Ala)	Inborn genetic diseases [RCV003259026]\|not provided [RCV000993248]	uncertain significance	15	42775488	42775488	Human	1	name
21068276	CV793533	single nucleotide variant	NM_173500.4(TTBK2):c.1271T>C (p.Ile424Thr)	not provided [RCV000993245]	uncertain significance	15	42777169	42777169	Human		name
21068274	CV793534	single nucleotide variant	NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)	Spinocerebellar ataxia type 11 [RCV001118473]\|not provided [RCV000993244]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	42783516	42783516	Human	1	name
21074610	CV797133	single nucleotide variant	NM_173500.4(TTBK2):c.2060G>T (p.Gly687Val)	not provided [RCV000995311]	uncertain significance	15	42753186	42753186	Human		name
28892383	CV860156	single nucleotide variant	NM_173500.4(TTBK2):c.2450C>G (p.Ser817Ter)	not provided [RCV001092492]	pathogenic	15	42752796	42752796	Human		name
28893924	CV873514	single nucleotide variant	NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)	Inborn genetic diseases [RCV003246704]\|Spinocerebellar ataxia type 11 [RCV001121888]\|not provided [RCV003769183]	uncertain significance	15	42752902	42752902	Human	2	name
28874127	CV873515	single nucleotide variant	NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)	Spinocerebellar ataxia type 11 [RCV001115318]\|not provided [RCV002556262]	likely benign\|uncertain significance	15	42775634	42775634	Human	1	name
28883526	CV873516	single nucleotide variant	NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)	Spinocerebellar ataxia type 11 [RCV001118471]	uncertain significance	15	42777203	42777203	Human	1	name
28883530	CV873517	single nucleotide variant	NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)	Spinocerebellar ataxia type 11 [RCV001118472]\|not provided [RCV003769163]	uncertain significance	15	42783443	42783443	Human	1	name
40815427	CV971016	single nucleotide variant	NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)	Spinocerebellar ataxia type 11 [RCV001262804]	uncertain significance	15	42775635	42775635	Human	1	name
41406730	CV982915	single nucleotide variant	NM_173500.4(TTBK2):c.1936C>G (p.Gln646Glu)	not provided [RCV003727980]\|not specified [RCV001288856]	benign\|likely benign	15	42775197	42775197	Human		name
41406727	CV982916	single nucleotide variant	NM_173500.4(TTBK2):c.1261G>A (p.Gly421Arg)	not provided [RCV001288854]	uncertain significance	15	42777179	42777179	Human		name
41406724	CV982917	single nucleotide variant	NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser)	Inborn genetic diseases [RCV002537981]\|not provided [RCV001288853]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42777193	42777193	Human	1	name
126751530	CV1032000	single nucleotide variant	NM_173500.4(TTBK2):c.3169G>T (p.Val1057Phe)	not provided [RCV001338255]	uncertain significance	15	42752077	42752077	Human		name
150337745	CV1166125	single nucleotide variant	NM_173500.4(TTBK2):c.3077T>C (p.Leu1026Pro)	Inborn genetic diseases [RCV002568215]\|not provided [RCV001532881]	uncertain significance	15	42752169	42752169	Human	1	name
150407431	CV1200039	single nucleotide variant	NM_173500.4(TTBK2):c.3328C>T (p.Arg1110Cys)	not provided [RCV001579779]	uncertain significance	15	42746202	42746202	Human		name
150432360	CV1246265	single nucleotide variant	NM_173500.4(TTBK2):c.3130A>G (p.Ile1044Val)	not provided [RCV001663678]	uncertain significance	15	42752116	42752116	Human		name
150432363	CV1246266	single nucleotide variant	NM_173500.4(TTBK2):c.3431C>T (p.Pro1144Leu)	not provided [RCV001663679]	uncertain significance	15	42746099	42746099	Human		name
150432366	CV1246267	single nucleotide variant	NM_173500.4(TTBK2):c.3443G>A (p.Arg1148His)	not provided [RCV001663680]	uncertain significance	15	42746087	42746087	Human		name
151757849	CV1288111	single nucleotide variant	NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)	Spinocerebellar ataxia type 11 [RCV001849234]	likely pathogenic	15	42746064	42746064	Human	1	name
151350840	CV1324850	single nucleotide variant	NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu)	Spinocerebellar ataxia type 11 [RCV001809295]	uncertain significance	15	42746201	42746201	Human	1	name
152056830	CV1670502	single nucleotide variant	NM_173500.4(TTBK2):c.3445A>G (p.Arg1149Gly)	not provided [RCV002226022]	uncertain significance	15	42746085	42746085	Human		name
156442667	CV1948770	single nucleotide variant	NM_173500.4(TTBK2):c.3010G>A (p.Glu1004Lys)	not provided [RCV003113015]	likely benign	15	42752236	42752236	Human		name
156283383	CV1968067	single nucleotide variant	NM_173500.4(TTBK2):c.3589T>G (p.Ser1197Ala)	Inborn genetic diseases [RCV004681505]\|not provided [RCV002598469]	uncertain significance	15	42745941	42745941	Human	1	name
156239607	CV1992497	single nucleotide variant	NM_173500.4(TTBK2):c.3526C>G (p.His1176Asp)	not provided [RCV002627085]	uncertain significance	15	42746004	42746004	Human		name
156285797	CV2001704	single nucleotide variant	NM_173500.4(TTBK2):c.3310G>A (p.Asp1104Asn)	Inborn genetic diseases [RCV003167586]\|not provided [RCV002647003]	uncertain significance	15	42746220	42746220	Human	1	name
156296403	CV2017080	single nucleotide variant	NM_173500.4(TTBK2):c.3518G>A (p.Arg1173Gln)	Inborn genetic diseases [RCV005288797]\|not provided [RCV002715862]	uncertain significance	15	42746012	42746012	Human	1	name
156028927	CV2022553	single nucleotide variant	NM_173500.4(TTBK2):c.3022G>C (p.Ala1008Pro)	not provided [RCV002735721]	uncertain significance	15	42752224	42752224	Human		name
155956755	CV2040184	single nucleotide variant	NM_173500.4(TTBK2):c.3209C>T (p.Ser1070Leu)	not provided [RCV002776057]	uncertain significance	15	42752037	42752037	Human		name
155931387	CV2129171	single nucleotide variant	NM_173500.4(TTBK2):c.3199A>G (p.Ser1067Gly)	Inborn genetic diseases [RCV004068149]\|not provided [RCV002970646]	uncertain significance	15	42752047	42752047	Human	1	name
156246623	CV2192509	single nucleotide variant	NM_173500.4(TTBK2):c.3344T>C (p.Leu1115Pro)	not provided [RCV003059859]	uncertain significance	15	42746186	42746186	Human		name
155922496	CV2218940	single nucleotide variant	NM_173500.4(TTBK2):c.3365C>G (p.Pro1122Arg)	Inborn genetic diseases [RCV002727641]	uncertain significance	15	42746165	42746165	Human	1	name
329385034	CV2454598	single nucleotide variant	NM_173500.4(TTBK2):c.3203C>T (p.Ser1068Leu)	Inborn genetic diseases [RCV003214289]	uncertain significance	15	42752043	42752043	Human	1	name
329953588	CV2668493	single nucleotide variant	NM_173500.4(TTBK2):c.3583T>C (p.Ser1195Pro)	not provided [RCV003230146]	uncertain significance	15	42745947	42745947	Human		name
401737390	CV2695790	single nucleotide variant	NM_173500.4(TTBK2):c.3364C>T (p.Pro1122Ser)	Inborn genetic diseases [RCV003250268]	uncertain significance	15	42746166	42746166	Human	1	name
401771123	CV2700872	single nucleotide variant	NM_173500.4(TTBK2):c.3545C>A (p.Ser1182Tyr)	Inborn genetic diseases [RCV003261348]	uncertain significance	15	42745985	42745985	Human	1	name
401873182	CV2749726	single nucleotide variant	NM_173500.4(TTBK2):c.3338A>G (p.Gln1113Arg)	not provided [RCV003332855]	uncertain significance	15	42746192	42746192	Human		name
405169434	CV2854175	single nucleotide variant	NM_173500.4(TTBK2):c.3706A>G (p.Ser1236Gly)	not provided [RCV003542046]	uncertain significance	15	42745824	42745824	Human		name
405246936	CV2966505	single nucleotide variant	NM_173500.4(TTBK2):c.3298A>C (p.Ser1100Arg)	not provided [RCV003685544]	uncertain significance	15	42746232	42746232	Human		name
405234865	CV2972467	single nucleotide variant	NM_173500.4(TTBK2):c.3581A>C (p.His1194Pro)	not provided [RCV003682867]	uncertain significance	15	42745949	42745949	Human		name
405059763	CV3019954	single nucleotide variant	NM_173500.4(TTBK2):c.3022G>A (p.Ala1008Thr)	not provided [RCV003697595]	uncertain significance	15	42752224	42752224	Human		name
405225895	CV3068477	single nucleotide variant	NM_173500.4(TTBK2):c.3290T>C (p.Val1097Ala)	not provided [RCV003734038]	likely benign	15	42746240	42746240	Human		name
405244119	CV3080224	single nucleotide variant	NM_173500.4(TTBK2):c.3098G>C (p.Ser1033Thr)	not provided [RCV003737949]	uncertain significance	15	42752148	42752148	Human		name
405188355	CV3121294	single nucleotide variant	NM_173500.4(TTBK2):c.3541T>G (p.Ser1181Ala)	Inborn genetic diseases [RCV004968486]\|not provided [RCV003820750]	uncertain significance	15	42745989	42745989	Human	1	name
405142948	CV3126035	single nucleotide variant	NM_173500.4(TTBK2):c.3485G>A (p.Arg1162His)	not provided [RCV003816951]	uncertain significance	15	42746045	42746045	Human		name
404984299	CV3183630	single nucleotide variant	NM_173500.4(TTBK2):c.3161C>T (p.Pro1054Leu)	not provided [RCV003880907]	uncertain significance	15	42752085	42752085	Human		name
11611592	CV322514	single nucleotide variant	NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)	Spinocerebellar ataxia type 11 [RCV000397090]\|not provided [RCV002472989]	uncertain significance	15	42746103	42746103	Human	1	name
11603838	CV322515	single nucleotide variant	NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)	Inborn genetic diseases [RCV002522786]\|Spinocerebellar ataxia type 11 [RCV000303717]\|not provided [RCV000903326]\|not specified [RCV001289303]	benign\|likely benign\|uncertain significance	15	42752061	42752061	Human	2	name
11620837	CV331896	single nucleotide variant	NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)	Inborn genetic diseases [RCV002522352]\|Spinocerebellar ataxia type 11 [RCV000341289]\|TTBK2-related disorder [RCV003957636]\|not provided [RCV000925780]\|not specified [RCV001289306]	benign\|likely benign\|uncertain significance	15	42746199	42746199	Human	2	name , trait , alternate_id
405799473	CV3337284	single nucleotide variant	NM_173500.4(TTBK2):c.3368G>A (p.Arg1123Gln)	Inborn genetic diseases [RCV004476863]	uncertain significance	15	42746162	42746162	Human	1	name
11616783	CV338892	single nucleotide variant	NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)	Inborn genetic diseases [RCV002520956]\|Spinocerebellar ataxia type 11 [RCV000298038]\|not provided [RCV001289307]\|not specified [RCV004999308]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	42746112	42746112	Human	2	name
11625423	CV338895	single nucleotide variant	NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met)	Spinocerebellar ataxia type 11 [RCV000398765]\|not provided [RCV001718648]\|not specified [RCV001289305]	benign\|likely benign	15	42751995	42751995	Human	1	name
407528749	CV3487147	single nucleotide variant	NM_173500.4(TTBK2):c.3373A>G (p.Thr1125Ala)	Inborn genetic diseases [RCV004680548]	uncertain significance	15	42746157	42746157	Human	1	name
408386515	CV3522559	single nucleotide variant	NM_173500.4(TTBK2):c.3697C>G (p.Gln1233Glu)	not provided [RCV004767919]	uncertain significance	15	42745833	42745833	Human		name
596927416	CV3541077	single nucleotide variant	NM_173500.4(TTBK2):c.3425A>G (p.Lys1142Arg)	Spinocerebellar ataxia type 11 [RCV004796947]	uncertain significance	15	42746105	42746105	Human	1	name
597634794	CV3618239	single nucleotide variant	NM_173500.4(TTBK2):c.3704A>G (p.Lys1235Arg)	Inborn genetic diseases [RCV004969465]	uncertain significance	15	42745826	42745826	Human	1	name
597634811	CV3618244	single nucleotide variant	NM_173500.4(TTBK2):c.3575C>G (p.Pro1192Arg)	Inborn genetic diseases [RCV004969470]	uncertain significance	15	42745955	42745955	Human	1	name
597634909	CV3618247	single nucleotide variant	NM_173500.4(TTBK2):c.3727A>G (p.Ser1243Gly)	Inborn genetic diseases [RCV004969473]	uncertain significance	15	42745803	42745803	Human	1	name
597634922	CV3618250	single nucleotide variant	NM_173500.4(TTBK2):c.3481C>T (p.Pro1161Ser)	Inborn genetic diseases [RCV004969476]	uncertain significance	15	42746049	42746049	Human	1	name
597652026	CV3730606	single nucleotide variant	NM_173500.4(TTBK2):c.3220T>C (p.Phe1074Leu)	not provided [RCV005000896]	uncertain significance	15	42752026	42752026	Human		name
597718779	CV3733448	single nucleotide variant	NM_173500.4(TTBK2):c.3607T>A (p.Ser1203Thr)	not provided [RCV005052638]	uncertain significance	15	42745923	42745923	Human		name
597720378	CV3733584	single nucleotide variant	NM_173500.4(TTBK2):c.3621G>T (p.Glu1207Asp)	not provided [RCV005052775]	uncertain significance	15	42745909	42745909	Human		name
597831229	CV3739950	single nucleotide variant	NM_173500.4(TTBK2):c.3695C>T (p.Pro1232Leu)	not provided [RCV005062648]	uncertain significance	15	42745835	42745835	Human		name
597858732	CV3748300	single nucleotide variant	NM_173500.4(TTBK2):c.3401C>T (p.Pro1134Leu)	not provided [RCV005067122]	uncertain significance	15	42746129	42746129	Human		name
597924121	CV3748454	single nucleotide variant	NM_173500.4(TTBK2):c.3631C>T (p.Pro1211Ser)	not provided [RCV005075101]	uncertain significance	15	42745899	42745899	Human		name
597911939	CV3778331	single nucleotide variant	NM_173500.4(TTBK2):c.3505T>C (p.Ser1169Pro)	not provided [RCV005128870]	uncertain significance	15	42746025	42746025	Human		name
597890219	CV3804940	single nucleotide variant	NM_173500.4(TTBK2):c.3002A>T (p.Lys1001Ile)	not provided [RCV005151202]	uncertain significance	15	42752244	42752244	Human		name
597903033	CV3845905	single nucleotide variant	NM_173500.4(TTBK2):c.3227G>A (p.Arg1076Gln)	not provided [RCV005181527]	uncertain significance	15	42752019	42752019	Human		name
598229958	CV3925073	single nucleotide variant	NM_173500.4(TTBK2):c.3150G>C (p.Lys1050Asn)	Inborn genetic diseases [RCV005294972]	uncertain significance	15	42752096	42752096	Human	1	name
12905978	CV413400	single nucleotide variant	NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)	Spinocerebellar ataxia type 11 [RCV000765208]\|not provided [RCV000488259]	conflicting interpretations of pathogenicity\|uncertain significance	15	42745808	42745808	Human	1	name
13479817	CV441725	single nucleotide variant	NM_173500.4(TTBK2):c.3620A>G (p.Glu1207Gly)	not specified [RCV000517102]	uncertain significance	15	42745910	42745910	Human		name
13477699	CV441726	single nucleotide variant	NM_173500.4(TTBK2):c.3367C>T (p.Arg1123Trp)	not specified [RCV000516441]	uncertain significance	15	42746163	42746163	Human		name
21068291	CV793527	single nucleotide variant	NM_173500.4(TTBK2):c.3035C>T (p.Ala1012Val)	Inborn genetic diseases [RCV004678886]\|not provided [RCV000993254]	uncertain significance	15	42752211	42752211	Human	1	name
21074612	CV797131	single nucleotide variant	NM_173500.4(TTBK2):c.3497C>T (p.Ser1166Phe)	not provided [RCV000995309]	uncertain significance	15	42746033	42746033	Human		name
8627638	CV82782	single nucleotide variant	NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)	Spinocerebellar ataxia type 11 [RCV001119904]\|TTBK2-related disorder [RCV003905032]\|not provided [RCV002054917]\|not specified [RCV000516940]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	15	42746201	42746201	Human	1	name , trait , alternate_id
28883193	CV873508	single nucleotide variant	NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)	Spinocerebellar ataxia type 11 [RCV001118366]	uncertain significance	15	42745991	42745991	Human	1	name
28883196	CV873509	single nucleotide variant	NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp)	Spinocerebellar ataxia type 11 [RCV001118367]	benign\|likely benign	15	42746013	42746013	Human	1	name
28883199	CV873510	single nucleotide variant	NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)	Inborn genetic diseases [RCV003259102]\|Spinocerebellar ataxia type 11 [RCV001118368]\|not provided [RCV002473200]	uncertain significance	15	42746046	42746046	Human	2	name
156035891	CV2178523	microsatellite	NM_173500.4(TTBK2):c.2649CAT[1] (p.Ile884del)	not provided [RCV003036375]	uncertain significance	15	42752592	42752594	Human		name
8595178	CV15887	microsatellite	NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)	Spinocerebellar ataxia type 11 [RCV000000896]	pathogenic	15	42777152	42777153	Human		name
402511470	CV2991153	microsatellite	NM_173500.4(TTBK2):c.2721_2722del (p.Lys908fs)	not provided [RCV003689592]	uncertain significance	15	42752524	42752525	Human		name
8604599	CV49799	microsatellite	NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)	Spinocerebellar ataxia type 11 [RCV000034277]	pathogenic	15	42777133	42777134	Human		name
401934433	CV2817500	duplication	NM_173500.4(TTBK2):c.3312_3319dup (p.Leu1107fs)	not provided [RCV003411178]	uncertain significance	15	42746210	42746211	Human		name
14695941	CV622427	deletion	NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)	Spinocerebellar ataxia type 11 [RCV000785173]	uncertain significance	15	42745929	42745946	Human	1	name
408386916	CV3524292	indel	NM_173500.4(TTBK2):c.2398_2409delinsTTT (p.Ile800_Ser803delinsPhe)	not provided [RCV004768166]	uncertain significance	15	42752837	42752848	Human		name
401796691	CV2739671	indel	NM_173500.4(TTBK2):c.1999-2_1999-1delinsTAGACCTTCTGTGGCATCTACACAGTC	not provided [RCV003319632]	uncertain significance	15	42753248	42753249	Human		name

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