Trip12 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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509 records found for search term Trip12

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150331232	CV1170915	single nucleotide variant	NM_001348323.3(TRIP12):c.*2C>T	TRIP12-related disorder [RCV003980665]\|not provided [RCV001538546]	benign	2	229767552	229767552	Human	1	name , trait , alternate_id
598122242	CV3884287	single nucleotide variant	NM_001348323.3(TRIP12):c.224+8T>A	not specified [RCV005236977]	uncertain significance	2	229860398	229860398	Human		name
127238653	CV1059245	single nucleotide variant	NM_001348323.3(TRIP12):c.3968+1G>T	not provided [RCV001383075]	pathogenic	2	229795178	229795178	Human		name
150335101	CV1165606	single nucleotide variant	NM_001348323.3(TRIP12):c.4695+1G>A	not provided [RCV001531350]	pathogenic	2	229789610	229789610	Human		name
150491511	CV1251201	duplication	NM_001348323.3(TRIP12):c.1133+9dup	not provided [RCV001674869]	benign	2	229840800	229840801	Human		name
150458088	CV1269582	single nucleotide variant	NM_001348323.3(TRIP12):c.98+128G>A	not provided [RCV001693122]	benign	2	229879854	229879854	Human		name
150543816	CV1295734	single nucleotide variant	NM_001348323.3(TRIP12):c.1987-5A>G	not provided [RCV001770964]	uncertain significance	2	229811209	229811209	Human		name
150539190	CV1305063	single nucleotide variant	NM_001348323.3(TRIP12):c.3482+6G>C	not provided [RCV001765843]	uncertain significance	2	229798869	229798869	Human		name
153347893	CV1694942	single nucleotide variant	NM_001348323.3(TRIP12):c.5809-7C>A	not provided [RCV002278872]	uncertain significance	2	229769332	229769332	Human		name
155265044	CV1695446	single nucleotide variant	NM_001348323.3(TRIP12):c.3816+2T>A	Clark-Baraitser syndrome [RCV002280009]	pathogenic	2	229796589	229796589	Human	1	name
155643550	CV1707922	single nucleotide variant	NM_001348323.3(TRIP12):c.4216-2A>G	Clark-Baraitser syndrome [RCV002289383]	pathogenic	2	229792067	229792067	Human	1	name
155795412	CV1861283	single nucleotide variant	NM_001348323.3(TRIP12):c.1354+3A>C	not provided [RCV002469565]	uncertain significance	2	229830753	229830753	Human		name
156165431	CV2270343	single nucleotide variant	NM_001348323.3(TRIP12):c.4215+4A>G	Inborn genetic diseases [RCV002827650]\|not specified [RCV003404164]	uncertain significance	2	229792149	229792149	Human	1	name
243064213	CV2411260	single nucleotide variant	NM_001348323.3(TRIP12):c.3207-7T>C	Clark-Baraitser syndrome [RCV003142832]	uncertain significance	2	229799390	229799390	Human	1	name
329955271	CV2671215	single nucleotide variant	NM_001348323.3(TRIP12):c.6008-6A>G	not specified [RCV003236490]	uncertain significance	2	229767756	229767756	Human		name
401867788	CV2749093	single nucleotide variant	NM_001348323.3(TRIP12):c.1986+7T>C	not specified [RCV003331919]	uncertain significance	2	229813863	229813863	Human		name
401914843	CV2830859	single nucleotide variant	NM_001348323.3(TRIP12):c.3969-9T>G	not provided [RCV003442598]	uncertain significance	2	229793154	229793154	Human		name
401944620	CV2840384	deletion	NM_001348323.3(TRIP12):c.1987-4del	TRIP12-related disorder [RCV003946636]\|not provided [RCV003457322]	likely benign	2	229811208	229811208	Human	1	name , trait , alternate_id
405281007	CV3190728	single nucleotide variant	NM_001348323.3(TRIP12):c.1635+7A>G	TRIP12-related disorder [RCV003907163]	likely benign	2	229815266	229815266	Human		name , trait , alternate_id
405259879	CV3195290	single nucleotide variant	NM_001348323.3(TRIP12):c.1986+6A>T	TRIP12-related disorder [RCV003894484]	likely benign	2	229813864	229813864	Human		name , trait , alternate_id
405283844	CV3200386	single nucleotide variant	NM_001348323.3(TRIP12):c.5904-3T>C	TRIP12-related disorder [RCV003979425]\|not provided [RCV005242542]	benign\|likely benign	2	229768722	229768722	Human	1	name , trait , alternate_id
405727114	CV3235238	single nucleotide variant	NM_001348323.3(TRIP12):c.3624+1G>A	Neurodevelopmental disorder [RCV004018269]	likely pathogenic	2	229797689	229797689	Human	1	name
405797871	CV3347402	single nucleotide variant	NM_001348323.3(TRIP12):c.1028-4A>C	Inborn genetic diseases [RCV004476327]	likely benign	2	229840931	229840931	Human	1	name
407455823	CV3415756	duplication	NM_001348323.3(TRIP12):c.5809-4dup	not provided [RCV004598632]	likely benign	2	229769328	229769329	Human		name
408377179	CV3501539	single nucleotide variant	NM_001348323.3(TRIP12):c.3307+2T>C	not provided [RCV004727597]	pathogenic	2	229799281	229799281	Human		name
408380303	CV3514202	single nucleotide variant	NM_001348323.3(TRIP12):c.4215+9C>A	TRIP12-related disorder [RCV004754106]	likely benign	2	229792144	229792144	Human		name , trait , alternate_id
596921736	CV3535362	single nucleotide variant	NM_001348323.3(TRIP12):c.225-11T>C	Clark-Baraitser syndrome [RCV004784917]	uncertain significance	2	229859585	229859585	Human	1	name
597636931	CV3716831	duplication	NM_001348323.3(TRIP12):c.1987-4dup	Clark-Baraitser syndrome [RCV005024334]	uncertain significance	2	229811207	229811208	Human	1	name
598124692	CV3885336	single nucleotide variant	NM_001348323.3(TRIP12):c.2340-8G>A	not specified [RCV005239913]	uncertain significance	2	229807872	229807872	Human		name
12894232	CV405653	single nucleotide variant	NM_001348323.3(TRIP12):c.4995+2T>C	not provided [RCV000482024]	pathogenic	2	229787503	229787503	Human		name
13463046	CV439484	single nucleotide variant	NM_001348323.3(TRIP12):c.3482+1G>A	Clark-Baraitser syndrome [RCV000515148]	pathogenic	2	229798874	229798874	Human	1	name
13463070	CV439488	single nucleotide variant	NM_001348323.3(TRIP12):c.3968+1G>A	Clark-Baraitser syndrome [RCV000515138]	pathogenic	2	229795178	229795178	Human	1	name
13509204	CV481646	single nucleotide variant	NM_001348323.3(TRIP12):c.1599+2T>C	not provided [RCV000579118]	pathogenic	2	229818362	229818362	Human		name
14397160	CV612601	single nucleotide variant	NM_001348323.3(TRIP12):c.1986+1G>A	not provided [RCV000762325]	uncertain significance	2	229813869	229813869	Human		name
15194121	CV774727	single nucleotide variant	NM_001348323.3(TRIP12):c.1133+8G>T	not provided [RCV000933553]	likely benign	2	229840814	229840814	Human		name
15195906	CV777192	single nucleotide variant	NM_001348323.3(TRIP12):c.5695-4G>T	TRIP12-related disorder [RCV003903286]\|not provided [RCV000956052]	benign	2	229771636	229771636	Human	1	name , trait , alternate_id
15156392	CV777194	single nucleotide variant	NM_001348323.3(TRIP12):c.1731+7C>T	not provided [RCV000946689]	benign	2	229815092	229815092	Human		name
21068060	CV795188	single nucleotide variant	NM_001348323.3(TRIP12):c.4695+5G>A	not provided [RCV000997695]	likely pathogenic	2	229789606	229789606	Human		name
40887997	CV973283	single nucleotide variant	NM_001348323.3(TRIP12):c.4415+5G>A	Inborn genetic diseases [RCV001267520]	pathogenic\|uncertain significance	2	229791861	229791861	Human	1	name
126729329	CV985806	single nucleotide variant	NM_001348323.3(TRIP12):c.4838+2T>G	Clark-Baraitser syndrome [RCV001293770]	likely pathogenic	2	229788796	229788796	Human	1	name
150516083	CV1216434	single nucleotide variant	NM_001348323.3(TRIP12):c.3482+15G>A	Clark-Baraitser syndrome [RCV001838692]\|not provided [RCV001608625]	benign	2	229798860	229798860	Human	4	name
150514161	CV1228084	deletion	NM_001348323.3(TRIP12):c.1133+21del	Clark-Baraitser syndrome [RCV001838715]\|not provided [RCV001638362]	benign	2	229840801	229840801	Human	1	name
150460271	CV1236224	single nucleotide variant	NM_001348323.3(TRIP12):c.2651-39A>C	Clark-Baraitser syndrome [RCV001838729]\|not provided [RCV001649195]	benign	2	229804266	229804266	Human	1	name
150478399	CV1257140	single nucleotide variant	NM_001348323.3(TRIP12):c.3206+70T>C	not provided [RCV001672370]	benign	2	229802182	229802182	Human		name
150483069	CV1261723	single nucleotide variant	NM_001348323.3(TRIP12):c.4696-87A>G	not provided [RCV001686327]	benign	2	229789027	229789027	Human		name
150446431	CV1278314	single nucleotide variant	NM_001348323.3(TRIP12):c.3207-87T>G	not provided [RCV001707457]	benign	2	229799470	229799470	Human		name
150457428	CV1278624	single nucleotide variant	NM_001348323.3(TRIP12):c.2651-25C>T	Clark-Baraitser syndrome [RCV001838820]\|not provided [RCV001709239]	benign	2	229804252	229804252	Human	1	name
150482457	CV1279987	deletion	NM_001348323.3(TRIP12):c.4696-14del	not provided [RCV001715026]	benign	2	229788954	229788954	Human		name
150511852	CV1284799	duplication	NM_001348323.3(TRIP12):c.4696-25dup	not provided [RCV001721668]	benign	2	229788953	229788954	Human		name
155730788	CV1780892	single nucleotide variant	NM_001348323.3(TRIP12):c.5365-14A>C	not specified [RCV002308682]	uncertain significance	2	229777493	229777493	Human		name
405869382	CV2831969	single nucleotide variant	NM_001348323.3(TRIP12):c.1270+31G>A	not provided [RCV004572983]	uncertain significance	2	229836817	229836817	Human		name
405275739	CV3196466	single nucleotide variant	NM_001348323.3(TRIP12):c.5209+10A>G	TRIP12-related disorder [RCV003974293]	likely benign	2	229778866	229778866	Human		name , trait , alternate_id
405283877	CV3200402	single nucleotide variant	NM_001348323.3(TRIP12):c.1270+20C>A	TRIP12-related disorder [RCV003979440]	likely benign	2	229836828	229836828	Human		name , trait , alternate_id
150447217	CV1216083	deletion	NM_001348323.3(TRIP12):c.4839-168del	not provided [RCV001611381]	benign	2	229787829	229787829	Human		name
150437149	CV1220675	deletion	NM_001348323.3(TRIP12):c.4543+226del	not provided [RCV001609660]	benign	2	229790898	229790898	Human		name
150500059	CV1224713	single nucleotide variant	NM_001348323.3(TRIP12):c.5529+161G>A	not provided [RCV001620545]	benign	2	229777154	229777154	Human		name
150434278	CV1230749	single nucleotide variant	NM_001348323.3(TRIP12):c.4141+193C>A	not provided [RCV001643695]	benign	2	229792780	229792780	Human		name
150434638	CV1231141	single nucleotide variant	NM_001348323.3(TRIP12):c.3625-105T>C	not provided [RCV001643785]	benign	2	229796887	229796887	Human		name
150499059	CV1235669	single nucleotide variant	NM_001348323.3(TRIP12):c.4544-204A>G	not provided [RCV001656352]	benign	2	229789966	229789966	Human		name
150502811	CV1241653	single nucleotide variant	NM_001348323.3(TRIP12):c.1987-146T>G	not provided [RCV001657244]	benign	2	229811350	229811350	Human		name
150440106	CV1247812	single nucleotide variant	NM_001348323.3(TRIP12):c.1600-184G>T	not provided [RCV001666179]	benign	2	229815492	229815492	Human		name
150447212	CV1261494	single nucleotide variant	NM_001348323.3(TRIP12):c.3482+148T>G	not provided [RCV001680168]	benign	2	229798727	229798727	Human		name
150454183	CV1265961	deletion	NM_001348323.3(TRIP12):c.1600-212del	not provided [RCV001692538]	benign	2	229815520	229815520	Human		name
150468652	CV1267965	single nucleotide variant	NM_001348323.3(TRIP12):c.2222-212C>T	not provided [RCV001694828]	benign	2	229808581	229808581	Human		name
150454998	CV1277108	single nucleotide variant	NM_001348323.3(TRIP12):c.4543+107G>A	not provided [RCV001708900]	benign	2	229791017	229791017	Human		name
150444187	CV1277960	single nucleotide variant	NM_001348323.3(TRIP12):c.5809-146A>T	not provided [RCV001707103]	benign	2	229769471	229769471	Human		name
151663629	CV1334095	single nucleotide variant	NM_001348323.3(TRIP12):c.3206+408T>G	Clark-Baraitser syndrome [RCV001839269]	uncertain significance	2	229801844	229801844	Human	1	name
150455501	CV1259876	microsatellite	NM_001348323.3(TRIP12):c.3625-181GT[8]	not provided [RCV001681355]	benign	2	229796946	229796947	Human		name
150544818	CV1305505	duplication	NM_001348323.3(TRIP12):c.2651-4_2651-2dup	not provided [RCV001774494]	uncertain significance	2	229804228	229804229	Human		name
407429313	CV3413700	single nucleotide variant	NM_001348323.3(TRIP12):c.8A>C (p.Asn3Thr)	Clark-Baraitser syndrome [RCV004595109]	uncertain significance	2	229880072	229880072	Human	1	name
156052099	CV2192465	single nucleotide variant	NM_001348323.3(TRIP12):c.21C>A (p.Asn7Lys)	not provided [RCV003036945]	uncertain significance	2	229880059	229880059	Human		name
401798768	CV2739473	single nucleotide variant	NM_001348323.3(TRIP12):c.16A>G (p.Asn6Asp)	not provided [RCV003319121]	uncertain significance	2	229880064	229880064	Human		name
401930313	CV2819019	deletion	NM_001348323.3(TRIP12):c.1133+8_1133+11del	not provided [RCV003440220]	likely benign	2	229840811	229840814	Human		name
405673690	CV3380111	deletion	NM_001348323.3(TRIP12):c.4996-12_4996-2del	Clark-Baraitser syndrome [RCV004515778]	likely pathogenic	2	229785857	229785867	Human	1	name
150499361	CV1254346	single nucleotide variant	NM_001348323.3(TRIP12):c.738C>G (p.Ser246=)	not provided [RCV001676520]	benign	2	229859061	229859061	Human		name
150550588	CV1302122	single nucleotide variant	NM_001348323.3(TRIP12):c.98G>A (p.Arg33Lys)	not provided [RCV001765802]	uncertain significance	2	229879982	229879982	Human		name
151663712	CV1334178	single nucleotide variant	NM_001348323.3(TRIP12):c.78A>C (p.Gln26His)	Clark-Baraitser syndrome [RCV001839352]	uncertain significance	2	229880002	229880002	Human	1	name
155944088	CV1935507	single nucleotide variant	NM_001348323.3(TRIP12):c.43C>T (p.Arg15Cys)	not provided [RCV002511254]	uncertain significance	2	229880037	229880037	Human		name
156380076	CV2218042	single nucleotide variant	NM_001348323.3(TRIP12):c.97A>G (p.Arg33Gly)	Inborn genetic diseases [RCV002678529]\|not provided [RCV003234230]	uncertain significance	2	229879983	229879983	Human	1	name
156241682	CV2283119	single nucleotide variant	NM_001348323.3(TRIP12):c.88A>G (p.Ile30Val)	Inborn genetic diseases [RCV002854278]\|not provided [RCV003435911]	likely benign	2	229879992	229879992	Human	1	name
401930312	CV2819021	single nucleotide variant	NM_001348323.3(TRIP12):c.645G>A (p.Ala215=)	not provided [RCV003440221]	likely benign	2	229859154	229859154	Human		name
405286938	CV3193080	single nucleotide variant	NM_001348323.3(TRIP12):c.837G>A (p.Ala279=)	TRIP12-related disorder [RCV003981738]	likely benign	2	229858962	229858962	Human		name , trait , alternate_id
405265589	CV3215569	single nucleotide variant	NM_001348323.3(TRIP12):c.957G>A (p.Leu319=)	TRIP12-related disorder [RCV003946758]	likely benign	2	229858842	229858842	Human		name , trait , alternate_id
407457202	CV3416077	single nucleotide variant	NM_001348323.3(TRIP12):c.81C>G (p.Asp27Glu)	not provided [RCV004598954]	uncertain significance	2	229879999	229879999	Human		name
597848916	CV3762267	single nucleotide variant	NM_001348323.3(TRIP12):c.360A>G (p.Pro120=)	not specified [RCV005087687]	likely benign	2	229859439	229859439	Human		name
150508666	CV1284339	single nucleotide variant	NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=)	Clark-Baraitser syndrome [RCV001838821]\|not provided [RCV001720447]	benign	2	229804142	229804142	Human	1	name
150545638	CV1315813	single nucleotide variant	NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu)	Clark-Baraitser syndrome [RCV001784144]	uncertain significance	2	229860493	229860493	Human	1	name
152102275	CV1667227	single nucleotide variant	NM_001348323.3(TRIP12):c.1476A>G (p.Gln492=)	TRIP12-related disorder [RCV004753540]\|not provided [RCV002214213]	benign	2	229818487	229818487	Human	1	name , trait , alternate_id
152154783	CV1667977	single nucleotide variant	NM_001348323.3(TRIP12):c.1320T>C (p.Ser440=)	not provided [RCV002221871]	uncertain significance	2	229830790	229830790	Human		name
155641800	CV1709944	single nucleotide variant	NM_001348323.3(TRIP12):c.2124A>G (p.Pro708=)	not provided [RCV002293044]	benign\|likely benign	2	229810977	229810977	Human		name
155797307	CV1860329	single nucleotide variant	NM_001348323.3(TRIP12):c.136C>G (p.Pro46Ala)	not provided [RCV002466971]	uncertain significance	2	229860494	229860494	Human		name
156215157	CV2385970	single nucleotide variant	NM_001348323.3(TRIP12):c.262C>G (p.Pro88Ala)	Inborn genetic diseases [RCV002744348]	likely benign	2	229859537	229859537	Human	1	name
401829637	CV2743899	single nucleotide variant	NM_001348323.3(TRIP12):c.2586T>C (p.Asn862=)	not provided [RCV003327076]	likely benign	2	229805794	229805794	Human		name
401930314	CV2819018	single nucleotide variant	NM_001348323.3(TRIP12):c.1479A>T (p.Gly493=)	not provided [RCV003440219]	benign	2	229818484	229818484	Human		name
405264235	CV3185245	single nucleotide variant	NM_001348323.3(TRIP12):c.2892C>T (p.Ser964=)	not provided [RCV003885809]	likely benign	2	229803677	229803677	Human		name
405282951	CV3191234	single nucleotide variant	NM_001348323.3(TRIP12):c.1605G>A (p.Thr535=)	TRIP12-related disorder [RCV003921640]	likely benign	2	229815303	229815303	Human		name , trait , alternate_id
405266201	CV3211769	single nucleotide variant	NM_001348323.3(TRIP12):c.1113G>A (p.Thr371=)	TRIP12-related disorder [RCV003947062]	likely benign	2	229840842	229840842	Human		name , trait , alternate_id
405695874	CV3226687	single nucleotide variant	NM_001348323.3(TRIP12):c.1041T>C (p.Ser347=)	not provided [RCV003993080]	likely benign	2	229840914	229840914	Human		name
405797843	CV3347393	single nucleotide variant	NM_001348323.3(TRIP12):c.289T>G (p.Ser97Ala)	Inborn genetic diseases [RCV004476318]	uncertain significance	2	229859510	229859510	Human	1	name
407425417	CV3409497	single nucleotide variant	NM_001348323.3(TRIP12):c.2709G>A (p.Pro903=)	not provided [RCV004585429]	likely benign	2	229804169	229804169	Human		name
408379283	CV3501012	single nucleotide variant	NM_001348323.3(TRIP12):c.1404T>C (p.Gly468=)	not provided [RCV004722662]	likely benign	2	229829239	229829239	Human		name
408386735	CV3518516	single nucleotide variant	NM_001348323.3(TRIP12):c.247G>C (p.Val83Leu)	not provided [RCV004760834]\|not specified [RCV004801475]	uncertain significance	2	229859552	229859552	Human		name
598129734	CV3887154	single nucleotide variant	NM_001348323.3(TRIP12):c.1503A>G (p.Gln501=)	not provided [RCV005245214]	likely benign	2	229818460	229818460	Human		name
617151072	CV4021887	single nucleotide variant	NM_001348323.3(TRIP12):c.1854A>C (p.Leu618=)	not provided [RCV005426848]	likely benign	2	229814002	229814002	Human		name
13532308	CV511404	deletion	NM_001348323.3(TRIP12):c.486del (p.Gln162fs)	Inborn genetic diseases [RCV000624076]	pathogenic	2	229859313	229859313	Human	1	name
15113740	CV719689	single nucleotide variant	NM_001348323.3(TRIP12):c.2121T>C (p.Thr707=)	not provided [RCV000894722]	benign	2	229810980	229810980	Human		name
8625314	CV80433	single nucleotide variant	NM_004238.2(TRIP12):c.3434G>A (p.Arg1145His)	Malignant melanoma [RCV000060510]	not provided	2	229796748	229796748	Human		name
40886941	CV973286	single nucleotide variant	NM_001348323.3(TRIP12):c.242C>A (p.Ser81Tyr)	Inborn genetic diseases [RCV001266269]	uncertain significance	2	229859557	229859557	Human	1	name
126729035	CV985671	duplication	NM_001348323.3(TRIP12):c.399dup (p.Pro134fs)	Clark-Baraitser syndrome [RCV001293635]	pathogenic\|likely pathogenic	2	229859399	229859400	Human	1	name
126741963	CV1016017	single nucleotide variant	NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu)	Clark-Baraitser syndrome [RCV001329830]	uncertain significance	2	229858810	229858810	Human	1	name
126741957	CV1016018	single nucleotide variant	NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val)	Clark-Baraitser syndrome [RCV001329829]	uncertain significance	2	229859096	229859096	Human	1	name
127262509	CV1059246	deletion	NM_001348323.3(TRIP12):c.1857del (p.Glu619fs)	not provided [RCV001380740]	pathogenic	2	229813999	229813999	Human		name
150480728	CV1208074	single nucleotide variant	NM_001348323.3(TRIP12):c.569A>G (p.Lys190Arg)	not provided [RCV001590351]	uncertain significance	2	229859230	229859230	Human		name
150546529	CV1301061	single nucleotide variant	NM_001348323.3(TRIP12):c.883A>G (p.Lys295Glu)	not provided [RCV001763544]	uncertain significance	2	229858916	229858916	Human		name
151662077	CV1330217	single nucleotide variant	NM_001348323.3(TRIP12):c.488A>T (p.Gln163Leu)	Clark-Baraitser syndrome [RCV001823629]	uncertain significance	2	229859311	229859311	Human	1	name
151662319	CV1333025	single nucleotide variant	NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr)	Clark-Baraitser syndrome [RCV001837257]\|Inborn genetic diseases [RCV002542800]\|not provided [RCV003434329]	likely benign\|uncertain significance	2	229859051	229859051	Human	2	name
151860267	CV1482933	single nucleotide variant	NM_001348323.3(TRIP12):c.785C>T (p.Ala262Val)	not provided [RCV001883831]	uncertain significance	2	229859014	229859014	Human		name
152102281	CV1667228	single nucleotide variant	NM_001348323.3(TRIP12):c.776C>T (p.Pro259Leu)	not provided [RCV002214214]	uncertain significance	2	229859023	229859023	Human		name
152999906	CV1683450	single nucleotide variant	NM_001348323.3(TRIP12):c.713C>G (p.Ser238Cys)	See cases [RCV002252634]	uncertain significance	2	229859086	229859086	Human		name
153349059	CV1693358	single nucleotide variant	NM_001348323.3(TRIP12):c.437C>A (p.Thr146Lys)	not provided [RCV002275443]	uncertain significance	2	229859362	229859362	Human		name
155642914	CV1707560	single nucleotide variant	NM_001348323.3(TRIP12):c.692G>C (p.Gly231Ala)	Clark-Baraitser syndrome [RCV002289021]	uncertain significance	2	229859107	229859107	Human	1	name
9686938	CV171342	single nucleotide variant	NM_001348323.3(TRIP12):c.850C>A (p.Pro284Thr)	Prostate cancer [RCV000149157]	uncertain significance	2	229858949	229858949	Human	2	name
155730233	CV1780758	single nucleotide variant	NM_001348323.3(TRIP12):c.449A>G (p.His150Arg)	not specified [RCV002308542]	uncertain significance	2	229859350	229859350	Human		name
155795549	CV1861366	single nucleotide variant	NM_001348323.3(TRIP12):c.371G>A (p.Arg124Lys)	not provided [RCV002469648]	uncertain significance	2	229859428	229859428	Human		name
155798704	CV1862123	single nucleotide variant	NM_001348323.3(TRIP12):c.935T>G (p.Val312Gly)	Clark-Baraitser syndrome [RCV002471526]	uncertain significance	2	229858864	229858864	Human	1	name
155956335	CV1936358	single nucleotide variant	NM_001348323.3(TRIP12):c.3354A>G (p.Ala1118=)	not provided [RCV002512023]	likely benign	2	229799003	229799003	Human		name
156370029	CV2204094	single nucleotide variant	NM_001348323.3(TRIP12):c.521A>G (p.Lys174Arg)	Inborn genetic diseases [RCV002652677]	likely benign	2	229859278	229859278	Human	1	name
156380899	CV2219019	single nucleotide variant	NM_001348323.3(TRIP12):c.836C>T (p.Ala279Val)	Inborn genetic diseases [RCV002678678]	likely benign	2	229858963	229858963	Human	1	name
156081613	CV2244334	single nucleotide variant	NM_001348323.3(TRIP12):c.799G>C (p.Gly267Arg)	Inborn genetic diseases [RCV002737947]	uncertain significance	2	229859000	229859000	Human	1	name
156291479	CV2321114	single nucleotide variant	NM_001348323.3(TRIP12):c.964C>A (p.Pro322Thr)	Clark-Baraitser syndrome [RCV003140189]\|Inborn genetic diseases [RCV002935643]	uncertain significance	2	229858835	229858835	Human	2	name
243051834	CV2404143	single nucleotide variant	NM_001348323.3(TRIP12):c.427C>T (p.Pro143Ser)	not provided [RCV003129169]	uncertain significance	2	229859372	229859372	Human		name
243064212	CV2411259	single nucleotide variant	NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser)	Clark-Baraitser syndrome [RCV003142831]	uncertain significance	2	229859470	229859470	Human	1	name
329394367	CV2469834	single nucleotide variant	NM_001348323.3(TRIP12):c.805G>A (p.Asp269Asn)	Inborn genetic diseases [RCV003218757]	uncertain significance	2	229858994	229858994	Human	1	name
329847176	CV2534336	single nucleotide variant	NM_001348323.3(TRIP12):c.984G>T (p.Glu328Asp)	not provided [RCV003228545]	uncertain significance	2	229858815	229858815	Human		name
329954014	CV2669355	single nucleotide variant	NM_001348323.3(TRIP12):c.650C>G (p.Pro217Arg)	not provided [RCV003231862]	uncertain significance	2	229859149	229859149	Human		name
329953004	CV2669713	single nucleotide variant	NM_001348323.3(TRIP12):c.334C>T (p.Arg112Ter)	not provided [RCV003234337]	pathogenic	2	229859465	229859465	Human		name
329952793	CV2670142	single nucleotide variant	NM_001348323.3(TRIP12):c.505T>A (p.Ser169Thr)	not provided [RCV003233352]	uncertain significance	2	229859294	229859294	Human		name
401726179	CV2736082	single nucleotide variant	NM_001348323.3(TRIP12):c.4812A>G (p.Thr1604=)	TRIP12-related disorder [RCV003973790]\|not provided [RCV003312528]	benign	2	229788824	229788824	Human	1	name , trait , alternate_id
401859664	CV2771784	single nucleotide variant	NM_001348323.3(TRIP12):c.952A>G (p.Lys318Glu)	Inborn genetic diseases [RCV003357175]	uncertain significance	2	229858847	229858847	Human	1	name
401931327	CV2800856	single nucleotide variant	NM_001348323.3(TRIP12):c.971C>G (p.Ser324Cys)	TRIP12-related disorder [RCV003391314]	uncertain significance	2	229858828	229858828	Human		name , trait , alternate_id
401912461	CV2803056	single nucleotide variant	NM_001348323.3(TRIP12):c.600G>T (p.Lys200Asn)	TRIP12-related disorder [RCV003399856]	uncertain significance	2	229859199	229859199	Human		name , trait , alternate_id
401919647	CV2819005	single nucleotide variant	NM_001348323.3(TRIP12):c.5841C>T (p.Asp1947=)	not provided [RCV003431158]	likely benign	2	229769293	229769293	Human		name
401930320	CV2819006	single nucleotide variant	NM_001348323.3(TRIP12):c.5382C>A (p.Gly1794=)	not provided [RCV003440213]	likely benign	2	229777462	229777462	Human		name
401919485	CV2819007	single nucleotide variant	NM_001348323.3(TRIP12):c.5376C>A (p.Pro1792=)	not provided [RCV003431159]	likely benign	2	229777468	229777468	Human		name
401919487	CV2819008	single nucleotide variant	NM_001348323.3(TRIP12):c.5106T>C (p.Gly1702=)	not provided [RCV003431160]	likely benign	2	229778979	229778979	Human		name
401930319	CV2819009	single nucleotide variant	NM_001348323.3(TRIP12):c.4863C>T (p.Thr1621=)	not provided [RCV003440214]	likely benign	2	229787637	229787637	Human		name
401919489	CV2819010	single nucleotide variant	NM_001348323.3(TRIP12):c.4626G>A (p.Pro1542=)	not provided [RCV003431161]	likely benign	2	229789680	229789680	Human		name
401930318	CV2819011	single nucleotide variant	NM_001348323.3(TRIP12):c.4287G>A (p.Pro1429=)	not provided [RCV003440215]	likely benign	2	229791994	229791994	Human		name
401930317	CV2819013	single nucleotide variant	NM_001348323.3(TRIP12):c.3870G>A (p.Leu1290=)	not provided [RCV003440216]	benign	2	229795277	229795277	Human		name
401919495	CV2819020	single nucleotide variant	NM_001348323.3(TRIP12):c.920G>A (p.Arg307His)	TRIP12-related disorder [RCV003908928]\|not provided [RCV003431165]	likely benign	2	229858879	229858879	Human	1	name , trait , alternate_id
401944619	CV2840383	single nucleotide variant	NM_001348323.3(TRIP12):c.3054A>T (p.Pro1018=)	not provided [RCV003457321]	likely benign	2	229802404	229802404	Human		name
405218642	CV2869875	single nucleotide variant	NM_001348323.3(TRIP12):c.638G>A (p.Arg213Lys)	not provided [RCV003553552]	uncertain significance	2	229859161	229859161	Human		name
405126449	CV3053380	single nucleotide variant	NM_001348323.3(TRIP12):c.625G>C (p.Gly209Arg)	not provided [RCV003724351]	uncertain significance	2	229859174	229859174	Human		name
405265053	CV3185461	single nucleotide variant	NM_001348323.3(TRIP12):c.4137T>C (p.Val1379=)	not provided [RCV003886025]	likely benign	2	229792977	229792977	Human		name
405258883	CV3194212	single nucleotide variant	NM_001348323.3(TRIP12):c.5769C>T (p.Val1923=)	TRIP12-related disorder [RCV003893793]	likely benign	2	229771558	229771558	Human		name , trait , alternate_id
405259806	CV3195180	single nucleotide variant	NM_001348323.3(TRIP12):c.4914A>G (p.Gln1638=)	TRIP12-related disorder [RCV003894376]	likely benign	2	229787586	229787586	Human		name , trait , alternate_id
405294612	CV3209121	single nucleotide variant	NM_001348323.3(TRIP12):c.4257G>A (p.Leu1419=)	TRIP12-related disorder [RCV003934512]	likely benign	2	229792024	229792024	Human		name , trait , alternate_id
405270455	CV3211451	single nucleotide variant	NM_001348323.3(TRIP12):c.6123G>A (p.Pro2041=)	TRIP12-related disorder [RCV003949340]	likely benign	2	229767635	229767635	Human		name , trait , alternate_id
405270918	CV3218830	single nucleotide variant	NM_001348323.3(TRIP12):c.761C>A (p.Ala254Asp)	TRIP12-related disorder [RCV003971588]	uncertain significance	2	229859038	229859038	Human		name , trait , alternate_id
405267337	CV3219305	single nucleotide variant	NM_001348323.3(TRIP12):c.5802G>A (p.Pro1934=)	TRIP12-related disorder [RCV003969564]	likely benign	2	229771525	229771525	Human		name , trait , alternate_id
405265620	CV3220725	single nucleotide variant	NM_001348323.3(TRIP12):c.718T>G (p.Ser240Ala)	TRIP12-related disorder [RCV003968923]	likely benign	2	229859081	229859081	Human		name , trait , alternate_id
405695039	CV3226555	single nucleotide variant	NM_001348323.3(TRIP12):c.730A>G (p.Thr244Ala)	not provided [RCV003992948]	likely benign	2	229859069	229859069	Human		name
405797867	CV3347401	single nucleotide variant	NM_001348323.3(TRIP12):c.764C>G (p.Ser255Cys)	Inborn genetic diseases [RCV004476326]	uncertain significance	2	229859035	229859035	Human	1	name
407429314	CV3413701	deletion	NM_001348323.3(TRIP12):c.2624del (p.Pro875fs)	Clark-Baraitser syndrome [RCV004595110]	pathogenic	2	229805756	229805756	Human	1	name
407461646	CV3490799	single nucleotide variant	NM_001348323.3(TRIP12):c.985A>T (p.Thr329Ser)	Inborn genetic diseases [RCV004687702]	likely benign	2	229858814	229858814	Human	1	name
596922745	CV3537377	single nucleotide variant	NM_001348323.3(TRIP12):c.562A>G (p.Ser188Gly)	not provided [RCV004787347]	uncertain significance	2	229859237	229859237	Human		name
597625281	CV3614713	single nucleotide variant	NM_001348323.3(TRIP12):c.824G>T (p.Arg275Leu)	Inborn genetic diseases [RCV004964468]\|not provided [RCV005109950]\|not specified [RCV005241053]	uncertain significance	2	229858975	229858975	Human	1	name
597627873	CV3614719	single nucleotide variant	NM_001348323.3(TRIP12):c.835G>A (p.Ala279Thr)	Clark-Baraitser syndrome [RCV005023746]\|Inborn genetic diseases [RCV004964474]	uncertain significance	2	229858964	229858964	Human	2	name
597625293	CV3614721	single nucleotide variant	NM_001348323.3(TRIP12):c.400C>A (p.Pro134Thr)	Inborn genetic diseases [RCV004964476]	uncertain significance	2	229859399	229859399	Human	1	name
597625308	CV3614730	single nucleotide variant	NM_001348323.3(TRIP12):c.878A>G (p.Gln293Arg)	Inborn genetic diseases [RCV004964485]	uncertain significance	2	229858921	229858921	Human	1	name
597719825	CV3733542	single nucleotide variant	NM_001348323.3(TRIP12):c.554G>A (p.Gly185Asp)	not provided [RCV005052732]	uncertain significance	2	229859245	229859245	Human		name
597833590	CV3735029	single nucleotide variant	NM_001348323.3(TRIP12):c.593G>C (p.Cys198Ser)	not provided [RCV005054762]	uncertain significance	2	229859206	229859206	Human		name
597967039	CV3855704	single nucleotide variant	NM_001348323.3(TRIP12):c.514A>G (p.Thr172Ala)	not provided [RCV005194684]	uncertain significance	2	229859285	229859285	Human		name
598129619	CV3887036	single nucleotide variant	NM_001348323.3(TRIP12):c.3069G>A (p.Thr1023=)	not provided [RCV005245096]	likely benign	2	229802389	229802389	Human		name
598236162	CV3931893	single nucleotide variant	NM_001348323.3(TRIP12):c.547A>G (p.Thr183Ala)	Inborn genetic diseases [RCV005295974]	likely benign	2	229859252	229859252	Human	1	name
598236167	CV3931895	single nucleotide variant	NM_001348323.3(TRIP12):c.844C>T (p.Pro282Ser)	Inborn genetic diseases [RCV005295975]	uncertain significance	2	229858955	229858955	Human	1	name
598188676	CV4008614	single nucleotide variant	NM_001348323.3(TRIP12):c.564T>A (p.Ser188Arg)	Clark-Baraitser syndrome [RCV005396113]	uncertain significance	2	229859235	229859235	Human	1	name
598188684	CV4008615	single nucleotide variant	NM_001348323.3(TRIP12):c.740C>T (p.Ser247Leu)	Clark-Baraitser syndrome [RCV005396114]	uncertain significance	2	229859059	229859059	Human	1	name
616937775	CV4012973	single nucleotide variant	NM_001348323.3(TRIP12):c.382C>A (p.Pro128Thr)	not provided [RCV005410438]	uncertain significance	2	229859417	229859417	Human		name
616936702	CV4016377	single nucleotide variant	NM_001348323.3(TRIP12):c.440A>T (p.Asn147Ile)	not provided [RCV005415243]	uncertain significance	2	229859359	229859359	Human		name
617150650	CV4018885	single nucleotide variant	NM_001348323.3(TRIP12):c.351T>A (p.Ser117Arg)	not provided [RCV005423293]	uncertain significance	2	229859448	229859448	Human		name
617150745	CV4019213	single nucleotide variant	NM_001348323.3(TRIP12):c.618A>T (p.Glu206Asp)	not provided [RCV005423621]	uncertain significance	2	229859181	229859181	Human		name
617153311	CV4021197	single nucleotide variant	NM_001348323.3(TRIP12):c.3429G>A (p.Ala1143=)	not provided [RCV005428950]	likely benign	2	229798928	229798928	Human		name
13528385	CV513412	deletion	NM_001348323.3(TRIP12):c.1279del (p.Ser427fs)	TRIP12 associated autism with facial dysmorphology [RCV000625976]	pathogenic	2	229830831	229830831	Human		name , trait
13837982	CV589281	single nucleotide variant	NM_001348323.3(TRIP12):c.533G>A (p.Arg178Lys)	not provided [RCV000734555]	uncertain significance	2	229859266	229859266	Human		name
21071112	CV790208	single nucleotide variant	NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala)	Clark-Baraitser syndrome [RCV000987053]\|Inborn genetic diseases [RCV004962980]\|not provided [RCV003329354]	uncertain significance	2	229858816	229858816	Human	2	name
34890946	CV904418	single nucleotide variant	NM_001348323.3(TRIP12):c.878A>C (p.Gln293Pro)	not provided [RCV001171824]	uncertain significance	2	229858921	229858921	Human		name
38468590	CV920677	single nucleotide variant	NM_001348323.3(TRIP12):c.629C>A (p.Ala210Glu)	not provided [RCV001200645]	uncertain significance	2	229859170	229859170	Human		name
40889956	CV975034	duplication	NM_001348323.3(TRIP12):c.1373dup (p.Leu459fs)	not provided [RCV001268490]	likely pathogenic	2	229829269	229829270	Human		name
126732233	CV1000327	single nucleotide variant	NM_001348323.3(TRIP12):c.2021T>C (p.Phe674Ser)	not provided [RCV001310778]	uncertain significance	2	229811170	229811170	Human		name
126741953	CV1016015	duplication	NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs)	Clark-Baraitser syndrome [RCV001329828]	pathogenic	2	229777384	229777385	Human	1	name
127230412	CV1087030	deletion	NM_001348323.3(TRIP12):c.5215del (p.Gln1739fs)	See cases [RCV001420311]	pathogenic	2	229778582	229778582	Human		name
150335103	CV1165607	single nucleotide variant	NM_001348323.3(TRIP12):c.1219G>T (p.Ala407Ser)	not provided [RCV001531351]	uncertain significance	2	229836899	229836899	Human		name
150338121	CV1173805	deletion	NM_001348323.3(TRIP12):c.3779del (p.Arg1260fs)	not provided [RCV001542061]	pathogenic	2	229796628	229796628	Human		name
150424924	CV1183128	deletion	NM_001348323.3(TRIP12):c.4995del (p.Lys1665fs)	not provided [RCV001557318]	pathogenic	2	229787505	229787505	Human		name
150452897	CV1275351	deletion	NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)	Clark-Baraitser syndrome [RCV001706865]	pathogenic	2	229788910	229788910	Human	1	name
150520434	CV1289645	single nucleotide variant	NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys)	Clark-Baraitser syndrome [RCV001730064]	uncertain significance	2	229836958	229836958	Human	1	name
150550973	CV1292350	single nucleotide variant	NM_001348323.3(TRIP12):c.2098G>A (p.Val700Ile)	not provided [RCV001753957]	uncertain significance	2	229811003	229811003	Human		name
150551079	CV1292476	single nucleotide variant	NM_001348323.3(TRIP12):c.2318A>G (p.Tyr773Cys)	not provided [RCV001754083]	uncertain significance	2	229808273	229808273	Human		name
150545504	CV1293830	single nucleotide variant	NM_001348323.3(TRIP12):c.2093C>T (p.Thr698Ile)	not provided [RCV001763011]	uncertain significance	2	229811008	229811008	Human		name
150533664	CV1294299	single nucleotide variant	NM_001348323.3(TRIP12):c.2156T>C (p.Val719Ala)	not provided [RCV001758317]	uncertain significance	2	229810945	229810945	Human		name
150551427	CV1297360	single nucleotide variant	NM_001348323.3(TRIP12):c.2843T>C (p.Leu948Pro)	not provided [RCV001767042]	uncertain significance	2	229804035	229804035	Human		name
150545775	CV1297582	single nucleotide variant	NM_001348323.3(TRIP12):c.1156A>G (p.Lys386Glu)	not provided [RCV001763170]	uncertain significance	2	229836962	229836962	Human		name
150553086	CV1298107	single nucleotide variant	NM_001348323.3(TRIP12):c.1135C>T (p.Arg379Trp)	not provided [RCV001768720]	uncertain significance	2	229836983	229836983	Human		name
150531073	CV1299277	single nucleotide variant	NM_001348323.3(TRIP12):c.1112C>G (p.Thr371Arg)	not provided [RCV001756970]	uncertain significance	2	229840843	229840843	Human		name
150552239	CV1301178	single nucleotide variant	NM_001348323.3(TRIP12):c.2252G>C (p.Cys751Ser)	not provided [RCV001767588]	uncertain significance	2	229808339	229808339	Human		name
150548138	CV1305022	single nucleotide variant	NM_001348323.3(TRIP12):c.2912T>G (p.Leu971Arg)	not provided [RCV001764144]	uncertain significance	2	229803657	229803657	Human		name
151232610	CV1316699	single nucleotide variant	NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter)	Clark-Baraitser syndrome [RCV001786525]	pathogenic	2	229804102	229804102	Human	1	name
151352227	CV1322319	single nucleotide variant	NM_001348323.3(TRIP12):c.2996A>T (p.Glu999Val)	not provided [RCV001806942]	likely pathogenic	2	229803573	229803573	Human		name
151661654	CV1329937	single nucleotide variant	NM_001348323.3(TRIP12):c.1927G>C (p.Asp643His)	not provided [RCV001823347]	uncertain significance	2	229813929	229813929	Human		name
151716903	CV1334791	single nucleotide variant	NM_001348323.3(TRIP12):c.2355T>G (p.Cys785Trp)	Developmental disorder [RCV001843747]	likely benign	2	229807849	229807849	Human	1	name
152156690	CV1668676	single nucleotide variant	NM_001348323.3(TRIP12):c.2362A>G (p.Lys788Glu)	not specified [RCV002222902]	uncertain significance	2	229807842	229807842	Human		name
153304991	CV1687438	single nucleotide variant	NM_001348323.3(TRIP12):c.2389A>G (p.Met797Val)	Inborn genetic diseases [RCV004047431]\|not provided [RCV002263258]	uncertain significance	2	229807815	229807815	Human	1	name
153301958	CV1689382	single nucleotide variant	NM_001348323.3(TRIP12):c.1282G>C (p.Val428Leu)	not provided [RCV002267332]	uncertain significance	2	229830828	229830828	Human		name
153302250	CV1689519	single nucleotide variant	NM_001348323.3(TRIP12):c.1671G>A (p.Met557Ile)	not provided [RCV002267470]	uncertain significance	2	229815159	229815159	Human		name
153303642	CV1690395	single nucleotide variant	NM_001348323.3(TRIP12):c.1252G>A (p.Ala418Thr)	not provided [RCV002269438]	uncertain significance	2	229836866	229836866	Human		name
155644309	CV1708583	single nucleotide variant	NM_001348323.3(TRIP12):c.1090C>T (p.Arg364Trp)	Clark-Baraitser syndrome [RCV002291116]	uncertain significance	2	229840865	229840865	Human	1	name
155730361	CV1780787	single nucleotide variant	NM_001348323.3(TRIP12):c.1019A>G (p.Lys340Arg)	not specified [RCV002308572]	uncertain significance	2	229858780	229858780	Human		name
155798236	CV1860623	single nucleotide variant	NM_001348323.3(TRIP12):c.1255C>T (p.Pro419Ser)	not provided [RCV002467265]	uncertain significance	2	229836863	229836863	Human		name
155795357	CV1861255	single nucleotide variant	NM_001348323.3(TRIP12):c.2381T>C (p.Val794Ala)	not provided [RCV002469536]	uncertain significance	2	229807823	229807823	Human		name
155800418	CV1863567	single nucleotide variant	NM_001348323.3(TRIP12):c.1382C>T (p.Pro461Leu)	not provided [RCV002473990]	uncertain significance	2	229829261	229829261	Human		name
155982800	CV1896872	single nucleotide variant	NM_001348323.3(TRIP12):c.2707C>T (p.Pro903Ser)	not provided [RCV003097468]	uncertain significance	2	229804171	229804171	Human		name
156401397	CV2207144	single nucleotide variant	NM_001348323.3(TRIP12):c.2887G>A (p.Ala963Thr)	Inborn genetic diseases [RCV002656944]	uncertain significance	2	229803682	229803682	Human	1	name
156225194	CV2219543	single nucleotide variant	NM_001348323.3(TRIP12):c.1013A>G (p.Gln338Arg)	Inborn genetic diseases [RCV002712392]\|TRIP12-related disorder [RCV003410162]	uncertain significance	2	229858786	229858786	Human	2	name , trait , alternate_id
156073806	CV2230017	single nucleotide variant	NM_001348323.3(TRIP12):c.1954C>T (p.Leu652Phe)	Inborn genetic diseases [RCV002737515]	uncertain significance	2	229813902	229813902	Human	1	name
156128830	CV2238485	single nucleotide variant	NM_001348323.3(TRIP12):c.1916G>A (p.Ser639Asn)	Inborn genetic diseases [RCV002762799]	uncertain significance	2	229813940	229813940	Human	1	name
156254802	CV2264678	single nucleotide variant	NM_001348323.3(TRIP12):c.2162G>A (p.Arg721His)	Inborn genetic diseases [RCV002831339]	uncertain significance	2	229810939	229810939	Human	1	name
156086689	CV2340734	single nucleotide variant	NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr)	Clark-Baraitser syndrome [RCV003140199]\|Inborn genetic diseases [RCV002952120]	uncertain significance	2	229808318	229808318	Human	2	name
156176888	CV2355812	single nucleotide variant	NM_001348323.3(TRIP12):c.1123G>A (p.Ala375Thr)	Inborn genetic diseases [RCV002983810]	uncertain significance	2	229840832	229840832	Human	1	name
156206876	CV2382296	single nucleotide variant	NM_001348323.3(TRIP12):c.1823C>T (p.Ala608Val)	Clark-Baraitser syndrome [RCV003140225]\|Inborn genetic diseases [RCV002743812]\|TRIP12-related disorder [RCV003928934]\|not provided [RCV004546782]	benign\|likely benign\|uncertain significance	2	229814234	229814234	Human	2	name , trait , alternate_id
156390612	CV2383261	single nucleotide variant	NM_001348323.3(TRIP12):c.1165G>A (p.Ala389Thr)	Inborn genetic diseases [RCV002724645]	likely benign	2	229836953	229836953	Human	1	name
243064206	CV2411253	single nucleotide variant	NM_001348323.3(TRIP12):c.2396A>G (p.Lys799Arg)	Clark-Baraitser syndrome [RCV003142825]	uncertain significance	2	229807808	229807808	Human	1	name
243064208	CV2411255	single nucleotide variant	NM_001348323.3(TRIP12):c.2009C>T (p.Thr670Ile)	Clark-Baraitser syndrome [RCV003142827]	uncertain significance	2	229811182	229811182	Human	1	name
243064210	CV2411257	single nucleotide variant	NM_001348323.3(TRIP12):c.1922C>T (p.Thr641Met)	Clark-Baraitser syndrome [RCV003142829]\|TRIP12-related disorder [RCV003936708]\|not provided [RCV003435984]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	229813934	229813934	Human	1	name , trait , alternate_id
243064211	CV2411258	single nucleotide variant	NM_001348323.3(TRIP12):c.1177C>T (p.Arg393Cys)	Clark-Baraitser syndrome [RCV003142830]	uncertain significance	2	229836941	229836941	Human	1	name
243062027	CV2414232	deletion	NM_001348323.3(TRIP12):c.5675del (p.Asn1892fs)	Clark-Baraitser syndrome [RCV003139301]	pathogenic	2	229774116	229774116	Human	1	name
243049706	CV2417261	single nucleotide variant	NM_001348323.3(TRIP12):c.1685G>A (p.Arg562Gln)	not provided [RCV003152133]	uncertain significance	2	229815145	229815145	Human		name
329395523	CV2458437	single nucleotide variant	NM_001348323.3(TRIP12):c.1078C>G (p.Pro360Ala)	Inborn genetic diseases [RCV003194441]	uncertain significance	2	229840877	229840877	Human	1	name
329369998	CV2461305	single nucleotide variant	NM_001348323.3(TRIP12):c.2335A>G (p.Ile779Val)	Inborn genetic diseases [RCV003209231]	uncertain significance	2	229808256	229808256	Human	1	name
329395571	CV2473214	single nucleotide variant	NM_001348323.3(TRIP12):c.2065C>T (p.Gln689Ter)	Clark-Baraitser syndrome [RCV003219196]	pathogenic	2	229811036	229811036	Human	1	name
329954426	CV2669110	single nucleotide variant	NM_001348323.3(TRIP12):c.1754A>T (p.Asp585Val)	See cases [RCV003232943]	uncertain significance	2	229814303	229814303	Human		name
329952700	CV2670042	single nucleotide variant	NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)	Clark-Baraitser syndrome [RCV003233254]	not provided	2	229818453	229818453	Human		name
401796339	CV2740521	single nucleotide variant	NM_001348323.3(TRIP12):c.1391T>C (p.Phe464Ser)	not provided [RCV003321191]	uncertain significance	2	229829252	229829252	Human		name
401795853	CV2742814	single nucleotide variant	NM_001348323.3(TRIP12):c.1819C>T (p.Gln607Ter)	not provided [RCV003325330]	likely pathogenic	2	229814238	229814238	Human		name
401828948	CV2743363	deletion	NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)	Clark-Baraitser syndrome [RCV003326205]	pathogenic\|likely pathogenic	2	229795278	229795278	Human	1	name
401830160	CV2744157	single nucleotide variant	NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)	Clark-Baraitser syndrome [RCV003327354]\|not provided [RCV005425132]	pathogenic	2	229858787	229858787	Human	1	name
401868165	CV2749237	single nucleotide variant	NM_001348323.3(TRIP12):c.1958C>A (p.Pro653Gln)	not specified [RCV003332064]	uncertain significance	2	229813898	229813898	Human		name
401873109	CV2749718	single nucleotide variant	NM_001348323.3(TRIP12):c.1011A>T (p.Leu337Phe)	not provided [RCV003332847]	uncertain significance	2	229858788	229858788	Human		name
401873280	CV2752066	deletion	NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)	Clark-Baraitser syndrome [RCV003335943]	pathogenic	2	229791964	229791964	Human	1	name
401867673	CV2780736	single nucleotide variant	NM_001348323.3(TRIP12):c.1885G>T (p.Ala629Ser)	Inborn genetic diseases [RCV003360288]	uncertain significance	2	229813971	229813971	Human	1	name
401913350	CV2801560	single nucleotide variant	NM_001348323.3(TRIP12):c.1477G>A (p.Gly493Arg)	TRIP12-related disorder [RCV003400052]	uncertain significance	2	229818486	229818486	Human		name , trait , alternate_id
401906192	CV2802695	single nucleotide variant	NM_001348323.3(TRIP12):c.1277G>A (p.Ser426Asn)	TRIP12-related disorder [RCV003421135]	uncertain significance	2	229830833	229830833	Human		name , trait , alternate_id
401909323	CV2803958	single nucleotide variant	NM_001348323.3(TRIP12):c.1244C>T (p.Thr415Ile)	TRIP12-related disorder [RCV003397832]	uncertain significance	2	229836874	229836874	Human		name , trait , alternate_id
401930315	CV2819017	single nucleotide variant	NM_001348323.3(TRIP12):c.2282A>C (p.Gln761Pro)	not provided [RCV003440218]	uncertain significance	2	229808309	229808309	Human		name
401914530	CV2830734	single nucleotide variant	NM_001348323.3(TRIP12):c.2045A>G (p.Gln682Arg)	not provided [RCV003442472]	uncertain significance	2	229811146	229811146	Human		name
401914781	CV2830834	single nucleotide variant	NM_001348323.3(TRIP12):c.2853T>A (p.Asp951Glu)	not provided [RCV003442573]	uncertain significance	2	229804025	229804025	Human		name
401915161	CV2830982	single nucleotide variant	NM_001348323.3(TRIP12):c.2107C>A (p.Leu703Met)	not provided [RCV003442722]	uncertain significance	2	229810994	229810994	Human		name
404999426	CV2851308	single nucleotide variant	NM_001348323.3(TRIP12):c.2096A>G (p.Asn699Ser)	Clark-Baraitser syndrome [RCV003493203]	uncertain significance	2	229811005	229811005	Human	1	name
405063681	CV2868559	single nucleotide variant	NM_001348323.3(TRIP12):c.1214A>G (p.Gln405Arg)	not provided [RCV003548086]	uncertain significance	2	229836904	229836904	Human		name
405283290	CV3191318	single nucleotide variant	NM_001348323.3(TRIP12):c.1240C>T (p.Arg414Trp)	TRIP12-related disorder [RCV003921716]	likely benign	2	229836878	229836878	Human		name , trait , alternate_id
405281476	CV3224149	single nucleotide variant	NM_001348323.3(TRIP12):c.2486G>A (p.Arg829Gln)	not specified [RCV003988531]	uncertain significance	2	229807718	229807718	Human		name
405797840	CV3347392	single nucleotide variant	NM_001348323.3(TRIP12):c.1381C>G (p.Pro461Ala)	Inborn genetic diseases [RCV004476317]	likely benign	2	229829262	229829262	Human	1	name
405797846	CV3347394	single nucleotide variant	NM_001348323.3(TRIP12):c.2812C>G (p.Leu938Val)	Inborn genetic diseases [RCV004476319]	uncertain significance	2	229804066	229804066	Human	1	name
405797849	CV3347395	single nucleotide variant	NM_001348323.3(TRIP12):c.2872G>A (p.Val958Ile)	Inborn genetic diseases [RCV004476320]	uncertain significance	2	229804006	229804006	Human	1	name
407480598	CV3415311	deletion	NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)	Clark-Baraitser syndrome [RCV004596020]	pathogenic	2	229797763	229797763	Human	1	name
407454217	CV3490802	single nucleotide variant	NM_001348323.3(TRIP12):c.2387C>A (p.Thr796Asn)	Inborn genetic diseases [RCV004684911]	uncertain significance	2	229807817	229807817	Human	1	name
407454219	CV3490805	single nucleotide variant	NM_001348323.3(TRIP12):c.1943T>C (p.Val648Ala)	Inborn genetic diseases [RCV004684913]	uncertain significance	2	229813913	229813913	Human	1	name
407454221	CV3490807	single nucleotide variant	NM_001348323.3(TRIP12):c.2224A>G (p.Ile742Val)	Inborn genetic diseases [RCV004684915]	uncertain significance	2	229808367	229808367	Human	1	name
407454222	CV3490808	single nucleotide variant	NM_001348323.3(TRIP12):c.2945A>C (p.Glu982Ala)	Inborn genetic diseases [RCV004684916]	uncertain significance	2	229803624	229803624	Human	1	name
407476968	CV3495028	single nucleotide variant	NM_001348323.3(TRIP12):c.2353T>C (p.Cys785Arg)	not specified [RCV004690930]	uncertain significance	2	229807851	229807851	Human		name
408385438	CV3520137	single nucleotide variant	NM_001348323.3(TRIP12):c.2166G>A (p.Met722Ile)	not provided [RCV004759958]	uncertain significance	2	229810935	229810935	Human		name
408385812	CV3520363	single nucleotide variant	NM_001348323.3(TRIP12):c.1886C>T (p.Ala629Val)	not provided [RCV004760184]	uncertain significance	2	229813970	229813970	Human		name
408392330	CV3525210	single nucleotide variant	NM_001348323.3(TRIP12):c.1148G>T (p.Gly383Val)	not provided [RCV004771096]	uncertain significance	2	229836970	229836970	Human		name
408392943	CV3525406	single nucleotide variant	NM_001348323.3(TRIP12):c.1262G>A (p.Gly421Glu)	not provided [RCV004771292]	uncertain significance	2	229836856	229836856	Human		name
408393056	CV3525444	single nucleotide variant	NM_001348323.3(TRIP12):c.2696T>C (p.Met899Thr)	not provided [RCV004771330]	uncertain significance	2	229804182	229804182	Human		name
408386228	CV3528831	single nucleotide variant	NM_001348323.3(TRIP12):c.1948G>T (p.Asp650Tyr)	not provided [RCV004772664]	uncertain significance	2	229813908	229813908	Human		name
408389271	CV3529303	single nucleotide variant	NM_001348323.3(TRIP12):c.1688C>T (p.Ser563Phe)	not provided [RCV004774125]	uncertain significance	2	229815142	229815142	Human		name
596921751	CV3535377	single nucleotide variant	NM_001348323.3(TRIP12):c.2293G>A (p.Val765Ile)	Clark-Baraitser syndrome [RCV004784932]\|Inborn genetic diseases [RCV004968655]	likely benign\|uncertain significance	2	229808298	229808298	Human	2	name
596925034	CV3536878	single nucleotide variant	NM_001348323.3(TRIP12):c.2071G>A (p.Val691Ile)	Clark-Baraitser syndrome [RCV004785872]	uncertain significance	2	229811030	229811030	Human	1	name
596925134	CV3536929	single nucleotide variant	NM_001348323.3(TRIP12):c.1439G>C (p.Gly480Ala)	Clark-Baraitser syndrome [RCV004785923]	uncertain significance	2	229829204	229829204	Human	1	name
596943291	CV3542868	single nucleotide variant	NM_001348323.3(TRIP12):c.1229C>A (p.Ser410Tyr)	not provided [RCV004798452]	uncertain significance	2	229836889	229836889	Human		name
596944908	CV3543562	single nucleotide variant	NM_001348323.3(TRIP12):c.2684G>C (p.Arg895Pro)	not provided [RCV004801684]	uncertain significance	2	229804194	229804194	Human		name
596942783	CV3544205	single nucleotide variant	NM_001348323.3(TRIP12):c.2141G>C (p.Gly714Ala)	not specified [RCV004800197]	uncertain significance	2	229810960	229810960	Human		name
596940033	CV3550780	single nucleotide variant	NM_001348323.3(TRIP12):c.1478G>A (p.Gly493Glu)	not provided [RCV004814680]	uncertain significance	2	229818485	229818485	Human		name
597650449	CV3551893	single nucleotide variant	NM_001348323.3(TRIP12):c.1406C>T (p.Pro469Leu)	not provided [RCV004820606]	uncertain significance	2	229829237	229829237	Human		name
597632975	CV3552928	single nucleotide variant	NM_001348323.3(TRIP12):c.2280A>T (p.Glu760Asp)	not provided [RCV004823758]	uncertain significance	2	229808311	229808311	Human		name
597625284	CV3614715	single nucleotide variant	NM_001348323.3(TRIP12):c.1142G>C (p.Gly381Ala)	Inborn genetic diseases [RCV004964470]	uncertain significance	2	229836976	229836976	Human	1	name
597625286	CV3614716	single nucleotide variant	NM_001348323.3(TRIP12):c.1201C>A (p.Pro401Thr)	Inborn genetic diseases [RCV004964471]	uncertain significance	2	229836917	229836917	Human	1	name
597625289	CV3614718	single nucleotide variant	NM_001348323.3(TRIP12):c.2734A>G (p.Thr912Ala)	Inborn genetic diseases [RCV004964473]	uncertain significance	2	229804144	229804144	Human	1	name
597625300	CV3614725	single nucleotide variant	NM_001348323.3(TRIP12):c.1983T>A (p.His661Gln)	Inborn genetic diseases [RCV004964480]	uncertain significance	2	229813873	229813873	Human	1	name
597834321	CV3735246	single nucleotide variant	NM_001348323.3(TRIP12):c.2090T>A (p.Leu697His)	Clark-Baraitser syndrome [RCV005054978]	uncertain significance	2	229811011	229811011	Human	1	name
598127259	CV3882539	single nucleotide variant	NM_001348323.3(TRIP12):c.1685G>T (p.Arg562Leu)	not provided [RCV005234091]	uncertain significance	2	229815145	229815145	Human		name
598215154	CV3890796	single nucleotide variant	NM_001348323.3(TRIP12):c.1090C>G (p.Arg364Gly)	not provided [RCV005251649]	uncertain significance	2	229840865	229840865	Human		name
598175770	CV3891033	single nucleotide variant	NM_001348323.3(TRIP12):c.2926G>A (p.Gly976Arg)	not provided [RCV005251886]	uncertain significance	2	229803643	229803643	Human		name
598217022	CV3891335	duplication	NM_001348323.3(TRIP12):c.5429dup (p.His1811fs)	Clark-Baraitser syndrome [RCV005252177]	likely pathogenic	2	229777414	229777415	Human	1	name
598214484	CV3931890	single nucleotide variant	NM_001348323.3(TRIP12):c.2639A>C (p.Asn880Thr)	Inborn genetic diseases [RCV005292540]	likely benign	2	229805741	229805741	Human	1	name
598188663	CV4008612	single nucleotide variant	NM_001348323.3(TRIP12):c.1604C>T (p.Thr535Met)	Clark-Baraitser syndrome [RCV005396111]	uncertain significance	2	229815304	229815304	Human	1	name
598188671	CV4008613	single nucleotide variant	NM_001348323.3(TRIP12):c.2477T>C (p.Ile826Thr)	Clark-Baraitser syndrome [RCV005396112]	likely benign	2	229807727	229807727	Human	1	name
616935529	CV4016091	single nucleotide variant	NM_001348323.3(TRIP12):c.1429A>G (p.Arg477Gly)	not provided [RCV005414957]	uncertain significance	2	229829214	229829214	Human		name
617149588	CV4017590	single nucleotide variant	NM_001348323.3(TRIP12):c.1213C>T (p.Gln405Ter)	not provided [RCV005417248]	pathogenic	2	229836905	229836905	Human		name
617149736	CV4021300	single nucleotide variant	NM_001348323.3(TRIP12):c.2264A>G (p.Asn755Ser)	not provided [RCV005425269]	likely benign	2	229808327	229808327	Human		name
617154422	CV4022550	single nucleotide variant	NM_001348323.3(TRIP12):c.1447G>C (p.Ala483Pro)	not provided [RCV005429907]	uncertain significance	2	229829196	229829196	Human		name
13463072	CV439487	duplication	NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs)	Clark-Baraitser syndrome [RCV000515149]\|Intellectual disability [RCV004798840]	pathogenic	2	229802253	229802254	Human	3	name
13509068	CV481645	single nucleotide variant	NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter)	Clark-Baraitser syndrome [RCV001262934]\|not provided [RCV000578894]	pathogenic	2	229815179	229815179	Human	1	name
13530155	CV511403	single nucleotide variant	NM_001348323.3(TRIP12):c.1240C>G (p.Arg414Gly)	Inborn genetic diseases [RCV000622280]	likely benign\|uncertain significance	2	229836878	229836878	Human	1	name
21068061	CV795189	single nucleotide variant	NM_001348323.3(TRIP12):c.2300G>A (p.Arg767Gln)	not provided [RCV000997696]	uncertain significance	2	229808291	229808291	Human		name
21404021	CV800918	single nucleotide variant	NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter)	Clark-Baraitser syndrome [RCV001003473]	pathogenic	2	229815146	229815146	Human	1	name
25320187	CV805293	deletion	NM_001348323.3(TRIP12):c.4076del (p.Gly1359fs)	not provided [RCV001009146]	pathogenic	2	229793038	229793038	Human		name
25318153	CV805295	deletion	NM_001348323.3(TRIP12):c.3757del (p.Asp1253fs)	not provided [RCV001008446]	pathogenic	2	229796650	229796650	Human		name
28877531	CV861563	deletion	NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)	Clark-Baraitser syndrome [RCV001095645]\|not provided [RCV004761932]	pathogenic\|likely pathogenic	2	229796599	229796599	Human	1	name
38457264	CV918748	duplication	NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs)	Clark-Baraitser syndrome [RCV001197191]	pathogenic	2	229791912	229791913	Human	1	name
38459396	CV918749	single nucleotide variant	NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp)	Clark-Baraitser syndrome [RCV001195808]	uncertain significance	2	229811153	229811153	Human	1	name
38459430	CV918750	single nucleotide variant	NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr)	Clark-Baraitser syndrome [RCV001195836]	uncertain significance	2	229829262	229829262	Human	1	name
38466061	CV918751	single nucleotide variant	NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg)	Clark-Baraitser syndrome [RCV001197332]	uncertain significance	2	229840918	229840918	Human	1	name
38465982	CV942638	single nucleotide variant	NM_001348323.3(TRIP12):c.1181G>A (p.Arg394Gln)	Inborn genetic diseases [RCV003166399]\|not provided [RCV001230223]	likely benign\|uncertain significance	2	229836937	229836937	Human	1	name
39456926	CV966237	single nucleotide variant	NM_001348323.3(TRIP12):c.1486G>A (p.Ala496Thr)	Clark-Baraitser syndrome [RCV004799382]	uncertain significance	2	229818477	229818477	Human	1	name
40814560	CV969471	single nucleotide variant	NM_001348323.3(TRIP12):c.2683C>T (p.Arg895Ter)	Intellectual disability [RCV001260813]\|not provided [RCV005251263]	pathogenic\|uncertain significance	2	229804195	229804195	Human	2	name
40814599	CV969472	single nucleotide variant	NM_001348323.3(TRIP12):c.1336G>T (p.Glu446Ter)	Intellectual disability [RCV001260842]	pathogenic	2	229830774	229830774	Human	2	name
40888979	CV973284	duplication	NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs)	Clark-Baraitser syndrome [RCV002471071]\|Inborn genetic diseases [RCV001266989]\|See cases [RCV003128566]\|not provided [RCV001268352]	pathogenic	2	229797823	229797824	Human	2	name
40887144	CV973285	single nucleotide variant	NM_001348323.3(TRIP12):c.2639A>G (p.Asn880Ser)	Inborn genetic diseases [RCV001266586]	uncertain significance	2	229805741	229805741	Human	1	name
42723766	CV984662	single nucleotide variant	NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe)	Clark-Baraitser syndrome [RCV001291782]	uncertain significance	2	229811030	229811030	Human	1	name
126741945	CV1016016	single nucleotide variant	NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val)	Clark-Baraitser syndrome [RCV001329827]	uncertain significance	2	229778489	229778489	Human	1	name
126729675	CV1019591	single nucleotide variant	NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu)	Clark-Baraitser syndrome [RCV001333210]	uncertain significance	2	229777415	229777415	Human	1	name
126729670	CV1019592	single nucleotide variant	NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys)	Clark-Baraitser syndrome [RCV001333209]	uncertain significance	2	229792028	229792028	Human	1	name
126729664	CV1019593	single nucleotide variant	NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val)	Clark-Baraitser syndrome [RCV001333208]\|not provided [RCV005428176]	likely benign\|uncertain significance	2	229795312	229795312	Human	1	name
126914250	CV1037159	single nucleotide variant	NM_001348323.3(TRIP12):c.4117A>G (p.Ile1373Val)	Inborn genetic diseases [RCV002548524]\|not provided [RCV001358094]	likely benign\|uncertain significance	2	229792997	229792997	Human	1	name
126908827	CV1052795	single nucleotide variant	NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn)	Clark-Baraitser syndrome [RCV001374614]	uncertain significance	2	229787572	229787572	Human	1	name
126909176	CV1053066	single nucleotide variant	NM_001348323.3(TRIP12):c.4909A>G (p.Met1637Val)	Neurodevelopmental disorder [RCV001375023]	uncertain significance	2	229787591	229787591	Human	1	name
127261101	CV1086979	single nucleotide variant	NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)	Clark-Baraitser syndrome [RCV001420158]\|not provided [RCV004590423]	pathogenic\|likely pathogenic	2	229787596	229787596	Human	1	name
150551074	CV1292470	single nucleotide variant	NM_001348323.3(TRIP12):c.5783A>G (p.His1928Arg)	not provided [RCV001754077]	uncertain significance	2	229771544	229771544	Human		name
150549507	CV1295286	single nucleotide variant	NM_001348323.3(TRIP12):c.4997G>A (p.Arg1666His)	not provided [RCV001765186]	uncertain significance	2	229785854	229785854	Human		name
150540750	CV1298473	single nucleotide variant	NM_001348323.3(TRIP12):c.3874G>T (p.Ala1292Ser)	not provided [RCV001760621]	uncertain significance	2	229795273	229795273	Human		name
150549773	CV1299866	single nucleotide variant	NM_001348323.3(TRIP12):c.3410T>C (p.Ile1137Thr)	not provided [RCV001765335]	uncertain significance	2	229798947	229798947	Human		name
150534360	CV1300553	single nucleotide variant	NM_001348323.3(TRIP12):c.3332C>T (p.Ser1111Leu)	not provided [RCV001758681]	uncertain significance	2	229799025	229799025	Human		name
150552363	CV1301326	single nucleotide variant	NM_001348323.3(TRIP12):c.5936G>A (p.Ser1979Asn)	not provided [RCV001767736]	uncertain significance	2	229768687	229768687	Human		name
150528102	CV1301625	single nucleotide variant	NM_001348323.3(TRIP12):c.5951A>T (p.Glu1984Val)	not provided [RCV001754997]	uncertain significance	2	229768672	229768672	Human		name
150556530	CV1303226	single nucleotide variant	NM_001348323.3(TRIP12):c.3569C>T (p.Pro1190Leu)	not provided [RCV001774419]	uncertain significance	2	229797745	229797745	Human		name
150547256	CV1315857	single nucleotide variant	NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly)	Clark-Baraitser syndrome [RCV001785207]	uncertain significance	2	229768685	229768685	Human	1	name
151350219	CV1324634	single nucleotide variant	NM_001348323.3(TRIP12):c.3434G>T (p.Gly1145Val)	Clark-Baraitser syndrome [RCV001809079]	uncertain significance	2	229798923	229798923	Human	1	name
151350223	CV1324635	single nucleotide variant	NM_001348323.3(TRIP12):c.3725T>C (p.Leu1242Pro)	Clark-Baraitser syndrome [RCV001809080]	uncertain significance	2	229796682	229796682	Human	1	name
151750849	CV1335595	single nucleotide variant	NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp)	Clark-Baraitser syndrome [RCV002471171]\|not provided [RCV001847437]	likely pathogenic\|uncertain significance	2	229787636	229787636	Human	1	name
152102269	CV1667226	single nucleotide variant	NM_001348323.3(TRIP12):c.6032T>G (p.Leu2011Trp)	not provided [RCV002214212]	likely pathogenic	2	229767726	229767726	Human		name
152999768	CV1683329	single nucleotide variant	NM_001348323.3(TRIP12):c.4002A>T (p.Lys1334Asn)	See cases [RCV002252513]	uncertain significance	2	229793112	229793112	Human		name
153303802	CV1690484	single nucleotide variant	NM_001348323.3(TRIP12):c.4726A>G (p.Ser1576Gly)	not provided [RCV002269528]	uncertain significance	2	229788910	229788910	Human		name
153347382	CV1692034	single nucleotide variant	NM_001348323.3(TRIP12):c.5062C>T (p.Arg1688Trp)	not provided [RCV002273519]	uncertain significance	2	229785789	229785789	Human		name
153348644	CV1692688	single nucleotide variant	NM_001348323.3(TRIP12):c.4132G>A (p.Val1378Ile)	not provided [RCV002274543]	uncertain significance	2	229792982	229792982	Human		name
155266784	CV1699314	single nucleotide variant	NM_001348323.3(TRIP12):c.4432G>C (p.Glu1478Gln)	not provided [RCV002283109]	uncertain significance	2	229791235	229791235	Human		name
155643024	CV1707652	single nucleotide variant	NM_001348323.3(TRIP12):c.4609A>G (p.Ile1537Val)	Clark-Baraitser syndrome [RCV002289113]	likely benign	2	229789697	229789697	Human	1	name
155644646	CV1710325	single nucleotide variant	NM_001348323.3(TRIP12):c.5906G>T (p.Arg1969Leu)	not provided [RCV002293621]	uncertain significance	2	229768717	229768717	Human		name
155797245	CV1863237	single nucleotide variant	NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val)	Clark-Baraitser syndrome [RCV002470511]	uncertain significance	2	229788847	229788847	Human	1	name
155956352	CV1936359	single nucleotide variant	NM_001348323.3(TRIP12):c.3215G>C (p.Ser1072Thr)	not provided [RCV002512024]	uncertain significance	2	229799375	229799375	Human		name
155973895	CV2211106	single nucleotide variant	NM_001348323.3(TRIP12):c.5053G>A (p.Gly1685Ser)	Inborn genetic diseases [RCV002687745]	uncertain significance	2	229785798	229785798	Human	1	name
156327893	CV2219961	single nucleotide variant	NM_001348323.3(TRIP12):c.4495A>G (p.Thr1499Ala)	Inborn genetic diseases [RCV002717635]	uncertain significance	2	229791172	229791172	Human	1	name
155965857	CV2261845	single nucleotide variant	NM_001348323.3(TRIP12):c.4684T>C (p.Tyr1562His)	Inborn genetic diseases [RCV002817259]	uncertain significance	2	229789622	229789622	Human	1	name
156252173	CV2268371	single nucleotide variant	NM_001348323.3(TRIP12):c.6164T>A (p.Ile2055Lys)	Inborn genetic diseases [RCV002831191]	uncertain significance	2	229767594	229767594	Human	1	name
156139576	CV2280758	single nucleotide variant	NM_001348323.3(TRIP12):c.6014G>A (p.Arg2005Gln)	Inborn genetic diseases [RCV002850214]	uncertain significance	2	229767744	229767744	Human	1	name
156009634	CV2290912	single nucleotide variant	NM_001348323.3(TRIP12):c.5449G>A (p.Asp1817Asn)	Inborn genetic diseases [RCV002883984]	uncertain significance	2	229777395	229777395	Human	1	name
156203167	CV2399671	single nucleotide variant	NM_001348323.3(TRIP12):c.4654G>A (p.Val1552Ile)	Inborn genetic diseases [RCV002789905]	likely benign	2	229789652	229789652	Human	1	name
243051604	CV2403965	single nucleotide variant	NM_001348323.3(TRIP12):c.4493C>A (p.Pro1498Gln)	not provided [RCV003129026]	uncertain significance	2	229791174	229791174	Human		name
243051875	CV2404183	single nucleotide variant	NM_001348323.3(TRIP12):c.4675T>C (p.Tyr1559His)	not provided [RCV003129209]	uncertain significance	2	229789631	229789631	Human		name
243064207	CV2411254	single nucleotide variant	NM_001348323.3(TRIP12):c.3782T>C (p.Leu1261Ser)	Clark-Baraitser syndrome [RCV003142826]	uncertain significance	2	229796625	229796625	Human	1	name
243064209	CV2411256	single nucleotide variant	NM_001348323.3(TRIP12):c.4610T>C (p.Ile1537Thr)	Clark-Baraitser syndrome [RCV003142828]	uncertain significance	2	229789696	229789696	Human	1	name
243064214	CV2411261	single nucleotide variant	NM_001348323.3(TRIP12):c.3399C>G (p.Asn1133Lys)	Clark-Baraitser syndrome [RCV003142833]	uncertain significance	2	229798958	229798958	Human	1	name
243064215	CV2411262	single nucleotide variant	NM_001348323.3(TRIP12):c.4277A>G (p.His1426Arg)	Clark-Baraitser syndrome [RCV003142834]	uncertain significance	2	229792004	229792004	Human	1	name
243050062	CV2419547	single nucleotide variant	NM_001348323.3(TRIP12):c.3787C>T (p.Arg1263Ter)	not provided [RCV003156479]	pathogenic	2	229796620	229796620	Human		name
329366391	CV2445700	single nucleotide variant	NM_001348323.3(TRIP12):c.4330C>G (p.Gln1444Glu)	Inborn genetic diseases [RCV003207725]	uncertain significance	2	229791951	229791951	Human	1	name
329848649	CV2523396	single nucleotide variant	NM_001348323.3(TRIP12):c.4409C>A (p.Thr1470Lys)	not provided [RCV003225410]	uncertain significance	2	229791872	229791872	Human		name
329953651	CV2668515	single nucleotide variant	NM_001348323.3(TRIP12):c.4496C>A (p.Thr1499Lys)	not provided [RCV003230168]	uncertain significance	2	229791171	229791171	Human		name
329953085	CV2669794	single nucleotide variant	NM_001348323.3(TRIP12):c.4787T>A (p.Val1596Glu)	not provided [RCV003234418]	uncertain significance	2	229788849	229788849	Human		name
329952867	CV2670210	single nucleotide variant	NM_001348323.3(TRIP12):c.3167A>G (p.Gln1056Arg)	not provided [RCV003233420]	uncertain significance	2	229802291	229802291	Human		name
329954995	CV2670930	single nucleotide variant	NM_001348323.3(TRIP12):c.4833A>T (p.Lys1611Asn)	not provided [RCV003236198]	uncertain significance	2	229788803	229788803	Human		name
401764933	CV2701578	single nucleotide variant	NM_001348323.3(TRIP12):c.5296G>A (p.Ala1766Thr)	Inborn genetic diseases [RCV003282056]	uncertain significance	2	229778501	229778501	Human	1	name
401783065	CV2703757	single nucleotide variant	NM_001348323.3(TRIP12):c.4048G>C (p.Asp1350His)	Inborn genetic diseases [RCV003266092]	uncertain significance	2	229793066	229793066	Human	1	name
401749230	CV2708511	single nucleotide variant	NM_001348323.3(TRIP12):c.4734T>G (p.Phe1578Leu)	Inborn genetic diseases [RCV003294837]	uncertain significance	2	229788902	229788902	Human	1	name
401798755	CV2739467	single nucleotide variant	NM_001348323.3(TRIP12):c.3809C>T (p.Ser1270Phe)	not provided [RCV003319115]	uncertain significance	2	229796598	229796598	Human		name
401796229	CV2740435	single nucleotide variant	NM_001348323.3(TRIP12):c.5410C>A (p.Gln1804Lys)	not provided [RCV003321105]	uncertain significance	2	229777434	229777434	Human		name
401830246	CV2747972	single nucleotide variant	NM_001348323.3(TRIP12):c.5188G>A (p.Val1730Ile)	not provided [RCV003329579]	uncertain significance	2	229778897	229778897	Human		name
401880328	CV2783172	single nucleotide variant	NM_001348323.3(TRIP12):c.3650T>C (p.Val1217Ala)	Inborn genetic diseases [RCV003384962]	likely benign	2	229796757	229796757	Human	1	name
401875436	CV2792011	single nucleotide variant	NM_001348323.3(TRIP12):c.6007G>A (p.Gly2003Arg)	Inborn genetic diseases [RCV003362647]	uncertain significance	2	229768616	229768616	Human	1	name
401859330	CV2794294	single nucleotide variant	NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)	Clark-Baraitser syndrome [RCV003384299]	likely pathogenic	2	229785821	229785821	Human	1	name
401915761	CV2795343	single nucleotide variant	NM_001348323.3(TRIP12):c.6129T>G (p.Tyr2043Ter)	Neurodevelopmental disorder [RCV003389178]	likely pathogenic	2	229767629	229767629	Human	1	name
401902905	CV2797669	single nucleotide variant	NM_001348323.3(TRIP12):c.4922T>C (p.Leu1641Pro)	TRIP12-related disorder [RCV003419168]	uncertain significance	2	229787578	229787578	Human		name , trait , alternate_id
401909358	CV2801412	single nucleotide variant	NM_001348323.3(TRIP12):c.4434G>C (p.Glu1478Asp)	TRIP12-related disorder [RCV003397867]	uncertain significance	2	229791233	229791233	Human		name , trait , alternate_id
401902526	CV2802108	single nucleotide variant	NM_001348323.3(TRIP12):c.4163A>G (p.Asp1388Gly)	TRIP12-related disorder [RCV003418917]	uncertain significance	2	229792205	229792205	Human		name , trait , alternate_id
401919490	CV2819012	single nucleotide variant	NM_001348323.3(TRIP12):c.4177G>A (p.Asp1393Asn)	not provided [RCV003431162]	uncertain significance	2	229792191	229792191	Human		name
401919492	CV2819014	single nucleotide variant	NM_001348323.3(TRIP12):c.3617A>G (p.Asn1206Ser)	not provided [RCV003431163]	uncertain significance	2	229797697	229797697	Human		name
401930316	CV2819015	single nucleotide variant	NM_001348323.3(TRIP12):c.3532C>T (p.Arg1178Cys)	not provided [RCV003440217]	likely benign	2	229797782	229797782	Human		name
401919493	CV2819016	single nucleotide variant	NM_001348323.3(TRIP12):c.3475A>C (p.Asn1159His)	not provided [RCV003431164]	uncertain significance	2	229798882	229798882	Human		name
401917146	CV2829687	single nucleotide variant	NM_001348323.3(TRIP12):c.3833C>T (p.Pro1278Leu)	not provided [RCV003443731]	uncertain significance	2	229795314	229795314	Human		name
401917545	CV2829905	single nucleotide variant	NM_001348323.3(TRIP12):c.6016A>G (p.Ser2006Gly)	not provided [RCV003443949]	uncertain significance	2	229767742	229767742	Human		name
401917577	CV2829914	single nucleotide variant	NM_001348323.3(TRIP12):c.3655A>G (p.Ile1219Val)	not provided [RCV003443958]	uncertain significance	2	229796752	229796752	Human		name
401946386	CV2839721	single nucleotide variant	NM_001348323.3(TRIP12):c.4108G>A (p.Val1370Ile)	Clark-Baraitser syndrome [RCV003459007]	uncertain significance	2	229793006	229793006	Human	1	name
405076255	CV3081168	single nucleotide variant	NM_001348323.3(TRIP12):c.3035A>C (p.Glu1012Ala)	Developmental disorder [RCV003764462]	likely benign	2	229802423	229802423	Human	1	name
405004062	CV3184532	single nucleotide variant	NM_001348323.3(TRIP12):c.4861A>C (p.Thr1621Pro)	Clark-Baraitser syndrome [RCV003883321]	uncertain significance	2	229787639	229787639	Human	1	name
405267760	CV3186904	single nucleotide variant	NM_001348323.3(TRIP12):c.4223A>C (p.Gln1408Pro)	not provided [RCV003886987]	uncertain significance	2	229792058	229792058	Human		name
405264504	CV3190024	single nucleotide variant	NM_001348323.3(TRIP12):c.6141G>C (p.Glu2047Asp)	Inborn genetic diseases [RCV005291078]\|TRIP12-related disorder [RCV003897063]	likely benign\|uncertain significance	2	229767617	229767617	Human	2	name , trait , alternate_id
405280106	CV3200316	single nucleotide variant	NM_001348323.3(TRIP12):c.6153A>T (p.Glu2051Asp)	TRIP12-related disorder [RCV003977213]	likely benign	2	229767605	229767605	Human		name , trait , alternate_id
405281533	CV3224192	single nucleotide variant	NM_001348323.3(TRIP12):c.6134G>C (p.Ser2045Thr)	not specified [RCV003988574]	uncertain significance	2	229767624	229767624	Human		name
405744568	CV3226131	single nucleotide variant	NM_001348323.3(TRIP12):c.5114C>T (p.Pro1705Leu)	Clark-Baraitser syndrome [RCV003991122]	likely pathogenic	2	229778971	229778971	Human	1	name
405797852	CV3347396	single nucleotide variant	NM_001348323.3(TRIP12):c.3125C>T (p.Ala1042Val)	Inborn genetic diseases [RCV004476321]	uncertain significance	2	229802333	229802333	Human	1	name
405797855	CV3347397	single nucleotide variant	NM_001348323.3(TRIP12):c.3215G>A (p.Ser1072Asn)	Inborn genetic diseases [RCV004476322]	uncertain significance	2	229799375	229799375	Human	1	name
405797858	CV3347398	single nucleotide variant	NM_001348323.3(TRIP12):c.3241C>T (p.Pro1081Ser)	Inborn genetic diseases [RCV004476323]\|not provided [RCV004723593]	uncertain significance	2	229799349	229799349	Human	1	name
405797861	CV3347399	single nucleotide variant	NM_001348323.3(TRIP12):c.3530A>G (p.Glu1177Gly)	Inborn genetic diseases [RCV004476324]	likely benign	2	229797784	229797784	Human	1	name
405797864	CV3347400	single nucleotide variant	NM_001348323.3(TRIP12):c.3637G>T (p.Ala1213Ser)	Inborn genetic diseases [RCV004476325]	uncertain significance	2	229796770	229796770	Human	1	name
405853675	CV3395110	single nucleotide variant	NM_001348323.3(TRIP12):c.5231A>G (p.Tyr1744Cys)	Clark-Baraitser syndrome [RCV004555252]	uncertain significance	2	229778566	229778566	Human	1	name
405852350	CV3395943	single nucleotide variant	NM_001348323.3(TRIP12):c.5884C>T (p.His1962Tyr)	Clark-Baraitser syndrome [RCV004556962]	uncertain significance	2	229769250	229769250	Human	1	name
405873215	CV3398459	single nucleotide variant	NM_001348323.3(TRIP12):c.5407C>T (p.Arg1803Trp)	not provided [RCV004575955]	uncertain significance	2	229777437	229777437	Human		name
407426021	CV3409710	single nucleotide variant	NM_001348323.3(TRIP12):c.3857G>C (p.Gly1286Ala)	not provided [RCV004585642]	uncertain significance	2	229795290	229795290	Human		name
407425381	CV3411224	single nucleotide variant	NM_001348323.3(TRIP12):c.4936G>A (p.Glu1646Lys)	not provided [RCV004588915]	likely pathogenic	2	229787564	229787564	Human		name
407427967	CV3412289	single nucleotide variant	NM_001348323.3(TRIP12):c.4996C>T (p.Arg1666Cys)	not provided [RCV004592460]	uncertain significance	2	229785855	229785855	Human		name
407461648	CV3490800	single nucleotide variant	NM_001348323.3(TRIP12):c.3812C>A (p.Ser1271Tyr)	Inborn genetic diseases [RCV004687703]\|not provided [RCV005242575]	likely benign	2	229796595	229796595	Human	1	name
407454216	CV3490801	single nucleotide variant	NM_001348323.3(TRIP12):c.3964G>A (p.Gly1322Ser)	Inborn genetic diseases [RCV004684910]	uncertain significance	2	229795183	229795183	Human	1	name
407454218	CV3490804	single nucleotide variant	NM_001348323.3(TRIP12):c.3041T>C (p.Leu1014Ser)	Inborn genetic diseases [RCV004684912]	uncertain significance	2	229802417	229802417	Human	1	name
407454220	CV3490806	single nucleotide variant	NM_001348323.3(TRIP12):c.4957C>G (p.Gln1653Glu)	Inborn genetic diseases [RCV004684914]	uncertain significance	2	229787543	229787543	Human	1	name
407574587	CV3499598	single nucleotide variant	NM_001348323.3(TRIP12):c.4589T>G (p.Ile1530Ser)	not provided [RCV004719594]	uncertain significance	2	229789717	229789717	Human		name
408367553	CV3500182	single nucleotide variant	NM_001348323.3(TRIP12):c.3247C>T (p.Arg1083Ter)	not provided [RCV004722225]	pathogenic	2	229799343	229799343	Human		name
408381191	CV3501423	single nucleotide variant	NM_001348323.3(TRIP12):c.3980A>C (p.Asn1327Thr)	not provided [RCV004727512]	uncertain significance	2	229793134	229793134	Human		name
408373006	CV3502173	single nucleotide variant	NM_001348323.3(TRIP12):c.5734C>G (p.Gln1912Glu)	not provided [RCV004725760]	uncertain significance	2	229771593	229771593	Human		name
408384791	CV3503578	single nucleotide variant	NM_001348323.3(TRIP12):c.5432A>G (p.His1811Arg)	TRIP12-related disorder [RCV004732114]	uncertain significance	2	229777412	229777412	Human		name , trait , alternate_id
408383549	CV3504031	single nucleotide variant	NM_001348323.3(TRIP12):c.5068A>G (p.Met1690Val)	TRIP12-related disorder [RCV004730662]	uncertain significance	2	229785783	229785783	Human		name , trait , alternate_id
408384525	CV3504222	deletion	NM_001348323.3(TRIP12):c.121_128del (p.His41fs)	TRIP12-related disorder [RCV004731884]	likely pathogenic	2	229860502	229860509	Human		name , trait , alternate_id
408379924	CV3507264	single nucleotide variant	NM_001348323.3(TRIP12):c.5350A>C (p.Met1784Leu)	TRIP12-related disorder [RCV004753756]	uncertain significance	2	229778447	229778447	Human		name , trait , alternate_id
408387216	CV3518754	single nucleotide variant	NM_001348323.3(TRIP12):c.4724C>T (p.Thr1575Ile)	not provided [RCV004761073]	uncertain significance	2	229788912	229788912	Human		name
408387638	CV3518922	single nucleotide variant	NM_001348323.3(TRIP12):c.6188C>T (p.Ser2063Leu)	not provided [RCV004761241]	uncertain significance	2	229767570	229767570	Human		name
408388271	CV3520713	single nucleotide variant	NM_001348323.3(TRIP12):c.5042T>C (p.Met1681Thr)	not provided [RCV004761546]	uncertain significance	2	229785809	229785809	Human		name
408391440	CV3521072	single nucleotide variant	NM_001348323.3(TRIP12):c.4856T>C (p.Phe1619Ser)	not provided [RCV004762894]	uncertain significance	2	229787644	229787644	Human		name
408388303	CV3522618	single nucleotide variant	NM_001348323.3(TRIP12):c.5742T>G (p.Asp1914Glu)	not provided [RCV004768999]	uncertain significance	2	229771585	229771585	Human		name
408380668	CV3523624	single nucleotide variant	NM_001348323.3(TRIP12):c.3664A>G (p.Ile1222Val)	not provided [RCV004766022]	uncertain significance	2	229796743	229796743	Human		name
408392313	CV3525201	single nucleotide variant	NM_001348323.3(TRIP12):c.4138A>G (p.Arg1380Gly)	not provided [RCV004771087]	uncertain significance	2	229792976	229792976	Human		name
408392445	CV3525238	single nucleotide variant	NM_001348323.3(TRIP12):c.3098C>T (p.Thr1033Ile)	not provided [RCV004771124]	uncertain significance	2	229802360	229802360	Human		name
408392113	CV3526481	single nucleotide variant	NM_001348323.3(TRIP12):c.3554T>C (p.Met1185Thr)	not provided [RCV004775730]	uncertain significance	2	229797760	229797760	Human		name
408391252	CV3527938	single nucleotide variant	NM_001348323.3(TRIP12):c.4753G>T (p.Ala1585Ser)	not provided [RCV004775210]	uncertain significance	2	229788883	229788883	Human		name
408393427	CV3528467	single nucleotide variant	NM_001348323.3(TRIP12):c.3463G>A (p.Asp1155Asn)	not provided [RCV004776235]	uncertain significance	2	229798894	229798894	Human		name
408389269	CV3529302	single nucleotide variant	NM_001348323.3(TRIP12):c.3160A>T (p.Ser1054Cys)	not provided [RCV004774124]	uncertain significance	2	229802298	229802298	Human		name
408389292	CV3529314	single nucleotide variant	NM_001348323.3(TRIP12):c.4723A>G (p.Thr1575Ala)	not provided [RCV004774136]	uncertain significance	2	229788913	229788913	Human		name
596930118	CV3531368	single nucleotide variant	NM_001348323.3(TRIP12):c.3379A>G (p.Arg1127Gly)	not provided [RCV004779942]	uncertain significance	2	229798978	229798978	Human		name
596927386	CV3532578	single nucleotide variant	NM_001348323.3(TRIP12):c.5422C>G (p.Leu1808Val)	not provided [RCV004778676]	uncertain significance	2	229777422	229777422	Human		name
596927767	CV3532688	single nucleotide variant	NM_001348323.3(TRIP12):c.4123A>G (p.Arg1375Gly)	not provided [RCV004778786]	uncertain significance	2	229792991	229792991	Human		name
596921139	CV3534756	single nucleotide variant	NM_001348323.3(TRIP12):c.4418A>G (p.Tyr1473Cys)	not provided [RCV004784313]	uncertain significance	2	229791249	229791249	Human		name
596921581	CV3535203	single nucleotide variant	NM_001348323.3(TRIP12):c.5729C>G (p.Ser1910Cys)	not provided [RCV004784762]	uncertain significance	2	229771598	229771598	Human		name
596929096	CV3540796	single nucleotide variant	NM_001348323.3(TRIP12):c.3479A>C (p.Asn1160Thr)	not provided [RCV004795125]	uncertain significance	2	229798878	229798878	Human		name
596939060	CV3549972	single nucleotide variant	NM_001348323.3(TRIP12):c.3136G>A (p.Ala1046Thr)	not provided [RCV004813013]	uncertain significance	2	229802322	229802322	Human		name
597652001	CV3552056	single nucleotide variant	NM_001348323.3(TRIP12):c.3409A>C (p.Ile1137Leu)	not provided [RCV004820769]	uncertain significance	2	229798948	229798948	Human		name
597625288	CV3614717	single nucleotide variant	NM_001348323.3(TRIP12):c.3008A>G (p.His1003Arg)	Inborn genetic diseases [RCV004964472]	uncertain significance	2	229802450	229802450	Human	1	name
597625291	CV3614720	single nucleotide variant	NM_001348323.3(TRIP12):c.3760G>A (p.Ala1254Thr)	Inborn genetic diseases [RCV004964475]	uncertain significance	2	229796647	229796647	Human	1	name
597625294	CV3614722	single nucleotide variant	NM_001348323.3(TRIP12):c.3619C>T (p.Leu1207Phe)	Inborn genetic diseases [RCV004964477]	uncertain significance	2	229797695	229797695	Human	1	name
597625296	CV3614723	single nucleotide variant	NM_001348323.3(TRIP12):c.5075A>C (p.Glu1692Ala)	Inborn genetic diseases [RCV004964478]	uncertain significance	2	229785776	229785776	Human	1	name
597625298	CV3614724	single nucleotide variant	NM_001348323.3(TRIP12):c.5482G>A (p.Glu1828Lys)	Inborn genetic diseases [RCV004964479]	uncertain significance	2	229777362	229777362	Human	1	name
597625301	CV3614726	single nucleotide variant	NM_001348323.3(TRIP12):c.5470G>A (p.Val1824Ile)	Inborn genetic diseases [RCV004964481]	uncertain significance	2	229777374	229777374	Human	1	name
597625303	CV3614727	single nucleotide variant	NM_001348323.3(TRIP12):c.3361A>T (p.Asn1121Tyr)	Inborn genetic diseases [RCV004964482]	uncertain significance	2	229798996	229798996	Human	1	name
597625305	CV3614728	single nucleotide variant	NM_001348323.3(TRIP12):c.3219T>A (p.Asp1073Glu)	Inborn genetic diseases [RCV004964483]	uncertain significance	2	229799371	229799371	Human	1	name
597625306	CV3614729	single nucleotide variant	NM_001348323.3(TRIP12):c.4714A>G (p.Ile1572Val)	Inborn genetic diseases [RCV004964484]	uncertain significance	2	229788922	229788922	Human	1	name
597716395	CV3733262	single nucleotide variant	NM_001348323.3(TRIP12):c.3764T>G (p.Val1255Gly)	not provided [RCV005052452]	uncertain significance	2	229796643	229796643	Human		name
597843527	CV3735932	single nucleotide variant	NM_001348323.3(TRIP12):c.4466G>A (p.Gly1489Asp)	not provided [RCV005065281]	uncertain significance	2	229791201	229791201	Human		name
598125538	CV3881681	single nucleotide variant	NM_001348323.3(TRIP12):c.3014T>G (p.Val1005Gly)	Clark-Baraitser syndrome [RCV005232584]	uncertain significance	2	229802444	229802444	Human	1	name
598126477	CV3881930	single nucleotide variant	NM_001348323.3(TRIP12):c.5054G>C (p.Gly1685Ala)	not provided [RCV005233482]	uncertain significance	2	229785797	229785797	Human		name
598126638	CV3882093	single nucleotide variant	NM_001348323.3(TRIP12):c.5702T>G (p.Ile1901Arg)	not provided [RCV005233644]	uncertain significance	2	229771625	229771625	Human		name
598129466	CV3888765	single nucleotide variant	NM_001348323.3(TRIP12):c.5465G>A (p.Arg1822Lys)	not provided [RCV005244939]	uncertain significance	2	229777379	229777379	Human		name
598227536	CV3894519	single nucleotide variant	NM_001348323.3(TRIP12):c.3192T>G (p.Asp1064Glu)	not provided [RCV005257762]	uncertain significance	2	229802266	229802266	Human		name
598236157	CV3931891	single nucleotide variant	NM_001348323.3(TRIP12):c.3953A>G (p.Asn1318Ser)	Inborn genetic diseases [RCV005295973]	uncertain significance	2	229795194	229795194	Human	1	name
598214488	CV3931892	single nucleotide variant	NM_001348323.3(TRIP12):c.6068A>T (p.Asn2023Ile)	Inborn genetic diseases [RCV005292541]	uncertain significance	2	229767690	229767690	Human	1	name
598214491	CV3931894	single nucleotide variant	NM_001348323.3(TRIP12):c.3397A>G (p.Asn1133Asp)	Inborn genetic diseases [RCV005292542]	uncertain significance	2	229798960	229798960	Human	1	name
617154130	CV4022293	single nucleotide variant	NM_001348323.3(TRIP12):c.4079G>A (p.Gly1360Glu)	not provided [RCV005429649]	uncertain significance	2	229793035	229793035	Human		name
13463054	CV439485	single nucleotide variant	NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln)	Clark-Baraitser syndrome [RCV000515140]	pathogenic	2	229785842	229785842	Human	1	name
13509041	CV481644	single nucleotide variant	NM_001348323.3(TRIP12):c.4036C>T (p.Gln1346Ter)	not provided [RCV000578832]	pathogenic	2	229793078	229793078	Human		name
14395641	CV611381	single nucleotide variant	NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)	Clark-Baraitser syndrome [RCV000760205]\|not provided [RCV005367537]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	229771526	229771526	Human	1	name
14395620	CV611382	single nucleotide variant	NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter)	Clark-Baraitser syndrome [RCV000760182]	pathogenic	2	229791963	229791963	Human	1	name
21071106	CV790205	single nucleotide variant	NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala)	Clark-Baraitser syndrome [RCV000987050]	uncertain significance	2	229767724	229767724	Human	1	name
21071108	CV790206	single nucleotide variant	NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)	Clark-Baraitser syndrome [RCV000987051]	likely pathogenic	2	229787514	229787514	Human	1	name
21071109	CV790207	single nucleotide variant	NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter)	Clark-Baraitser syndrome [RCV000987052]	pathogenic	2	229802292	229802292	Human	1	name
21404651	CV801062	single nucleotide variant	NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)	Intellectual disability [RCV001003578]\|not provided [RCV001268857]	pathogenic\|likely pathogenic	2	229787597	229787597	Human	2	name
25317343	CV805294	single nucleotide variant	NM_001348323.3(TRIP12):c.3916C>T (p.Gln1306Ter)	not provided [RCV001007989]	pathogenic	2	229795231	229795231	Human		name
25318559	CV805296	single nucleotide variant	NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter)	Clark-Baraitser syndrome [RCV001078142]\|not provided [RCV001008698]	pathogenic\|likely pathogenic	2	229799382	229799382	Human	1	name
38597709	CV964196	single nucleotide variant	NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter)	Clark-Baraitser syndrome [RCV001253031]	uncertain significance	2	229767574	229767574	Human	1	name
38597670	CV964197	single nucleotide variant	NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp)	Clark-Baraitser syndrome [RCV001252975]	uncertain significance	2	229796633	229796633	Human	1	name
40814603	CV969470	single nucleotide variant	NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter)	Intellectual disability [RCV001260846]	likely pathogenic	2	229797728	229797728	Human	2	name
40886379	CV972712	single nucleotide variant	NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)	Clark-Baraitser syndrome [RCV001264741]\|not provided [RCV005051878]	pathogenic\|likely pathogenic\|uncertain significance	2	229767636	229767636	Human	1	name
40889318	CV975032	single nucleotide variant	NM_001348323.3(TRIP12):c.6181C>T (p.Gln2061Ter)	not provided [RCV001267951]	likely pathogenic	2	229767577	229767577	Human		name
40889706	CV975033	single nucleotide variant	NM_001348323.3(TRIP12):c.3500G>A (p.Trp1167Ter)	not provided [RCV001268140]	pathogenic	2	229797814	229797814	Human		name
401921777	CV2799957	duplication	NM_001348323.3(TRIP12):c.694_698dup (p.Thr234fs)	TRIP12-related disorder [RCV003403066]	likely pathogenic	2	229859100	229859101	Human		name , trait , alternate_id
405281166	CV3223941	microsatellite	NM_001348323.3(TRIP12):c.638_639del (p.Arg213fs)	Clark-Baraitser syndrome [RCV003988320]	pathogenic	2	229859160	229859161	Human		name
13463042	CV439483	microsatellite	NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)	Clark-Baraitser syndrome [RCV000515143]\|not provided [RCV005421963]	pathogenic	2	229859212	229859213	Human		name
150454735	CV1232328	insertion	NM_001348323.3(TRIP12):c.5904-138_5904-137insATTTG	not provided [RCV001648341]	benign	2	229768856	229768857	Human		name
156435054	CV2403332	microsatellite	NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)	Clark-Baraitser syndrome [RCV003127268]	likely pathogenic	2	229789659	229789661	Human		name
243051340	CV2415830	deletion	NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)	Clark-Baraitser syndrome [RCV003148446]	likely pathogenic	2	229805751	229805755	Human	1	name
401829007	CV2668598	deletion	NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs)	Clark-Baraitser syndrome [RCV003326690]	likely pathogenic	2	229804193	229804199	Human	1	name
401722401	CV2737676	microsatellite	NM_001348323.3(TRIP12):c.4158AGA[1] (p.Glu1387del)	not provided [RCV003314848]	uncertain significance	2	229792205	229792207	Human		name
401918615	CV2794598	deletion	NM_001348323.3(TRIP12):c.1787_1800del (p.Met596fs)	Clark-Baraitser syndrome [RCV003388276]	pathogenic	2	229814257	229814270	Human	1	name
408391790	CV3523412	microsatellite	NM_001348323.3(TRIP12):c.3341CTT[1] (p.Ser1115del)	not provided [RCV004770786]	uncertain significance	2	229799011	229799013	Human		name
25319281	CV805297	deletion	NM_001348323.3(TRIP12):c.1782_1806del (p.Glu595fs)	not provided [RCV001008952]	pathogenic	2	229814251	229814275	Human		name
126909072	CV1053067	insertion	NM_001348323.3(TRIP12):c.2118_2119insT (p.Thr707fs)	Neurodevelopmental disorder [RCV001374934]	pathogenic	2	229810982	229810983	Human	1	name
127230392	CV1087031	deletion	NM_001348323.3(TRIP12):c.4646_4668del (p.Leu1549fs)	See cases [RCV001420294]	pathogenic	2	229789638	229789660	Human		name
151233799	CV1153014	insertion	NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs)	Clark-Baraitser syndrome [RCV001788535]	pathogenic	2	229807825	229807826	Human	1	name
153348493	CV1692530	microsatellite	NM_001348323.3(TRIP12):c.4302_4303del (p.Tyr1435fs)	Neurodevelopmental delay [RCV002274384]\|not provided [RCV003325317]	pathogenic\|likely pathogenic	2	229791978	229791979	Human		name
401721034	CV2737409	duplication	NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter)	Clark-Baraitser syndrome [RCV003314348]	likely pathogenic	2	229804110	229804111	Human	1	name
405291391	CV3222372	deletion	NM_001348323.3(TRIP12):c.3088_3089del (p.Gly1030fs)	Clark-Baraitser syndrome [RCV003985679]	not provided	2	229802369	229802370	Human		name
596924966	CV3541750	deletion	NM_001348323.3(TRIP12):c.5538_5566del (p.Glu1846fs)	Clark-Baraitser syndrome [RCV004795461]	pathogenic	2	229774225	229774253	Human	1	name
13530178	CV511401	deletion	NM_001348323.3(TRIP12):c.5191_5194del (p.Thr1731fs)	Inborn genetic diseases [RCV000622295]	pathogenic	2	229778891	229778894	Human	1	name
13532691	CV511402	microsatellite	NM_001348323.3(TRIP12):c.3984_3985del (p.Gly1329fs)	Inborn genetic diseases [RCV000624442]	pathogenic	2	229793129	229793130	Human		name
40814546	CV969469	microsatellite	NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs)	Intellectual disability [RCV001260790]	likely pathogenic	2	229793060	229793061	Human		name
155643913	CV1708226	duplication	NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)	Clark-Baraitser syndrome [RCV002290215]	likely pathogenic	2	229767648	229767649	Human	1	name
401875730	CV2750084	indel	NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)	Clark-Baraitser syndrome [RCV003333501]	uncertain significance	2	229767630	229767632	Human		name
150541088	CV1297566	deletion	NM_001348323.3(TRIP12):c.1279_1284del (p.Ser427_Val428del)	not provided [RCV001767250]	uncertain significance	2	229830826	229830831	Human		name
401797729	CV2741077	deletion	NM_001348323.3(TRIP12):c.4290del (p.Pro1429_Tyr1430insTer)	not provided [RCV003322241]	likely pathogenic	2	229791991	229791991	Human		name
13463071	CV439486	deletion	NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer)	Clark-Baraitser syndrome [RCV000515144]\|not provided [RCV001731740]	pathogenic	2	229796735	229796736	Human	1	name
151349856	CV1325481	indel	NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)	Clark-Baraitser syndrome [RCV001814767]	likely pathogenic	2	229778521	229778538	Human		name
597668499	CV3732779	duplication	NM_001348323.3(TRIP12):c.3078_3083dup (p.Ser1028_Met1029insGlySer)	not provided [RCV005004611]	uncertain significance	2	229802374	229802375	Human		name
156171224	CV2247433	indel	NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)	Inborn genetic diseases [RCV002788068]	pathogenic	2	229768715	229768718	Human		name
156371913	CV2048980	indel	NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)	Clark-Baraitser syndrome [RCV002814352]	pathogenic	2	229777391	229777392	Human		name

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