Tmpo Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

824 records found for search term Tmpo

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11608204	CV318749	single nucleotide variant	NM_003276.2(TMPO):c.*15A>T	Dilated Cardiomyopathy, Dominant [RCV000352397]	uncertain significance	12	98534357	98534357	Human		name
11603335	CV318752	deletion	NM_003276.2(TMPO):c.*42del	Dilated Cardiomyopathy, Dominant [RCV000298814]	uncertain significance	12	98534384	98534384	Human		name
11660526	CV333211	single nucleotide variant	NM_003276.2(TMPO):c.-68G>A	Dilated Cardiomyopathy, Dominant [RCV000367764]	uncertain significance	12	98515800	98515800	Human		name
11653946	CV333232	deletion	NM_003276.2(TMPO):c.*18del	Dilated Cardiomyopathy, Dominant [RCV000313944]	uncertain significance	12	98534356	98534356	Human		name
11614279	CV334939	single nucleotide variant	NM_003276.2(TMPO):c.-58C>T	Dilated Cardiomyopathy, Dominant [RCV000275633]	uncertain significance	12	98515810	98515810	Human		name
11620115	CV334942	single nucleotide variant	NM_003276.2(TMPO):c.-52C>T	Dilated Cardiomyopathy, Dominant [RCV000333060]	uncertain significance	12	98515816	98515816	Human		name
11625383	CV334946	single nucleotide variant	NM_003276.2(TMPO):c.*39G>C	Dilated Cardiomyopathy, Dominant [RCV000397908]	uncertain significance	12	98534381	98534381	Human		name
11646515	CV318740	single nucleotide variant	NM_003276.2(TMPO):c.-234T>C	Dilated Cardiomyopathy, Dominant [RCV000271082]	uncertain significance	12	98515634	98515634	Human		name
11600426	CV318755	single nucleotide variant	NM_003276.2(TMPO):c.*281C>T	Dilated Cardiomyopathy, Dominant [RCV000273665]	uncertain significance	12	98534623	98534623	Human		name
11660181	CV318756	single nucleotide variant	NM_003276.2(TMPO):c.*354C>T	Dilated Cardiomyopathy, Dominant [RCV000364632]	uncertain significance	12	98534696	98534696	Human		name
11605597	CV318757	single nucleotide variant	NM_003276.2(TMPO):c.*524A>G	Dilated Cardiomyopathy, Dominant [RCV000321535]	likely benign	12	98534866	98534866	Human		name
11648367	CV318768	single nucleotide variant	NM_003276.2(TMPO):c.*538C>G	Dilated Cardiomyopathy, Dominant [RCV000281390]	uncertain significance	12	98534880	98534880	Human		name
11606836	CV318771	single nucleotide variant	NM_003276.2(TMPO):c.*682T>A	Dilated Cardiomyopathy, Dominant [RCV000336508]	uncertain significance	12	98535024	98535024	Human		name
11622689	CV327097	single nucleotide variant	NM_003276.2(TMPO):c.-255C>A	Dilated Cardiomyopathy, Dominant [RCV000363255]	uncertain significance	12	98515613	98515613	Human		name
11618060	CV327119	single nucleotide variant	NM_003276.2(TMPO):c.*332G>A	Dilated Cardiomyopathy, Dominant [RCV000310030]	uncertain significance	12	98534674	98534674	Human		name
11613638	CV327123	single nucleotide variant	NM_003276.2(TMPO):c.*356C>T	Dilated Cardiomyopathy, Dominant [RCV000270013]	likely benign	12	98534698	98534698	Human		name
11623426	CV327124	single nucleotide variant	NM_003276.2(TMPO):c.*985G>A	Dilated Cardiomyopathy, Dominant [RCV000372505]	uncertain significance	12	98535327	98535327	Human		name
11619408	CV334948	single nucleotide variant	NM_003276.2(TMPO):c.*427T>C	Dilated Cardiomyopathy, Dominant [RCV000325079]	uncertain significance	12	98534769	98534769	Human		name
11623973	CV334953	single nucleotide variant	NM_003276.2(TMPO):c.*446C>T	Dilated Cardiomyopathy, Dominant [RCV000379615]	uncertain significance	12	98534788	98534788	Human		name
11645631	CV334954	single nucleotide variant	NM_003276.2(TMPO):c.*447G>A	Dilated Cardiomyopathy, Dominant [RCV000266330]	uncertain significance	12	98534789	98534789	Human		name
11623709	CV334955	single nucleotide variant	NM_003276.2(TMPO):c.*526A>G	Dilated Cardiomyopathy, Dominant [RCV000376117]	likely benign	12	98534868	98534868	Human		name
11616704	CV334956	single nucleotide variant	NM_003276.2(TMPO):c.*994A>G	Dilated Cardiomyopathy, Dominant [RCV000296545]	likely benign	12	98535336	98535336	Human		name
14746206	CV667278	single nucleotide variant	NM_003276.2(TMPO):c.-439C>T	not provided [RCV000844194]	benign	12	98515429	98515429	Human		name
150421721	CV1181078	single nucleotide variant	NM_001032283.3(TMPO):c.*7T>C	not provided [RCV001552144]	likely benign	12	98547865	98547865	Human		name
9688509	CV175902	single nucleotide variant	NM_001032283.3(TMPO):c.*1A>G	TMPO-related disorder [RCV003935277]\|not provided [RCV001610460]\|not specified [RCV000152059]	benign\|likely benign	12	98547859	98547859	Human		name , trait , alternate_id
155747770	CV1849770	single nucleotide variant	NM_001032283.3(TMPO):c.-1G>C	not specified [RCV004059457]	uncertain significance	12	98515867	98515867	Human		name
401740863	CV2738764	single nucleotide variant	NM_001032283.3(TMPO):c.-2A>T	not provided [RCV003318158]	uncertain significance	12	98515866	98515866	Human		name
13541195	CV504123	single nucleotide variant	NM_001032283.3(TMPO):c.-11A>C	not provided [RCV001719120]\|not specified [RCV000615817]	benign\|likely benign	12	98515857	98515857	Human		name
150416067	CV1191487	single nucleotide variant	NM_001032283.3(TMPO):c.*115A>C	not provided [RCV001568271]	likely benign	12	98547973	98547973	Human		name
150417314	CV1198442	single nucleotide variant	NM_001032283.3(TMPO):c.*105C>T	not provided [RCV001576243]	likely benign	12	98547963	98547963	Human		name
11655943	CV333209	single nucleotide variant	NM_001032283.3(TMPO):c.-126A>T	Dilated Cardiomyopathy, Dominant [RCV000329430]	uncertain significance	12	98515742	98515742	Human	1	name
127309437	CV1143916	single nucleotide variant	NM_001032283.3(TMPO):c.565+8T>C	Loeys-Dietz syndrome 2 [RCV001480855]	likely benign	12	98531846	98531846	Human	1	name
127311702	CV1157082	single nucleotide variant	NM_001032283.3(TMPO):c.280-9T>C	Loeys-Dietz syndrome 2 [RCV001518704]	benign	12	98527877	98527877	Human	1	name
150539144	CV1299996	single nucleotide variant	NM_001032283.3(TMPO):c.280-3C>T	not provided [RCV001765466]	uncertain significance	12	98527883	98527883	Human		name
151752321	CV1397962	single nucleotide variant	NM_001032283.3(TMPO):c.279+4A>C	Loeys-Dietz syndrome 2 [RCV001969314]	uncertain significance	12	98516150	98516150	Human	1	name
155981989	CV1883178	single nucleotide variant	NM_001032283.3(TMPO):c.407-4C>T	Loeys-Dietz syndrome 2 [RCV003075704]	likely benign	12	98531676	98531676	Human	1	name
155954687	CV1915291	single nucleotide variant	NM_001032283.3(TMPO):c.280-4A>G	Loeys-Dietz syndrome 2 [RCV002616410]	likely benign	12	98527882	98527882	Human	1	name
405067898	CV3148988	single nucleotide variant	NM_001032283.3(TMPO):c.565+9T>G	Loeys-Dietz syndrome 2 [RCV003850750]	likely benign	12	98531847	98531847	Human	1	name
13534052	CV512859	single nucleotide variant	NM_001032283.3(TMPO):c.280-8G>A	Dilated cardiomyopathy 1T [RCV000625186]\|Loeys-Dietz syndrome 2 [RCV001453302]\|not provided [RCV001724102]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	98527878	98527878	Human	2	name
8606517	CV52864	single nucleotide variant	NM_001032283.3(TMPO):c.991-4T>C	not provided [RCV001682727]\|not specified [RCV000036645]	benign	12	98546355	98546355	Human		name
150416413	CV1181077	duplication	NM_001032283.3(TMPO):c.990+67dup	not provided [RCV001549616]	likely benign	12	98545125	98545126	Human		name
150417999	CV1198441	single nucleotide variant	NM_001032283.3(TMPO):c.990+74T>G	not provided [RCV001576550]	likely benign	12	98545135	98545135	Human		name
150449763	CV1215152	deletion	NM_001032283.3(TMPO):c.990+86del	not provided [RCV001611742]	benign	12	98545130	98545130	Human		name
150465604	CV1240269	duplication	NM_001032283.3(TMPO):c.990+86dup	not provided [RCV001650030]	benign	12	98545129	98545130	Human		name
150534874	CV1311665	single nucleotide variant	NM_001032283.3(TMPO):c.279+19G>A	not specified [RCV001779475]	uncertain significance	12	98516165	98516165	Human		name
151791366	CV1475651	single nucleotide variant	NM_001032283.3(TMPO):c.279+11G>C	Loeys-Dietz syndrome 2 [RCV001973087]	likely benign	12	98516157	98516157	Human	1	name
152061261	CV1557651	duplication	NM_001032283.3(TMPO):c.279+14dup	Loeys-Dietz syndrome 2 [RCV002146803]	likely benign	12	98516156	98516157	Human	1	name
152102634	CV1590886	single nucleotide variant	NM_001032283.3(TMPO):c.279+16C>T	Loeys-Dietz syndrome 2 [RCV002115546]	likely benign	12	98516162	98516162	Human	1	name
9690445	CV175759	single nucleotide variant	NM_001032283.3(TMPO):c.663+13T>G	not specified [RCV000156124]	likely benign	12	98537585	98537585	Human		name
156216468	CV1869362	single nucleotide variant	NM_001032283.3(TMPO):c.280-18A>G	Loeys-Dietz syndrome 2 [RCV003058745]	likely benign	12	98527868	98527868	Human	1	name
156075658	CV2056767	single nucleotide variant	NM_001032283.3(TMPO):c.280-11T>G	Loeys-Dietz syndrome 2 [RCV002823689]	uncertain significance	12	98527875	98527875	Human	1	name
402492448	CV3058740	single nucleotide variant	NM_001032283.3(TMPO):c.280-13A>T	Loeys-Dietz syndrome 2 [RCV003627345]	likely benign	12	98527873	98527873	Human	1	name
402492681	CV3065767	single nucleotide variant	NM_001032283.3(TMPO):c.279+17G>A	Loeys-Dietz syndrome 2 [RCV003627370]	likely benign	12	98516163	98516163	Human	1	name
405117873	CV3116022	single nucleotide variant	NM_001032283.3(TMPO):c.280-13A>G	Loeys-Dietz syndrome 2 [RCV003814512]	likely benign	12	98527873	98527873	Human	1	name
402482667	CV3170894	single nucleotide variant	NM_001032283.3(TMPO):c.565+19T>C	Loeys-Dietz syndrome 2 [RCV003876097]	likely benign	12	98531857	98531857	Human	1	name
597918425	CV3737833	single nucleotide variant	NM_001032283.3(TMPO):c.565+15G>T	Loeys-Dietz syndrome 2 [RCV005074432]	likely benign	12	98531853	98531853	Human	1	name
597974569	CV3831719	single nucleotide variant	NM_001032283.3(TMPO):c.407-17G>C	Loeys-Dietz syndrome 2 [RCV005168658]	likely benign	12	98531663	98531663	Human	1	name
616935391	CV4016026	single nucleotide variant	NM_001032283.3(TMPO):c.1080-4A>G	not provided [RCV005414890]	uncertain significance	12	98547569	98547569	Human		name
8606513	CV52860	duplication	NM_001032283.3(TMPO):c.1079+5dup	not provided [RCV001689587]\|not specified [RCV000036641]	benign	12	98546450	98546451	Human		name
14722718	CV667016	single nucleotide variant	NM_001032283.3(TMPO):c.280-90G>T	not provided [RCV000832222]	benign	12	98527796	98527796	Human		name
14726758	CV667282	single nucleotide variant	NM_001032283.3(TMPO):c.407-96G>C	not provided [RCV000834008]	benign	12	98531584	98531584	Human		name
14718436	CV667284	single nucleotide variant	NM_001032283.3(TMPO):c.565+34G>T	not provided [RCV000830392]	benign	12	98531872	98531872	Human		name
14731225	CV667288	single nucleotide variant	NM_001032283.3(TMPO):c.565+99A>C	not provided [RCV000836024]	likely benign	12	98531937	98531937	Human		name
150333473	CV1172503	single nucleotide variant	NM_001032283.3(TMPO):c.566-289C>T	not provided [RCV001539513]	benign	12	98537186	98537186	Human		name
150415192	CV1177678	single nucleotide variant	NM_001032283.3(TMPO):c.406+304G>A	not provided [RCV001548463]	likely benign	12	98528316	98528316	Human		name
150416303	CV1181076	single nucleotide variant	NM_001032283.3(TMPO):c.565+939C>T	not provided [RCV001549554]	likely benign	12	98532777	98532777	Human		name
150426086	CV1184776	single nucleotide variant	NM_001032283.3(TMPO):c.279+114G>A	not provided [RCV001558890]	likely benign	12	98516260	98516260	Human		name
150428158	CV1188006	single nucleotide variant	NM_001032283.3(TMPO):c.990+166G>C	not provided [RCV001561893]	likely benign	12	98545227	98545227	Human		name
150414049	CV1191485	single nucleotide variant	NM_001032283.3(TMPO):c.280-188A>G	not provided [RCV001567392]	likely benign	12	98527698	98527698	Human		name
150412071	CV1198439	single nucleotide variant	NM_001032283.3(TMPO):c.406+296G>C	not provided [RCV001574242]	likely benign	12	98528308	98528308	Human		name
150415331	CV1198440	single nucleotide variant	NM_001032283.3(TMPO):c.407-219C>T	not provided [RCV001575352]	likely benign	12	98531461	98531461	Human		name
150460790	CV1205824	single nucleotide variant	NM_001032283.3(TMPO):c.879+191T>A	not provided [RCV001586781]	likely benign	12	98544728	98544728	Human		name
150500182	CV1212162	duplication	NM_001032283.3(TMPO):c.879+113dup	not provided [RCV001594516]	benign	12	98544638	98544639	Human		name
150445466	CV1233183	deletion	NM_001032283.3(TMPO):c.879+113del	not provided [RCV001645856]	benign	12	98544639	98544639	Human		name
150499843	CV1235803	single nucleotide variant	NM_001032283.3(TMPO):c.991-299C>A	not provided [RCV001656486]	benign	12	98546060	98546060	Human		name
150469213	CV1249058	single nucleotide variant	NM_001032283.3(TMPO):c.280-286A>T	not provided [RCV001670819]	benign	12	98527600	98527600	Human		name
150469050	CV1259592	single nucleotide variant	NM_001032283.3(TMPO):c.663+178T>C	not provided [RCV001683893]	benign	12	98537750	98537750	Human		name
150451210	CV1276564	single nucleotide variant	NM_001032283.3(TMPO):c.990+333G>A	not provided [RCV001708353]	benign	12	98545394	98545394	Human		name
150491898	CV1280705	single nucleotide variant	NM_001032283.3(TMPO):c.566-142T>C	not provided [RCV001716717]	benign	12	98537333	98537333	Human		name
150487070	CV1283738	single nucleotide variant	NM_001032283.3(TMPO):c.990+281T>C	not provided [RCV001715890]	benign	12	98545342	98545342	Human		name
150543829	CV1295782	single nucleotide variant	NM_001032283.3(TMPO):c.565+996G>A	not provided [RCV001771012]\|not specified [RCV004040146]	uncertain significance	12	98532834	98532834	Human		name
405016545	CV2863263	single nucleotide variant	NM_001032283.3(TMPO):c.565+995A>C	Loeys-Dietz syndrome 2 [RCV003515497]	uncertain significance	12	98532833	98532833	Human	1	name
11657200	CV327099	single nucleotide variant	NM_001032283.3(TMPO):c.565+981A>G	Loeys-Dietz syndrome 2 [RCV005078214]	likely benign\|uncertain significance	12	98532819	98532819	Human	1	name
12888060	CV399598	single nucleotide variant	NM_001032283.3(TMPO):c.565+999C>T	Loeys-Dietz syndrome 2 [RCV000470219]\|not specified [RCV004022808]	uncertain significance	12	98532837	98532837	Human	1	name
14746267	CV666200	single nucleotide variant	NM_001032283.3(TMPO):c.280-321C>T	not provided [RCV000844256]	benign	12	98527565	98527565	Human		name
14735908	CV666937	single nucleotide variant	NM_001032283.3(TMPO):c.565+748T>C	not provided [RCV000838231]	benign	12	98532586	98532586	Human		name
14722714	CV667012	single nucleotide variant	NM_001032283.3(TMPO):c.280-131G>T	not provided [RCV000832221]	benign	12	98527755	98527755	Human		name
14722720	CV667022	single nucleotide variant	NM_001032283.3(TMPO):c.407-203T>C	not provided [RCV000832223]	benign	12	98531477	98531477	Human		name
14723013	CV667279	single nucleotide variant	NM_001032283.3(TMPO):c.280-102A>G	not provided [RCV000832349]	benign	12	98527784	98527784	Human		name
14731335	CV667293	single nucleotide variant	NM_001032283.3(TMPO):c.565+107A>T	not provided [RCV000836075]	likely benign	12	98531945	98531945	Human		name
14735907	CV667298	single nucleotide variant	NM_001032283.3(TMPO):c.565+249C>A	not provided [RCV000838230]	benign	12	98532087	98532087	Human		name
126765907	CV1010716	single nucleotide variant	NM_001032283.3(TMPO):c.565+1155A>G	Loeys-Dietz syndrome 2 [RCV001320227]\|not specified [RCV005286403]	uncertain significance	12	98532993	98532993	Human	1	name
126727537	CV1010717	single nucleotide variant	NM_001032283.3(TMPO):c.565+1384A>G	Loeys-Dietz syndrome 2 [RCV001312300]\|not specified [RCV004034251]	uncertain significance	12	98533222	98533222	Human	1	name
126757822	CV1010718	single nucleotide variant	NM_001032283.3(TMPO):c.565+1414G>A	Loeys-Dietz syndrome 2 [RCV001317603]	uncertain significance	12	98533252	98533252	Human	1	name
126732781	CV1010719	single nucleotide variant	NM_001032283.3(TMPO):c.565+1467C>G	Loeys-Dietz syndrome 2 [RCV001313279]	uncertain significance	12	98533305	98533305	Human	1	name
126764886	CV1010720	single nucleotide variant	NM_001032283.3(TMPO):c.565+1584G>C	Loeys-Dietz syndrome 2 [RCV001319827]	uncertain significance	12	98533422	98533422	Human	1	name
126770606	CV1010721	single nucleotide variant	NM_001032283.3(TMPO):c.565+1597T>C	Loeys-Dietz syndrome 2 [RCV001322672]\|not specified [RCV004035076]	uncertain significance	12	98533435	98533435	Human	1	name
126762841	CV1010722	single nucleotide variant	NM_001032283.3(TMPO):c.565+1692C>A	Loeys-Dietz syndrome 2 [RCV001319055]	uncertain significance	12	98533530	98533530	Human	1	name
126754333	CV1010724	single nucleotide variant	NM_001032283.3(TMPO):c.565+2331A>G	Loeys-Dietz syndrome 2 [RCV001327486]	uncertain significance	12	98534169	98534169	Human	1	name
126759967	CV1031220	single nucleotide variant	NM_001032283.3(TMPO):c.565+1795C>A	Loeys-Dietz syndrome 2 [RCV001340279]	uncertain significance	12	98533633	98533633	Human	1	name
126761914	CV1031221	single nucleotide variant	NM_001032283.3(TMPO):c.565+2079C>T	Loeys-Dietz syndrome 2 [RCV001340824]	uncertain significance	12	98533917	98533917	Human	1	name
126773761	CV1031222	single nucleotide variant	NM_001032283.3(TMPO):c.565+2101G>A	Loeys-Dietz syndrome 2 [RCV001346441]	uncertain significance	12	98533939	98533939	Human	1	name
126772033	CV1031223	single nucleotide variant	NM_001032283.3(TMPO):c.565+2188C>T	Loeys-Dietz syndrome 2 [RCV001345384]\|not specified [RCV004036457]	likely benign\|uncertain significance	12	98534026	98534026	Human	1	name
126914771	CV1048206	single nucleotide variant	NM_001032283.3(TMPO):c.565+1026A>G	Loeys-Dietz syndrome 2 [RCV001370588]\|not specified [RCV004037476]	uncertain significance	12	98532864	98532864	Human	1	name
126908872	CV1048207	single nucleotide variant	NM_001032283.3(TMPO):c.565+1905G>T	Loeys-Dietz syndrome 2 [RCV001368134]	uncertain significance	12	98533743	98533743	Human	1	name
126908404	CV1048208	single nucleotide variant	NM_001032283.3(TMPO):c.565+2425C>T	Loeys-Dietz syndrome 2 [RCV001367821]	uncertain significance	12	98534263	98534263	Human	1	name
127232793	CV1079787	single nucleotide variant	NM_001032283.3(TMPO):c.565+1127C>T	Loeys-Dietz syndrome 2 [RCV001395885]\|not specified [RCV003331149]	likely benign	12	98532965	98532965	Human	1	name
127282592	CV1079788	single nucleotide variant	NM_001032283.3(TMPO):c.565+1448G>A	Loeys-Dietz syndrome 2 [RCV001411203]	likely benign	12	98533286	98533286	Human	1	name
127243369	CV1079789	single nucleotide variant	NM_001032283.3(TMPO):c.565+2426T>C	Loeys-Dietz syndrome 2 [RCV001393501]	likely benign	12	98534264	98534264	Human	1	name
127283226	CV1101566	single nucleotide variant	NM_001032283.3(TMPO):c.565+1199C>T	Loeys-Dietz syndrome 2 [RCV001448387]	likely benign	12	98533037	98533037	Human	1	name
127272408	CV1101567	single nucleotide variant	NM_001032283.3(TMPO):c.565+1532G>A	Loeys-Dietz syndrome 2 [RCV001442189]	likely benign	12	98533370	98533370	Human	1	name
127297673	CV1123047	single nucleotide variant	NM_001032283.3(TMPO):c.565+1103C>T	Loeys-Dietz syndrome 2 [RCV001477673]\|not specified [RCV004681199]	likely benign	12	98532941	98532941	Human	1	name
127335227	CV1123048	single nucleotide variant	NM_001032283.3(TMPO):c.565+1409C>T	Loeys-Dietz syndrome 2 [RCV001474105]\|not specified [RCV004037147]	likely benign	12	98533247	98533247	Human	1	name
127322475	CV1123049	single nucleotide variant	NM_001032283.3(TMPO):c.565+1688G>T	Loeys-Dietz syndrome 2 [RCV001467603]\|not specified [RCV004038665]	likely benign	12	98533526	98533526	Human	1	name
127298590	CV1123050	single nucleotide variant	NM_001032283.3(TMPO):c.565+2421C>T	Loeys-Dietz syndrome 2 [RCV001460594]	likely benign	12	98534259	98534259	Human	1	name
127319615	CV1143917	single nucleotide variant	NM_001032283.3(TMPO):c.565+1346T>G	Loeys-Dietz syndrome 2 [RCV001504093]\|not specified [RCV004037834]	likely benign	12	98533184	98533184	Human	1	name
127291050	CV1143918	single nucleotide variant	NM_001032283.3(TMPO):c.565+1468A>G	Loeys-Dietz syndrome 2 [RCV001496123]\|not provided [RCV001751776]	likely benign\|uncertain significance	12	98533306	98533306	Human	1	name
127336541	CV1143919	single nucleotide variant	NM_001032283.3(TMPO):c.565+1472G>A	Loeys-Dietz syndrome 2 [RCV001492212]\|not specified [RCV004037319]	likely benign	12	98533310	98533310	Human	1	name
127288498	CV1143920	single nucleotide variant	NM_001032283.3(TMPO):c.565+1880C>A	Loeys-Dietz syndrome 2 [RCV001495260]	likely benign	12	98533718	98533718	Human	1	name
127305777	CV1143921	single nucleotide variant	NM_001032283.3(TMPO):c.565+2339C>G	Loeys-Dietz syndrome 2 [RCV001479839]	likely benign	12	98534177	98534177	Human	1	name
150421099	CV1194734	single nucleotide variant	NM_001032283.3(TMPO):c.565+2744C>G	not provided [RCV001570401]	likely benign	12	98534582	98534582	Human		name
150437014	CV1200911	single nucleotide variant	NM_001032283.3(TMPO):c.565+2102C>G	Loeys-Dietz syndrome 2 [RCV001866108]\|not provided [RCV001582991]\|not specified [RCV004039469]	likely benign\|uncertain significance	12	98533940	98533940	Human	1	name
150477020	CV1203127	deletion	NM_001032283.3(TMPO):c.565+1928del	Loeys-Dietz syndrome 2 [RCV001866133]\|not provided [RCV001589721]	uncertain significance	12	98533765	98533765	Human	1	name
150453576	CV1205667	single nucleotide variant	NM_001032283.3(TMPO):c.565+1576T>C	Loeys-Dietz syndrome 2 [RCV002579449]\|not provided [RCV001585568]\|not specified [RCV004039500]	uncertain significance	12	98533414	98533414	Human	1	name
150456082	CV1269028	single nucleotide variant	NM_001032283.3(TMPO):c.1080-128A>G	not provided [RCV001692852]	benign	12	98547445	98547445	Human		name
150530180	CV1291464	single nucleotide variant	NM_001032283.3(TMPO):c.565+2150A>G	Loeys-Dietz syndrome 2 [RCV003514516]\|not provided [RCV001732779]	likely benign	12	98533988	98533988	Human	1	name
150534197	CV1293268	single nucleotide variant	NM_001032283.3(TMPO):c.565+2247C>G	Loeys-Dietz syndrome 2 [RCV002032767]\|not provided [RCV001756488]	uncertain significance	12	98534085	98534085	Human	1	name
150535105	CV1293613	single nucleotide variant	NM_001032283.3(TMPO):c.565+1479T>C	not provided [RCV001757890]	uncertain significance	12	98533317	98533317	Human		name
150541129	CV1296326	single nucleotide variant	NM_001032283.3(TMPO):c.565+1168A>T	Loeys-Dietz syndrome 2 [RCV003514518]\|not provided [RCV001767336]\|not specified [RCV005286503]	uncertain significance	12	98533006	98533006	Human	1	name
150544284	CV1297707	single nucleotide variant	NM_001032283.3(TMPO):c.565+2367C>T	Loeys-Dietz syndrome 2 [RCV003626682]\|not provided [RCV001772614]	uncertain significance	12	98534205	98534205	Human	1	name
150542074	CV1298143	single nucleotide variant	NM_001032283.3(TMPO):c.565+1012A>C	Loeys-Dietz syndrome 2 [RCV005094957]\|not provided [RCV001768756]\|not specified [RCV004040114]	uncertain significance	12	98532850	98532850	Human	1	name
150539129	CV1299878	single nucleotide variant	NM_001032283.3(TMPO):c.565+1873T>C	Loeys-Dietz syndrome 2 [RCV002544063]\|not provided [RCV001765347]\|not specified [RCV004040185]	uncertain significance	12	98533711	98533711	Human	1	name
150535407	CV1300520	single nucleotide variant	NM_001032283.3(TMPO):c.565+2182T>C	Loeys-Dietz syndrome 2 [RCV001868504]\|not provided [RCV001758648]\|not specified [RCV004040224]	likely benign\|uncertain significance	12	98534020	98534020	Human	1	name
150536899	CV1303864	single nucleotide variant	NM_001032283.3(TMPO):c.565+1311C>A	not provided [RCV001763967]	uncertain significance	12	98533149	98533149	Human		name
151798166	CV1352708	single nucleotide variant	NM_001032283.3(TMPO):c.565+1692C>T	Loeys-Dietz syndrome 2 [RCV001877130]	uncertain significance	12	98533530	98533530	Human	1	name
151820200	CV1363328	single nucleotide variant	NM_001032283.3(TMPO):c.565+2002C>T	Loeys-Dietz syndrome 2 [RCV002049716]	uncertain significance	12	98533840	98533840	Human	1	name
151861843	CV1364986	single nucleotide variant	NM_001032283.3(TMPO):c.565+1584G>A	Loeys-Dietz syndrome 2 [RCV002017848]\|TMPO-related disorder [RCV003408082]	uncertain significance	12	98533422	98533422	Human	2	name , trait , alternate_id
151870343	CV1375465	single nucleotide variant	NM_001032283.3(TMPO):c.565+2299A>G	Loeys-Dietz syndrome 2 [RCV001960339]\|not specified [RCV004043198]	uncertain significance	12	98534137	98534137	Human	1	name
151865463	CV1381026	single nucleotide variant	NM_001032283.3(TMPO):c.565+2472A>C	Loeys-Dietz syndrome 2 [RCV002018283]	uncertain significance	12	98534310	98534310	Human	1	name
151729124	CV1388768	single nucleotide variant	NM_001032283.3(TMPO):c.565+2014C>G	Loeys-Dietz syndrome 2 [RCV001966926]	uncertain significance	12	98533852	98533852	Human	1	name
151767869	CV1394027	single nucleotide variant	NM_001032283.3(TMPO):c.565+1809G>A	Loeys-Dietz syndrome 2 [RCV002008560]	uncertain significance	12	98533647	98533647	Human	1	name
151785367	CV1397117	single nucleotide variant	NM_001032283.3(TMPO):c.565+1246T>C	Loeys-Dietz syndrome 2 [RCV001930838]\|not specified [RCV004043602]	uncertain significance	12	98533084	98533084	Human	1	name
151848781	CV1402798	single nucleotide variant	NM_001032283.3(TMPO):c.565+1161A>G	Loeys-Dietz syndrome 2 [RCV001882322]	uncertain significance	12	98532999	98532999	Human	1	name
151781955	CV1422200	single nucleotide variant	NM_001032283.3(TMPO):c.565+1084T>A	Loeys-Dietz syndrome 2 [RCV001972162]\|not specified [RCV004042900]	uncertain significance	12	98532922	98532922	Human	1	name
151748533	CV1422442	single nucleotide variant	NM_001032283.3(TMPO):c.565+2488G>A	Loeys-Dietz syndrome 2 [RCV001927268]\|not specified [RCV004041500]	uncertain significance	12	98534326	98534326	Human	1	name
151740610	CV1425314	single nucleotide variant	NM_001032283.3(TMPO):c.565+1361T>G	Loeys-Dietz syndrome 2 [RCV001926430]\|not specified [RCV004044185]	uncertain significance	12	98533199	98533199	Human	1	name
151752083	CV1426820	duplication	NM_001032283.3(TMPO):c.565+1829dup	Loeys-Dietz syndrome 2 [RCV002006963]	uncertain significance	12	98533666	98533667	Human	1	name
151747510	CV1432384	single nucleotide variant	NM_001032283.3(TMPO):c.565+1439A>C	Loeys-Dietz syndrome 2 [RCV001985907]	uncertain significance	12	98533277	98533277	Human	1	name
151773898	CV1444262	single nucleotide variant	NM_001032283.3(TMPO):c.565+1273A>G	Loeys-Dietz syndrome 2 [RCV001896607]	uncertain significance	12	98533111	98533111	Human	1	name
151767831	CV1444363	single nucleotide variant	NM_001032283.3(TMPO):c.565+2067C>G	Loeys-Dietz syndrome 2 [RCV001949864]	uncertain significance	12	98533905	98533905	Human	1	name
151844213	CV1457784	single nucleotide variant	NM_001032283.3(TMPO):c.565+2431C>G	Loeys-Dietz syndrome 2 [RCV001936490]\|not specified [RCV004041870]	uncertain significance	12	98534269	98534269	Human	1	name
151763579	CV1462051	single nucleotide variant	NM_001032283.3(TMPO):c.565+2474A>C	Loeys-Dietz syndrome 2 [RCV001970465]	uncertain significance	12	98534312	98534312	Human	1	name
151726838	CV1488338	single nucleotide variant	NM_001032283.3(TMPO):c.565+2095A>C	Loeys-Dietz syndrome 2 [RCV001966697]\|not specified [RCV004042165]	uncertain significance	12	98533933	98533933	Human	1	name
151723564	CV1488611	single nucleotide variant	NM_001032283.3(TMPO):c.565+1567C>T	Loeys-Dietz syndrome 2 [RCV002003992]\|not provided [RCV003151878]\|not specified [RCV004045941]	uncertain significance	12	98533405	98533405	Human	1	name
151712607	CV1489708	single nucleotide variant	NM_001032283.3(TMPO):c.565+2175A>G	Loeys-Dietz syndrome 2 [RCV001889685]	uncertain significance	12	98534013	98534013	Human	1	name
151755525	CV1498903	single nucleotide variant	NM_001032283.3(TMPO):c.565+2281C>T	Loeys-Dietz syndrome 2 [RCV002023810]	uncertain significance	12	98534119	98534119	Human	1	name
151855273	CV1506599	single nucleotide variant	NM_001032283.3(TMPO):c.565+1949C>G	Loeys-Dietz syndrome 2 [RCV001937866]\|not specified [RCV004042751]	uncertain significance	12	98533787	98533787	Human	1	name
152139517	CV1533545	single nucleotide variant	NM_001032283.3(TMPO):c.565+1709T>C	Loeys-Dietz syndrome 2 [RCV002083967]	likely benign	12	98533547	98533547	Human	1	name
152143838	CV1543045	single nucleotide variant	NM_001032283.3(TMPO):c.565+1559T>C	Loeys-Dietz syndrome 2 [RCV002178419]\|not specified [RCV004047074]	likely benign	12	98533397	98533397	Human	1	name
152096849	CV1558052	single nucleotide variant	NM_001032283.3(TMPO):c.565+1382C>T	Loeys-Dietz syndrome 2 [RCV002172575]	likely benign	12	98533220	98533220	Human	1	name
152053853	CV1573384	single nucleotide variant	NM_001032283.3(TMPO):c.565+1106C>A	Loeys-Dietz syndrome 2 [RCV002207843]\|not specified [RCV004045677]	likely benign	12	98532944	98532944	Human	1	name
152085065	CV1623005	single nucleotide variant	NM_001032283.3(TMPO):c.565+2261G>T	Loeys-Dietz syndrome 2 [RCV002113270]\|not specified [RCV004046281]	likely benign	12	98534099	98534099	Human	1	name
152130293	CV1630940	single nucleotide variant	NM_001032283.3(TMPO):c.565+1319C>T	Loeys-Dietz syndrome 2 [RCV002118998]	likely benign	12	98533157	98533157	Human	1	name
152142751	CV1636501	single nucleotide variant	NM_001032283.3(TMPO):c.565+2273G>A	Loeys-Dietz syndrome 2 [RCV002120603]\|not specified [RCV004681450]	likely benign	12	98534111	98534111	Human	1	name
152168103	CV1642979	single nucleotide variant	NM_001032283.3(TMPO):c.565+2504G>A	Loeys-Dietz syndrome 2 [RCV002204885]	likely benign	12	98534342	98534342	Human	1	name
152073972	CV1660542	single nucleotide variant	NM_001032283.3(TMPO):c.565+2261G>A	Loeys-Dietz syndrome 2 [RCV002169657]\|not specified [RCV004044992]	likely benign	12	98534099	98534099	Human	1	name
9690156	CV175754	single nucleotide variant	NM_001032283.3(TMPO):c.565+1137G>A	Loeys-Dietz syndrome 2 [RCV001313511]\|not provided [RCV001770116]\|not specified [RCV000155819]	uncertain significance	12	98532975	98532975	Human	1	name
9690784	CV175755	single nucleotide variant	NM_001032283.3(TMPO):c.565+1606C>T	not specified [RCV000156474]	uncertain significance	12	98533444	98533444	Human		name
9689355	CV175756	single nucleotide variant	NM_001032283.3(TMPO):c.565+1728G>C	Loeys-Dietz syndrome 2 [RCV000228189]\|Primary dilated cardiomyopathy [RCV000852683]\|TMPO-related disorder [RCV003907464]\|not provided [RCV004704997]\|not specified [RCV000154858]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	98533566	98533566	Human	3	name , trait , alternate_id
9691014	CV175757	single nucleotide variant	NM_001032283.3(TMPO):c.565+1917A>G	Loeys-Dietz syndrome 2 [RCV002515033]\|not provided [RCV004691773]\|not specified [RCV000156714]	uncertain significance	12	98533755	98533755	Human	1	name
9689353	CV175894	single nucleotide variant	NM_001032283.3(TMPO):c.565+1105C>T	Loeys-Dietz syndrome 2 [RCV001080218]\|not provided [RCV000172595]\|not specified [RCV000154856]	benign\|likely benign\|uncertain significance	12	98532943	98532943	Human	1	name
9688178	CV175895	single nucleotide variant	NM_001032283.3(TMPO):c.565+1328G>T	Loeys-Dietz syndrome 2 [RCV000815161]\|not provided [RCV003227675]\|not specified [RCV000152054]	uncertain significance	12	98533166	98533166	Human	1	name
9689354	CV175896	single nucleotide variant	NM_001032283.3(TMPO):c.565+1641A>G	Hypertrophic cardiomyopathy [RCV000852681]\|Loeys-Dietz syndrome 2 [RCV001047321]\|not provided [RCV001589012]\|not specified [RCV000154857]	likely benign\|uncertain significance	12	98533479	98533479	Human	3	name
9688179	CV175897	single nucleotide variant	NM_001032283.3(TMPO):c.565+1848G>A	Loeys-Dietz syndrome 2 [RCV000529930]\|not provided [RCV001570681]\|not specified [RCV000152055]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	98533686	98533686	Human	1	name
9689356	CV175898	single nucleotide variant	NM_001032283.3(TMPO):c.565+2224A>G	Loeys-Dietz syndrome 2 [RCV000865214]\|TMPO-related disorder [RCV003917517]\|not provided [RCV001719964]\|not specified [RCV000154859]	likely benign	12	98534062	98534062	Human	2	name , trait , alternate_id
155738141	CV1772930	single nucleotide variant	NM_001032283.3(TMPO):c.565+2340C>T	Loeys-Dietz syndrome 2 [RCV002302129]	uncertain significance	12	98534178	98534178	Human	1	name
9832551	CV178660	single nucleotide variant	NM_001032283.3(TMPO):c.565+1485A>G	Loeys-Dietz syndrome 2 [RCV000687239]\|Primary familial hypertrophic cardiomyopathy [RCV000157528]	uncertain significance	12	98533323	98533323	Human	2	name
155693626	CV1786989	single nucleotide variant	NM_001032283.3(TMPO):c.565+1577C>T	not specified [RCV004048793]	likely benign	12	98533415	98533415	Human		name
155678766	CV1789708	single nucleotide variant	NM_001032283.3(TMPO):c.565+1569C>T	not specified [RCV004049676]	likely benign	12	98533407	98533407	Human		name
155704335	CV1795372	single nucleotide variant	NM_001032283.3(TMPO):c.565+1555A>G	not specified [RCV004049432]	uncertain significance	12	98533393	98533393	Human		name
155740886	CV1797366	single nucleotide variant	NM_001032283.3(TMPO):c.565+1584G>T	Loeys-Dietz syndrome 2 [RCV003775826]\|not specified [RCV004051751]	uncertain significance	12	98533422	98533422	Human	1	name
155689647	CV1800603	single nucleotide variant	NM_001032283.3(TMPO):c.565+1017A>G	Loeys-Dietz syndrome 2 [RCV003626739]\|not specified [RCV004052527]	uncertain significance	12	98532855	98532855	Human	1	name
155697480	CV1800965	single nucleotide variant	NM_001032283.3(TMPO):c.565+1633T>C	Loeys-Dietz syndrome 2 [RCV003626740]\|not specified [RCV004052624]	uncertain significance	12	98533471	98533471	Human	1	name
155738170	CV1805042	single nucleotide variant	NM_001032283.3(TMPO):c.565+1598G>T	not specified [RCV004051450]	uncertain significance	12	98533436	98533436	Human		name
155743019	CV1806318	single nucleotide variant	NM_001032283.3(TMPO):c.565+1436A>G	not specified [RCV004052384]	likely benign	12	98533274	98533274	Human		name
155680186	CV1807151	single nucleotide variant	NM_001032283.3(TMPO):c.565+1005A>G	Loeys-Dietz syndrome 2 [RCV003626738]\|not specified [RCV004054206]	uncertain significance	12	98532843	98532843	Human	1	name
155712497	CV1807982	single nucleotide variant	NM_001032283.3(TMPO):c.565+1063G>T	not specified [RCV004054004]	uncertain significance	12	98532901	98532901	Human		name
155740611	CV1809508	single nucleotide variant	NM_001032283.3(TMPO):c.565+1609C>G	Loeys-Dietz syndrome 2 [RCV003626728]\|not specified [RCV004050878]	uncertain significance	12	98533447	98533447	Human	1	name
155679389	CV1810860	single nucleotide variant	NM_001032283.3(TMPO):c.565+1001C>T	not specified [RCV004054152]	likely benign	12	98532839	98532839	Human		name
155705714	CV1811291	single nucleotide variant	NM_001032283.3(TMPO):c.565+1029G>A	not specified [RCV004053260]	uncertain significance	12	98532867	98532867	Human		name
155716127	CV1812490	single nucleotide variant	NM_001032283.3(TMPO):c.565+1114C>A	not specified [RCV004053508]	uncertain significance	12	98532952	98532952	Human		name
155714940	CV1815415	single nucleotide variant	NM_001032283.3(TMPO):c.565+1106C>G	not specified [RCV004052905]	likely benign	12	98532944	98532944	Human		name
155696724	CV1816154	single nucleotide variant	NM_001032283.3(TMPO):c.565+1169C>G	not specified [RCV004056343]	uncertain significance	12	98533007	98533007	Human		name
155712282	CV1817943	single nucleotide variant	NM_001032283.3(TMPO):c.565+1334C>T	Loeys-Dietz syndrome 2 [RCV003100110]\|not specified [RCV004055042]	likely benign	12	98533172	98533172	Human	1	name
155676125	CV1818636	single nucleotide variant	NM_001032283.3(TMPO):c.565+1095G>C	not specified [RCV004052785]	uncertain significance	12	98532933	98532933	Human		name
155730126	CV1819814	single nucleotide variant	NM_001032283.3(TMPO):c.565+1192C>G	not specified [RCV004054631]	uncertain significance	12	98533030	98533030	Human		name
155714720	CV1820853	single nucleotide variant	NM_001032283.3(TMPO):c.565+1278T>C	not specified [RCV004056540]	uncertain significance	12	98533116	98533116	Human		name
155722187	CV1821777	single nucleotide variant	NM_001032283.3(TMPO):c.565+1728G>T	not specified [RCV004058303]	uncertain significance	12	98533566	98533566	Human		name
155732187	CV1826382	single nucleotide variant	NM_001032283.3(TMPO):c.565+1774C>T	not specified [RCV004058809]	uncertain significance	12	98533612	98533612	Human		name
155733069	CV1826561	single nucleotide variant	NM_001032283.3(TMPO):c.565+1781C>T	Loeys-Dietz syndrome 2 [RCV003095033]\|not specified [RCV004058845]	likely benign	12	98533619	98533619	Human	1	name
155690463	CV1826839	single nucleotide variant	NM_001032283.3(TMPO):c.565+1847G>C	not specified [RCV004057272]	likely benign	12	98533685	98533685	Human		name
155691222	CV1826992	single nucleotide variant	NM_001032283.3(TMPO):c.565+1853G>A	not specified [RCV004057827]	likely benign	12	98533691	98533691	Human		name
155685001	CV1827187	single nucleotide variant	NM_001032283.3(TMPO):c.565+1924T>C	not specified [RCV004058563]	uncertain significance	12	98533762	98533762	Human		name
155718542	CV1827791	single nucleotide variant	NM_001032283.3(TMPO):c.565+2013T>C	not specified [RCV004057380]	uncertain significance	12	98533851	98533851	Human		name
155713173	CV1828110	single nucleotide variant	NM_001032283.3(TMPO):c.565+2087C>T	not specified [RCV004059807]	likely benign	12	98533925	98533925	Human		name
155730052	CV1828348	single nucleotide variant	NM_001032283.3(TMPO):c.565+2157T>C	not specified [RCV004060728]	likely benign	12	98533995	98533995	Human		name
155701248	CV1828617	single nucleotide variant	NM_001032283.3(TMPO):c.565+2170C>T	Loeys-Dietz syndrome 2 [RCV003108087]\|not specified [RCV004061295]	uncertain significance	12	98534008	98534008	Human	1	name
155681709	CV1829729	single nucleotide variant	NM_001032283.3(TMPO):c.565+1826C>T	Loeys-Dietz syndrome 2 [RCV003514573]\|not specified [RCV004057162]	likely benign	12	98533664	98533664	Human	1	name
155682026	CV1829778	single nucleotide variant	NM_001032283.3(TMPO):c.565+1828C>G	not specified [RCV004057170]	uncertain significance	12	98533666	98533666	Human		name
155683525	CV1830243	single nucleotide variant	NM_001032283.3(TMPO):c.565+1908T>C	not specified [RCV004058485]	uncertain significance	12	98533746	98533746	Human		name
155724346	CV1831678	single nucleotide variant	NM_001032283.3(TMPO):c.565+2156A>G	not specified [RCV004060712]	likely benign	12	98533994	98533994	Human		name
155737982	CV1831829	single nucleotide variant	NM_001032283.3(TMPO):c.565+2228T>C	not specified [RCV004059308]	likely benign	12	98534066	98534066	Human		name
155731962	CV1833911	single nucleotide variant	NM_001032283.3(TMPO):c.565+2041T>C	not specified [RCV004057523]	uncertain significance	12	98533879	98533879	Human		name
155732913	CV1834138	single nucleotide variant	NM_001032283.3(TMPO):c.565+2051T>C	not specified [RCV004058085]	likely benign	12	98533889	98533889	Human		name
155725872	CV1834337	single nucleotide variant	NM_001032283.3(TMPO):c.565+1474C>T	Loeys-Dietz syndrome 2 [RCV003097139]\|not specified [RCV004060517]	uncertain significance	12	98533312	98533312	Human	1	name
155714966	CV1834902	single nucleotide variant	NM_001032283.3(TMPO):c.565+2210T>C	Loeys-Dietz syndrome 2 [RCV003100844]\|not specified [RCV004059228]	likely benign	12	98534048	98534048	Human	1	name
155746560	CV1835207	single nucleotide variant	NM_001032283.3(TMPO):c.565+2297A>G	Loeys-Dietz syndrome 2 [RCV003626776]\|not specified [RCV004060146]	likely benign	12	98534135	98534135	Human	1	name
155746778	CV1835301	single nucleotide variant	NM_001032283.3(TMPO):c.565+2300T>C	Loeys-Dietz syndrome 2 [RCV003097324]\|not specified [RCV004060165]	likely benign	12	98534138	98534138	Human	1	name
155721495	CV1835941	single nucleotide variant	NM_001032283.3(TMPO):c.565+1724G>C	Loeys-Dietz syndrome 2 [RCV003514572]\|not specified [RCV004058275]	uncertain significance	12	98533562	98533562	Human	1	name
155706886	CV1837275	single nucleotide variant	NM_001032283.3(TMPO):c.565+1956C>T	Loeys-Dietz syndrome 2 [RCV003514574]\|not specified [RCV004058989]	likely benign	12	98533794	98533794	Human	1	name
155707097	CV1837312	single nucleotide variant	NM_001032283.3(TMPO):c.565+1958G>A	Loeys-Dietz syndrome 2 [RCV003095304]\|not specified [RCV004058998]	likely benign	12	98533796	98533796	Human	1	name
155702382	CV1837605	single nucleotide variant	NM_001032283.3(TMPO):c.565+2029A>G	Loeys-Dietz syndrome 2 [RCV003097000]\|not specified [RCV004057465]	uncertain significance	12	98533867	98533867	Human	1	name
155723389	CV1837846	single nucleotide variant	NM_001032283.3(TMPO):c.565+2099T>C	Loeys-Dietz syndrome 2 [RCV003626766]\|not specified [RCV004059873]	likely benign	12	98533937	98533937	Human	1	name
155730854	CV1838224	single nucleotide variant	NM_001032283.3(TMPO):c.565+2179C>T	Loeys-Dietz syndrome 2 [RCV003100818]\|not specified [RCV004061336]	uncertain significance	12	98534017	98534017	Human	1	name
155745810	CV1838837	single nucleotide variant	NM_001032283.3(TMPO):c.565+2279A>C	not specified [RCV004060057]	uncertain significance	12	98534117	98534117	Human		name
155701594	CV1839057	single nucleotide variant	NM_001032283.3(TMPO):c.565+2176C>T	not specified [RCV004061316]	uncertain significance	12	98534014	98534014	Human		name
155743052	CV1839248	single nucleotide variant	NM_001032283.3(TMPO):c.565+2251C>T	Loeys-Dietz syndrome 2 [RCV003097285]\|not specified [RCV004059428]	uncertain significance	12	98534089	98534089	Human	1	name
155681298	CV1839608	single nucleotide variant	NM_001032283.3(TMPO):c.565+2384G>A	not specified [RCV004061561]	likely benign	12	98534222	98534222	Human		name
155748622	CV1840422	single nucleotide variant	NM_001032283.3(TMPO):c.565+1502A>G	not specified [RCV004061070]	likely benign	12	98533340	98533340	Human		name
155722763	CV1842005	single nucleotide variant	NM_001032283.3(TMPO):c.565+1520A>G	not specified [RCV004062062]	likely benign	12	98533358	98533358	Human		name
155675782	CV1843310	single nucleotide variant	NM_001032283.3(TMPO):c.565+2378C>T	not specified [RCV004061526]	likely benign	12	98534216	98534216	Human		name
155670059	CV1843440	single nucleotide variant	NM_001032283.3(TMPO):c.565+2453A>G	not specified [RCV004059577]	likely benign	12	98534291	98534291	Human		name
155676756	CV1843718	single nucleotide variant	NM_001032283.3(TMPO):c.565+2469T>A	not specified [RCV004059646]	uncertain significance	12	98534307	98534307	Human		name
155747901	CV1846385	single nucleotide variant	NM_001032283.3(TMPO):c.565+2425C>G	not specified [RCV004059482]	uncertain significance	12	98534263	98534263	Human		name
155669475	CV1846748	single nucleotide variant	NM_001032283.3(TMPO):c.565+2447A>T	not specified [RCV004059550]	likely benign	12	98534285	98534285	Human		name
155706501	CV1850942	single nucleotide variant	NM_001032283.3(TMPO):c.565+1509G>C	not specified [RCV004062616]	uncertain significance	12	98533347	98533347	Human		name
155706882	CV1851048	single nucleotide variant	NM_001032283.3(TMPO):c.565+1510A>T	not specified [RCV004062636]	uncertain significance	12	98533348	98533348	Human		name
155727355	CV1851534	single nucleotide variant	NM_001032283.3(TMPO):c.565+1517A>T	not specified [RCV004063786]	likely benign	12	98533355	98533355	Human		name
156170215	CV1867052	single nucleotide variant	NM_001032283.3(TMPO):c.565+1420A>G	Loeys-Dietz syndrome 2 [RCV003626804]\|not provided [RCV002508604]\|not specified [RCV004681488]	uncertain significance	12	98533258	98533258	Human	1	name
156049649	CV1868944	single nucleotide variant	NM_001032283.3(TMPO):c.565+2180C>T	Loeys-Dietz syndrome 2 [RCV003052952]\|not specified [RCV004070215]	likely benign	12	98534018	98534018	Human	1	name
156182189	CV1884656	single nucleotide variant	NM_001032283.3(TMPO):c.565+2220G>A	Loeys-Dietz syndrome 2 [RCV003083598]	uncertain significance	12	98534058	98534058	Human	1	name
156380916	CV1893559	deletion	NM_001032283.3(TMPO):c.565+1272del	Loeys-Dietz syndrome 2 [RCV003093264]	uncertain significance	12	98533110	98533110	Human	1	name
10046424	CV189918	single nucleotide variant	NM_001032283.3(TMPO):c.565+1305T>G	Loeys-Dietz syndrome 2 [RCV003626608]\|not provided [RCV000172126]\|not specified [RCV004020053]	uncertain significance	12	98533143	98533143	Human	1	name
10046425	CV189919	single nucleotide variant	NM_001032283.3(TMPO):c.565+1531C>T	Loeys-Dietz syndrome 2 [RCV001307581]\|not provided [RCV000172127]	uncertain significance	12	98533369	98533369	Human	1	name
10046426	CV189920	single nucleotide variant	NM_001032283.3(TMPO):c.565+1675A>G	Loeys-Dietz syndrome 2 [RCV001318983]\|not provided [RCV000172128]	uncertain significance	12	98533513	98533513	Human	1	name
10046691	CV189921	single nucleotide variant	NM_001032283.3(TMPO):c.565+1696C>T	Arrhythmogenic right ventricular cardiomyopathy [RCV000852682]\|Dilated cardiomyopathy 1T [RCV000625188]\|Loeys-Dietz syndrome 2 [RCV001081032]\|Primary dilated cardiomyopathy [RCV000578085]\|TMPO-related disorder [RCV003937542]\|not provided [RCV000172597]\|not speci ... (more) fied [RCV000223911]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	12	98533534	98533534	Human	7	name , trait , alternate_id
10046692	CV189922	single nucleotide variant	NM_001032283.3(TMPO):c.565+1750C>G	Loeys-Dietz syndrome 2 [RCV001078669]\|not provided [RCV000172598]	likely benign	12	98533588	98533588	Human	1	name
10046427	CV189923	single nucleotide variant	NM_001032283.3(TMPO):c.565+1824C>G	Loeys-Dietz syndrome 2 [RCV000803995]\|not provided [RCV000172129]	uncertain significance	12	98533662	98533662	Human	1	name
10046428	CV189924	single nucleotide variant	NM_001032283.3(TMPO):c.565+2439A>G	not provided [RCV000172130]	uncertain significance	12	98534277	98534277	Human		name
156019615	CV1914947	single nucleotide variant	NM_001032283.3(TMPO):c.565+2362T>C	Loeys-Dietz syndrome 2 [RCV002636643]	uncertain significance	12	98534200	98534200	Human	1	name
156190817	CV1915892	single nucleotide variant	NM_001032283.3(TMPO):c.565+1007A>G	Loeys-Dietz syndrome 2 [RCV002595367]	likely benign	12	98532845	98532845	Human	1	name
156298381	CV1919809	single nucleotide variant	NM_001032283.3(TMPO):c.565+1643A>G	Loeys-Dietz syndrome 2 [RCV002599049]\|not specified [RCV004068877]	uncertain significance	12	98533481	98533481	Human	1	name
155946597	CV1935666	single nucleotide variant	NM_001032283.3(TMPO):c.565+2434C>G	not provided [RCV002511415]	uncertain significance	12	98534272	98534272	Human		name
156436148	CV1937937	single nucleotide variant	NM_001032283.3(TMPO):c.565+1595T>G	Loeys-Dietz syndrome 2 [RCV003111896]	uncertain significance	12	98533433	98533433	Human	1	name
156400626	CV1981880	single nucleotide variant	NM_001032283.3(TMPO):c.565+2315A>G	Loeys-Dietz syndrome 2 [RCV002605566]	likely benign	12	98534153	98534153	Human	1	name
156416048	CV1983914	single nucleotide variant	NM_001032283.3(TMPO):c.565+1611A>C	Loeys-Dietz syndrome 2 [RCV002609967]\|not specified [RCV004065887]	uncertain significance	12	98533449	98533449	Human	1	name
10057585	CV198466	single nucleotide variant	NM_001032283.3(TMPO):c.565+1186T>A	Loeys-Dietz syndrome 2 [RCV001049700]\|not provided [RCV000183956]\|not specified [RCV004877658]	likely pathogenic\|likely benign\|uncertain significance	12	98533024	98533024	Human	1	name
10057590	CV198467	single nucleotide variant	NM_001032283.3(TMPO):c.565+1617A>G	Loeys-Dietz syndrome 2 [RCV000468616]\|not provided [RCV000183963]\|not specified [RCV004020239]	likely pathogenic\|likely benign\|uncertain significance	12	98533455	98533455	Human	1	name
10057595	CV198468	single nucleotide variant	NM_001032283.3(TMPO):c.565+2268A>T	Loeys-Dietz syndrome 2 [RCV001202094]\|not provided [RCV000183970]\|not specified [RCV004020240]	uncertain significance	12	98534106	98534106	Human	1	name
156275773	CV2004927	single nucleotide variant	NM_001032283.3(TMPO):c.565+2271C>T	Loeys-Dietz syndrome 2 [RCV002646680]	likely benign	12	98534109	98534109	Human	1	name
156317859	CV2025105	single nucleotide variant	NM_001032283.3(TMPO):c.565+2058G>T	Loeys-Dietz syndrome 2 [RCV002716906]	uncertain significance	12	98533896	98533896	Human	1	name
155968842	CV2030634	single nucleotide variant	NM_001032283.3(TMPO):c.565+1048G>C	Loeys-Dietz syndrome 2 [RCV002731526]\|not specified [RCV004877750]	uncertain significance	12	98532886	98532886	Human	1	name
156370216	CV2031036	single nucleotide variant	NM_001032283.3(TMPO):c.565+2367C>G	Loeys-Dietz syndrome 2 [RCV002721460]	uncertain significance	12	98534205	98534205	Human	1	name
156119352	CV2035793	single nucleotide variant	NM_001032283.3(TMPO):c.565+1179G>T	Loeys-Dietz syndrome 2 [RCV002785727]	uncertain significance	12	98533017	98533017	Human	1	name
156116395	CV2042747	deletion	NM_001032283.3(TMPO):c.565+1983del	Loeys-Dietz syndrome 2 [RCV002800048]\|not specified [RCV003317621]	uncertain significance	12	98533821	98533821	Human	1	name
156017998	CV2044242	single nucleotide variant	NM_001032283.3(TMPO):c.565+1790G>A	Loeys-Dietz syndrome 2 [RCV002795445]	uncertain significance	12	98533628	98533628	Human	1	name
156308828	CV2067121	single nucleotide variant	NM_001032283.3(TMPO):c.565+1814C>G	Loeys-Dietz syndrome 2 [RCV002833999]	likely benign	12	98533652	98533652	Human	1	name
155982268	CV2070177	single nucleotide variant	NM_001032283.3(TMPO):c.565+2460G>A	Loeys-Dietz syndrome 2 [RCV002842579]	uncertain significance	12	98534298	98534298	Human	1	name
156011683	CV2075660	single nucleotide variant	NM_001032283.3(TMPO):c.565+1154T>C	Loeys-Dietz syndrome 2 [RCV002843907]	likely benign	12	98532992	98532992	Human	1	name
156266226	CV2092119	single nucleotide variant	NM_001032283.3(TMPO):c.565+2169A>G	Loeys-Dietz syndrome 2 [RCV002895768]\|not provided [RCV004779376]	uncertain significance	12	98534007	98534007	Human	1	name
156057979	CV2102159	single nucleotide variant	NM_001032283.3(TMPO):c.565+1935T>C	Loeys-Dietz syndrome 2 [RCV002886399]	uncertain significance	12	98533773	98533773	Human	1	name
156097251	CV2102978	single nucleotide variant	NM_001032283.3(TMPO):c.565+1808T>C	Loeys-Dietz syndrome 2 [RCV002913264]	likely benign	12	98533646	98533646	Human	1	name
156002560	CV2119090	single nucleotide variant	NM_001032283.3(TMPO):c.565+2085G>A	Loeys-Dietz syndrome 2 [RCV002975253]	uncertain significance	12	98533923	98533923	Human	1	name
156029869	CV2121128	single nucleotide variant	NM_001032283.3(TMPO):c.565+2357C>T	Loeys-Dietz syndrome 2 [RCV002923464]	likely benign	12	98534195	98534195	Human	1	name
156041168	CV2143458	single nucleotide variant	NM_001032283.3(TMPO):c.565+1932G>A	Loeys-Dietz syndrome 2 [RCV002999527]	uncertain significance	12	98533770	98533770	Human	1	name
155934925	CV2149674	single nucleotide variant	NM_001032283.3(TMPO):c.565+2222A>C	Loeys-Dietz syndrome 2 [RCV003013866]	likely benign	12	98534060	98534060	Human	1	name
156289851	CV2155114	single nucleotide variant	NM_001032283.3(TMPO):c.565+1637A>G	Loeys-Dietz syndrome 2 [RCV003009923]	likely benign	12	98533475	98533475	Human	1	name
155967699	CV2180220	single nucleotide variant	NM_001032283.3(TMPO):c.565+1590G>A	Loeys-Dietz syndrome 2 [RCV003033246]	uncertain significance	12	98533428	98533428	Human	1	name
156036104	CV2208326	single nucleotide variant	NM_001032283.3(TMPO):c.565+1014T>G	not specified [RCV004088761]	uncertain significance	12	98532852	98532852	Human		name
156107611	CV2214242	single nucleotide variant	NM_001032283.3(TMPO):c.565+1113C>T	not specified [RCV004086235]	uncertain significance	12	98532951	98532951	Human		name
12907462	CV227349	deletion	NM_001032283.3(TMPO):c.565+1957del	Dilated cardiomyopathy 1T [RCV000490513]	uncertain significance	12	98533795	98533795	Human	1	name
156024418	CV2273866	single nucleotide variant	NM_001032283.3(TMPO):c.565+1671C>G	not specified [RCV004132491]	uncertain significance	12	98533509	98533509	Human		name
11088511	CV230432	single nucleotide variant	NM_001032283.3(TMPO):c.565+2149C>T	Loeys-Dietz syndrome 2 [RCV000645717]\|TMPO-related disorder [RCV003929910]\|not provided [RCV001589137]\|not specified [RCV000213669]	likely benign\|uncertain significance	12	98533987	98533987	Human	2	name , trait , alternate_id
156045841	CV2315557	single nucleotide variant	NM_001032283.3(TMPO):c.565+1582G>A	not specified [RCV004169602]	uncertain significance	12	98533420	98533420	Human		name
243052303	CV2404354	deletion	NM_001032283.3(TMPO):c.565+2304del	not provided [RCV003129380]	uncertain significance	12	98534140	98534140	Human		name
243052333	CV2404360	single nucleotide variant	NM_001032283.3(TMPO):c.565+2495T>A	not provided [RCV003129386]	uncertain significance	12	98534333	98534333	Human		name
11346757	CV241613	single nucleotide variant	NM_001032283.3(TMPO):c.565+1232C>T	Loeys-Dietz syndrome 2 [RCV000229673]\|TMPO-related disorder [RCV003907869]\|not specified [RCV000780777]	likely benign\|uncertain significance	12	98533070	98533070	Human	2	name , trait , alternate_id
11346803	CV241614	single nucleotide variant	NM_001032283.3(TMPO):c.565+2467T>A	Loeys-Dietz syndrome 2 [RCV000229833]	uncertain significance	12	98534305	98534305	Human	1	name
243056527	CV2418810	single nucleotide variant	NM_001032283.3(TMPO):c.565+2138T>G	not specified [RCV003155777]	uncertain significance	12	98533976	98533976	Human		name
329384494	CV2428906	single nucleotide variant	NM_001032283.3(TMPO):c.565+2136T>G	not specified [RCV004247458]	uncertain significance	12	98533974	98533974	Human		name
329363162	CV2428907	single nucleotide variant	NM_001032283.3(TMPO):c.565+1620C>T	not specified [RCV004247459]	uncertain significance	12	98533458	98533458	Human		name
329363165	CV2428908	single nucleotide variant	NM_001032283.3(TMPO):c.565+1713C>G	not provided [RCV004763610]\|not specified [RCV004247460]	uncertain significance	12	98533551	98533551	Human		name
329363168	CV2428909	single nucleotide variant	NM_001032283.3(TMPO):c.565+1729T>G	not specified [RCV004247461]	uncertain significance	12	98533567	98533567	Human		name
329363171	CV2428910	single nucleotide variant	NM_001032283.3(TMPO):c.565+2116A>G	not specified [RCV004247462]	uncertain significance	12	98533954	98533954	Human		name
329384496	CV2428912	single nucleotide variant	NM_001032283.3(TMPO):c.565+1603G>A	not specified [RCV004247464]	uncertain significance	12	98533441	98533441	Human		name
329389727	CV2467993	single nucleotide variant	NM_001032283.3(TMPO):c.565+1798T>C	not specified [RCV004281420]	uncertain significance	12	98533636	98533636	Human		name
329846354	CV2524677	single nucleotide variant	NM_001032283.3(TMPO):c.565+1320A>G	not provided [RCV003228160]	uncertain significance	12	98533158	98533158	Human		name
11550611	CV258750	single nucleotide variant	NM_001032283.3(TMPO):c.565+1396T>C	Cardiovascular phenotype [RCV000251984]	uncertain significance	12	98533234	98533234	Human		name
11543875	CV258756	single nucleotide variant	NM_001032283.3(TMPO):c.565+2311C>T	not specified [RCV004021020]	uncertain significance	12	98534149	98534149	Human		name
11551000	CV258760	single nucleotide variant	NM_001032283.3(TMPO):c.565+1493A>G	Loeys-Dietz syndrome 2 [RCV002059044]\|TMPO-related disorder [RCV003909890]\|not provided [RCV001589307]\|not specified [RCV001290575]	benign\|likely benign	12	98533331	98533331	Human	2	name , trait , alternate_id
401752933	CV2720569	single nucleotide variant	NM_001032283.3(TMPO):c.565+2192G>A	Loeys-Dietz syndrome 2 [RCV003514624]\|not specified [RCV004327954]	likely benign	12	98534030	98534030	Human	1	name
401755559	CV2733412	single nucleotide variant	NM_001032283.3(TMPO):c.565+2446G>A	not specified [RCV004330356]	uncertain significance	12	98534284	98534284	Human		name
401755564	CV2733413	single nucleotide variant	NM_001032283.3(TMPO):c.565+2231T>C	not specified [RCV004330357]	likely benign	12	98534069	98534069	Human		name
401755579	CV2733416	single nucleotide variant	NM_001032283.3(TMPO):c.565+1348C>T	not specified [RCV004330360]	uncertain significance	12	98533186	98533186	Human		name
401755586	CV2733418	single nucleotide variant	NM_001032283.3(TMPO):c.565+1325C>T	not specified [RCV004330362]	likely benign	12	98533163	98533163	Human		name
401755589	CV2733419	single nucleotide variant	NM_001032283.3(TMPO):c.565+1411G>A	not specified [RCV004330363]	uncertain significance	12	98533249	98533249	Human		name
401866966	CV2748796	single nucleotide variant	NM_001032283.3(TMPO):c.565+1242A>G	not specified [RCV003331618]	uncertain significance	12	98533080	98533080	Human		name
401854278	CV2748797	single nucleotide variant	NM_001032283.3(TMPO):c.565+1777G>C	not specified [RCV003331619]	uncertain significance	12	98533615	98533615	Human		name
401887509	CV2771982	single nucleotide variant	NM_001032283.3(TMPO):c.565+1383T>C	not specified [RCV004344668]	uncertain significance	12	98533221	98533221	Human		name
8599125	CV27746	single nucleotide variant	NM_001032283.3(TMPO):c.565+2487C>T	Dilated cardiomyopathy 1T [RCV000013544]\|Hypertrophic cardiomyopathy 25 [RCV001258228]\|Loeys-Dietz syndrome 2 [RCV000231421]\|Primary dilated cardiomyopathy [RCV000172599]\|TMPO-related disorder [RCV003904834]\|not provided [RCV001810855]\|not specified [RCV00003775 ... (more) 1]	pathogenic\|benign\|likely benign\|uncertain significance	12	98534325	98534325	Human	5	name , trait , alternate_id
401880207	CV2783131	single nucleotide variant	NM_001032283.3(TMPO):c.565+1410G>A	Loeys-Dietz syndrome 2 [RCV005104173]\|not specified [RCV004363484]	uncertain significance	12	98533248	98533248	Human	1	name
401867762	CV2787237	single nucleotide variant	NM_001032283.3(TMPO):c.565+2468A>G	not specified [RCV004366223]	likely benign	12	98534306	98534306	Human		name
401867765	CV2787238	single nucleotide variant	NM_001032283.3(TMPO):c.565+2472A>G	not specified [RCV004366224]	uncertain significance	12	98534310	98534310	Human		name
401867772	CV2787239	single nucleotide variant	NM_001032283.3(TMPO):c.565+2325G>A	not specified [RCV004366225]	uncertain significance	12	98534163	98534163	Human		name
401867776	CV2787240	single nucleotide variant	NM_001032283.3(TMPO):c.565+1130A>G	not specified [RCV004366226]	likely benign	12	98532968	98532968	Human		name
401867780	CV2787241	single nucleotide variant	NM_001032283.3(TMPO):c.565+1009T>C	Loeys-Dietz syndrome 2 [RCV005104226]\|not specified [RCV004366227]	uncertain significance	12	98532847	98532847	Human	1	name
401901624	CV2802265	single nucleotide variant	NM_001032283.3(TMPO):c.565+2300T>A	TMPO-related disorder [RCV003393054]	uncertain significance	12	98534138	98534138	Human		name , trait , alternate_id
401929568	CV2816764	single nucleotide variant	NM_001032283.3(TMPO):c.565+2181T>A	not provided [RCV003390279]	uncertain significance	12	98534019	98534019	Human		name
405014432	CV2854616	single nucleotide variant	NM_001032283.3(TMPO):c.565+1725T>A	Loeys-Dietz syndrome 2 [RCV003515276]	uncertain significance	12	98533563	98533563	Human	1	name
405017982	CV2867641	single nucleotide variant	NM_001032283.3(TMPO):c.565+1708C>T	Loeys-Dietz syndrome 2 [RCV003515615]	uncertain significance	12	98533546	98533546	Human	1	name
405003662	CV2881972	single nucleotide variant	NM_001032283.3(TMPO):c.565+1302T>C	Loeys-Dietz syndrome 2 [RCV003514132]	uncertain significance	12	98533140	98533140	Human	1	name
405003671	CV2881991	single nucleotide variant	NM_001032283.3(TMPO):c.565+1069G>A	Loeys-Dietz syndrome 2 [RCV003514133]\|not specified [RCV004877808]	uncertain significance	12	98532907	98532907	Human	1	name
405002855	CV2888070	single nucleotide variant	NM_001032283.3(TMPO):c.565+1108G>A	Loeys-Dietz syndrome 2 [RCV003514058]	uncertain significance	12	98532946	98532946	Human	1	name
405005226	CV2889626	single nucleotide variant	NM_001032283.3(TMPO):c.565+2481A>G	Loeys-Dietz syndrome 2 [RCV003514263]\|not specified [RCV004877810]	uncertain significance	12	98534319	98534319	Human	1	name
405023789	CV2890151	single nucleotide variant	NM_001032283.3(TMPO):c.565+1279G>A	Loeys-Dietz syndrome 2 [RCV003516203]	uncertain significance	12	98533117	98533117	Human	1	name
405025622	CV2898920	single nucleotide variant	NM_001032283.3(TMPO):c.565+2022A>G	Loeys-Dietz syndrome 2 [RCV003516341]	uncertain significance	12	98533860	98533860	Human	1	name
405009016	CV2903561	single nucleotide variant	NM_001032283.3(TMPO):c.565+1378G>A	Loeys-Dietz syndrome 2 [RCV003514776]	uncertain significance	12	98533216	98533216	Human	1	name
405026152	CV2905367	single nucleotide variant	NM_001032283.3(TMPO):c.565+2219T>G	Loeys-Dietz syndrome 2 [RCV003516385]	likely benign	12	98534057	98534057	Human	1	name
405027297	CV2906182	single nucleotide variant	NM_001032283.3(TMPO):c.565+1995G>A	Loeys-Dietz syndrome 2 [RCV003516496]	uncertain significance	12	98533833	98533833	Human	1	name
405020232	CV2928015	single nucleotide variant	NM_001032283.3(TMPO):c.565+2173A>T	Loeys-Dietz syndrome 2 [RCV003515829]	uncertain significance	12	98534011	98534011	Human	1	name
402489581	CV2956503	single nucleotide variant	NM_001032283.3(TMPO):c.565+2044G>T	Loeys-Dietz syndrome 2 [RCV003627042]\|not specified [RCV004371552]	uncertain significance	12	98533882	98533882	Human	1	name
402494471	CV2961056	single nucleotide variant	NM_001032283.3(TMPO):c.565+1532G>T	Loeys-Dietz syndrome 2 [RCV003627600]	likely benign	12	98533370	98533370	Human	1	name
402498634	CV2978358	single nucleotide variant	NM_001032283.3(TMPO):c.565+1312C>G	Loeys-Dietz syndrome 2 [RCV003628030]	uncertain significance	12	98533150	98533150	Human	1	name
402497801	CV2984774	single nucleotide variant	NM_001032283.3(TMPO):c.565+1807C>G	Loeys-Dietz syndrome 2 [RCV003627967]	uncertain significance	12	98533645	98533645	Human	1	name
402501576	CV2996619	single nucleotide variant	NM_001032283.3(TMPO):c.565+1964A>C	Loeys-Dietz syndrome 2 [RCV003628351]	likely benign	12	98533802	98533802	Human	1	name
402501072	CV2999660	single nucleotide variant	NM_001032283.3(TMPO):c.565+1120G>C	Loeys-Dietz syndrome 2 [RCV003628313]	uncertain significance	12	98532958	98532958	Human	1	name
402502655	CV3005000	single nucleotide variant	NM_001032283.3(TMPO):c.565+2229C>G	Loeys-Dietz syndrome 2 [RCV003628476]	uncertain significance	12	98534067	98534067	Human	1	name
402503541	CV3016700	single nucleotide variant	NM_001032283.3(TMPO):c.565+1128G>T	Loeys-Dietz syndrome 2 [RCV003628570]	uncertain significance	12	98532966	98532966	Human	1	name
402481636	CV3017507	single nucleotide variant	NM_001032283.3(TMPO):c.565+1220G>A	Loeys-Dietz syndrome 2 [RCV003626128]\|not specified [RCV004371853]	likely benign	12	98533058	98533058	Human	1	name
402483830	CV3024223	single nucleotide variant	NM_001032283.3(TMPO):c.565+1018C>G	Loeys-Dietz syndrome 2 [RCV003626342]	uncertain significance	12	98532856	98532856	Human	1	name
402483658	CV3030337	single nucleotide variant	NM_001032283.3(TMPO):c.565+2397A>T	Loeys-Dietz syndrome 2 [RCV003626325]	uncertain significance	12	98534235	98534235	Human	1	name
402491323	CV3052718	single nucleotide variant	NM_001032283.3(TMPO):c.565+1372C>T	Loeys-Dietz syndrome 2 [RCV003627250]	uncertain significance	12	98533210	98533210	Human	1	name
402492426	CV3058573	single nucleotide variant	NM_001032283.3(TMPO):c.565+1587G>A	Loeys-Dietz syndrome 2 [RCV003627342]	uncertain significance	12	98533425	98533425	Human	1	name
402492505	CV3065400	single nucleotide variant	NM_001032283.3(TMPO):c.565+2101G>T	Loeys-Dietz syndrome 2 [RCV003627351]	uncertain significance	12	98533939	98533939	Human	1	name
402492718	CV3066000	single nucleotide variant	NM_001032283.3(TMPO):c.565+2170C>G	Loeys-Dietz syndrome 2 [RCV003627374]	uncertain significance	12	98534008	98534008	Human	1	name
402494026	CV3071053	single nucleotide variant	NM_001032283.3(TMPO):c.565+2261G>C	Loeys-Dietz syndrome 2 [RCV003627483]	likely benign	12	98534099	98534099	Human	1	name
405109489	CV3136837	single nucleotide variant	NM_001032283.3(TMPO):c.565+1613C>T	Loeys-Dietz syndrome 2 [RCV003835991]	likely benign	12	98533451	98533451	Human	1	name
405174627	CV3148171	single nucleotide variant	NM_001032283.3(TMPO):c.565+2128G>A	Loeys-Dietz syndrome 2 [RCV003858143]	uncertain significance	12	98533966	98533966	Human	1	name
405233688	CV3157994	single nucleotide variant	NM_001032283.3(TMPO):c.565+2412A>T	Loeys-Dietz syndrome 2 [RCV003865750]	uncertain significance	12	98534250	98534250	Human	1	name
405133814	CV3163830	single nucleotide variant	NM_001032283.3(TMPO):c.565+2292G>A	Loeys-Dietz syndrome 2 [RCV003854818]	uncertain significance	12	98534130	98534130	Human	1	name
405251435	CV3181289	single nucleotide variant	NM_001032283.3(TMPO):c.565+1817T>C	Loeys-Dietz syndrome 2 [RCV003870291]	likely benign	12	98533655	98533655	Human	1	name
11603096	CV318743	single nucleotide variant	NM_001032283.3(TMPO):c.565+1654T>C	Loeys-Dietz syndrome 2 [RCV000688687]	uncertain significance	12	98533492	98533492	Human	1	name
11602117	CV318748	single nucleotide variant	NM_001032283.3(TMPO):c.565+2081A>G	Loeys-Dietz syndrome 2 [RCV002197280]\|not specified [RCV004681428]	likely benign\|uncertain significance	12	98533919	98533919	Human	1	name
11608515	CV318753	single nucleotide variant	NM_001032283.3(TMPO):c.565+2661A>T	not provided [RCV001584733]	likely benign\|uncertain significance	12	98534499	98534499	Human		name
405654784	CV3228333	single nucleotide variant	NM_001032283.3(TMPO):c.565+2392G>A	not specified [RCV003995068]	uncertain significance	12	98534230	98534230	Human		name
11618924	CV327111	single nucleotide variant	NM_001032283.3(TMPO):c.565+1781C>A	not specified [RCV004880507]	likely benign\|uncertain significance	12	98533619	98533619	Human		name
11621178	CV327114	single nucleotide variant	NM_001032283.3(TMPO):c.565+2104A>G	Loeys-Dietz syndrome 2 [RCV003626532]	uncertain significance	12	98533942	98533942	Human	1	name
11662153	CV327117	single nucleotide variant	NM_001032283.3(TMPO):c.565+2137A>G	Loeys-Dietz syndrome 2 [RCV001960203]\|not specified [RCV004042114]	uncertain significance	12	98533975	98533975	Human	1	name
11626033	CV333225	single nucleotide variant	NM_001032283.3(TMPO):c.565+1213G>A	Loeys-Dietz syndrome 2 [RCV000461720]\|not provided [RCV000487398]\|not specified [RCV004021556]	likely benign\|uncertain significance	12	98533051	98533051	Human	1	name
11623145	CV333229	single nucleotide variant	NM_001032283.3(TMPO):c.565+1390A>G	Loeys-Dietz syndrome 2 [RCV001850639]\|not provided [RCV000492839]\|not specified [RCV004021557]	likely benign\|uncertain significance	12	98533228	98533228	Human	1	name
405773198	CV3343425	single nucleotide variant	NM_001032283.3(TMPO):c.565+1647A>G	not specified [RCV004470652]	uncertain significance	12	98533485	98533485	Human		name
405773210	CV3343427	single nucleotide variant	NM_001032283.3(TMPO):c.565+1165G>T	not specified [RCV004470654]	uncertain significance	12	98533003	98533003	Human		name
11652962	CV334943	single nucleotide variant	NM_001032283.3(TMPO):c.565+1282T>C	Loeys-Dietz syndrome 2 [RCV000550918]	uncertain significance	12	98533120	98533120	Human	1	name
405798734	CV3383186	single nucleotide variant	NM_001032283.3(TMPO):c.565+1521C>G	not specified [RCV004508518]	likely benign	12	98533359	98533359	Human		name
405798737	CV3383187	single nucleotide variant	NM_001032283.3(TMPO):c.565+1602G>A	not specified [RCV004508519]	uncertain significance	12	98533440	98533440	Human		name
405798740	CV3383188	single nucleotide variant	NM_001032283.3(TMPO):c.565+1651G>T	not specified [RCV004508520]	uncertain significance	12	98533489	98533489	Human		name
405798743	CV3383189	single nucleotide variant	NM_001032283.3(TMPO):c.565+1661G>A	not specified [RCV004508521]	likely benign	12	98533499	98533499	Human		name
405798746	CV3383190	single nucleotide variant	NM_001032283.3(TMPO):c.565+1663C>T	not specified [RCV004508522]	uncertain significance	12	98533501	98533501	Human		name
405798749	CV3383191	single nucleotide variant	NM_001032283.3(TMPO):c.565+2066A>G	not specified [RCV004508523]	likely benign	12	98533904	98533904	Human		name
405798752	CV3383192	single nucleotide variant	NM_001032283.3(TMPO):c.565+2136T>C	not specified [RCV004508524]	uncertain significance	12	98533974	98533974	Human		name
405798755	CV3383193	single nucleotide variant	NM_001032283.3(TMPO):c.565+2216A>C	not specified [RCV004508525]	uncertain significance	12	98534054	98534054	Human		name
405798758	CV3383194	single nucleotide variant	NM_001032283.3(TMPO):c.565+2230T>G	not specified [RCV004508526]	uncertain significance	12	98534068	98534068	Human		name
405798762	CV3383195	single nucleotide variant	NM_001032283.3(TMPO):c.565+2344C>T	not specified [RCV004508527]	uncertain significance	12	98534182	98534182	Human		name
405798784	CV3383202	single nucleotide variant	NM_001032283.3(TMPO):c.565+1000A>C	not specified [RCV004508534]	uncertain significance	12	98532838	98532838	Human		name
405798793	CV3383204	single nucleotide variant	NM_001032283.3(TMPO):c.565+1054C>G	not specified [RCV004508536]	uncertain significance	12	98532892	98532892	Human		name
405798799	CV3383206	single nucleotide variant	NM_001032283.3(TMPO):c.565+1163G>C	not specified [RCV004508538]	uncertain significance	12	98533001	98533001	Human		name
405798803	CV3383207	single nucleotide variant	NM_001032283.3(TMPO):c.565+1188G>T	not specified [RCV004508539]	uncertain significance	12	98533026	98533026	Human		name
405798806	CV3383208	single nucleotide variant	NM_001032283.3(TMPO):c.565+1197A>G	not specified [RCV004508540]	uncertain significance	12	98533035	98533035	Human		name
405798809	CV3383209	single nucleotide variant	NM_001032283.3(TMPO):c.565+1252T>C	not specified [RCV004508541]	uncertain significance	12	98533090	98533090	Human		name
405798812	CV3383210	single nucleotide variant	NM_001032283.3(TMPO):c.565+1326A>G	not specified [RCV004508542]	uncertain significance	12	98533164	98533164	Human		name
405798816	CV3383211	single nucleotide variant	NM_001032283.3(TMPO):c.565+1330T>G	not specified [RCV004508543]	uncertain significance	12	98533168	98533168	Human		name
405798819	CV3383212	single nucleotide variant	NM_001032283.3(TMPO):c.565+1406T>G	not specified [RCV004508544]	uncertain significance	12	98533244	98533244	Human		name
405798823	CV3383213	single nucleotide variant	NM_001032283.3(TMPO):c.565+1408G>T	not specified [RCV004508545]	uncertain significance	12	98533246	98533246	Human		name
407428140	CV3412356	single nucleotide variant	NM_001032283.3(TMPO):c.565+1494G>A	not provided [RCV004593524]	uncertain significance	12	98533332	98533332	Human		name
407527160	CV3482923	single nucleotide variant	NM_001032283.3(TMPO):c.565+1701A>G	not provided [RCV005235765]\|not specified [RCV004679901]	uncertain significance	12	98533539	98533539	Human		name
407527166	CV3482925	single nucleotide variant	NM_001032283.3(TMPO):c.565+2070G>C	not specified [RCV004679903]	uncertain significance	12	98533908	98533908	Human		name
407527170	CV3482927	single nucleotide variant	NM_001032283.3(TMPO):c.565+1376T>G	not specified [RCV004679904]	likely benign	12	98533214	98533214	Human		name
407527177	CV3482929	single nucleotide variant	NM_001032283.3(TMPO):c.565+2205G>C	not specified [RCV004679906]	uncertain significance	12	98534043	98534043	Human		name
407527185	CV3482931	single nucleotide variant	NM_001032283.3(TMPO):c.565+2354T>C	not specified [RCV004679908]	likely benign	12	98534192	98534192	Human		name
407527188	CV3482932	single nucleotide variant	NM_001032283.3(TMPO):c.565+1020A>G	not specified [RCV004679909]	uncertain significance	12	98532858	98532858	Human		name
407527191	CV3482933	single nucleotide variant	NM_001032283.3(TMPO):c.565+1259C>G	not specified [RCV004679910]	uncertain significance	12	98533097	98533097	Human		name
407527197	CV3482935	single nucleotide variant	NM_001032283.3(TMPO):c.565+2284A>G	Loeys-Dietz syndrome 2 [RCV005103489]\|not specified [RCV004679912]	uncertain significance	12	98534122	98534122	Human	1	name
407527202	CV3482937	single nucleotide variant	NM_001032283.3(TMPO):c.565+2363A>G	not specified [RCV004679914]	likely benign	12	98534201	98534201	Human		name
407527206	CV3482938	single nucleotide variant	NM_001032283.3(TMPO):c.565+2033T>C	not specified [RCV004679915]	likely benign	12	98533871	98533871	Human		name
407527209	CV3482939	single nucleotide variant	NM_001032283.3(TMPO):c.565+1663C>A	not specified [RCV004679916]	uncertain significance	12	98533501	98533501	Human		name
407527212	CV3482940	single nucleotide variant	NM_001032283.3(TMPO):c.565+2067C>T	not specified [RCV004679917]	likely benign	12	98533905	98533905	Human		name
408391993	CV3523528	single nucleotide variant	NM_001032283.3(TMPO):c.565+2148G>A	not provided [RCV004770902]	uncertain significance	12	98533986	98533986	Human		name
408388216	CV3527419	single nucleotide variant	NM_001032283.3(TMPO):c.565+2040C>G	not provided [RCV004773722]\|not specified [RCV005291113]	uncertain significance	12	98533878	98533878	Human		name
596925881	CV3530612	single nucleotide variant	NM_001032283.3(TMPO):c.565+1270A>G	not provided [RCV004778197]	uncertain significance	12	98533108	98533108	Human		name
597800997	CV3610854	single nucleotide variant	NM_001032283.3(TMPO):c.565+1432A>G	not specified [RCV004880474]	uncertain significance	12	98533270	98533270	Human		name
597800995	CV3610855	single nucleotide variant	NM_001032283.3(TMPO):c.565+1678C>T	not specified [RCV004880475]	uncertain significance	12	98533516	98533516	Human		name
597800993	CV3610856	single nucleotide variant	NM_001032283.3(TMPO):c.565+1496A>G	not specified [RCV004880476]	likely benign	12	98533334	98533334	Human		name
597800991	CV3610857	single nucleotide variant	NM_001032283.3(TMPO):c.565+2494A>G	Loeys-Dietz syndrome 2 [RCV005107946]\|not specified [RCV004880477]	uncertain significance	12	98534332	98534332	Human	1	name
597800921	CV3610859	single nucleotide variant	NM_001032283.3(TMPO):c.565+1683T>C	not specified [RCV004880479]	uncertain significance	12	98533521	98533521	Human		name
597800923	CV3610860	single nucleotide variant	NM_001032283.3(TMPO):c.565+1689T>C	not specified [RCV004880480]	uncertain significance	12	98533527	98533527	Human		name
597800925	CV3610861	single nucleotide variant	NM_001032283.3(TMPO):c.565+1540C>T	not specified [RCV004880481]	uncertain significance	12	98533378	98533378	Human		name
597800930	CV3610863	single nucleotide variant	NM_001032283.3(TMPO):c.565+1855A>C	not specified [RCV004880483]	uncertain significance	12	98533693	98533693	Human		name
597800936	CV3610866	single nucleotide variant	NM_001032283.3(TMPO):c.565+1368A>G	not specified [RCV004880486]	uncertain significance	12	98533206	98533206	Human		name
597800949	CV3610872	single nucleotide variant	NM_001032283.3(TMPO):c.565+1727A>C	not specified [RCV004880492]	likely benign	12	98533565	98533565	Human		name
597800969	CV3610881	single nucleotide variant	NM_001032283.3(TMPO):c.565+1056C>G	not specified [RCV004880501]	likely benign	12	98532894	98532894	Human		name
597800971	CV3610882	single nucleotide variant	NM_001032283.3(TMPO):c.565+1116T>C	not specified [RCV004880502]	likely benign	12	98532954	98532954	Human		name
597800974	CV3610883	single nucleotide variant	NM_001032283.3(TMPO):c.565+1132T>A	not specified [RCV004880503]	uncertain significance	12	98532970	98532970	Human		name
597800976	CV3610884	single nucleotide variant	NM_001032283.3(TMPO):c.565+1047G>C	not specified [RCV004880504]	uncertain significance	12	98532885	98532885	Human		name
597800978	CV3610885	single nucleotide variant	NM_001032283.3(TMPO):c.565+1081G>C	not specified [RCV004880505]	uncertain significance	12	98532919	98532919	Human		name
597800982	CV3610887	single nucleotide variant	NM_001032283.3(TMPO):c.565+2344C>G	not specified [RCV004880508]	uncertain significance	12	98534182	98534182	Human		name
597800984	CV3610888	single nucleotide variant	NM_001032283.3(TMPO):c.565+1050A>G	not specified [RCV004880509]	uncertain significance	12	98532888	98532888	Human		name
597800989	CV3610890	single nucleotide variant	NM_001032283.3(TMPO):c.565+2167C>T	not specified [RCV004880511]	uncertain significance	12	98534005	98534005	Human		name
12846863	CV372597	single nucleotide variant	NM_001032283.3(TMPO):c.565+1287A>G	Loeys-Dietz syndrome 2 [RCV001396124]\|not provided [RCV000442458]	likely benign\|uncertain significance	12	98533125	98533125	Human	1	name
12836059	CV372598	single nucleotide variant	NM_001032283.3(TMPO):c.565+1469A>G	Loeys-Dietz syndrome 2 [RCV000645716]\|not provided [RCV000422751]\|not specified [RCV003330676]	benign\|likely benign	12	98533307	98533307	Human	1	name
597656933	CV3731625	single nucleotide variant	NM_001032283.3(TMPO):c.565+1615C>T	not provided [RCV005001806]	uncertain significance	12	98533453	98533453	Human		name
12835684	CV373277	single nucleotide variant	NM_001032283.3(TMPO):c.565+1648A>G	Loeys-Dietz syndrome 2 [RCV002522726]\|not provided [RCV000422113]	uncertain significance	12	98533486	98533486	Human	1	name
12834031	CV373536	single nucleotide variant	NM_001032283.3(TMPO):c.565+2361G>T	Loeys-Dietz syndrome 2 [RCV001865331]\|not provided [RCV000419628]\|not specified [RCV004022326]	likely benign\|uncertain significance	12	98534199	98534199	Human	1	name
597845904	CV3736538	single nucleotide variant	NM_001032283.3(TMPO):c.565+2365G>A	Loeys-Dietz syndrome 2 [RCV005065697]	uncertain significance	12	98534203	98534203	Human	1	name
597852549	CV3737651	single nucleotide variant	NM_001032283.3(TMPO):c.565+1029G>T	Loeys-Dietz syndrome 2 [RCV005066424]\|not specified [RCV005241082]	uncertain significance	12	98532867	98532867	Human	1	name
597964223	CV3754304	single nucleotide variant	NM_001032283.3(TMPO):c.565+1231C>T	Loeys-Dietz syndrome 2 [RCV005082411]	uncertain significance	12	98533069	98533069	Human	1	name
597964287	CV3754319	single nucleotide variant	NM_001032283.3(TMPO):c.565+1153A>T	Loeys-Dietz syndrome 2 [RCV005082426]	uncertain significance	12	98532991	98532991	Human	1	name
12841086	CV375478	single nucleotide variant	NM_001032283.3(TMPO):c.565+1574G>A	Loeys-Dietz syndrome 2 [RCV000808076]\|TMPO-related disorder [RCV004755914]\|not specified [RCV000431954]	likely benign\|uncertain significance	12	98533412	98533412	Human	2	name , trait , alternate_id
12840128	CV375480	single nucleotide variant	NM_001032283.3(TMPO):c.565+1982A>C	Loeys-Dietz syndrome 2 [RCV002522597]\|not provided [RCV001721424]\|not specified [RCV004022474]	likely benign	12	98533820	98533820	Human	1	name
597856289	CV3758772	single nucleotide variant	NM_001032283.3(TMPO):c.565+1954A>G	Loeys-Dietz syndrome 2 [RCV005088732]	uncertain significance	12	98533792	98533792	Human	1	name
597874386	CV3766136	single nucleotide variant	NM_001032283.3(TMPO):c.565+1642T>C	Loeys-Dietz syndrome 2 [RCV005108268]	uncertain significance	12	98533480	98533480	Human	1	name
597907697	CV3781547	single nucleotide variant	NM_001032283.3(TMPO):c.565+2324A>G	Loeys-Dietz syndrome 2 [RCV005128235]	likely benign	12	98534162	98534162	Human	1	name
597887646	CV3787513	single nucleotide variant	NM_001032283.3(TMPO):c.565+2049A>G	Loeys-Dietz syndrome 2 [RCV005125079]	uncertain significance	12	98533887	98533887	Human	1	name
597917396	CV3789565	single nucleotide variant	NM_001032283.3(TMPO):c.565+2016G>A	Loeys-Dietz syndrome 2 [RCV005129660]	uncertain significance	12	98533854	98533854	Human	1	name
597957899	CV3796835	single nucleotide variant	NM_001032283.3(TMPO):c.565+1867A>T	Loeys-Dietz syndrome 2 [RCV005137733]	uncertain significance	12	98533705	98533705	Human	1	name
597950227	CV3797831	single nucleotide variant	NM_001032283.3(TMPO):c.565+1033C>A	Loeys-Dietz syndrome 2 [RCV005135825]	uncertain significance	12	98532871	98532871	Human	1	name
597948687	CV3801221	single nucleotide variant	NM_001032283.3(TMPO):c.565+2256C>G	Loeys-Dietz syndrome 2 [RCV005135401]	uncertain significance	12	98534094	98534094	Human	1	name
597890542	CV3804986	single nucleotide variant	NM_001032283.3(TMPO):c.565+1019T>C	Loeys-Dietz syndrome 2 [RCV005151248]	likely benign	12	98532857	98532857	Human	1	name
597897321	CV3806798	single nucleotide variant	NM_001032283.3(TMPO):c.565+2079C>G	Loeys-Dietz syndrome 2 [RCV005152185]	uncertain significance	12	98533917	98533917	Human	1	name
597922793	CV3808422	single nucleotide variant	NM_001032283.3(TMPO):c.565+2069A>G	Loeys-Dietz syndrome 2 [RCV005155936]	likely benign	12	98533907	98533907	Human	1	name
597959820	CV3811502	single nucleotide variant	NM_001032283.3(TMPO):c.565+1987C>A	Loeys-Dietz syndrome 2 [RCV005163349]	uncertain significance	12	98533825	98533825	Human	1	name
597941432	CV3819276	single nucleotide variant	NM_001032283.3(TMPO):c.565+2162G>C	Loeys-Dietz syndrome 2 [RCV005159086]	uncertain significance	12	98534000	98534000	Human	1	name
597941174	CV3837028	single nucleotide variant	NM_001032283.3(TMPO):c.565+1456A>G	Loeys-Dietz syndrome 2 [RCV005187859]	uncertain significance	12	98533294	98533294	Human	1	name
597963108	CV3841379	single nucleotide variant	NM_001032283.3(TMPO):c.565+1705T>A	Loeys-Dietz syndrome 2 [RCV005193482]\|not specified [RCV005291210]	uncertain significance	12	98533543	98533543	Human	1	name
597944605	CV3847923	duplication	NM_001032283.3(TMPO):c.565+2173dup	Loeys-Dietz syndrome 2 [RCV005188653]	uncertain significance	12	98534010	98534011	Human	1	name
597856622	CV3849744	single nucleotide variant	NM_001032283.3(TMPO):c.565+2458G>C	Loeys-Dietz syndrome 2 [RCV005195253]	uncertain significance	12	98534296	98534296	Human	1	name
597906576	CV3853479	single nucleotide variant	NM_001032283.3(TMPO):c.565+1836G>C	Loeys-Dietz syndrome 2 [RCV005202957]	uncertain significance	12	98533674	98533674	Human	1	name
597886945	CV3855230	single nucleotide variant	NM_001032283.3(TMPO):c.565+2154G>A	Loeys-Dietz syndrome 2 [RCV005199875]	uncertain significance	12	98533992	98533992	Human	1	name
597935452	CV3863684	single nucleotide variant	NM_001032283.3(TMPO):c.565+1452T>C	not provided [RCV005207497]	uncertain significance	12	98533290	98533290	Human		name
598252902	CV3914152	single nucleotide variant	NM_001032283.3(TMPO):c.565+2221C>T	not specified [RCV005278160]	uncertain significance	12	98534059	98534059	Human		name
598252909	CV3914153	single nucleotide variant	NM_001032283.3(TMPO):c.565+2077T>C	not specified [RCV005278161]	uncertain significance	12	98533915	98533915	Human		name
598228057	CV3914155	single nucleotide variant	NM_001032283.3(TMPO):c.565+2040C>T	not specified [RCV005294685]	likely benign	12	98533878	98533878	Human		name
598228063	CV3914156	single nucleotide variant	NM_001032283.3(TMPO):c.565+1356C>A	not specified [RCV005294686]	uncertain significance	12	98533194	98533194	Human		name
598228069	CV3914157	single nucleotide variant	NM_001032283.3(TMPO):c.565+1423G>A	not specified [RCV005294687]	uncertain significance	12	98533261	98533261	Human		name
598228075	CV3914158	single nucleotide variant	NM_001032283.3(TMPO):c.565+1899T>C	not specified [RCV005294688]	likely benign	12	98533737	98533737	Human		name
598228082	CV3934897	single nucleotide variant	NM_001032283.3(TMPO):c.565+1699G>T	not specified [RCV005294689]	uncertain significance	12	98533537	98533537	Human		name
598228090	CV3934899	single nucleotide variant	NM_001032283.3(TMPO):c.565+1358G>T	not specified [RCV005294690]	likely benign	12	98533196	98533196	Human		name
598228095	CV3934900	single nucleotide variant	NM_001032283.3(TMPO):c.565+1653A>G	not specified [RCV005294691]	uncertain significance	12	98533491	98533491	Human		name
598228101	CV3934901	single nucleotide variant	NM_001032283.3(TMPO):c.565+1739G>A	not specified [RCV005294692]	likely benign	12	98533577	98533577	Human		name
598252927	CV3934902	single nucleotide variant	NM_001032283.3(TMPO):c.565+2118T>G	not specified [RCV005278164]	uncertain significance	12	98533956	98533956	Human		name
12884420	CV399090	single nucleotide variant	NM_001032283.3(TMPO):c.565+1872A>G	Loeys-Dietz syndrome 2 [RCV000463407]	uncertain significance	12	98533710	98533710	Human	1	name
12891009	CV399601	single nucleotide variant	NM_001032283.3(TMPO):c.565+2248G>A	Loeys-Dietz syndrome 2 [RCV000475759]	uncertain significance	12	98534086	98534086	Human	1	name
12884073	CV399857	single nucleotide variant	NM_001032283.3(TMPO):c.565+1277G>A	Loeys-Dietz syndrome 2 [RCV001446947]\|not provided [RCV000462800]\|not specified [RCV004023026]	likely benign	12	98533115	98533115	Human	1	name
12890972	CV399859	single nucleotide variant	NM_001032283.3(TMPO):c.565+1575G>A	Loeys-Dietz syndrome 2 [RCV000475688]	uncertain significance	12	98533413	98533413	Human	1	name
12887324	CV399862	single nucleotide variant	NM_001032283.3(TMPO):c.565+1748T>A	Loeys-Dietz syndrome 2 [RCV000468859]\|not provided [RCV001696811]\|not specified [RCV004023025]	likely benign	12	98533586	98533586	Human	1	name
12892742	CV404811	single nucleotide variant	NM_001032283.3(TMPO):c.565+1717G>C	Dilated cardiomyopathy 1T [RCV000477844]\|not specified [RCV004023100]	uncertain significance	12	98533555	98533555	Human	1	name
12913103	CV421949	single nucleotide variant	NM_001032283.3(TMPO):c.565+1183C>T	Loeys-Dietz syndrome 2 [RCV002524046]\|not provided [RCV000493392]	uncertain significance	12	98533021	98533021	Human	1	name
13212516	CV426029	single nucleotide variant	NM_001032283.3(TMPO):c.565+1626C>G	Loeys-Dietz syndrome 2 [RCV002524101]\|not provided [RCV000498923]\|not specified [RCV004023348]	pathogenic\|uncertain significance	12	98533464	98533464	Human	1	name
13485538	CV445105	duplication	NM_001032283.3(TMPO):c.565+1664dup	Loeys-Dietz syndrome 2 [RCV005091227]\|not provided [RCV000522634]	uncertain significance	12	98533501	98533502	Human	1	name
13484757	CV445106	single nucleotide variant	NM_001032283.3(TMPO):c.565+2301A>G	Loeys-Dietz syndrome 2 [RCV000810881]\|not provided [RCV000522424]	uncertain significance	12	98534139	98534139	Human	1	name
8603064	CV45535	single nucleotide variant	NM_001032283.3(TMPO):c.565+1853G>C	Cardiomyopathy [RCV000030556]\|Loeys-Dietz syndrome 2 [RCV000458709]\|not provided [RCV004707861]\|not specified [RCV000037742]	benign\|likely benign	12	98533691	98533691	Human	3	name
8603065	CV45536	single nucleotide variant	NM_001032283.3(TMPO):c.565+1132T>G	Cardiomyopathy [RCV000030557]\|Loeys-Dietz syndrome 2 [RCV000467116]\|not provided [RCV004706450]\|not specified [RCV000037754]	benign\|likely benign	12	98532970	98532970	Human	3	name
8603066	CV45537	single nucleotide variant	NM_001032283.3(TMPO):c.565+1296T>G	Cardiomyopathy [RCV000030558]\|Loeys-Dietz syndrome 2 [RCV000463882]\|not provided [RCV004706451]\|not specified [RCV000037756]	benign\|likely benign	12	98533134	98533134	Human	3	name
8603067	CV45538	single nucleotide variant	NM_001032283.3(TMPO):c.565+1369C>G	Cardiomyopathy [RCV000030559]\|Loeys-Dietz syndrome 2 [RCV000456911]\|not provided [RCV004706452]\|not specified [RCV000037760]	benign\|likely benign	12	98533207	98533207	Human	3	name
13477681	CV462539	single nucleotide variant	NM_001032283.3(TMPO):c.565+1374A>C	Loeys-Dietz syndrome 2 [RCV000549718]	uncertain significance	12	98533212	98533212	Human	1	name
13496700	CV462541	single nucleotide variant	NM_001032283.3(TMPO):c.565+1774C>G	Loeys-Dietz syndrome 2 [RCV000560544]	uncertain significance	12	98533612	98533612	Human	1	name
13496815	CV462543	single nucleotide variant	NM_001032283.3(TMPO):c.565+2387G>A	Loeys-Dietz syndrome 2 [RCV000538101]\|not specified [RCV000780776]	benign\|likely benign\|uncertain significance	12	98534225	98534225	Human	1	name
13498699	CV462828	single nucleotide variant	NM_001032283.3(TMPO):c.565+1317C>T	Loeys-Dietz syndrome 2 [RCV000539377]\|not specified [RCV004024076]	uncertain significance	12	98533155	98533155	Human	1	name
13468513	CV462831	single nucleotide variant	NM_001032283.3(TMPO):c.565+1958G>T	Loeys-Dietz syndrome 2 [RCV000544549]\|not specified [RCV000611758]	likely benign	12	98533796	98533796	Human	1	name
13472229	CV463408	single nucleotide variant	NM_001032283.3(TMPO):c.565+1304T>A	Loeys-Dietz syndrome 2 [RCV000524814]\|not provided [RCV001550586]\|not specified [RCV002222548]	benign\|likely benign	12	98533142	98533142	Human	1	name
13503893	CV463409	single nucleotide variant	NM_001032283.3(TMPO):c.565+2399T>A	Loeys-Dietz syndrome 2 [RCV000548419]\|not specified [RCV004024074]	likely benign	12	98534237	98534237	Human	1	name
13506306	CV481138	single nucleotide variant	NM_001032283.3(TMPO):c.565+1165G>C	Loeys-Dietz syndrome 2 [RCV001308233]\|Primary dilated cardiomyopathy [RCV000577972]\|not specified [RCV004024591]	uncertain significance	12	98533003	98533003	Human	2	name
13521456	CV487620	single nucleotide variant	NM_001032283.3(TMPO):c.565+2026T>C	Loeys-Dietz syndrome 2 [RCV002530929]\|not provided [RCV000589332]	uncertain significance	12	98533864	98533864	Human	1	name
13531123	CV504127	single nucleotide variant	NM_001032283.3(TMPO):c.565+1413A>G	Loeys-Dietz syndrome 2 [RCV000864090]\|not provided [RCV001698026]	likely benign	12	98533251	98533251	Human	1	name
13542043	CV504128	single nucleotide variant	NM_001032283.3(TMPO):c.565+1997G>A	Loeys-Dietz syndrome 2 [RCV002066840]\|not specified [RCV000616985]	likely benign	12	98533835	98533835	Human	1	name
13531477	CV504437	single nucleotide variant	NM_001032283.3(TMPO):c.565+2450A>G	not specified [RCV000601063]	likely benign	12	98534288	98534288	Human		name
13526425	CV504690	single nucleotide variant	NM_001032283.3(TMPO):c.565+1298G>A	Loeys-Dietz syndrome 2 [RCV000865564]\|not provided [RCV001704720]\|not specified [RCV004024906]	benign\|likely benign	12	98533136	98533136	Human	1	name
13532940	CV504691	single nucleotide variant	NM_001032283.3(TMPO):c.565+1356C>T	not specified [RCV000606953]	likely benign	12	98533194	98533194	Human		name
13537129	CV504693	single nucleotide variant	NM_001032283.3(TMPO):c.565+1499A>G	Loeys-Dietz syndrome 2 [RCV003767763]\|not specified [RCV000609968]	likely benign	12	98533337	98533337	Human	1	name
13539454	CV505103	single nucleotide variant	NM_001032283.3(TMPO):c.565+2135A>G	Loeys-Dietz syndrome 2 [RCV001209623]\|not specified [RCV000613304]	likely benign\|uncertain significance	12	98533973	98533973	Human	1	name
13527480	CV510410	single nucleotide variant	NM_001032283.3(TMPO):c.565+1392A>G	not specified [RCV004025037]	uncertain significance	12	98533230	98533230	Human		name
13617855	CV527425	single nucleotide variant	NM_001032283.3(TMPO):c.565+1467C>T	Loeys-Dietz syndrome 2 [RCV000645710]	uncertain significance	12	98533305	98533305	Human	1	name
13617850	CV527429	single nucleotide variant	NM_001032283.3(TMPO):c.565+2102C>A	Loeys-Dietz syndrome 2 [RCV000645707]	uncertain significance	12	98533940	98533940	Human	1	name
13617858	CV527711	single nucleotide variant	NM_001032283.3(TMPO):c.565+2092C>A	Loeys-Dietz syndrome 2 [RCV000645712]\|not provided [RCV000786223]\|not specified [RCV004025680]	uncertain significance	12	98533930	98533930	Human	1	name
13617861	CV527958	single nucleotide variant	NM_001032283.3(TMPO):c.565+1078A>G	Loeys-Dietz syndrome 2 [RCV000645713]	uncertain significance	12	98532916	98532916	Human	1	name
13617864	CV527968	single nucleotide variant	NM_001032283.3(TMPO):c.565+2236C>G	Loeys-Dietz syndrome 2 [RCV000645715]	uncertain significance	12	98534074	98534074	Human	1	name
13617863	CV527970	single nucleotide variant	NM_001032283.3(TMPO):c.565+2253C>T	Loeys-Dietz syndrome 2 [RCV000645714]	uncertain significance	12	98534091	98534091	Human	1	name
13705373	CV536858	single nucleotide variant	NM_001032283.3(TMPO):c.565+2347T>C	Loeys-Dietz syndrome 2 [RCV003514399]\|not provided [RCV000657865]\|not specified [RCV004678787]	uncertain significance	12	98534185	98534185	Human	1	name
8607503	CV53829	single nucleotide variant	NM_001032283.3(TMPO):c.565+1665A>G	Dilated cardiomyopathy 1T [RCV000625187]\|Loeys-Dietz syndrome 2 [RCV001082038]\|not provided [RCV001811265]\|not specified [RCV000037741]	benign\|likely benign	12	98533503	98533503	Human	2	name
8607504	CV53830	single nucleotide variant	NM_001032283.3(TMPO):c.565+1890T>G	Loeys-Dietz syndrome 2 [RCV000232151]\|not provided [RCV004706466]\|not specified [RCV000037743]	benign\|likely benign	12	98533728	98533728	Human	1	name
8607505	CV53831	single nucleotide variant	NM_001032283.3(TMPO):c.565+1907A>G	Loeys-Dietz syndrome 2 [RCV002513484]\|not specified [RCV000037744]	likely benign	12	98533745	98533745	Human	1	name
8607506	CV53832	single nucleotide variant	NM_001032283.3(TMPO):c.565+2042A>C	not specified [RCV000037745]	likely benign	12	98533880	98533880	Human		name
8607507	CV53833	single nucleotide variant	NM_001032283.3(TMPO):c.565+2051T>A	Loeys-Dietz syndrome 2 [RCV000225854]\|not provided [RCV004706467]\|not specified [RCV000037746]	benign\|likely benign	12	98533889	98533889	Human	1	name
8607508	CV53834	single nucleotide variant	NM_001032283.3(TMPO):c.565+2214C>G	Loeys-Dietz syndrome 2 [RCV001509969]\|not provided [RCV004707867]\|not specified [RCV000037747]	benign\|likely benign	12	98534052	98534052	Human	1	name
8607509	CV53835	single nucleotide variant	NM_001032283.3(TMPO):c.565+2296C>T	not specified [RCV000037748]	uncertain significance	12	98534134	98534134	Human		name
8607510	CV53836	single nucleotide variant	NM_001032283.3(TMPO):c.565+2368G>A	Inborn genetic diseases [RCV002310999]\|Loeys-Dietz syndrome 2 [RCV001852787]\|not provided [RCV001703885]\|not specified [RCV000037749]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	98534206	98534206	Human	2	name
8607511	CV53837	single nucleotide variant	NM_001032283.3(TMPO):c.565+2376C>T	Arrhythmogenic right ventricular cardiomyopathy [RCV000852685]\|Loeys-Dietz syndrome 2 [RCV001087301]\|Long QT syndrome [RCV003318343]\|not provided [RCV000839110]\|not specified [RCV000037750]	benign\|likely benign\|uncertain significance	12	98534214	98534214	Human	4	name
8607514	CV53840	single nucleotide variant	NM_001032283.3(TMPO):c.565+1240G>A	Loeys-Dietz syndrome 2 [RCV001081889]\|TMPO-related disorder [RCV003924920]\|not provided [RCV000172596]\|not specified [RCV000037755]	benign\|likely benign	12	98533078	98533078	Human	2	name , trait , alternate_id
8607516	CV53842	single nucleotide variant	NM_001032283.3(TMPO):c.565+1301A>G	Loeys-Dietz syndrome 2 [RCV000645711]\|not specified [RCV000037758]	likely benign	12	98533139	98533139	Human	1	name
8607517	CV53843	single nucleotide variant	NM_001032283.3(TMPO):c.565+1344G>C	Loeys-Dietz syndrome 2 [RCV000227357]\|not provided [RCV004707868]\|not specified [RCV000037759]	benign\|likely benign	12	98533182	98533182	Human	1	name
13822112	CV565775	single nucleotide variant	NM_001032283.3(TMPO):c.565+1449A>G	Loeys-Dietz syndrome 2 [RCV000696856]\|not provided [RCV001756211]\|not specified [RCV004026388]	uncertain significance	12	98533287	98533287	Human	1	name
13821452	CV565779	single nucleotide variant	NM_001032283.3(TMPO):c.565+1911A>G	Loeys-Dietz syndrome 2 [RCV000695906]	uncertain significance	12	98533749	98533749	Human	1	name
13809894	CV565781	single nucleotide variant	NM_001032283.3(TMPO):c.565+2409T>G	Loeys-Dietz syndrome 2 [RCV000687977]\|not specified [RCV004026281]	uncertain significance	12	98534247	98534247	Human	1	name
13812220	CV567093	single nucleotide variant	NM_001032283.3(TMPO):c.565+1107C>T	Loeys-Dietz syndrome 2 [RCV000689296]\|not specified [RCV004026323]	uncertain significance	12	98532945	98532945	Human	1	name
13802791	CV567096	single nucleotide variant	NM_001032283.3(TMPO):c.565+2196A>G	Loeys-Dietz syndrome 2 [RCV000698601]\|not specified [RCV004026450]	uncertain significance	12	98534034	98534034	Human	1	name
13816787	CV567097	single nucleotide variant	NM_001032283.3(TMPO):c.565+2247C>T	Loeys-Dietz syndrome 2 [RCV000692559]\|not provided [RCV001771958]\|not specified [RCV004025121]	likely benign\|uncertain significance	12	98534085	98534085	Human	1	name
13811611	CV568207	single nucleotide variant	NM_001032283.3(TMPO):c.565+2172C>T	Loeys-Dietz syndrome 2 [RCV000703152]	uncertain significance	12	98534010	98534010	Human	1	name
13801974	CV572154	single nucleotide variant	NM_001032283.3(TMPO):c.565+2346A>G	Loeys-Dietz syndrome 2 [RCV000698079]\|not specified [RCV004026428]	uncertain significance	12	98534184	98534184	Human	1	name
14721031	CV641507	single nucleotide variant	NM_001032283.3(TMPO):c.565+1053A>G	Loeys-Dietz syndrome 2 [RCV000813274]\|not specified [RCV004678840]	uncertain significance	12	98532891	98532891	Human	1	name
14704292	CV641508	single nucleotide variant	NM_001032283.3(TMPO):c.565+1114C>T	Loeys-Dietz syndrome 2 [RCV000807713]\|not specified [RCV004028625]	uncertain significance	12	98532952	98532952	Human	1	name
14725593	CV641509	single nucleotide variant	NM_001032283.3(TMPO):c.565+1310G>C	Loeys-Dietz syndrome 2 [RCV000815281]\|not provided [RCV002462180]\|not specified [RCV004028846]	likely benign\|uncertain significance	12	98533148	98533148	Human	1	name
14739488	CV641510	single nucleotide variant	NM_001032283.3(TMPO):c.565+1320A>C	Loeys-Dietz syndrome 2 [RCV000804962]	uncertain significance	12	98533158	98533158	Human	1	name
14724806	CV641511	single nucleotide variant	NM_001032283.3(TMPO):c.565+2353A>G	Loeys-Dietz syndrome 2 [RCV000814935]	uncertain significance	12	98534191	98534191	Human	1	name
14710109	CV656192	single nucleotide variant	NM_001032283.3(TMPO):c.565+1979T>C	Loeys-Dietz syndrome 2 [RCV001410391]\|not provided [RCV000827612]\|not specified [RCV004029205]	likely benign	12	98533817	98533817	Human	1	name
15014967	CV679458	single nucleotide variant	NM_001032283.3(TMPO):c.565+1968G>A	Hypertrophic cardiomyopathy [RCV000852684]\|Loeys-Dietz syndrome 2 [RCV002538868]\|not specified [RCV004029272]	likely benign\|uncertain significance	12	98533806	98533806	Human	3	name
15156945	CV688092	single nucleotide variant	NM_001032283.3(TMPO):c.565+1421A>G	Loeys-Dietz syndrome 2 [RCV001515534]\|not specified [RCV004027721]	benign\|likely benign	12	98533259	98533259	Human	1	name
15161812	CV688093	single nucleotide variant	NM_001032283.3(TMPO):c.565+1616T>C	Loeys-Dietz syndrome 2 [RCV001397893]\|not specified [RCV004027751]	likely benign	12	98533454	98533454	Human	1	name
15114802	CV769365	single nucleotide variant	NM_001032283.3(TMPO):c.565+1004G>A	not provided [RCV000939379]	likely benign	12	98532842	98532842	Human		name
15149038	CV769366	single nucleotide variant	NM_001032283.3(TMPO):c.565+1127C>G	Loeys-Dietz syndrome 2 [RCV001496311]\|not specified [RCV004029765]	likely benign	12	98532965	98532965	Human	1	name
15198684	CV769367	single nucleotide variant	NM_001032283.3(TMPO):c.565+2402T>C	Loeys-Dietz syndrome 2 [RCV000934886]	likely benign	12	98534240	98534240	Human	1	name
15107581	CV784500	single nucleotide variant	NM_001032283.3(TMPO):c.565+2222A>G	not provided [RCV000976861]	likely benign	12	98534060	98534060	Human		name
26899593	CV840477	single nucleotide variant	NM_001032283.3(TMPO):c.565+1048G>A	Loeys-Dietz syndrome 2 [RCV001071009]	uncertain significance	12	98532886	98532886	Human	1	name
26885608	CV840478	single nucleotide variant	NM_001032283.3(TMPO):c.565+1260A>C	Loeys-Dietz syndrome 2 [RCV001065544]	uncertain significance	12	98533098	98533098	Human	1	name
26905488	CV840479	single nucleotide variant	NM_001032283.3(TMPO):c.565+1275A>G	Loeys-Dietz syndrome 2 [RCV001051308]\|not specified [RCV003117725]	uncertain significance	12	98533113	98533113	Human	1	name
26906610	CV840480	single nucleotide variant	NM_001032283.3(TMPO):c.565+1297C>T	Loeys-Dietz syndrome 2 [RCV001037550]\|not provided [RCV001759729]\|not specified [RCV004031035]	uncertain significance	12	98533135	98533135	Human	1	name
26888056	CV840481	single nucleotide variant	NM_001032283.3(TMPO):c.565+1471C>T	Loeys-Dietz syndrome 2 [RCV001066943]\|not specified [RCV004030634]	uncertain significance	12	98533309	98533309	Human	1	name
26889209	CV840482	single nucleotide variant	NM_001032283.3(TMPO):c.565+1878G>A	Loeys-Dietz syndrome 2 [RCV001045543]	uncertain significance	12	98533716	98533716	Human	1	name
26887189	CV840483	single nucleotide variant	NM_001032283.3(TMPO):c.565+2019C>A	Loeys-Dietz syndrome 2 [RCV001066525]\|not specified [RCV005286304]	uncertain significance	12	98533857	98533857	Human	1	name
26916701	CV840484	single nucleotide variant	NM_001032283.3(TMPO):c.565+2260C>T	Loeys-Dietz syndrome 2 [RCV001056508]\|not specified [RCV004031783]	uncertain significance	12	98534098	98534098	Human	1	name
34896396	CV917125	single nucleotide variant	NM_001032283.3(TMPO):c.565+1819A>G	Loeys-Dietz syndrome 2 [RCV005057074]\|not specified [RCV001193763]	uncertain significance	12	98533657	98533657	Human	1	name
34888366	CV917126	single nucleotide variant	NM_001032283.3(TMPO):c.565+2178G>A	Loeys-Dietz syndrome 2 [RCV005094033]\|not specified [RCV001194425]	uncertain significance	12	98534016	98534016	Human	1	name
38493700	CV926789	single nucleotide variant	NM_001032283.3(TMPO):c.565+1128G>A	Loeys-Dietz syndrome 2 [RCV001224453]\|not provided [RCV005051873]	uncertain significance	12	98532966	98532966	Human	1	name
38491885	CV926790	single nucleotide variant	NM_001032283.3(TMPO):c.565+1327T>C	Loeys-Dietz syndrome 2 [RCV001223153]	uncertain significance	12	98533165	98533165	Human	1	name
38489947	CV936321	single nucleotide variant	NM_001032283.3(TMPO):c.565+1257T>C	Loeys-Dietz syndrome 2 [RCV001210437]	uncertain significance	12	98533095	98533095	Human	1	name
38460849	CV936322	single nucleotide variant	NM_001032283.3(TMPO):c.565+2280A>G	Loeys-Dietz syndrome 2 [RCV001211910]	uncertain significance	12	98534118	98534118	Human	1	name
38495377	CV948244	single nucleotide variant	NM_001032283.3(TMPO):c.565+1104A>C	Loeys-Dietz syndrome 2 [RCV001225675]\|not specified [RCV004032547]	uncertain significance	12	98532942	98532942	Human	1	name
38475211	CV948245	single nucleotide variant	NM_001032283.3(TMPO):c.565+1318A>G	Loeys-Dietz syndrome 2 [RCV001232526]\|not specified [RCV004033171]	uncertain significance	12	98533156	98533156	Human	1	name
38458563	CV957010	single nucleotide variant	NM_001032283.3(TMPO):c.565+1623C>G	Loeys-Dietz syndrome 2 [RCV001246367]\|not specified [RCV004034862]	uncertain significance	12	98533461	98533461	Human	1	name
38498387	CV957011	single nucleotide variant	NM_001032283.3(TMPO):c.565+1662T>G	Loeys-Dietz syndrome 2 [RCV001243793]\|Long QT syndrome [RCV003318398]\|not provided [RCV003393910]\|not specified [RCV004034762]	likely benign\|uncertain significance	12	98533500	98533500	Human	3	name
38491864	CV957012	single nucleotide variant	NM_001032283.3(TMPO):c.565+2381G>C	Loeys-Dietz syndrome 2 [RCV001239717]\|not specified [RCV004034625]	uncertain significance	12	98534219	98534219	Human	1	name
41406053	CV980180	single nucleotide variant	NM_001032283.3(TMPO):c.565+1548A>G	Loeys-Dietz syndrome 2 [RCV002537905]\|not specified [RCV001280684]	uncertain significance	12	98533386	98533386	Human	1	name
126728958	CV985632	single nucleotide variant	NM_001032283.3(TMPO):c.565+1782G>A	Loeys-Dietz syndrome 2 [RCV002538425]\|not specified [RCV001293596]	likely benign\|uncertain significance	12	98533620	98533620	Human	1	name
126741968	CV995455	single nucleotide variant	NM_001032283.3(TMPO):c.565+1033C>T	Loeys-Dietz syndrome 2 [RCV001305489]\|not specified [RCV004036353]	likely benign\|uncertain significance	12	98532871	98532871	Human	1	name
126741167	CV995456	single nucleotide variant	NM_001032283.3(TMPO):c.565+1805A>C	Loeys-Dietz syndrome 2 [RCV001295864]\|not specified [RCV004036016]	uncertain significance	12	98533643	98533643	Human	1	name
126739955	CV995457	single nucleotide variant	NM_001032283.3(TMPO):c.565+2197T>C	Loeys-Dietz syndrome 2 [RCV001295691]	uncertain significance	12	98534035	98534035	Human	1	name
126736267	CV995458	single nucleotide variant	NM_001032283.3(TMPO):c.565+2340C>G	Loeys-Dietz syndrome 2 [RCV001304718]	uncertain significance	12	98534178	98534178	Human	1	name
126768482	CV1010723	microsatellite	NM_001032283.3(TMPO):c.565+1813TC[2]	Loeys-Dietz syndrome 2 [RCV001321389]	uncertain significance	12	98533651	98533652	Human		name
126746634	CV1031219	microsatellite	NM_001032283.3(TMPO):c.565+1474CT[2]	Loeys-Dietz syndrome 2 [RCV001337351]	uncertain significance	12	98533312	98533313	Human		name
10057596	CV198461	single nucleotide variant	NM_003276.2(TMPO):c.68A>G (p.Asn23Ser)	not provided [RCV000183971]	uncertain significance	12	98515935	98515935	Human		name
11550772	CV258753	single nucleotide variant	NM_001032283.3(TMPO):c.24C>T (p.Pro8=)	Cardiovascular phenotype [RCV000252187]	likely benign	12	98515891	98515891	Human		name
597851295	CV3746996	single nucleotide variant	NM_001032283.3(TMPO):c.27G>C (p.Ser9=)	Loeys-Dietz syndrome 2 [RCV005060624]	likely benign	12	98515894	98515894	Human	1	name
598228045	CV3914151	single nucleotide variant	NM_001032283.3(TMPO):c.12C>T (p.Phe4=)	not specified [RCV005294683]	likely benign	12	98515879	98515879	Human		name
15118998	CV684378	single nucleotide variant	NM_001032283.3(TMPO):c.13C>T (p.Leu5=)	Loeys-Dietz syndrome 2 [RCV000861422]\|not provided [RCV001619844]\|not specified [RCV004029296]	benign\|likely benign	12	98515880	98515880	Human	1	name
150410179	CV1177679	duplication	NM_001032283.3(TMPO):c.990+66_990+67dup	not provided [RCV001546507]	likely benign	12	98545125	98545126	Human		name
150408319	CV1194735	deletion	NM_001032283.3(TMPO):c.991-12_991-11del	not provided [RCV001572596]	likely benign	12	98546346	98546347	Human		name
150467292	CV1277546	duplication	NM_001032283.3(TMPO):c.990+84_990+86dup	not provided [RCV001710841]	benign	12	98545129	98545130	Human		name
152090814	CV1528575	single nucleotide variant	NM_001032283.3(TMPO):c.48G>A (p.Leu16=)	Loeys-Dietz syndrome 2 [RCV002094148]	likely benign	12	98515915	98515915	Human	1	name
152082651	CV1589618	single nucleotide variant	NM_001032283.3(TMPO):c.51G>A (p.Lys17=)	Loeys-Dietz syndrome 2 [RCV002112964]\|not specified [RCV004045881]	likely benign	12	98515918	98515918	Human	1	name
152092580	CV1596180	single nucleotide variant	NM_001032283.3(TMPO):c.66C>T (p.Ala22=)	Loeys-Dietz syndrome 2 [RCV002077908]	likely benign	12	98515933	98515933	Human	1	name
155664227	CV1786474	single nucleotide variant	NM_001032283.3(TMPO):c.36A>G (p.Thr12=)	Loeys-Dietz syndrome 2 [RCV003626713]\|not specified [RCV004049698]	likely benign	12	98515903	98515903	Human	1	name
155707881	CV1798750	single nucleotide variant	NM_001032283.3(TMPO):c.46T>C (p.Leu16=)	not specified [RCV004052006]	likely benign	12	98515913	98515913	Human		name
155690932	CV1825076	single nucleotide variant	NM_001032283.3(TMPO):c.93G>A (p.Glu31=)	not specified [RCV004056770]	likely benign	12	98515960	98515960	Human		name
156359269	CV1891475	single nucleotide variant	NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)	Loeys-Dietz syndrome 2 [RCV003091590]	uncertain significance	12	98515872	98515872	Human	1	name
156084849	CV1993071	single nucleotide variant	NM_001032283.3(TMPO):c.63C>A (p.Val21=)	Loeys-Dietz syndrome 2 [RCV002639020]	likely benign	12	98515930	98515930	Human	1	name
11611027	CV318742	single nucleotide variant	NM_001032283.3(TMPO):c.81G>T (p.Leu27=)	Loeys-Dietz syndrome 2 [RCV000953852]	benign\|uncertain significance	12	98515948	98515948	Human	1	name
597800938	CV3610867	single nucleotide variant	NM_001032283.3(TMPO):c.33G>A (p.Leu11=)	not specified [RCV004880487]	likely benign	12	98515900	98515900	Human		name
597800963	CV3610878	single nucleotide variant	NM_001032283.3(TMPO):c.81G>C (p.Leu27=)	not specified [RCV004880498]	likely benign	12	98515948	98515948	Human		name
8606516	CV52863	deletion	NM_001032283.3(TMPO):c.991-14_991-11del	not specified [RCV000036644]	uncertain significance	12	98546342	98546345	Human		name
8607515	CV53841	single nucleotide variant	NM_001032283.3(TMPO):c.87C>T (p.Ala29=)	Loeys-Dietz syndrome 2 [RCV000233654]\|not provided [RCV004706468]\|not specified [RCV000037757]	benign\|likely benign	12	98515954	98515954	Human	1	name
8634948	CV90170	single nucleotide variant	NM_003276.2(TMPO):c.2031A>T (p.Thr677=)	Malignant melanoma [RCV000070267]	not provided	12	98534288	98534288	Human		name
34896399	CV917124	single nucleotide variant	NM_001032283.3(TMPO):c.72T>C (p.Asn24=)	Loeys-Dietz syndrome 2 [RCV002069235]\|not specified [RCV001193764]	likely benign	12	98515939	98515939	Human	1	name
38473623	CV936319	single nucleotide variant	NM_001032283.3(TMPO):c.84G>A (p.Pro28=)	Loeys-Dietz syndrome 2 [RCV001203525]\|not specified [RCV004033577]	likely benign\|uncertain significance	12	98515951	98515951	Human	1	name
127331114	CV1123046	single nucleotide variant	NM_001032283.3(TMPO):c.219C>G (p.Pro73=)	Loeys-Dietz syndrome 2 [RCV001471334]\|not specified [RCV004037112]	likely benign	12	98516086	98516086	Human	1	name
127314155	CV1143914	single nucleotide variant	NM_001032283.3(TMPO):c.183G>A (p.Gly61=)	Loeys-Dietz syndrome 2 [RCV001502395]	likely benign	12	98516050	98516050	Human	1	name
150515179	CV1217406	insertion	NM_001032283.3(TMPO):c.990+72_990+73insG	not provided [RCV001608311]	benign	12	98545133	98545134	Human		name
151831888	CV1377964	single nucleotide variant	NM_001032283.3(TMPO):c.234C>G (p.Gly78=)	Loeys-Dietz syndrome 2 [RCV002014386]\|not specified [RCV004046703]	likely benign\|uncertain significance	12	98516101	98516101	Human	1	name
152169961	CV1538791	single nucleotide variant	NM_001032283.3(TMPO):c.270C>G (p.Ala90=)	Loeys-Dietz syndrome 2 [RCV002182985]	likely benign	12	98516137	98516137	Human	1	name
152073091	CV1556541	single nucleotide variant	NM_001032283.3(TMPO):c.267A>T (p.Ala89=)	Loeys-Dietz syndrome 2 [RCV002111726]\|not specified [RCV004045871]	likely benign	12	98516134	98516134	Human	1	name
152119991	CV1576124	single nucleotide variant	NM_001032283.3(TMPO):c.111C>T (p.Tyr37=)	Loeys-Dietz syndrome 2 [RCV002197917]\|not specified [RCV004045583]	likely benign	12	98515978	98515978	Human	1	name
9690250	CV175753	single nucleotide variant	NM_001032283.3(TMPO):c.252G>T (p.Ala84=)	Loeys-Dietz syndrome 2 [RCV000864212]\|not provided [RCV001704132]\|not specified [RCV000155923]	likely benign\|uncertain significance	12	98516119	98516119	Human	1	name
9693587	CV175893	single nucleotide variant	NM_001032283.3(TMPO):c.225G>A (p.Pro75=)	Loeys-Dietz syndrome 2 [RCV000470699]\|not provided [RCV001682875]\|not specified [RCV000155817]	benign	12	98516092	98516092	Human	1	name
155704583	CV1810715	single nucleotide variant	NM_001032283.3(TMPO):c.120C>T (p.Leu40=)	not specified [RCV004054120]	likely benign	12	98515987	98515987	Human		name
155699048	CV1824526	single nucleotide variant	NM_001032283.3(TMPO):c.126G>A (p.Leu42=)	not specified [RCV004054846]	likely benign	12	98515993	98515993	Human		name
155671322	CV1829204	single nucleotide variant	NM_001032283.3(TMPO):c.132C>T (p.His44=)	not specified [RCV004058419]	likely benign	12	98515999	98515999	Human		name
155705894	CV1841179	single nucleotide variant	NM_001032283.3(TMPO):c.108G>C (p.Val36=)	Loeys-Dietz syndrome 2 [RCV003626788]\|not specified [RCV004062541]	likely benign	12	98515975	98515975	Human	1	name
155713956	CV1841760	single nucleotide variant	NM_001032283.3(TMPO):c.249C>G (p.Ala83=)	not specified [RCV004062009]	likely benign	12	98516116	98516116	Human		name
155733473	CV1842628	single nucleotide variant	NM_001032283.3(TMPO):c.189G>A (p.Pro63=)	Loeys-Dietz syndrome 2 [RCV005097822]\|not specified [RCV004060754]	likely benign	12	98516056	98516056	Human	1	name
155733501	CV1842634	single nucleotide variant	NM_001032283.3(TMPO):c.189G>T (p.Pro63=)	not specified [RCV004060756]	likely benign	12	98516056	98516056	Human		name
155678053	CV1845177	single nucleotide variant	NM_001032283.3(TMPO):c.246C>G (p.Ala82=)	not specified [RCV004063922]	likely benign	12	98516113	98516113	Human		name
155740165	CV1846200	single nucleotide variant	NM_001032283.3(TMPO):c.192C>T (p.Asp64=)	not specified [RCV004060901]	likely benign	12	98516059	98516059	Human		name
155694526	CV1848113	single nucleotide variant	NM_001032283.3(TMPO):c.243C>T (p.Ala81=)	not specified [RCV004063816]	likely benign	12	98516110	98516110	Human		name
155724423	CV1851717	single nucleotide variant	NM_001032283.3(TMPO):c.252G>A (p.Ala84=)	not specified [RCV004062114]	likely benign	12	98516119	98516119	Human		name
156304472	CV1933702	single nucleotide variant	NM_001032283.3(TMPO):c.105C>T (p.Asp35=)	Loeys-Dietz syndrome 2 [RCV002629417]	likely benign	12	98515972	98515972	Human	1	name
156066817	CV1975465	single nucleotide variant	NM_001032283.3(TMPO):c.114C>A (p.Val38=)	Loeys-Dietz syndrome 2 [RCV002591154]	likely benign	12	98515981	98515981	Human	1	name
11552363	CV258747	single nucleotide variant	NM_001032283.3(TMPO):c.264A>C (p.Arg88=)	Cardiovascular phenotype [RCV000254276]	likely benign	12	98516131	98516131	Human		name
329952197	CV2668903	single nucleotide variant	NM_001032283.3(TMPO):c.19G>C (p.Asp7His)	not specified [RCV003230987]	uncertain significance	12	98515886	98515886	Human		name
401755573	CV2733415	single nucleotide variant	NM_001032283.3(TMPO):c.26C>T (p.Ser9Leu)	Loeys-Dietz syndrome 2 [RCV005102711]\|not specified [RCV004330359]	uncertain significance	12	98515893	98515893	Human	1	name
401723365	CV2737817	duplication	NM_001032283.3(TMPO):c.80dup (p.Pro28fs)	not provided [RCV003314989]	uncertain significance	12	98515946	98515947	Human		name
401867786	CV2787242	single nucleotide variant	NM_001032283.3(TMPO):c.198C>T (p.Ser66=)	not specified [RCV004366228]	likely benign	12	98516065	98516065	Human		name
405024233	CV2893544	single nucleotide variant	NM_001032283.3(TMPO):c.231C>T (p.Leu77=)	Loeys-Dietz syndrome 2 [RCV003516185]\|not specified [RCV004369244]	likely benign	12	98516098	98516098	Human	1	name
402497900	CV2985139	single nucleotide variant	NM_001032283.3(TMPO):c.150G>A (p.Arg50=)	Loeys-Dietz syndrome 2 [RCV003627978]	likely benign	12	98516017	98516017	Human	1	name
402493023	CV3078712	single nucleotide variant	NM_001032283.3(TMPO):c.186C>T (p.Pro62=)	Loeys-Dietz syndrome 2 [RCV003627432]	likely benign	12	98516053	98516053	Human	1	name
402476444	CV3173803	single nucleotide variant	NM_001032283.3(TMPO):c.273C>A (p.Val91=)	Loeys-Dietz syndrome 2 [RCV003875341]	likely benign	12	98516140	98516140	Human	1	name
11625994	CV333223	single nucleotide variant	NM_003276.2(TMPO):c.598A>C (p.Thr200Pro)	Dilated Cardiomyopathy, Dominant [RCV000405755]	uncertain significance	12	98532855	98532855	Human		name
405798765	CV3383196	single nucleotide variant	NM_001032283.3(TMPO):c.262C>A (p.Arg88=)	not specified [RCV004508528]	likely benign	12	98516129	98516129	Human		name
597800954	CV3610874	single nucleotide variant	NM_001032283.3(TMPO):c.141T>G (p.Ala47=)	not specified [RCV004880494]	likely benign	12	98516008	98516008	Human		name
597800960	CV3610877	single nucleotide variant	NM_001032283.3(TMPO):c.114C>G (p.Val38=)	not specified [RCV004880497]	likely benign	12	98515981	98515981	Human		name
597800967	CV3610880	single nucleotide variant	NM_001032283.3(TMPO):c.207A>G (p.Glu69=)	not specified [RCV004880500]	likely benign	12	98516074	98516074	Human		name
597800980	CV3610886	single nucleotide variant	NM_001032283.3(TMPO):c.201T>C (p.Ser67=)	not specified [RCV004880506]	likely benign	12	98516068	98516068	Human		name
12843743	CV373271	single nucleotide variant	NM_001032283.3(TMPO):c.249C>T (p.Ala83=)	Loeys-Dietz syndrome 2 [RCV001443585]\|not specified [RCV000436761]	likely benign	12	98516116	98516116	Human	1	name
12882292	CV399260	single nucleotide variant	NM_001032283.3(TMPO):c.234C>T (p.Gly78=)	Loeys-Dietz syndrome 2 [RCV001447383]\|not specified [RCV004023024]	likely benign	12	98516101	98516101	Human	1	name
13493733	CV462823	single nucleotide variant	NM_001032283.3(TMPO):c.213C>G (p.Arg71=)	Loeys-Dietz syndrome 2 [RCV000558399]\|not provided [RCV001565202]\|not specified [RCV004024075]	likely benign	12	98516080	98516080	Human	1	name
13535090	CV504688	single nucleotide variant	NM_001032283.3(TMPO):c.228C>T (p.Val76=)	Loeys-Dietz syndrome 2 [RCV001499646]\|not specified [RCV000602105]	likely benign	12	98516095	98516095	Human	1	name
13537134	CV505098	single nucleotide variant	NM_001032283.3(TMPO):c.108G>T (p.Val36=)	Loeys-Dietz syndrome 2 [RCV001518151]\|not specified [RCV000609975]	benign\|likely benign	12	98515975	98515975	Human	1	name
13541881	CV505102	single nucleotide variant	NM_001032283.3(TMPO):c.153G>A (p.Pro51=)	Loeys-Dietz syndrome 2 [RCV001426428]\|not provided [RCV004704118]\|not specified [RCV000616768]	likely benign	12	98516020	98516020	Human	1	name
8627407	CV82551	single nucleotide variant	NM_003276.2(TMPO):c.638C>T (p.Pro213Leu)	Malignant melanoma [RCV000062630]	not provided	12	98532895	98532895	Human		name
126762465	CV995454	single nucleotide variant	NM_001032283.3(TMPO):c.279G>A (p.Arg93=)	Loeys-Dietz syndrome 2 [RCV001300405]	uncertain significance	12	98516146	98516146	Human	1	name
127321505	CV1143915	single nucleotide variant	NM_001032283.3(TMPO):c.462A>G (p.Thr154=)	Loeys-Dietz syndrome 2 [RCV001484549]	likely benign	12	98531735	98531735	Human	1	name
150416132	CV1191486	single nucleotide variant	NM_001032283.3(TMPO):c.654G>A (p.Glu218=)	TMPO-related disorder [RCV004756272]\|not provided [RCV001568300]	likely benign	12	98537563	98537563	Human		name , trait , alternate_id
150495531	CV1225098	deletion	NM_001032283.3(TMPO):c.565+816_565+817del	not provided [RCV001619576]	benign	12	98532653	98532654	Human		name
150508716	CV1229714	duplication	NM_001032283.3(TMPO):c.879+112_879+113dup	not provided [RCV001636292]	benign	12	98544638	98544639	Human		name
150508309	CV1244800	single nucleotide variant	NM_001032283.3(TMPO):c.777G>A (p.Arg259=)	not provided [RCV001659049]	likely benign	12	98544343	98544343	Human		name
151802886	CV1375390	single nucleotide variant	NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly)	Loeys-Dietz syndrome 2 [RCV001953090]	uncertain significance	12	98515919	98515919	Human	1	name
151833493	CV1448028	microsatellite	NM_001032283.3(TMPO):c.565+995_565+998del	Loeys-Dietz syndrome 2 [RCV001920720]	uncertain significance	12	98532828	98532831	Human		name
152066509	CV1647027	single nucleotide variant	NM_001032283.3(TMPO):c.441G>A (p.Leu147=)	Loeys-Dietz syndrome 2 [RCV002129049]	likely benign	12	98531714	98531714	Human	1	name
153349349	CV1693146	single nucleotide variant	NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr)	Loeys-Dietz syndrome 2 [RCV003514547]\|not provided [RCV002275750]\|not specified [RCV004877734]	uncertain significance	12	98515952	98515952	Human	1	name
9691102	CV175752	single nucleotide variant	NM_001032283.3(TMPO):c.70A>C (p.Asn24His)	Loeys-Dietz syndrome 2 [RCV001063629]\|not provided [RCV001770119]\|not specified [RCV000156808]	uncertain significance	12	98515937	98515937	Human	1	name
9690353	CV175900	single nucleotide variant	NM_001032283.3(TMPO):c.681A>G (p.Gly227=)	not specified [RCV000156028]	likely benign	12	98544247	98544247	Human		name
155715852	CV1785027	single nucleotide variant	NM_001032283.3(TMPO):c.309A>G (p.Arg103=)	not specified [RCV004048312]	likely benign	12	98527915	98527915	Human		name
155726845	CV1787813	single nucleotide variant	NM_001032283.3(TMPO):c.421C>T (p.Leu141=)	not specified [RCV004051917]	likely benign	12	98531694	98531694	Human		name
155686029	CV1793578	single nucleotide variant	NM_001032283.3(TMPO):c.381C>T (p.Tyr127=)	Loeys-Dietz syndrome 2 [RCV005096404]\|not specified [RCV004048149]	likely benign	12	98527987	98527987	Human	1	name
155696842	CV1793874	single nucleotide variant	NM_001032283.3(TMPO):c.399T>C (p.Pro133=)	Loeys-Dietz syndrome 2 [RCV003775786]\|not specified [RCV004050569]	likely benign	12	98528005	98528005	Human	1	name
155698488	CV1855070	single nucleotide variant	NM_001032283.3(TMPO):c.306C>T (p.Pro102=)	Loeys-Dietz syndrome 2 [RCV003103032]\|not specified [RCV004066429]	likely benign	12	98527912	98527912	Human	1	name
156307204	CV1898742	single nucleotide variant	NM_001032283.3(TMPO):c.423A>G (p.Leu141=)	Loeys-Dietz syndrome 2 [RCV003088238]	likely benign	12	98531696	98531696	Human	1	name
156141333	CV2082332	single nucleotide variant	NM_001032283.3(TMPO):c.528A>G (p.Gly176=)	Loeys-Dietz syndrome 2 [RCV002871994]	likely benign	12	98531801	98531801	Human	1	name
156092774	CV2183314	single nucleotide variant	NM_001032283.3(TMPO):c.429G>A (p.Glu143=)	Loeys-Dietz syndrome 2 [RCV003054422]	likely benign	12	98531702	98531702	Human	1	name
401752754	CV2723344	single nucleotide variant	NM_001032283.3(TMPO):c.85G>T (p.Ala29Ser)	not specified [RCV004329558]	uncertain significance	12	98515952	98515952	Human		name
401755567	CV2733414	single nucleotide variant	NM_001032283.3(TMPO):c.471A>G (p.Arg157=)	Loeys-Dietz syndrome 2 [RCV003514626]\|not specified [RCV004330358]	likely benign	12	98531744	98531744	Human	1	name
401755583	CV2733417	single nucleotide variant	NM_001032283.3(TMPO):c.363G>A (p.Leu121=)	not specified [RCV004330361]	likely benign	12	98527969	98527969	Human		name
401880242	CV2783142	single nucleotide variant	NM_001032283.3(TMPO):c.77C>G (p.Thr26Arg)	not specified [RCV004363493]	uncertain significance	12	98515944	98515944	Human		name
402495005	CV2959477	single nucleotide variant	NM_001032283.3(TMPO):c.519G>A (p.Arg173=)	Loeys-Dietz syndrome 2 [RCV003627664]	likely benign	12	98531792	98531792	Human	1	name
405798778	CV3383200	single nucleotide variant	NM_001032283.3(TMPO):c.540T>C (p.Ser180=)	not specified [RCV004508532]	likely benign	12	98531813	98531813	Human		name
405798781	CV3383201	single nucleotide variant	NM_001032283.3(TMPO):c.54T>G (p.Ser18Arg)	not specified [RCV004508533]	uncertain significance	12	98515921	98515921	Human		name
405798796	CV3383205	single nucleotide variant	NM_001032283.3(TMPO):c.72T>G (p.Asn24Lys)	not specified [RCV004508537]	uncertain significance	12	98515939	98515939	Human		name
407458859	CV3482926	single nucleotide variant	NM_001032283.3(TMPO):c.438T>G (p.Leu146=)	not specified [RCV004686965]	likely benign	12	98531711	98531711	Human		name
408366867	CV3517292	single nucleotide variant	NM_001032283.3(TMPO):c.86C>T (p.Ala29Val)	TMPO-related disorder [RCV004757051]	uncertain significance	12	98515953	98515953	Human		name , trait , alternate_id
596921162	CV3534804	single nucleotide variant	NM_001032283.3(TMPO):c.915A>G (p.Ala305=)	not provided [RCV004784361]	uncertain significance	12	98544986	98544986	Human		name
597800934	CV3610865	single nucleotide variant	NM_001032283.3(TMPO):c.489A>G (p.Pro163=)	not specified [RCV004880485]	likely benign	12	98531762	98531762	Human		name
597800940	CV3610868	single nucleotide variant	NM_001032283.3(TMPO):c.83C>T (p.Pro28Leu)	not specified [RCV004880488]	uncertain significance	12	98515950	98515950	Human		name
597800945	CV3610870	single nucleotide variant	NM_001032283.3(TMPO):c.555C>T (p.Asp185=)	not specified [RCV004880490]	likely benign	12	98531828	98531828	Human		name
597832563	CV3831300	single nucleotide variant	NM_001032283.3(TMPO):c.351T>C (p.Asn117=)	Loeys-Dietz syndrome 2 [RCV005170503]	likely benign	12	98527957	98527957	Human	1	name
598126603	CV3882058	single nucleotide variant	NM_001032283.3(TMPO):c.795A>G (p.Ser265=)	not provided [RCV005233609]	uncertain significance	12	98544453	98544453	Human		name
598125362	CV3883956	single nucleotide variant	NM_001032283.3(TMPO):c.88G>A (p.Gly30Arg)	not provided [RCV005236311]	uncertain significance	12	98515955	98515955	Human		name
13536218	CV504125	single nucleotide variant	NM_001032283.3(TMPO):c.330A>G (p.Leu110=)	Loeys-Dietz syndrome 2 [RCV001433533]\|not specified [RCV000608673]	likely benign	12	98527936	98527936	Human	1	name
13534753	CV510405	single nucleotide variant	NM_001032283.3(TMPO):c.88G>C (p.Gly30Arg)	Loeys-Dietz syndrome 2 [RCV005091768]\|not specified [RCV004025040]	uncertain significance	12	98515955	98515955	Human	1	name
13534262	CV510408	single nucleotide variant	NM_001032283.3(TMPO):c.328C>T (p.Leu110=)	Loeys-Dietz syndrome 2 [RCV002528816]\|not specified [RCV004025035]	likely benign	12	98527934	98527934	Human	1	name
8606514	CV52861	single nucleotide variant	NM_001032283.3(TMPO):c.77C>T (p.Thr26Met)	not specified [RCV000036642]	uncertain significance	12	98515944	98515944	Human		name
8607512	CV53838	single nucleotide variant	NM_001032283.3(TMPO):c.396T>A (p.Gly132=)	Loeys-Dietz syndrome 2 [RCV000475290]\|not specified [RCV000037752]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	98528002	98528002	Human	1	name
8607513	CV53839	single nucleotide variant	NM_001032283.3(TMPO):c.534T>C (p.Asn178=)	Inborn genetic diseases [RCV002311530]\|Loeys-Dietz syndrome 2 [RCV000867585]\|not provided [RCV001711123]\|not specified [RCV000037753]	likely benign	12	98531807	98531807	Human	2	name
15040455	CV680107	single nucleotide variant	NM_001032283.3(TMPO):c.993G>A (p.Val331=)	Fetal akinesia deformation sequence 1 [RCV000855511]	uncertain significance	12	98546361	98546361	Human	3	name
150425301	CV1184777	single nucleotide variant	NM_001032283.3(TMPO):c.1182T>C (p.Tyr394=)	not provided [RCV001557826]	likely benign	12	98547675	98547675	Human		name
150426591	CV1188007	single nucleotide variant	NM_001032283.3(TMPO):c.1296A>G (p.Gln432=)	TMPO-related disorder [RCV003931187]\|not provided [RCV001559770]	likely benign	12	98547789	98547789	Human		name , trait , alternate_id
150535229	CV1294134	single nucleotide variant	NM_001032283.3(TMPO):c.160C>T (p.Pro54Ser)	not provided [RCV001758152]	uncertain significance	12	98516027	98516027	Human		name
151728876	CV1335264	single nucleotide variant	NM_001032283.3(TMPO):c.190G>A (p.Asp64Asn)	not specified [RCV001844582]	uncertain significance	12	98516057	98516057	Human		name
151710425	CV1376936	single nucleotide variant	NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser)	Loeys-Dietz syndrome 2 [RCV001889257]	uncertain significance	12	98527902	98527902	Human	1	name
151777012	CV1379243	single nucleotide variant	NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu)	Loeys-Dietz syndrome 2 [RCV001896887]\|not specified [RCV005288606]	uncertain significance	12	98516052	98516052	Human	1	name
151809656	CV1497094	single nucleotide variant	NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg)	Loeys-Dietz syndrome 2 [RCV001974648]	uncertain significance	12	98516004	98516004	Human	1	name
151760659	CV1497278	single nucleotide variant	NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr)	Loeys-Dietz syndrome 2 [RCV001987230]	uncertain significance	12	98516043	98516043	Human	1	name
9688181	CV175901	single nucleotide variant	NM_001032283.3(TMPO):c.1119G>A (p.Arg373=)	TMPO-related disorder [RCV003927469]\|not provided [RCV001569754]\|not specified [RCV000152058]	likely benign	12	98547612	98547612	Human		name , trait , alternate_id
9832549	CV178659	single nucleotide variant	NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)	Loeys-Dietz syndrome 2 [RCV000645708]\|Primary familial hypertrophic cardiomyopathy [RCV000157526]\|not provided [RCV003235075]\|not specified [RCV004019903]	uncertain significance	12	98516115	98516115	Human	2	name
155733683	CV1788060	single nucleotide variant	NM_001032283.3(TMPO):c.116A>G (p.Gln39Arg)	not specified [RCV004049838]	uncertain significance	12	98515983	98515983	Human		name
155730677	CV1837129	single nucleotide variant	NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)	Loeys-Dietz syndrome 2 [RCV003626761]\|not specified [RCV004058951]	uncertain significance	12	98516019	98516019	Human	1	name
155703253	CV1838421	single nucleotide variant	NM_001032283.3(TMPO):c.176G>T (p.Ser59Ile)	not specified [RCV004061388]	uncertain significance	12	98516043	98516043	Human		name
155685566	CV1845011	single nucleotide variant	NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)	Loeys-Dietz syndrome 2 [RCV003101764]\|not specified [RCV004063311]	uncertain significance	12	98516103	98516103	Human	1	name
155669084	CV1848867	single nucleotide variant	NM_001032283.3(TMPO):c.257G>A (p.Arg86Gln)	not specified [RCV004062803]	uncertain significance	12	98516124	98516124	Human		name
155693281	CV1851362	single nucleotide variant	NM_001032283.3(TMPO):c.241G>C (p.Ala81Pro)	not specified [RCV004063478]	uncertain significance	12	98516108	98516108	Human		name
155678882	CV1851981	single nucleotide variant	NM_001032283.3(TMPO):c.254G>C (p.Gly85Ala)	not specified [RCV004062188]	uncertain significance	12	98516121	98516121	Human		name
155679245	CV1854196	single nucleotide variant	NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)	Loeys-Dietz syndrome 2 [RCV003102175]\|not provided [RCV005255718]\|not specified [RCV004064103]	uncertain significance	12	98516141	98516141	Human	1	name
156295875	CV1888588	single nucleotide variant	NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)	Loeys-Dietz syndrome 2 [RCV003061658]\|not specified [RCV004071720]	uncertain significance	12	98516096	98516096	Human	1	name
10057591	CV198462	single nucleotide variant	NM_001032283.3(TMPO):c.232G>C (p.Gly78Arg)	not provided [RCV000183965]	uncertain significance	12	98516099	98516099	Human		name
156393249	CV2002343	single nucleotide variant	NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)	Loeys-Dietz syndrome 2 [RCV002680973]\|not specified [RCV004681529]	uncertain significance	12	98516037	98516037	Human	1	name
156088081	CV2095256	single nucleotide variant	NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)	Loeys-Dietz syndrome 2 [RCV002912937]	uncertain significance	12	98516037	98516037	Human	1	name
156088270	CV2096484	single nucleotide variant	NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)	Loeys-Dietz syndrome 2 [RCV002926579]\|not specified [RCV004877756]	uncertain significance	12	98527893	98527893	Human	1	name
156154115	CV2121745	single nucleotide variant	NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)	Loeys-Dietz syndrome 2 [RCV002929001]\|not specified [RCV004877764]	uncertain significance	12	98516077	98516077	Human	1	name
155946131	CV2154789	single nucleotide variant	NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)	Loeys-Dietz syndrome 2 [RCV003014573]	uncertain significance	12	98516139	98516139	Human	1	name
405010561	CV2915198	single nucleotide variant	NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)	Loeys-Dietz syndrome 2 [RCV003514919]	uncertain significance	12	98527890	98527890	Human	1	name
405021430	CV2923152	single nucleotide variant	NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)	Loeys-Dietz syndrome 2 [RCV003515950]	uncertain significance	12	98516037	98516037	Human	1	name
402500454	CV2998240	single nucleotide variant	NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)	Loeys-Dietz syndrome 2 [RCV003628222]	uncertain significance	12	98516118	98516118	Human	1	name
402484342	CV3031730	single nucleotide variant	NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)	Loeys-Dietz syndrome 2 [RCV003626390]\|not specified [RCV004877815]	uncertain significance	12	98516041	98516041	Human	1	name
402499544	CV3077908	single nucleotide variant	NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)	Loeys-Dietz syndrome 2 [RCV003628099]	uncertain significance	12	98516088	98516088	Human	1	name
405773204	CV3343426	single nucleotide variant	NM_001032283.3(TMPO):c.286A>G (p.Thr96Ala)	not specified [RCV004470653]	uncertain significance	12	98527892	98527892	Human		name
407527194	CV3482934	single nucleotide variant	NM_001032283.3(TMPO):c.282A>C (p.Lys94Asn)	not specified [RCV004679911]	uncertain significance	12	98527888	98527888	Human		name
408388600	CV3529055	single nucleotide variant	NM_001032283.3(TMPO):c.151C>T (p.Pro51Ser)	not provided [RCV004773877]	uncertain significance	12	98516018	98516018	Human		name
597800928	CV3610862	single nucleotide variant	NM_001032283.3(TMPO):c.178A>G (p.Lys60Glu)	not specified [RCV004880482]	uncertain significance	12	98516045	98516045	Human		name
597800942	CV3610869	single nucleotide variant	NM_001032283.3(TMPO):c.197C>A (p.Ser66Tyr)	not specified [RCV004880489]	uncertain significance	12	98516064	98516064	Human		name
597800947	CV3610871	single nucleotide variant	NM_001032283.3(TMPO):c.142C>T (p.Arg48Cys)	not specified [RCV004880491]	uncertain significance	12	98516009	98516009	Human		name
597800951	CV3610873	single nucleotide variant	NM_001032283.3(TMPO):c.163G>A (p.Ala55Thr)	not specified [RCV004880493]	uncertain significance	12	98516030	98516030	Human		name
597800956	CV3610875	single nucleotide variant	NM_001032283.3(TMPO):c.169A>G (p.Thr57Ala)	not specified [RCV004880495]	likely benign	12	98516036	98516036	Human		name
597800958	CV3610876	single nucleotide variant	NM_001032283.3(TMPO):c.160C>G (p.Pro54Ala)	not specified [RCV004880496]	likely benign	12	98516027	98516027	Human		name
597800965	CV3610879	single nucleotide variant	NM_001032283.3(TMPO):c.166G>A (p.Gly56Ser)	not specified [RCV004880499]	uncertain significance	12	98516033	98516033	Human		name
597801039	CV3610891	single nucleotide variant	NM_001032283.3(TMPO):c.214G>C (p.Glu72Gln)	not specified [RCV004880512]	uncertain significance	12	98516081	98516081	Human		name
12842574	CV373275	single nucleotide variant	NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln)	Loeys-Dietz syndrome 2 [RCV001350147]\|not provided [RCV000434665]	uncertain significance	12	98516130	98516130	Human	1	name
597935909	CV3764747	deletion	NM_001032283.3(TMPO):c.444del (p.Lys148fs)	Loeys-Dietz syndrome 2 [RCV005117446]	uncertain significance	12	98531715	98531715	Human	1	name
597834502	CV3831917	single nucleotide variant	NM_001032283.3(TMPO):c.173A>G (p.Asn58Ser)	Loeys-Dietz syndrome 2 [RCV005170920]	uncertain significance	12	98516040	98516040	Human	1	name
597948940	CV3848782	single nucleotide variant	NM_001032283.3(TMPO):c.197C>T (p.Ser66Phe)	Loeys-Dietz syndrome 2 [RCV005189719]	uncertain significance	12	98516064	98516064	Human	1	name
597917765	CV3861423	single nucleotide variant	NM_001032283.3(TMPO):c.247G>A (p.Ala83Thr)	Loeys-Dietz syndrome 2 [RCV005204580]	uncertain significance	12	98516114	98516114	Human	1	name
597929566	CV3862221	single nucleotide variant	NM_001032283.3(TMPO):c.146A>G (p.Asn49Ser)	Loeys-Dietz syndrome 2 [RCV005206462]	uncertain significance	12	98516013	98516013	Human	1	name
598126719	CV3882175	single nucleotide variant	NM_001032283.3(TMPO):c.254G>T (p.Gly85Val)	not provided [RCV005233726]	uncertain significance	12	98516121	98516121	Human		name
598228050	CV3914154	single nucleotide variant	NM_001032283.3(TMPO):c.163G>C (p.Ala55Pro)	not specified [RCV005294684]	uncertain significance	12	98516030	98516030	Human		name
12902369	CV408776	single nucleotide variant	NM_001032283.3(TMPO):c.187C>T (p.Pro63Ser)	not provided [RCV000486929]	uncertain significance	12	98516054	98516054	Human		name
13477505	CV445103	single nucleotide variant	NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter)	not provided [RCV000520416]	uncertain significance	12	98515982	98515982	Human		name
13482496	CV462819	single nucleotide variant	NM_001032283.3(TMPO):c.117G>C (p.Gln39His)	Loeys-Dietz syndrome 2 [RCV000529431]	uncertain significance	12	98515984	98515984	Human	1	name
13528403	CV510406	single nucleotide variant	NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)	Loeys-Dietz syndrome 2 [RCV000819571]\|not specified [RCV004025038]	uncertain significance	12	98516021	98516021	Human	1	name
13527558	CV510407	single nucleotide variant	NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)	Loeys-Dietz syndrome 2 [RCV001868098]\|not specified [RCV004025036]	uncertain significance	12	98527895	98527895	Human	1	name
13617853	CV527708	single nucleotide variant	NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys)	Loeys-Dietz syndrome 2 [RCV000645709]	uncertain significance	12	98516145	98516145	Human	1	name
14393949	CV609864	single nucleotide variant	NM_001032283.3(TMPO):c.284C>A (p.Ala95Asp)	not provided [RCV000756789]	benign	12	98527890	98527890	Human		name
14727140	CV641506	single nucleotide variant	NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg)	Loeys-Dietz syndrome 2 [RCV000815967]\|not specified [RCV004028869]	uncertain significance	12	98515995	98515995	Human	1	name
15146493	CV784499	single nucleotide variant	NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)	Loeys-Dietz syndrome 2 [RCV000983867]	likely benign	12	98516105	98516105	Human	1	name
26886544	CV840474	single nucleotide variant	NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)	Loeys-Dietz syndrome 2 [RCV001066134]	uncertain significance	12	98516000	98516000	Human	1	name
26886783	CV840475	single nucleotide variant	NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)	Loeys-Dietz syndrome 2 [RCV001044444]\|not specified [RCV004031360]	likely benign\|uncertain significance	12	98516031	98516031	Human	1	name
126760341	CV995453	single nucleotide variant	NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly)	Loeys-Dietz syndrome 2 [RCV001309287]	uncertain significance	12	98516123	98516123	Human	1	name
126761791	CV1010715	single nucleotide variant	NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)	Loeys-Dietz syndrome 2 [RCV001318742]\|not provided [RCV004770045]\|not specified [RCV004034947]	uncertain significance	12	98531790	98531790	Human	1	name
126750108	CV1031218	single nucleotide variant	NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys)	Loeys-Dietz syndrome 2 [RCV001337978]\|not specified [RCV004679085]	uncertain significance	12	98527986	98527986	Human	1	name
126920628	CV1048204	single nucleotide variant	NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)	Loeys-Dietz syndrome 2 [RCV001373916]\|not specified [RCV004037591]	uncertain significance	12	98527998	98527998	Human	1	name
126917012	CV1048205	single nucleotide variant	NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu)	Loeys-Dietz syndrome 2 [RCV001371835]	uncertain significance	12	98531755	98531755	Human	1	name
150453696	CV1205749	single nucleotide variant	NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)	not provided [RCV001586706]	uncertain significance	12	98545020	98545020	Human		name
150533367	CV1292606	deletion	NM_001032283.3(TMPO):c.565+2128_565+2129del	not provided [RCV001754213]	uncertain significance	12	98533965	98533966	Human		name
150542083	CV1298164	single nucleotide variant	NM_001032283.3(TMPO):c.911A>G (p.His304Arg)	not provided [RCV001768777]	uncertain significance	12	98544982	98544982	Human		name
151759241	CV1343047	single nucleotide variant	NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro)	Loeys-Dietz syndrome 2 [RCV002024172]	uncertain significance	12	98531751	98531751	Human	1	name
151837917	CV1383036	single nucleotide variant	NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg)	Loeys-Dietz syndrome 2 [RCV001921186]	uncertain significance	12	98531758	98531758	Human	1	name
151845503	CV1394886	single nucleotide variant	NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg)	Loeys-Dietz syndrome 2 [RCV001995276]	uncertain significance	12	98531716	98531716	Human	1	name
151884624	CV1424877	single nucleotide variant	NM_001032283.3(TMPO):c.331G>C (p.Asp111His)	Loeys-Dietz syndrome 2 [RCV001887188]\|not provided [RCV003149000]\|not specified [RCV004041560]	uncertain significance	12	98527937	98527937	Human	1	name
151760460	CV1459450	single nucleotide variant	NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe)	Loeys-Dietz syndrome 2 [RCV002044213]	uncertain significance	12	98531749	98531749	Human	1	name
151714233	CV1469633	single nucleotide variant	NM_001032283.3(TMPO):c.365A>T (p.Asp122Val)	Loeys-Dietz syndrome 2 [RCV001889996]\|not specified [RCV004681284]	uncertain significance	12	98527971	98527971	Human	1	name
151810166	CV1497229	single nucleotide variant	NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe)	Loeys-Dietz syndrome 2 [RCV001974691]\|not specified [RCV005288638]	uncertain significance	12	98528006	98528006	Human	1	name
155267642	CV1705042	single nucleotide variant	NM_001032283.3(TMPO):c.700A>T (p.Thr234Ser)	not provided [RCV002285647]	uncertain significance	12	98544266	98544266	Human		name
9692265	CV175758	microsatellite	NM_001032283.3(TMPO):c.565+2461_565+2463del	Loeys-Dietz syndrome 2 [RCV003626607]\|not specified [RCV000152056]	uncertain significance	12	98534295	98534297	Human		name
9688180	CV175760	single nucleotide variant	NM_001032283.3(TMPO):c.806G>A (p.Arg269His)	not provided [RCV004589643]\|not specified [RCV000152057]	uncertain significance	12	98544464	98544464	Human		name
9690667	CV175899	single nucleotide variant	NM_001032283.3(TMPO):c.614G>A (p.Arg205Lys)	not specified [RCV000156355]	uncertain significance	12	98537523	98537523	Human		name
155706696	CV1778369	single nucleotide variant	NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)	Loeys-Dietz syndrome 2 [RCV002295987]	uncertain significance	12	98531766	98531766	Human	1	name
155663742	CV1785782	single nucleotide variant	NM_001032283.3(TMPO):c.337A>G (p.Thr113Ala)	not specified [RCV004047867]	uncertain significance	12	98527943	98527943	Human		name
155719056	CV1788738	single nucleotide variant	NM_001032283.3(TMPO):c.333T>A (p.Asp111Glu)	not specified [RCV004047772]	uncertain significance	12	98527939	98527939	Human		name
155686825	CV1790187	single nucleotide variant	NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)	Loeys-Dietz syndrome 2 [RCV003775755]\|not specified [RCV004048254]	uncertain significance	12	98527992	98527992	Human	1	name
155695812	CV1794031	single nucleotide variant	NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)	Loeys-Dietz syndrome 2 [RCV003626718]\|not specified [RCV004051113]	uncertain significance	12	98528006	98528006	Human	1	name
155732128	CV1794557	single nucleotide variant	NM_001032283.3(TMPO):c.454C>G (p.Gln152Glu)	not specified [RCV004051408]	uncertain significance	12	98531727	98531727	Human		name
155694852	CV1796956	single nucleotide variant	NM_001032283.3(TMPO):c.394G>C (p.Gly132Arg)	not specified [RCV004050461]	uncertain significance	12	98528000	98528000	Human		name
155706545	CV1801807	single nucleotide variant	NM_001032283.3(TMPO):c.464A>G (p.Glu155Gly)	not specified [RCV004051573]	uncertain significance	12	98531737	98531737	Human		name
155737107	CV1805304	single nucleotide variant	NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)	Loeys-Dietz syndrome 2 [RCV003096468]\|not specified [RCV004052155]	uncertain significance	12	98531752	98531752	Human	1	name
156410408	CV1885870	deletion	NM_001032283.3(TMPO):c.565+1536_565+1543del	Loeys-Dietz syndrome 2 [RCV003072059]\|not provided [RCV004786821]	uncertain significance	12	98533371	98533378	Human	1	name
10046420	CV189914	single nucleotide variant	NM_001032283.3(TMPO):c.331G>A (p.Asp111Asn)	not provided [RCV000172122]	uncertain significance	12	98527937	98527937	Human		name
10046421	CV189915	single nucleotide variant	NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)	Loeys-Dietz syndrome 2 [RCV002515261]\|not provided [RCV000172123]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	98527964	98527964	Human	1	name
10046422	CV189916	single nucleotide variant	NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)	Loeys-Dietz syndrome 2 [RCV002516568]\|not provided [RCV000172124]	uncertain significance	12	98527988	98527988	Human	1	name
10046423	CV189917	single nucleotide variant	NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)	Loeys-Dietz syndrome 2 [RCV001088983]\|not provided [RCV000172125]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	98531830	98531830	Human	1	name
10046429	CV189925	single nucleotide variant	NM_001032283.3(TMPO):c.856A>G (p.Met286Val)	not provided [RCV000172131]	uncertain significance	12	98544514	98544514	Human		name
10046430	CV189926	single nucleotide variant	NM_001032283.3(TMPO):c.887A>G (p.Asn296Ser)	not provided [RCV000172132]	uncertain significance	12	98544958	98544958	Human		name
10057592	CV198463	single nucleotide variant	NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)	Loeys-Dietz syndrome 2 [RCV000226396]\|TMPO-related disorder [RCV003977488]\|not provided [RCV001721145]\|not specified [RCV000183966]	likely benign\|uncertain significance	12	98527956	98527956	Human	2	name , trait , alternate_id
10057593	CV198464	single nucleotide variant	NM_001032283.3(TMPO):c.398C>T (p.Pro133Leu)	not provided [RCV000183967]	uncertain significance	12	98528004	98528004	Human		name
10057594	CV198465	single nucleotide variant	NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr)	Loeys-Dietz syndrome 2 [RCV000824153]\|not provided [RCV000183968]	uncertain significance	12	98531770	98531770	Human	1	name
156130452	CV2037402	deletion	NM_001032283.3(TMPO):c.565+1508_565+1509del	Loeys-Dietz syndrome 2 [RCV002800592]	uncertain significance	12	98533346	98533347	Human	1	name
156265947	CV2059609	single nucleotide variant	NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)	Loeys-Dietz syndrome 2 [RCV002806492]	uncertain significance	12	98531733	98531733	Human	1	name
155937080	CV2074979	single nucleotide variant	NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)	Loeys-Dietz syndrome 2 [RCV002861517]	uncertain significance	12	98527930	98527930	Human	1	name
156229662	CV2115541	single nucleotide variant	NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)	Loeys-Dietz syndrome 2 [RCV002932779]	uncertain significance	12	98527997	98527997	Human	1	name
156394743	CV2181896	single nucleotide variant	NM_001032283.3(TMPO):c.482C>A (p.Pro161His)	Loeys-Dietz syndrome 2 [RCV003051739]	uncertain significance	12	98531755	98531755	Human	1	name
155922979	CV2215389	single nucleotide variant	NM_001032283.3(TMPO):c.629T>A (p.Val210Glu)	not specified [RCV004089195]	uncertain significance	12	98537538	98537538	Human		name
329363174	CV2428911	single nucleotide variant	NM_001032283.3(TMPO):c.308G>A (p.Arg103Lys)	not specified [RCV004247463]	uncertain significance	12	98527914	98527914	Human		name
329350639	CV2477419	single nucleotide variant	NM_001032283.3(TMPO):c.634C>T (p.Leu212Phe)	not provided [RCV003221744]	uncertain significance	12	98537543	98537543	Human		name
401866040	CV2775389	single nucleotide variant	NM_001032283.3(TMPO):c.539C>T (p.Ser180Phe)	not specified [RCV004348792]	uncertain significance	12	98531812	98531812	Human		name
405018093	CV2878411	single nucleotide variant	NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)	Loeys-Dietz syndrome 2 [RCV003515626]	uncertain significance	12	98531758	98531758	Human	1	name
402483248	CV3026544	single nucleotide variant	NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)	Loeys-Dietz syndrome 2 [RCV003626282]	uncertain significance	12	98527914	98527914	Human	1	name
405103338	CV3116226	single nucleotide variant	NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)	Loeys-Dietz syndrome 2 [RCV003811942]	uncertain significance	12	98531779	98531779	Human	1	name
405193971	CV3128539	microsatellite	NM_001032283.3(TMPO):c.565+2175_565+2176del	Loeys-Dietz syndrome 2 [RCV003821276]	uncertain significance	12	98534010	98534011	Human		name
11661246	CV333221	single nucleotide variant	NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu)	Loeys-Dietz syndrome 2 [RCV003626987]	uncertain significance	12	98527989	98527989	Human	1	name
405798769	CV3383197	single nucleotide variant	NM_001032283.3(TMPO):c.322G>T (p.Asp108Tyr)	not specified [RCV004508529]	uncertain significance	12	98527928	98527928	Human		name
405798772	CV3383198	single nucleotide variant	NM_001032283.3(TMPO):c.328C>A (p.Leu110Ile)	not specified [RCV004508530]	uncertain significance	12	98527934	98527934	Human		name
405798775	CV3383199	single nucleotide variant	NM_001032283.3(TMPO):c.367C>G (p.Gln123Glu)	not specified [RCV004508531]	uncertain significance	12	98527973	98527973	Human		name
407527181	CV3482930	single nucleotide variant	NM_001032283.3(TMPO):c.537T>A (p.Asp179Glu)	not specified [RCV004679907]	uncertain significance	12	98531810	98531810	Human		name
408366429	CV3510242	single nucleotide variant	NM_001032283.3(TMPO):c.725C>T (p.Pro242Leu)	TMPO-related disorder [RCV004756706]	uncertain significance	12	98544291	98544291	Human		name , trait , alternate_id
408388279	CV3527442	single nucleotide variant	NM_001032283.3(TMPO):c.955A>G (p.Arg319Gly)	not provided [RCV004773745]	uncertain significance	12	98545026	98545026	Human		name
597631512	CV3552719	deletion	NM_001032283.3(TMPO):c.565+1812_565+1814del	not provided [RCV004823419]	uncertain significance	12	98533650	98533652	Human		name
597800932	CV3610864	single nucleotide variant	NM_001032283.3(TMPO):c.299A>G (p.Asp100Gly)	not specified [RCV004880484]	uncertain significance	12	98527905	98527905	Human		name
12846414	CV373535	single nucleotide variant	NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu)	Loeys-Dietz syndrome 2 [RCV001477218]\|not specified [RCV000441604]	likely benign	12	98527963	98527963	Human	1	name
597904459	CV3793288	deletion	NM_001032283.3(TMPO):c.565+2281_565+2282del	Loeys-Dietz syndrome 2 [RCV005153256]	uncertain significance	12	98534118	98534119	Human	1	name
597970998	CV3802398	single nucleotide variant	NM_001032283.3(TMPO):c.560A>G (p.Glu187Gly)	Loeys-Dietz syndrome 2 [RCV005141996]	uncertain significance	12	98531833	98531833	Human	1	name
597954239	CV3812679	microsatellite	NM_001032283.3(TMPO):c.565+1718_565+1721del	Loeys-Dietz syndrome 2 [RCV005161953]	uncertain significance	12	98533552	98533555	Human		name
597958877	CV3848570	single nucleotide variant	NM_001032283.3(TMPO):c.327T>A (p.Asp109Glu)	Loeys-Dietz syndrome 2 [RCV005192271]	uncertain significance	12	98527933	98527933	Human	1	name
597915204	CV3851152	microsatellite	NM_001032283.3(TMPO):c.565+1615_565+1616del	Loeys-Dietz syndrome 2 [RCV005204120]	uncertain significance	12	98533451	98533452	Human		name
598236020	CV3893509	single nucleotide variant	NM_001032283.3(TMPO):c.556A>G (p.Asn186Asp)	not provided [RCV005256242]	uncertain significance	12	98531829	98531829	Human		name
598252921	CV3934898	single nucleotide variant	NM_001032283.3(TMPO):c.311A>C (p.Gln104Pro)	not specified [RCV005278163]	uncertain significance	12	98527917	98527917	Human		name
13211255	CV419286	single nucleotide variant	NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)	Loeys-Dietz syndrome 2 [RCV000795758]\|Primary dilated cardiomyopathy [RCV000498737]	uncertain significance	12	98527976	98527976	Human	2	name
13485241	CV445104	single nucleotide variant	NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly)	Loeys-Dietz syndrome 2 [RCV000792924]\|not provided [RCV000522550]	uncertain significance	12	98531802	98531802	Human	1	name
13495070	CV463297	microsatellite	NM_001032283.3(TMPO):c.565+2284_565+2285del	Loeys-Dietz syndrome 2 [RCV000559367]	uncertain significance	12	98534120	98534121	Human		name
13533728	CV510409	single nucleotide variant	NM_001032283.3(TMPO):c.497C>G (p.Ser166Cys)	not specified [RCV004025039]	uncertain significance	12	98531770	98531770	Human		name
8606515	CV52862	single nucleotide variant	NM_001032283.3(TMPO):c.859G>C (p.Ala287Pro)	TMPO-related disorder [RCV003914929]\|not provided [RCV001534561]\|not specified [RCV000036643]	benign	12	98544517	98544517	Human		name , trait , alternate_id
13808125	CV567098	microsatellite	NM_001032283.3(TMPO):c.565+2369_565+2371del	Loeys-Dietz syndrome 2 [RCV000701485]\|not provided [RCV005251174]	uncertain significance	12	98534203	98534205	Human		name
26912192	CV840476	single nucleotide variant	NM_001032283.3(TMPO):c.373G>A (p.Val125Met)	Loeys-Dietz syndrome 2 [RCV001053280]	uncertain significance	12	98527979	98527979	Human	1	name
38485484	CV936320	single nucleotide variant	NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)	Loeys-Dietz syndrome 2 [RCV001208499]\|not specified [RCV004033730]	likely benign\|uncertain significance	12	98527924	98527924	Human	1	name
150544583	CV1295501	single nucleotide variant	NM_001032283.3(TMPO):c.1143G>T (p.Arg381Ser)	not provided [RCV001773936]	uncertain significance	12	98547636	98547636	Human		name
9690208	CV175761	single nucleotide variant	NM_001032283.3(TMPO):c.1174C>T (p.Pro392Ser)	not specified [RCV000155880]	uncertain significance	12	98547667	98547667	Human		name
9832550	CV178661	single nucleotide variant	NM_001032283.3(TMPO):c.1237G>T (p.Val413Leu)	Primary familial hypertrophic cardiomyopathy [RCV000157527]\|not specified [RCV004019904]	uncertain significance	12	98547730	98547730	Human	1	name
10046431	CV189927	single nucleotide variant	NM_001032283.3(TMPO):c.1120C>A (p.Pro374Thr)	not provided [RCV000172133]	uncertain significance	12	98547613	98547613	Human		name
10046432	CV189928	single nucleotide variant	NM_001032283.3(TMPO):c.1177A>G (p.Lys393Glu)	not provided [RCV000172134]	uncertain significance	12	98547670	98547670	Human		name
156237129	CV2224186	single nucleotide variant	NM_001032283.3(TMPO):c.1225C>T (p.Arg409Cys)	not specified [RCV004096032]	uncertain significance	12	98547718	98547718	Human		name
401751309	CV2738959	single nucleotide variant	NM_001032283.3(TMPO):c.1042A>G (p.Met348Val)	Long QT syndrome [RCV003318441]	uncertain significance	12	98546410	98546410	Human	2	name
405282625	CV3191112	single nucleotide variant	NM_001032283.3(TMPO):c.1297G>A (p.Ala433Thr)	TMPO-related disorder [RCV003921527]	uncertain significance	12	98547790	98547790	Human		name , trait , alternate_id
408366464	CV3510654	single nucleotide variant	NM_001032283.3(TMPO):c.1196A>G (p.Asp399Gly)	TMPO-related disorder [RCV004756737]	uncertain significance	12	98547689	98547689	Human		name , trait , alternate_id
596927792	CV3532720	single nucleotide variant	NM_001032283.3(TMPO):c.1028A>G (p.Asp343Gly)	not provided [RCV004778818]	uncertain significance	12	98546396	98546396	Human		name
596944829	CV3543514	single nucleotide variant	NM_001032283.3(TMPO):c.1024A>T (p.Arg342Trp)	not provided [RCV004801636]	uncertain significance	12	98546392	98546392	Human		name
596938719	CV3549771	single nucleotide variant	NM_001032283.3(TMPO):c.1044G>C (p.Met348Ile)	not provided [RCV004812812]	uncertain significance	12	98546412	98546412	Human		name
151762630	CV1425527	insertion	NM_001032283.3(TMPO):c.565+1362_565+1363insTCA	Loeys-Dietz syndrome 2 [RCV001928703]	uncertain significance	12	98533199	98533200	Human	1	name
156219947	CV1899707	microsatellite	NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)	Loeys-Dietz syndrome 2 [RCV003084955]	uncertain significance	12	98531745	98531747	Human		name
402499017	CV2982663	microsatellite	NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)	Loeys-Dietz syndrome 2 [RCV003628072]	uncertain significance	12	98531776	98531778	Human		name
597914030	CV3833873	microsatellite	NM_001032283.3(TMPO):c.341_342del (p.Glu114fs)	Loeys-Dietz syndrome 2 [RCV005183232]	uncertain significance	12	98527945	98527946	Human		name
156042926	CV2089738	deletion	NM_001032283.3(TMPO):c.478_480del (p.Thr160del)	Loeys-Dietz syndrome 2 [RCV002867513]	uncertain significance	12	98531749	98531751	Human	1	name
402483840	CV3024224	indel	NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT	Loeys-Dietz syndrome 2 [RCV003626343]	uncertain significance	12	98532900	98532901	Human		name
401829805	CV2747571	duplication	NM_001032283.3(TMPO):c.668_670dup (p.Tyr223_Ser224insTyr)	not provided [RCV003329037]	uncertain significance	12	98544232	98544233	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message