Slc2a10 Variant Search Result - Rat Genome Database

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684 records found for search term Slc2a10

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596926474	CV3539836	single nucleotide variant	NM_030777.4(SLC2A10):c.-2C>T	not provided [RCV004790827]	uncertain significance	20	46709735	46709735	Human		name
597629239	CV3602817	single nucleotide variant	NM_030777.4(SLC2A10):c.-3G>A	Familial thoracic aortic aneurysm and aortic dissection [RCV004821736]	uncertain significance	20	46709734	46709734	Human	1	name
12843424	CV379706	single nucleotide variant	NM_030777.4(SLC2A10):c.*8G>A	Familial thoracic aortic aneurysm and aortic dissection [RCV003485580]\|not specified [RCV000436197]	likely benign\|uncertain significance	20	46733842	46733842	Human	1	name
14688731	CV615176	single nucleotide variant	NM_030777.4(SLC2A10):c.*7C>T	Familial thoracic aortic aneurysm and aortic dissection [RCV000769678]	likely benign	20	46733841	46733841	Human	1	name
151765212	CV1362547	single nucleotide variant	NM_030777.4(SLC2A10):c.5-2A>G	Arterial tortuosity syndrome [RCV001970627]	likely pathogenic	20	46725039	46725039	Human	1	name
8692921	CV142887	single nucleotide variant	NM_030777.4(SLC2A10):c.-27C>T	Arterial tortuosity syndrome [RCV000287536]\|not provided [RCV004717066]\|not specified [RCV000128134]	benign\|likely benign	20	46709710	46709710	Human	1	name
8692922	CV142888	single nucleotide variant	NM_030777.4(SLC2A10):c.-15C>T	Arterial tortuosity syndrome [RCV000394632]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798429]\|not provided [RCV002510788]\|not specified [RCV000128135]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46709722	46709722	Human	2	name
243055940	CV2416686	single nucleotide variant	NM_030777.4(SLC2A10):c.4+6T>A	Familial thoracic aortic aneurysm and aortic dissection [RCV003150771]	uncertain significance	20	46709746	46709746	Human	1	name
405057282	CV3026041	single nucleotide variant	NM_030777.4(SLC2A10):c.5-7T>G	Arterial tortuosity syndrome [RCV003611014]	likely benign	20	46725034	46725034	Human	1	name
405282443	CV3191013	single nucleotide variant	NM_030777.4(SLC2A10):c.-10C>G	SLC2A10-related disorder [RCV003921433]	likely benign	20	46709727	46709727	Human		name , trait , alternate_id
11663290	CV335626	single nucleotide variant	NM_030777.4(SLC2A10):c.-60G>T	Arterial tortuosity syndrome [RCV000394599]	uncertain significance	20	46709677	46709677	Human	1	name
11658173	CV335629	single nucleotide variant	NM_030777.4(SLC2A10):c.-22A>G	Arterial tortuosity syndrome [RCV000347203]\|not provided [RCV001537350]	benign\|uncertain significance	20	46709715	46709715	Human	1	name
11613492	CV335637	single nucleotide variant	NM_030777.4(SLC2A10):c.*29C>G	Arterial tortuosity syndrome [RCV000268943]\|not provided [RCV001537025]	likely benign\|uncertain significance	20	46733863	46733863	Human	1	name
11619772	CV335641	single nucleotide variant	NM_030777.4(SLC2A10):c.*50T>C	Arterial tortuosity syndrome [RCV000329261]\|not provided [RCV004717383]	benign\|uncertain significance	20	46733884	46733884	Human	1	name
11624244	CV335645	single nucleotide variant	NM_030777.4(SLC2A10):c.*56A>G	Arterial tortuosity syndrome [RCV000383783]\|not provided [RCV001594972]	benign\|likely benign	20	46733890	46733890	Human	1	name
12844577	CV379701	single nucleotide variant	NM_030777.4(SLC2A10):c.4+9C>G	Arterial tortuosity syndrome [RCV003502525]\|not specified [RCV000438237]	likely benign	20	46709749	46709749	Human	1	name
13528456	CV508198	duplication	NM_030777.4(SLC2A10):c.-26dup	not specified [RCV000600053]	likely benign	20	46709706	46709707	Human		name
28889583	CV886188	single nucleotide variant	NM_030777.4(SLC2A10):c.-55G>T	Arterial tortuosity syndrome [RCV001138752]	uncertain significance	20	46709682	46709682	Human	1	name
28901740	CV886195	single nucleotide variant	NM_030777.4(SLC2A10):c.*32T>C	Arterial tortuosity syndrome [RCV001143297]\|not provided [RCV001557191]	benign\|likely benign	20	46733866	46733866	Human	1	name
127315740	CV1149507	single nucleotide variant	NM_030777.4(SLC2A10):c.4+10G>A	Arterial tortuosity syndrome [RCV001502809]	likely benign	20	46709750	46709750	Human	1	name
152043076	CV1624348	single nucleotide variant	NM_030777.4(SLC2A10):c.5-18C>T	Arterial tortuosity syndrome [RCV002126340]\|not specified [RCV004700660]	likely benign	20	46725023	46725023	Human	1	name
156358984	CV1904168	single nucleotide variant	NM_030777.4(SLC2A10):c.4+14G>T	Arterial tortuosity syndrome [RCV002581594]	likely benign	20	46709754	46709754	Human	1	name
405134084	CV2919072	single nucleotide variant	NM_030777.4(SLC2A10):c.4+14G>C	Arterial tortuosity syndrome [RCV003502459]	likely benign	20	46709754	46709754	Human	1	name
11613142	CV335650	single nucleotide variant	NM_030777.4(SLC2A10):c.*143G>A	Arterial tortuosity syndrome [RCV000265876]\|not provided [RCV004717384]	benign\|likely benign	20	46733977	46733977	Human	1	name
11654814	CV335651	single nucleotide variant	NM_030777.4(SLC2A10):c.*171C>T	Arterial tortuosity syndrome [RCV000321019]	uncertain significance	20	46734005	46734005	Human	1	name
11623981	CV335652	single nucleotide variant	NM_030777.4(SLC2A10):c.*180A>G	Arterial tortuosity syndrome [RCV000380165]	uncertain significance	20	46734014	46734014	Human	1	name
11649124	CV335654	single nucleotide variant	NM_030777.4(SLC2A10):c.*182T>G	Arterial tortuosity syndrome [RCV000285691]	uncertain significance	20	46734016	46734016	Human	1	name
11623362	CV335655	single nucleotide variant	NM_030777.4(SLC2A10):c.*280C>T	Arterial tortuosity syndrome [RCV000372065]\|not provided [RCV001584042]	benign\|likely benign	20	46734114	46734114	Human	1	name
11617288	CV335664	single nucleotide variant	NM_030777.4(SLC2A10):c.*958C>T	Arterial tortuosity syndrome [RCV000302741]	benign\|likely benign	20	46734792	46734792	Human	1	name
11627436	CV345379	single nucleotide variant	NM_030777.4(SLC2A10):c.*334A>G	Arterial tortuosity syndrome [RCV000282635]\|not provided [RCV004717385]	benign\|likely benign	20	46734168	46734168	Human	1	name
11629955	CV345383	single nucleotide variant	NM_030777.4(SLC2A10):c.*389C>G	Arterial tortuosity syndrome [RCV000337696]\|not provided [RCV004694607]	uncertain significance	20	46734223	46734223	Human	1	name
11632094	CV345388	single nucleotide variant	NM_030777.4(SLC2A10):c.*478G>A	Arterial tortuosity syndrome [RCV000398324]	benign\|uncertain significance	20	46734312	46734312	Human	1	name
11628781	CV345390	single nucleotide variant	NM_030777.4(SLC2A10):c.*513T>C	Arterial tortuosity syndrome [RCV000308462]	benign\|uncertain significance	20	46734347	46734347	Human	1	name
11660012	CV345391	single nucleotide variant	NM_030777.4(SLC2A10):c.*712A>G	Arterial tortuosity syndrome [RCV000363152]	uncertain significance	20	46734546	46734546	Human	1	name
11626832	CV345393	single nucleotide variant	NM_030777.4(SLC2A10):c.*809C>T	Arterial tortuosity syndrome [RCV000271043]	benign\|uncertain significance	20	46734643	46734643	Human	1	name
11656746	CV350055	deletion	NM_030777.4(SLC2A10):c.*269del	Arterial tortuosity syndrome [RCV000336130]\|not provided [RCV001562561]	likely benign\|uncertain significance	20	46734102	46734102	Human	1	name
11653547	CV350056	duplication	NM_030777.4(SLC2A10):c.*472dup	Arterial tortuosity syndrome [RCV000311794]\|not provided [RCV004694608]	uncertain significance	20	46734294	46734295	Human	1	name
11632046	CV351087	single nucleotide variant	NM_030777.4(SLC2A10):c.*401C>A	Arterial tortuosity syndrome [RCV000396855]	uncertain significance	20	46734235	46734235	Human	1	name
597945967	CV3790013	single nucleotide variant	NM_030777.4(SLC2A10):c.4+17C>A	Arterial tortuosity syndrome [RCV005134714]	likely benign	20	46709757	46709757	Human	1	name
597889322	CV3839604	single nucleotide variant	NM_030777.4(SLC2A10):c.5-13T>C	Arterial tortuosity syndrome [RCV005179496]	likely benign	20	46725028	46725028	Human	1	name
14712639	CV669140	single nucleotide variant	NM_030777.3(SLC2A10):c.-321C>A	not provided [RCV000828481]	likely benign	20	46709416	46709416	Human		name
14713415	CV669143	single nucleotide variant	NM_030777.3(SLC2A10):c.-273C>T	not provided [RCV000828709]	likely benign	20	46709464	46709464	Human		name
28901744	CV886196	single nucleotide variant	NM_030777.4(SLC2A10):c.*116C>T	Arterial tortuosity syndrome [RCV001143298]	uncertain significance	20	46733950	46733950	Human	1	name
28882761	CV886197	single nucleotide variant	NM_030777.4(SLC2A10):c.*191C>T	Arterial tortuosity syndrome [RCV001136718]	uncertain significance	20	46734025	46734025	Human	1	name
28882765	CV886198	single nucleotide variant	NM_030777.4(SLC2A10):c.*194G>A	Arterial tortuosity syndrome [RCV001136719]	uncertain significance	20	46734028	46734028	Human	1	name
28882771	CV886199	single nucleotide variant	NM_030777.4(SLC2A10):c.*194G>T	Arterial tortuosity syndrome [RCV001136720]	likely benign	20	46734028	46734028	Human	1	name
28882772	CV886200	single nucleotide variant	NM_030777.4(SLC2A10):c.*214T>G	Arterial tortuosity syndrome [RCV001136721]	uncertain significance	20	46734048	46734048	Human	1	name
28890244	CV886201	single nucleotide variant	NM_030777.4(SLC2A10):c.*410A>C	Arterial tortuosity syndrome [RCV001138969]	likely benign	20	46734244	46734244	Human	1	name
28890247	CV886202	single nucleotide variant	NM_030777.4(SLC2A10):c.*414G>T	Arterial tortuosity syndrome [RCV001138970]	uncertain significance	20	46734248	46734248	Human	1	name
28890248	CV886203	single nucleotide variant	NM_030777.4(SLC2A10):c.*579G>C	Arterial tortuosity syndrome [RCV001138971]	uncertain significance	20	46734413	46734413	Human	1	name
28897478	CV886204	single nucleotide variant	NM_030777.4(SLC2A10):c.*608C>A	Arterial tortuosity syndrome [RCV001141569]	uncertain significance	20	46734442	46734442	Human	1	name
28897393	CV886205	single nucleotide variant	NM_030777.4(SLC2A10):c.*641G>A	Arterial tortuosity syndrome [RCV001141570]	benign	20	46734475	46734475	Human	1	name
28897396	CV886206	single nucleotide variant	NM_030777.4(SLC2A10):c.*659G>A	Arterial tortuosity syndrome [RCV001141571]	uncertain significance	20	46734493	46734493	Human	1	name
28897399	CV886207	single nucleotide variant	NM_030777.4(SLC2A10):c.*852T>C	Arterial tortuosity syndrome [RCV001141572]	uncertain significance	20	46734686	46734686	Human	1	name
28897402	CV886208	single nucleotide variant	NM_030777.4(SLC2A10):c.*898A>C	Arterial tortuosity syndrome [RCV001141573]	uncertain significance	20	46734732	46734732	Human	1	name
28897404	CV886209	single nucleotide variant	NM_030777.4(SLC2A10):c.*926C>T	Arterial tortuosity syndrome [RCV001141574]	uncertain significance	20	46734760	46734760	Human	1	name
150507703	CV1211242	single nucleotide variant	NM_030777.4(SLC2A10):c.4+228C>T	not provided [RCV001596361]	likely benign	20	46709968	46709968	Human		name
11623421	CV335668	single nucleotide variant	NM_030777.4(SLC2A10):c.*1162C>T	Arterial tortuosity syndrome [RCV000372757]	uncertain significance	20	46734996	46734996	Human	1	name
11616230	CV335672	single nucleotide variant	NM_030777.4(SLC2A10):c.*1394G>A	Arterial tortuosity syndrome [RCV000292991]	uncertain significance	20	46735228	46735228	Human	1	name
11658561	CV335673	single nucleotide variant	NM_030777.4(SLC2A10):c.*1628T>A	Arterial tortuosity syndrome [RCV000350169]	uncertain significance	20	46735462	46735462	Human	1	name
11650982	CV335677	single nucleotide variant	NM_030777.4(SLC2A10):c.*1858T>G	Arterial tortuosity syndrome [RCV000296293]	uncertain significance	20	46735692	46735692	Human	1	name
11663207	CV335680	deletion	NM_030777.4(SLC2A10):c.*2254del	Arterial tortuosity syndrome [RCV000393432]	uncertain significance	20	46736088	46736088	Human	1	name
11626670	CV345395	single nucleotide variant	NM_030777.4(SLC2A10):c.*1100T>G	Arterial tortuosity syndrome [RCV000267591]	benign\|likely benign	20	46734934	46734934	Human	1	name
11626290	CV345405	single nucleotide variant	NM_030777.4(SLC2A10):c.*1272G>C	Arterial tortuosity syndrome [RCV000261297]	likely benign\|uncertain significance	20	46735106	46735106	Human	1	name
11629218	CV345407	single nucleotide variant	NM_030777.4(SLC2A10):c.*1293T>C	Arterial tortuosity syndrome [RCV000318794]\|not provided [RCV004717386]	benign	20	46735127	46735127	Human	1	name
11631774	CV345409	single nucleotide variant	NM_030777.4(SLC2A10):c.*1731C>T	Arterial tortuosity syndrome [RCV000388374]	uncertain significance	20	46735565	46735565	Human	1	name
11630366	CV345411	single nucleotide variant	NM_030777.4(SLC2A10):c.*2203C>A	Arterial tortuosity syndrome [RCV000347527]	uncertain significance	20	46736037	46736037	Human	1	name
11659400	CV350059	single nucleotide variant	NM_030777.4(SLC2A10):c.*1000C>T	Arterial tortuosity syndrome [RCV000357618]	uncertain significance	20	46734834	46734834	Human	1	name
11629390	CV350060	single nucleotide variant	NM_030777.4(SLC2A10):c.*1143G>T	Arterial tortuosity syndrome [RCV000322730]	uncertain significance	20	46734977	46734977	Human	1	name
11628767	CV350063	single nucleotide variant	NM_030777.4(SLC2A10):c.*2176T>C	Arterial tortuosity syndrome [RCV000309276]\|not provided [RCV004717387]	benign	20	46736010	46736010	Human	1	name
11628499	CV350065	single nucleotide variant	NM_030777.4(SLC2A10):c.*2285T>G	Arterial tortuosity syndrome [RCV000303031]\|not provided [RCV004717388]	benign	20	46736119	46736119	Human	1	name
11631349	CV351090	single nucleotide variant	NM_030777.4(SLC2A10):c.*1340G>A	Arterial tortuosity syndrome [RCV000375694]	likely benign\|uncertain significance	20	46735174	46735174	Human	1	name
11657772	CV351091	single nucleotide variant	NM_030777.4(SLC2A10):c.*2018C>T	Arterial tortuosity syndrome [RCV000344188]	uncertain significance	20	46735852	46735852	Human	1	name
11631956	CV351094	single nucleotide variant	NM_030777.4(SLC2A10):c.*2150C>A	Arterial tortuosity syndrome [RCV000393439]	likely benign	20	46735984	46735984	Human	1	name
11630806	CV351095	single nucleotide variant	NM_030777.4(SLC2A10):c.*2316C>T	Arterial tortuosity syndrome [RCV000360083]	uncertain significance	20	46736150	46736150	Human	1	name
11632156	CV351098	single nucleotide variant	NM_030777.4(SLC2A10):c.*2365T>A	Arterial tortuosity syndrome [RCV000399854]\|not provided [RCV004717389]	benign	20	46736199	46736199	Human	1	name
14731689	CV669144	duplication	NM_030777.4(SLC2A10):c.5-121dup	not provided [RCV000836248]	likely benign	20	46724918	46724919	Human		name
14728379	CV670508	single nucleotide variant	NM_030777.4(SLC2A10):c.5-116A>G	not provided [RCV000834745]	likely benign	20	46724925	46724925	Human		name
28901981	CV886210	single nucleotide variant	NM_030777.4(SLC2A10):c.*1064G>A	Arterial tortuosity syndrome [RCV001143396]	uncertain significance	20	46734898	46734898	Human	1	name
28901983	CV886211	single nucleotide variant	NM_030777.4(SLC2A10):c.*1141G>A	Arterial tortuosity syndrome [RCV001143397]	likely benign	20	46734975	46734975	Human	1	name
28901985	CV886212	single nucleotide variant	NM_030777.4(SLC2A10):c.*1230C>T	Arterial tortuosity syndrome [RCV001143398]	uncertain significance	20	46735064	46735064	Human	1	name
28901988	CV886213	single nucleotide variant	NM_030777.4(SLC2A10):c.*1249G>A	Arterial tortuosity syndrome [RCV001143399]	uncertain significance	20	46735083	46735083	Human	1	name
28883090	CV886214	single nucleotide variant	NM_030777.4(SLC2A10):c.*1449T>C	Arterial tortuosity syndrome [RCV001136821]	likely benign	20	46735283	46735283	Human	1	name
28883094	CV886215	single nucleotide variant	NM_030777.4(SLC2A10):c.*1502C>T	Arterial tortuosity syndrome [RCV001136822]	uncertain significance	20	46735336	46735336	Human	1	name
28883096	CV886216	single nucleotide variant	NM_030777.4(SLC2A10):c.*1715G>A	Arterial tortuosity syndrome [RCV001136823]	uncertain significance	20	46735549	46735549	Human	1	name
28890518	CV886217	single nucleotide variant	NM_030777.4(SLC2A10):c.*1758A>C	Arterial tortuosity syndrome [RCV001139065]	uncertain significance	20	46735592	46735592	Human	1	name
28890522	CV886218	single nucleotide variant	NM_030777.4(SLC2A10):c.*2098A>G	Arterial tortuosity syndrome [RCV001139066]	uncertain significance	20	46735932	46735932	Human	1	name
28890526	CV886219	single nucleotide variant	NM_030777.4(SLC2A10):c.*2137C>G	Arterial tortuosity syndrome [RCV001139067]	uncertain significance	20	46735971	46735971	Human	1	name
28897692	CV886220	single nucleotide variant	NM_030777.4(SLC2A10):c.*2409A>G	Arterial tortuosity syndrome [RCV001141678]	uncertain significance	20	46736243	46736243	Human	1	name
28897694	CV886221	single nucleotide variant	NM_030777.4(SLC2A10):c.*2482T>A	Arterial tortuosity syndrome [RCV001141679]	uncertain significance	20	46736316	46736316	Human	1	name
151848625	CV1439889	single nucleotide variant	NM_030777.4(SLC2A10):c.1548-2A>T	Arterial tortuosity syndrome [RCV002016279]	uncertain significance	20	46733754	46733754	Human	1	name
10450032	CV170951	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+1G>A	Arterial tortuosity syndrome [RCV000202532]	pathogenic\|not provided	20	46726987	46726987	Human	1	name
156438784	CV1947403	single nucleotide variant	NM_030777.4(SLC2A10):c.1548-9G>C	Arterial tortuosity syndrome [RCV003108731]	likely benign	20	46733747	46733747	Human	1	name
156278446	CV2011442	single nucleotide variant	NM_030777.4(SLC2A10):c.1289-3T>G	Arterial tortuosity syndrome [RCV002715217]	uncertain significance	20	46726861	46726861	Human	1	name
155983013	CV2098291	single nucleotide variant	NM_030777.4(SLC2A10):c.1288+9A>C	Arterial tortuosity syndrome [RCV002907794]	likely benign	20	46726333	46726333	Human	1	name
10410197	CV210382	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+2T>A	Arterial tortuosity syndrome [RCV001781572]\|not provided [RCV000197685]	pathogenic\|likely pathogenic	20	46726988	46726988	Human	1	name
156292525	CV2183070	single nucleotide variant	NM_030777.4(SLC2A10):c.1289-2A>G	Arterial tortuosity syndrome [RCV003027738]	likely pathogenic	20	46726862	46726862	Human	1	name
243055941	CV2416687	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+5G>A	Familial thoracic aortic aneurysm and aortic dissection [RCV003150772]	uncertain significance	20	46726991	46726991	Human	1	name
12846485	CV378262	single nucleotide variant	NM_030777.4(SLC2A10):c.1289-6C>T	Arterial tortuosity syndrome [RCV000472232]\|not specified [RCV000441732]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46726858	46726858	Human	1	name
12835383	CV379704	single nucleotide variant	NM_030777.4(SLC2A10):c.1412-3C>T	Arterial tortuosity syndrome [RCV000808509]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313128]\|not specified [RCV000421568]	likely benign\|uncertain significance	20	46729350	46729350	Human	2	name
14709582	CV653653	single nucleotide variant	NM_030777.4(SLC2A10):c.1288+2T>C	Arterial tortuosity syndrome [RCV000812297]	likely pathogenic	20	46726326	46726326	Human	1	name
150407990	CV1195501	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+23C>T	not provided [RCV001572498]	likely benign	20	46727009	46727009	Human		name
8692912	CV142878	single nucleotide variant	NM_030777.4(SLC2A10):c.1288+10G>A	Arterial tortuosity syndrome [RCV000205809]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171031]\|not provided [RCV004717061]\|not specified [RCV000128125]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46726334	46726334	Human	2	name
8692915	CV142881	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+18T>G	Arterial tortuosity syndrome [RCV001808353]\|not provided [RCV004717063]\|not specified [RCV000128128]	benign	20	46729506	46729506	Human	1	name
8692916	CV142882	single nucleotide variant	NM_030777.4(SLC2A10):c.1548-19C>T	Arterial tortuosity syndrome [RCV002055809]\|not specified [RCV000128129]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46733737	46733737	Human	1	name
8692917	CV142883	single nucleotide variant	NM_030777.4(SLC2A10):c.1548-18G>A	Arterial tortuosity syndrome [RCV001803011]\|not specified [RCV000128130]	benign	20	46733738	46733738	Human	1	name
152129626	CV1550830	deletion	NM_030777.4(SLC2A10):c.5-9_5-6del	Arterial tortuosity syndrome [RCV002155350]	likely benign	20	46725029	46725032	Human	1	name
152136401	CV1595136	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+16G>A	Arterial tortuosity syndrome [RCV002200001]	likely benign	20	46729504	46729504	Human	1	name
152146176	CV1649494	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+12C>T	Arterial tortuosity syndrome [RCV002121074]	likely benign	20	46726998	46726998	Human	1	name
156328273	CV1887485	single nucleotide variant	NM_030777.4(SLC2A10):c.1288+20A>G	Arterial tortuosity syndrome [RCV003089631]	likely benign	20	46726344	46726344	Human	1	name
156413286	CV1904817	single nucleotide variant	NM_030777.4(SLC2A10):c.1289-18C>G	Arterial tortuosity syndrome [RCV002588115]	likely benign	20	46726846	46726846	Human	1	name
156166522	CV2045203	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+16G>C	Arterial tortuosity syndrome [RCV002741730]	likely benign	20	46729504	46729504	Human	1	name
405130487	CV2895347	duplication	NM_030777.4(SLC2A10):c.1547+17dup	Arterial tortuosity syndrome [RCV003502083]\|not specified [RCV004690439]	likely benign	20	46729502	46729503	Human	1	name
405133336	CV2904497	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+16A>G	Arterial tortuosity syndrome [RCV003502382]	likely benign	20	46727002	46727002	Human	1	name
405068925	CV3049545	deletion	NM_030777.4(SLC2A10):c.1547+14del	Arterial tortuosity syndrome [RCV003612014]	likely benign	20	46729502	46729502	Human	1	name
405071451	CV3062248	single nucleotide variant	NM_030777.4(SLC2A10):c.1288+19C>T	Arterial tortuosity syndrome [RCV003612186]	likely benign	20	46726343	46726343	Human	1	name
597857271	CV3769469	single nucleotide variant	NM_030777.4(SLC2A10):c.1289-16T>C	Arterial tortuosity syndrome [RCV005105510]	likely benign	20	46726848	46726848	Human	1	name
597947690	CV3771742	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+16G>T	Arterial tortuosity syndrome [RCV005120267]	likely benign	20	46729504	46729504	Human	1	name
12845287	CV378055	single nucleotide variant	NM_030777.4(SLC2A10):c.1412-13C>T	Arterial tortuosity syndrome [RCV001865340]\|not specified [RCV000439543]	likely benign	20	46729340	46729340	Human	1	name
12837040	CV379705	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+19G>A	Arterial tortuosity syndrome [RCV002059777]\|not specified [RCV000424467]	likely benign	20	46729507	46729507	Human	1	name
597913034	CV3850731	single nucleotide variant	NM_030777.4(SLC2A10):c.1548-10T>C	Arterial tortuosity syndrome [RCV005203879]	likely benign	20	46733746	46733746	Human	1	name
14724697	CV669152	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+96C>T	not provided [RCV000833102]	benign	20	46729584	46729584	Human		name
14730756	CV669154	single nucleotide variant	NM_030777.4(SLC2A10):c.1548-61C>G	not provided [RCV000835822]	likely benign	20	46733695	46733695	Human		name
14735440	CV670216	deletion	NM_030777.4(SLC2A10):c.1547+18del	not provided [RCV000838009]	likely benign	20	46729506	46729506	Human		name
15202237	CV776661	deletion	NM_030777.4(SLC2A10):c.5-9_5-7del	Arterial tortuosity syndrome [RCV001448795]	likely benign	20	46725030	46725032	Human	1	name
150410545	CV1178471	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+156T>G	not provided [RCV001546700]	likely benign	20	46729644	46729644	Human		name
150426018	CV1185559	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+152T>G	not provided [RCV001558796]	likely benign	20	46729640	46729640	Human		name
150463023	CV1206671	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+153T>G	not provided [RCV001587072]	likely benign	20	46729641	46729641	Human		name
150508741	CV1214120	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+255G>A	not provided [RCV001596641]	likely benign	20	46729743	46729743	Human		name
150439076	CV1264920	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+155T>G	not provided [RCV001678913]	benign	20	46729643	46729643	Human		name
14725022	CV670213	deletion	NM_030777.4(SLC2A10):c.1411+181del	not provided [RCV000833247]	benign	20	46727167	46727167	Human		name
14725774	CV670509	single nucleotide variant	NM_030777.4(SLC2A10):c.1411+176G>C	not provided [RCV000833584]	benign	20	46727162	46727162	Human		name
14724656	CV670512	single nucleotide variant	NM_030777.4(SLC2A10):c.1412-114A>G	not provided [RCV000833085]	benign	20	46729239	46729239	Human		name
14735854	CV670513	single nucleotide variant	NM_030777.4(SLC2A10):c.1547+223G>T	not provided [RCV000838205]	benign	20	46729711	46729711	Human		name
150482120	CV1261569	microsatellite	NM_030777.4(SLC2A10):c.5-234GGAT[9]	not provided [RCV001686172]	benign	20	46724807	46724810	Human		name
150471781	CV1270144	microsatellite	NM_030777.4(SLC2A10):c.5-165GGAT[9]	not provided [RCV001695432]	benign	20	46724875	46724876	Human		name
11621873	CV335656	deletion	NM_030777.4(SLC2A10):c.470_472del	Arterial tortuosity syndrome [RCV000352882]	uncertain significance	20	46734295	46734297	Human	1	name
616935997	CV4010638	single nucleotide variant	NM_030777.4(SLC2A10):c.1412-1116C>T	not specified [RCV005403984]	benign	20	46728237	46728237	Human		name
150507867	CV1229195	microsatellite	NM_030777.4(SLC2A10):c.5-165GGAT[10]	not provided [RCV001636066]	benign	20	46724875	46724876	Human		name
150449792	CV1232594	microsatellite	NM_030777.4(SLC2A10):c.5-165GGAT[11]	not provided [RCV001647668]	benign	20	46724875	46724876	Human		name
150478671	CV1273333	microsatellite	NM_030777.4(SLC2A10):c.5-234GGAT[11]	not provided [RCV001696536]	benign	20	46724806	46724807	Human		name
150419008	CV1181864	deletion	NM_030777.4(SLC2A10):c.5-135_5-131del	not provided [RCV001550849]	likely benign	20	46724906	46724910	Human		name
11651151	CV335682	deletion	NM_030777.4(SLC2A10):c.2416_2418del	Arterial tortuosity syndrome [RCV000297388]	uncertain significance	20	46736248	46736250	Human	1	name
15200682	CV773141	single nucleotide variant	NM_030777.4(SLC2A10):c.9C>T (p.His3=)	Arterial tortuosity syndrome [RCV001496719]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004029623]	likely benign	20	46725045	46725045	Human	2	name
152091892	CV1602935	single nucleotide variant	NM_030777.4(SLC2A10):c.18T>C (p.Pro6=)	Arterial tortuosity syndrome [RCV002194406]	likely benign	20	46725054	46725054	Human	1	name
156175589	CV2038200	single nucleotide variant	NM_030777.4(SLC2A10):c.12C>A (p.Ser4=)	Arterial tortuosity syndrome [RCV002742001]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003308263]	likely benign	20	46725048	46725048	Human	2	name
150541244	CV1301230	deletion	NM_030777.4(SLC2A10):c.1411+4_1411+5del	not provided [RCV001767640]	uncertain significance	20	46726989	46726990	Human		name
155740150	CV1798854	single nucleotide variant	NM_030777.4(SLC2A10):c.48G>A (p.Leu16=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002332409]	likely benign	20	46725084	46725084	Human	1	name
156237817	CV1973075	deletion	NM_030777.4(SLC2A10):c.10del (p.Ser4fs)	Arterial tortuosity syndrome [RCV002597043]	pathogenic	20	46725046	46725046	Human	1	name
156326968	CV2068691	single nucleotide variant	NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)	Arterial tortuosity syndrome [RCV002835072]	pathogenic\|conflicting interpretations of pathogenicity	20	46709737	46709737	Human	1	name
156011958	CV2124653	single nucleotide variant	NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)	Arterial tortuosity syndrome [RCV002948318]	uncertain significance	20	46709740	46709740	Human	1	name
156273586	CV2132928	single nucleotide variant	NM_030777.4(SLC2A10):c.54T>A (p.Gly18=)	Arterial tortuosity syndrome [RCV003009353]	likely benign	20	46725090	46725090	Human	1	name
402465430	CV2909285	single nucleotide variant	NM_030777.4(SLC2A10):c.51G>T (p.Leu17=)	Arterial tortuosity syndrome [RCV003503007]	likely benign	20	46725087	46725087	Human	1	name
405065174	CV2940693	single nucleotide variant	NM_030777.4(SLC2A10):c.30G>A (p.Leu10=)	Arterial tortuosity syndrome [RCV003611742]	likely benign	20	46725066	46725066	Human	1	name
407509737	CV3474196	single nucleotide variant	NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)	Arterial tortuosity syndrome [RCV005023620]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004672470]	likely pathogenic	20	46709737	46709737	Human	2	name
597629253	CV3602823	single nucleotide variant	NM_030777.4(SLC2A10):c.46T>C (p.Leu16=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821741]	likely benign	20	46725082	46725082	Human	1	name
597917514	CV3789585	single nucleotide variant	NM_030777.4(SLC2A10):c.58C>T (p.Leu20=)	Arterial tortuosity syndrome [RCV005129680]	likely benign	20	46725094	46725094	Human	1	name
597957884	CV3814487	deletion	NM_030777.4(SLC2A10):c.22del (p.Leu8fs)	Arterial tortuosity syndrome [RCV005162818]	pathogenic	20	46725057	46725057	Human	1	name
597930683	CV3862360	single nucleotide variant	NM_030777.4(SLC2A10):c.1A>C (p.Met1Leu)	Arterial tortuosity syndrome [RCV005206605]	pathogenic	20	46709737	46709737	Human	1	name
13498614	CV469391	single nucleotide variant	NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala)	Arterial tortuosity syndrome [RCV000529596]	uncertain significance	20	46725041	46725041	Human	1	name
13538560	CV507173	single nucleotide variant	NM_030777.4(SLC2A10):c.54T>C (p.Gly18=)	not specified [RCV000612012]	likely benign	20	46725090	46725090	Human		name
14705143	CV648744	single nucleotide variant	NM_030777.4(SLC2A10):c.8A>C (p.His3Pro)	Arterial tortuosity syndrome [RCV000808019]	uncertain significance	20	46725044	46725044	Human	1	name
15116871	CV757577	single nucleotide variant	NM_030777.4(SLC2A10):c.57C>T (p.Gly19=)	not provided [RCV000917700]	likely benign	20	46725093	46725093	Human		name
150471509	CV1248239	single nucleotide variant	NM_030777.4(SLC2A10):c.120T>C (p.Phe40=)	Arterial tortuosity syndrome [RCV003502599]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002359215]\|not provided [RCV001671277]	likely benign	20	46725156	46725156	Human	2	name
8692906	CV142872	single nucleotide variant	NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)	Arterial tortuosity syndrome [RCV000357718]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798428]\|not specified [RCV000128119]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725273	46725273	Human	2	name
152166683	CV1524431	single nucleotide variant	NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)	Arterial tortuosity syndrome [RCV002141975]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004671652]\|SLC2A10-related disorder [RCV003895828]	likely benign	20	46725198	46725198	Human	2	name , trait , alternate_id
152025609	CV1586437	single nucleotide variant	NM_030777.4(SLC2A10):c.114T>G (p.Leu38=)	Arterial tortuosity syndrome [RCV002184877]	likely benign	20	46725150	46725150	Human	1	name
155707315	CV1833398	single nucleotide variant	NM_030777.4(SLC2A10):c.153G>A (p.Val51=)	Arterial tortuosity syndrome [RCV003095305]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002403136]	likely benign\|uncertain significance	20	46725189	46725189	Human	2	name
155671204	CV1843674	single nucleotide variant	NM_030777.4(SLC2A10):c.204C>T (p.Leu68=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002420058]	likely benign	20	46725240	46725240	Human	1	name
155671042	CV1849110	single nucleotide variant	NM_030777.4(SLC2A10):c.26C>T (p.Pro9Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV002453214]	uncertain significance	20	46725062	46725062	Human	1	name
155687523	CV1853653	single nucleotide variant	NM_030777.4(SLC2A10):c.294G>A (p.Leu98=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002441848]	likely benign	20	46725330	46725330	Human	1	name
156446214	CV1951248	single nucleotide variant	NM_030777.4(SLC2A10):c.252G>C (p.Val84=)	Arterial tortuosity syndrome [RCV003117181]	likely benign	20	46725288	46725288	Human	1	name
156415988	CV1966382	single nucleotide variant	NM_030777.4(SLC2A10):c.273C>G (p.Thr91=)	Arterial tortuosity syndrome [RCV002589467]	likely benign	20	46725309	46725309	Human	1	name
156011982	CV2096259	single nucleotide variant	NM_030777.4(SLC2A10):c.231C>T (p.Ala77=)	Arterial tortuosity syndrome [RCV002909160]	likely benign	20	46725267	46725267	Human	1	name
156305073	CV2129718	single nucleotide variant	NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)	Arterial tortuosity syndrome [RCV002962325]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823083]	likely benign	20	46725222	46725222	Human	2	name
329378805	CV2432760	single nucleotide variant	NM_030777.4(SLC2A10):c.183C>G (p.Ala61=)	Arterial tortuosity syndrome [RCV003502698]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003186941]	likely benign	20	46725219	46725219	Human	2	name
11347159	CV243581	single nucleotide variant	NM_030777.4(SLC2A10):c.252G>A (p.Val84=)	Arterial tortuosity syndrome [RCV000231255]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004020883]\|not provided [RCV001556651]\|not specified [RCV004800356]	likely benign\|uncertain significance	20	46725288	46725288	Human	2	name
11545077	CV259079	single nucleotide variant	NM_030777.4(SLC2A10):c.144G>A (p.Glu48=)	Arterial tortuosity syndrome [RCV002059035]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311105]	likely benign	20	46725180	46725180	Human	2	name
401722510	CV2737019	duplication	NM_030777.4(SLC2A10):c.56dup (p.Leu20fs)	Arterial tortuosity syndrome [RCV003313763]	likely pathogenic	20	46725090	46725091	Human	1	name
402469565	CV2884634	single nucleotide variant	NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)	Arterial tortuosity syndrome [RCV003504130]	likely benign	20	46725282	46725282	Human	1	name
402470268	CV2888403	single nucleotide variant	NM_030777.4(SLC2A10):c.219C>T (p.Gly73=)	Arterial tortuosity syndrome [RCV003504202]	likely benign	20	46725255	46725255	Human	1	name
402465520	CV2920142	single nucleotide variant	NM_030777.4(SLC2A10):c.192T>G (p.Val64=)	Arterial tortuosity syndrome [RCV003503029]	likely benign	20	46725228	46725228	Human	1	name
405059616	CV3034604	single nucleotide variant	NM_030777.4(SLC2A10):c.292C>T (p.Leu98=)	Arterial tortuosity syndrome [RCV003611154]	likely benign	20	46725328	46725328	Human	1	name
405683338	CV3387836	single nucleotide variant	NM_030777.4(SLC2A10):c.168G>A (p.Leu56=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517811]	likely benign	20	46725204	46725204	Human	1	name
597629391	CV3602822	single nucleotide variant	NM_030777.4(SLC2A10):c.258G>A (p.Leu86=)	Arterial tortuosity syndrome [RCV005107877]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004821740]	likely benign	20	46725294	46725294	Human	2	name
597958120	CV3796908	single nucleotide variant	NM_030777.4(SLC2A10):c.204C>A (p.Leu68=)	Arterial tortuosity syndrome [RCV005137806]	likely benign	20	46725240	46725240	Human	1	name
597971862	CV3798939	single nucleotide variant	NM_030777.4(SLC2A10):c.291C>T (p.Ser97=)	Arterial tortuosity syndrome [RCV005142351]	likely benign	20	46725327	46725327	Human	1	name
12888099	CV404177	single nucleotide variant	NM_030777.4(SLC2A10):c.267C>T (p.Ser89=)	Arterial tortuosity syndrome [RCV001463479]	likely benign	20	46725303	46725303	Human	1	name
13436024	CV433924	single nucleotide variant	NM_030777.4(SLC2A10):c.180C>T (p.Leu60=)	Arterial tortuosity syndrome [RCV001491029]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003302745]\|not provided [RCV001764507]\|not specified [RCV000506440]	likely benign	20	46725216	46725216	Human	2	name
13464373	CV471423	single nucleotide variant	NM_030777.4(SLC2A10):c.189G>C (p.Leu63=)	Arterial tortuosity syndrome [RCV000541771]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002413552]\|not provided [RCV001712510]	likely benign	20	46725225	46725225	Human	2	name
13525880	CV507784	single nucleotide variant	NM_030777.4(SLC2A10):c.237C>A (p.Leu79=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002448877]\|not specified [RCV000603515]	likely benign	20	46725273	46725273	Human	1	name
14743316	CV656634	single nucleotide variant	NM_030777.4(SLC2A10):c.195T>A (p.Gly65=)	Arterial tortuosity syndrome [RCV002538320]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004669152]\|not provided [RCV000841970]	likely benign	20	46725231	46725231	Human	2	name
15133404	CV773142	single nucleotide variant	NM_030777.4(SLC2A10):c.264C>G (p.Gly88=)	Arterial tortuosity syndrome [RCV001484283]	likely benign	20	46725300	46725300	Human	1	name
15178547	CV773143	single nucleotide variant	NM_030777.4(SLC2A10):c.297C>T (p.Ala99=)	Arterial tortuosity syndrome [RCV005092807]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005268819]	likely benign	20	46725333	46725333	Human	2	name
127249370	CV1107100	single nucleotide variant	NM_030777.4(SLC2A10):c.831C>T (p.Gly277=)	Arterial tortuosity syndrome [RCV001425098]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003160703]\|not provided [RCV002285483]	likely benign	20	46725867	46725867	Human	2	name
127276781	CV1107101	single nucleotide variant	NM_030777.4(SLC2A10):c.960C>T (p.Ala320=)	Arterial tortuosity syndrome [RCV001444003]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005278857]	likely benign	20	46725996	46725996	Human	2	name
127293328	CV1128523	single nucleotide variant	NM_030777.4(SLC2A10):c.681C>T (p.Asn227=)	Arterial tortuosity syndrome [RCV001451958]\|not specified [RCV005408910]	likely benign	20	46725717	46725717	Human	1	name
127292922	CV1128524	single nucleotide variant	NM_030777.4(SLC2A10):c.831C>A (p.Gly277=)	Arterial tortuosity syndrome [RCV001451855]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004038502]	likely benign	20	46725867	46725867	Human	2	name
127329768	CV1149508	single nucleotide variant	NM_030777.4(SLC2A10):c.621C>G (p.Pro207=)	Arterial tortuosity syndrome [RCV001487673]\|SLC2A10-related disorder [RCV003900686]	likely benign	20	46725657	46725657	Human	1	name , trait , alternate_id
127315304	CV1149509	single nucleotide variant	NM_030777.4(SLC2A10):c.645G>C (p.Arg215=)	Arterial tortuosity syndrome [RCV001482494]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822406]\|not provided [RCV001581156]	likely benign	20	46725681	46725681	Human	2	name
150336464	CV1166348	single nucleotide variant	NM_030777.4(SLC2A10):c.939C>G (p.Gly313=)	not provided [RCV001531965]	likely benign	20	46725975	46725975	Human		name
150418242	CV1199223	single nucleotide variant	NM_030777.4(SLC2A10):c.807C>T (p.Ala269=)	Arterial tortuosity syndrome [RCV003611553]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002414276]\|not provided [RCV001576656]	likely benign	20	46725843	46725843	Human	2	name
8692908	CV142874	single nucleotide variant	NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)	Arterial tortuosity syndrome [RCV001086887]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770703]\|not provided [RCV000755386]\|not specified [RCV000128121]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46725402	46725402	Human	2	name
8692910	CV142876	single nucleotide variant	NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)	Arterial tortuosity syndrome [RCV000228430]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171029]\|not provided [RCV003436949]\|not specified [RCV000128123]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46725852	46725852	Human	2	name
152028061	CV1521212	single nucleotide variant	NM_030777.4(SLC2A10):c.303G>T (p.Leu101=)	Arterial tortuosity syndrome [RCV002085335]	likely benign	20	46725339	46725339	Human	1	name
152135887	CV1560488	single nucleotide variant	NM_030777.4(SLC2A10):c.897G>A (p.Leu299=)	Arterial tortuosity syndrome [RCV002137535]	likely benign	20	46725933	46725933	Human	1	name
152087199	CV1578313	single nucleotide variant	NM_030777.4(SLC2A10):c.861C>G (p.Ala287=)	Arterial tortuosity syndrome [RCV002171333]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002372960]	likely benign	20	46725897	46725897	Human	2	name
152136608	CV1580286	single nucleotide variant	NM_030777.4(SLC2A10):c.615G>A (p.Glu205=)	Arterial tortuosity syndrome [RCV002156219]	likely benign	20	46725651	46725651	Human	1	name
152076811	CV1607047	single nucleotide variant	NM_030777.4(SLC2A10):c.816C>T (p.Ala272=)	Arterial tortuosity syndrome [RCV002130331]	likely benign	20	46725852	46725852	Human	1	name
152155922	CV1629627	single nucleotide variant	NM_030777.4(SLC2A10):c.354T>G (p.Ala118=)	Arterial tortuosity syndrome [RCV002202647]	likely benign	20	46725390	46725390	Human	1	name
152168113	CV1645038	single nucleotide variant	NM_030777.4(SLC2A10):c.411C>T (p.Ser137=)	Arterial tortuosity syndrome [RCV002142333]	likely benign	20	46725447	46725447	Human	1	name
155669017	CV1800006	single nucleotide variant	NM_030777.4(SLC2A10):c.546C>A (p.Leu182=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002349760]	likely benign	20	46725582	46725582	Human	1	name
155679951	CV1807097	single nucleotide variant	NM_030777.4(SLC2A10):c.585C>T (p.His195=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002353386]	likely benign	20	46725621	46725621	Human	1	name
155716284	CV1812541	single nucleotide variant	NM_030777.4(SLC2A10):c.696C>T (p.Thr232=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002362509]	likely benign	20	46725732	46725732	Human	1	name
155706629	CV1818569	single nucleotide variant	NM_030777.4(SLC2A10):c.675C>T (p.Arg225=)	Arterial tortuosity syndrome [RCV003108049]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377971]	likely benign	20	46725711	46725711	Human	2	name
155666543	CV1819542	single nucleotide variant	NM_030777.4(SLC2A10):c.741G>A (p.Gln247=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002384972]	likely benign	20	46725777	46725777	Human	1	name
155674354	CV1820391	single nucleotide variant	NM_030777.4(SLC2A10):c.816C>A (p.Ala272=)	Arterial tortuosity syndrome [RCV003611597]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002421460]	likely benign	20	46725852	46725852	Human	2	name
155726852	CV1822314	single nucleotide variant	NM_030777.4(SLC2A10):c.699A>C (p.Thr233=)	Arterial tortuosity syndrome [RCV003611593]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002364699]	likely benign	20	46725735	46725735	Human	2	name
156060321	CV1915592	single nucleotide variant	NM_030777.4(SLC2A10):c.930C>T (p.Ser310=)	Arterial tortuosity syndrome [RCV002620926]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004070618]	likely benign	20	46725966	46725966	Human	2	name
156336419	CV1966933	single nucleotide variant	NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly)	Arterial tortuosity syndrome [RCV002601056]	uncertain significance	20	46725131	46725131	Human	1	name
156246172	CV1969550	single nucleotide variant	NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)	Arterial tortuosity syndrome [RCV002597315]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005281187]	uncertain significance	20	46725083	46725083	Human	2	name
156226735	CV2006077	single nucleotide variant	NM_030777.4(SLC2A10):c.432C>A (p.Thr144=)	Arterial tortuosity syndrome [RCV002667430]	likely benign	20	46725468	46725468	Human	1	name
10409518	CV210362	single nucleotide variant	NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)	Arterial tortuosity syndrome [RCV000295195]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770706]\|not provided [RCV001580088]\|not specified [RCV000196275]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725801	46725801	Human	2	name
10410563	CV210363	single nucleotide variant	NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)	Arterial tortuosity syndrome [RCV000644034]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002408872]\|not provided [RCV001726041]\|not specified [RCV000198441]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46725816	46725816	Human	2	name
156120317	CV2107561	single nucleotide variant	NM_030777.4(SLC2A10):c.609A>G (p.Gly203=)	Arterial tortuosity syndrome [RCV002914137]	likely benign	20	46725645	46725645	Human	1	name
155965476	CV2142510	single nucleotide variant	NM_030777.4(SLC2A10):c.699A>G (p.Thr233=)	Arterial tortuosity syndrome [RCV002995363]	likely benign	20	46725735	46725735	Human	1	name
11349061	CV243582	single nucleotide variant	NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)	Arterial tortuosity syndrome [RCV000229091]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356311]\|SLC2A10-related disorder [RCV003930001]\|not provided [RCV001705287]\|not specified [RCV003323473]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725666	46725666	Human	2	name , trait , alternate_id
11350391	CV243584	single nucleotide variant	NM_030777.4(SLC2A10):c.696C>G (p.Thr232=)	Arterial tortuosity syndrome [RCV000234521]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002365216]\|not provided [RCV001578214]	likely benign	20	46725732	46725732	Human	2	name
11544265	CV257363	single nucleotide variant	NM_030777.4(SLC2A10):c.633G>A (p.Pro211=)	Arterial tortuosity syndrome [RCV002518657]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171027]\|not specified [RCV000243555]	likely benign	20	46725669	46725669	Human	2	name
11545689	CV259070	single nucleotide variant	NM_030777.4(SLC2A10):c.315C>T (p.Arg105=)	Arterial tortuosity syndrome [RCV000471356]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822027]\|not provided [RCV001705390]\|not specified [RCV002271481]	likely benign	20	46725351	46725351	Human	2	name
401775575	CV2724144	single nucleotide variant	NM_030777.4(SLC2A10):c.747C>T (p.Asn249=)	Arterial tortuosity syndrome [RCV005102680]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003305664]\|SLC2A10-related disorder [RCV003906686]	likely benign	20	46725783	46725783	Human	2	name , trait , alternate_id
401784380	CV2730305	single nucleotide variant	NM_030777.4(SLC2A10):c.324T>C (p.Val108=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003310533]	likely benign	20	46725360	46725360	Human	1	name
401722513	CV2737021	single nucleotide variant	NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)	Arterial tortuosity syndrome [RCV003313765]	likely pathogenic	20	46725104	46725104	Human	1	name
401739444	CV2738569	single nucleotide variant	NM_030777.4(SLC2A10):c.546C>T (p.Leu182=)	not specified [RCV003317961]	likely benign	20	46725582	46725582	Human		name
401887023	CV2784436	single nucleotide variant	NM_030777.4(SLC2A10):c.516T>A (p.Thr172=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003387412]	likely benign	20	46725552	46725552	Human	1	name
402465064	CV2858517	single nucleotide variant	NM_030777.4(SLC2A10):c.639G>A (p.Arg213=)	Arterial tortuosity syndrome [RCV003502909]	likely benign	20	46725675	46725675	Human	1	name
405133774	CV2912642	single nucleotide variant	NM_030777.4(SLC2A10):c.897G>C (p.Leu299=)	Arterial tortuosity syndrome [RCV003502428]	likely benign	20	46725933	46725933	Human	1	name
405133537	CV2918660	single nucleotide variant	NM_030777.4(SLC2A10):c.579A>G (p.Ala193=)	Arterial tortuosity syndrome [RCV003502405]	likely benign	20	46725615	46725615	Human	1	name
405060560	CV3039752	single nucleotide variant	NM_030777.4(SLC2A10):c.801C>T (p.Ser267=)	Arterial tortuosity syndrome [RCV003611288]	likely benign	20	46725837	46725837	Human	1	name
405072357	CV3063102	single nucleotide variant	NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile)	Arterial tortuosity syndrome [RCV003612248]	uncertain significance	20	46725118	46725118	Human	1	name
405075100	CV3072014	single nucleotide variant	NM_030777.4(SLC2A10):c.333C>T (p.Ala111=)	Arterial tortuosity syndrome [RCV003612462]	likely benign	20	46725369	46725369	Human	1	name
405210644	CV3145917	deletion	NM_030777.4(SLC2A10):c.289del (p.Ser97fs)	Arterial tortuosity syndrome [RCV003845647]	pathogenic	20	46725324	46725324	Human	1	name
405268196	CV3198808	single nucleotide variant	NM_030777.4(SLC2A10):c.954C>T (p.Ser318=)	SLC2A10-related disorder [RCV003911931]	likely benign	20	46725990	46725990	Human		name , trait , alternate_id
11612518	CV335633	single nucleotide variant	NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)	Arterial tortuosity syndrome [RCV000260059]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314063]\|SLC2A10-related disorder [RCV003932354]\|not provided [RCV001705507]\|not specified [RCV003330648]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725366	46725366	Human	2	name , trait , alternate_id
405683352	CV3387840	single nucleotide variant	NM_030777.4(SLC2A10):c.603C>T (p.Leu201=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517815]	likely benign	20	46725639	46725639	Human	1	name
405683355	CV3387841	single nucleotide variant	NM_030777.4(SLC2A10):c.714G>A (p.Leu238=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517816]	likely benign	20	46725750	46725750	Human	1	name
405683358	CV3387842	single nucleotide variant	NM_030777.4(SLC2A10):c.88T>C (p.Ser30Pro)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517817]	uncertain significance	20	46725124	46725124	Human	1	name
407457478	CV3416170	single nucleotide variant	NM_030777.4(SLC2A10):c.624G>A (p.Lys208=)	not provided [RCV004599048]	likely benign	20	46725660	46725660	Human		name
11652054	CV351082	single nucleotide variant	NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe)	Arterial tortuosity syndrome [RCV000302783]	uncertain significance	20	46725107	46725107	Human	1	name
11627058	CV351083	single nucleotide variant	NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)	Arterial tortuosity syndrome [RCV000275279]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314064]\|not provided [RCV001718719]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725661	46725661	Human	2	name
11629570	CV351086	single nucleotide variant	NM_030777.4(SLC2A10):c.810G>C (p.Val270=)	Arterial tortuosity syndrome [RCV000326716]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822036]\|not specified [RCV000611666]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725846	46725846	Human	2	name
597629246	CV3602820	single nucleotide variant	NM_030777.4(SLC2A10):c.309G>A (p.Leu103=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821738]	likely benign	20	46725345	46725345	Human	1	name
597691670	CV3720840	deletion	NM_030777.4(SLC2A10):c.187del (p.Leu63fs)	Arterial tortuosity syndrome [RCV005032553]	likely pathogenic	20	46725221	46725221	Human	1	name
597942835	CV3757877	single nucleotide variant	NM_030777.4(SLC2A10):c.345C>T (p.Ser115=)	Arterial tortuosity syndrome [RCV005077876]	likely benign	20	46725381	46725381	Human	1	name
12838320	CV377045	single nucleotide variant	NM_030777.4(SLC2A10):c.792T>C (p.His264=)	Arterial tortuosity syndrome [RCV000869445]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313142]\|SLC2A10-related disorder [RCV003932684]\|not specified [RCV000426744]	likely benign	20	46725828	46725828	Human	2	name , trait , alternate_id
597913664	CV3778739	single nucleotide variant	NM_030777.4(SLC2A10):c.996G>A (p.Val332=)	Arterial tortuosity syndrome [RCV005129084]	likely benign	20	46726032	46726032	Human	1	name
597941656	CV3785842	single nucleotide variant	NM_030777.4(SLC2A10):c.363C>A (p.Ile121=)	Arterial tortuosity syndrome [RCV005133735]	likely benign	20	46725399	46725399	Human	1	name
597940656	CV3789041	single nucleotide variant	NM_030777.4(SLC2A10):c.712C>T (p.Leu238=)	Arterial tortuosity syndrome [RCV005133504]	likely benign	20	46725748	46725748	Human	1	name
12844995	CV379702	single nucleotide variant	NM_030777.4(SLC2A10):c.873G>A (p.Val291=)	Arterial tortuosity syndrome [RCV000533325]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002374662]\|not provided [RCV000439009]	likely benign\|uncertain significance	20	46725909	46725909	Human	2	name
12843069	CV379703	single nucleotide variant	NM_030777.4(SLC2A10):c.948C>T (p.Leu316=)	Arterial tortuosity syndrome [RCV000952615]\|not provided [RCV001704524]	likely benign	20	46725984	46725984	Human	1	name
597961201	CV3812078	single nucleotide variant	NM_030777.4(SLC2A10):c.901C>T (p.Leu301=)	Arterial tortuosity syndrome [RCV005163731]	likely benign	20	46725937	46725937	Human	1	name
597930132	CV3837531	single nucleotide variant	NM_030777.4(SLC2A10):c.447C>T (p.Leu149=)	Arterial tortuosity syndrome [RCV005185689]	likely benign	20	46725483	46725483	Human	1	name
597905774	CV3846604	single nucleotide variant	NM_030777.4(SLC2A10):c.621C>A (p.Pro207=)	Arterial tortuosity syndrome [RCV005182031]	likely benign	20	46725657	46725657	Human	1	name
597909724	CV3850034	single nucleotide variant	NM_030777.4(SLC2A10):c.774C>T (p.Phe258=)	Arterial tortuosity syndrome [RCV005203381]	likely benign	20	46725810	46725810	Human	1	name
597893311	CV3857065	single nucleotide variant	NM_030777.4(SLC2A10):c.597C>A (p.Ile199=)	Arterial tortuosity syndrome [RCV005200928]	likely benign	20	46725633	46725633	Human	1	name
598169874	CV3914599	single nucleotide variant	NM_030777.4(SLC2A10):c.966C>A (p.Pro322=)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284399]	likely benign	20	46726002	46726002	Human	1	name
598237028	CV3914601	single nucleotide variant	NM_030777.4(SLC2A10):c.898T>C (p.Leu300=)	Familial thoracic aortic aneurysm and aortic dissection [RCV005275572]	likely benign	20	46725934	46725934	Human	1	name
616934376	CV4012375	single nucleotide variant	NM_030777.4(SLC2A10):c.531G>A (p.Leu177=)	not specified [RCV005409411]	likely benign	20	46725567	46725567	Human		name
12884148	CV403642	single nucleotide variant	NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys)	Arterial tortuosity syndrome [RCV000462934]	uncertain significance	20	46725101	46725101	Human	1	name
13529048	CV507366	single nucleotide variant	NM_030777.4(SLC2A10):c.504C>T (p.Phe168=)	Arterial tortuosity syndrome [RCV002531544]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315915]\|SLC2A10-related disorder [RCV003892142]\|not specified [RCV000601295]	likely benign	20	46725540	46725540	Human	2	name , trait , alternate_id
13539892	CV507368	single nucleotide variant	NM_030777.4(SLC2A10):c.720C>A (p.Leu240=)	Arterial tortuosity syndrome [RCV002063912]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003160092]\|not specified [RCV000613899]	likely benign	20	46725756	46725756	Human	2	name
13532901	CV508200	single nucleotide variant	NM_030777.4(SLC2A10):c.369G>C (p.Val123=)	not specified [RCV000601507]	likely benign	20	46725405	46725405	Human		name
13530008	CV510842	single nucleotide variant	NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)	Arterial tortuosity syndrome [RCV000867844]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315216]\|SLC2A10-related disorder [RCV003917986]	likely benign\|conflicting interpretations of pathogenicity	20	46725468	46725468	Human	2	name , trait , alternate_id
14743747	CV656635	single nucleotide variant	NM_030777.4(SLC2A10):c.306C>T (p.Val102=)	Arterial tortuosity syndrome [RCV001395254]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004029236]\|not provided [RCV000842275]\|not specified [RCV003987719]	likely benign	20	46725342	46725342	Human	2	name
15124784	CV684884	single nucleotide variant	NM_030777.4(SLC2A10):c.924C>T (p.Ala308=)	Arterial tortuosity syndrome [RCV000862476]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002372400]\|not provided [RCV001815485]\|not specified [RCV005418370]	likely benign	20	46725960	46725960	Human	2	name
15150271	CV689203	single nucleotide variant	NM_030777.4(SLC2A10):c.858C>T (p.Thr286=)	Arterial tortuosity syndrome [RCV000867015]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004027688]	likely benign	20	46725894	46725894	Human	2	name
15118199	CV694556	single nucleotide variant	NM_030777.4(SLC2A10):c.666C>T (p.Phe222=)	Arterial tortuosity syndrome [RCV002539974]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003307642]	likely benign	20	46725702	46725702	Human	2	name
15102091	CV728700	single nucleotide variant	NM_030777.4(SLC2A10):c.915C>T (p.Ala305=)	Arterial tortuosity syndrome [RCV002539399]\|not specified [RCV003323757]	likely benign	20	46725951	46725951	Human	1	name
15151913	CV742444	single nucleotide variant	NM_030777.4(SLC2A10):c.363C>T (p.Ile121=)	not provided [RCV000901457]	likely benign	20	46725399	46725399	Human		name
15119972	CV757578	single nucleotide variant	NM_030777.4(SLC2A10):c.519A>G (p.Ala173=)	not provided [RCV000918234]	likely benign	20	46725555	46725555	Human		name
15136046	CV786398	single nucleotide variant	NM_030777.4(SLC2A10):c.663C>A (p.Leu221=)	not provided [RCV000982039]	likely benign	20	46725699	46725699	Human		name
34895663	CV917310	single nucleotide variant	NM_030777.4(SLC2A10):c.918C>T (p.Leu306=)	not provided [RCV001724265]\|not specified [RCV001192795]	likely benign	20	46725954	46725954	Human		name
40903318	CV975871	single nucleotide variant	NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)	Arterial tortuosity syndrome [RCV001269301]	uncertain significance	20	46725103	46725103	Human	1	name
126737907	CV1001166	single nucleotide variant	NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro)	Familial aortopathy [RCV004699296]\|not provided [RCV001311990]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	46725290	46725290	Human	1	name
126737909	CV1001167	single nucleotide variant	NM_030777.4(SLC2A10):c.1206T>A (p.Ala402=)	not provided [RCV001311991]	likely benign	20	46726242	46726242	Human		name
126915377	CV1051731	single nucleotide variant	NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr)	Arterial tortuosity syndrome [RCV001370879]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004037484]	uncertain significance	20	46725242	46725242	Human	2	name
127230906	CV1085390	single nucleotide variant	NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=)	Arterial tortuosity syndrome [RCV001412793]	likely benign	20	46726221	46726221	Human	1	name
127260036	CV1085391	single nucleotide variant	NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=)	Arterial tortuosity syndrome [RCV001402104]	likely benign	20	46733774	46733774	Human	1	name
150410208	CV1192244	single nucleotide variant	NM_030777.4(SLC2A10):c.1518A>G (p.Ala506=)	Arterial tortuosity syndrome [RCV002072169]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002388601]\|not provided [RCV001565930]	likely benign	20	46729459	46729459	Human	2	name
150552287	CV1301235	single nucleotide variant	NM_030777.4(SLC2A10):c.260C>T (p.Ala87Val)	not provided [RCV001767645]	uncertain significance	20	46725296	46725296	Human		name
151800706	CV1365812	single nucleotide variant	NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg)	Arterial tortuosity syndrome [RCV001917688]	uncertain significance	20	46725260	46725260	Human	1	name
8692913	CV142879	single nucleotide variant	NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)	Arterial tortuosity syndrome [RCV000227382]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171032]\|not provided [RCV000756646]\|not specified [RCV000128126]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46729453	46729453	Human	2	name
8692920	CV142886	single nucleotide variant	NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=)	Arterial tortuosity syndrome [RCV000456483]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000769677]\|not provided [RCV004703414]\|not specified [RCV000128133]	benign\|likely benign	20	46733825	46733825	Human	2	name
151855531	CV1473851	single nucleotide variant	NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly)	Arterial tortuosity syndrome [RCV001904642]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004039713]	uncertain significance	20	46725173	46725173	Human	2	name
151848498	CV1502759	deletion	NM_030777.4(SLC2A10):c.483del (p.Trp162fs)	Arterial tortuosity syndrome [RCV001882285]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003150466]	pathogenic\|likely pathogenic	20	46725515	46725515	Human	2	name
151728784	CV1515165	single nucleotide variant	NM_030777.4(SLC2A10):c.259G>A (p.Ala87Thr)	Arterial tortuosity syndrome [RCV002040982]	uncertain significance	20	46725295	46725295	Human	1	name
152113664	CV1559079	single nucleotide variant	NM_030777.4(SLC2A10):c.1437C>T (p.Phe479=)	Arterial tortuosity syndrome [RCV002174646]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002391165]	likely benign	20	46729378	46729378	Human	2	name
152129220	CV1583864	single nucleotide variant	NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=)	Arterial tortuosity syndrome [RCV002199098]	likely benign	20	46726901	46726901	Human	1	name
152033623	CV1621312	single nucleotide variant	NM_030777.4(SLC2A10):c.1239G>A (p.Leu413=)	Arterial tortuosity syndrome [RCV002205209]	likely benign	20	46726275	46726275	Human	1	name
152075488	CV1629425	single nucleotide variant	NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=)	Arterial tortuosity syndrome [RCV002130159]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005281137]	likely benign	20	46726880	46726880	Human	2	name
152069073	CV1640110	single nucleotide variant	NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=)	Arterial tortuosity syndrome [RCV002147829]	likely benign	20	46726170	46726170	Human	1	name
152173843	CV1659942	single nucleotide variant	NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=)	Arterial tortuosity syndrome [RCV002162942]	likely benign	20	46733819	46733819	Human	1	name
155714034	CV1830112	single nucleotide variant	NM_030777.4(SLC2A10):c.1482T>C (p.Tyr494=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002397180]	likely benign	20	46729423	46729423	Human	1	name
155738402	CV1832036	single nucleotide variant	NM_030777.4(SLC2A10):c.181G>A (p.Ala61Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002410334]	uncertain significance	20	46725217	46725217	Human	1	name
155708807	CV1833650	single nucleotide variant	NM_030777.4(SLC2A10):c.1551C>T (p.Phe517=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002403385]	likely benign	20	46733759	46733759	Human	1	name
155709109	CV1833708	single nucleotide variant	NM_030777.4(SLC2A10):c.1554C>T (p.Thr518=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002403425]	likely benign	20	46733762	46733762	Human	1	name
155723660	CV1842112	single nucleotide variant	NM_030777.4(SLC2A10):c.251T>C (p.Val84Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV002433042]	uncertain significance	20	46725287	46725287	Human	1	name
155723680	CV1842114	single nucleotide variant	NM_030777.4(SLC2A10):c.251T>G (p.Val84Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV002433044]	uncertain significance	20	46725287	46725287	Human	1	name
155674692	CV1843146	single nucleotide variant	NM_030777.4(SLC2A10):c.194G>T (p.Gly65Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV002421510]	uncertain significance	20	46725230	46725230	Human	1	name
156407393	CV1871806	single nucleotide variant	NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=)	Arterial tortuosity syndrome [RCV003070848]	likely benign	20	46733819	46733819	Human	1	name
156372296	CV1901539	single nucleotide variant	NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=)	Arterial tortuosity syndrome [RCV002582518]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004068788]	likely benign	20	46733768	46733768	Human	2	name
10052235	CV194517	single nucleotide variant	NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)	Arterial tortuosity syndrome [RCV001087931]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310744]\|not provided [RCV000724461]\|not specified [RCV000178369]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46729405	46729405	Human	2	name
8558163	CV19625	deletion	NM_030777.4(SLC2A10):c.961del (p.Val321fs)	Arterial tortuosity syndrome [RCV000004848]	pathogenic	20	46725997	46725997	Human	1	name
8596493	CV19627	single nucleotide variant	NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	Arterial tortuosity syndrome [RCV000004850]\|SLC2A10-related disorder [RCV003914808]\|not provided [RCV000498947]	pathogenic\|likely pathogenic	20	46725279	46725279	Human	1	name , trait , alternate_id
156411493	CV1973434	single nucleotide variant	NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val)	Arterial tortuosity syndrome [RCV002608268]	uncertain significance	20	46725314	46725314	Human	1	name
156353213	CV2011764	single nucleotide variant	NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val)	Arterial tortuosity syndrome [RCV002720340]	uncertain significance	20	46725332	46725332	Human	1	name
10410796	CV210348	single nucleotide variant	NM_030777.4(SLC2A10):c.129C>G (p.Ser43Arg)	not provided [RCV000198918]	uncertain significance	20	46725165	46725165	Human		name
10410859	CV210349	single nucleotide variant	NM_030777.4(SLC2A10):c.145T>A (p.Phe49Ile)	not provided [RCV000199050]	likely benign\|uncertain significance	20	46725181	46725181	Human		name
10411518	CV210387	single nucleotide variant	NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=)	Arterial tortuosity syndrome [RCV000475676]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002399732]\|not specified [RCV000200433]	benign\|likely benign	20	46733801	46733801	Human	2	name
155989261	CV2133486	single nucleotide variant	NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=)	Arterial tortuosity syndrome [RCV002996486]	likely benign	20	46726239	46726239	Human	1	name
243055848	CV2416580	single nucleotide variant	NM_030777.4(SLC2A10):c.152T>C (p.Val51Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV003150665]\|not provided [RCV004775355]	uncertain significance	20	46725188	46725188	Human	1	name
329378803	CV2432758	single nucleotide variant	NM_030777.4(SLC2A10):c.1362C>T (p.Phe454=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003186939]	likely benign	20	46726937	46726937	Human	1	name
329378804	CV2432759	single nucleotide variant	NM_030777.4(SLC2A10):c.1260C>G (p.Val420=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003186940]	likely benign	20	46726296	46726296	Human	1	name
11543442	CV257364	single nucleotide variant	NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=)	Arterial tortuosity syndrome [RCV001461613]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002379088]\|not provided [RCV000864839]\|not specified [RCV000242462]	likely benign	20	46726946	46726946	Human	2	name
11548556	CV259069	single nucleotide variant	NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser)	Arterial tortuosity syndrome [RCV000458304]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310972]	uncertain significance	20	46725155	46725155	Human	2	name
11549405	CV259075	single nucleotide variant	NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=)	Arterial tortuosity syndrome [RCV000468449]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310829]\|not provided [RCV003326391]\|not specified [RCV000431013]	benign\|likely benign	20	46726248	46726248	Human	2	name
11543942	CV259081	single nucleotide variant	NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=)	Arterial tortuosity syndrome [RCV001088214]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310884]\|not specified [RCV000433364]	benign\|likely benign	20	46733756	46733756	Human	2	name
11548932	CV259087	single nucleotide variant	NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=)	Arterial tortuosity syndrome [RCV001505346]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310936]	likely benign	20	46726269	46726269	Human	2	name
329955082	CV2671023	single nucleotide variant	NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)	Arterial tortuosity syndrome [RCV003502716]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003294664]\|not specified [RCV003236292]	likely benign	20	46729454	46729454	Human	2	name
402467495	CV2866586	single nucleotide variant	NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=)	Arterial tortuosity syndrome [RCV003503561]	likely benign	20	46726913	46726913	Human	1	name
405077879	CV2965089	single nucleotide variant	NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=)	Arterial tortuosity syndrome [RCV003612643]	likely benign	20	46726284	46726284	Human	1	name
405076625	CV2973775	single nucleotide variant	NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=)	Arterial tortuosity syndrome [RCV003612543]	likely benign	20	46729381	46729381	Human	1	name
405076320	CV3079774	single nucleotide variant	NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=)	Arterial tortuosity syndrome [RCV003612419]	likely benign	20	46726059	46726059	Human	1	name
405118161	CV3131004	single nucleotide variant	NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=)	Arterial tortuosity syndrome [RCV003837060]	likely benign	20	46726248	46726248	Human	1	name
402514798	CV3178839	single nucleotide variant	NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=)	Arterial tortuosity syndrome [RCV003879272]	likely benign	20	46726976	46726976	Human	1	name
405683323	CV3387831	single nucleotide variant	NM_030777.4(SLC2A10):c.1320T>C (p.Pro440=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517806]	likely benign	20	46726895	46726895	Human	1	name
405683329	CV3387833	single nucleotide variant	NM_030777.4(SLC2A10):c.1491T>C (p.Val497=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517808]	likely benign	20	46729432	46729432	Human	1	name
405683342	CV3387837	single nucleotide variant	NM_030777.4(SLC2A10):c.262G>A (p.Gly88Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517812]	uncertain significance	20	46725298	46725298	Human	1	name
405683345	CV3387838	single nucleotide variant	NM_030777.4(SLC2A10):c.272C>T (p.Thr91Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517813]	uncertain significance	20	46725308	46725308	Human	1	name
11628238	CV345372	single nucleotide variant	NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)	Arterial tortuosity syndrome [RCV000297350]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002379233]\|not specified [RCV000437797]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726880	46726880	Human	2	name
407509741	CV3474199	single nucleotide variant	NM_030777.4(SLC2A10):c.1455C>G (p.Thr485=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004672473]	likely benign	20	46729396	46729396	Human	1	name
11653804	CV350053	single nucleotide variant	NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)	Arterial tortuosity syndrome [RCV000313426]	conflicting interpretations of pathogenicity\|uncertain significance	20	46733804	46733804	Human	1	name
597629264	CV3602829	single nucleotide variant	NM_030777.4(SLC2A10):c.115G>C (p.Asp39His)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821746]	uncertain significance	20	46725151	46725151	Human	1	name
597948874	CV3759220	duplication	NM_030777.4(SLC2A10):c.483dup (p.Trp162fs)	Arterial tortuosity syndrome [RCV005079017]	pathogenic	20	46725514	46725515	Human	1	name
597918117	CV3767972	single nucleotide variant	NM_030777.4(SLC2A10):c.163C>A (p.Leu55Ile)	Arterial tortuosity syndrome [RCV005114773]	uncertain significance	20	46725199	46725199	Human	1	name
597885816	CV3777313	single nucleotide variant	NM_030777.4(SLC2A10):c.1221G>T (p.Leu407=)	Arterial tortuosity syndrome [RCV005124912]	likely benign	20	46726257	46726257	Human	1	name
12842158	CV378049	single nucleotide variant	NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=)	Arterial tortuosity syndrome [RCV000463626]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313047]\|not provided [RCV003437170]\|not specified [RCV000433911]	benign\|likely benign	20	46726044	46726044	Human	2	name
12847023	CV378054	single nucleotide variant	NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=)	Arterial tortuosity syndrome [RCV001502738]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002374711]\|not specified [RCV000442758]	likely benign	20	46726305	46726305	Human	2	name
12839364	CV378062	single nucleotide variant	NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=)	Arterial tortuosity syndrome [RCV001483661]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004668971]\|not provided [RCV001698395]	likely benign	20	46729387	46729387	Human	2	name
597918052	CV3842192	single nucleotide variant	NM_030777.4(SLC2A10):c.1419C>T (p.Ile473=)	Arterial tortuosity syndrome [RCV005183867]	likely benign	20	46729360	46729360	Human	1	name
598169866	CV3914594	single nucleotide variant	NM_030777.4(SLC2A10):c.182C>T (p.Ala61Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284394]	uncertain significance	20	46725218	46725218	Human	1	name
12883949	CV404191	single nucleotide variant	NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)	Arterial tortuosity syndrome [RCV000462576]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003168905]\|not provided [RCV001721532]\|not specified [RCV004526684]	likely benign\|conflicting interpretations of pathogenicity	20	46733813	46733813	Human	2	name
12906249	CV415684	single nucleotide variant	NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe)	Arterial tortuosity syndrome [RCV002523409]\|not provided [RCV000488998]	uncertain significance	20	46725199	46725199	Human	1	name
13484198	CV446254	single nucleotide variant	NM_030777.4(SLC2A10):c.212G>T (p.Cys71Phe)	Familial thoracic aortic aneurysm and aortic dissection [RCV004023594]\|not provided [RCV000522269]	uncertain significance	20	46725248	46725248	Human	1	name
13480349	CV446255	single nucleotide variant	NM_030777.4(SLC2A10):c.238G>A (p.Gly80Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV002431483]\|SLC2A10-related disorder [RCV003403236]\|not provided [RCV000521208]	uncertain significance	20	46725274	46725274	Human	2	name , trait , alternate_id
13512450	CV485794	single nucleotide variant	NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)	Arterial tortuosity syndrome [RCV002530826]\|Ehlers-Danlos syndrome, classic type [RCV000583694]	uncertain significance	20	46725200	46725200	Human	2	name
13510650	CV485795	single nucleotide variant	NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp)	Arterial tortuosity syndrome [RCV000581358]	uncertain significance	20	46725233	46725233	Human	1	name
13526482	CV507175	single nucleotide variant	NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=)	Arterial tortuosity syndrome [RCV001419291]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003380629]\|not specified [RCV000604222]	likely benign	20	46726874	46726874	Human	2	name
13529637	CV507372	single nucleotide variant	NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=)	Arterial tortuosity syndrome [RCV003611524]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004024908]\|not provided [RCV005256647]\|not specified [RCV000605814]	likely benign	20	46726146	46726146	Human	2	name
13529476	CV507788	single nucleotide variant	NM_030777.4(SLC2A10):c.1461C>T (p.Val487=)	not specified [RCV000600323]	likely benign	20	46729402	46729402	Human		name
13535119	CV510846	single nucleotide variant	NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=)	Arterial tortuosity syndrome [RCV001407823]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315218]	likely benign	20	46729396	46729396	Human	2	name
13615548	CV533604	single nucleotide variant	NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=)	Arterial tortuosity syndrome [RCV000644033]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003162907]\|not provided [RCV004704158]\|not specified [RCV001192940]	likely benign	20	46726976	46726976	Human	2	name
14689224	CV615171	single nucleotide variant	NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln)	Arterial tortuosity syndrome [RCV001855992]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770701]\|not provided [RCV001592952]	uncertain significance	20	46725178	46725178	Human	2	name
14728888	CV648745	single nucleotide variant	NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)	Arterial tortuosity syndrome [RCV000816732]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002352435]\|not specified [RCV003323732]	uncertain significance	20	46725151	46725151	Human	2	name
14720652	CV648746	single nucleotide variant	NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu)	Arterial tortuosity syndrome [RCV000813114]	uncertain significance	20	46725183	46725183	Human	1	name
14741640	CV656636	single nucleotide variant	NM_030777.4(SLC2A10):c.1191G>A (p.Gly397=)	not provided [RCV000840877]	likely benign	20	46726227	46726227	Human		name
15122506	CV684885	single nucleotide variant	NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=)	Arterial tortuosity syndrome [RCV002538907]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004029306]	likely benign	20	46726255	46726255	Human	2	name
15122210	CV684886	single nucleotide variant	NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=)	Arterial tortuosity syndrome [RCV001433094]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004029304]	likely benign	20	46726952	46726952	Human	2	name
15133691	CV684887	single nucleotide variant	NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=)	Arterial tortuosity syndrome [RCV000864005]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002399877]\|not specified [RCV004689906]	likely benign	20	46729477	46729477	Human	2	name
15135974	CV689204	single nucleotide variant	NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=)	Arterial tortuosity syndrome [RCV002536261]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003169108]	likely benign	20	46726919	46726919	Human	2	name
15197445	CV728701	single nucleotide variant	NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=)	Arterial tortuosity syndrome [RCV000890059]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002346055]	likely benign	20	46726239	46726239	Human	2	name
15191750	CV742445	single nucleotide variant	NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=)	Arterial tortuosity syndrome [RCV002065795]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003307679]\|not provided [RCV000910337]	likely benign	20	46729438	46729438	Human	2	name
15187434	CV773145	single nucleotide variant	NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)	Arterial tortuosity syndrome [RCV001138862]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726068	46726068	Human	1	name
26917504	CV848458	single nucleotide variant	NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu)	Arterial tortuosity syndrome [RCV001042682]	uncertain significance	20	46725140	46725140	Human	1	name
26896805	CV848459	single nucleotide variant	NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys)	Arterial tortuosity syndrome [RCV001048260]	uncertain significance	20	46725229	46725229	Human	1	name
26919409	CV848460	single nucleotide variant	NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly)	Arterial tortuosity syndrome [RCV001058944]	uncertain significance	20	46725245	46725245	Human	1	name
28907623	CV860644	deletion	NM_030777.4(SLC2A10):c.484del (p.Trp162fs)	Arterial tortuosity syndrome [RCV005032554]	pathogenic	20	46725520	46725520	Human	1	name
28889586	CV886189	single nucleotide variant	NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val)	Arterial tortuosity syndrome [RCV001138753]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004671227]	uncertain significance	20	46725209	46725209	Human	2	name
38482223	CV929214	single nucleotide variant	NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)	Arterial tortuosity syndrome [RCV001218368]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003380894]\|not provided [RCV003148948]	uncertain significance	20	46725206	46725206	Human	2	name
38492864	CV929216	single nucleotide variant	NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=)	Arterial tortuosity syndrome [RCV001223850]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004032488]	likely benign\|uncertain significance	20	46729384	46729384	Human	2	name
126751812	CV999044	single nucleotide variant	NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp)	Arterial tortuosity syndrome [RCV001297600]	uncertain significance	20	46725254	46725254	Human	1	name
126771810	CV1014165	single nucleotide variant	NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala)	Arterial tortuosity syndrome [RCV001323372]	uncertain significance	20	46725404	46725404	Human	1	name
126772618	CV1034739	single nucleotide variant	NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val)	Arterial tortuosity syndrome [RCV001345719]	uncertain significance	20	46725596	46725596	Human	1	name
126744786	CV1034740	single nucleotide variant	NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys)	Arterial tortuosity syndrome [RCV001351321]	uncertain significance	20	46725913	46725913	Human	1	name
126909242	CV1051732	single nucleotide variant	NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys)	Arterial tortuosity syndrome [RCV001368321]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377545]	uncertain significance	20	46725922	46725922	Human	2	name
126918168	CV1051733	deletion	NM_030777.4(SLC2A10):c.1573del (p.Gln525fs)	Arterial tortuosity syndrome [RCV001372501]	uncertain significance	20	46733781	46733781	Human	1	name
150529182	CV1288731	single nucleotide variant	NM_030777.4(SLC2A10):c.647A>G (p.Tyr216Cys)	not provided [RCV001727199]	uncertain significance	20	46725683	46725683	Human		name
150555071	CV1295875	single nucleotide variant	NM_030777.4(SLC2A10):c.464A>C (p.Tyr155Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002334665]\|not provided [RCV001772384]	uncertain significance	20	46725500	46725500	Human	1	name
150546764	CV1313892	single nucleotide variant	NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)	Arterial tortuosity syndrome [RCV001784984]	pathogenic	20	46725521	46725521	Human	1	name
151232899	CV1320011	single nucleotide variant	NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val)	Arterial tortuosity syndrome [RCV002482323]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001799367]	uncertain significance	20	46725959	46725959	Human	2	name
151662706	CV1333427	single nucleotide variant	NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln)	Arterial tortuosity syndrome [RCV002542811]\|Familial aortopathy [RCV005429359]\|not provided [RCV001837619]	pathogenic\|likely pathogenic\|uncertain significance	20	46725431	46725431	Human	2	name
151838995	CV1344945	single nucleotide variant	NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)	Arterial tortuosity syndrome [RCV002015102]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002361363]\|not provided [RCV005242144]	likely benign\|uncertain significance	20	46725712	46725712	Human	2	name
151823682	CV1351494	single nucleotide variant	NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys)	Arterial tortuosity syndrome [RCV001993032]	likely pathogenic\|uncertain significance	20	46725763	46725763	Human	1	name
151724137	CV1356933	single nucleotide variant	NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln)	Arterial tortuosity syndrome [RCV001966370]	uncertain significance	20	46725425	46725425	Human	1	name
151747699	CV1362376	single nucleotide variant	NM_030777.4(SLC2A10):c.520C>G (p.Pro174Ala)	Arterial tortuosity syndrome [RCV001968833]	uncertain significance	20	46725556	46725556	Human	1	name
151772692	CV1402713	single nucleotide variant	NM_030777.4(SLC2A10):c.991G>T (p.Ala331Ser)	Arterial tortuosity syndrome [RCV001896496]	uncertain significance	20	46726027	46726027	Human	1	name
151771246	CV1404394	single nucleotide variant	NM_030777.4(SLC2A10):c.613G>A (p.Glu205Lys)	Arterial tortuosity syndrome [RCV002045265]	uncertain significance	20	46725649	46725649	Human	1	name
151821977	CV1415596	single nucleotide variant	NM_030777.4(SLC2A10):c.976G>C (p.Gly326Arg)	Arterial tortuosity syndrome [RCV001900971]	uncertain significance	20	46726012	46726012	Human	1	name
151718946	CV1419854	single nucleotide variant	NM_030777.4(SLC2A10):c.476G>C (p.Gly159Ala)	Arterial tortuosity syndrome [RCV001965663]	uncertain significance	20	46725512	46725512	Human	1	name
151762570	CV1425518	single nucleotide variant	NM_030777.4(SLC2A10):c.643C>T (p.Arg215Trp)	Arterial tortuosity syndrome [RCV001928695]	uncertain significance	20	46725679	46725679	Human	1	name
8692907	CV142873	single nucleotide variant	NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser)	Arterial tortuosity syndrome [RCV000234189]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770702]\|not specified [RCV000128120]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725352	46725352	Human	2	name
8692909	CV142875	single nucleotide variant	NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)	Arterial tortuosity syndrome [RCV000355944]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310711]\|not provided [RCV004703413]\|not specified [RCV000175951]	benign\|likely benign	20	46725652	46725652	Human	2	name
151740105	CV1490511	single nucleotide variant	NM_030777.4(SLC2A10):c.589G>T (p.Asp197Tyr)	Arterial tortuosity syndrome [RCV001985158]	uncertain significance	20	46725625	46725625	Human	1	name
152156898	CV1668812	single nucleotide variant	NM_030777.4(SLC2A10):c.598C>T (p.Pro200Ser)	not specified [RCV002223038]	uncertain significance	20	46725634	46725634	Human		name
153346258	CV1691620	single nucleotide variant	NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn)	Arterial tortuosity syndrome [RCV002273103]	uncertain significance	20	46725887	46725887	Human	1	name
10409941	CV170939	single nucleotide variant	NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	Arterial tortuosity syndrome [RCV000202447]\|Familial aortopathy [RCV004526620]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310718]\|not provided [RCV000997782]\|not specified [RCV000202814]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	20	46725349	46725349	Human	3	name
10450002	CV170940	single nucleotide variant	NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)	Arterial tortuosity syndrome [RCV000202463]	pathogenic\|likely pathogenic\|not provided	20	46725453	46725453	Human	1	name
10450017	CV170941	single nucleotide variant	NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val)	Arterial tortuosity syndrome [RCV000202496]	pathogenic\|not provided	20	46725461	46725461	Human	1	name
10450025	CV170942	single nucleotide variant	NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)	Arterial tortuosity syndrome [RCV000202510]\|Cardiovascular phenotype [RCV000248625]\|Thoracic aortic aneurysm or dissection [RCV005416029]	pathogenic	20	46725721	46725721	Human	2	name
10409187	CV170943	single nucleotide variant	NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)	Arterial tortuosity syndrome [RCV000202453]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004019778]\|not provided [RCV000195605]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725727	46725727	Human	2	name
10054575	CV170944	single nucleotide variant	NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)	Arterial tortuosity syndrome [RCV000185549]\|Cardiovascular phenotype [RCV000251075]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725728	46725728	Human	1	name
10450036	CV170946	single nucleotide variant	NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu)	Arterial tortuosity syndrome [RCV000202540]	pathogenic\|not provided	20	46725773	46725773	Human	1	name
10450000	CV170947	single nucleotide variant	NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)	Arterial tortuosity syndrome [RCV000202459]	pathogenic\|not provided	20	46725792	46725792	Human	1	name
10450039	CV170952	deletion	NM_030777.4(SLC2A10):c.1411+480_1547+299del	Arterial tortuosity syndrome [RCV000202550]	pathogenic\|not provided	20	46727444	46729765	Human	1	name
155731410	CV1780974	single nucleotide variant	NM_030777.4(SLC2A10):c.815C>T (p.Ala272Val)	not provided [RCV002308762]	uncertain significance	20	46725851	46725851	Human		name
155711274	CV1795196	single nucleotide variant	NM_030777.4(SLC2A10):c.325G>T (p.Gly109Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV002324958]	uncertain significance	20	46725361	46725361	Human	1	name
155669478	CV1800083	single nucleotide variant	NM_030777.4(SLC2A10):c.547C>T (p.Leu183Phe)	Familial thoracic aortic aneurysm and aortic dissection [RCV002349837]	uncertain significance	20	46725583	46725583	Human	1	name
155697637	CV1800993	single nucleotide variant	NM_030777.4(SLC2A10):c.604C>G (p.Gln202Glu)	Familial thoracic aortic aneurysm and aortic dissection [RCV002358251]	uncertain significance	20	46725640	46725640	Human	1	name
155746067	CV1803401	single nucleotide variant	NM_030777.4(SLC2A10):c.566C>T (p.Thr189Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV002347348]	uncertain significance	20	46725602	46725602	Human	1	name
155722559	CV1804444	single nucleotide variant	NM_030777.4(SLC2A10):c.649T>C (p.Ser217Pro)	Familial thoracic aortic aneurysm and aortic dissection [RCV002364124]	uncertain significance	20	46725685	46725685	Human	1	name
155742457	CV1809989	single nucleotide variant	NM_030777.4(SLC2A10):c.526G>C (p.Val176Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV002344392]	likely benign	20	46725562	46725562	Human	1	name
155715419	CV1812214	single nucleotide variant	NM_030777.4(SLC2A10):c.689G>A (p.Gly230Asp)	Familial thoracic aortic aneurysm and aortic dissection [RCV002362307]	uncertain significance	20	46725725	46725725	Human	1	name
155716406	CV1812592	single nucleotide variant	NM_030777.4(SLC2A10):c.697A>G (p.Thr233Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV002362545]	uncertain significance	20	46725733	46725733	Human	1	name
155682334	CV1814843	single nucleotide variant	NM_030777.4(SLC2A10):c.922G>A (p.Ala308Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002371319]	uncertain significance	20	46725958	46725958	Human	1	name
155706796	CV1815379	single nucleotide variant	NM_030777.4(SLC2A10):c.686G>A (p.Arg229Gln)	Familial thoracic aortic aneurysm and aortic dissection [RCV002378007]	uncertain significance	20	46725722	46725722	Human	1	name
155741896	CV1816498	single nucleotide variant	NM_030777.4(SLC2A10):c.784G>A (p.Gly262Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002412196]	uncertain significance	20	46725820	46725820	Human	1	name
155699208	CV1824571	single nucleotide variant	NM_030777.4(SLC2A10):c.890G>A (p.Arg297Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV002376086]	uncertain significance	20	46725926	46725926	Human	1	name
155699215	CV1824574	single nucleotide variant	NM_030777.4(SLC2A10):c.890G>C (p.Arg297Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002376089]	uncertain significance	20	46725926	46725926	Human	1	name
156361328	CV1898986	single nucleotide variant	NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys)	Arterial tortuosity syndrome [RCV003091730]	uncertain significance	20	46725775	46725775	Human	1	name
156163625	CV1907595	single nucleotide variant	NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr)	Arterial tortuosity syndrome [RCV003082994]	uncertain significance	20	46725367	46725367	Human	1	name
10050853	CV192544	single nucleotide variant	NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)	Arterial tortuosity syndrome [RCV000319871]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770704]\|not provided [RCV000724210]\|not specified [RCV000199609]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725551	46725551	Human	3	name
155962502	CV1931667	single nucleotide variant	NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg)	Arterial tortuosity syndrome [RCV002616802]\|not provided [RCV005250281]	uncertain significance	20	46725668	46725668	Human	1	name
156161863	CV1933250	single nucleotide variant	NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly)	Arterial tortuosity syndrome [RCV002624400]	uncertain significance	20	46725941	46725941	Human	1	name
8596492	CV19624	single nucleotide variant	NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)	Arterial tortuosity syndrome [RCV000004847]\|not provided [RCV001579411]	pathogenic	20	46725546	46725546	Human	1	name
8558164	CV19626	deletion	NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	Arterial tortuosity syndrome [RCV000004849]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310623]\|SLC2A10-related disorder [RCV003390642]\|not provided [RCV000197366]	pathogenic\|likely pathogenic	20	46726908	46726908	Human	2	name , trait , alternate_id
8596495	CV19629	single nucleotide variant	NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	Arterial tortuosity syndrome [RCV000004852]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000616750]\|not provided [RCV001558568]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725430	46725430	Human	2	name
156105326	CV2075863	single nucleotide variant	NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr)	Arterial tortuosity syndrome [RCV002870688]	uncertain significance	20	46726015	46726015	Human	1	name
10411026	CV210350	single nucleotide variant	NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)	Arterial tortuosity syndrome [RCV001853162]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002321792]\|not provided [RCV000585246]	pathogenic\|likely pathogenic\|uncertain significance	20	46725350	46725350	Human	2	name
10409280	CV210351	single nucleotide variant	NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)	Arterial tortuosity syndrome [RCV000687656]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002321791]\|not provided [RCV000756648]\|not specified [RCV003488452]	pathogenic\|likely benign\|uncertain significance	20	46725352	46725352	Human	2	name
10410357	CV210352	single nucleotide variant	NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)	Arterial tortuosity syndrome [RCV000354340]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171026]\|not provided [RCV001705118]\|not specified [RCV003987443]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725353	46725353	Human	2	name
10409149	CV210353	single nucleotide variant	NM_030777.4(SLC2A10):c.371C>T (p.Ser124Leu)	not provided [RCV000195531]\|not specified [RCV003488453]	uncertain significance	20	46725407	46725407	Human		name
10411558	CV210354	single nucleotide variant	NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys)	Arterial tortuosity syndrome [RCV002515368]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002327037]\|not provided [RCV000200509]	likely pathogenic\|uncertain significance	20	46725452	46725452	Human	2	name
10409977	CV210355	single nucleotide variant	NM_030777.4(SLC2A10):c.430A>T (p.Thr144Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002327038]\|not provided [RCV000197243]	uncertain significance	20	46725466	46725466	Human	1	name
10409894	CV210356	single nucleotide variant	NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro)	Arterial tortuosity syndrome [RCV001853163]\|not provided [RCV000197067]	uncertain significance	20	46725479	46725479	Human	1	name
10411060	CV210357	single nucleotide variant	NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)	Arterial tortuosity syndrome [RCV002054312]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002336533]\|not provided [RCV000199476]\|not specified [RCV001192939]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725540	46725540	Human	2	name
10409232	CV210358	single nucleotide variant	NM_030777.4(SLC2A10):c.587A>T (p.Lys196Met)	not specified [RCV000195701]	likely benign	20	46725623	46725623	Human		name
10410289	CV210359	single nucleotide variant	NM_030777.4(SLC2A10):c.635G>C (p.Gly212Ala)	not specified [RCV000197879]	likely benign	20	46725671	46725671	Human		name
10411363	CV210360	single nucleotide variant	NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln)	Arterial tortuosity syndrome [RCV001857723]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002363010]\|not specified [RCV000200110]	likely pathogenic\|likely benign\|uncertain significance	20	46725680	46725680	Human	2	name
10410958	CV210361	single nucleotide variant	NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys)	Arterial tortuosity syndrome [RCV000389505]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485556]\|not provided [RCV000199255]	likely pathogenic\|uncertain significance	20	46725709	46725709	Human	2	name
10411298	CV210364	single nucleotide variant	NM_030777.4(SLC2A10):c.794G>C (p.Gly265Ala)	not specified [RCV000199982]	likely benign	20	46725830	46725830	Human		name
10410263	CV210365	single nucleotide variant	NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)	Arterial tortuosity syndrome [RCV000685755]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315623]\|not provided [RCV000197827]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725884	46725884	Human	2	name
10409391	CV210366	single nucleotide variant	NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr)	Arterial tortuosity syndrome [RCV001853164]\|not provided [RCV000196028]	likely pathogenic\|uncertain significance	20	46725895	46725895	Human	1	name
10410158	CV210367	single nucleotide variant	NM_030777.4(SLC2A10):c.878G>A (p.Arg293His)	Arterial tortuosity syndrome [RCV000644030]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002372175]\|not provided [RCV000197611]	uncertain significance	20	46725914	46725914	Human	2	name
10410903	CV210368	single nucleotide variant	NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)	Arterial tortuosity syndrome [RCV001857724]\|Bicuspid aortic valve [RCV000582570]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002372176]\|not provided [RCV000199139]	uncertain significance	20	46725965	46725965	Human	4	name
10409442	CV210369	single nucleotide variant	NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)	Arterial tortuosity syndrome [RCV000340579]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171030]\|not provided [RCV000196120]\|not specified [RCV005237695]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725967	46725967	Human	2	name
10410994	CV210370	single nucleotide variant	NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala)	Arterial tortuosity syndrome [RCV001343842]\|not provided [RCV000199334]	uncertain significance	20	46726031	46726031	Human	1	name
156291900	CV2156397	single nucleotide variant	NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro)	Arterial tortuosity syndrome [RCV003010001]	uncertain significance	20	46725406	46725406	Human	1	name
156314698	CV2158444	single nucleotide variant	NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp)	Arterial tortuosity syndrome [RCV003028788]	uncertain significance	20	46726013	46726013	Human	1	name
11040123	CV224567	single nucleotide variant	NM_030777.4(SLC2A10):c.462C>G (p.Asn154Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV001837762]\|not provided [RCV001753628]	uncertain significance	20	46725498	46725498	Human	3	name
156068035	CV2270879	single nucleotide variant	NM_030777.4(SLC2A10):c.506G>C (p.Gly169Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV004131920]	uncertain significance	20	46725542	46725542	Human	1	name
329385214	CV2422967	single nucleotide variant	NM_030777.4(SLC2A10):c.848C>G (p.Ala283Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV003176973]	uncertain significance	20	46725884	46725884	Human	1	name
11349460	CV243583	single nucleotide variant	NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)	Arterial tortuosity syndrome [RCV001002470]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798741]\|not provided [RCV000585432]\|not specified [RCV000338554]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725710	46725710	Human	2	name
329383421	CV2465907	single nucleotide variant	NM_030777.4(SLC2A10):c.340C>T (p.Leu114Phe)	Familial thoracic aortic aneurysm and aortic dissection [RCV003213690]	uncertain significance	20	46725376	46725376	Human	1	name
401859091	CV2524180	single nucleotide variant	NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)	Arterial tortuosity syndrome [RCV003334359]\|Familial aortopathy [RCV004701025]	pathogenic\|likely pathogenic	20	46725935	46725935	Human	2	name
11551739	CV259072	single nucleotide variant	NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile)	Arterial tortuosity syndrome [RCV000459737]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822028]\|not provided [RCV001536754]\|not specified [RCV003317174]	uncertain significance	20	46725817	46725817	Human	2	name
11550988	CV259073	single nucleotide variant	NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)	Arterial tortuosity syndrome [RCV000467385]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310987]\|not provided [RCV001701834]	likely benign\|uncertain significance	20	46725617	46725617	Human	2	name
11552446	CV259077	single nucleotide variant	NM_030777.4(SLC2A10):c.367G>A (p.Val123Met)	Arterial tortuosity syndrome [RCV001217868]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311225]\|not provided [RCV002059051]	uncertain significance	20	46725403	46725403	Human	2	name
11547223	CV259086	single nucleotide variant	NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser)	Arterial tortuosity syndrome [RCV003611506]\|Cardiovascular phenotype [RCV000247481]	likely benign\|uncertain significance	20	46725646	46725646	Human	1	name
401777366	CV2730301	single nucleotide variant	NM_030777.4(SLC2A10):c.526G>A (p.Val176Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV003306360]	uncertain significance	20	46725562	46725562	Human	1	name
401777367	CV2730302	single nucleotide variant	NM_030777.4(SLC2A10):c.624G>C (p.Lys208Asn)	Familial thoracic aortic aneurysm and aortic dissection [RCV003306361]	uncertain significance	20	46725660	46725660	Human	1	name
401784378	CV2730303	single nucleotide variant	NM_030777.4(SLC2A10):c.796G>A (p.Gly266Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV003310531]	uncertain significance	20	46725832	46725832	Human	1	name
401799158	CV2741735	single nucleotide variant	NM_030777.4(SLC2A10):c.952A>G (p.Ser318Gly)	not provided [RCV003323143]	uncertain significance	20	46725988	46725988	Human		name
401858071	CV2750566	single nucleotide variant	NM_030777.4(SLC2A10):c.476G>T (p.Gly159Val)	not provided [RCV003334239]	uncertain significance	20	46725512	46725512	Human		name
401887021	CV2784434	single nucleotide variant	NM_030777.4(SLC2A10):c.883G>A (p.Gly295Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV003387410]	uncertain significance	20	46725919	46725919	Human	1	name
401887022	CV2784435	single nucleotide variant	NM_030777.4(SLC2A10):c.766A>G (p.Thr256Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV003387411]	uncertain significance	20	46725802	46725802	Human	1	name
401936360	CV2803109	single nucleotide variant	NM_030777.4(SLC2A10):c.300G>A (p.Trp100Ter)	SLC2A10-related disorder [RCV003414303]	likely pathogenic	20	46725336	46725336	Human		name , trait , alternate_id
405082274	CV3081574	single nucleotide variant	NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)	Arterial tortuosity syndrome [RCV003613034]	uncertain significance	20	46725392	46725392	Human	1	name
405782956	CV3322089	single nucleotide variant	NM_030777.4(SLC2A10):c.595A>G (p.Ile199Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV004458979]	uncertain significance	20	46725631	46725631	Human	1	name
11663633	CV335635	single nucleotide variant	NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu)	Arterial tortuosity syndrome [RCV000397732]	uncertain significance	20	46726001	46726001	Human	1	name
405683349	CV3387839	single nucleotide variant	NM_030777.4(SLC2A10):c.499A>G (p.Met167Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517814]	uncertain significance	20	46725535	46725535	Human	1	name
405683362	CV3387843	single nucleotide variant	NM_030777.4(SLC2A10):c.946C>G (p.Leu316Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517818]	uncertain significance	20	46725982	46725982	Human	1	name
405683366	CV3387844	single nucleotide variant	NM_030777.4(SLC2A10):c.974C>T (p.Ser325Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517819]	uncertain significance	20	46726010	46726010	Human	1	name
405873292	CV3398447	single nucleotide variant	NM_030777.4(SLC2A10):c.620C>T (p.Pro207Leu)	not provided [RCV004575943]	uncertain significance	20	46725656	46725656	Human		name
407425895	CV3409672	single nucleotide variant	NM_030777.4(SLC2A10):c.395G>C (p.Arg132Pro)	not provided [RCV004585604]	likely pathogenic	20	46725431	46725431	Human		name
11663919	CV345370	single nucleotide variant	NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys)	Arterial tortuosity syndrome [RCV000400575]	uncertain significance	20	46725336	46725336	Human	1	name
407509740	CV3474198	single nucleotide variant	NM_030777.4(SLC2A10):c.892G>A (p.Ala298Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004672472]	uncertain significance	20	46725928	46725928	Human	1	name
407509746	CV3474201	single nucleotide variant	NM_030777.4(SLC2A10):c.344C>A (p.Ser115Tyr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004672475]	uncertain significance	20	46725380	46725380	Human	1	name
407451427	CV3474202	single nucleotide variant	NM_030777.4(SLC2A10):c.352G>A (p.Ala118Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004683663]	uncertain significance	20	46725388	46725388	Human	1	name
11627835	CV350049	single nucleotide variant	NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys)	Aortic aneurysm, familial thoracic 6 [RCV000845461]\|Arterial tortuosity syndrome [RCV000290249]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002374583]\|not provided [RCV000497610]	uncertain significance	20	46725956	46725956	Human	3	name
596921131	CV3534748	single nucleotide variant	NM_030777.4(SLC2A10):c.658G>T (p.Asp220Tyr)	not provided [RCV004784305]	uncertain significance	20	46725694	46725694	Human		name
597629257	CV3602825	single nucleotide variant	NM_030777.4(SLC2A10):c.683T>A (p.Met228Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821743]	uncertain significance	20	46725719	46725719	Human	1	name
597629259	CV3602827	single nucleotide variant	NM_030777.4(SLC2A10):c.467C>G (p.Ala156Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821744]	uncertain significance	20	46725503	46725503	Human	1	name
597629262	CV3602828	single nucleotide variant	NM_030777.4(SLC2A10):c.431C>T (p.Thr144Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821745]	uncertain significance	20	46725467	46725467	Human	1	name
12835319	CV377047	single nucleotide variant	NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)	Arterial tortuosity syndrome [RCV000475316]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002374646]\|not provided [RCV001703590]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725997	46725997	Human	2	name
597923009	CV3839889	single nucleotide variant	NM_030777.4(SLC2A10):c.628G>T (p.Gly210Cys)	Arterial tortuosity syndrome [RCV005184628]	uncertain significance	20	46725664	46725664	Human	1	name
597947452	CV3841875	single nucleotide variant	NM_030777.4(SLC2A10):c.557C>T (p.Pro186Leu)	Arterial tortuosity syndrome [RCV005189309]	uncertain significance	20	46725593	46725593	Human	1	name
597878122	CV3860360	deletion	NM_030777.4(SLC2A10):c.1129del (p.His377fs)	Arterial tortuosity syndrome [RCV005198569]	pathogenic	20	46726162	46726162	Human	1	name
598169868	CV3914595	single nucleotide variant	NM_030777.4(SLC2A10):c.673C>A (p.Arg225Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284395]	uncertain significance	20	46725709	46725709	Human	1	name
598169870	CV3914597	single nucleotide variant	NM_030777.4(SLC2A10):c.511G>A (p.Ala171Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284397]	uncertain significance	20	46725547	46725547	Human	1	name
598169873	CV3914598	single nucleotide variant	NM_030777.4(SLC2A10):c.875A>G (p.Asp292Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284398]	uncertain significance	20	46725911	46725911	Human	1	name
598169881	CV3914603	single nucleotide variant	NM_030777.4(SLC2A10):c.964C>T (p.Pro322Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284402]	uncertain significance	20	46726000	46726000	Human	1	name
616936968	CV4010894	single nucleotide variant	NM_030777.4(SLC2A10):c.782T>C (p.Val261Ala)	Cardiovascular phenotype [RCV005404241]	uncertain significance	20	46725818	46725818	Human		name
12889742	CV403652	single nucleotide variant	NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)	Arterial tortuosity syndrome [RCV000473304]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313174]\|not provided [RCV000997783]\|not specified [RCV003317220]	conflicting interpretations of pathogenicity\|uncertain significance	20	46725358	46725358	Human	2	name
12887298	CV403663	single nucleotide variant	NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr)	Arterial tortuosity syndrome [RCV000468813]	uncertain significance	20	46725553	46725553	Human	1	name
12891383	CV403666	single nucleotide variant	NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)	Arterial tortuosity syndrome [RCV000476482]\|not specified [RCV003235236]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725635	46725635	Human	1	name
12889865	CV404185	single nucleotide variant	NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro)	Arterial tortuosity syndrome [RCV000473540]	uncertain significance	20	46725733	46725733	Human	1	name
12885217	CV404187	single nucleotide variant	NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp)	Arterial tortuosity syndrome [RCV000464934]	uncertain significance	20	46725347	46725347	Human	1	name
12895580	CV410759	single nucleotide variant	NM_030777.4(SLC2A10):c.712C>G (p.Leu238Val)	not provided [RCV000486994]	likely pathogenic\|uncertain significance	20	46725748	46725748	Human		name
12899564	CV410760	single nucleotide variant	NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)	Arterial tortuosity syndrome [RCV001088256]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003302717]\|not provided [RCV000480486]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46725912	46725912	Human	2	name
13480797	CV446256	single nucleotide variant	NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val)	Arterial tortuosity syndrome [RCV001312628]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314915]\|not provided [RCV000521329]	uncertain significance	20	46725491	46725491	Human	2	name
13489919	CV446257	single nucleotide variant	NM_030777.4(SLC2A10):c.484T>C (p.Trp162Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV002329243]\|not provided [RCV000524044]	uncertain significance	20	46725520	46725520	Human	1	name
13481550	CV446258	single nucleotide variant	NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val)	Arterial tortuosity syndrome [RCV001316953]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002420311]\|not provided [RCV000521540]	uncertain significance	20	46725833	46725833	Human	2	name
13464864	CV469395	single nucleotide variant	NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp)	Arterial tortuosity syndrome [RCV000544217]	uncertain significance	20	46725647	46725647	Human	1	name
13468675	CV469401	single nucleotide variant	NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)	Arterial tortuosity syndrome [RCV000559415]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000606630]	pathogenic\|likely pathogenic	20	46725684	46725684	Human	2	name
13501324	CV470440	single nucleotide variant	NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg)	Arterial tortuosity syndrome [RCV000540552]	uncertain significance	20	46725433	46725433	Human	1	name
13467716	CV470441	single nucleotide variant	NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser)	Arterial tortuosity syndrome [RCV000555699]\|not provided [RCV000585103]	uncertain significance	20	46725541	46725541	Human	1	name
13519332	CV486286	single nucleotide variant	NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys)	Arterial tortuosity syndrome [RCV001853956]\|not provided [RCV000585578]	uncertain significance	20	46725511	46725511	Human	1	name
13534021	CV510841	single nucleotide variant	NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp)	Arterial tortuosity syndrome [RCV000644026]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315215]\|not provided [RCV001566144]	uncertain significance	20	46725424	46725424	Human	2	name
13534864	CV510843	single nucleotide variant	NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser)	Arterial tortuosity syndrome [RCV002531852]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315219]	uncertain significance	20	46725716	46725716	Human	2	name
13528938	CV510844	single nucleotide variant	NM_030777.4(SLC2A10):c.949G>C (p.Val317Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV002315220]	uncertain significance	20	46725985	46725985	Human	1	name
13615553	CV533567	single nucleotide variant	NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr)	Arterial tortuosity syndrome [RCV000644028]	uncertain significance	20	46725457	46725457	Human	1	name
13615549	CV533601	single nucleotide variant	NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr)	Arterial tortuosity syndrome [RCV000644032]	uncertain significance	20	46725613	46725613	Human	1	name
13615550	CV533645	single nucleotide variant	NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu)	Arterial tortuosity syndrome [RCV000644031]	likely pathogenic\|uncertain significance	20	46725431	46725431	Human	1	name
13706260	CV537389	single nucleotide variant	NM_030777.4(SLC2A10):c.383G>A (p.Gly128Glu)	not provided [RCV000658915]	uncertain significance	20	46725419	46725419	Human		name
13812820	CV571270	single nucleotide variant	NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe)	Arterial tortuosity syndrome [RCV000703957]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002352203]	uncertain significance	20	46725637	46725637	Human	2	name
13821106	CV571273	single nucleotide variant	NM_030777.4(SLC2A10):c.887G>A (p.Arg296His)	Arterial tortuosity syndrome [RCV000695417]\|not provided [RCV004584794]	uncertain significance	20	46725923	46725923	Human	1	name
13816880	CV572923	single nucleotide variant	NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg)	Arterial tortuosity syndrome [RCV000706655]	uncertain significance	20	46725772	46725772	Human	1	name
13815467	CV573563	single nucleotide variant	NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu)	Arterial tortuosity syndrome [RCV000705729]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822185]	likely benign\|uncertain significance	20	46725833	46725833	Human	2	name
13816173	CV575112	single nucleotide variant	NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro)	Arterial tortuosity syndrome [RCV000692147]	uncertain significance	20	46725566	46725566	Human	1	name
13809935	CV575113	single nucleotide variant	NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly)	Arterial tortuosity syndrome [RCV000687994]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003303114]	uncertain significance	20	46725707	46725707	Human	2	name
14689225	CV615172	single nucleotide variant	NM_030777.4(SLC2A10):c.590A>G (p.Asp197Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV000770705]	uncertain significance	20	46725626	46725626	Human	1	name
14731433	CV648747	single nucleotide variant	NM_030777.4(SLC2A10):c.433G>A (p.Val145Met)	Arterial tortuosity syndrome [RCV000801415]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002332629]\|not provided [RCV004789199]	uncertain significance	20	46725469	46725469	Human	2	name
15120639	CV773144	single nucleotide variant	NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser)	Arterial tortuosity syndrome [RCV002544568]\|not specified [RCV003323764]	benign\|uncertain significance	20	46725782	46725782	Human	1	name
26885770	CV848461	single nucleotide variant	NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn)	Arterial tortuosity syndrome [RCV001043749]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003160312]\|not provided [RCV001759754]	uncertain significance	20	46725682	46725682	Human	2	name
26921364	CV848462	single nucleotide variant	NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile)	Arterial tortuosity syndrome [RCV001060926]	uncertain significance	20	46725862	46725862	Human	1	name
28896719	CV886190	single nucleotide variant	NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys)	Arterial tortuosity syndrome [RCV001141333]	uncertain significance	20	46725401	46725401	Human	1	name
28896722	CV886191	single nucleotide variant	NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile)	Arterial tortuosity syndrome [RCV001141334]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002339416]	uncertain significance	20	46725537	46725537	Human	2	name
28901472	CV886192	single nucleotide variant	NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val)	Arterial tortuosity syndrome [RCV001143185]	uncertain significance	20	46725653	46725653	Human	1	name
28901475	CV886193	single nucleotide variant	NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu)	Arterial tortuosity syndrome [RCV001143186]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002355124]\|not provided [RCV001586003]	likely benign\|uncertain significance	20	46725668	46725668	Human	2	name
28896499	CV904027	single nucleotide variant	NM_030777.4(SLC2A10):c.808G>A (p.Val270Met)	Arterial tortuosity syndrome [RCV001337721]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171028]\|not provided [RCV001751300]	likely benign\|uncertain significance	20	46725844	46725844	Human	2	name
38493937	CV929215	single nucleotide variant	NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg)	Arterial tortuosity syndrome [RCV001224619]	uncertain significance	20	46725569	46725569	Human	1	name
38483792	CV951119	single nucleotide variant	NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg)	Arterial tortuosity syndrome [RCV001236071]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004671285]\|not provided [RCV003234009]	uncertain significance	20	46725598	46725598	Human	2	name
126747326	CV999045	single nucleotide variant	NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile)	Arterial tortuosity syndrome [RCV001296717]	uncertain significance	20	46725985	46725985	Human	1	name
126760179	CV1014166	single nucleotide variant	NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val)	Arterial tortuosity syndrome [RCV001318267]	uncertain significance	20	46726190	46726190	Human	1	name
126742666	CV1014167	single nucleotide variant	NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His)	Arterial tortuosity syndrome [RCV001325516]	uncertain significance	20	46726950	46726950	Human	1	name
126752499	CV1034741	single nucleotide variant	NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr)	Arterial tortuosity syndrome [RCV001338440]	uncertain significance	20	46726252	46726252	Human	1	name
150458512	CV1202771	single nucleotide variant	NM_030777.4(SLC2A10):c.1163G>A (p.Arg388Gln)	Familial thoracic aortic aneurysm and aortic dissection [RCV002324155]\|not provided [RCV001586424]	uncertain significance	20	46726199	46726199	Human	1	name
150554862	CV1304609	single nucleotide variant	NM_030777.4(SLC2A10):c.1360T>A (p.Phe454Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV002386535]\|not provided [RCV001771579]	uncertain significance	20	46726935	46726935	Human	1	name
151758914	CV1342999	single nucleotide variant	NM_030777.4(SLC2A10):c.1384A>G (p.Ile462Val)	Arterial tortuosity syndrome [RCV002024138]	uncertain significance	20	46726959	46726959	Human	1	name
151780342	CV1355917	single nucleotide variant	NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu)	Arterial tortuosity syndrome [RCV002046103]	uncertain significance	20	46726253	46726253	Human	1	name
151780300	CV1361390	single nucleotide variant	NM_030777.4(SLC2A10):c.1604T>G (p.Ile535Ser)	Arterial tortuosity syndrome [RCV001875290]	uncertain significance	20	46733812	46733812	Human	1	name
151809436	CV1374870	single nucleotide variant	NM_030777.4(SLC2A10):c.1265C>G (p.Ala422Gly)	Arterial tortuosity syndrome [RCV001933046]	uncertain significance	20	46726301	46726301	Human	1	name
151880618	CV1384662	single nucleotide variant	NM_030777.4(SLC2A10):c.1439T>A (p.Leu480Gln)	Arterial tortuosity syndrome [RCV001982486]	uncertain significance	20	46729380	46729380	Human	1	name
8692911	CV142877	single nucleotide variant	NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly)	Arterial tortuosity syndrome [RCV000230382]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310712]\|not provided [RCV001573811]\|not specified [RCV000128124]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46726190	46726190	Human	2	name
8692914	CV142880	single nucleotide variant	NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg)	Arterial tortuosity syndrome [RCV000366812]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310713]\|not provided [RCV004717062]\|not specified [RCV000128127]	benign	20	46729482	46729482	Human	2	name
8692918	CV142884	single nucleotide variant	NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala)	Arterial tortuosity syndrome [RCV000277015]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770710]\|not provided [RCV004717064]\|not specified [RCV000128131]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46733760	46733760	Human	2	name
8692919	CV142885	single nucleotide variant	NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val)	Arterial tortuosity syndrome [RCV000363470]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770711]\|not provided [RCV004717065]\|not specified [RCV000128132]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	46733817	46733817	Human	2	name
151726025	CV1433403	single nucleotide variant	NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala)	Arterial tortuosity syndrome [RCV001983688]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004671597]	uncertain significance	20	46729394	46729394	Human	2	name
151768035	CV1434172	single nucleotide variant	NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp)	Arterial tortuosity syndrome [RCV001874168]	uncertain significance	20	46726950	46726950	Human	1	name
151801162	CV1442248	single nucleotide variant	NM_030777.4(SLC2A10):c.1583C>G (p.Thr528Ser)	Arterial tortuosity syndrome [RCV002011584]	uncertain significance	20	46733791	46733791	Human	1	name
151824689	CV1442642	single nucleotide variant	NM_030777.4(SLC2A10):c.1414A>T (p.Thr472Ser)	Arterial tortuosity syndrome [RCV002013727]	uncertain significance	20	46729355	46729355	Human	1	name
151775728	CV1450452	single nucleotide variant	NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter)	Arterial tortuosity syndrome [RCV001915414]	pathogenic	20	46729365	46729365	Human	1	name
151777633	CV1493179	single nucleotide variant	NM_030777.4(SLC2A10):c.1337G>C (p.Arg446Thr)	Arterial tortuosity syndrome [RCV001915578]	uncertain significance	20	46726912	46726912	Human	1	name
151728423	CV1505239	single nucleotide variant	NM_030777.4(SLC2A10):c.1168G>A (p.Ala390Thr)	Arterial tortuosity syndrome [RCV002021045]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004046837]	uncertain significance	20	46726204	46726204	Human	2	name
153305000	CV1687447	single nucleotide variant	NM_030777.4(SLC2A10):c.1016C>T (p.Thr339Ile)	not provided [RCV002263267]	uncertain significance	20	46726052	46726052	Human		name
10450028	CV170948	single nucleotide variant	NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)	Arterial tortuosity syndrome [RCV000202526]\|Thoracic aortic aneurysm or dissection [RCV004782250]\|not provided [RCV000997785]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726884	46726884	Human	2	name
10450042	CV170949	single nucleotide variant	NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)	Arterial tortuosity syndrome [RCV000202558]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003380494]\|not provided [RCV000492992]	pathogenic\|likely pathogenic	20	46726905	46726905	Human	2	name
10450006	CV170950	single nucleotide variant	NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu)	Arterial tortuosity syndrome [RCV000202473]	pathogenic\|likely pathogenic\|not provided	20	46726909	46726909	Human	1	name
155721647	CV1776461	single nucleotide variant	NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe)	Arterial tortuosity syndrome [RCV002296727]\|not provided [RCV005241497]	uncertain significance	20	46726983	46726983	Human	1	name
155741372	CV1779974	single nucleotide variant	NM_030777.4(SLC2A10):c.1529A>G (p.Gln510Arg)	not specified [RCV002302578]	uncertain significance	20	46729470	46729470	Human		name
155701748	CV1790359	single nucleotide variant	NM_030777.4(SLC2A10):c.1162C>G (p.Arg388Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV002359526]	uncertain significance	20	46726198	46726198	Human	1	name
155712278	CV1806082	single nucleotide variant	NM_030777.4(SLC2A10):c.1192C>G (p.Pro398Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV002335904]	uncertain significance	20	46726228	46726228	Human	1	name
155747164	CV1816701	single nucleotide variant	NM_030777.4(SLC2A10):c.1252G>A (p.Val418Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV002416616]	uncertain significance	20	46726288	46726288	Human	1	name
155719083	CV1826130	single nucleotide variant	NM_030777.4(SLC2A10):c.1292C>A (p.Thr431Asn)	Familial thoracic aortic aneurysm and aortic dissection [RCV002380569]	uncertain significance	20	46726867	46726867	Human	1	name
155689301	CV1826666	single nucleotide variant	NM_030777.4(SLC2A10):c.1420G>A (p.Gly474Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002391816]	uncertain significance	20	46729361	46729361	Human	1	name
155681299	CV1829664	single nucleotide variant	NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)	Arterial tortuosity syndrome [RCV003095097]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002389329]	uncertain significance	20	46726978	46726978	Human	2	name
155681977	CV1829771	single nucleotide variant	NM_030777.4(SLC2A10):c.1033T>C (p.Ser345Pro)	Familial thoracic aortic aneurysm and aortic dissection [RCV002389436]	uncertain significance	20	46726069	46726069	Human	1	name
155719235	CV1830541	single nucleotide variant	NM_030777.4(SLC2A10):c.1564G>T (p.Gly522Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV002405497]	uncertain significance	20	46733772	46733772	Human	1	name
155670950	CV1832469	single nucleotide variant	NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)	Arterial tortuosity syndrome [RCV003502662]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002385767]	uncertain significance	20	46726900	46726900	Human	2	name
155708023	CV1833521	single nucleotide variant	NM_030777.4(SLC2A10):c.1546C>T (p.Arg516Trp)	Familial thoracic aortic aneurysm and aortic dissection [RCV002403260]	uncertain significance	20	46729487	46729487	Human	1	name
155709233	CV1833725	single nucleotide variant	NM_030777.4(SLC2A10):c.1555C>G (p.Leu519Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV002403440]	uncertain significance	20	46733763	46733763	Human	1	name
155719697	CV1837408	single nucleotide variant	NM_030777.4(SLC2A10):c.1048G>C (p.Asp350His)	Familial thoracic aortic aneurysm and aortic dissection [RCV002398695]	uncertain significance	20	46726084	46726084	Human	1	name
155716608	CV1844720	single nucleotide variant	NM_030777.4(SLC2A10):c.1093G>A (p.Glu365Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV002448370]\|not specified [RCV004765516]	uncertain significance	20	46726129	46726129	Human	1	name
156354202	CV1894604	single nucleotide variant	NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys)	Arterial tortuosity syndrome [RCV003091213]	uncertain significance	20	46726048	46726048	Human	1	name
155984621	CV1907443	single nucleotide variant	NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser)	Arterial tortuosity syndrome [RCV003097544]	uncertain significance	20	46726228	46726228	Human	1	name
156311084	CV1913528	single nucleotide variant	NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val)	Arterial tortuosity syndrome [RCV002599660]	uncertain significance	20	46733796	46733796	Human	1	name
156209931	CV1932433	single nucleotide variant	NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr)	Arterial tortuosity syndrome [RCV002643955]	uncertain significance	20	46726920	46726920	Human	1	name
8596494	CV19628	single nucleotide variant	NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	Arterial tortuosity syndrome [RCV000004851]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002371760]\|not provided [RCV000199687]	pathogenic\|likely pathogenic	20	46726312	46726312	Human	2	name
156400747	CV1982291	single nucleotide variant	NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp)	Arterial tortuosity syndrome [RCV002635945]	uncertain significance	20	46729353	46729353	Human	1	name
155960267	CV2023567	single nucleotide variant	NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala)	Arterial tortuosity syndrome [RCV002731140]	uncertain significance	20	46733794	46733794	Human	1	name
156262923	CV2030225	single nucleotide variant	NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile)	Arterial tortuosity syndrome [RCV002746371]	uncertain significance	20	46726867	46726867	Human	1	name
156272270	CV2067246	single nucleotide variant	NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu)	Arterial tortuosity syndrome [RCV002856093]	uncertain significance	20	46729389	46729389	Human	1	name
156248184	CV2086306	single nucleotide variant	NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)	Arterial tortuosity syndrome [RCV002876845]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823068]\|not provided [RCV004790259]	likely benign\|uncertain significance	20	46726198	46726198	Human	2	name
10410521	CV210371	single nucleotide variant	NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)	Arterial tortuosity syndrome [RCV000560592]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798662]\|not provided [RCV000727007]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726046	46726046	Human	2	name
10411574	CV210372	single nucleotide variant	NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)	Arterial tortuosity syndrome [RCV000700242]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002408873]\|not provided [RCV000200540]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726093	46726093	Human	2	name
10409317	CV210373	single nucleotide variant	NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser)	Arterial tortuosity syndrome [RCV001367371]\|not provided [RCV000195875]	uncertain significance	20	46726132	46726132	Human	1	name
10410405	CV210374	single nucleotide variant	NM_030777.4(SLC2A10):c.1175G>A (p.Ser392Asn)	not provided [RCV000198110]	uncertain significance	20	46726211	46726211	Human		name
10410008	CV210375	single nucleotide variant	NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)	Arterial tortuosity syndrome [RCV000815839]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798663]\|not specified [RCV000197301]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726244	46726244	Human	2	name
10410451	CV210376	single nucleotide variant	NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys)	Arterial tortuosity syndrome [RCV000341783]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002363011]\|not provided [RCV001705119]	likely benign\|uncertain significance	20	46726261	46726261	Human	2	name
10409610	CV210377	single nucleotide variant	NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln)	Arterial tortuosity syndrome [RCV001037765]\|not provided [RCV000196471]	uncertain significance	20	46726899	46726899	Human	1	name
10410332	CV210378	single nucleotide variant	NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly)	Arterial tortuosity syndrome [RCV000233181]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002381674]	likely pathogenic\|uncertain significance	20	46726926	46726926	Human	2	name
10411079	CV210379	single nucleotide variant	NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)	Aortic aneurysm, familial thoracic 2 [RCV000581259]\|Arterial tortuosity syndrome [RCV000356436]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311060]\|not provided [RCV000766833]\|not specified [RCV003114355]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46726945	46726945	Human	3	name
10409546	CV210380	single nucleotide variant	NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg)	Arterial tortuosity syndrome [RCV000795533]\|not specified [RCV000196340]	likely pathogenic\|uncertain significance	20	46726962	46726962	Human	1	name
10409094	CV210381	single nucleotide variant	NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn)	Arterial tortuosity syndrome [RCV000644029]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002390520]\|not provided [RCV000195424]	uncertain significance	20	46726977	46726977	Human	2	name
10410621	CV210383	single nucleotide variant	NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)	Arterial tortuosity syndrome [RCV000477467]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315621]\|not provided [RCV000198548]	likely benign\|uncertain significance	20	46729356	46729356	Human	2	name
10411668	CV210384	single nucleotide variant	NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val)	Arterial tortuosity syndrome [RCV000702084]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002390519]\|not provided [RCV000200749]	uncertain significance	20	46729364	46729364	Human	2	name
10411263	CV210385	single nucleotide variant	NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys)	Arterial tortuosity syndrome [RCV001040072]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003298258]\|not provided [RCV000199912]	uncertain significance	20	46729422	46729422	Human	2	name
10409459	CV210386	single nucleotide variant	NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)	Arterial tortuosity syndrome [RCV000800770]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315622]\|SLC2A10-related disorder [RCV003417710]\|not provided [RCV000196153]\|not specified [RCV005055706]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	46733779	46733779	Human	2	name , trait , alternate_id
10410547	CV210388	single nucleotide variant	NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys)	Arterial tortuosity syndrome [RCV000526612]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001171033]\|not provided [RCV000198411]	uncertain significance	20	46733808	46733808	Human	2	name
10411625	CV210389	single nucleotide variant	NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val)	Arterial tortuosity syndrome [RCV001857725]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310793]\|not provided [RCV000200650]\|not specified [RCV005055707]	uncertain significance	20	46733824	46733824	Human	2	name
156134447	CV2187963	single nucleotide variant	NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala)	Arterial tortuosity syndrome [RCV003055955]	uncertain significance	20	46726168	46726168	Human	1	name
11547377	CV259078	single nucleotide variant	NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu)	Arterial tortuosity syndrome [RCV000805423]\|Cardiovascular phenotype [RCV000247680]	uncertain significance	20	46726123	46726123	Human	1	name
11547950	CV259080	single nucleotide variant	NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser)	Arterial tortuosity syndrome [RCV000689753]\|Cardiovascular phenotype [RCV000248432]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798752]	uncertain significance	20	46726310	46726310	Human	2	name
401784379	CV2730304	single nucleotide variant	NM_030777.4(SLC2A10):c.1027G>C (p.Gly343Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV003310532]	uncertain significance	20	46726063	46726063	Human	1	name
401797435	CV2742064	single nucleotide variant	NM_030777.4(SLC2A10):c.1466G>A (p.Gly489Asp)	not specified [RCV003324241]	uncertain significance	20	46729407	46729407	Human		name
401828671	CV2743006	single nucleotide variant	NM_030777.4(SLC2A10):c.1210G>C (p.Gly404Arg)	not provided [RCV003325714]	uncertain significance	20	46726246	46726246	Human		name
401896617	CV2791768	single nucleotide variant	NM_030777.4(SLC2A10):c.1469T>G (p.Leu490Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV004353088]	uncertain significance	20	46729410	46729410	Human	1	name
401901800	CV2804476	single nucleotide variant	NM_030777.4(SLC2A10):c.1490T>C (p.Val497Ala)	SLC2A10-related disorder [RCV003393124]	uncertain significance	20	46729431	46729431	Human		name , trait , alternate_id
401924882	CV2805157	single nucleotide variant	NM_030777.4(SLC2A10):c.1181C>G (p.Ala394Gly)	not specified [RCV003404978]	uncertain significance	20	46726217	46726217	Human		name
405782947	CV3322087	single nucleotide variant	NM_030777.4(SLC2A10):c.1090A>G (p.Arg364Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004458977]	likely benign	20	46726126	46726126	Human	1	name
405782951	CV3322088	single nucleotide variant	NM_030777.4(SLC2A10):c.1533G>C (p.Gln511His)	Familial thoracic aortic aneurysm and aortic dissection [RCV004458978]	uncertain significance	20	46729474	46729474	Human	1	name
405683312	CV3387828	single nucleotide variant	NM_030777.4(SLC2A10):c.1046A>T (p.Gln349Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517803]	uncertain significance	20	46726082	46726082	Human	1	name
405683318	CV3387830	single nucleotide variant	NM_030777.4(SLC2A10):c.1112C>T (p.Ala371Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517805]	likely benign	20	46726148	46726148	Human	1	name
405683327	CV3387832	single nucleotide variant	NM_030777.4(SLC2A10):c.1448G>C (p.Gly483Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517807]	uncertain significance	20	46729389	46729389	Human	1	name
405683332	CV3387834	single nucleotide variant	NM_030777.4(SLC2A10):c.1513T>G (p.Leu505Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517809]	uncertain significance	20	46729454	46729454	Human	1	name
405683336	CV3387835	single nucleotide variant	NM_030777.4(SLC2A10):c.1622C>G (p.Ser541Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517810]	uncertain significance	20	46733830	46733830	Human	1	name
407509738	CV3474197	single nucleotide variant	NM_030777.4(SLC2A10):c.1079A>T (p.Asn360Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV004672471]	uncertain significance	20	46726115	46726115	Human	1	name
11632162	CV350051	single nucleotide variant	NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile)	Arterial tortuosity syndrome [RCV000400074]\|not provided [RCV004783776]	uncertain significance	20	46729430	46729430	Human	1	name
596920805	CV3534193	single nucleotide variant	NM_030777.4(SLC2A10):c.1001A>T (p.Asn334Ile)	not specified [RCV004783412]	uncertain significance	20	46726037	46726037	Human		name
596922912	CV3537462	single nucleotide variant	NM_030777.4(SLC2A10):c.1007C>G (p.Thr336Ser)	not provided [RCV004787432]	uncertain significance	20	46726043	46726043	Human		name
597632302	CV3552817	single nucleotide variant	NM_030777.4(SLC2A10):c.1439T>C (p.Leu480Pro)	not provided [RCV004823645]	uncertain significance	20	46729380	46729380	Human		name
597629237	CV3602816	single nucleotide variant	NM_030777.4(SLC2A10):c.1580C>G (p.Ser527Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821735]	uncertain significance	20	46733788	46733788	Human	1	name
597629243	CV3602819	single nucleotide variant	NM_030777.4(SLC2A10):c.1036G>C (p.Gly346Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821737]	likely benign	20	46726072	46726072	Human	1	name
597629247	CV3602821	single nucleotide variant	NM_030777.4(SLC2A10):c.1146C>A (p.Asp382Glu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821739]	uncertain significance	20	46726182	46726182	Human	1	name
597629254	CV3602824	single nucleotide variant	NM_030777.4(SLC2A10):c.1381T>A (p.Phe461Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821742]	uncertain significance	20	46726956	46726956	Human	1	name
597691684	CV3720842	single nucleotide variant	NM_030777.4(SLC2A10):c.1544G>A (p.Arg515Lys)	Arterial tortuosity syndrome [RCV005032555]	uncertain significance	20	46729485	46729485	Human	1	name
597852674	CV3743423	single nucleotide variant	NM_030777.4(SLC2A10):c.1478T>G (p.Ile493Ser)	Arterial tortuosity syndrome [RCV005060773]	uncertain significance	20	46729419	46729419	Human	1	name
597918121	CV3767973	single nucleotide variant	NM_030777.4(SLC2A10):c.1117A>G (p.Lys373Glu)	Arterial tortuosity syndrome [RCV005114774]	uncertain significance	20	46726153	46726153	Human	1	name
597918127	CV3767974	single nucleotide variant	NM_030777.4(SLC2A10):c.1190G>T (p.Gly397Val)	Arterial tortuosity syndrome [RCV005114775]	uncertain significance	20	46726226	46726226	Human	1	name
12833237	CV378259	single nucleotide variant	NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His)	Arterial tortuosity syndrome [RCV001136614]\|not provided [RCV000418131]	uncertain significance	20	46726050	46726050	Human	1	name
597891342	CV3836037	single nucleotide variant	NM_030777.4(SLC2A10):c.1465G>T (p.Gly489Cys)	Arterial tortuosity syndrome [RCV005179810]	uncertain significance	20	46729406	46729406	Human	1	name
597955874	CV3841959	single nucleotide variant	NM_030777.4(SLC2A10):c.1333G>A (p.Gly445Arg)	Arterial tortuosity syndrome [RCV005191456]	uncertain significance	20	46726908	46726908	Human	1	name
597913849	CV3851053	single nucleotide variant	NM_030777.4(SLC2A10):c.1446C>A (p.Tyr482Ter)	Arterial tortuosity syndrome [RCV005204021]	pathogenic	20	46729387	46729387	Human	1	name
598169869	CV3914596	single nucleotide variant	NM_030777.4(SLC2A10):c.1210G>A (p.Gly404Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284396]	likely benign	20	46726246	46726246	Human	1	name
598169880	CV3914602	single nucleotide variant	NM_030777.4(SLC2A10):c.1364A>C (p.Asn455Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284401]	uncertain significance	20	46726939	46726939	Human	1	name
598169883	CV3914604	single nucleotide variant	NM_030777.4(SLC2A10):c.1429T>C (p.Trp477Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284403]	uncertain significance	20	46729370	46729370	Human	1	name
598169885	CV3914605	single nucleotide variant	NM_030777.4(SLC2A10):c.1099A>G (p.Ile367Val)	Familial thoracic aortic aneurysm and aortic dissection [RCV005284404]	likely benign	20	46726135	46726135	Human	1	name
598177818	CV4008349	single nucleotide variant	NM_030777.4(SLC2A10):c.1365C>G (p.Asn455Lys)	Arterial tortuosity syndrome [RCV005393868]	uncertain significance	20	46726940	46726940	Human	1	name
12886365	CV404192	single nucleotide variant	NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met)	Arterial tortuosity syndrome [RCV000467080]	uncertain significance	20	46733819	46733819	Human	1	name
12901301	CV410762	single nucleotide variant	NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr)	Arterial tortuosity syndrome [RCV000764247]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822071]\|not provided [RCV000484355]	uncertain significance	20	46729397	46729397	Human	2	name
13465710	CV470444	single nucleotide variant	NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn)	Arterial tortuosity syndrome [RCV001456321]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404473]\|SLC2A10-related disorder [RCV003905405]\|not provided [RCV000836031]\|not specified [RCV001358748]	benign\|likely benign	20	46733767	46733767	Human	2	name , trait , alternate_id
13465950	CV470933	single nucleotide variant	NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr)	Arterial tortuosity syndrome [RCV000549142]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004024041]\|not provided [RCV001584292]	likely benign\|uncertain significance	20	46726270	46726270	Human	2	name
13528513	CV510845	single nucleotide variant	NM_030777.4(SLC2A10):c.1018G>A (p.Gly340Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002315217]	uncertain significance	20	46726054	46726054	Human	1	name
13534230	CV510847	single nucleotide variant	NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp)	Arterial tortuosity syndrome [RCV002532814]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315221]	uncertain significance	20	46729398	46729398	Human	2	name
13615555	CV534129	single nucleotide variant	NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His)	Arterial tortuosity syndrome [RCV000644027]	uncertain significance	20	46729480	46729480	Human	1	name
13808193	CV573566	single nucleotide variant	NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His)	Arterial tortuosity syndrome [RCV000701517]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822181]\|not provided [RCV000997786]	uncertain significance	20	46733809	46733809	Human	2	name
14689227	CV615173	single nucleotide variant	NM_030777.4(SLC2A10):c.1080T>G (p.Asn360Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV000770707]	uncertain significance	20	46726116	46726116	Human	1	name
14689230	CV615174	single nucleotide variant	NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)	Arterial tortuosity syndrome [RCV001035084]\|Familial thoracic aortic aneurysm and aortic dissection [RCV000770708]\|not specified [RCV002265875]	uncertain significance	20	46726240	46726240	Human	2	name
14689231	CV615175	single nucleotide variant	NM_030777.4(SLC2A10):c.1331G>A (p.Arg444Gln)	Familial thoracic aortic aneurysm and aortic dissection [RCV000770709]	uncertain significance	20	46726906	46726906	Human	1	name
14707369	CV648748	single nucleotide variant	NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg)	Arterial tortuosity syndrome [RCV000808773]\|not provided [RCV004768672]	uncertain significance	20	46726045	46726045	Human	1	name
14721443	CV648749	single nucleotide variant	NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)	Arterial tortuosity syndrome [RCV000813485]\|not specified [RCV001527009]	likely benign\|uncertain significance	20	46726223	46726223	Human	1	name
14724970	CV648750	single nucleotide variant	NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln)	Arterial tortuosity syndrome [RCV000798617]	uncertain significance	20	46729488	46729488	Human	1	name
14721091	CV648751	single nucleotide variant	NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro)	Arterial tortuosity syndrome [RCV000796946]	uncertain significance	20	46729488	46729488	Human	1	name
14722265	CV648752	single nucleotide variant	NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp)	Arterial tortuosity syndrome [RCV000797466]	uncertain significance	20	46733794	46733794	Human	1	name
14718606	CV648753	single nucleotide variant	NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys)	Arterial tortuosity syndrome [RCV000812278]\|not specified [RCV004768680]	uncertain significance	20	46733814	46733814	Human	1	name
21068273	CV797990	single nucleotide variant	NM_030777.4(SLC2A10):c.1265C>T (p.Ala422Val)	not provided [RCV000997784]	uncertain significance	20	46726301	46726301	Human		name
26885111	CV848463	single nucleotide variant	NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)	Arterial tortuosity syndrome [RCV001043347]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002416356]\|not provided [RCV001570651]\|not specified [RCV005236554]	likely benign\|uncertain significance	20	46726115	46726115	Human	2	name
28889908	CV886194	single nucleotide variant	NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly)	Arterial tortuosity syndrome [RCV001138863]	uncertain significance	20	46726261	46726261	Human	1	name
38460231	CV938997	single nucleotide variant	NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe)	Arterial tortuosity syndrome [RCV001211791]	uncertain significance	20	46726219	46726219	Human	1	name
38466494	CV938998	single nucleotide variant	NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)	Arterial tortuosity syndrome [RCV001201870]\|Familial aortopathy [RCV004768906]	pathogenic\|likely pathogenic\|uncertain significance	20	46729406	46729406	Human	2	name
38492027	CV958855	single nucleotide variant	NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro)	Arterial tortuosity syndrome [RCV001239845]	uncertain significance	20	46729367	46729367	Human	1	name
126739558	CV999046	single nucleotide variant	NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys)	Arterial tortuosity syndrome [RCV001305156]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003166730]	uncertain significance	20	46726038	46726038	Human	2	name
150458637	CV1202792	insertion	NM_030777.4(SLC2A10):c.5-163_5-162insCGGATGGA	not provided [RCV001586445]	likely benign	20	46724875	46724876	Human		name
151868382	CV1366913	microsatellite	NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs)	Arterial tortuosity syndrome [RCV001939459]	pathogenic	20	46725505	46725508	Human		name
10450021	CV170945	deletion	NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)	Arterial tortuosity syndrome [RCV000202501]\|Familial thoracic aortic aneurysm and aortic dissection [RCV001798463]\|not provided [RCV000599026]	pathogenic\|not provided	20	46725764	46725767	Human	2	name
243055849	CV2416581	deletion	NM_030777.4(SLC2A10):c.761_762del (p.Ala254fs)	Familial thoracic aortic aneurysm and aortic dissection [RCV003150666]	likely pathogenic	20	46725797	46725798	Human	1	name
404978042	CV2852063	deletion	NM_030777.4(SLC2A10):c.636_648del (p.Arg213fs)	Familial thoracic aortic aneurysm and aortic dissection [RCV003486417]	likely pathogenic	20	46725672	46725684	Human	1	name
598122759	CV3889911	microsatellite	NM_030777.4(SLC2A10):c.297_301del (p.Trp100fs)	Arterial tortuosity syndrome [RCV005250428]	pathogenic	20	46725327	46725331	Human		name
126746428	CV1015384	microsatellite	NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs)	Arterial tortuosity syndrome [RCV001328465]	likely pathogenic	20	46726965	46726966	Human		name
405683315	CV3387829	microsatellite	NM_030777.4(SLC2A10):c.1057_1058del (p.Leu353fs)	Familial thoracic aortic aneurysm and aortic dissection [RCV004517804]	pathogenic	20	46726089	46726090	Human		name
150515535	CV1227589	insertion	NM_030777.4(SLC2A10):c.1411+175_1411+176insTTTTACATCA	not provided [RCV001638863]	benign	20	46727161	46727162	Human		name
12895514	CV410761	indel	NM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs)	not provided [RCV000486742]	pathogenic	20	46726314	46726323	Human		name
126737898	CV1001165	deletion	NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg)	Arterial tortuosity syndrome [RCV003611550]\|not provided [RCV001311989]	uncertain significance	20	46725146	46725157	Human	1	name
402466197	CV2925142	indel	NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)	Arterial tortuosity syndrome [RCV003503234]	pathogenic	20	46725379	46725868	Human		name

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