Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)	SNV Germline	Chr20:46725546	Pathogenic	Arterial tortuosity syndrome Condition: not provided	No Assertion Criteria Provided	CA340263	rs_80358229	5 SubmittersRCV000004847 RCV001579411
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	SNV Germline	Chr20:46725279	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Condition: not provided SLC2A10-related disorder Familial aortopathy	Criteria Provided Multiple Submitters No Conflicts	CA340266	rs_80358230	11 SubmittersRCV000004850 RCV000498947 RCV003914808 RCV006456601
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	SNV Germline	Chr20:46726312	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA324232	rs_121908172	8 SubmittersRCV000004851 RCV000199687 RCV002371760
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	SNV Germline	Chr20:46725430	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340267	rs_121908173	16 SubmittersRCV000004852 RCV000616750 RCV001558568
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)	SNV Germline	Chr20:46725852	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA293549	rs_148058006	14 SubmittersRCV000128123 RCV000228430 RCV001171029 RCV003436949
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)	SNV Germline	Chr20:46729453	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA293554	rs_117587497	13 SubmittersRCV000128126 RCV000227382 RCV000756646 RCV001171032
NM_030777.4(SLC2A10):c.-15C>T	SNV Germline	Chr20:46709722	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA293568	rs_377142129	6 SubmittersRCV000128135 RCV000394632 RCV001798429 RCV002510788
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	SNV Germline	Chr20:46725349	Pathogenic/Likely pathogenic	not specified Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial aortopathy	Criteria Provided Multiple Submitters No Conflicts	CA249014	rs_767864243	10 SubmittersRCV000202814 RCV000202447 RCV000997782 RCV002310718 RCV004526620
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)	SNV Germline	Chr20:46725453	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347716	rs_572620317	3 SubmittersRCV000202463
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)	SNV Germline	Chr20:46725721	Pathogenic	Arterial tortuosity syndrome Cardiovascular phenotype Thoracic aortic aneurysm or dissection Familial aortopathy	Criteria Provided Multiple Submitters No Conflicts	CA347762	rs_756457861	9 SubmittersRCV000202510 RCV000248625 RCV005416029 RCV005431491
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)	SNV Germline	Chr20:46725727	Pathogenic/Likely pathogenic	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA319966	rs_146579504	8 SubmittersRCV000195605 RCV000202453 RCV004019778
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)	SNV Germline	Chr20:46725728	Pathogenic	Arterial tortuosity syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA346910	rs_771028960	5 SubmittersRCV000185549 RCV000251075
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)	SNV Germline	Chr20:46725792	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA347710	rs_864309478	2 SubmittersRCV000202459
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)	SNV Germline	Chr20:46726884	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Condition: not provided Thoracic aortic aneurysm or dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA347770	rs_763220502	9 SubmittersRCV000202526 RCV000997785 RCV004782250 RCV005492791
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)	SNV Germline	Chr20:46726905	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA347799	rs_370547023	8 SubmittersRCV000202558 RCV000492992 RCV003380494
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu)	SNV Germline	Chr20:46726909	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA347725	rs_753723351	2 SubmittersRCV000202473
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)	SNV Germline	Chr20:46725551	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA241805	rs_143301610	12 SubmittersRCV000199609 RCV000319871 RCV000724210 RCV000770704
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)	SNV Germline	Chr20:46729405	Conflicting classifications of pathogenicity	not specified Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA245449	rs_142639587	6 SubmittersRCV000178369 RCV000724461 RCV001087931 RCV002310744
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)	SNV Germline	Chr20:46725350	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323937	rs_753280877	4 SubmittersRCV000585246 RCV001853162 RCV002321792
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)	SNV Germline	Chr20:46725352	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA320171	rs_6094438	6 SubmittersRCV000687656 RCV000756648 RCV002321791 RCV003488452
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)	SNV Germline	Chr20:46725353	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA322497	rs_144095826	8 SubmittersRCV000354340 RCV001171026 RCV001705118 RCV003987443
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)	SNV Germline	Chr20:46725540	Conflicting classifications of pathogenicity	Condition: not provided not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324019	rs_540023880	4 SubmittersRCV000199476 RCV001192939 RCV002054312 RCV002336533
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln)	SNV Germline	Chr20:46725680	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324670	rs_774497964	3 SubmittersRCV000200110 RCV001857723 RCV002363010
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)	SNV Germline	Chr20:46725801	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA320695	rs_142106322	13 SubmittersRCV000196275 RCV000295195 RCV000770706 RCV001580088
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)	SNV Germline	Chr20:46725816	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322946	rs_181500247	5 SubmittersRCV000198441 RCV000644034 RCV001726041 RCV002408872
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)	SNV Germline	Chr20:46725884	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA322287	rs_145994112	4 SubmittersRCV000197827 RCV002315623 RCV000685755
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)	SNV Germline	Chr20:46725967	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA320537	rs_139932041	8 SubmittersRCV000196120 RCV000340579 RCV001171030 RCV005237695
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)	SNV Germline	Chr20:46726046	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322851	rs_150745395	6 SubmittersRCV000560592 RCV000727007 RCV001798662
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)	SNV Germline	Chr20:46726093	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325128	rs_200196034	7 SubmittersRCV000200540 RCV000700242 RCV002408873
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)	SNV Germline	Chr20:46726244	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321752	rs_199912561	5 SubmittersRCV000197301 RCV000815839 RCV001798663
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)	SNV Germline	Chr20:46726945	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Aortic aneurysm, familial thoracic 2 Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA324057	rs_201393026	10 SubmittersRCV000356436 RCV000581259 RCV000766833 RCV002311060 RCV003114355
NM_030777.4(SLC2A10):c.1411+2T>A	SNV Germline	Chr20:46726988	Pathogenic/Likely pathogenic	Condition: not provided Arterial tortuosity syndrome Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA322146	rs_761721442	6 SubmittersRCV000197685 RCV001781572 RCV005893454
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)	SNV Germline	Chr20:46729356	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323067	rs_563376340	3 SubmittersRCV000198548 RCV000477467 RCV002315621
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)	SNV Germline	Chr20:46733779	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection SLC2A10-related disorder not specified	Criteria Provided Conflicting Classifications	CA320576	rs_370141550	7 SubmittersRCV000196153 RCV000800770 RCV002315622 RCV003417710 RCV005055706
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser)	SNV Germline	Chr20:46725646	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA9892009	rs_755339268	2 SubmittersRCV000247481 RCV003611506
NM_030777.4(SLC2A10):c.-22A>G	SNV Germline	Chr20:46709715	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA10643990	rs_886056723	2 SubmittersRCV001537350 RCV000347203
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)	SNV Germline	Chr20:46725366	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified SLC2A10-related disorder	Criteria Provided Conflicting Classifications	CA9891956	rs_199848479	9 SubmittersRCV000260059 RCV001705507 RCV002314063 RCV003330648 RCV003932354
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)	SNV Germline	Chr20:46726880	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA9892163	rs_201159437	5 SubmittersRCV000297350 RCV000437797 RCV002379233 RCV006445885
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)	SNV Germline	Chr20:46733804	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA10652577	rs_886056727	2 SubmittersRCV000313426
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)	SNV Germline	Chr20:46725661	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892010	rs_748662135	5 SubmittersRCV000275279 RCV001718719 RCV002314064
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)	SNV Germline	Chr20:46725846	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892050	rs_774452914	4 SubmittersRCV000326716 RCV000611666 RCV004822036
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)	SNV Germline	Chr20:46725997	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892078	rs_372596900	4 SubmittersRCV000475316 RCV001703590 RCV002374646
NM_030777.4(SLC2A10):c.1412-3C>T	SNV Germline	Chr20:46729350	Conflicting classifications of pathogenicity	not specified Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892205	rs_374857656	5 SubmittersRCV000421568 RCV000808509 RCV002313128
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)	SNV Germline	Chr20:46725358	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA9891955	rs_373375540	9 SubmittersRCV000473304 RCV000997783 RCV002313174 RCV003317220
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)	SNV Germline	Chr20:46725635	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892005	rs_75218052	4 SubmittersRCV000476482 RCV003235236 RCV005480373
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)	SNV Germline	Chr20:46733813	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA9892275	rs_148470005	5 SubmittersRCV000462576 RCV001721532 RCV003168905 RCV004526684
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)	SNV Germline	Chr20:46725912	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892061	rs_777604168	3 SubmittersRCV000480486 RCV001088256 RCV003302717
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)	SNV Germline	Chr20:46725684	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA315755913	rs_1015798796	4 SubmittersRCV000559415 RCV000606630
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)	SNV Germline	Chr20:46725468	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection SLC2A10-related disorder	Criteria Provided Conflicting Classifications	CA9891974	rs_371344477	4 SubmittersRCV000867844 RCV002315216 RCV003917986
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu)	SNV Germline	Chr20:46725431	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA409266928	rs_376346077	1 SubmittersRCV000644031
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg)	SNV Germline	Chr20:46725772	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA409267943	rs_1568985955	2 SubmittersRCV000706655
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu)	SNV Germline	Chr20:46725833	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892045	rs_369484751	2 SubmittersRCV000705729 RCV004822185
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)	SNV Germline	Chr20:46726223	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892116	rs_755654519	3 SubmittersRCV000813485 RCV001527009 RCV005732206
NM_030777.4(SLC2A10):c.1288+2T>C	SNV Germline	Chr20:46726326	Likely pathogenic	Arterial tortuosity syndrome Malignant tumor of urinary bladder	Criteria Provided Single Submitter	CA9892140	rs_768848335	2 SubmittersRCV000812297 RCV005902043
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser)	SNV Germline	Chr20:46725782	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome not specified	Criteria Provided Conflicting Classifications	CA9892034	rs_531533787	2 SubmittersRCV002544568 RCV003323764
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)	SNV Germline	Chr20:46726068	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA510848250	rs_1301992983	2 SubmittersRCV001138862
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)	SNV Germline	Chr20:46726115	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA9892101	rs_139117495	5 SubmittersRCV001043347 RCV001570651 RCV002416356 RCV005236554
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu)	SNV Germline	Chr20:46725668	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA9892013	rs_151324893	5 SubmittersRCV001143186 RCV002355124 RCV001586003
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met)	SNV Germline	Chr20:46725844	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA9892048	rs_749220947	5 SubmittersRCV001171028 RCV001751300 RCV001337721
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)	SNV Germline	Chr20:46729406	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial aortopathy Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA9892228	rs_201268555	4 SubmittersRCV001201870 RCV004768906 RCV005732301 RCV005622074
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)	SNV Germline	Chr20:46725103	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA9891907	rs_760225405	2 SubmittersRCV001269301
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)	SNV Germline	Chr20:46725521	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA409267092	rs_2123045274	1 SubmittersRCV001784984
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln)	SNV Germline	Chr20:46725431	Conflicting classifications of pathogenicity	Condition: not provided Arterial tortuosity syndrome Familial aortopathy	Criteria Provided Conflicting Classifications	CA9891969	rs_376346077	3 SubmittersRCV001837619 RCV002542811 RCV005429359
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)	SNV Germline	Chr20:46725712	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA9892023	rs_142402955	4 SubmittersRCV002015102 RCV002361363 RCV005242144
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys)	SNV Germline	Chr20:46725763	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Multiple Submitters No Conflicts	CA409267924	rs_1434246419	2 SubmittersRCV001993032
NM_030777.4(SLC2A10):c.5-2A>G	SNV Germline	Chr20:46725039	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA409266063	rs_770701918	1 SubmittersRCV001970627
NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala)	SNV Germline	Chr20:46729394	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA9892223	rs_138245283	2 SubmittersRCV001983688 RCV004671597
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter)	SNV Germline	Chr20:46729365	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA409273084	rs_2123062030	1 SubmittersRCV001915414
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)	SNV Germline	Chr20:46725189	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Arterial tortuosity syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA510847422	rs_1367206658	3 SubmittersRCV002403136 RCV003095305 RCV006442797
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)	SNV Germline	Chr20:46709737	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome	Criteria Provided Conflicting Classifications	CA409262051	rs_1355346296	2 SubmittersRCV002835072
NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)	SNV Germline	Chr20:46726198	Conflicting classifications of pathogenicity	Arterial tortuosity syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA9892112	rs_374891798	3 SubmittersRCV002876845 RCV004823068 RCV004790259
NM_030777.4(SLC2A10):c.1289-2A>G	SNV Germline	Chr20:46726862	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA409271591	rs_2515594540	1 SubmittersRCV003027738
NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)	SNV Germline	Chr20:46725935	Pathogenic/Likely pathogenic	Arterial tortuosity syndrome Familial aortopathy	Criteria Provided Multiple Submitters No Conflicts	CA9892065	rs_771702107	3 SubmittersRCV003334359 RCV004701025
NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)	SNV Unknown	Chr20:46725104	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter	CA409266281	rs_1979801533	1 SubmittersRCV003313765
NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)	SNV Germline	Chr20:46709737	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Arterial tortuosity syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004672470 RCV005023620
NM_030777.4(SLC2A10):c.1446C>A (p.Tyr482Ter)	SNV Germline	Chr20:46729387	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005204021
NM_030777.4(SLC2A10):c.1A>C (p.Met1Leu)	SNV Germline	Chr20:46709737	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005206605
NM_030777.4(SLC2A10):c.4+5G>A	SNV Germline	Chr20:46709745	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005638366
NM_030777.4(SLC2A10):c.453T>A (p.Tyr151Ter)	SNV Germline	Chr20:46725489	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006524204
NM_030777.4(SLC2A10):c.912T>G (p.Cys304Trp)	SNV Germline	Chr20:46725948	Pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006581280
NM_030777.4(SLC2A10):c.68G>A (p.Gly23Asp)	SNV Germline	Chr20:46725104	Likely pathogenic	Arterial tortuosity syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006619325

NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)

SNV
Germline

Chr20:46725546

Pathogenic

Arterial tortuosity syndrome
Condition: not provided

No Assertion Criteria Provided

CA340263

rs_80358229

5 SubmittersRCV000004847 RCV001579411

NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)

SNV
Germline

Chr20:46725279

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Condition: not provided
SLC2A10-related disorder
Familial aortopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA340266

rs_80358230

11 SubmittersRCV000004850 RCV000498947 RCV003914808 RCV006456601

NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)

SNV
Germline

Chr20:46726312

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA324232

rs_121908172

8 SubmittersRCV000004851 RCV000199687 RCV002371760

NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)

SNV
Germline

Chr20:46725430

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340267

rs_121908173

16 SubmittersRCV000004852 RCV000616750 RCV001558568

NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)

SNV
Germline

Chr20:46725852

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293549

rs_148058006

14 SubmittersRCV000128123 RCV000228430 RCV001171029 RCV003436949

NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)

SNV
Germline

Chr20:46729453

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA293554

rs_117587497

13 SubmittersRCV000128126 RCV000227382 RCV000756646 RCV001171032

NM_030777.4(SLC2A10):c.-15C>T

SNV
Germline

Chr20:46709722

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293568

rs_377142129

6 SubmittersRCV000128135 RCV000394632 RCV001798429 RCV002510788

NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr20:46725349

Pathogenic/Likely pathogenic

not specified
Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial aortopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA249014

rs_767864243

10 SubmittersRCV000202814 RCV000202447 RCV000997782 RCV002310718 RCV004526620

NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)

SNV
Germline

Chr20:46725453

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347716

rs_572620317

3 SubmittersRCV000202463

NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)

SNV
Germline

Chr20:46725721

Pathogenic

Arterial tortuosity syndrome
Cardiovascular phenotype
Thoracic aortic aneurysm or dissection
Familial aortopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA347762

rs_756457861

9 SubmittersRCV000202510 RCV000248625 RCV005416029 RCV005431491

NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)

SNV
Germline

Chr20:46725727

Pathogenic/Likely pathogenic

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA319966

rs_146579504

8 SubmittersRCV000195605 RCV000202453 RCV004019778

NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)

SNV
Germline

Chr20:46725728

Pathogenic

Arterial tortuosity syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA346910

rs_771028960

5 SubmittersRCV000185549 RCV000251075

NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)

SNV
Germline

Chr20:46725792

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA347710

rs_864309478

2 SubmittersRCV000202459

NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)

SNV
Germline

Chr20:46726884

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Condition: not provided
Thoracic aortic aneurysm or dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA347770

rs_763220502

9 SubmittersRCV000202526 RCV000997785 RCV004782250 RCV005492791

NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)

SNV
Germline

Chr20:46726905

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA347799

rs_370547023

8 SubmittersRCV000202558 RCV000492992 RCV003380494

NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu)

SNV
Germline

Chr20:46726909

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA347725

rs_753723351

2 SubmittersRCV000202473

NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)

SNV
Germline

Chr20:46725551

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA241805

rs_143301610

12 SubmittersRCV000199609 RCV000319871 RCV000724210 RCV000770704

NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)

SNV
Germline

Chr20:46729405

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA245449

rs_142639587

6 SubmittersRCV000178369 RCV000724461 RCV001087931 RCV002310744

NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)

SNV
Germline

Chr20:46725350

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323937

rs_753280877

4 SubmittersRCV000585246 RCV001853162 RCV002321792

NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)

SNV
Germline

Chr20:46725352

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA320171

rs_6094438

6 SubmittersRCV000687656 RCV000756648 RCV002321791 RCV003488452

NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)

SNV
Germline

Chr20:46725353

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA322497

rs_144095826

8 SubmittersRCV000354340 RCV001171026 RCV001705118 RCV003987443

NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)

SNV
Germline

Chr20:46725540

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324019

rs_540023880

4 SubmittersRCV000199476 RCV001192939 RCV002054312 RCV002336533

NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln)

SNV
Germline

Chr20:46725680

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324670

rs_774497964

3 SubmittersRCV000200110 RCV001857723 RCV002363010

NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)

SNV
Germline

Chr20:46725801

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320695

rs_142106322

13 SubmittersRCV000196275 RCV000295195 RCV000770706 RCV001580088

NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)

SNV
Germline

Chr20:46725816

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322946

rs_181500247

5 SubmittersRCV000198441 RCV000644034 RCV001726041 RCV002408872

NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)

SNV
Germline

Chr20:46725884

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA322287

rs_145994112

4 SubmittersRCV000197827 RCV002315623 RCV000685755

NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)

SNV
Germline

Chr20:46725967

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA320537

rs_139932041

8 SubmittersRCV000196120 RCV000340579 RCV001171030 RCV005237695

NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)

SNV
Germline

Chr20:46726046

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322851

rs_150745395

6 SubmittersRCV000560592 RCV000727007 RCV001798662

NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)

SNV
Germline

Chr20:46726093

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325128

rs_200196034

7 SubmittersRCV000200540 RCV000700242 RCV002408873

NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)

SNV
Germline

Chr20:46726244

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321752

rs_199912561

5 SubmittersRCV000197301 RCV000815839 RCV001798663

NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)

SNV
Germline

Chr20:46726945

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Aortic aneurysm, familial thoracic 2
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA324057

rs_201393026

10 SubmittersRCV000356436 RCV000581259 RCV000766833 RCV002311060 RCV003114355

NM_030777.4(SLC2A10):c.1411+2T>A

SNV
Germline

Chr20:46726988

Pathogenic/Likely pathogenic

Condition: not provided
Arterial tortuosity syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA322146

rs_761721442

6 SubmittersRCV000197685 RCV001781572 RCV005893454

NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)

SNV
Germline

Chr20:46729356

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323067

rs_563376340

3 SubmittersRCV000198548 RCV000477467 RCV002315621

NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)

SNV
Germline

Chr20:46733779

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
SLC2A10-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA320576

rs_370141550

7 SubmittersRCV000196153 RCV000800770 RCV002315622 RCV003417710 RCV005055706

NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser)

SNV
Germline

Chr20:46725646

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA9892009

rs_755339268

2 SubmittersRCV000247481 RCV003611506

NM_030777.4(SLC2A10):c.-22A>G

SNV
Germline

Chr20:46709715

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA10643990

rs_886056723

2 SubmittersRCV001537350 RCV000347203

NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)

SNV
Germline

Chr20:46725366

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
SLC2A10-related disorder

Criteria Provided
Conflicting Classifications

CA9891956

rs_199848479

9 SubmittersRCV000260059 RCV001705507 RCV002314063 RCV003330648 RCV003932354

NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)

SNV
Germline

Chr20:46726880

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9892163

rs_201159437

5 SubmittersRCV000297350 RCV000437797 RCV002379233 RCV006445885

NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)

SNV
Germline

Chr20:46733804

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA10652577

rs_886056727

2 SubmittersRCV000313426

NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)

SNV
Germline

Chr20:46725661

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892010

rs_748662135

5 SubmittersRCV000275279 RCV001718719 RCV002314064

NM_030777.4(SLC2A10):c.810G>C (p.Val270=)

SNV
Germline

Chr20:46725846

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892050

rs_774452914

4 SubmittersRCV000326716 RCV000611666 RCV004822036

NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)

SNV
Germline

Chr20:46725997

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892078

rs_372596900

4 SubmittersRCV000475316 RCV001703590 RCV002374646

NM_030777.4(SLC2A10):c.1412-3C>T

SNV
Germline

Chr20:46729350

Conflicting classifications of pathogenicity

not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892205

rs_374857656

5 SubmittersRCV000421568 RCV000808509 RCV002313128

NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)

SNV
Germline

Chr20:46725358

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA9891955

rs_373375540

9 SubmittersRCV000473304 RCV000997783 RCV002313174 RCV003317220

NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)

SNV
Germline

Chr20:46725635

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892005

rs_75218052

4 SubmittersRCV000476482 RCV003235236 RCV005480373

NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)

SNV
Germline

Chr20:46733813

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA9892275

rs_148470005

5 SubmittersRCV000462576 RCV001721532 RCV003168905 RCV004526684

NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)

SNV
Germline

Chr20:46725912

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892061

rs_777604168

3 SubmittersRCV000480486 RCV001088256 RCV003302717

NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)

SNV
Germline

Chr20:46725684

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA315755913

rs_1015798796

4 SubmittersRCV000559415 RCV000606630

NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)

SNV
Germline

Chr20:46725468

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
SLC2A10-related disorder

Criteria Provided
Conflicting Classifications

CA9891974

rs_371344477

4 SubmittersRCV000867844 RCV002315216 RCV003917986

NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu)

SNV
Germline

Chr20:46725431

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA409266928

rs_376346077

1 SubmittersRCV000644031

NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg)

SNV
Germline

Chr20:46725772

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA409267943

rs_1568985955

2 SubmittersRCV000706655

NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu)

SNV
Germline

Chr20:46725833

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892045

rs_369484751

2 SubmittersRCV000705729 RCV004822185

NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)

SNV
Germline

Chr20:46726223

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892116

rs_755654519

3 SubmittersRCV000813485 RCV001527009 RCV005732206

NM_030777.4(SLC2A10):c.1288+2T>C

SNV
Germline

Chr20:46726326

Likely pathogenic

Arterial tortuosity syndrome
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

CA9892140

rs_768848335

2 SubmittersRCV000812297 RCV005902043

NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser)

SNV
Germline

Chr20:46725782

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
not specified

Criteria Provided
Conflicting Classifications

CA9892034

rs_531533787

2 SubmittersRCV002544568 RCV003323764

NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)

SNV
Germline

Chr20:46726068

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA510848250

rs_1301992983

2 SubmittersRCV001138862

NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)

SNV
Germline

Chr20:46726115

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA9892101

rs_139117495

5 SubmittersRCV001043347 RCV001570651 RCV002416356 RCV005236554

NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu)

SNV
Germline

Chr20:46725668

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9892013

rs_151324893

5 SubmittersRCV001143186 RCV002355124 RCV001586003

NM_030777.4(SLC2A10):c.808G>A (p.Val270Met)

SNV
Germline

Chr20:46725844

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA9892048

rs_749220947

5 SubmittersRCV001171028 RCV001751300 RCV001337721

NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)

SNV
Germline

Chr20:46729406

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial aortopathy
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9892228

rs_201268555

4 SubmittersRCV001201870 RCV004768906 RCV005732301 RCV005622074

NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)

SNV
Germline

Chr20:46725103

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA9891907

rs_760225405

2 SubmittersRCV001269301

NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)

SNV
Germline

Chr20:46725521

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA409267092

rs_2123045274

1 SubmittersRCV001784984

NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln)

SNV
Germline

Chr20:46725431

Conflicting classifications of pathogenicity

Condition: not provided
Arterial tortuosity syndrome
Familial aortopathy

Criteria Provided
Conflicting Classifications

CA9891969

rs_376346077

3 SubmittersRCV001837619 RCV002542811 RCV005429359

NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)

SNV
Germline

Chr20:46725712

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9892023

rs_142402955

4 SubmittersRCV002015102 RCV002361363 RCV005242144

NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys)

SNV
Germline

Chr20:46725763

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA409267924

rs_1434246419

2 SubmittersRCV001993032

NM_030777.4(SLC2A10):c.5-2A>G

SNV
Germline

Chr20:46725039

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA409266063

rs_770701918

1 SubmittersRCV001970627

NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala)

SNV
Germline

Chr20:46729394

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA9892223

rs_138245283

2 SubmittersRCV001983688 RCV004671597

NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter)

SNV
Germline

Chr20:46729365

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA409273084

rs_2123062030

1 SubmittersRCV001915414

NM_030777.4(SLC2A10):c.153G>A (p.Val51=)

SNV
Germline

Chr20:46725189

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Arterial tortuosity syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA510847422

rs_1367206658

3 SubmittersRCV002403136 RCV003095305 RCV006442797

NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)

SNV
Germline

Chr20:46709737

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome

Criteria Provided
Conflicting Classifications

CA409262051

rs_1355346296

2 SubmittersRCV002835072

NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)

SNV
Germline

Chr20:46726198

Conflicting classifications of pathogenicity

Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9892112

rs_374891798

3 SubmittersRCV002876845 RCV004823068 RCV004790259

NM_030777.4(SLC2A10):c.1289-2A>G

SNV
Germline

Chr20:46726862

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA409271591

rs_2515594540

1 SubmittersRCV003027738

NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)

SNV
Germline

Chr20:46725935

Pathogenic/Likely pathogenic

Arterial tortuosity syndrome
Familial aortopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA9892065

rs_771702107

3 SubmittersRCV003334359 RCV004701025

NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)

SNV
Unknown

Chr20:46725104

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

CA409266281

rs_1979801533

1 SubmittersRCV003313765

NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)

SNV
Germline

Chr20:46709737

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Arterial tortuosity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004672470 RCV005023620

NM_030777.4(SLC2A10):c.1446C>A (p.Tyr482Ter)

SNV
Germline

Chr20:46729387

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005204021

NM_030777.4(SLC2A10):c.1A>C (p.Met1Leu)

SNV
Germline

Chr20:46709737

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005206605

NM_030777.4(SLC2A10):c.4+5G>A

SNV
Germline

Chr20:46709745

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005638366

NM_030777.4(SLC2A10):c.453T>A (p.Tyr151Ter)

SNV
Germline

Chr20:46725489

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006524204

NM_030777.4(SLC2A10):c.912T>G (p.Cys304Trp)

SNV
Germline

Chr20:46725948

Pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006581280

NM_030777.4(SLC2A10):c.68G>A (p.Gly23Asp)

SNV
Germline

Chr20:46725104

Likely pathogenic

Arterial tortuosity syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006619325