Total 93 pathogenic variants reported for Arterial tortuosity syndrome 
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 SubmittersRCV000004847RCV001579411
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340266 rs_80358230

9 SubmittersRCV000004850RCV000498947RCV003914808
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 SubmittersRCV000004851RCV000199687RCV002371760
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

15 SubmittersRCV000004852RCV000616750RCV001558568
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

13 SubmittersRCV000128123RCV000228430RCV001171029RCV003436949
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) SNV
Germline		 Chr20:46729453 Conflicting classifications of pathogenicity not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA293554 rs_117587497

12 SubmittersRCV000128126RCV000227382RCV001171032RCV000756646
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 SubmittersRCV000128135RCV000394632RCV001798429RCV002510788
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) SNV
Germline		 Chr20:46725349 Pathogenic/Likely pathogenic Arterial tortuosity syndrome
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial aortopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA249014 rs_767864243

9 SubmittersRCV000202447RCV000202814RCV000997782RCV002310718RCV004526620
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

8 SubmittersRCV000202510RCV000248625RCV005416029RCV005431491
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 SubmittersRCV000195605RCV000202453RCV004019778
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 SubmittersRCV000185549RCV000251075
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

8 SubmittersRCV000202526RCV000997785RCV004782250RCV005492791
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 SubmittersRCV000202558RCV000492992RCV003380494
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 Arterial tortuosity syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA241805 rs_143301610

11 SubmittersRCV000319871RCV000199609RCV000770704RCV000724210
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 SubmittersRCV000178369RCV000724461RCV001087931RCV002310744
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

3 SubmittersRCV000585246RCV001853162RCV002321792
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) SNV
Germline		 Chr20:46725352 Conflicting classifications of pathogenicity Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified		 Criteria Provided
Conflicting Classifications
 CA320171 rs_6094438

6 SubmittersRCV000756648RCV000687656RCV002321791RCV003488452
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 SubmittersRCV000354340RCV001171026RCV001705118RCV003987443
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 SubmittersRCV000199476RCV001192939RCV002054312RCV002336533
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 SubmittersRCV000200110RCV001857723RCV002363010
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) SNV
Germline		 Chr20:46725801 Conflicting classifications of pathogenicity not specified
Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA320695 rs_142106322

13 SubmittersRCV000196275RCV000295195RCV001580088RCV000770706
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) SNV
Germline		 Chr20:46725816 Conflicting classifications of pathogenicity not specified
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA322946 rs_181500247

5 SubmittersRCV000198441RCV000644034RCV002408872RCV001726041
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) SNV
Germline		 Chr20:46725884 Conflicting classifications of pathogenicity Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA322287 rs_145994112

4 SubmittersRCV000197827RCV000685755RCV002315623
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 SubmittersRCV000196120RCV000340579RCV001171030RCV005237695
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) SNV
Germline		 Chr20:46726046 Conflicting classifications of pathogenicity Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Arterial tortuosity syndrome		 Criteria Provided
Conflicting Classifications
 CA322851 rs_150745395

6 SubmittersRCV000727007RCV001798662RCV000560592
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

5 SubmittersRCV000200540RCV000700242RCV002408873
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

4 SubmittersRCV000197301RCV000815839RCV001798663
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) SNV
Germline		 Chr20:46726945 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Condition: not provided
Aortic aneurysm, familial thoracic 2
Familial thoracic aortic aneurysm and aortic dissection
not specified		 Criteria Provided
Conflicting Classifications
 CA324057 rs_201393026

10 SubmittersRCV000356436RCV000766833RCV000581259RCV002311060RCV003114355
NM_030777.4(SLC2A10):c.1411+2T>A SNV
Germline		 Chr20:46726988 Likely pathogenic Condition: not provided
Arterial tortuosity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322146 rs_761721442

4 SubmittersRCV000197685RCV001781572
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 SubmittersRCV000198548RCV000477467RCV002315621
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
not specified
SLC2A10-related disorder		 Criteria Provided
Conflicting Classifications
 CA320576 rs_370141550

7 SubmittersRCV000196153RCV000800770RCV002315622RCV005055706RCV003417710
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) SNV
Germline		 Chr20:46725617 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA9892002 rs_763889166

4 SubmittersRCV000467385RCV001701834RCV002310987
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 SubmittersRCV000247481RCV003611506
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 SubmittersRCV001537350RCV000347203
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) SNV
Germline		 Chr20:46725366 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Condition: not provided
SLC2A10-related disorder
Familial thoracic aortic aneurysm and aortic dissection
not specified		 Criteria Provided
Conflicting Classifications
 CA9891956 rs_199848479

9 SubmittersRCV000260059RCV001705507RCV003932354RCV002314063RCV003330648
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) SNV
Germline		 Chr20:46726880 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified		 Criteria Provided
Conflicting Classifications
 CA9892163 rs_201159437

4 SubmittersRCV000297350RCV002379233RCV000437797
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

4 SubmittersRCV000275279RCV001718719RCV002314064
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 SubmittersRCV000326716RCV000611666RCV004822036
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) SNV
Germline		 Chr20:46725997 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9892078 rs_372596900

4 SubmittersRCV000475316RCV002374646RCV001703590
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 SubmittersRCV000421568RCV000808509RCV002313128
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) SNV
Germline		 Chr20:46725358 Conflicting classifications of pathogenicity Condition: not provided
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified		 Criteria Provided
Conflicting Classifications
 CA9891955 rs_373375540

9 SubmittersRCV000997783RCV000473304RCV002313174RCV003317220
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 SubmittersRCV000476482RCV003235236RCV005480373
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 SubmittersRCV000462576RCV001721532RCV003168905RCV004526684
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 SubmittersRCV000480486RCV001088256RCV003302717
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) SNV
Germline		 Chr20:46725684 Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection
Arterial tortuosity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA315755913 rs_1015798796

4 SubmittersRCV000606630RCV000559415
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 SubmittersRCV000867844RCV002315216RCV003917986
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.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 SubmittersRCV000705729RCV004822185
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) SNV
Germline		 Chr20:46726223 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA9892116 rs_755654519

2 SubmittersRCV000813485RCV001527009
NM_030777.4(SLC2A10):c.1288+2T>C SNV
Germline		 Chr20:46726326 Likely pathogenic Arterial tortuosity syndrome Criteria Provided
Single Submitter
 CA9892140 rs_768848335

1 SubmittersRCV000812297
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 SubmittersRCV002544568RCV003323764
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

4 SubmittersRCV001043347RCV001570651RCV002416356RCV005236554
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 SubmittersRCV001143186RCV002355124RCV001586003
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 SubmittersRCV001171028RCV001751300RCV001337721
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg) SNV
Germline		 Chr20:46729406 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Condition: not provided
Familial aortopathy		 Criteria Provided
Conflicting Classifications
 CA9892228 rs_201268555

3 SubmittersRCV001201870RCV005622074RCV004768906
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 SubmittersRCV001837619RCV002542811RCV005429359
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn) SNV
Germline		 Chr20:46725712 Conflicting classifications of pathogenicity Arterial tortuosity syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA9892023 rs_142402955

3 SubmittersRCV002015102RCV005242144RCV002361363
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys) SNV
Germline		 Chr20:46725763 Likely pathogenic Arterial tortuosity syndrome Criteria Provided
Single Submitter
 CA409267924 rs_1434246419

1 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 SubmittersRCV001983688RCV004671597
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		 Criteria Provided
Conflicting Classifications
 CA510847422 rs_1367206658

2 SubmittersRCV002403136RCV003095305
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 SubmittersRCV002876845RCV004823068RCV004790259
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 Familial aortopathy
Arterial tortuosity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9892065 rs_771702107

3 SubmittersRCV004701025RCV003334359
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 Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection
Arterial tortuosity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004672470RCV005023620
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