Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)	SNV Germline	Chr3:30688511	Pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA020701	rs_121918715	2 SubmittersRCV000013327
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)	SNV Germline	Chr3:30672106	Pathogenic	Loeys-Dietz syndrome 2	No Assertion Criteria Provided	CA020791	rs_28934568	1 SubmittersRCV000013329
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)	SNV Germline	Chr3:30674196	Pathogenic	Loeys-Dietz syndrome 2	No Assertion Criteria Provided	CA020657	rs_104893807	1 SubmittersRCV000013330
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	SNV Germline	Chr3:30691504	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome 2 Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA020742	rs_104893809	8 SubmittersRCV000013331 RCV000196289 RCV000529794
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)	SNV Germline	Chr3:30672189	Pathogenic	Loeys-Dietz syndrome 2	No Assertion Criteria Provided	CA020575	rs_104893812	1 SubmittersRCV000013332
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)	SNV Germline	Chr3:30672246	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Loeys-Dietz syndrome Colorectal cancer, hereditary nonpolyposis, type 6 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA020590	rs_104893813	4 SubmittersRCV000013333 RCV001193761 RCV001253567 RCV001851822
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)	SNV Germline	Chr3:30672252	Pathogenic	Loeys-Dietz syndrome 2	No Assertion Criteria Provided	CA020598	rs_104893814	1 SubmittersRCV000013334
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)	SNV Germline/somatic	Chr3:30691478	Pathogenic	Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Condition: not provided Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Adenocarcinoma of the large intestine	Criteria Provided Multiple Submitters No Conflicts	CA020730	rs_104893815	7 SubmittersRCV000013335 RCV000013336 RCV000200178 RCV000211858 RCV000654809 RCV006253510
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	SNV Germline/somatic	Chr3:30691477	Pathogenic	Loeys-Dietz syndrome 2 Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome TGFBR2-related disorder Neoplasm Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA020726	rs_104893810	11 SubmittersRCV000013337 RCV000197944 RCV000691207 RCV000825631 RCV003904831 RCV004668719 RCV005628227
NM_003242.6(TGFBR2):c.95-2A>G	SNV Germline	Chr3:30644745	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm Condition: not provided	Criteria Provided Conflicting Classifications	CA050597	rs_779131465	8 SubmittersRCV000013338 RCV001183529 RCV001374778 RCV003221782
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)	SNV Germline	Chr3:30674228	Pathogenic	Loeys-Dietz syndrome 2 Cardiovascular phenotype Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA020661	rs_104893811	8 SubmittersRCV000013339 RCV000252297 RCV000199227 RCV000654788
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)	SNV Germline	Chr3:30674229	Pathogenic	Loeys-Dietz syndrome 2 Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA020664	rs_104893816	9 SubmittersRCV000013340 RCV000196002 RCV000702388
NM_003242.6(TGFBR2):c.1397-2A>G	SNV Germline	Chr3:30688382	Likely pathogenic	Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Single Submitter	CA020674	rs_587776770	2 SubmittersRCV000013341 RCV004700224
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)	SNV Germline	Chr3:30674123	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA020640	rs_104893817	4 SubmittersRCV000013342 RCV001325332
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)	SNV Germline	Chr3:30674130	Pathogenic	Loeys-Dietz syndrome 2	No Assertion Criteria Provided	CA020649	rs_104893818	1 SubmittersRCV000013343
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	SNV Germline	Chr3:30688470	Pathogenic	Loeys-Dietz syndrome 2 Loeys-Dietz syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA020690	rs_104893819	9 SubmittersRCV000013344 RCV000157519 RCV000195964 RCV000253575 RCV000763512 RCV005403719
NM_001032283.3(TMPO):c.565+2487C>T	SNV Germline	Chr12:98534325	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1T not specified Primary dilated cardiomyopathy Loeys-Dietz syndrome 2 Hypertrophic cardiomyopathy 25 Condition: not provided TMPO-related disorder	Criteria Provided Conflicting Classifications	CA134820	rs_17028450	11 SubmittersRCV000013544 RCV000037751 RCV000172599 RCV000231421 RCV001258228 RCV001810855 RCV003904834
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)	SNV Germline	Chr3:30650316	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA020765	rs_193922665	6 SubmittersRCV000030550 RCV001179055 RCV002223764 RCV003996147
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	SNV Germline	Chr3:30672342	Conflicting classifications of pathogenicity	not specified Congenital aneurysm of ascending aorta Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Marfan syndrome Thoracic aortic aneurysm Loeys-Dietz syndrome Thoracic aortic dissection Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Condition: not provided Ehlers-Danlos syndrome Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus TGFBR2-related disorder	Criteria Provided Conflicting Classifications	CA020617	rs_35766612	20 SubmittersRCV000037728 RCV000148893 RCV000249404 RCV000288248 RCV000345619 RCV000509502 RCV000768109 RCV001094865 RCV001703884 RCV002277125 RCV003224121 RCV003904922
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)	SNV Germline	Chr3:30671800	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA020780	rs_150022335	8 SubmittersRCV000037738 RCV000557588 RCV000766909 RCV003996329
NM_001032283.3(TMPO):c.565+2368G>A	SNV Germline	Chr12:98534206	Conflicting classifications of pathogenicity	not specified Condition: not provided Loeys-Dietz syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA134814	rs_138295270	5 SubmittersRCV000037749 RCV001703885 RCV001852787 RCV002310999
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	SNV Germline	Chr3:30674232	Likely pathogenic	Loeys-Dietz syndrome Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA020670	rs_587782979	3 SubmittersRCV000143955 RCV002283457 RCV004019758
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	SNV Germline	Chr3:30691552	Conflicting classifications of pathogenicity	Congenital aneurysm of ascending aorta not specified Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Marfan syndrome Condition: not provided Connective tissue disorder Loeys-Dietz syndrome 2 Ehlers-Danlos syndrome TGFBR2-related disorder	Criteria Provided Conflicting Classifications	CA020746	rs_112215250	19 SubmittersRCV000148891 RCV000152014 RCV000241715 RCV000239196 RCV000337404 RCV000587520 RCV000680614 RCV001094793 RCV002277295 RCV003935259
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)	SNV Germline	Chr3:30671647	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA020772	rs_727504406	7 SubmittersRCV000154587 RCV000777996 RCV002225455 RCV003998253
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)	SNV Germline	Chr3:30691475	Pathogenic/Likely pathogenic	not specified Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA020724	rs_727503476	6 SubmittersRCV000152012 RCV000588481 RCV001066818 RCV002274934 RCV005400706
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	SNV Germline	Chr3:30672250	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020594	rs_727504292	4 SubmittersRCV000154307 RCV000624184 RCV000805236 RCV003488403
NM_003242.6(TGFBR2):c.1524+1G>A	SNV Germline	Chr3:30688512	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA020696	rs_727503475	3 SubmittersRCV000152011 RCV002514933 RCV003335135
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)	SNV Germline	Chr3:30691486	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided TGFBR2-related disorder Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA020734	rs_727503477	7 SubmittersRCV000152013 RCV002399532 RCV002508195 RCV003415991 RCV003998231
NM_001032283.3(TMPO):c.565+1641A>G	SNV Germline	Chr12:98533479	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA181540	rs_143232629	4 SubmittersRCV000154857 RCV000852681 RCV001047321 RCV001589012
NM_001032283.3(TMPO):c.565+1848G>A	SNV Germline	Chr12:98533686	Conflicting classifications of pathogenicity	not specified Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA178237	rs_34301677	4 SubmittersRCV000152055 RCV000529930 RCV001570681
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	SNV Germline	Chr3:30691465	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA020712	rs_727504421	6 SubmittersRCV000157520 RCV000225734 RCV001042957 RCV000987137 RCV000995668
NM_001032283.3(TMPO):c.565+1485A>G	SNV Germline	Chr12:98533323	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA346716	rs_730880229	3 SubmittersRCV000157528 RCV000687239 RCV005761969
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)	SNV Germline	Chr12:98527964	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA237541	rs_200420073	2 SubmittersRCV000172123 RCV002515261
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)	SNV Germline	Chr12:98531830	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA237551	rs_200923649	4 SubmittersRCV000172125 RCV001088983 RCV006456778
NM_001032283.3(TMPO):c.565+1696C>T	SNV Germline	Chr12:98533534	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1T Amyloidosis Arrhythmogenic right ventricular cardiomyopathy Loeys-Dietz syndrome 2 TMPO-related disorder	Criteria Provided Conflicting Classifications	CA238435	rs_141443652	13 SubmittersRCV000172597 RCV000223911 RCV000578085 RCV000625188 RCV000852682 RCV001081032 RCV003937542
NM_001032283.3(TMPO):c.565+1186T>A	SNV Germline	Chr12:98533024	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified High myopia Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA308887	rs_146364154	4 SubmittersRCV000183956 RCV001049700 RCV004877658 RCV005863030
NM_001032283.3(TMPO):c.565+1617A>G	SNV Germline	Chr12:98533455	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA308896	rs_771185259	4 SubmittersRCV000183963 RCV000468616 RCV004020239
NM_003242.6(TGFBR2):c.94+16293C>A	SNV Germline	Chr3:30623270	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Malignant tumor of esophagus Familial thoracic aortic aneurysm and aortic dissection Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA050443	rs_138262219	5 SubmittersRCV000196914 RCV000765719 RCV001088557 RCV004020378
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)	SNV Germline	Chr3:30650373	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Diabetic retinopathy Loeys-Dietz syndrome 2 Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA048064	rs_768385200	10 SubmittersRCV000198358 RCV000253449 RCV000766907 RCV004020382 RCV003996930 RCV005863038
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)	SNV Germline	Chr3:30650418	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital aneurysm of ascending aorta Loeys-Dietz syndrome Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Malignant tumor of esophagus Loeys-Dietz syndrome 2 Diabetic retinopathy not specified	Criteria Provided Conflicting Classifications	CA320296	rs_863223838	8 SubmittersRCV000195915 RCV000471319 RCV000509415 RCV002478686 RCV003996927 RCV004020380 RCV004782300
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)	SNV Germline	Chr3:30671943	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Malignant tumor of esophagus Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA323430	rs_863223856	7 SubmittersRCV000198902 RCV000525396 RCV002478687 RCV004804817
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)	SNV Germline	Chr3:30672249	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA322326	rs_199660234	4 SubmittersRCV000197867 RCV001183813 RCV003996928
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg)	SNV Germline	Chr3:30672268	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA324658	rs_863223842	2 SubmittersRCV000200101 RCV003338459
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)	SNV Germline	Chr3:30672303	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA320627	rs_863223843	3 SubmittersRCV000196206 RCV003485557 RCV003996929
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	SNV Germline	Chr3:30688476	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Connective tissue disorder Loeys-Dietz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA323609	rs_863223852	8 SubmittersRCV000199072 RCV000244033 RCV000490801 RCV000680613 RCV001449740
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)	SNV Germline	Chr3:30688395	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA321611	rs_863224935	3 SubmittersRCV000197170 RCV002310796
NM_001032283.3(TMPO):c.565+2149C>T	SNV Germline	Chr12:98533987	Conflicting classifications of pathogenicity	not specified Loeys-Dietz syndrome 2 Condition: not provided TMPO-related disorder	Criteria Provided Conflicting Classifications	CA6732469	rs_34150443	5 SubmittersRCV000213669 RCV000645717 RCV001589137 RCV003929910
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)	SNV Germline	Chr3:30606887	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided Diabetic retinopathy Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA049102	rs_565502802	8 SubmittersRCV000234528 RCV001526891 RCV002259326 RCV004020797 RCV004804955
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)	SNV Germline	Chr3:30606952	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Condition: not provided TGFBR2-related disorder Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10582145	rs_878854612	8 SubmittersRCV000234500 RCV001149561 RCV001582774 RCV003937900 RCV004020798
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)	SNV Germline	Chr3:30644768	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA045863	rs_146277116	7 SubmittersRCV000227430 RCV000780774 RCV003332153 RCV002478859 RCV003998868 RCV004020796
NM_003242.6(TGFBR2):c.1254+8A>G	SNV Germline	Chr3:30672445	Conflicting classifications of pathogenicity	not specified Condition: not provided Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection Multiple congenital anomalies/dysmorphic syndrome	Criteria Provided Conflicting Classifications	CA10586858	rs_200630803	6 SubmittersRCV000251302 RCV000730508 RCV001149681 RCV001487458 RCV005625486
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn)	SNV Germline	Chr3:30672014	Pathogenic	Cardiovascular phenotype Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA10587565	rs_886038794	2 SubmittersRCV000244146 RCV002251451
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	SNV Germline	Chr3:30674186	Pathogenic/Likely pathogenic	Condition: not provided Loeys-Dietz syndrome 1 Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 TGFBR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10588355	rs_886039551	7 SubmittersRCV000255277 RCV000624602 RCV000692078 RCV002245988 RCV003401218
NM_003242.6(TGFBR2):c.1525-10C>G	SNV Germline	Chr3:30691410	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA10615561	rs_747069454	3 SubmittersRCV000329480 RCV000381883
NM_003242.6(TGFBR2):c.-307C>T	SNV Germline	Chr3:30606577	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Malignant tumor of esophagus Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10616068	rs_749340193	3 SubmittersRCV000262441 RCV002487511 RCV004021902
NM_003242.6(TGFBR2):c.-18C>A	SNV Germline	Chr3:30606866	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Diabetic retinopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10616073	rs_753369354	3 SubmittersRCV000314596 RCV004021909 RCV004694732
NM_003242.6(TGFBR2):c.*443A>G	SNV Germline	Chr3:30692042	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10618027	rs_188599299	2 SubmittersRCV000325930 RCV003430877
NM_003242.6(TGFBR2):c.*2066G>A	SNV Germline	Chr3:30693665	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10618058	rs_566913021	2 SubmittersRCV000339756 RCV003437094
NM_003242.6(TGFBR2):c.-371A>C	SNV Germline	Chr3:30606513	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Malignant tumor of esophagus Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10618389	rs_886058297	3 SubmittersRCV000393157 RCV002488745 RCV004021901
NM_001032283.3(TMPO):c.565+1213G>A	SNV Germline	Chr12:98533051	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6732287	rs_368211058	3 SubmittersRCV000461720 RCV000487398 RCV004021556
NM_001032283.3(TMPO):c.565+1390A>G	SNV Germline	Chr12:98533228	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732327	rs_780719278	3 SubmittersRCV000492839 RCV001850639 RCV004021557
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)	SNV Germline	Chr3:30672198	Conflicting classifications of pathogenicity	Lynch syndrome Loeys-Dietz syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Malignant tumor of esophagus Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Condition: not provided TGFBR2-related disorder	Criteria Provided Conflicting Classifications	CA045395	rs_761991787	10 SubmittersRCV000415648 RCV000415679 RCV000781901 RCV000809777 RCV000765723 RCV001310482 RCV003902462
NM_003242.6(TGFBR2):c.81C>T (p.His27=)	SNV Germline	Chr3:30606964	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA16604492	rs_1057520957	5 SubmittersRCV000418161 RCV002062387 RCV003996061 RCV004022335
NM_001032283.3(TMPO):c.565+1287A>G	SNV Germline	Chr12:98533125	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA6732304	rs_534940271	2 SubmittersRCV000442458 RCV001396124
NM_001032283.3(TMPO):c.565+2361G>T	SNV Germline	Chr12:98534199	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732517	rs_746160070	3 SubmittersRCV000419628 RCV001865331 RCV004022326
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)	SNV Germline	Chr3:30674231	Pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351809141	rs_1553630457	1 SubmittersRCV000499370
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)	SNV Germline	Chr3:30672309	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA045758	rs_755967723	6 SubmittersRCV000457732 RCV000765724 RCV001591087 RCV005404587
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)	SNV Germline	Chr3:30644867	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus Loeys-Dietz syndrome 2 not specified Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA16611209	rs_764941621	7 SubmittersRCV000472675 RCV002489048 RCV004000770 RCV003488611 RCV004022692
NM_003242.6(TGFBR2):c.95-3C>A	SNV Germline	Chr3:30644744	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus Diabetic retinopathy Malignant tumor of esophagus not specified	Criteria Provided Conflicting Classifications	CA050622	rs_375330013	9 SubmittersRCV000462907 RCV000497514 RCV002272243 RCV002489047 RCV004022691 RCV005899474 RCV006452651
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)	SNV Germline	Chr3:30672249	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection TGFBR2-related disorder Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA045560	rs_199660234	6 SubmittersRCV000489285 RCV001180612 RCV003409671 RCV004003420
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)	SNV Germline	Chr3:30672096	Pathogenic/Likely pathogenic	Condition: not provided Loeys-Dietz syndrome 2 Malignant tumor of esophagus Colorectal cancer, hereditary nonpolyposis, type 6 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA351808156	rs_1553630171	4 SubmittersRCV000519818 RCV000765721 RCV001857962
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)	SNV Germline	Chr3:30674109	Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA351808880	rs_1553630426	2 SubmittersRCV000550146 RCV004760596
NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)	SNV Germline	Chr3:30674229	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351809138	rs_104893816	3 SubmittersRCV000654802 RCV005870734 RCV005603648
NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg)	SNV Germline	Chr3:30644803	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Diabetic retinopathy Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351806411	rs_1559456531	3 SubmittersRCV000699100 RCV004026465 RCV004802381
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)	SNV Germline	Chr3:30672121	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Colorectal cancer, hereditary nonpolyposis, type 6 Loeys-Dietz syndrome 2 Malignant tumor of esophagus Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA050250	rs_200361387	7 SubmittersRCV000688154 RCV000765722 RCV000998013 RCV004004276 RCV003994082
NM_001032283.3(TMPO):c.565+2247C>T	SNV Germline	Chr12:98534085	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6732494	rs_369379490	3 SubmittersRCV000692559 RCV001771958 RCV004025121
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)	SNV Germline	Chr3:30671940	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351807803	rs_1559466824	4 SubmittersRCV000762369 RCV003528224 RCV004802414
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)	SNV Germline	Chr3:30671803	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus TGFBR2-related disorder Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA049422	rs_371209879	10 SubmittersRCV000772797 RCV001090472 RCV002265877 RCV002493409 RCV003413560 RCV003999987
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His)	SNV Germline	Chr3:30671854	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA049628	rs_112465572	9 SubmittersRCV000773801 RCV003226974 RCV004001329
NM_001032283.3(TMPO):c.565+1310G>C	SNV Germline	Chr12:98533148	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6732308	rs_779961791	3 SubmittersRCV000815281 RCV002462180 RCV004028846
NM_001032283.3(TMPO):c.565+2353A>G	SNV Germline	Chr12:98534191	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA386154250	rs_1335078305	2 SubmittersRCV000814935 RCV005762104
NM_001032283.3(TMPO):c.565+1968G>A	SNV Germline	Chr12:98533806	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA242225027	rs_1051007448	3 SubmittersRCV000852684 RCV002538868 RCV004029272
NM_003242.6(TGFBR2):c.95-10C>G	SNV Germline	Chr3:30644737	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA71499870	rs_952006496	3 SubmittersRCV000868768 RCV004003025 RCV004027737
NM_003242.6(TGFBR2):c.1142A>G (p.Lys381Arg)	SNV Germline	Chr3:30672325	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351808627	rs_1699358560	2 SubmittersRCV001071283 RCV005866792
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met)	SNV Germline	Chr3:30672405	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA045964	rs_770352403	3 SubmittersRCV001070194 RCV004000190
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)	SNV Germline	Chr12:98516031	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732118	rs_756232510	2 SubmittersRCV001044444 RCV004031360
NM_003242.6(TGFBR2):c.-122T>G	SNV Germline	Chr3:30606762	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA72289946	rs_1040386724	2 SubmittersRCV001148018 RCV004032757
NM_003242.5(TGFBR2):c.-388C>T	SNV Germline	Chr3:30606496	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA1139657937	rs_1697919506	2 SubmittersRCV001147134 RCV004000254
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)	SNV Germline	Chr3:30644755	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection not specified Diabetic retinopathy Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA71499877	rs_984098699	5 SubmittersRCV001180518 RCV003323805 RCV004033051 RCV004006665
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)	SNV Germline	Chr3:30644777	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA351806358	rs_1305653433	5 SubmittersRCV001178724 RCV004006498 RCV004033027
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)	SNV Germline	Chr3:30650283	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA047882	rs_766473954	4 SubmittersRCV001179241 RCV004006547 RCV004033032
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)	SNV Germline	Chr3:30671733	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351807344	rs_1371905176	3 SubmittersRCV001176862 RCV004006335
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe)	SNV Germline	Chr3:30671808	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2 TGFBR2-related disorder	Criteria Provided Conflicting Classifications	CA351807509	rs_1288771489	7 SubmittersRCV001186790 RCV001577216 RCV004008630 RCV004754699
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)	SNV Germline	Chr3:30671872	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified Loeys-Dietz syndrome 2 Loeys-Dietz syndrome	Criteria Provided Conflicting Classifications	CA049688	rs_150116445	6 SubmittersRCV001179173 RCV001551469 RCV001375501 RCV004006539 RCV005429050
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)	SNV Germline	Chr3:30671944	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA049848	rs_751948498	4 SubmittersRCV001178414 RCV004798891
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)	SNV Germline	Chr3:30672076	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA050066	rs_751587466	5 SubmittersRCV001180059 RCV004006619
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)	SNV Germline	Chr3:30672250	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA045577	rs_727504292	5 SubmittersRCV001178138 RCV001547687 RCV002259381
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)	SNV Germline	Chr12:98527924	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732167	rs_772509210	2 SubmittersRCV001208499 RCV004033730
NM_001032283.3(TMPO):c.565+1662T>G	SNV Germline	Chr12:98533500	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided Long QT syndrome not specified	Criteria Provided Conflicting Classifications	CA6732388	rs_200367787	4 SubmittersRCV001243793 RCV003393910 RCV003318398 RCV004034762
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)	SNV Germline	Chr3:30672351	Conflicting classifications of pathogenicity	Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351808682	rs_2125436704	5 SubmittersRCV001374780 RCV003528283 RCV004004931
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met)	SNV Germline	Chr3:30672196	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA71528567	rs_752866783	5 SubmittersRCV001532479 RCV001880147 RCV004004934
NM_001032283.3(TMPO):c.565+1782G>A	SNV Germline	Chr12:98533620	Conflicting classifications of pathogenicity	not specified Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA6732406	rs_763388598	3 SubmittersRCV001293596 RCV002538425
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala)	SNV Germline	Chr3:30650391	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA048140	rs_770216059	4 SubmittersRCV001308328 RCV004005051 RCV004034165
NM_001032283.3(TMPO):c.565+1033C>T	SNV Germline	Chr12:98532871	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732256	rs_747066370	2 SubmittersRCV001305489 RCV004036353
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)	SNV Germline	Chr3:30672317	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome 2 Malignant tumor of esophagus Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA351808609	rs_1575158079	3 SubmittersRCV001329672 RCV002246310 RCV002546347
NM_001032283.3(TMPO):c.565+2188C>T	SNV Germline	Chr12:98534026	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732480	rs_763238672	2 SubmittersRCV001345384 RCV004036457
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=)	SNV Germline	Chr3:30606937	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA049213	rs_139456857	4 SubmittersRCV001467621 RCV004007108
NM_001032283.3(TMPO):c.565+1468A>G	SNV Germline	Chr12:98533306	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA6732349	rs_202106275	2 SubmittersRCV001496123 RCV001751776
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)	SNV Germline	Chr3:30688477	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Colorectal cancer, hereditary nonpolyposis, type 6 Malignant tumor of esophagus Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA046720	rs_200958264	6 SubmittersRCV001568524 RCV003528315 RCV003883180 RCV004804226
NM_001032283.3(TMPO):c.565+2102C>G	SNV Germline	Chr12:98533940	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732462	rs_764177808	3 SubmittersRCV001582991 RCV001866108 RCV004039469
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)	SNV Unknown	Chr3:30672043	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351808030	rs_2125434732	1 SubmittersRCV001724739
NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser)	SNV Unknown	Chr3:30691477	Pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351809603	rs_104893810	1 SubmittersRCV001730017
NM_001032283.3(TMPO):c.565+2182T>C	SNV Germline	Chr12:98534020	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA6732478	rs_571417296	3 SubmittersRCV001758648 RCV001868504 RCV004040224
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)	SNV Germline	Chr3:30674228	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351809136	rs_104893811	1 SubmittersRCV001806344
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro)	SNV Germline	Chr3:30674229	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351809139	rs_104893816	2 SubmittersRCV001806345 RCV003163945
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg)	SNV Germline	Chr3:30672285	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351808541	rs_2125436184	1 SubmittersRCV001806417
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)	SNV Germline	Chr3:30672360	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351808700	rs_2125436754	3 SubmittersRCV001986598 RCV003485757
NM_001032283.3(TMPO):c.565+1584G>A	SNV Germline	Chr12:98533422	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 TMPO-related disorder not specified	Criteria Provided Conflicting Classifications	CA6732373	rs_147002330	3 SubmittersRCV002017848 RCV003408082 RCV006327423
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala)	SNV Germline	Chr3:30606974	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA050162	rs_761400349	6 SubmittersRCV001982374 RCV004010968 RCV004694038
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)	SNV Germline	Chr3:30671980	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Malignant tumor of esophagus Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6	Criteria Provided Conflicting Classifications	CA049908	rs_753184709	3 SubmittersRCV001937236 RCV002482527
NM_003242.6(TGFBR2):c.1305T>A (p.Asn435Lys)	SNV Germline	Chr3:30674155	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351808973	rs_2125438974	3 SubmittersRCV001957733 RCV005250217
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)	SNV Germline	Chr3:30672360	Likely pathogenic	Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA351808699	rs_2125436754	2 SubmittersRCV002227911 RCV006616605
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)	SNV Germline	Chr3:30674151	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA351808961	rs_1575158954	2 SubmittersRCV002251696 RCV005232922
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)	SNV Germline	Chr3:30674181	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351809034	rs_2125439099	1 SubmittersRCV002273347
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)	SNV Unknown	Chr3:30691457	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351809561	rs_2125455206	1 SubmittersRCV003153131
NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)	SNV Germline	Chr3:30674180	Pathogenic	Loeys-Dietz syndrome 2	No Assertion Criteria Provided	CA71530976	rs_758294183	1 SubmittersRCV003485898
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)	SNV Germline	Chr3:30672232	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351808441	rs_2470562867	2 SubmittersRCV003484526
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)	SNV Germline	Chr3:30644854	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Diabetic retinopathy Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA351806535	rs_1060501985	3 SubmittersRCV003643495 RCV004374368 RCV004005930
NM_003242.6(TGFBR2):c.1397-12C>A	SNV Germline	Chr3:30688372	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA2664867931	rs_2470595158	2 SubmittersRCV004014149 RCV006613236
NM_003242.6(TGFBR2):c.168G>A (p.Val56=)	SNV Germline	Chr3:30644820	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA432917322	rs_2470510112	3 SubmittersRCV004015339 RCV004823253
NM_003242.6(TGFBR2):c.1592C>A (p.Ala531Asp)	SNV Germline	Chr3:30691487	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter	CA351809620	rs_2125455358	1 SubmittersRCV004549026
NM_003242.6(TGFBR2):c.1070G>A (p.Gly357Glu)	SNV Germline	Chr3:30672253	Pathogenic	Condition: not provided Loeys-Dietz syndrome 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004767832 RCV006249924
NM_003242.6(TGFBR2):c.1069G>A (p.Gly357Arg)	SNV Germline	Chr3:30672252	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV004818875
NM_003242.6(TGFBR2):c.1583G>T (p.Arg528Leu)	SNV Germline	Chr3:30691478	Pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005001934
NM_001032283.3(TMPO):c.565+1899T>C	SNV Germline	Chr12:98533737	Conflicting classifications of pathogenicity	not specified Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV005294688 RCV006631327
NM_003242.6(TGFBR2):c.1291G>A (p.Glu431Lys)	SNV Unknown	Chr3:30674141	Pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005435963
NM_003242.6(TGFBR2):c.1336G>T (p.Asp446Tyr)	SNV Germline	Chr3:30674186	Likely pathogenic	Loeys-Dietz syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005882372

NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)

SNV
Germline

Chr3:30688511

Pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA020701

rs_121918715

2 SubmittersRCV000013327

NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)

SNV
Germline

Chr3:30672106

Pathogenic

Loeys-Dietz syndrome 2

No Assertion Criteria Provided

CA020791

rs_28934568

1 SubmittersRCV000013329

NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)

SNV
Germline

Chr3:30674196

Pathogenic

Loeys-Dietz syndrome 2

No Assertion Criteria Provided

CA020657

rs_104893807

1 SubmittersRCV000013330

NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)

SNV
Germline

Chr3:30691504

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome 2
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA020742

rs_104893809

8 SubmittersRCV000013331 RCV000196289 RCV000529794

NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)

SNV
Germline

Chr3:30672189

Pathogenic

Loeys-Dietz syndrome 2

No Assertion Criteria Provided

CA020575

rs_104893812

1 SubmittersRCV000013332

NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)

SNV
Germline

Chr3:30672246

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Loeys-Dietz syndrome
Colorectal cancer, hereditary nonpolyposis, type 6
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA020590

rs_104893813

4 SubmittersRCV000013333 RCV001193761 RCV001253567 RCV001851822

NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)

SNV
Germline

Chr3:30672252

Pathogenic

Loeys-Dietz syndrome 2

No Assertion Criteria Provided

CA020598

rs_104893814

1 SubmittersRCV000013334

NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)

SNV
Germline/somatic

Chr3:30691478

Pathogenic

Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Condition: not provided
Loeys-Dietz syndrome
Familial thoracic aortic aneurysm and aortic dissection
Adenocarcinoma of the large intestine

Criteria Provided
Multiple Submitters
No Conflicts

CA020730

rs_104893815

7 SubmittersRCV000013335 RCV000013336 RCV000200178 RCV000211858 RCV000654809 RCV006253510

NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)

SNV
Germline/somatic

Chr3:30691477

Pathogenic

Loeys-Dietz syndrome 2
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome
TGFBR2-related disorder
Neoplasm
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA020726

rs_104893810

11 SubmittersRCV000013337 RCV000197944 RCV000691207 RCV000825631 RCV003904831 RCV004668719 RCV005628227

NM_003242.6(TGFBR2):c.95-2A>G

SNV
Germline

Chr3:30644745

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050597

rs_779131465

8 SubmittersRCV000013338 RCV001183529 RCV001374778 RCV003221782

NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)

SNV
Germline

Chr3:30674228

Pathogenic

Loeys-Dietz syndrome 2
Cardiovascular phenotype
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA020661

rs_104893811

8 SubmittersRCV000013339 RCV000252297 RCV000199227 RCV000654788

NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)

SNV
Germline

Chr3:30674229

Pathogenic

Loeys-Dietz syndrome 2
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA020664

rs_104893816

9 SubmittersRCV000013340 RCV000196002 RCV000702388

NM_003242.6(TGFBR2):c.1397-2A>G

SNV
Germline

Chr3:30688382

Likely pathogenic

Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Single Submitter

CA020674

rs_587776770

2 SubmittersRCV000013341 RCV004700224

NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)

SNV
Germline

Chr3:30674123

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA020640

rs_104893817

4 SubmittersRCV000013342 RCV001325332

NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr3:30674130

Pathogenic

Loeys-Dietz syndrome 2

No Assertion Criteria Provided

CA020649

rs_104893818

1 SubmittersRCV000013343

NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)

SNV
Germline

Chr3:30688470

Pathogenic

Loeys-Dietz syndrome 2
Loeys-Dietz syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA020690

rs_104893819

9 SubmittersRCV000013344 RCV000157519 RCV000195964 RCV000253575 RCV000763512 RCV005403719

NM_001032283.3(TMPO):c.565+2487C>T

SNV
Germline

Chr12:98534325

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1T
not specified
Primary dilated cardiomyopathy
Loeys-Dietz syndrome 2
Hypertrophic cardiomyopathy 25
Condition: not provided
TMPO-related disorder

Criteria Provided
Conflicting Classifications

CA134820

rs_17028450

11 SubmittersRCV000013544 RCV000037751 RCV000172599 RCV000231421 RCV001258228 RCV001810855 RCV003904834

NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)

SNV
Germline

Chr3:30650316

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA020765

rs_193922665

6 SubmittersRCV000030550 RCV001179055 RCV002223764 RCV003996147

NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)

SNV
Germline

Chr3:30672342

Conflicting classifications of pathogenicity

not specified
Congenital aneurysm of ascending aorta
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome
Marfan syndrome
Thoracic aortic aneurysm
Loeys-Dietz syndrome
Thoracic aortic dissection
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Condition: not provided
Ehlers-Danlos syndrome
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA020617

rs_35766612

20 SubmittersRCV000037728 RCV000148893 RCV000249404 RCV000288248 RCV000345619 RCV000509502 RCV000768109 RCV001094865 RCV001703884 RCV002277125 RCV003224121 RCV003904922

NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)

SNV
Germline

Chr3:30671800

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA020780

rs_150022335

8 SubmittersRCV000037738 RCV000557588 RCV000766909 RCV003996329

NM_001032283.3(TMPO):c.565+2368G>A

SNV
Germline

Chr12:98534206

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Loeys-Dietz syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA134814

rs_138295270

5 SubmittersRCV000037749 RCV001703885 RCV001852787 RCV002310999

NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)

SNV
Germline

Chr3:30674232

Likely pathogenic

Loeys-Dietz syndrome
Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA020670

rs_587782979

3 SubmittersRCV000143955 RCV002283457 RCV004019758

NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)

SNV
Germline

Chr3:30691552

Conflicting classifications of pathogenicity

Congenital aneurysm of ascending aorta
not specified
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome
Marfan syndrome
Condition: not provided
Connective tissue disorder
Loeys-Dietz syndrome 2
Ehlers-Danlos syndrome
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA020746

rs_112215250

19 SubmittersRCV000148891 RCV000152014 RCV000241715 RCV000239196 RCV000337404 RCV000587520 RCV000680614 RCV001094793 RCV002277295 RCV003935259

NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)

SNV
Germline

Chr3:30671647

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA020772

rs_727504406

7 SubmittersRCV000154587 RCV000777996 RCV002225455 RCV003998253

NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)

SNV
Germline

Chr3:30691475

Pathogenic/Likely pathogenic

not specified
Loeys-Dietz syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020724

rs_727503476

6 SubmittersRCV000152012 RCV000588481 RCV001066818 RCV002274934 RCV005400706

NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)

SNV
Germline

Chr3:30672250

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome
Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020594

rs_727504292

4 SubmittersRCV000154307 RCV000624184 RCV000805236 RCV003488403

NM_003242.6(TGFBR2):c.1524+1G>A

SNV
Germline

Chr3:30688512

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA020696

rs_727503475

3 SubmittersRCV000152011 RCV002514933 RCV003335135

NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)

SNV
Germline

Chr3:30691486

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
TGFBR2-related disorder
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA020734

rs_727503477

7 SubmittersRCV000152013 RCV002399532 RCV002508195 RCV003415991 RCV003998231

NM_001032283.3(TMPO):c.565+1641A>G

SNV
Germline

Chr12:98533479

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181540

rs_143232629

4 SubmittersRCV000154857 RCV000852681 RCV001047321 RCV001589012

NM_001032283.3(TMPO):c.565+1848G>A

SNV
Germline

Chr12:98533686

Conflicting classifications of pathogenicity

not specified
Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178237

rs_34301677

4 SubmittersRCV000152055 RCV000529930 RCV001570681

NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)

SNV
Germline

Chr3:30691465

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020712

rs_727504421

6 SubmittersRCV000157520 RCV000225734 RCV001042957 RCV000987137 RCV000995668

NM_001032283.3(TMPO):c.565+1485A>G

SNV
Germline

Chr12:98533323

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA346716

rs_730880229

3 SubmittersRCV000157528 RCV000687239 RCV005761969

NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)

SNV
Germline

Chr12:98527964

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA237541

rs_200420073

2 SubmittersRCV000172123 RCV002515261

NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)

SNV
Germline

Chr12:98531830

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA237551

rs_200923649

4 SubmittersRCV000172125 RCV001088983 RCV006456778

NM_001032283.3(TMPO):c.565+1696C>T

SNV
Germline

Chr12:98533534

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1T
Amyloidosis
Arrhythmogenic right ventricular cardiomyopathy
Loeys-Dietz syndrome 2
TMPO-related disorder

Criteria Provided
Conflicting Classifications

CA238435

rs_141443652

13 SubmittersRCV000172597 RCV000223911 RCV000578085 RCV000625188 RCV000852682 RCV001081032 RCV003937542

NM_001032283.3(TMPO):c.565+1186T>A

SNV
Germline

Chr12:98533024

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified
High myopia
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA308887

rs_146364154

4 SubmittersRCV000183956 RCV001049700 RCV004877658 RCV005863030

NM_001032283.3(TMPO):c.565+1617A>G

SNV
Germline

Chr12:98533455

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA308896

rs_771185259

4 SubmittersRCV000183963 RCV000468616 RCV004020239

NM_003242.6(TGFBR2):c.94+16293C>A

SNV
Germline

Chr3:30623270

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Familial thoracic aortic aneurysm and aortic dissection
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA050443

rs_138262219

5 SubmittersRCV000196914 RCV000765719 RCV001088557 RCV004020378

NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)

SNV
Germline

Chr3:30650373

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Diabetic retinopathy
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA048064

rs_768385200

10 SubmittersRCV000198358 RCV000253449 RCV000766907 RCV004020382 RCV003996930 RCV005863038

NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)

SNV
Germline

Chr3:30650418

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital aneurysm of ascending aorta
Loeys-Dietz syndrome
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
Diabetic retinopathy
not specified

Criteria Provided
Conflicting Classifications

CA320296

rs_863223838

8 SubmittersRCV000195915 RCV000471319 RCV000509415 RCV002478686 RCV003996927 RCV004020380 RCV004782300

NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)

SNV
Germline

Chr3:30671943

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA323430

rs_863223856

7 SubmittersRCV000198902 RCV000525396 RCV002478687 RCV004804817

NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)

SNV
Germline

Chr3:30672249

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA322326

rs_199660234

4 SubmittersRCV000197867 RCV001183813 RCV003996928

NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg)

SNV
Germline

Chr3:30672268

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA324658

rs_863223842

2 SubmittersRCV000200101 RCV003338459

NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)

SNV
Germline

Chr3:30672303

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA320627

rs_863223843

3 SubmittersRCV000196206 RCV003485557 RCV003996929

NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)

SNV
Germline

Chr3:30688476

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Connective tissue disorder
Loeys-Dietz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA323609

rs_863223852

8 SubmittersRCV000199072 RCV000244033 RCV000490801 RCV000680613 RCV001449740

NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)

SNV
Germline

Chr3:30688395

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA321611

rs_863224935

3 SubmittersRCV000197170 RCV002310796

NM_001032283.3(TMPO):c.565+2149C>T

SNV
Germline

Chr12:98533987

Conflicting classifications of pathogenicity

not specified
Loeys-Dietz syndrome 2
Condition: not provided
TMPO-related disorder

Criteria Provided
Conflicting Classifications

CA6732469

rs_34150443

5 SubmittersRCV000213669 RCV000645717 RCV001589137 RCV003929910

NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)

SNV
Germline

Chr3:30606887

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided
Diabetic retinopathy
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA049102

rs_565502802

8 SubmittersRCV000234528 RCV001526891 RCV002259326 RCV004020797 RCV004804955

NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)

SNV
Germline

Chr3:30606952

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Condition: not provided
TGFBR2-related disorder
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA10582145

rs_878854612

8 SubmittersRCV000234500 RCV001149561 RCV001582774 RCV003937900 RCV004020798

NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)

SNV
Germline

Chr3:30644768

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA045863

rs_146277116

7 SubmittersRCV000227430 RCV000780774 RCV003332153 RCV002478859 RCV003998868 RCV004020796

NM_003242.6(TGFBR2):c.1254+8A>G

SNV
Germline

Chr3:30672445

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection
Multiple congenital anomalies/dysmorphic syndrome

Criteria Provided
Conflicting Classifications

CA10586858

rs_200630803

6 SubmittersRCV000251302 RCV000730508 RCV001149681 RCV001487458 RCV005625486

NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn)

SNV
Germline

Chr3:30672014

Pathogenic

Cardiovascular phenotype
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10587565

rs_886038794

2 SubmittersRCV000244146 RCV002251451

NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr3:30674186

Pathogenic/Likely pathogenic

Condition: not provided
Loeys-Dietz syndrome 1
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
TGFBR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10588355

rs_886039551

7 SubmittersRCV000255277 RCV000624602 RCV000692078 RCV002245988 RCV003401218

NM_003242.6(TGFBR2):c.1525-10C>G

SNV
Germline

Chr3:30691410

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA10615561

rs_747069454

3 SubmittersRCV000329480 RCV000381883

NM_003242.6(TGFBR2):c.-307C>T

SNV
Germline

Chr3:30606577

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Malignant tumor of esophagus
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA10616068

rs_749340193

3 SubmittersRCV000262441 RCV002487511 RCV004021902

NM_003242.6(TGFBR2):c.-18C>A

SNV
Germline

Chr3:30606866

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Diabetic retinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10616073

rs_753369354

3 SubmittersRCV000314596 RCV004021909 RCV004694732

NM_003242.6(TGFBR2):c.*443A>G

SNV
Germline

Chr3:30692042

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10618027

rs_188599299

2 SubmittersRCV000325930 RCV003430877

NM_003242.6(TGFBR2):c.*2066G>A

SNV
Germline

Chr3:30693665

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10618058

rs_566913021

2 SubmittersRCV000339756 RCV003437094

NM_003242.6(TGFBR2):c.-371A>C

SNV
Germline

Chr3:30606513

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA10618389

rs_886058297

3 SubmittersRCV000393157 RCV002488745 RCV004021901

NM_001032283.3(TMPO):c.565+1213G>A

SNV
Germline

Chr12:98533051

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6732287

rs_368211058

3 SubmittersRCV000461720 RCV000487398 RCV004021556

NM_001032283.3(TMPO):c.565+1390A>G

SNV
Germline

Chr12:98533228

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732327

rs_780719278

3 SubmittersRCV000492839 RCV001850639 RCV004021557

NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr3:30672198

Conflicting classifications of pathogenicity

Lynch syndrome
Loeys-Dietz syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Malignant tumor of esophagus
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Condition: not provided
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA045395

rs_761991787

10 SubmittersRCV000415648 RCV000415679 RCV000781901 RCV000809777 RCV000765723 RCV001310482 RCV003902462

NM_003242.6(TGFBR2):c.81C>T (p.His27=)

SNV
Germline

Chr3:30606964

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA16604492

rs_1057520957

5 SubmittersRCV000418161 RCV002062387 RCV003996061 RCV004022335

NM_001032283.3(TMPO):c.565+1287A>G

SNV
Germline

Chr12:98533125

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA6732304

rs_534940271

2 SubmittersRCV000442458 RCV001396124

NM_001032283.3(TMPO):c.565+2361G>T

SNV
Germline

Chr12:98534199

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732517

rs_746160070

3 SubmittersRCV000419628 RCV001865331 RCV004022326

NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)

SNV
Germline

Chr3:30674231

Pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351809141

rs_1553630457

1 SubmittersRCV000499370

NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)

SNV
Germline

Chr3:30672309

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA045758

rs_755967723

6 SubmittersRCV000457732 RCV000765724 RCV001591087 RCV005404587

NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)

SNV
Germline

Chr3:30644867

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
not specified
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA16611209

rs_764941621

7 SubmittersRCV000472675 RCV002489048 RCV004000770 RCV003488611 RCV004022692

NM_003242.6(TGFBR2):c.95-3C>A

SNV
Germline

Chr3:30644744

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Diabetic retinopathy
Malignant tumor of esophagus
not specified

Criteria Provided
Conflicting Classifications

CA050622

rs_375330013

9 SubmittersRCV000462907 RCV000497514 RCV002272243 RCV002489047 RCV004022691 RCV005899474 RCV006452651

NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)

SNV
Germline

Chr3:30672249

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
TGFBR2-related disorder
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA045560

rs_199660234

6 SubmittersRCV000489285 RCV001180612 RCV003409671 RCV004003420

NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)

SNV
Germline

Chr3:30672096

Pathogenic/Likely pathogenic

Condition: not provided
Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Colorectal cancer, hereditary nonpolyposis, type 6
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA351808156

rs_1553630171

4 SubmittersRCV000519818 RCV000765721 RCV001857962

NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)

SNV
Germline

Chr3:30674109

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA351808880

rs_1553630426

2 SubmittersRCV000550146 RCV004760596

NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)

SNV
Germline

Chr3:30674229

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351809138

rs_104893816

3 SubmittersRCV000654802 RCV005870734 RCV005603648

NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg)

SNV
Germline

Chr3:30644803

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Diabetic retinopathy
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351806411

rs_1559456531

3 SubmittersRCV000699100 RCV004026465 RCV004802381

NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)

SNV
Germline

Chr3:30672121

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA050250

rs_200361387

7 SubmittersRCV000688154 RCV000765722 RCV000998013 RCV004004276 RCV003994082

NM_001032283.3(TMPO):c.565+2247C>T

SNV
Germline

Chr12:98534085

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6732494

rs_369379490

3 SubmittersRCV000692559 RCV001771958 RCV004025121

NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)

SNV
Germline

Chr3:30671940

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351807803

rs_1559466824

4 SubmittersRCV000762369 RCV003528224 RCV004802414

NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr3:30671803

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
not specified
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
TGFBR2-related disorder
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA049422

rs_371209879

10 SubmittersRCV000772797 RCV001090472 RCV002265877 RCV002493409 RCV003413560 RCV003999987

NM_003242.6(TGFBR2):c.671G>A (p.Arg224His)

SNV
Germline

Chr3:30671854

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA049628

rs_112465572

9 SubmittersRCV000773801 RCV003226974 RCV004001329

NM_001032283.3(TMPO):c.565+1310G>C

SNV
Germline

Chr12:98533148

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6732308

rs_779961791

3 SubmittersRCV000815281 RCV002462180 RCV004028846

NM_001032283.3(TMPO):c.565+2353A>G

SNV
Germline

Chr12:98534191

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA386154250

rs_1335078305

2 SubmittersRCV000814935 RCV005762104

NM_001032283.3(TMPO):c.565+1968G>A

SNV
Germline

Chr12:98533806

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA242225027

rs_1051007448

3 SubmittersRCV000852684 RCV002538868 RCV004029272

NM_003242.6(TGFBR2):c.95-10C>G

SNV
Germline

Chr3:30644737

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA71499870

rs_952006496

3 SubmittersRCV000868768 RCV004003025 RCV004027737

NM_003242.6(TGFBR2):c.1142A>G (p.Lys381Arg)

SNV
Germline

Chr3:30672325

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351808627

rs_1699358560

2 SubmittersRCV001071283 RCV005866792

NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met)

SNV
Germline

Chr3:30672405

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA045964

rs_770352403

3 SubmittersRCV001070194 RCV004000190

NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)

SNV
Germline

Chr12:98516031

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732118

rs_756232510

2 SubmittersRCV001044444 RCV004031360

NM_003242.6(TGFBR2):c.-122T>G

SNV
Germline

Chr3:30606762

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA72289946

rs_1040386724

2 SubmittersRCV001148018 RCV004032757

NM_003242.5(TGFBR2):c.-388C>T

SNV
Germline

Chr3:30606496

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA1139657937

rs_1697919506

2 SubmittersRCV001147134 RCV004000254

NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)

SNV
Germline

Chr3:30644755

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Diabetic retinopathy
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA71499877

rs_984098699

5 SubmittersRCV001180518 RCV003323805 RCV004033051 RCV004006665

NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)

SNV
Germline

Chr3:30644777

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA351806358

rs_1305653433

5 SubmittersRCV001178724 RCV004006498 RCV004033027

NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)

SNV
Germline

Chr3:30650283

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA047882

rs_766473954

4 SubmittersRCV001179241 RCV004006547 RCV004033032

NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)

SNV
Germline

Chr3:30671733

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351807344

rs_1371905176

3 SubmittersRCV001176862 RCV004006335

NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe)

SNV
Germline

Chr3:30671808

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA351807509

rs_1288771489

7 SubmittersRCV001186790 RCV001577216 RCV004008630 RCV004754699

NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)

SNV
Germline

Chr3:30671872

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
not specified
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome

Criteria Provided
Conflicting Classifications

CA049688

rs_150116445

6 SubmittersRCV001179173 RCV001551469 RCV001375501 RCV004006539 RCV005429050

NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)

SNV
Germline

Chr3:30671944

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA049848

rs_751948498

4 SubmittersRCV001178414 RCV004798891

NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)

SNV
Germline

Chr3:30672076

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA050066

rs_751587466

5 SubmittersRCV001180059 RCV004006619

NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)

SNV
Germline

Chr3:30672250

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA045577

rs_727504292

5 SubmittersRCV001178138 RCV001547687 RCV002259381

NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)

SNV
Germline

Chr12:98527924

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732167

rs_772509210

2 SubmittersRCV001208499 RCV004033730

NM_001032283.3(TMPO):c.565+1662T>G

SNV
Germline

Chr12:98533500

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6732388

rs_200367787

4 SubmittersRCV001243793 RCV003393910 RCV003318398 RCV004034762

NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)

SNV
Germline

Chr3:30672351

Conflicting classifications of pathogenicity

Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351808682

rs_2125436704

5 SubmittersRCV001374780 RCV003528283 RCV004004931

NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met)

SNV
Germline

Chr3:30672196

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA71528567

rs_752866783

5 SubmittersRCV001532479 RCV001880147 RCV004004934

NM_001032283.3(TMPO):c.565+1782G>A

SNV
Germline

Chr12:98533620

Conflicting classifications of pathogenicity

not specified
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA6732406

rs_763388598

3 SubmittersRCV001293596 RCV002538425

NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala)

SNV
Germline

Chr3:30650391

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA048140

rs_770216059

4 SubmittersRCV001308328 RCV004005051 RCV004034165

NM_001032283.3(TMPO):c.565+1033C>T

SNV
Germline

Chr12:98532871

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732256

rs_747066370

2 SubmittersRCV001305489 RCV004036353

NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)

SNV
Germline

Chr3:30672317

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA351808609

rs_1575158079

3 SubmittersRCV001329672 RCV002246310 RCV002546347

NM_001032283.3(TMPO):c.565+2188C>T

SNV
Germline

Chr12:98534026

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732480

rs_763238672

2 SubmittersRCV001345384 RCV004036457

NM_003242.6(TGFBR2):c.54G>C (p.Thr18=)

SNV
Germline

Chr3:30606937

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA049213

rs_139456857

4 SubmittersRCV001467621 RCV004007108

NM_001032283.3(TMPO):c.565+1468A>G

SNV
Germline

Chr12:98533306

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6732349

rs_202106275

2 SubmittersRCV001496123 RCV001751776

NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)

SNV
Germline

Chr3:30688477

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA046720

rs_200958264

6 SubmittersRCV001568524 RCV003528315 RCV003883180 RCV004804226

NM_001032283.3(TMPO):c.565+2102C>G

SNV
Germline

Chr12:98533940

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732462

rs_764177808

3 SubmittersRCV001582991 RCV001866108 RCV004039469

NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)

SNV
Unknown

Chr3:30672043

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351808030

rs_2125434732

1 SubmittersRCV001724739

NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser)

SNV
Unknown

Chr3:30691477

Pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351809603

rs_104893810

1 SubmittersRCV001730017

NM_001032283.3(TMPO):c.565+2182T>C

SNV
Germline

Chr12:98534020

Conflicting classifications of pathogenicity

Condition: not provided
Loeys-Dietz syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA6732478

rs_571417296

3 SubmittersRCV001758648 RCV001868504 RCV004040224

NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)

SNV
Germline

Chr3:30674228

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351809136

rs_104893811

1 SubmittersRCV001806344

NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro)

SNV
Germline

Chr3:30674229

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351809139

rs_104893816

2 SubmittersRCV001806345 RCV003163945

NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg)

SNV
Germline

Chr3:30672285

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351808541

rs_2125436184

1 SubmittersRCV001806417

NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)

SNV
Germline

Chr3:30672360

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351808700

rs_2125436754

3 SubmittersRCV001986598 RCV003485757

NM_001032283.3(TMPO):c.565+1584G>A

SNV
Germline

Chr12:98533422

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
TMPO-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6732373

rs_147002330

3 SubmittersRCV002017848 RCV003408082 RCV006327423

NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala)

SNV
Germline

Chr3:30606974

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050162

rs_761400349

6 SubmittersRCV001982374 RCV004010968 RCV004694038

NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)

SNV
Germline

Chr3:30671980

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6

Criteria Provided
Conflicting Classifications

CA049908

rs_753184709

3 SubmittersRCV001937236 RCV002482527

NM_003242.6(TGFBR2):c.1305T>A (p.Asn435Lys)

SNV
Germline

Chr3:30674155

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351808973

rs_2125438974

3 SubmittersRCV001957733 RCV005250217

NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)

SNV
Germline

Chr3:30672360

Likely pathogenic

Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA351808699

rs_2125436754

2 SubmittersRCV002227911 RCV006616605

NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)

SNV
Germline

Chr3:30674151

Pathogenic/Likely pathogenic

Loeys-Dietz syndrome
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA351808961

rs_1575158954

2 SubmittersRCV002251696 RCV005232922

NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)

SNV
Germline

Chr3:30674181

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351809034

rs_2125439099

1 SubmittersRCV002273347

NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)

SNV
Unknown

Chr3:30691457

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351809561

rs_2125455206

1 SubmittersRCV003153131

NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)

SNV
Germline

Chr3:30674180

Pathogenic

Loeys-Dietz syndrome 2

No Assertion Criteria Provided

CA71530976

rs_758294183

1 SubmittersRCV003485898

NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)

SNV
Germline

Chr3:30672232

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351808441

rs_2470562867

2 SubmittersRCV003484526

NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)

SNV
Germline

Chr3:30644854

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Diabetic retinopathy
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

CA351806535

rs_1060501985

3 SubmittersRCV003643495 RCV004374368 RCV004005930

NM_003242.6(TGFBR2):c.1397-12C>A

SNV
Germline

Chr3:30688372

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA2664867931

rs_2470595158

2 SubmittersRCV004014149 RCV006613236

NM_003242.6(TGFBR2):c.168G>A (p.Val56=)

SNV
Germline

Chr3:30644820

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA432917322

rs_2470510112

3 SubmittersRCV004015339 RCV004823253

NM_003242.6(TGFBR2):c.1592C>A (p.Ala531Asp)

SNV
Germline

Chr3:30691487

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

CA351809620

rs_2125455358

1 SubmittersRCV004549026

NM_003242.6(TGFBR2):c.1070G>A (p.Gly357Glu)

SNV
Germline

Chr3:30672253

Pathogenic

Condition: not provided
Loeys-Dietz syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004767832 RCV006249924

NM_003242.6(TGFBR2):c.1069G>A (p.Gly357Arg)

SNV
Germline

Chr3:30672252

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004818875

NM_003242.6(TGFBR2):c.1583G>T (p.Arg528Leu)

SNV
Germline

Chr3:30691478

Pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005001934

NM_001032283.3(TMPO):c.565+1899T>C

SNV
Germline

Chr12:98533737

Conflicting classifications of pathogenicity

not specified
Loeys-Dietz syndrome 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005294688 RCV006631327

NM_003242.6(TGFBR2):c.1291G>A (p.Glu431Lys)

SNV
Unknown

Chr3:30674141

Pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005435963

NM_003242.6(TGFBR2):c.1336G>T (p.Asp446Tyr)

SNV
Germline

Chr3:30674186

Likely pathogenic

Loeys-Dietz syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005882372