Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000138.5(FBN1):c.3410G>C (p.Arg1137Pro)	SNV Germline	Chr15:48487365	Pathogenic	Marfan syndrome, severe classic	No Assertion Criteria Provided	CA014076	rs_137854456	1 SubmittersRCV000017883
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser)	SNV Germline	Chr15:48428423	Pathogenic	Marfan syndrome, mild variable Marfan syndrome	No Assertion Criteria Provided	CA016845	rs_137854457	2 SubmittersRCV000017884 RCV000663912
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)	SNV Germline	Chr15:48411338	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA017671	rs_267606796	3 SubmittersRCV000017886 RCV001851898 RCV004821963
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)	SNV Germline	Chr15:48483910	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA014509	rs_137854458	2 SubmittersRCV000017887 RCV002345247
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg)	SNV Germline	Chr15:48463977	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA015538	rs_137854459	1 SubmittersRCV000017888
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser)	SNV Germline	Chr15:48432943	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA016633	rs_137854460	1 SubmittersRCV000017889
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)	SNV Germline	Chr15:48487425	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA013991	rs_137854470	2 SubmittersRCV000017890 RCV003764581
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)	SNV Germline	Chr15:48483931	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA014498	rs_137854471	5 SubmittersRCV000017891 RCV000812017
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)	SNV Germline	Chr15:48437362	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016342	rs_267606797	3 SubmittersRCV000017892 RCV000701293
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	SNV Germline	Chr15:48437026	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016451	rs_137854461	10 SubmittersRCV000017893 RCV000524502 RCV001170530 RCV001836710
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)	SNV Germline	Chr15:48510115	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012380	rs_137854462	3 SubmittersRCV000017894 RCV003764582
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)	SNV Germline	Chr15:48497391	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012833	rs_137854463	4 SubmittersRCV000017895 RCV002426510 RCV003764583
NM_000138.5(FBN1):c.6739+1G>C	SNV Germline	Chr15:48432865	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA392333153	rs_869025419	2 SubmittersRCV000017898
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	SNV Germline	Chr15:48425483	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017155	rs_137854464	9 SubmittersRCV002381253 RCV000422790 RCV000017899 RCV000417099 RCV000844887 RCV000695313
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)	SNV Germline	Chr15:48488230	Pathogenic	Neonatal Marfan syndrome	No Assertion Criteria Provided	CA013911	rs_137854465	1 SubmittersRCV000017900
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	SNV Germline	Chr15:48411280	Pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA017692	rs_137854466	12 SubmittersRCV000017901 RCV000181630 RCV000631918 RCV001374806 RCV002310993
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	SNV Germline	Chr15:48600217	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome, atypical Marfan syndrome not specified 8 conditions Aortic dissection Lens subluxation Arachnodactyly High palate	Criteria Provided Multiple Submitters No Conflicts	CA014381	rs_137854467	13 SubmittersRCV000181647 RCV001798007 RCV001201375 RCV000017902 RCV000029732 RCV001000178 RCV002496395 RCV000626614
NM_000138.5(FBN1):c.3965-2A>T	SNV Germline	Chr15:48474652	Pathogenic	Neonatal Marfan syndrome	No Assertion Criteria Provided	CA014647	rs_387906547	1 SubmittersRCV000017903
NM_000138.5(FBN1):c.4087+1G>A	SNV Germline	Chr15:48474527	Pathogenic	Neonatal Marfan syndrome Marfan syndrome	Criteria Provided Single Submitter	CA014744	rs_387906548	2 SubmittersRCV000017904 RCV000659538
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)	SNV Germline	Chr15:48487396	Conflicting classifications of pathogenicity	Marfan syndrome, mild Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA014015	rs_137854468	4 SubmittersRCV000017905 RCV000590660 RCV000631963
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)	SNV Germline	Chr15:48485418	Pathogenic	Marfan syndrome Cardiovascular phenotype	Criteria Provided Single Submitter	CA014399	rs_137854469	2 SubmittersRCV000017906 RCV000242083
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	SNV Germline	Chr15:48412619	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Acromicric dysplasia Weill-Marchesani syndrome Stiff skin syndrome Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA017597	rs_61746008	19 SubmittersRCV000029787 RCV000181628 RCV000243696 RCV000279856 RCV000306003 RCV000394448 RCV000337198 RCV000399653 RCV000586191 RCV001081571
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)	SNV Germline	Chr15:48488448	Conflicting classifications of pathogenicity	Neonatal Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA013794	rs_137854472	3 SubmittersRCV000017909 RCV002321486 RCV003764584
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr)	SNV Germline	Chr15:48487384	Pathogenic	Neonatal Marfan syndrome	No Assertion Criteria Provided	CA014044	rs_137854473	1 SubmittersRCV000017910
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)	SNV Germline	Chr15:48437347	Pathogenic	Marfan syndrome Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016359	rs_112989722	8 SubmittersRCV000017912 RCV000483725 RCV000589136 RCV000704427 RCV002310629
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg)	SNV Germline	Chr15:48483863	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA014552	rs_137854474	1 SubmittersRCV000017913
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)	SNV Germline	Chr15:48513552	Pathogenic	Marfan syndrome Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012291	rs_137854476	10 SubmittersRCV000017915 RCV000181685 RCV000586473 RCV000769652 RCV000999929 RCV000632013
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)	SNV Germline	Chr15:48489979	Likely pathogenic	Marfan syndrome, atypical Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA013595	rs_137854477	2 SubmittersRCV000017916 RCV002433459
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg)	SNV Germline	Chr15:48489896	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA013690	rs_140593	1 SubmittersRCV000017918
NM_000138.5(FBN1):c.5788+1G>A	SNV Germline	Chr15:48446705	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA392340994	rs_1555395819	1 SubmittersRCV000017919
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)	SNV Germline	Chr15:48488233	Pathogenic	Neonatal Marfan syndrome Condition: not provided Marfan syndrome Loeys-Dietz syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013900	rs_137854478	7 SubmittersRCV000017920 RCV000181482 RCV000227621 RCV000582993 RCV000684781 RCV002313714
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)	SNV Germline	Chr15:48497298	Pathogenic	Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012911	rs_137854479	4 SubmittersRCV000017923 RCV000587806 RCV003764585
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	SNV Germline	Chr15:48537629	Pathogenic/Likely pathogenic	Ectopia lentis 1, isolated, autosomal dominant Condition: not provided Marfan syndrome Familial ectopia lentis 8 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA017067	rs_137854480	13 SubmittersRCV000017925 RCV000181681 RCV000017924 RCV002307365 RCV000515367 RCV000631968 RCV001170326
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr)	SNV Germline	Chr15:48488481	Pathogenic	Neonatal Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA013783	rs_137854481	2 SubmittersRCV000017926 RCV000532010
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr)	SNV Germline	Chr15:48487389	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA014024	rs_137854482	2 SubmittersRCV000017927 RCV002514108
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr)	SNV Germline	Chr15:48485424	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA014391	rs_137854483	1 SubmittersRCV000030943
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr)	SNV Unknown	Chr15:48488193	Pathogenic	Neonatal Marfan syndrome	No Assertion Criteria Provided	CA013941	rs_137854484	1 SubmittersRCV000017929
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)	SNV Germline	Chr15:48515402	Pathogenic	Marfan syndrome, autosomal recessive not specified Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA012160	rs_137854485	7 SubmittersRCV000017930 RCV000150705 RCV000663457 RCV000809693 RCV002390114
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	SNV Germline	Chr7:94420276	Conflicting classifications of pathogenicity	Marfan syndrome, atypical not specified Connective tissue disorder Ehlers-danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Condition: not provided Postmenopausal osteoporosis Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA210743	rs_72658163	10 SubmittersRCV000018790 RCV000413739 RCV000680486 RCV001162671 RCV001162670 RCV001200183 RCV001330774 RCV002228038 RCV002415422
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)	SNV Germline	Chr15:48463210	Pathogenic	Geleophysic dysplasia 2 Acromicric dysplasia Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015621	rs_387906622	3 SubmittersRCV000022543 RCV000022544 RCV002513168
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)	SNV Germline	Chr15:48460258	Pathogenic	Geleophysic dysplasia 2 Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015740	rs_387906623	11 SubmittersRCV000022545 RCV004018662 RCV000255619 RCV001389174
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)	SNV Germline	Chr15:48463219	Pathogenic/Likely pathogenic	Geleophysic dysplasia 2 Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015611	rs_387906625	3 SubmittersRCV000022548 RCV003764623
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)	SNV Germline	Chr15:48463207	Pathogenic/Likely pathogenic	Acromicric dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015638	rs_387906626	6 SubmittersRCV000022550 RCV000494669 RCV001851997
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)	SNV Germline	Chr15:48510048	Pathogenic/Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012495	rs_193922183	2 SubmittersRCV000589677 RCV002399339
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)	SNV Germline	Chr15:48505037	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012686	rs_193922185	11 SubmittersRCV000029702 RCV000493360 RCV000507859 RCV000631908 RCV000763357 RCV001798013
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	SNV Germline	Chr15:48503845	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Stiff skin syndrome MASS syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012728	rs_140603	6 SubmittersRCV000029703 RCV000631929 RCV003330401
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)	SNV Germline	Chr15:48503843	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012756	rs_193922186	2 SubmittersRCV000029705 RCV004821965
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)	SNV Germline	Chr15:48496150	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA012976	rs_193922188	1 SubmittersRCV000029707
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)	SNV Germline	Chr15:48495575	Pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013041	rs_193921256	5 SubmittersRCV000493454 RCV000588833 RCV000663539 RCV002310635
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)	SNV Germline	Chr15:48495258	Conflicting classifications of pathogenicity	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA013202	rs_193922191	2 SubmittersRCV000029713 RCV002513248
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)	SNV Germline	Chr15:48610808	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013283	rs_112660651	1 SubmittersRCV000029715
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)	SNV Germline	Chr15:48495123	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013303	rs_193922193	1 SubmittersRCV000029716
NM_000138.5(FBN1):c.2855-1G>C	SNV Germline	Chr15:48490079	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013455	rs_112202622	2 SubmittersRCV000029718 RCV002433477
NM_000138.5(FBN1):c.2855-8T>C	SNV Germline	Chr15:48490086	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA013464	rs_193922195	4 SubmittersRCV000029719 RCV003764640 RCV003528138 RCV004532411
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)	SNV Germline	Chr15:48489907	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided 8 conditions MASS syndrome Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome 2, dominant Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome	Criteria Provided Conflicting Classifications	CA013673	rs_148076256	9 SubmittersRCV000541723 RCV000590133 RCV000777737 RCV001558963 RCV002477019 RCV003227610 RCV003996125
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)	SNV Germline	Chr15:48487186	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014194	rs_193922199	1 SubmittersRCV000029727
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)	SNV Germline	Chr15:48487104	Conflicting classifications of pathogenicity	Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Acromicric dysplasia Weill-Marchesani syndrome 8 conditions	Criteria Provided Conflicting Classifications	CA014274	rs_193922200	7 SubmittersRCV000029728 RCV000035176 RCV000631909 RCV001119599 RCV001119600 RCV001119601 RCV001119598 RCV001121593 RCV002477020
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)	SNV Germline	Chr15:48474300	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014826	rs_193922203	1 SubmittersRCV000029735
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)	SNV Germline	Chr15:48470652	Conflicting classifications of pathogenicity	Marfan syndrome not specified 8 conditions Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA015068	rs_61730054	15 SubmittersRCV000029736 RCV000035201 RCV000515317 RCV000724063 RCV001088381 RCV001176800 RCV004541020
NM_000138.5(FBN1):c.4460-8G>A	SNV Germline	Chr15:48468542	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015110	rs_193922204	11 SubmittersRCV000029737 RCV000429823 RCV000524498 RCV000507229 RCV002326689
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)	SNV Germline	Chr15:48468527	Pathogenic/Likely pathogenic	Marfan syndrome not specified Acute aortic dissection Congenital aneurysm of ascending aorta Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015124	rs_193922205	9 SubmittersRCV000029738 RCV000586485 RCV000755191 RCV000855643 RCV001046640 RCV001843461 RCV002326690
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)	SNV Germline	Chr15:48596367	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015186	rs_193922206	1 SubmittersRCV000029739
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	SNV Germline	Chr15:48468097	Pathogenic/Likely pathogenic	Marfan syndrome 8 conditions Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA015232	rs_111401431	18 SubmittersRCV000029740 RCV000515364 RCV000524499 RCV000724901 RCV002310994 RCV002265569 RCV004532413
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)	SNV Germline	Chr15:48468001	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015315	rs_193922207	1 SubmittersRCV000029741
NM_000138.5(FBN1):c.4747+5G>C	SNV Germline	Chr15:48467933	Conflicting classifications of pathogenicity	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA015404	rs_193922209	3 SubmittersRCV000029743 RCV000631976
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	SNV Germline	Chr15:48465820	Pathogenic	Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA015431	rs_113871094	15 SubmittersRCV000029744 RCV000181534 RCV000524501 RCV000515166 RCV001170767 RCV004799750
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)	SNV Germline	Chr15:48596311	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015657	rs_111671429	6 SubmittersRCV000029747 RCV000492866 RCV001221819
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)	SNV Germline	Chr15:48596311	Conflicting classifications of pathogenicity	Marfan syndrome not specified Geleophysic dysplasia Weill-Marchesani syndrome Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Acromicric dysplasia Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA015665	rs_111671429	15 SubmittersRCV000029748 RCV000035220 RCV000277063 RCV000307637 RCV000311281 RCV000368323 RCV000369297 RCV000393923 RCV000726148 RCV001083354
NM_000138.5(FBN1):c.5545+12C>T	SNV Germline	Chr15:48452550	Conflicting classifications of pathogenicity	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA015878	rs_193922213	2 SubmittersRCV000029751 RCV003764641
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)	SNV Germline	Chr15:48448887	Conflicting classifications of pathogenicity	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA015886	rs_193922214	2 SubmittersRCV000029752 RCV003764642
NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)	SNV Germline	Chr15:48537791	Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Single Submitter	CA015898	rs_193922215	1 SubmittersRCV003317046
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)	SNV Germline	Chr15:48448768	Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015930	rs_193922216	2 SubmittersRCV000029754 RCV001208967
NM_000138.5(FBN1):c.5672-3T>C	SNV Germline	Chr15:48446825	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA015937	rs_193922217	6 SubmittersRCV000029755 RCV000771199 RCV000864829 RCV003144113
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)	SNV Germline	Chr15:48644714	Conflicting classifications of pathogenicity	Marfan syndrome	Criteria Provided Conflicting Classifications	CA015969	rs_193922218	2 SubmittersRCV000029756
NM_000138.5(FBN1):c.5788+5G>T	SNV Germline	Chr15:48446701	Pathogenic/Likely pathogenic	Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA016073	rs_193922219	4 SubmittersRCV000029757 RCV004700286
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)	SNV Germline	Chr15:48437072	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016393	rs_193922223	1 SubmittersRCV000029762
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)	SNV Germline	Chr15:48537698	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016532	rs_193922224	1 SubmittersRCV000029763
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	SNV Germline	Chr15:48432905	Conflicting classifications of pathogenicity	Marfan syndrome not specified Ectopia lentis 1, isolated, autosomal dominant Geleophysic dysplasia Acromicric dysplasia Connective tissue disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA016669	rs_112084407	20 SubmittersRCV000029766 RCV000035252 RCV000270709 RCV000273547 RCV000310000 RCV000659568 RCV000726908 RCV000769627 RCV001081774 RCV004532415
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	SNV Germline	Chr15:48430736	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided 8 conditions Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016742	rs_193922228	11 SubmittersRCV000029769 RCV000255307 RCV000515227 RCV000586646 RCV000534047 RCV002310995
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)	SNV Germline	Chr15:48428373	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA016873	rs_148831709	7 SubmittersRCV000029771 RCV000769623 RCV002513250 RCV003234924 RCV001753430
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)	SNV Germline	Chr15:48427699	Conflicting classifications of pathogenicity	Marfan syndrome not specified Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA016976	rs_140537304	9 SubmittersRCV000029773 RCV000181589 RCV000757279 RCV001087538 RCV001183241 RCV004541022
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)	SNV Germline	Chr15:48425840	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017104	rs_193922230	1 SubmittersRCV000029774
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)	SNV Germline	Chr15:48425410	Conflicting classifications of pathogenicity	Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA017196	rs_193922233	7 SubmittersRCV000029777 RCV000181602 RCV000474840 RCV000766959 RCV002504828
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)	SNV Germline	Chr15:48421591	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA017323	rs_193922234	5 SubmittersRCV000029778 RCV000484503 RCV002313721 RCV001212859 RCV004528138
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	SNV Germline	Chr15:48420780	Pathogenic	Marfan syndrome Marfan syndrome, autosomal recessive Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections FBN1-related disorder	Reviewed By Expert Panel	CA017349	rs_147195031	11 SubmittersRCV000029780 RCV000083258 RCV000788741 RCV000539171 RCV001374808 RCV002399340 RCV003492302 RCV004532416
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)	SNV Germline	Chr15:48420700	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA017375	rs_193922236	4 SubmittersRCV000029781 RCV000181599 RCV002313722
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)	SNV Germline	Chr15:48415708	Pathogenic/Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017435	rs_193922239	3 SubmittersRCV000029784 RCV001378424 RCV003448903
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)	SNV Germline	Chr15:48415689	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017457	rs_193922240	1 SubmittersRCV000029785
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)	SNV Germline	Chr15:48415588	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions	Criteria Provided Conflicting Classifications	CA017493	rs_149062442	10 SubmittersRCV000522146 RCV000631962 RCV000767117 RCV001188432 RCV002288522 RCV002482916
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)	SNV Germline	Chr15:48411295	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017685	rs_193922244	6 SubmittersRCV000029792 RCV000252734 RCV000427863 RCV000777720 RCV001306947
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)	SNV Germline	Chr15:48644687	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome	Criteria Provided Conflicting Classifications	CA017720	rs_193922245	7 SubmittersRCV000181490 RCV000231311 RCV000763972 RCV001177079 RCV002281720 RCV003996127
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)	SNV Germline	Chr15:48411104	Conflicting classifications of pathogenicity	Marfan syndrome not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Geleophysic dysplasia Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Weill-Marchesani syndrome Ectopia lentis 1, isolated, autosomal dominant Condition: not provided FBN1-related disorder	Criteria Provided Conflicting Classifications	CA017797	rs_363847	16 SubmittersRCV000029795 RCV000154577 RCV000233059 RCV000270046 RCV000271998 RCV000251299 RCV000305317 RCV000386370 RCV000366578 RCV001727517 RCV004541023
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)	SNV Germline	Chr15:48490013	Pathogenic/Likely pathogenic	Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA013513	rs_397514558	11 SubmittersRCV000032871 RCV000172857 RCV000548224 RCV000726909 RCV001186221 RCV001192805
NM_000138.5(FBN1):c.8226+1G>T	SNV Germline	Chr15:48412568	Pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Progeroid and marfanoid aspect-lipodystrophy syndrome	Criteria Provided Single Submitter	CA017633	rs_398122833	2 SubmittersRCV001386016 RCV000033243
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr15:48520755	Pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA011893	rs_397515753	2 SubmittersRCV001387167 RCV000035113
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)	SNV Germline	Chr15:48516318	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA012019	rs_397515754	1 SubmittersRCV000035114
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)	SNV Germline	Chr15:48520711	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA011950	rs_397515755	1 SubmittersRCV000035115
NM_000138.5(FBN1):c.1148-2A>G	SNV Germline	Chr15:48516364	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA011982	rs_397515756	4 SubmittersRCV000480005 RCV000780240 RCV001852705 RCV000035116
NM_000138.5(FBN1):c.1468+5G>A	SNV Germline	Chr15:48515382	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA012192	rs_397515757	13 SubmittersRCV000035117 RCV000181432 RCV000251716 RCV000515263 RCV000631905 RCV003226174
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)	SNV Germline	Chr15:48513591	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012230	rs_113812345	9 SubmittersRCV000035118 RCV000524496 RCV000181420 RCV000506581 RCV002310640
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)	SNV Germline	Chr15:48510157	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012313	rs_397515759	2 SubmittersRCV001384755 RCV000035121
NM_000138.5(FBN1):c.164+5A>G	SNV Germline	Chr15:48644601	Conflicting classifications of pathogenicity	not specified 8 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012387	rs_397515760	4 SubmittersRCV000035122 RCV000763971 RCV000796432 RCV001178635
NM_000138.5(FBN1):c.165-7G>A	SNV Germline	Chr15:48613099	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome not specified	Criteria Provided Conflicting Classifications	CA012423	rs_397515761	4 SubmittersRCV001185754 RCV001494201 RCV003996183 RCV000035123
NM_000138.5(FBN1):c.1837+1G>T	SNV Germline	Chr15:48508581	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012573	rs_397515762	2 SubmittersRCV003764661 RCV000035126
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)	SNV Germline	Chr15:48505139	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome Connective tissue disorder Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012592	rs_397515764	9 SubmittersRCV000035128 RCV000459707 RCV000493016 RCV000663503 RCV002277117 RCV002307372 RCV002313726
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	SNV Germline	Chr15:48613073	Pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection 8 conditions Familial ectopia lentis	Criteria Provided Multiple Submitters No Conflicts	CA012607	rs_25403	11 SubmittersRCV000035129 RCV000493952 RCV000697256 RCV002313727 RCV002482953 RCV003114211
NM_000138.5(FBN1):c.185G>A (p.Arg62His)	SNV Germline	Chr15:48613072	Conflicting classifications of pathogenicity	Marfan syndrome Condition: not provided Congenital aneurysm of ascending aorta Acute aortic dissection not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012618	rs_145942328	12 SubmittersRCV000035130 RCV000757273 RCV000755193 RCV000781355 RCV000777703 RCV001046446
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)	SNV Germline	Chr15:48497384	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Geleophysic dysplasia Marfan syndrome Stiff skin syndrome Acromicric dysplasia Weill-Marchesani syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA012841	rs_140606	10 SubmittersRCV000035132 RCV000245903 RCV000278611 RCV000319536 RCV000292591 RCV000362638 RCV000373239 RCV000332480 RCV000556783 RCV000659516 RCV001531828
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)	SNV Germline	Chr15:48497317	Pathogenic/Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012895	rs_397515765	4 SubmittersRCV000587001 RCV001227932 RCV000035134
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)	SNV Germline	Chr15:48496178	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA012967	rs_397515766	4 SubmittersRCV000035135 RCV003162296 RCV002254906
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)	SNV Germline	Chr15:48613018	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012984	rs_397515767	4 SubmittersRCV002453294 RCV001852706 RCV000035136
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter)	SNV Germline	Chr15:48496112	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA012993	rs_397515768	1 SubmittersRCV000035137
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)	SNV Germline	Chr15:48495561	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013074	rs_397515770	1 SubmittersRCV000035139
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)	SNV Germline	Chr15:48495560	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013083	rs_397515771	1 SubmittersRCV000035140
NM_000138.5(FBN1):c.247+1G>A	SNV Germline	Chr15:48613009	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013099	rs_25404	7 SubmittersRCV000181642 RCV000526514 RCV000770680 RCV000035141
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)	SNV Germline	Chr15:48495520	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013135	rs_397515773	1 SubmittersRCV000035143
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)	SNV Germline	Chr15:48495519	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013145	rs_397515774	3 SubmittersRCV000697797 RCV002426546 RCV000035144
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)	SNV Germline	Chr15:48495513	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013156	rs_397515775	5 SubmittersRCV000035145 RCV000427032 RCV001215995
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)	SNV Germline	Chr15:48495512	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013163	rs_397515776	2 SubmittersRCV003764663 RCV000035146
NM_000138.5(FBN1):c.2855-1G>A	SNV Germline	Chr15:48490079	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013445	rs_112202622	1 SubmittersRCV000035152
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)	SNV Germline	Chr15:48490038	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Stiff skin syndrome Geleophysic dysplasia Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Acromicric dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA013504	rs_140591	12 SubmittersRCV000035154 RCV000227421 RCV000297968 RCV000314502 RCV000362108 RCV000310979 RCV000350683 RCV000356235 RCV000406637 RCV001311041
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)	SNV Germline	Chr15:48490006	Conflicting classifications of pathogenicity	not specified Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder FBN1-related disorder	Criteria Provided Conflicting Classifications	CA013533	rs_140954477	13 SubmittersRCV000035155 RCV000148497 RCV000528908 RCV000588311 RCV000777744 RCV002277119 RCV004737171
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)	SNV Germline	Chr15:48610775	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA013619	rs_397515782	1 SubmittersRCV000035157
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)	SNV Germline	Chr15:48489921	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013641	rs_397515784	6 SubmittersRCV000627218 RCV000610725 RCV001852707 RCV000035159
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr)	SNV Germline	Chr15:48488412	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013837	rs_397515786	7 SubmittersRCV000531789 RCV001564104 RCV000035163
NM_000138.5(FBN1):c.3337+1G>A	SNV Germline	Chr15:48488112	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013972	rs_397515789	4 SubmittersRCV003764664 RCV000035167
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)	SNV Germline	Chr15:48487383	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014058	rs_397515790	1 SubmittersRCV000035168
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)	SNV Germline	Chr15:48487362	Pathogenic/Likely pathogenic	Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014085	rs_397515791	2 SubmittersRCV000035169
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)	SNV Germline	Chr15:48487352	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Weill-Marchesani syndrome Marfan syndrome Acromicric dysplasia Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided FBN1-related disorder	Criteria Provided Conflicting Classifications	CA014108	rs_140396599	11 SubmittersRCV000035171 RCV000320608 RCV000269509 RCV000308253 RCV000314068 RCV000364769 RCV000371111 RCV000390665 RCV000632032 RCV001703451 RCV004541071
NM_000138.5(FBN1):c.3463+1G>T	SNV Germline	Chr15:48487311	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014135	rs_397515792	1 SubmittersRCV000035173
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)	SNV Germline	Chr15:48487150	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA014243	rs_200125037	8 SubmittersRCV000035175 RCV000587741 RCV000659527 RCV000631923 RCV001170779
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)	SNV Germline	Chr15:48487075	Likely pathogenic	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome	Reviewed By Expert Panel	CA014319	rs_397515793	5 SubmittersRCV000035177 RCV001798073 RCV002513351 RCV004577944 RCV004776270
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)	SNV Germline	Chr15:48600213	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA014457	rs_397515794	4 SubmittersRCV000035178 RCV002514148 RCV003224116 RCV004724760
NM_000138.5(FBN1):c.378A>G (p.Gly126=)	SNV Germline	Chr15:48600203	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome	Criteria Provided Conflicting Classifications	CA014543	rs_149611106	6 SubmittersRCV000035180 RCV000632036 RCV001188103 RCV001636618 RCV003996187
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)	SNV Germline	Chr15:48481771	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA014592	rs_397515796	2 SubmittersRCV001055721 RCV000035181
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)	SNV Germline	Chr15:48481733	Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014615	rs_397515797	3 SubmittersRCV000181498 RCV001852709 RCV000035182
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)	SNV Germline	Chr15:48474614	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions FBN1-related disorder	Criteria Provided Conflicting Classifications	CA014688	rs_191989961	10 SubmittersRCV000035184 RCV001036694 RCV001180858 RCV001839446 RCV002482954 RCV004528166
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)	SNV Germline	Chr15:48474599	Pathogenic/Likely pathogenic	Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014696	rs_397515798	2 SubmittersRCV000035185
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)	SNV Germline	Chr15:48474567	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014710	rs_397515799	1 SubmittersRCV000035186
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)	SNV Germline	Chr15:48474359	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified	Criteria Provided Conflicting Classifications	CA014768	rs_370923981	4 SubmittersRCV001343735 RCV003528139 RCV003996188 RCV000035187
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)	SNV Germline	Chr15:48474305	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014815	rs_397515801	1 SubmittersRCV000035189
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)	SNV Germline	Chr15:48472665	Pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Geleophysic dysplasia 2 Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014867	rs_397515802	7 SubmittersRCV000684806 RCV001582508 RCV002326721 RCV003483448 RCV000035190
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)	SNV Germline	Chr15:48472628	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014905	rs_397515804	5 SubmittersRCV000631934 RCV000035193
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	SNV Germline	Chr15:48472617	Conflicting classifications of pathogenicity	Marfan syndrome not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Congenital aneurysm of ascending aorta Acute aortic dissection 8 conditions Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Geleophysic dysplasia Acromicric dysplasia Ectopia lentis 1, isolated, autosomal dominant Weill-Marchesani syndrome	Criteria Provided Conflicting Classifications	CA014918	rs_201273753	17 SubmittersRCV000035194 RCV000161118 RCV000226865 RCV000586163 RCV000755199 RCV000765222 RCV000771903 RCV001121321 RCV001121322 RCV001121323 RCV001121324 RCV001116398
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	SNV Germline	Chr15:48472581	Conflicting classifications of pathogenicity	not specified 8 conditions Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Weill-Marchesani syndrome Acromicric dysplasia Stiff skin syndrome Geleophysic dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA014927	rs_377338217	10 SubmittersRCV000035195 RCV000515216 RCV000663715 RCV000536927 RCV000770669 RCV001119299 RCV001119300 RCV001119301 RCV001121320 RCV001121319 RCV001711363
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)	SNV Germline	Chr15:48470726	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015004	rs_397515805	3 SubmittersRCV000035196 RCV001170771
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)	SNV Germline	Chr15:48470756	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified	Criteria Provided Conflicting Classifications	CA014977	rs_397515806	5 SubmittersRCV000537855 RCV000770668 RCV001537866 RCV000035197
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)	SNV Germline	Chr15:48470726	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection See cases	Criteria Provided Multiple Submitters No Conflicts	CA015012	rs_397515805	3 SubmittersRCV000035199 RCV003485528 RCV004797771
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)	SNV Germline	Chr15:48470687	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA015037	rs_397515808	2 SubmittersRCV000035200 RCV000610340
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)	SNV Germline	Chr15:48468489	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015141	rs_397515810	3 SubmittersRCV000538495 RCV000035203
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)	SNV Germline	Chr15:48468463	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015175	rs_397515811	3 SubmittersRCV001213084 RCV004619194 RCV000035204
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)	SNV Germline	Chr15:48468427	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm	Criteria Provided Multiple Submitters No Conflicts	CA015204	rs_397515812	9 SubmittersRCV000035205 RCV000579083 RCV000539432 RCV000770665 RCV001374850
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)	SNV Germline	Chr15:48468070	Pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015241	rs_111231312	9 SubmittersRCV000035206 RCV000181528 RCV000524500 RCV002310641
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)	SNV Germline	Chr15:48465856	Conflicting classifications of pathogenicity	not specified 8 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA015412	rs_148888513	9 SubmittersRCV000035210 RCV000515425 RCV000632070 RCV000777948 RCV001374849 RCV001703452 RCV002277122
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)	SNV Germline	Chr15:48465825	Pathogenic/Likely pathogenic	Stiff skin syndrome Marfan syndrome Weill-Marchesani syndrome 2, dominant	Criteria Provided Multiple Submitters No Conflicts	CA015420	rs_267606798	3 SubmittersRCV000017937 RCV000035211 RCV003298043
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)	SNV Germline	Chr15:48465573	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA015476	rs_397515814	2 SubmittersRCV000035213 RCV000483918
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)	SNV Germline	Chr15:48596328	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015483	rs_113905529	7 SubmittersRCV000484323 RCV000810295 RCV001170329 RCV001374823 RCV000035214
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)	SNV Germline	Chr15:48465568	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015500	rs_397515816	4 SubmittersRCV002513353 RCV000035216
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)	SNV Germline	Chr15:48464009	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA015509	rs_397515817	4 SubmittersRCV000035217 RCV001222442 RCV004795951
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)	SNV Germline	Chr15:48596324	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015519	rs_397515818	1 SubmittersRCV000035218
NM_000138.5(FBN1):c.5066-1G>C	SNV Germline	Chr15:48463241	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015592	rs_397515819	1 SubmittersRCV000035219
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)	SNV Germline	Chr15:48460291	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015718	rs_397515820	1 SubmittersRCV000035221
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)	SNV Germline	Chr15:48596292	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015756	rs_363853	1 SubmittersRCV000035222
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)	SNV Germline	Chr15:48456691	Pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015774	rs_113249837	9 SubmittersRCV000035224 RCV000181541 RCV000684816 RCV002310642
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)	SNV Germline	Chr15:48452670	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015808	rs_397515821	3 SubmittersRCV001224439 RCV002345270 RCV000035225
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)	SNV Germline	Chr15:48452603	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015839	rs_111929350	4 SubmittersRCV000181545 RCV001384079 RCV000035227
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)	SNV Germline	Chr15:48452595	Likely pathogenic	Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015847	rs_397515823	4 SubmittersRCV000035228 RCV000588088 RCV001798075
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)	SNV Germline	Chr15:48446775	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015987	rs_397515824	3 SubmittersRCV001852711 RCV002470727
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)	SNV Germline	Chr15:48448851	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA015911	rs_113086760	2 SubmittersRCV001852712 RCV000035230
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)	SNV Germline	Chr15:48446773	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA015998	rs_397515826	1 SubmittersRCV000035232
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)	SNV Germline	Chr15:48446747	Likely pathogenic	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Reviewed By Expert Panel	CA016026	rs_397515827	4 SubmittersRCV000781368 RCV001852713 RCV000035233
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)	SNV Germline	Chr15:48445430	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016131	rs_363807	5 SubmittersRCV000181551 RCV001852714 RCV000035235
NM_000138.5(FBN1):c.5788+5G>A	SNV Germline	Chr15:48446701	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided 7 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection See cases FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016065	rs_193922219	19 SubmittersRCV000035236 RCV000181550 RCV000415118 RCV000684778 RCV000781375 RCV001170536 RCV002287351 RCV004534734
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)	SNV Germline	Chr15:48445453	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016110	rs_397515828	3 SubmittersRCV001384076 RCV000035237
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)	SNV Germline	Chr15:48445424	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016139	rs_397515829	3 SubmittersRCV000035238 RCV004821968
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)	SNV Germline	Chr15:48441765	Pathogenic/Likely pathogenic	Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016237	rs_397515830	2 SubmittersRCV000035239
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)	SNV Germline	Chr15:48437792	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016326	rs_397515831	1 SubmittersRCV000035240
NM_000138.5(FBN1):c.6379+1G>A	SNV Germline	Chr15:48437321	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016380	rs_397515833	3 SubmittersRCV001852715 RCV000035242
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)	SNV Germline	Chr15:48537704	Pathogenic	Marfan syndrome not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Progeroid and marfanoid aspect-lipodystrophy syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016459	rs_111687884	9 SubmittersRCV000035243 RCV000507433 RCV000627747 RCV001197886 RCV002223765 RCV002310643
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)	SNV Germline	Chr15:48437011	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA016465	rs_113080385	6 SubmittersRCV000631937 RCV000995545 RCV002313728
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)	SNV Germline	Chr15:48432975	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016590	rs_397515836	1 SubmittersRCV000035248
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	SNV Germline	Chr15:48432947	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016623	rs_113001196	11 SubmittersRCV000035250 RCV000181574 RCV000701161 RCV000999751 RCV001192803 RCV001374837 RCV004018736
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)	SNV Germline	Chr15:48432924	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Weill-Marchesani syndrome Marfan syndrome Geleophysic dysplasia Acromicric dysplasia Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA016640	rs_363824	15 SubmittersRCV000035251 RCV000252112 RCV000267077 RCV000322080 RCV000325710 RCV000376729 RCV000380286 RCV000337285 RCV000755265 RCV001082294
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)	SNV Germline	Chr15:48430701	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016768	rs_397515840	1 SubmittersRCV000035256
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)	SNV Germline	Chr15:48428423	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016837	rs_137854457	1 SubmittersRCV000035259
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)	SNV Germline	Chr15:48427677	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017000	rs_397515845	2 SubmittersRCV000035264
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)	SNV Germline	Chr15:48427603	Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017045	rs_397515847	3 SubmittersRCV000780247 RCV001050817 RCV000035266
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)	SNV Germline	Chr15:48427591	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA017052	rs_397515848	12 SubmittersRCV000035267 RCV000687004 RCV004782027 RCV000623939 RCV002371819
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)	SNV Germline	Chr15:48425476	Conflicting classifications of pathogenicity	not specified Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017165	rs_146166400	9 SubmittersRCV000035270 RCV000659578 RCV000756148 RCV000770658 RCV001078925
NM_000138.5(FBN1):c.7453+1G>T	SNV Germline	Chr15:48425368	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017211	rs_397515851	1 SubmittersRCV000035271
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)	SNV Germline	Chr15:48421677	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017263	rs_397515853	1 SubmittersRCV000035273
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)	SNV Germline	Chr15:48421651	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017296	rs_397515854	9 SubmittersRCV000181609 RCV000586498 RCV000698696 RCV002390140 RCV000035274
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)	SNV Germline	Chr15:48415735	Conflicting classifications of pathogenicity	Marfan syndrome not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017420	rs_141133182	14 SubmittersRCV000035279 RCV000154182 RCV000464816 RCV000765219 RCV001184743
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)	SNV Germline	Chr15:48415695	Pathogenic	not specified Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA017451	rs_111856492	4 SubmittersRCV000035281 RCV000663992 RCV002513354
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)	SNV Germline	Chr15:48415632	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017477	rs_397515859	3 SubmittersRCV000035283 RCV000181621
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)	SNV Germline	Chr15:48412724	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Acromicric dysplasia Geleophysic dysplasia Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017540	rs_145105768	8 SubmittersRCV000035284 RCV000181626 RCV000280634 RCV000284299 RCV000338124 RCV000372736 RCV000397502 RCV000400824 RCV001213083
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)	SNV Germline	Chr15:48411339	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017666	rs_397515861	1 SubmittersRCV000035287
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)	SNV Germline	Chr15:48411228	Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Reviewed By Expert Panel	CA017709	rs_397515863	4 SubmittersRCV000035289 RCV000631997 RCV000844629
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)	SNV Germline	Chr15:48411123	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017783	rs_397515864	1 SubmittersRCV000035291
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)	SNV Germline	Chr15:48411006	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA017835	rs_397515865	1 SubmittersRCV000035292
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 Thoracic aortic dissection Loeys-Dietz syndrome 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	18 SubmittersRCV000037728 RCV000148893 RCV000249404 RCV000288248 RCV000345619 RCV000509502 RCV000768109 RCV001094865 RCV001703884 RCV002277125 RCV003224121 RCV003904922
NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter)	SNV Not provided	Chr14:74551108	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA286515	rs_137854855	1 SubmittersRCV000114808
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly)	SNV Not provided	Chr15:48600196	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA014604	rs_199474693	1 SubmittersRCV000114817
NM_000138.5(FBN1):c.-176A>T	SNV Germline	Chr15:48644945	Conflicting classifications of pathogenicity	not specified Acromicric dysplasia Ectopia lentis 1, isolated, autosomal dominant Geleophysic dysplasia Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Weill-Marchesani syndrome Stiff skin syndrome	Criteria Provided Conflicting Classifications	CA012556	rs_560004254	2 SubmittersRCV000124992 RCV000268782 RCV000264869 RCV000300292 RCV000328495 RCV000324750 RCV000359548 RCV000360793
NM_000138.5(FBN1):c.3590-8T>C	SNV Germline	Chr15:48485504	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Stiff skin syndrome Weill-Marchesani syndrome Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Geleophysic dysplasia FBN1-related disorder	Criteria Provided Conflicting Classifications	CA014339	rs_140600	6 SubmittersRCV000125005 RCV000463524 RCV000777979 RCV001116603 RCV001116605 RCV001116600 RCV001116601 RCV001116602 RCV001116604 RCV004542938
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)	SNV Germline	Chr15:48513641	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012213	rs_587782944	4 SubmittersRCV000143890 RCV001201373
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)	SNV Germline	Chr15:48472574	Conflicting classifications of pathogenicity	Marfan syndrome Condition: not provided Geleophysic dysplasia MASS syndrome Weill-Marchesani syndrome Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Acromicric dysplasia Ectopia lentis Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA014944	rs_587782945	7 SubmittersRCV000143892 RCV000181517 RCV000381005 RCV000397810 RCV000298555 RCV000302074 RCV000405079 RCV000291329 RCV000346355 RCV000818523
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)	SNV Germline	Chr15:48446711	Pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA016047	rs_587782947	1 SubmittersRCV000143894
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)	SNV Germline	Chr15:48411085	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017803	rs_587782948	4 SubmittersRCV000143895 RCV002408641 RCV000627243
NM_017617.5(NOTCH1):c.3901+3G>A	SNV Germline	Chr9:136506713	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder Adams-Oliver syndrome 5 Condition: not provided Aortic valve disease 1	Criteria Provided Conflicting Classifications	CA345868	rs_373113999	7 SubmittersRCV000143940 RCV000143941 RCV000660160 RCV000864876 RCV001719910 RCV002269926
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)	SNV Germline	Chr3:30672168	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 1 Condition: not provided Marfan syndrome TGFBR2-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA020563	rs_148665451	9 SubmittersRCV000148892 RCV001704074 RCV000987136 RCV003905278 RCV000864105
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	SNV Germline	Chr3:30691552	Conflicting classifications of pathogenicity	not specified Loeys-Dietz syndrome Ehlers-Danlos syndrome Condition: not provided Connective tissue disorder Congenital aneurysm of ascending aorta Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Loeys-Dietz syndrome 2 TGFBR2-related disorder	Criteria Provided Conflicting Classifications	CA020746	rs_112215250	16 SubmittersRCV000152014 RCV000239196 RCV002277295 RCV000587520 RCV000680614 RCV000148891 RCV000241715 RCV000337404 RCV001094793 RCV003935259
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)	SNV Germline	Chr15:48411112	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified	Criteria Provided Conflicting Classifications	CA017789	rs_376933421	5 SubmittersRCV000148490 RCV001189650 RCV003764895 RCV004782251
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)	SNV Germline	Chr15:48412714	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA017551	rs_371375126	6 SubmittersRCV000148495 RCV001804856 RCV001040428 RCV001582618
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)	SNV Germline	Chr15:48415741	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Acromicric dysplasia	Criteria Provided Conflicting Classifications	CA017414	rs_143677764	8 SubmittersRCV000552622 RCV001118561 RCV000148491 RCV000593778 RCV001118562 RCV004700472 RCV001118563 RCV001118564 RCV001118565 RCV001118566
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)	SNV Germline	Chr15:48421597	Conflicting classifications of pathogenicity	Marfan syndrome, incomplete Condition: not provided 8 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA017315	rs_369294972	8 SubmittersRCV000148496 RCV000181611 RCV002492541 RCV003998169 RCV001189181 RCV001315977
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)	SNV Germline	Chr15:48425443	Conflicting classifications of pathogenicity	Marfan syndrome not specified FBN1-related disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017173	rs_144189837	16 SubmittersRCV000148493 RCV000181600 RCV004532665 RCV000995332 RCV001190175 RCV000794919
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)	SNV Germline	Chr15:48425828	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Stiff skin syndrome Weill-Marchesani syndrome Condition: not provided Acromicric dysplasia Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant 8 conditions	Criteria Provided Conflicting Classifications	CA017125	rs_143863014	9 SubmittersRCV000148488 RCV000530970 RCV001117026 RCV001117027 RCV000995333 RCV001115602 RCV001115601 RCV001115603 RCV002483288
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)	SNV Germline	Chr15:48483859	Conflicting classifications of pathogenicity	Marfan syndrome Condition: not provided Congenital aneurysm of ascending aorta Acute aortic dissection Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA014562	rs_200283837	8 SubmittersRCV000148489 RCV000756134 RCV000755197 RCV001183242 RCV001218747
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)	SNV Germline	Chr15:48503844	Conflicting classifications of pathogenicity	Condition: not provided 8 conditions Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012746	rs_377621293	7 SubmittersRCV001588997 RCV002478411 RCV001177402 RCV000148498 RCV001209766
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)	SNV Germline	Chr15:48515510	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012090	rs_139058991	8 SubmittersRCV000148499 RCV000771785 RCV000455446 RCV003328558 RCV001071912
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)	SNV Germline	Chr15:48520779	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Ectopia lentis 1, isolated, autosomal dominant Weill-Marchesani syndrome Stiff skin syndrome not specified Condition: not provided Marfan syndrome Geleophysic dysplasia Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder	Criteria Provided Conflicting Classifications	CA011866	rs_146726731	13 SubmittersRCV000393542 RCV000284823 RCV000315057 RCV000364336 RCV000393539 RCV000181421 RCV000588674 RCV000148500 RCV000307377 RCV000463596 RCV000659507
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	SNV Germline	Chr15:48420752	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided 6 conditions 8 conditions Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Thoracic aortic aneurysm or dissection Connective tissue dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA017354	rs_727503054	28 SubmittersRCV000150696 RCV000181613 RCV000415147 RCV000515426 RCV000586322 RCV000766256 RCV000524504 RCV004782256 RCV003448975
NM_000138.5(FBN1):c.6997+4A>G	SNV Germline	Chr15:48428342	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA016901	rs_727503055	4 SubmittersRCV000150697 RCV000232266 RCV003362691 RCV004589641
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)	SNV Germline	Chr15:48437347	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA016350	rs_112989722	3 SubmittersRCV000156842 RCV000530465 RCV000781370
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)	SNV Germline	Chr15:48487118	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014263	rs_727504411	1 SubmittersRCV000154599
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	SNV Germline	Chr15:48489896	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013681	rs_140593	14 SubmittersRCV000154235 RCV000181476 RCV000631914 RCV002433672
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	SNV Germline	Chr15:48505106	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA012647	rs_727503057	14 SubmittersRCV000150704 RCV000524497 RCV001798467 RCV001526942 RCV001556720 RCV000767974
NM_000138.5(FBN1):c.247+10T>C	SNV Germline	Chr15:48613000	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Acromicric dysplasia Geleophysic dysplasia Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome	Criteria Provided Conflicting Classifications	CA013091	rs_367618012	5 SubmittersRCV000154719 RCV000470957 RCV001117304 RCV001117309 RCV001117306 RCV001117308 RCV001117305 RCV001117307 RCV001118929
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	SNV Germline	Chr15:48412715	Pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA017544	rs_200309328	10 SubmittersRCV000150695 RCV000181617 RCV000529472 RCV001002020 RCV001192914 RCV002415636
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	SNV Germline	Chr15:48421982	Pathogenic	not specified Marfan syndrome Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Isolated thoracic aortic aneurysm Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections FBN1-related disorder	Reviewed By Expert Panel	CA017250	rs_363811	14 SubmittersRCV000154717 RCV000208039 RCV000245416 RCV000470522 RCV000766960 RCV001374810 RCV002307411 RCV004534961
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)	SNV Germline	Chr15:48428457	Pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA016813	rs_727504410	1 SubmittersRCV000154597
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)	SNV Germline	Chr15:48434701	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016539	rs_363821	2 SubmittersRCV000150698 RCV002514897
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)	SNV Germline	Chr15:48444619	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA016185	rs_727504642	4 SubmittersRCV001269653 RCV002313003 RCV003998292
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)	SNV Germline	Chr15:48487075	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA014329	rs_397515793	1 SubmittersRCV000156031
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)	SNV Germline	Chr15:48487402	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA014004	rs_727505006	9 SubmittersRCV000156427 RCV000557569 RCV000578572 RCV000770676 RCV004724937
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)	SNV Germline	Chr15:48489991	Likely pathogenic	Marfan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA013576	rs_727505110	2 SubmittersRCV000156563 RCV004819995
NM_000138.5(FBN1):c.164+2T>C	SNV Germline	Chr15:48644604	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA012372	rs_727503058	1 SubmittersRCV000150706
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)	SNV Germline	Chr2:189039403	Conflicting classifications of pathogenicity	Marfan syndrome Ehlers-Danlos syndrome type 7A Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type, 1 Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA346259	rs_200325397	8 SubmittersRCV000157152 RCV000356709 RCV001139304 RCV002229381 RCV001569254 RCV002313005 RCV002277314
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	SNV Germline	Chr3:30691465	Pathogenic/Likely pathogenic	Loeys-Dietz syndrome Condition: not provided Loeys-Dietz syndrome 2 Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020712	rs_727504421	6 SubmittersRCV000157520 RCV000225734 RCV000995668 RCV001042957 RCV000987137
NM_000138.5(FBN1):c.6739+2T>A	SNV Germline	Chr15:48432864	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA016704	rs_730880107	2 SubmittersRCV000157234 RCV001850181
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)	SNV Germline	Chr15:48445432	Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016122	rs_730880104	3 SubmittersRCV000157231 RCV001850179
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)	SNV Germline	Chr15:48460262	Likely pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA015728	rs_730880103	1 SubmittersRCV000157230
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)	SNV Germline	Chr15:48468468	Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA015164	rs_730880102	4 SubmittersRCV000157229 RCV001376801 RCV003476877
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)	SNV Germline	Chr15:48470640	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA015083	rs_730880101	2 SubmittersRCV000157228 RCV000705056
NM_000138.5(FBN1):c.4210+1G>A	SNV Germline	Chr15:48474254	Pathogenic/Likely pathogenic	Marfan syndrome FBN1-related disorder Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014835	rs_730880106	5 SubmittersRCV000157233 RCV004535021 RCV001850180
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)	SNV Germline	Chr15:48488445	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA013806	rs_730880100	2 SubmittersRCV000157226 RCV002515046
NM_000138.5(FBN1):c.2113+2T>C	SNV Germline	Chr15:48503785	Likely pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA012783	rs_730880105	1 SubmittersRCV000157232
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	SNV Germline	Chr15:48510125	Pathogenic	Marfan syndrome Condition: not provided not specified Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA012342	rs_730880099	14 SubmittersRCV000157225 RCV000256026 RCV000507510 RCV000589881 RCV000631935 RCV000763358 RCV002313006 RCV003105802
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	SNV Germline	Chr15:48516225	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Progeroid and marfanoid aspect-lipodystrophy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012048	rs_112645512	12 SubmittersRCV000157224 RCV000312925 RCV000791401 RCV002310720 RCV002498777 RCV004586576 RCV004783755
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)	SNV Germline	Chr15:48610793	Likely pathogenic	Marfan syndrome	No Assertion Criteria Provided	CA013427	rs_730880098	1 SubmittersRCV000157223
NM_000138.5(FBN1):c.1A>G (p.Met1Val)	SNV Germline	Chr15:48644769	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA012702	rs_730880097	5 SubmittersRCV000157222 RCV002415683 RCV002516355 RCV004589649
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)	SNV Germline	Chr15:48513590	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided 8 conditions not specified Marfan syndrome	Criteria Provided Conflicting Classifications	CA044927	rs_775489067	8 SubmittersRCV000201287 RCV001186227 RCV001297613 RCV001561954 RCV002505229 RCV002228779 RCV003995647
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)	SNV Germline	Chr15:48490003	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions FBN1-related disorder Marfan syndrome	Criteria Provided Conflicting Classifications	CA013544	rs_199682686	9 SubmittersRCV000176520 RCV000230049 RCV001190471 RCV002478578 RCV004528938 RCV003995686
NM_000138.5(FBN1):c.3464-6C>T	SNV Germline	Chr15:48487206	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA014174	rs_375596551	7 SubmittersRCV000590251 RCV001184495 RCV001393044 RCV003995687
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)	SNV Germline	Chr15:48467939	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA015400	rs_794727601	5 SubmittersRCV000177927 RCV000685344 RCV003996571 RCV004800317 RCV001185487
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)	SNV Germline	Chr15:48444614	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA016193	rs_113022801	6 SubmittersRCV000178682 RCV001176082 RCV001000130 RCV001079202 RCV003996575
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)	SNV Germline	Chr15:48437892	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA016282	rs_375624881	5 SubmittersRCV000179081 RCV002314654 RCV002516787 RCV003996576 RCV004737284
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)	SNV Germline	Chr15:48415623	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA017483	rs_202240409	9 SubmittersRCV000179634 RCV000724342 RCV001180301 RCV001475865 RCV003996583 RCV004737285
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)	SNV Germline	Chr15:48411055	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA017816	rs_371939796	5 SubmittersRCV000181637 RCV001178820 RCV001362745 RCV002485196 RCV003996701
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)	SNV Germline	Chr15:48411157	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017745	rs_148741353	5 SubmittersRCV000726402 RCV000801911 RCV004782290 RCV002408787
NM_000138.5(FBN1):c.8226+5G>A	SNV Germline	Chr15:48412564	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017638	rs_193922243	2 SubmittersRCV000631943 RCV001812167
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)	SNV Germline	Chr15:48412597	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA017608	rs_794728340	5 SubmittersRCV000181709 RCV001042367 RCV001181848 RCV003996706
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)	SNV Germline	Chr15:48412610	Conflicting classifications of pathogenicity	not specified Acromicric dysplasia Marfan syndrome Stiff skin syndrome Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Weill-Marchesani syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA017603	rs_370096856	8 SubmittersRCV000181412 RCV000291882 RCV000295523 RCV000267742 RCV000325046 RCV000352752 RCV000382017 RCV000387427 RCV000458019 RCV003390904
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	SNV Germline	Chr15:48415549	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA017529	rs_794728283	8 SubmittersRCV000181625 RCV000476927 RCV000659584 RCV000770651 RCV003987427
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys)	SNV Germline	Chr15:48415578	Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Single Submitter		rs_794728339	1 SubmittersRCV000691852
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)	SNV Germline	Chr15:48415582	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA017505	rs_794728281	3 SubmittersRCV000181623 RCV000553667 RCV002314685
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)	SNV Germline	Chr15:48415671	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017463	rs_794728280	9 SubmittersRCV000181620 RCV000586564 RCV000663995 RCV000770653 RCV002515309
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)	SNV Germline	Chr15:48415710	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA017429	rs_794728338	2 SubmittersRCV000505745 RCV000690617
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)	SNV Germline	Chr15:48415755	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA017404	rs_794728337	3 SubmittersRCV000181706 RCV001206976 RCV002408788
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)	SNV Germline	Chr15:48420731	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017362	rs_112118237	4 SubmittersRCV000181614 RCV002408786 RCV002517773 RCV004539703
NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)	SNV Germline	Chr15:48421633	Pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Single Submitter	CA017303	rs_794728276	1 SubmittersRCV000549612
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)	SNV Germline	Chr15:48421653	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555394210	2 SubmittersRCV000788330 RCV003765120
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)	SNV Germline	Chr15:48421659	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA017269	rs_111231879	6 SubmittersRCV000181606 RCV000659580 RCV000799932 RCV002390452 RCV003114329
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)	SNV Germline	Chr15:48421680	Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA017256	rs_794728336	5 SubmittersRCV000181705 RCV000631971 RCV001844074 RCV002314687 RCV003235103
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)	SNV Germline	Chr15:48421991	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017244	rs_794728272	5 SubmittersRCV000181605 RCV000470534 RCV000663960 RCV004539702
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)	SNV Germline	Chr15:48421993	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA017236	rs_767602851	4 SubmittersRCV000181604 RCV000536239 RCV003996698 RCV003993866
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)	SNV Germline	Chr15:48422023	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017230	rs_794728160	4 SubmittersRCV000181410 RCV000795593 RCV000989312
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter)	SNV Germline	Chr15:48425802	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017147	rs_794728271	2 SubmittersRCV000181598 RCV004017457
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)	SNV Germline	Chr15:48425816	Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017141	rs_794728270	3 SubmittersRCV000181597 RCV001379748 RCV004804787
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)	SNV Germline	Chr15:48425823	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA017132	rs_794728269	2 SubmittersRCV000181596 RCV003765119
NM_000138.5(FBN1):c.7205-1G>A	SNV Germline	Chr15:48425865	Pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017097	rs_794728266	3 SubmittersRCV000181593 RCV001328430 RCV001380006
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)	SNV Germline	Chr15:48427646	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017025	rs_794728265	2 SubmittersRCV000181592 RCV000631981
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)	SNV Germline	Chr15:48427660	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA017020	rs_794728264	2 SubmittersRCV000181591 RCV003765118
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)	SNV Germline	Chr15:48427720	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA016962	rs_746127796	9 SubmittersRCV000181588 RCV000659575 RCV000631985 RCV000766957 RCV001526099
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)	SNV Germline	Chr15:48427723	Conflicting classifications of pathogenicity	Condition: not provided Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA016952	rs_794728263	4 SubmittersRCV000181587 RCV000584375 RCV000469404 RCV003996695
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)	SNV Germline	Chr15:48427768	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel		rs_794728262	7 SubmittersRCV000663920 RCV000695545 RCV000781372 RCV003528148
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)	SNV Germline	Chr15:48428411	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA016860	rs_141868829	5 SubmittersRCV000181704 RCV000250909 RCV001183741 RCV003996705 RCV002516841
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)	SNV Germline	Chr15:48428426	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Marfan syndrome Connective tissue disorder	Criteria Provided Conflicting Classifications	CA016829	rs_770443276	10 SubmittersRCV000181583 RCV000772177 RCV000801637 RCV001262421 RCV001729433 RCV002277442
NM_000138.5(FBN1):c.6871+1G>T	SNV Germline	Chr15:48430670	Pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Single Submitter		rs_1555394753	1 SubmittersRCV001038927
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)	SNV Germline	Chr15:48430790	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016730	rs_794728256	2 SubmittersRCV000181579 RCV001378652
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)	SNV Germline	Chr15:48432908	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA016658	rs_794728255	5 SubmittersRCV000181576 RCV000663893 RCV000801586 RCV002362929
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)	SNV Germline	Chr15:48432955	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016598	rs_794728254	2 SubmittersRCV000181573 RCV001069452
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)	SNV Germline	Chr15:48434711	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA016525	rs_373510719	2 SubmittersRCV000181702 RCV001062234
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)	SNV Germline	Chr15:48436961	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA016504	rs_794728252	5 SubmittersRCV000181570 RCV000663875 RCV003352796 RCV003765116
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)	SNV Germline	Chr15:48437004	Pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA016495	rs_794728251	8 SubmittersRCV000505798 RCV000576722 RCV000631984
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu)	SNV Germline	Chr15:48437008	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA016480	rs_794728250	4 SubmittersRCV000181568 RCV000796054 RCV001181845 RCV004700548
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)	SNV Germline	Chr15:48437009	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA016472	rs_76702162	6 SubmittersRCV000589021 RCV001306630 RCV003243004 RCV004776278
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)	SNV Germline	Chr15:48437032	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016442	rs_794728335	5 SubmittersRCV000181699 RCV000663870 RCV001060030 RCV002362930
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)	SNV Germline	Chr15:48437039	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016435	rs_794728249	2 SubmittersRCV000181566 RCV000820661
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	SNV Germline	Chr15:48437069	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA016399	rs_794728334	13 SubmittersRCV000181698 RCV000659564 RCV000824568 RCV000768213 RCV001170531 RCV004528957 RCV004584366
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)	SNV Germline	Chr15:48437807	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016311	rs_794728246	2 SubmittersRCV000181562 RCV003227467
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)	SNV Germline	Chr15:48437912	Pathogenic	Condition: not provided Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016275	rs_763091520	8 SubmittersRCV000181559 RCV000245533 RCV000525187 RCV000663852 RCV000769629 RCV002509285 RCV004737289
NM_000138.5(FBN1):c.6164-3C>T	SNV Germline	Chr15:48437920	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA016268	rs_571365493	6 SubmittersRCV000181557 RCV000549219 RCV000777847 RCV001333241 RCV001704867
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)	SNV Germline	Chr15:48441832	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified FBN1-related disorder Marfan syndrome	Criteria Provided Conflicting Classifications	CA016223	rs_363802	8 SubmittersRCV000756138 RCV001078729 RCV001178611 RCV001526943 RCV004725031 RCV004799191
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)	SNV Germline	Chr15:48444553	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA016215	rs_773204216	7 SubmittersRCV000181697 RCV000557669 RCV001182484 RCV002492804 RCV003996704
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)	SNV Germline	Chr15:48444660	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA016172	rs_794728242	3 SubmittersRCV000181554 RCV001852282 RCV004619214
NM_000138.5(FBN1):c.5917+3A>G	SNV Germline	Chr15:48445373	Conflicting classifications of pathogenicity	not specified Geleophysic dysplasia Marfan syndrome Ectopia lentis Stiff skin syndrome Weill-Marchesani syndrome MASS syndrome Acromicric dysplasia Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA016165	rs_202158568	9 SubmittersRCV000181407 RCV000271534 RCV000270358 RCV000311237 RCV000322623 RCV000368202 RCV000328941 RCV000362544 RCV000389993 RCV000688484 RCV004737288
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr)	SNV Germline	Chr15:48445492	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016083	rs_794728240	2 SubmittersRCV000181552 RCV001230591
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)	SNV Germline	Chr15:48446768	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016007	rs_794728333	7 SubmittersRCV000181696 RCV000253306 RCV000803899 RCV000663811
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)	SNV Germline	Chr15:48446795	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015955	rs_794728237	4 SubmittersRCV000181547 RCV000556126 RCV000663808
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)	SNV Germline	Chr15:48452594	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA015860	rs_78970689	3 SubmittersRCV000181546 RCV000632002
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)	SNV Germline	Chr15:48452676	Pathogenic/Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015799	rs_761857514	6 SubmittersRCV000587722 RCV000663784 RCV000181543 RCV000468318 RCV002314682
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter)	SNV Germline	Chr15:48463098	Pathogenic	Condition: not provided Marfan syndrome	Criteria Provided Single Submitter	CA015708	rs_794728234	2 SubmittersRCV000181539 RCV000663767
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter)	SNV Germline	Chr15:48463209	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015630	rs_368979510	2 SubmittersRCV000181538 RCV000804754
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)	SNV Germline	Chr15:48465580	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015467	rs_140630	9 SubmittersRCV000181693 RCV000631940 RCV000663756 RCV000780237 RCV001374847 RCV002310748
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter)	SNV Germline	Chr15:48465622	Pathogenic	Condition: not provided Marfan syndrome	Criteria Provided Single Submitter	CA015448	rs_794728231	3 SubmittersRCV000181535 RCV000663751
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)	SNV Germline	Chr15:48467958	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided 8 conditions Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA015377	rs_776625874	11 SubmittersRCV000181531 RCV000226053 RCV000586729 RCV000765220 RCV000778032 RCV003996692 RCV004539701
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)	SNV Germline	Chr15:48468064	Pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA015252	rs_794728228	9 SubmittersRCV000181529 RCV000576659 RCV000462664 RCV000588838 RCV000770664
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)	SNV Germline	Chr15:48468474	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015156	rs_794728225	4 SubmittersRCV000181525 RCV002245986 RCV002282007 RCV002516838
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)	SNV Germline	Chr15:48468502	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA015134	rs_761187818	7 SubmittersRCV000181523 RCV000659544 RCV001178818 RCV001312619 RCV002485195 RCV003996689
NM_000138.5(FBN1):c.4460-9C>A	SNV Germline	Chr15:48468543	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA015115	rs_372753740	2 SubmittersRCV000181522 RCV002517772
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)	SNV Germline	Chr15:48470646	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome See cases	Criteria Provided Conflicting Classifications	CA015077	rs_794728223	4 SubmittersRCV000181521 RCV002326983 RCV003996688 RCV004584365
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)	SNV Germline	Chr15:48470656	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection not specified 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA015058	rs_370161725	7 SubmittersRCV000181520 RCV000465923 RCV001178817 RCV001192802 RCV002500530 RCV003996687
NM_000138.5(FBN1):c.4337-2A>G	SNV Germline	Chr15:48470758	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA014969	rs_794728216	3 SubmittersRCV000181506 RCV000659542 RCV002314681
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)	SNV Germline	Chr15:48472551	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014954	rs_794728221	4 SubmittersRCV000181518 RCV001852281 RCV002245985
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)	SNV Germline	Chr15:48474255	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA014849	rs_794728220	2 SubmittersRCV000181512 RCV001852280
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)	SNV Germline	Chr15:48474315	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA014788	rs_775543440	7 SubmittersRCV001170774 RCV001341819 RCV001704866 RCV002485194 RCV003996686
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)	SNV Germline	Chr15:48474369	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia 2	Criteria Provided Multiple Submitters No Conflicts	CA014760	rs_763449629	9 SubmittersRCV000181508 RCV000588449 RCV000663695 RCV000770671 RCV001224814 RCV004798800
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)	SNV Germline	Chr15:48474371	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA014752	rs_794728217	2 SubmittersRCV000181507 RCV001852279
NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter)	SNV Germline	Chr15:48474565	Pathogenic	Condition: not provided Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014724	rs_201058219	2 SubmittersRCV000181504 RCV004796072
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp)	SNV Germline	Chr15:48474640	Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Single Submitter		rs_1555397741	1 SubmittersRCV001377000
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)	SNV Germline	Chr15:48474641	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA014669	rs_794728331	3 SubmittersRCV000181692 RCV000659535 RCV000706621
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)	SNV Germline	Chr15:48483818	Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014572	rs_794728210	3 SubmittersRCV000181496 RCV001253501 RCV002516837
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	SNV Germline	Chr15:48485374	Pathogenic	Condition: not provided Marfan syndrome 8 conditions Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA014476	rs_794728208	14 SubmittersRCV000181493 RCV000659532 RCV000763355 RCV000808826 RCV001192801 RCV001176349
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)	SNV Germline	Chr15:48485490	Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014349	rs_794728206	3 SubmittersRCV000181491 RCV000818040 RCV002245984
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)	SNV Germline	Chr15:48487312	Pathogenic/Likely pathogenic	Condition: not provided Stiff skin syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA014157	rs_794728204	9 SubmittersRCV000181486 RCV003147379 RCV003333037 RCV000631998 RCV002460054 RCV000781378
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)	SNV Germline	Chr15:48487386	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA014034	rs_747189975	8 SubmittersRCV000181484 RCV000690524 RCV000781357 RCV001179626 RCV002277441 RCV002500529 RCV003996682
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)	SNV Germline	Chr15:48487431	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013984	rs_794728203	4 SubmittersRCV000254660 RCV001048335 RCV002310747
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val)	SNV Germline	Chr15:48488403	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013848	rs_794728202	2 SubmittersRCV000181480 RCV002517771
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)	SNV Germline	Chr15:48489913	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Marfan syndrome	Criteria Provided Conflicting Classifications	CA013662	rs_794728200	6 SubmittersRCV000181475 RCV001178816 RCV003235102 RCV003996681
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)	SNV Germline	Chr15:48489920	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA013651	rs_564713154	5 SubmittersRCV000181474 RCV001178815 RCV002516836 RCV003996680
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)	SNV Germline	Chr15:48489980	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013585	rs_794728199	7 SubmittersRCV000181473 RCV000586105 RCV000549578 RCV000663591 RCV001374767 RCV002310746
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)	SNV Germline	Chr15:48489999	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided FBN1-related disorder	Criteria Provided Conflicting Classifications	CA013568	rs_138438849	9 SubmittersRCV000659521 RCV001088772 RCV001183737 RCV001721134 RCV004537522
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)	SNV Germline	Chr15:48490007	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Isolated thoracic aortic aneurysm Marfan syndrome	Criteria Provided Conflicting Classifications	CA013523	rs_548296552	6 SubmittersRCV000181470 RCV001057247 RCV001192951 RCV001374768 RCV003996679
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)	SNV Germline	Chr15:48490072	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified	Criteria Provided Conflicting Classifications	CA013484	rs_112911555	7 SubmittersRCV000181469 RCV000208533 RCV001192095 RCV001205432 RCV001797666
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter)	SNV Germline	Chr15:48492509	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013419	rs_794728197	2 SubmittersRCV000181467 RCV001390347
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)	SNV Germline	Chr15:48492569	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA013401	rs_373644734	5 SubmittersRCV000181468 RCV000631996 RCV000780231 RCV003528145 RCV003996678
NM_000138.5(FBN1):c.2728+1G>C	SNV Germline	Chr15:48494203	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013392	rs_794728322	3 SubmittersRCV000181678 RCV000705129 RCV002426872
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	SNV Germline	Chr15:48495155	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Progeroid and marfanoid aspect-lipodystrophy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013258	rs_794728195	17 SubmittersRCV000181465 RCV000616479 RCV000663562 RCV000763356 RCV001001395 RCV000807820 RCV000780242 RCV001198804
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)	SNV Germline	Chr15:48495162	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA013249	rs_794728194	8 SubmittersRCV000556229 RCV000663561 RCV000769644 RCV001269745
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)	SNV Germline	Chr15:48495173	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013240	rs_794728193	3 SubmittersRCV000181463 RCV000663560 RCV001231222
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)	SNV Germline	Chr15:48495204	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA013230	rs_794728329	2 SubmittersRCV000181688 RCV002516840
NM_000138.5(FBN1):c.2539+1G>A	SNV Germline	Chr15:48495468	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013192	rs_794728192	2 SubmittersRCV000181462 RCV000631979
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)	SNV Germline	Chr15:48495574	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions not specified	Criteria Provided Conflicting Classifications	CA013064	rs_201778577	8 SubmittersRCV000181461 RCV000663541 RCV000778031 RCV001852278 RCV002503704 RCV003993865
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)	SNV Germline	Chr15:48496213	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012956	rs_794728190	4 SubmittersRCV000605926 RCV000663528 RCV001255466 RCV000631933
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)	SNV Germline	Chr15:48496216	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA012946	rs_794728189	2 SubmittersRCV000181458 RCV003765115
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)	SNV Germline	Chr15:48497332	Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA012886	rs_794728188	4 SubmittersRCV000181457 RCV002307435 RCV002277440 RCV001171255
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)	SNV Germline	Chr15:48497379	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555399381	3 SubmittersRCV000801677 RCV001268590 RCV004786496
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)	SNV Germline	Chr15:48499005	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome not specified	Criteria Provided Conflicting Classifications	CA012814	rs_794728185	5 SubmittersRCV000181453 RCV000536158 RCV000622454 RCV003323430
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro)	SNV Germline	Chr15:48503829	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA012772	rs_794728183	2 SubmittersRCV000181451 RCV000821004
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)	SNV Germline	Chr15:48508602	Pathogenic/Likely pathogenic	Condition: not provided Familial aortopathy Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012566	rs_794728176	3 SubmittersRCV000181442 RCV001201314 RCV004017456
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)	SNV Germline	Chr15:48508660	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555399968	3 SubmittersRCV001730582 RCV000695635 RCV003150972
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)	SNV Germline	Chr15:48508693	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012523	rs_794728174	2 SubmittersRCV000181440 RCV001379067
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)	SNV Germline	Chr15:48510064	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA012475	rs_763815231	3 SubmittersRCV000181439 RCV001063331 RCV001178814
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)	SNV Germline	Chr15:48510065	Pathogenic	not specified Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA012467	rs_113422242	8 SubmittersRCV000508191 RCV000663482 RCV001053575 RCV002310745 RCV000181438
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)	SNV Germline	Chr15:48510094	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012433	rs_794728172	2 SubmittersRCV000181437 RCV002516835
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)	SNV Germline	Chr15:48510169	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Marfan syndrome	Criteria Provided Conflicting Classifications	CA012303	rs_794728171	3 SubmittersRCV000533269 RCV000181436 RCV000663472
NM_000138.5(FBN1):c.1468+2T>C	SNV Germline	Chr15:48515385	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012180	rs_794728167	2 SubmittersRCV000181431 RCV002516834
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)	SNV Germline	Chr15:48515429	Pathogenic	Condition: not provided not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012151	rs_794728326	6 SubmittersRCV000181684 RCV000506419 RCV000476718 RCV000585953 RCV004017458
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)	SNV Germline	Chr15:48516224	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA012066	rs_368089138	5 SubmittersRCV000181427 RCV000697626 RCV001178813 RCV002500528 RCV003996674
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)	SNV Germline	Chr15:48516245	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA012036	rs_139968089	10 SubmittersRCV000590466 RCV000855644 RCV001079545 RCV001182507 RCV004737290
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)	SNV Germline	Chr15:48520659	Likely pathogenic	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA011960	rs_794728325	5 SubmittersRCV000181682 RCV000231553 RCV000791430 RCV002453647
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr15:48520716	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Isolated thoracic aortic aneurysm not specified Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Criteria Provided Multiple Submitters No Conflicts	CA011930	rs_794728165	16 SubmittersRCV000181424 RCV000602307 RCV000684777 RCV000457438 RCV001374819 RCV001000174 RCV001175536
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)	SNV Germline	Chr15:48526216	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Stiff skin syndrome Ectopia lentis 1, isolated, autosomal dominant Geleophysic dysplasia Weill-Marchesani syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA017847	rs_142888621	14 SubmittersRCV000181419 RCV000247580 RCV000289798 RCV000288772 RCV000377435 RCV000347117 RCV000407488 RCV000407491 RCV000461203 RCV000995347 RCV003224198
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	SNV Germline	Chr15:48537707	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA016423	rs_794728162	8 SubmittersRCV000460503 RCV000586274 RCV001269512 RCV000663867 RCV000766239
NM_000138.5(FBN1):c.353A>G (p.His118Arg)	SNV Germline	Chr15:48600228	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA014253	rs_765503809	6 SubmittersRCV000181646 RCV001236065 RCV001181847 RCV002492803 RCV003996702
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)	SNV Germline	Chr15:48610787	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome See cases Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Stiff skin syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA013493	rs_794728291	10 SubmittersRCV000181644 RCV000243821 RCV001190247 RCV002259318 RCV002252025 RCV001852286 RCV003991468 RCV004537526
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)	SNV Germline	Chr15:48610808	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA013275	rs_112660651	6 SubmittersRCV000181643 RCV000539344 RCV000663567 RCV002314686
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)	SNV Germline	Chr15:48613028	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome MASS syndrome Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions	Criteria Provided Conflicting Classifications	CA012938	rs_794728290	7 SubmittersRCV000181641 RCV000812218 RCV001535800 RCV002444730 RCV002466462 RCV002485197
NM_000138.5(FBN1):c.164+1G>A	SNV Germline	Chr15:48644605	Pathogenic/Likely pathogenic	Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012362	rs_794728213	6 SubmittersRCV000017897 RCV000181502 RCV001389970
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)	SNV Germline	Chr15:48644631	Conflicting classifications of pathogenicity	6 conditions Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA012118	rs_762400500	9 SubmittersRCV000414982 RCV000533830 RCV000726149 RCV001170559 RCV003996685
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 Marfan syndrome Loeys-Dietz syndrome Condition: not provided Loeys-Dietz syndrome 2 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA048064	rs_768385200	10 SubmittersRCV000198358 RCV000253449 RCV000380176 RCV000323333 RCV000766907 RCV003996930 RCV004020382
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr)	SNV Germline	Chr15:48427602	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA350431	rs_864622754	1 SubmittersRCV001378775
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly)	SNV Germline	Chr15:48448884	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA347974	rs_864622676	1 SubmittersRCV000203678
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)	SNV Germline	Chr2:189092414	Conflicting classifications of pathogenicity	Marfan syndrome Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type, 1 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA353678	rs_767252151	4 SubmittersRCV000208436 RCV001262877 RCV002229535 RCV002336576
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	SNV Germline	Chr9:136497534	Conflicting classifications of pathogenicity	Marfan syndrome Adams-Oliver syndrome 5 Condition: not provided Aortic valve disease 1 Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 Aortic valve disease 1 not specified	Criteria Provided Conflicting Classifications	CA353686	rs_567909904	8 SubmittersRCV000208466 RCV001060006 RCV001509385 RCV002270023 RCV002363043 RCV002500668 RCV003401116
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)	SNV Germline	Chr15:48411267	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA353635	rs_869025417	1 SubmittersRCV000208125
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	SNV Germline	Chr15:48412647	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA353671	rs_112642323	5 SubmittersRCV000208411 RCV002415877 RCV003128595 RCV003765345
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)	SNV Germline	Chr15:48420737	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA353648	rs_869025416	2 SubmittersRCV000208225 RCV001071006
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)	SNV Germline	Chr15:48425401	Likely pathogenic	Marfan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353668	rs_869025415	2 SubmittersRCV000208392 RCV005001018
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)	SNV Germline	Chr15:48427630	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA353645	rs_869025414	4 SubmittersRCV000208200 RCV000802453 RCV002363041
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)	SNV Germline	Chr15:48430677	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA353628	rs_869025413	1 SubmittersRCV000208020
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)	SNV Germline	Chr15:48430722	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided	Reviewed By Expert Panel	CA353663	rs_869025412	4 SubmittersRCV000208376 RCV002515543 RCV003144160
NM_000138.5(FBN1):c.6739+1G>A	SNV Germline	Chr15:48432865	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA353631	rs_869025419	2 SubmittersRCV000208077 RCV001056082
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)	SNV Germline	Chr15:48432911	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA353642	rs_869025411	2 SubmittersRCV000208180 RCV002363040
NM_000138.5(FBN1):c.5918-2A>G	SNV Germline	Chr15:48444662	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353677	rs_869025418	4 SubmittersRCV000208432 RCV000532804 RCV002354586 RCV004696873
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)	SNV Germline	Chr15:48465791	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA353639	rs_869025408	3 SubmittersRCV000208162 RCV001170766
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	SNV Germline	Chr15:48472557	Pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA353655	rs_869025406	3 SubmittersRCV000208295 RCV000818296
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)	SNV Germline	Chr15:48487093	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA051096	rs_370121450	5 SubmittersRCV000208111 RCV000799739 RCV000989326 RCV001184036
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)	SNV Germline	Chr15:48494237	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA353652	rs_869025405	2 SubmittersRCV000208274 RCV002426976
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)	SNV Germline	Chr15:48505076	Likely pathogenic	Marfan syndrome	Criteria Provided Single Submitter	CA353632	rs_869025404	1 SubmittersRCV000208087
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)	SNV Germline	Chr15:48610736	Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Reviewed By Expert Panel	CA353680	rs_869025403	3 SubmittersRCV000208445 RCV000534760
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)	SNV Germline	Chr15:48489890	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA049620	rs_55831697	7 SubmittersRCV000490387 RCV000777610 RCV001061450 RCV001844089 RCV004820001
NM_000138.5(FBN1):c.8226+1G>A	SNV Germline	Chr15:48412568	Pathogenic/Likely pathogenic	Progeroid and marfanoid aspect-lipodystrophy syndrome Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10576035	rs_398122833	5 SubmittersRCV000210934 RCV000664017 RCV000631959 RCV001566353
NM_000138.5(FBN1):c.6314-15G>A	SNV Germline	Chr15:48437402	Conflicting classifications of pathogenicity	not specified Weill-Marchesani syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Acromicric dysplasia Stiff skin syndrome Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA056545	rs_200841830	9 SubmittersRCV000216732 RCV000300200 RCV000276903 RCV000303614 RCV000343480 RCV000355096 RCV000398027 RCV000400917 RCV002054958 RCV004532755
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)	SNV Germline	Chr15:48513566	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA045042	rs_370575495	7 SubmittersRCV000216459 RCV001180053 RCV001296986 RCV002494568 RCV003997738
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)	SNV Germline	Chr15:48610775	Likely pathogenic	Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10576993	rs_397515782	2 SubmittersRCV000220364
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)	SNV Germline	Chr15:48412618	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA059722	rs_552157433	6 SubmittersRCV000226999 RCV000664015 RCV001189718 RCV002286724 RCV003235151
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)	SNV Germline	Chr15:48412646	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Stiff skin syndrome Geleophysic dysplasia Weill-Marchesani syndrome Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA059678	rs_187553035	11 SubmittersRCV000229179 RCV000270822 RCV000273444 RCV000295866 RCV000330801 RCV000387643 RCV000362980 RCV000365739 RCV000506463 RCV001706243
NM_000138.5(FBN1):c.6313+5G>A	SNV Germline	Chr15:48437763	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10583239	rs_878853688	2 SubmittersRCV000229033 RCV001559866
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)	SNV Germline	Chr15:48437809	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA10583240	rs_878853687	1 SubmittersRCV000234135
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)	SNV Germline	Chr15:48446811	Pathogenic/Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10583241	rs_878853686	3 SubmittersRCV000227015 RCV001388234 RCV002315679
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser)	SNV Germline	Chr15:48452603	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA10583242	rs_111929350	1 SubmittersRCV001378305
NM_000138.5(FBN1):c.5423-4G>A	SNV Germline	Chr15:48452688	Conflicting classifications of pathogenicity	not specified Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA054949	rs_377036485	7 SubmittersRCV000277311 RCV000726081 RCV001089035 RCV001186933 RCV004541367
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)	SNV Germline	Chr15:48463164	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA054359	rs_368287795	8 SubmittersRCV000229864 RCV000663764 RCV001189722 RCV001572135 RCV003155134
NM_000138.5(FBN1):c.5066-7C>G	SNV Germline	Chr15:48463247	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified Marfan syndrome	Criteria Provided Conflicting Classifications	CA10583243	rs_377369765	5 SubmittersRCV001087425 RCV001185254 RCV000827550 RCV003488482 RCV003998705
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter)	SNV Germline	Chr15:48463926	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA10583244	rs_878853685	1 SubmittersRCV001382826
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser)	SNV Germline	Chr15:48470639	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA10583246	rs_111978932	1 SubmittersRCV001379844
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)	SNV Germline	Chr15:48470650	Conflicting classifications of pathogenicity	not specified Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA052995	rs_145040593	6 SubmittersRCV000297607 RCV000726078 RCV001078738 RCV001184770
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)	SNV Germline	Chr15:48481683	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Geleophysic dysplasia Stiff skin syndrome Weill-Marchesani syndrome Acromicric dysplasia Ectopia lentis 1, isolated, autosomal dominant Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA051715	rs_779913610	7 SubmittersRCV000246111 RCV000284767 RCV000285893 RCV000329222 RCV000336392 RCV000380304 RCV000402570 RCV000590159 RCV001088290 RCV002282068
NM_000138.5(FBN1):c.2539+10T>A	SNV Germline	Chr15:48495459	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided FBN1-related disorder	Criteria Provided Conflicting Classifications	CA10583249	rs_878853679	3 SubmittersRCV000229604 RCV000788536 RCV004532831
NM_000138.5(FBN1):c.1961-7T>C	SNV Germline	Chr15:48503946	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA10583252	rs_878853675	6 SubmittersRCV000607743 RCV001406817 RCV001184020 RCV003998703 RCV004541366
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)	SNV Germline	Chr15:48505069	Likely pathogenic	Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Single Submitter	CA10583253	rs_878853676	2 SubmittersRCV000229819 RCV001378355
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)	SNV Germline	Chr15:48505101	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Weill-Marchesani syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Geleophysic dysplasia	Criteria Provided Conflicting Classifications	CA046238	rs_150421653	5 SubmittersRCV000232001 RCV001120395 RCV001120396 RCV001120104 RCV001120105 RCV001120398 RCV001120106 RCV001120397
NM_000138.5(FBN1):c.783T>C (p.Asn261=)	SNV Germline	Chr15:48534159	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection not specified Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Acromicric dysplasia Geleophysic dysplasia Weill-Marchesani syndrome Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA059270	rs_113721547	12 SubmittersRCV000246115 RCV000252306 RCV000265635 RCV000295843 RCV000326369 RCV000348393 RCV000387961 RCV000384555 RCV001709518 RCV001088054
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)	SNV Germline	Chr15:48537615	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10583254	rs_878853689	2 SubmittersRCV000229926 RCV002378962
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)	SNV Germline	Chr15:48600147	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10583255	rs_878853682	3 SubmittersRCV000229641 RCV001843947 RCV002327102
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)	SNV Germline	Chr15:48434633	Conflicting classifications of pathogenicity	not specified Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Ectopia lentis 1, isolated, autosomal dominant Weill-Marchesani syndrome Condition: not provided Stiff skin syndrome	Criteria Provided Conflicting Classifications	CA057010	rs_201361628	11 SubmittersRCV000245988 RCV000663879 RCV000631925 RCV001118923 RCV001118924 RCV001118925 RCV001118926 RCV001561438 RCV001118927
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)	SNV Germline	Chr15:48481774	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA051637	rs_140647	6 SubmittersRCV000249503 RCV001347798 RCV001191554 RCV003989507
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)	SNV Germline	Chr15:48487321	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome 8 conditions	Criteria Provided Conflicting Classifications	CA050634	rs_140890215	8 SubmittersRCV000243495 RCV001044344 RCV001184767 RCV001658158 RCV003998948 RCV003224240
NM_000138.5(FBN1):c.2113+19A>T	SNV Germline	Chr15:48503768	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA046793	rs_541501178	3 SubmittersRCV000247865 RCV003765491
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)	SNV Germline	Chr15:48411118	Likely pathogenic	Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA10587783	rs_886038795	4 SubmittersRCV000253392 RCV000631975 RCV000664028
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)	SNV Germline	Chr15:48412646	Pathogenic	Cardiovascular phenotype Marfan syndrome	Criteria Provided Single Submitter	CA10587785	rs_187553035	3 SubmittersRCV000247812 RCV000664013
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)	SNV Germline	Chr15:48415581	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10587787	rs_886038869	4 SubmittersRCV000532950 RCV000493369 RCV002310850 RCV004594035
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)	SNV Germline	Chr15:48415759	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome 8 conditions Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10587789	rs_111984349	8 SubmittersRCV000540250 RCV000659583 RCV000763353 RCV001374807 RCV002311119 RCV003441830
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)	SNV Germline	Chr15:48412606	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Condition: not provided Marfan syndrome FBN1-related disorder	Criteria Provided Conflicting Classifications	CA059742	rs_200231626	8 SubmittersRCV001059803 RCV001184762 RCV002503961 RCV003441827 RCV003995708 RCV004725130
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)	SNV Germline	Chr15:48415685	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA059325	rs_138621371	9 SubmittersRCV000359658 RCV000725965 RCV000770654 RCV001080597 RCV003999031
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)	SNV Germline	Chr15:48420798	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587791	rs_886038786	6 SubmittersRCV000480933 RCV000794952 RCV000780252 RCV002310834
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)	SNV Germline	Chr15:48427715	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Acromicric dysplasia Stiff skin syndrome Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome Geleophysic dysplasia not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA057877	rs_149697299	11 SubmittersRCV000245150 RCV000269442 RCV000303029 RCV000305833 RCV000360147 RCV000360515 RCV000390288 RCV000419193 RCV000487841 RCV001086203
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)	SNV Germline	Chr15:48437027	Likely pathogenic	Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587800	rs_886038943	2 SubmittersRCV000246065 RCV001859450
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)	SNV Germline	Chr15:48428459	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10587802	rs_886038949	6 SubmittersRCV000631910 RCV000659572 RCV002310863 RCV004777642
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)	SNV Germline	Chr15:48444546	Likely pathogenic	Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA10587803	rs_886038967	6 SubmittersRCV000413845 RCV001260318 RCV002310892 RCV002518701 RCV003888667
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)	SNV Germline	Chr15:48434627	Pathogenic/Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587804	rs_886038976	4 SubmittersRCV000700740 RCV000663880 RCV002310907
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)	SNV Germline	Chr15:48444657	Conflicting classifications of pathogenicity	Marfan syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection 8 conditions Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA055867	rs_765878996	7 SubmittersRCV000663834 RCV001093333 RCV001183769 RCV002487161 RCV002518732
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)	SNV Germline	Chr15:48456687	Pathogenic/Likely pathogenic	Cardiovascular phenotype Marfan syndrome Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587814	rs_886038848	5 SubmittersRCV000253774 RCV000663780 RCV000781361 RCV003765551
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)	SNV Germline	Chr15:48465575	Conflicting classifications of pathogenicity	Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome	Criteria Provided Conflicting Classifications	CA10587820	rs_886038897	4 SubmittersRCV000241785 RCV001410010 RCV000788803 RCV002245987
NM_000138.5(FBN1):c.4209A>G (p.Thr1403=)	SNV Germline	Chr15:48474256	Conflicting classifications of pathogenicity	Cardiovascular phenotype Marfan syndrome	Criteria Provided Conflicting Classifications	CA10587823	rs_886038931	2 SubmittersRCV000242111 RCV004804975
NM_000138.5(FBN1):c.4337-3A>C	SNV Germline	Chr15:48470759	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA052645	rs_770551687	4 SubmittersRCV001179385 RCV001859451 RCV003995692
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)	SNV Germline	Chr15:48472556	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome Isolated thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587827	rs_886038940	4 SubmittersRCV000521275 RCV000663716 RCV001374759 RCV002310858
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)	SNV Germline	Chr15:48474369	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA052073	rs_763449629	2 SubmittersRCV002310878 RCV002518700
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)	SNV Germline	Chr15:48487161	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder 8 conditions Marfan syndrome	Criteria Provided Conflicting Classifications	CA050971	rs_776667707	10 SubmittersRCV000455893 RCV000587326 RCV000818595 RCV001180575 RCV002278238 RCV002500949 RCV003995705
NM_000138.5(FBN1):c.3209-1G>C	SNV Germline	Chr15:48488242	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10587835	rs_886038956	2 SubmittersRCV002310873 RCV003765555
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)	SNV Germline	Chr15:48488404	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587836	rs_886039208	3 SubmittersRCV001064425 RCV001190248
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)	SNV Germline	Chr15:48488487	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Ectopia lentis 1, isolated, autosomal dominant Acromicric dysplasia Marfan syndrome Geleophysic dysplasia Weill-Marchesani syndrome not specified Cardiovascular phenotype Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Condition: not provided Connective tissue disorder FBN1-related disorder	Criteria Provided Conflicting Classifications	CA049873	rs_375996640	9 SubmittersRCV000253902 RCV000283744 RCV000288603 RCV000333243 RCV000341215 RCV000380751 RCV000403646 RCV000609438 RCV000617142 RCV000868279 RCV001697728 RCV002278227 RCV004535218
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)	SNV Germline	Chr15:48487318	Likely pathogenic	Cardiovascular phenotype Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Reviewed By Expert Panel	CA10587839	rs_886038877	3 SubmittersRCV000246794 RCV000770674 RCV003476878
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)	SNV Germline	Chr15:48495176	Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Reviewed By Expert Panel	CA10587846	rs_886039038	4 SubmittersRCV000769646 RCV001063194 RCV003476879
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)	SNV Germline	Chr15:48495484	Pathogenic	Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587847	rs_886038941	2 SubmittersRCV000243409 RCV003765554
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)	SNV Germline	Chr15:48496176	Conflicting classifications of pathogenicity	Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Conflicting Classifications	CA10587849	rs_199647257	3 SubmittersRCV000243636 RCV002058495 RCV003999005
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)	SNV Germline	Chr15:48499025	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA10587852	rs_886038990	6 SubmittersRCV000788227 RCV001182479 RCV001394805 RCV003995702
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)	SNV Germline	Chr15:48497358	Likely pathogenic	Cardiovascular phenotype Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587853	rs_794728187	2 SubmittersRCV000248573 RCV000706264
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)	SNV Germline	Chr15:48503807	Conflicting classifications of pathogenicity	Congenital aneurysm of ascending aorta Acute aortic dissection Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided Marfan syndrome	Criteria Provided Conflicting Classifications	CA046724	rs_764827921	7 SubmittersRCV000755195 RCV000631931 RCV001184007 RCV001264433 RCV001753735 RCV003995716
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)	SNV Germline	Chr15:48503806	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Weill-Marchesani syndrome Stiff skin syndrome Acromicric dysplasia Condition: not provided not specified FBN1-related disorder	Criteria Provided Conflicting Classifications	CA046748	rs_144775475	10 SubmittersRCV000459653 RCV000777611 RCV001118567 RCV001118569 RCV001118568 RCV001118570 RCV001118571 RCV001118572 RCV001722380 RCV003330616 RCV004542960
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)	SNV Germline	Chr15:48516352	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Marfan syndrome	Criteria Provided Conflicting Classifications	CA043875	rs_368737502	6 SubmittersRCV000631989 RCV001188119 RCV001660387 RCV003999026
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)	SNV Germline	Chr15:48508612	Pathogenic/Likely pathogenic	Cardiovascular phenotype Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10587860	rs_886038963	2 SubmittersRCV000241933 RCV004596151
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)	SNV Germline	Chr15:48600142	Pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587865	rs_886039036	2 SubmittersRCV000659502 RCV002310979
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)	SNV Germline	Chr15:48520677	Likely pathogenic	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA10587868	rs_886039066	2 SubmittersRCV000804876 RCV002311083
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)	SNV Germline	Chr15:48644763	Pathogenic	Cardiovascular phenotype Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome FBN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10587869	rs_886038797	4 SubmittersRCV000246054 RCV000523738 RCV001389971 RCV004535213
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	SNV Germline	Chr15:48495219	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 8 conditions not specified Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm	Criteria Provided Multiple Submitters No Conflicts	CA10588587	rs_140583	10 SubmittersRCV000254863 RCV000590228 RCV000663557 RCV000810561 RCV000767971 RCV000507994 RCV000614836 RCV001374789
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)	SNV Germline	Chr15:48520764	Pathogenic/Likely pathogenic	Condition: not provided Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588589	rs_886039550	4 SubmittersRCV000254731 RCV001778876 RCV001798764 RCV002272198
NM_000138.5(FBN1):c.2114-2A>C	SNV Germline	Chr15:48499040	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603342	rs_886041440	2 SubmittersRCV000380850 RCV001050524
NM_000138.5(FBN1):c.2T>G (p.Met1Arg)	SNV Germline	Chr15:48644768	Pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603351	rs_886041536	2 SubmittersRCV000362200 RCV002519049
NM_000138.5(FBN1):c.6380-2A>C	SNV Germline	Chr15:48437079	Pathogenic/Likely pathogenic	Condition: not provided Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603438	rs_886041482	2 SubmittersRCV000315289 RCV002245989
NM_000138.5(FBN1):c.5917+1G>A	SNV Germline	Chr15:48445375	Pathogenic/Likely pathogenic	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603448	rs_363808	2 SubmittersRCV000274273 RCV001855063
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)	SNV Germline	Chr15:48463966	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Marfan syndrome Weill-Marchesani syndrome Acromicric dysplasia	Criteria Provided Conflicting Classifications	CA054123	rs_141925790	11 SubmittersRCV000346591 RCV000776203 RCV000781381 RCV001079329 RCV001121216 RCV001121218 RCV001121220 RCV001121221 RCV001121217 RCV001121219
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)	SNV Germline	Chr15:48513571	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10604763	rs_531264662	4 SubmittersRCV000349694 RCV003528165 RCV003995770 RCV003765618
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)	SNV Germline	Chr15:48526138	Conflicting classifications of pathogenicity	Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions	Criteria Provided Conflicting Classifications	CA060463	rs_775206410	4 SubmittersRCV000333932 RCV000687611 RCV002503992
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)	SNV Germline	Chr3:30672225	Conflicting classifications of pathogenicity	Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 1	Criteria Provided Conflicting Classifications	CA045456	rs_144701411	4 SubmittersRCV000263258 RCV000315631 RCV000354050 RCV004804987 RCV004527373
NM_003242.6(TGFBR2):c.-307C>T	SNV Germline	Chr3:30606577	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Loeys-Dietz syndrome Malignant tumor of esophagus Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10616068	rs_749340193	4 SubmittersRCV000262441 RCV000353680 RCV000301197 RCV002487511 RCV004021902
NM_003242.6(TGFBR2):c.-18C>A	SNV Germline	Chr3:30606866	Conflicting classifications of pathogenicity	Marfan syndrome Loeys-Dietz syndrome 2 Loeys-Dietz syndrome Condition: not provided Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10616073	rs_753369354	3 SubmittersRCV000274788 RCV000314596 RCV000366965 RCV004694732 RCV004021909
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)	SNV Germline	Chr3:30671873	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Condition: not provided Marfan syndrome Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA049703	rs_201560560	8 SubmittersRCV000266417 RCV000323947 RCV001171831 RCV000363353 RCV003995878
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)	SNV Germline	Chr3:30688457	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Marfan syndrome	Criteria Provided Conflicting Classifications	CA046683	rs_141113059	3 SubmittersRCV000311985 RCV000272154 RCV000369079
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)	SNV Germline	Chr3:30671804	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA10618020	rs_886058304	4 SubmittersRCV000306258 RCV000400569 RCV000365458 RCV003995877
NM_003242.6(TGFBR2):c.*859G>A	SNV Germline	Chr3:30692458	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10618034	rs_548242538	1 SubmittersRCV000268242 RCV000323399 RCV000358273
NM_003242.6(TGFBR2):c.*2066G>A	SNV Germline	Chr3:30693665	Conflicting classifications of pathogenicity	Marfan syndrome Loeys-Dietz syndrome 2 Loeys-Dietz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10618058	rs_566913021	2 SubmittersRCV000310536 RCV000339756 RCV000403210 RCV003437094
NM_003242.6(TGFBR2):c.-371A>C	SNV Germline	Chr3:30606513	Conflicting classifications of pathogenicity	Marfan syndrome Loeys-Dietz syndrome Loeys-Dietz syndrome 2 Malignant tumor of esophagus Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10618389	rs_886058297	3 SubmittersRCV000306322 RCV000342599 RCV000393157 RCV002488745 RCV004021901
NM_003242.6(TGFBR2):c.-117G>A	SNV Germline	Chr3:30606767	Conflicting classifications of pathogenicity	Marfan syndrome Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Diabetic retinopathy	Criteria Provided Conflicting Classifications	CA10618391	rs_886058302	2 SubmittersRCV000275823 RCV000296967 RCV000354124 RCV004021908
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)	SNV Germline	Chr3:30671879	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Loeys-Dietz syndrome Loeys-Dietz syndrome 2	Criteria Provided Conflicting Classifications	CA049716	rs_768508812	5 SubmittersRCV000266080 RCV000318801 RCV000357700 RCV003995879
NM_003242.6(TGFBR2):c.*352A>G	SNV Germline	Chr3:30691951	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10618394	rs_565524213	1 SubmittersRCV000274324 RCV000333961 RCV000388543
NM_003242.6(TGFBR2):c.*988C>T	SNV Germline	Chr3:30692587	Conflicting classifications of pathogenicity	Loeys-Dietz syndrome 2 Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10618396	rs_138036906	1 SubmittersRCV000260051 RCV000319870 RCV000373416
NM_000138.5(FBN1):c.*2395G>A	SNV Germline	Chr15:48408595	Conflicting classifications of pathogenicity	Geleophysic dysplasia Stiff skin syndrome Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Weill-Marchesani syndrome	Criteria Provided Conflicting Classifications	CA10636118	rs_184719603	1 SubmittersRCV000274471 RCV000287516 RCV000327277 RCV000333103 RCV000344869 RCV000378503 RCV000384154
NM_000138.5(FBN1):c.*2024A>G	SNV Germline	Chr15:48408966	Conflicting classifications of pathogenicity	Marfan syndrome Geleophysic dysplasia Weill-Marchesani syndrome Acromicric dysplasia Familial thoracic aortic aneurysm and aortic dissection Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10636123	rs_558488257	2 SubmittersRCV000265962 RCV000313640 RCV000321072 RCV000329178 RCV000363558 RCV000380116 RCV000383738 RCV003311752
NM_000138.5(FBN1):c.*1949T>C	SNV Germline	Chr15:48409041	Conflicting classifications of pathogenicity	Geleophysic dysplasia Stiff skin syndrome Ectopia lentis 1, isolated, autosomal dominant Acromicric dysplasia Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome	Criteria Provided Conflicting Classifications	CA10636127	rs_534577080	1 SubmittersRCV000290556 RCV000303126 RCV000347450 RCV000344396 RCV000360170 RCV000391617 RCV000403156
NM_000138.5(FBN1):c.*1580G>A	SNV Germline	Chr15:48409410	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Acromicric dysplasia Stiff skin syndrome Marfan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10636134	rs_17352989	2 SubmittersRCV000291314 RCV000298828 RCV000304567 RCV000339349 RCV000392600 RCV000392595 RCV000390840 RCV002262989
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)	SNV Germline	Chr15:48421596	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Ectopia lentis 1, isolated, autosomal dominant Marfan syndrome Acromicric dysplasia Weill-Marchesani syndrome Stiff skin syndrome not specified Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA058980	rs_199522781	7 SubmittersRCV000290065 RCV000297567 RCV000313030 RCV000347326 RCV000382117 RCV000396029 RCV000400646 RCV000454621 RCV000766961 RCV001081111
NM_000138.5(FBN1):c.5788+4C>A	SNV Germline	Chr15:48446702	Conflicting classifications of pathogenicity	Ectopia lentis Weill-Marchesani syndrome Marfan syndrome MASS syndrome Geleophysic dysplasia Stiff skin syndrome Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Condition: not provided Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA055644	rs_577301285	7 SubmittersRCV000268444 RCV000308093 RCV000309387 RCV000349101 RCV000347712 RCV000360488 RCV000396467 RCV000396460 RCV001093334 RCV003765835
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)	SNV Germline	Chr15:48446770	Conflicting classifications of pathogenicity	Geleophysic dysplasia Acromicric dysplasia Weill-Marchesani syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Stiff skin syndrome Marfan syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA055450	rs_141219664	6 SubmittersRCV000262510 RCV000302528 RCV000320176 RCV000333041 RCV000359544 RCV000372546 RCV000388834 RCV001496138 RCV002292524
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)	SNV Germline	Chr15:48483916	Conflicting classifications of pathogenicity	Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Stiff skin syndrome Marfan syndrome Weill-Marchesani syndrome Acromicric dysplasia Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA051501	rs_568625812	6 SubmittersRCV000296357 RCV000310061 RCV000350260 RCV000351320 RCV000375658 RCV000403503 RCV000404390 RCV001523627 RCV004808681
NM_000138.5(FBN1):c.3337+11G>A	SNV Germline	Chr15:48488102	Conflicting classifications of pathogenicity	Ectopia lentis 1, isolated, autosomal dominant Stiff skin syndrome Marfan syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Weill-Marchesani syndrome Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Acromicric dysplasia Geleophysic dysplasia	Criteria Provided Conflicting Classifications	CA050323	rs_368726848	4 SubmittersRCV000314739 RCV000349919 RCV000343941 RCV000439260 RCV000395417 RCV000405694 RCV002056464 RCV000358194 RCV000404829
NM_000138.5(FBN1):c.723G>A (p.Thr241=)	SNV Germline	Chr15:48537624	Conflicting classifications of pathogenicity	Acromicric dysplasia Stiff skin syndrome Marfan syndrome Geleophysic dysplasia Weill-Marchesani syndrome Ectopia lentis 1, isolated, autosomal dominant Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection FBN1-related disorder	Criteria Provided Conflicting Classifications	CA058155	rs_757264206	5 SubmittersRCV000280636 RCV000298208 RCV000302539 RCV000337778 RCV000386712 RCV000391098 RCV000405430 RCV001246310 RCV004537783

NM_000138.5(FBN1):c.3410G>C (p.Arg1137Pro)

SNV
Germline

Chr15:48487365

Pathogenic

Marfan syndrome, severe classic

No Assertion Criteria Provided

CA014076

rs_137854456

1 SubmittersRCV000017883

NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser)

SNV
Germline

Chr15:48428423

Pathogenic

Marfan syndrome, mild variable
Marfan syndrome

No Assertion Criteria Provided

CA016845

rs_137854457

2 SubmittersRCV000017884 RCV000663912

NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)

SNV
Germline

Chr15:48411338

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA017671

rs_267606796

3 SubmittersRCV000017886 RCV001851898 RCV004821963

NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)

SNV
Germline

Chr15:48483910

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA014509

rs_137854458

2 SubmittersRCV000017887 RCV002345247

NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg)

SNV
Germline

Chr15:48463977

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA015538

rs_137854459

1 SubmittersRCV000017888

NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser)

SNV
Germline

Chr15:48432943

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA016633

rs_137854460

1 SubmittersRCV000017889

NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)

SNV
Germline

Chr15:48487425

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA013991

rs_137854470

2 SubmittersRCV000017890 RCV003764581

NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)

SNV
Germline

Chr15:48483931

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA014498

rs_137854471

5 SubmittersRCV000017891 RCV000812017

NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)

SNV
Germline

Chr15:48437362

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016342

rs_267606797

3 SubmittersRCV000017892 RCV000701293

NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)

SNV
Germline

Chr15:48437026

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA016451

rs_137854461

10 SubmittersRCV000017893 RCV000524502 RCV001170530 RCV001836710

NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)

SNV
Germline

Chr15:48510115

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012380

rs_137854462

3 SubmittersRCV000017894 RCV003764582

NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)

SNV
Germline

Chr15:48497391

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012833

rs_137854463

4 SubmittersRCV000017895 RCV002426510 RCV003764583

NM_000138.5(FBN1):c.6739+1G>C

SNV
Germline

Chr15:48432865

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA392333153

rs_869025419

2 SubmittersRCV000017898

NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)

SNV
Germline

Chr15:48425483

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017155

rs_137854464

9 SubmittersRCV002381253 RCV000422790 RCV000017899 RCV000417099 RCV000844887 RCV000695313

NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)

SNV
Germline

Chr15:48488230

Pathogenic

Neonatal Marfan syndrome

No Assertion Criteria Provided

CA013911

rs_137854465

1 SubmittersRCV000017900

NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)

SNV
Germline

Chr15:48411280

Pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA017692

rs_137854466

12 SubmittersRCV000017901 RCV000181630 RCV000631918 RCV001374806 RCV002310993

NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)

SNV
Germline

Chr15:48600217

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome, atypical
Marfan syndrome
not specified
8 conditions
Aortic dissection
Lens subluxation
Arachnodactyly
High palate

Criteria Provided
Multiple Submitters
No Conflicts

CA014381

rs_137854467

13 SubmittersRCV000181647 RCV001798007 RCV001201375 RCV000017902 RCV000029732 RCV001000178 RCV002496395 RCV000626614

NM_000138.5(FBN1):c.3965-2A>T

SNV
Germline

Chr15:48474652

Pathogenic

Neonatal Marfan syndrome

No Assertion Criteria Provided

CA014647

rs_387906547

1 SubmittersRCV000017903

NM_000138.5(FBN1):c.4087+1G>A

SNV
Germline

Chr15:48474527

Pathogenic

Neonatal Marfan syndrome
Marfan syndrome

Criteria Provided
Single Submitter

CA014744

rs_387906548

2 SubmittersRCV000017904 RCV000659538

NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)

SNV
Germline

Chr15:48487396

Conflicting classifications of pathogenicity

Marfan syndrome, mild
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014015

rs_137854468

4 SubmittersRCV000017905 RCV000590660 RCV000631963

NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)

SNV
Germline

Chr15:48485418

Pathogenic

Marfan syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA014399

rs_137854469

2 SubmittersRCV000017906 RCV000242083

NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)

SNV
Germline

Chr15:48412619

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Acromicric dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017597

rs_61746008

19 SubmittersRCV000029787 RCV000181628 RCV000243696 RCV000279856 RCV000306003 RCV000394448 RCV000337198 RCV000399653 RCV000586191 RCV001081571

NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)

SNV
Germline

Chr15:48488448

Conflicting classifications of pathogenicity

Neonatal Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA013794

rs_137854472

3 SubmittersRCV000017909 RCV002321486 RCV003764584

NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr)

SNV
Germline

Chr15:48487384

Pathogenic

Neonatal Marfan syndrome

No Assertion Criteria Provided

CA014044

rs_137854473

1 SubmittersRCV000017910

NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)

SNV
Germline

Chr15:48437347

Pathogenic

Marfan syndrome
Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016359

rs_112989722

8 SubmittersRCV000017912 RCV000483725 RCV000589136 RCV000704427 RCV002310629

NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg)

SNV
Germline

Chr15:48483863

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA014552

rs_137854474

1 SubmittersRCV000017913

NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)

SNV
Germline

Chr15:48513552

Pathogenic

Marfan syndrome
Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012291

rs_137854476

10 SubmittersRCV000017915 RCV000181685 RCV000586473 RCV000769652 RCV000999929 RCV000632013

NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)

SNV
Germline

Chr15:48489979

Likely pathogenic

Marfan syndrome, atypical
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA013595

rs_137854477

2 SubmittersRCV000017916 RCV002433459

NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg)

SNV
Germline

Chr15:48489896

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA013690

rs_140593

1 SubmittersRCV000017918

NM_000138.5(FBN1):c.5788+1G>A

SNV
Germline

Chr15:48446705

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA392340994

rs_1555395819

1 SubmittersRCV000017919

NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)

SNV
Germline

Chr15:48488233

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA013900

rs_137854478

7 SubmittersRCV000017920 RCV000181482 RCV000227621 RCV000582993 RCV000684781 RCV002313714

NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)

SNV
Germline

Chr15:48497298

Pathogenic

Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012911

rs_137854479

4 SubmittersRCV000017923 RCV000587806 RCV003764585

NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)

SNV
Germline

Chr15:48537629

Pathogenic/Likely pathogenic

Ectopia lentis 1, isolated, autosomal dominant
Condition: not provided
Marfan syndrome
Familial ectopia lentis
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA017067

rs_137854480

13 SubmittersRCV000017925 RCV000181681 RCV000017924 RCV002307365 RCV000515367 RCV000631968 RCV001170326

NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr)

SNV
Germline

Chr15:48488481

Pathogenic

Neonatal Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA013783

rs_137854481

2 SubmittersRCV000017926 RCV000532010

NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr)

SNV
Germline

Chr15:48487389

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA014024

rs_137854482

2 SubmittersRCV000017927 RCV002514108

NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr)

SNV
Germline

Chr15:48485424

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA014391

rs_137854483

1 SubmittersRCV000030943

NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr)

SNV
Unknown

Chr15:48488193

Pathogenic

Neonatal Marfan syndrome

No Assertion Criteria Provided

CA013941

rs_137854484

1 SubmittersRCV000017929

NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)

SNV
Germline

Chr15:48515402

Pathogenic

Marfan syndrome, autosomal recessive
not specified
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA012160

rs_137854485

7 SubmittersRCV000017930 RCV000150705 RCV000663457 RCV000809693 RCV002390114

NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)

SNV
Germline

Chr7:94420276

Conflicting classifications of pathogenicity

Marfan syndrome, atypical
not specified
Connective tissue disorder
Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Condition: not provided
Postmenopausal osteoporosis
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA210743

rs_72658163

10 SubmittersRCV000018790 RCV000413739 RCV000680486 RCV001162671 RCV001162670 RCV001200183 RCV001330774 RCV002228038 RCV002415422

NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)

SNV
Germline

Chr15:48463210

Pathogenic

Geleophysic dysplasia 2
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015621

rs_387906622

3 SubmittersRCV000022543 RCV000022544 RCV002513168

NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)

SNV
Germline

Chr15:48460258

Pathogenic

Geleophysic dysplasia 2
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015740

rs_387906623

11 SubmittersRCV000022545 RCV004018662 RCV000255619 RCV001389174

NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)

SNV
Germline

Chr15:48463219

Pathogenic/Likely pathogenic

Geleophysic dysplasia 2
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015611

rs_387906625

3 SubmittersRCV000022548 RCV003764623

NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)

SNV
Germline

Chr15:48463207

Pathogenic/Likely pathogenic

Acromicric dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015638

rs_387906626

6 SubmittersRCV000022550 RCV000494669 RCV001851997

NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)

SNV
Germline

Chr15:48510048

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012495

rs_193922183

2 SubmittersRCV000589677 RCV002399339

NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)

SNV
Germline

Chr15:48505037

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012686

rs_193922185

11 SubmittersRCV000029702 RCV000493360 RCV000507859 RCV000631908 RCV000763357 RCV001798013

NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)

SNV
Germline

Chr15:48503845

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Stiff skin syndrome
MASS syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012728

rs_140603

6 SubmittersRCV000029703 RCV000631929 RCV003330401

NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)

SNV
Germline

Chr15:48503843

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA012756

rs_193922186

2 SubmittersRCV000029705 RCV004821965

NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)

SNV
Germline

Chr15:48496150

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA012976

rs_193922188

1 SubmittersRCV000029707

NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)

SNV
Germline

Chr15:48495575

Pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013041

rs_193921256

5 SubmittersRCV000493454 RCV000588833 RCV000663539 RCV002310635

NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)

SNV
Germline

Chr15:48495258

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA013202

rs_193922191

2 SubmittersRCV000029713 RCV002513248

NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)

SNV
Germline

Chr15:48610808

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013283

rs_112660651

1 SubmittersRCV000029715

NM_000138.5(FBN1):c.2677G>C (p.Asp893His)

SNV
Germline

Chr15:48495123

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013303

rs_193922193

1 SubmittersRCV000029716

NM_000138.5(FBN1):c.2855-1G>C

SNV
Germline

Chr15:48490079

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013455

rs_112202622

2 SubmittersRCV000029718 RCV002433477

NM_000138.5(FBN1):c.2855-8T>C

SNV
Germline

Chr15:48490086

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA013464

rs_193922195

4 SubmittersRCV000029719 RCV003764640 RCV003528138 RCV004532411

NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)

SNV
Germline

Chr15:48489907

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
MASS syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome 2, dominant
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA013673

rs_148076256

9 SubmittersRCV000541723 RCV000590133 RCV000777737 RCV001558963 RCV002477019 RCV003227610 RCV003996125

NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)

SNV
Germline

Chr15:48487186

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014194

rs_193922199

1 SubmittersRCV000029727

NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)

SNV
Germline

Chr15:48487104

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Acromicric dysplasia
Weill-Marchesani syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA014274

rs_193922200

7 SubmittersRCV000029728 RCV000035176 RCV000631909 RCV001119599 RCV001119600 RCV001119601 RCV001119598 RCV001121593 RCV002477020

NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)

SNV
Germline

Chr15:48474300

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014826

rs_193922203

1 SubmittersRCV000029735

NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)

SNV
Germline

Chr15:48470652

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
8 conditions
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA015068

rs_61730054

15 SubmittersRCV000029736 RCV000035201 RCV000515317 RCV000724063 RCV001088381 RCV001176800 RCV004541020

NM_000138.5(FBN1):c.4460-8G>A

SNV
Germline

Chr15:48468542

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA015110

rs_193922204

11 SubmittersRCV000029737 RCV000429823 RCV000524498 RCV000507229 RCV002326689

NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)

SNV
Germline

Chr15:48468527

Pathogenic/Likely pathogenic

Marfan syndrome
not specified
Acute aortic dissection
Congenital aneurysm of ascending aorta
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015124

rs_193922205

9 SubmittersRCV000029738 RCV000586485 RCV000755191 RCV000855643 RCV001046640 RCV001843461 RCV002326690

NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)

SNV
Germline

Chr15:48596367

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015186

rs_193922206

1 SubmittersRCV000029739

NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)

SNV
Germline

Chr15:48468097

Pathogenic/Likely pathogenic

Marfan syndrome
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA015232

rs_111401431

18 SubmittersRCV000029740 RCV000515364 RCV000524499 RCV000724901 RCV002310994 RCV002265569 RCV004532413

NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)

SNV
Germline

Chr15:48468001

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015315

rs_193922207

1 SubmittersRCV000029741

NM_000138.5(FBN1):c.4747+5G>C

SNV
Germline

Chr15:48467933

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA015404

rs_193922209

3 SubmittersRCV000029743 RCV000631976

NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)

SNV
Germline

Chr15:48465820

Pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA015431

rs_113871094

15 SubmittersRCV000029744 RCV000181534 RCV000524501 RCV000515166 RCV001170767 RCV004799750

NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)

SNV
Germline

Chr15:48596311

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015657

rs_111671429

6 SubmittersRCV000029747 RCV000492866 RCV001221819

NM_000138.5(FBN1):c.510C>T (p.Tyr170=)

SNV
Germline

Chr15:48596311

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Geleophysic dysplasia
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Acromicric dysplasia
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA015665

rs_111671429

15 SubmittersRCV000029748 RCV000035220 RCV000277063 RCV000307637 RCV000311281 RCV000368323 RCV000369297 RCV000393923 RCV000726148 RCV001083354

NM_000138.5(FBN1):c.5545+12C>T

SNV
Germline

Chr15:48452550

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA015878

rs_193922213

2 SubmittersRCV000029751 RCV003764641

NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)

SNV
Germline

Chr15:48448887

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA015886

rs_193922214

2 SubmittersRCV000029752 RCV003764642

NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)

SNV
Germline

Chr15:48537791

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA015898

rs_193922215

1 SubmittersRCV003317046

NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)

SNV
Germline

Chr15:48448768

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015930

rs_193922216

2 SubmittersRCV000029754 RCV001208967

NM_000138.5(FBN1):c.5672-3T>C

SNV
Germline

Chr15:48446825

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015937

rs_193922217

6 SubmittersRCV000029755 RCV000771199 RCV000864829 RCV003144113

NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)

SNV
Germline

Chr15:48644714

Conflicting classifications of pathogenicity

Marfan syndrome

Criteria Provided
Conflicting Classifications

CA015969

rs_193922218

2 SubmittersRCV000029756

NM_000138.5(FBN1):c.5788+5G>T

SNV
Germline

Chr15:48446701

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA016073

rs_193922219

4 SubmittersRCV000029757 RCV004700286

NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)

SNV
Germline

Chr15:48437072

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016393

rs_193922223

1 SubmittersRCV000029762

NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)

SNV
Germline

Chr15:48537698

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016532

rs_193922224

1 SubmittersRCV000029763

NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)

SNV
Germline

Chr15:48432905

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Acromicric dysplasia
Connective tissue disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA016669

rs_112084407

20 SubmittersRCV000029766 RCV000035252 RCV000270709 RCV000273547 RCV000310000 RCV000659568 RCV000726908 RCV000769627 RCV001081774 RCV004532415

NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)

SNV
Germline

Chr15:48430736

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
8 conditions
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016742

rs_193922228

11 SubmittersRCV000029769 RCV000255307 RCV000515227 RCV000586646 RCV000534047 RCV002310995

NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)

SNV
Germline

Chr15:48428373

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016873

rs_148831709

7 SubmittersRCV000029771 RCV000769623 RCV002513250 RCV003234924 RCV001753430

NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)

SNV
Germline

Chr15:48427699

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA016976

rs_140537304

9 SubmittersRCV000029773 RCV000181589 RCV000757279 RCV001087538 RCV001183241 RCV004541022

NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)

SNV
Germline

Chr15:48425840

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017104

rs_193922230

1 SubmittersRCV000029774

NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)

SNV
Germline

Chr15:48425410

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA017196

rs_193922233

7 SubmittersRCV000029777 RCV000181602 RCV000474840 RCV000766959 RCV002504828

NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)

SNV
Germline

Chr15:48421591

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA017323

rs_193922234

5 SubmittersRCV000029778 RCV000484503 RCV002313721 RCV001212859 RCV004528138

NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)

SNV
Germline

Chr15:48420780

Pathogenic

Marfan syndrome
Marfan syndrome, autosomal recessive
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
FBN1-related disorder

Reviewed By Expert Panel

CA017349

rs_147195031

11 SubmittersRCV000029780 RCV000083258 RCV000788741 RCV000539171 RCV001374808 RCV002399340 RCV003492302 RCV004532416

NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)

SNV
Germline

Chr15:48420700

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA017375

rs_193922236

4 SubmittersRCV000029781 RCV000181599 RCV002313722

NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)

SNV
Germline

Chr15:48415708

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017435

rs_193922239

3 SubmittersRCV000029784 RCV001378424 RCV003448903

NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)

SNV
Germline

Chr15:48415689

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017457

rs_193922240

1 SubmittersRCV000029785

NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)

SNV
Germline

Chr15:48415588

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA017493

rs_149062442

10 SubmittersRCV000522146 RCV000631962 RCV000767117 RCV001188432 RCV002288522 RCV002482916

NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)

SNV
Germline

Chr15:48411295

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA017685

rs_193922244

6 SubmittersRCV000029792 RCV000252734 RCV000427863 RCV000777720 RCV001306947

NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)

SNV
Germline

Chr15:48644687

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017720

rs_193922245

7 SubmittersRCV000181490 RCV000231311 RCV000763972 RCV001177079 RCV002281720 RCV003996127

NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)

SNV
Germline

Chr15:48411104

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA017797

rs_363847

16 SubmittersRCV000029795 RCV000154577 RCV000233059 RCV000270046 RCV000271998 RCV000251299 RCV000305317 RCV000386370 RCV000366578 RCV001727517 RCV004541023

NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)

SNV
Germline

Chr15:48490013

Pathogenic/Likely pathogenic

Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA013513

rs_397514558

11 SubmittersRCV000032871 RCV000172857 RCV000548224 RCV000726909 RCV001186221 RCV001192805

NM_000138.5(FBN1):c.8226+1G>T

SNV
Germline

Chr15:48412568

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome

Criteria Provided
Single Submitter

CA017633

rs_398122833

2 SubmittersRCV001386016 RCV000033243

NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr15:48520755

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011893

rs_397515753

2 SubmittersRCV001387167 RCV000035113

NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)

SNV
Germline

Chr15:48516318

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA012019

rs_397515754

1 SubmittersRCV000035114

NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)

SNV
Germline

Chr15:48520711

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA011950

rs_397515755

1 SubmittersRCV000035115

NM_000138.5(FBN1):c.1148-2A>G

SNV
Germline

Chr15:48516364

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011982

rs_397515756

4 SubmittersRCV000480005 RCV000780240 RCV001852705 RCV000035116

NM_000138.5(FBN1):c.1468+5G>A

SNV
Germline

Chr15:48515382

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA012192

rs_397515757

13 SubmittersRCV000035117 RCV000181432 RCV000251716 RCV000515263 RCV000631905 RCV003226174

NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)

SNV
Germline

Chr15:48513591

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012230

rs_113812345

9 SubmittersRCV000035118 RCV000524496 RCV000181420 RCV000506581 RCV002310640

NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)

SNV
Germline

Chr15:48510157

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012313

rs_397515759

2 SubmittersRCV001384755 RCV000035121

NM_000138.5(FBN1):c.164+5A>G

SNV
Germline

Chr15:48644601

Conflicting classifications of pathogenicity

not specified
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA012387

rs_397515760

4 SubmittersRCV000035122 RCV000763971 RCV000796432 RCV001178635

NM_000138.5(FBN1):c.165-7G>A

SNV
Germline

Chr15:48613099

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA012423

rs_397515761

4 SubmittersRCV001185754 RCV001494201 RCV003996183 RCV000035123

NM_000138.5(FBN1):c.1837+1G>T

SNV
Germline

Chr15:48508581

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012573

rs_397515762

2 SubmittersRCV003764661 RCV000035126

NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)

SNV
Germline

Chr15:48505139

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Connective tissue disorder
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA012592

rs_397515764

9 SubmittersRCV000035128 RCV000459707 RCV000493016 RCV000663503 RCV002277117 RCV002307372 RCV002313726

NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)

SNV
Germline

Chr15:48613073

Pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial ectopia lentis

Criteria Provided
Multiple Submitters
No Conflicts

CA012607

rs_25403

11 SubmittersRCV000035129 RCV000493952 RCV000697256 RCV002313727 RCV002482953 RCV003114211

NM_000138.5(FBN1):c.185G>A (p.Arg62His)

SNV
Germline

Chr15:48613072

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Congenital aneurysm of ascending aorta
Acute aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA012618

rs_145942328

12 SubmittersRCV000035130 RCV000757273 RCV000755193 RCV000781355 RCV000777703 RCV001046446

NM_000138.5(FBN1):c.2175T>C (p.Asn725=)

SNV
Germline

Chr15:48497384

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Marfan syndrome
Stiff skin syndrome
Acromicric dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012841

rs_140606

10 SubmittersRCV000035132 RCV000245903 RCV000278611 RCV000319536 RCV000292591 RCV000362638 RCV000373239 RCV000332480 RCV000556783 RCV000659516 RCV001531828

NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)

SNV
Germline

Chr15:48497317

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012895

rs_397515765

4 SubmittersRCV000587001 RCV001227932 RCV000035134

NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)

SNV
Germline

Chr15:48496178

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA012967

rs_397515766

4 SubmittersRCV000035135 RCV003162296 RCV002254906

NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)

SNV
Germline

Chr15:48613018

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012984

rs_397515767

4 SubmittersRCV002453294 RCV001852706 RCV000035136

NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter)

SNV
Germline

Chr15:48496112

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA012993

rs_397515768

1 SubmittersRCV000035137

NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)

SNV
Germline

Chr15:48495561

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013074

rs_397515770

1 SubmittersRCV000035139

NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)

SNV
Germline

Chr15:48495560

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013083

rs_397515771

1 SubmittersRCV000035140

NM_000138.5(FBN1):c.247+1G>A

SNV
Germline

Chr15:48613009

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013099

rs_25404

7 SubmittersRCV000181642 RCV000526514 RCV000770680 RCV000035141

NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)

SNV
Germline

Chr15:48495520

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013135

rs_397515773

1 SubmittersRCV000035143

NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)

SNV
Germline

Chr15:48495519

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013145

rs_397515774

3 SubmittersRCV000697797 RCV002426546 RCV000035144

NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)

SNV
Germline

Chr15:48495513

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013156

rs_397515775

5 SubmittersRCV000035145 RCV000427032 RCV001215995

NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)

SNV
Germline

Chr15:48495512

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013163

rs_397515776

2 SubmittersRCV003764663 RCV000035146

NM_000138.5(FBN1):c.2855-1G>A

SNV
Germline

Chr15:48490079

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013445

rs_112202622

1 SubmittersRCV000035152

NM_000138.5(FBN1):c.2895G>A (p.Glu965=)

SNV
Germline

Chr15:48490038

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Stiff skin syndrome
Geleophysic dysplasia
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013504

rs_140591

12 SubmittersRCV000035154 RCV000227421 RCV000297968 RCV000314502 RCV000362108 RCV000310979 RCV000350683 RCV000356235 RCV000406637 RCV001311041

NM_000138.5(FBN1):c.2927G>A (p.Arg976His)

SNV
Germline

Chr15:48490006

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA013533

rs_140954477

13 SubmittersRCV000035155 RCV000148497 RCV000528908 RCV000588311 RCV000777744 RCV002277119 RCV004737171

NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)

SNV
Germline

Chr15:48610775

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA013619

rs_397515782

1 SubmittersRCV000035157

NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)

SNV
Germline

Chr15:48489921

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013641

rs_397515784

6 SubmittersRCV000627218 RCV000610725 RCV001852707 RCV000035159

NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr)

SNV
Germline

Chr15:48488412

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013837

rs_397515786

7 SubmittersRCV000531789 RCV001564104 RCV000035163

NM_000138.5(FBN1):c.3337+1G>A

SNV
Germline

Chr15:48488112

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013972

rs_397515789

4 SubmittersRCV003764664 RCV000035167

NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)

SNV
Germline

Chr15:48487383

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014058

rs_397515790

1 SubmittersRCV000035168

NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)

SNV
Germline

Chr15:48487362

Pathogenic/Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014085

rs_397515791

2 SubmittersRCV000035169

NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)

SNV
Germline

Chr15:48487352

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA014108

rs_140396599

11 SubmittersRCV000035171 RCV000320608 RCV000269509 RCV000308253 RCV000314068 RCV000364769 RCV000371111 RCV000390665 RCV000632032 RCV001703451 RCV004541071

NM_000138.5(FBN1):c.3463+1G>T

SNV
Germline

Chr15:48487311

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014135

rs_397515792

1 SubmittersRCV000035173

NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)

SNV
Germline

Chr15:48487150

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA014243

rs_200125037

8 SubmittersRCV000035175 RCV000587741 RCV000659527 RCV000631923 RCV001170779

NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)

SNV
Germline

Chr15:48487075

Likely pathogenic

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome

Reviewed By Expert Panel

CA014319

rs_397515793

5 SubmittersRCV000035177 RCV001798073 RCV002513351 RCV004577944 RCV004776270

NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)

SNV
Germline

Chr15:48600213

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA014457

rs_397515794

4 SubmittersRCV000035178 RCV002514148 RCV003224116 RCV004724760

NM_000138.5(FBN1):c.378A>G (p.Gly126=)

SNV
Germline

Chr15:48600203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014543

rs_149611106

6 SubmittersRCV000035180 RCV000632036 RCV001188103 RCV001636618 RCV003996187

NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)

SNV
Germline

Chr15:48481771

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014592

rs_397515796

2 SubmittersRCV001055721 RCV000035181

NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)

SNV
Germline

Chr15:48481733

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014615

rs_397515797

3 SubmittersRCV000181498 RCV001852709 RCV000035182

NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)

SNV
Germline

Chr15:48474614

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA014688

rs_191989961

10 SubmittersRCV000035184 RCV001036694 RCV001180858 RCV001839446 RCV002482954 RCV004528166

NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)

SNV
Germline

Chr15:48474599

Pathogenic/Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014696

rs_397515798

2 SubmittersRCV000035185

NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)

SNV
Germline

Chr15:48474567

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014710

rs_397515799

1 SubmittersRCV000035186

NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)

SNV
Germline

Chr15:48474359

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA014768

rs_370923981

4 SubmittersRCV001343735 RCV003528139 RCV003996188 RCV000035187

NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)

SNV
Germline

Chr15:48474305

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014815

rs_397515801

1 SubmittersRCV000035189

NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)

SNV
Germline

Chr15:48472665

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Geleophysic dysplasia 2
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014867

rs_397515802

7 SubmittersRCV000684806 RCV001582508 RCV002326721 RCV003483448 RCV000035190

NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)

SNV
Germline

Chr15:48472628

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014905

rs_397515804

5 SubmittersRCV000631934 RCV000035193

NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)

SNV
Germline

Chr15:48472617

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Congenital aneurysm of ascending aorta
Acute aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Geleophysic dysplasia
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome

Criteria Provided
Conflicting Classifications

CA014918

rs_201273753

17 SubmittersRCV000035194 RCV000161118 RCV000226865 RCV000586163 RCV000755199 RCV000765222 RCV000771903 RCV001121321 RCV001121322 RCV001121323 RCV001121324 RCV001116398

NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)

SNV
Germline

Chr15:48472581

Conflicting classifications of pathogenicity

not specified
8 conditions
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Acromicric dysplasia
Stiff skin syndrome
Geleophysic dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014927

rs_377338217

10 SubmittersRCV000035195 RCV000515216 RCV000663715 RCV000536927 RCV000770669 RCV001119299 RCV001119300 RCV001119301 RCV001121320 RCV001121319 RCV001711363

NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)

SNV
Germline

Chr15:48470726

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015004

rs_397515805

3 SubmittersRCV000035196 RCV001170771

NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)

SNV
Germline

Chr15:48470756

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA014977

rs_397515806

5 SubmittersRCV000537855 RCV000770668 RCV001537866 RCV000035197

NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)

SNV
Germline

Chr15:48470726

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA015012

rs_397515805

3 SubmittersRCV000035199 RCV003485528 RCV004797771

NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)

SNV
Germline

Chr15:48470687

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA015037

rs_397515808

2 SubmittersRCV000035200 RCV000610340

NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)

SNV
Germline

Chr15:48468489

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015141

rs_397515810

3 SubmittersRCV000538495 RCV000035203

NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)

SNV
Germline

Chr15:48468463

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015175

rs_397515811

3 SubmittersRCV001213084 RCV004619194 RCV000035204

NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)

SNV
Germline

Chr15:48468427

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

CA015204

rs_397515812

9 SubmittersRCV000035205 RCV000579083 RCV000539432 RCV000770665 RCV001374850

NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)

SNV
Germline

Chr15:48468070

Pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015241

rs_111231312

9 SubmittersRCV000035206 RCV000181528 RCV000524500 RCV002310641

NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)

SNV
Germline

Chr15:48465856

Conflicting classifications of pathogenicity

not specified
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA015412

rs_148888513

9 SubmittersRCV000035210 RCV000515425 RCV000632070 RCV000777948 RCV001374849 RCV001703452 RCV002277122

NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)

SNV
Germline

Chr15:48465825

Pathogenic/Likely pathogenic

Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome 2, dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA015420

rs_267606798

3 SubmittersRCV000017937 RCV000035211 RCV003298043

NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)

SNV
Germline

Chr15:48465573

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA015476

rs_397515814

2 SubmittersRCV000035213 RCV000483918

NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)

SNV
Germline

Chr15:48596328

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015483

rs_113905529

7 SubmittersRCV000484323 RCV000810295 RCV001170329 RCV001374823 RCV000035214

NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)

SNV
Germline

Chr15:48465568

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015500

rs_397515816

4 SubmittersRCV002513353 RCV000035216

NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)

SNV
Germline

Chr15:48464009

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA015509

rs_397515817

4 SubmittersRCV000035217 RCV001222442 RCV004795951

NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)

SNV
Germline

Chr15:48596324

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015519

rs_397515818

1 SubmittersRCV000035218

NM_000138.5(FBN1):c.5066-1G>C

SNV
Germline

Chr15:48463241

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015592

rs_397515819

1 SubmittersRCV000035219

NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)

SNV
Germline

Chr15:48460291

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015718

rs_397515820

1 SubmittersRCV000035221

NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)

SNV
Germline

Chr15:48596292

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015756

rs_363853

1 SubmittersRCV000035222

NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)

SNV
Germline

Chr15:48456691

Pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015774

rs_113249837

9 SubmittersRCV000035224 RCV000181541 RCV000684816 RCV002310642

NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)

SNV
Germline

Chr15:48452670

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015808

rs_397515821

3 SubmittersRCV001224439 RCV002345270 RCV000035225

NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)

SNV
Germline

Chr15:48452603

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015839

rs_111929350

4 SubmittersRCV000181545 RCV001384079 RCV000035227

NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)

SNV
Germline

Chr15:48452595

Likely pathogenic

Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015847

rs_397515823

4 SubmittersRCV000035228 RCV000588088 RCV001798075

NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)

SNV
Germline

Chr15:48446775

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015987

rs_397515824

3 SubmittersRCV001852711 RCV002470727

NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)

SNV
Germline

Chr15:48448851

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA015911

rs_113086760

2 SubmittersRCV001852712 RCV000035230

NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)

SNV
Germline

Chr15:48446773

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA015998

rs_397515826

1 SubmittersRCV000035232

NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)

SNV
Germline

Chr15:48446747

Likely pathogenic

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Reviewed By Expert Panel

CA016026

rs_397515827

4 SubmittersRCV000781368 RCV001852713 RCV000035233

NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)

SNV
Germline

Chr15:48445430

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016131

rs_363807

5 SubmittersRCV000181551 RCV001852714 RCV000035235

NM_000138.5(FBN1):c.5788+5G>A

SNV
Germline

Chr15:48446701

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
7 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
See cases
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016065

rs_193922219

19 SubmittersRCV000035236 RCV000181550 RCV000415118 RCV000684778 RCV000781375 RCV001170536 RCV002287351 RCV004534734

NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)

SNV
Germline

Chr15:48445453

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016110

rs_397515828

3 SubmittersRCV001384076 RCV000035237

NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)

SNV
Germline

Chr15:48445424

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016139

rs_397515829

3 SubmittersRCV000035238 RCV004821968

NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)

SNV
Germline

Chr15:48441765

Pathogenic/Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016237

rs_397515830

2 SubmittersRCV000035239

NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)

SNV
Germline

Chr15:48437792

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016326

rs_397515831

1 SubmittersRCV000035240

NM_000138.5(FBN1):c.6379+1G>A

SNV
Germline

Chr15:48437321

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016380

rs_397515833

3 SubmittersRCV001852715 RCV000035242

NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr15:48537704

Pathogenic

Marfan syndrome
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Progeroid and marfanoid aspect-lipodystrophy syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016459

rs_111687884

9 SubmittersRCV000035243 RCV000507433 RCV000627747 RCV001197886 RCV002223765 RCV002310643

NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)

SNV
Germline

Chr15:48437011

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA016465

rs_113080385

6 SubmittersRCV000631937 RCV000995545 RCV002313728

NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)

SNV
Germline

Chr15:48432975

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016590

rs_397515836

1 SubmittersRCV000035248

NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)

SNV
Germline

Chr15:48432947

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016623

rs_113001196

11 SubmittersRCV000035250 RCV000181574 RCV000701161 RCV000999751 RCV001192803 RCV001374837 RCV004018736

NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)

SNV
Germline

Chr15:48432924

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Weill-Marchesani syndrome
Marfan syndrome
Geleophysic dysplasia
Acromicric dysplasia
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA016640

rs_363824

15 SubmittersRCV000035251 RCV000252112 RCV000267077 RCV000322080 RCV000325710 RCV000376729 RCV000380286 RCV000337285 RCV000755265 RCV001082294

NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)

SNV
Germline

Chr15:48430701

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016768

rs_397515840

1 SubmittersRCV000035256

NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)

SNV
Germline

Chr15:48428423

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016837

rs_137854457

1 SubmittersRCV000035259

NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)

SNV
Germline

Chr15:48427677

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017000

rs_397515845

2 SubmittersRCV000035264

NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)

SNV
Germline

Chr15:48427603

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017045

rs_397515847

3 SubmittersRCV000780247 RCV001050817 RCV000035266

NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)

SNV
Germline

Chr15:48427591

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA017052

rs_397515848

12 SubmittersRCV000035267 RCV000687004 RCV004782027 RCV000623939 RCV002371819

NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)

SNV
Germline

Chr15:48425476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017165

rs_146166400

9 SubmittersRCV000035270 RCV000659578 RCV000756148 RCV000770658 RCV001078925

NM_000138.5(FBN1):c.7453+1G>T

SNV
Germline

Chr15:48425368

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017211

rs_397515851

1 SubmittersRCV000035271

NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)

SNV
Germline

Chr15:48421677

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017263

rs_397515853

1 SubmittersRCV000035273

NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)

SNV
Germline

Chr15:48421651

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017296

rs_397515854

9 SubmittersRCV000181609 RCV000586498 RCV000698696 RCV002390140 RCV000035274

NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)

SNV
Germline

Chr15:48415735

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA017420

rs_141133182

14 SubmittersRCV000035279 RCV000154182 RCV000464816 RCV000765219 RCV001184743

NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)

SNV
Germline

Chr15:48415695

Pathogenic

not specified
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA017451

rs_111856492

4 SubmittersRCV000035281 RCV000663992 RCV002513354

NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)

SNV
Germline

Chr15:48415632

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017477

rs_397515859

3 SubmittersRCV000035283 RCV000181621

NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)

SNV
Germline

Chr15:48412724

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Acromicric dysplasia
Geleophysic dysplasia
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA017540

rs_145105768

8 SubmittersRCV000035284 RCV000181626 RCV000280634 RCV000284299 RCV000338124 RCV000372736 RCV000397502 RCV000400824 RCV001213083

NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)

SNV
Germline

Chr15:48411339

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017666

rs_397515861

1 SubmittersRCV000035287

NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)

SNV
Germline

Chr15:48411228

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Reviewed By Expert Panel

CA017709

rs_397515863

4 SubmittersRCV000035289 RCV000631997 RCV000844629

NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)

SNV
Germline

Chr15:48411123

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017783

rs_397515864

1 SubmittersRCV000035291

NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)

SNV
Germline

Chr15:48411006

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA017835

rs_397515865

1 SubmittersRCV000035292

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
Thoracic aortic dissection
Loeys-Dietz syndrome
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

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

NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter)

SNV
Not provided

Chr14:74551108

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA286515

rs_137854855

1 SubmittersRCV000114808

NM_000138.5(FBN1):c.385T>G (p.Cys129Gly)

SNV
Not provided

Chr15:48600196

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA014604

rs_199474693

1 SubmittersRCV000114817

NM_000138.5(FBN1):c.-176A>T

SNV
Germline

Chr15:48644945

Conflicting classifications of pathogenicity

not specified
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Weill-Marchesani syndrome
Stiff skin syndrome

Criteria Provided
Conflicting Classifications

CA012556

rs_560004254

2 SubmittersRCV000124992 RCV000268782 RCV000264869 RCV000300292 RCV000328495 RCV000324750 RCV000359548 RCV000360793

NM_000138.5(FBN1):c.3590-8T>C

SNV
Germline

Chr15:48485504

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Stiff skin syndrome
Weill-Marchesani syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA014339

rs_140600

6 SubmittersRCV000125005 RCV000463524 RCV000777979 RCV001116603 RCV001116605 RCV001116600 RCV001116601 RCV001116602 RCV001116604 RCV004542938

NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)

SNV
Germline

Chr15:48513641

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012213

rs_587782944

4 SubmittersRCV000143890 RCV001201373

NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)

SNV
Germline

Chr15:48472574

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Geleophysic dysplasia
MASS syndrome
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Acromicric dysplasia
Ectopia lentis
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA014944

rs_587782945

7 SubmittersRCV000143892 RCV000181517 RCV000381005 RCV000397810 RCV000298555 RCV000302074 RCV000405079 RCV000291329 RCV000346355 RCV000818523

NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)

SNV
Germline

Chr15:48446711

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA016047

rs_587782947

1 SubmittersRCV000143894

NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)

SNV
Germline

Chr15:48411085

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017803

rs_587782948

4 SubmittersRCV000143895 RCV002408641 RCV000627243

NM_017617.5(NOTCH1):c.3901+3G>A

SNV
Germline

Chr9:136506713

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Adams-Oliver syndrome 5
Condition: not provided
Aortic valve disease 1

Criteria Provided
Conflicting Classifications

CA345868

rs_373113999

7 SubmittersRCV000143940 RCV000143941 RCV000660160 RCV000864876 RCV001719910 RCV002269926

NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)

SNV
Germline

Chr3:30672168

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020563

rs_148665451

9 SubmittersRCV000148892 RCV001704074 RCV000987136 RCV003905278 RCV000864105

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

SNV
Germline

Chr3:30691552

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020746

rs_112215250

16 SubmittersRCV000152014 RCV000239196 RCV002277295 RCV000587520 RCV000680614 RCV000148891 RCV000241715 RCV000337404 RCV001094793 RCV003935259

NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)

SNV
Germline

Chr15:48411112

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA017789

rs_376933421

5 SubmittersRCV000148490 RCV001189650 RCV003764895 RCV004782251

NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)

SNV
Germline

Chr15:48412714

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017551

rs_371375126

6 SubmittersRCV000148495 RCV001804856 RCV001040428 RCV001582618

NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)

SNV
Germline

Chr15:48415741

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

CA017414

rs_143677764

8 SubmittersRCV000552622 RCV001118561 RCV000148491 RCV000593778 RCV001118562 RCV004700472 RCV001118563 RCV001118564 RCV001118565 RCV001118566

NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)

SNV
Germline

Chr15:48421597

Conflicting classifications of pathogenicity

Marfan syndrome, incomplete
Condition: not provided
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017315

rs_369294972

8 SubmittersRCV000148496 RCV000181611 RCV002492541 RCV003998169 RCV001189181 RCV001315977

NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)

SNV
Germline

Chr15:48425443

Conflicting classifications of pathogenicity

Marfan syndrome
not specified
FBN1-related disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA017173

rs_144189837

16 SubmittersRCV000148493 RCV000181600 RCV004532665 RCV000995332 RCV001190175 RCV000794919

NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)

SNV
Germline

Chr15:48425828

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Condition: not provided
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
8 conditions

Criteria Provided
Conflicting Classifications

CA017125

rs_143863014

9 SubmittersRCV000148488 RCV000530970 RCV001117026 RCV001117027 RCV000995333 RCV001115602 RCV001115601 RCV001115603 RCV002483288

NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)

SNV
Germline

Chr15:48483859

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Congenital aneurysm of ascending aorta
Acute aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014562

rs_200283837

8 SubmittersRCV000148489 RCV000756134 RCV000755197 RCV001183242 RCV001218747

NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)

SNV
Germline

Chr15:48503844

Conflicting classifications of pathogenicity

Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA012746

rs_377621293

7 SubmittersRCV001588997 RCV002478411 RCV001177402 RCV000148498 RCV001209766

NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)

SNV
Germline

Chr15:48515510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012090

rs_139058991

8 SubmittersRCV000148499 RCV000771785 RCV000455446 RCV003328558 RCV001071912

NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)

SNV
Germline

Chr15:48520779

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Stiff skin syndrome
not specified
Condition: not provided
Marfan syndrome
Geleophysic dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA011866

rs_146726731

13 SubmittersRCV000393542 RCV000284823 RCV000315057 RCV000364336 RCV000393539 RCV000181421 RCV000588674 RCV000148500 RCV000307377 RCV000463596 RCV000659507

NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)

SNV
Germline

Chr15:48420752

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
6 conditions
8 conditions
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Thoracic aortic aneurysm or dissection
Connective tissue dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA017354

rs_727503054

28 SubmittersRCV000150696 RCV000181613 RCV000415147 RCV000515426 RCV000586322 RCV000766256 RCV000524504 RCV004782256 RCV003448975

NM_000138.5(FBN1):c.6997+4A>G

SNV
Germline

Chr15:48428342

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016901

rs_727503055

4 SubmittersRCV000150697 RCV000232266 RCV003362691 RCV004589641

NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)

SNV
Germline

Chr15:48437347

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA016350

rs_112989722

3 SubmittersRCV000156842 RCV000530465 RCV000781370

NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)

SNV
Germline

Chr15:48487118

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014263

rs_727504411

1 SubmittersRCV000154599

NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)

SNV
Germline

Chr15:48489896

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013681

rs_140593

14 SubmittersRCV000154235 RCV000181476 RCV000631914 RCV002433672

NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)

SNV
Germline

Chr15:48505106

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA012647

rs_727503057

14 SubmittersRCV000150704 RCV000524497 RCV001798467 RCV001526942 RCV001556720 RCV000767974

NM_000138.5(FBN1):c.247+10T>C

SNV
Germline

Chr15:48613000

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Acromicric dysplasia
Geleophysic dysplasia
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome

Criteria Provided
Conflicting Classifications

CA013091

rs_367618012

5 SubmittersRCV000154719 RCV000470957 RCV001117304 RCV001117309 RCV001117306 RCV001117308 RCV001117305 RCV001117307 RCV001118929

NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)

SNV
Germline

Chr15:48412715

Pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA017544

rs_200309328

10 SubmittersRCV000150695 RCV000181617 RCV000529472 RCV001002020 RCV001192914 RCV002415636

NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)

SNV
Germline

Chr15:48421982

Pathogenic

not specified
Marfan syndrome
Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Isolated thoracic aortic aneurysm
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
FBN1-related disorder

Reviewed By Expert Panel

CA017250

rs_363811

14 SubmittersRCV000154717 RCV000208039 RCV000245416 RCV000470522 RCV000766960 RCV001374810 RCV002307411 RCV004534961

NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)

SNV
Germline

Chr15:48428457

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA016813

rs_727504410

1 SubmittersRCV000154597

NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)

SNV
Germline

Chr15:48434701

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016539

rs_363821

2 SubmittersRCV000150698 RCV002514897

NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)

SNV
Germline

Chr15:48444619

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA016185

rs_727504642

4 SubmittersRCV001269653 RCV002313003 RCV003998292

NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)

SNV
Germline

Chr15:48487075

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA014329

rs_397515793

1 SubmittersRCV000156031

NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)

SNV
Germline

Chr15:48487402

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA014004

rs_727505006

9 SubmittersRCV000156427 RCV000557569 RCV000578572 RCV000770676 RCV004724937

NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)

SNV
Germline

Chr15:48489991

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013576

rs_727505110

2 SubmittersRCV000156563 RCV004819995

NM_000138.5(FBN1):c.164+2T>C

SNV
Germline

Chr15:48644604

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA012372

rs_727503058

1 SubmittersRCV000150706

NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)

SNV
Germline

Chr2:189039403

Conflicting classifications of pathogenicity

Marfan syndrome
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA346259

rs_200325397

8 SubmittersRCV000157152 RCV000356709 RCV001139304 RCV002229381 RCV001569254 RCV002313005 RCV002277314

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

SNV
Germline

Chr3:30691465

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020712

rs_727504421

6 SubmittersRCV000157520 RCV000225734 RCV000995668 RCV001042957 RCV000987137

NM_000138.5(FBN1):c.6739+2T>A

SNV
Germline

Chr15:48432864

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA016704

rs_730880107

2 SubmittersRCV000157234 RCV001850181

NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)

SNV
Germline

Chr15:48445432

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016122

rs_730880104

3 SubmittersRCV000157231 RCV001850179

NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)

SNV
Germline

Chr15:48460262

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA015728

rs_730880103

1 SubmittersRCV000157230

NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)

SNV
Germline

Chr15:48468468

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA015164

rs_730880102

4 SubmittersRCV000157229 RCV001376801 RCV003476877

NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)

SNV
Germline

Chr15:48470640

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA015083

rs_730880101

2 SubmittersRCV000157228 RCV000705056

NM_000138.5(FBN1):c.4210+1G>A

SNV
Germline

Chr15:48474254

Pathogenic/Likely pathogenic

Marfan syndrome
FBN1-related disorder
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014835

rs_730880106

5 SubmittersRCV000157233 RCV004535021 RCV001850180

NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)

SNV
Germline

Chr15:48488445

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA013806

rs_730880100

2 SubmittersRCV000157226 RCV002515046

NM_000138.5(FBN1):c.2113+2T>C

SNV
Germline

Chr15:48503785

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA012783

rs_730880105

1 SubmittersRCV000157232

NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)

SNV
Germline

Chr15:48510125

Pathogenic

Marfan syndrome
Condition: not provided
not specified
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA012342

rs_730880099

14 SubmittersRCV000157225 RCV000256026 RCV000507510 RCV000589881 RCV000631935 RCV000763358 RCV002313006 RCV003105802

NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)

SNV
Germline

Chr15:48516225

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Progeroid and marfanoid aspect-lipodystrophy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012048

rs_112645512

12 SubmittersRCV000157224 RCV000312925 RCV000791401 RCV002310720 RCV002498777 RCV004586576 RCV004783755

NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)

SNV
Germline

Chr15:48610793

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA013427

rs_730880098

1 SubmittersRCV000157223

NM_000138.5(FBN1):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:48644769

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA012702

rs_730880097

5 SubmittersRCV000157222 RCV002415683 RCV002516355 RCV004589649

NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)

SNV
Germline

Chr15:48513590

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
8 conditions
not specified
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA044927

rs_775489067

8 SubmittersRCV000201287 RCV001186227 RCV001297613 RCV001561954 RCV002505229 RCV002228779 RCV003995647

NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)

SNV
Germline

Chr15:48490003

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
FBN1-related disorder
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA013544

rs_199682686

9 SubmittersRCV000176520 RCV000230049 RCV001190471 RCV002478578 RCV004528938 RCV003995686

NM_000138.5(FBN1):c.3464-6C>T

SNV
Germline

Chr15:48487206

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014174

rs_375596551

7 SubmittersRCV000590251 RCV001184495 RCV001393044 RCV003995687

NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)

SNV
Germline

Chr15:48467939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015400

rs_794727601

5 SubmittersRCV000177927 RCV000685344 RCV003996571 RCV004800317 RCV001185487

NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)

SNV
Germline

Chr15:48444614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016193

rs_113022801

6 SubmittersRCV000178682 RCV001176082 RCV001000130 RCV001079202 RCV003996575

NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)

SNV
Germline

Chr15:48437892

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA016282

rs_375624881

5 SubmittersRCV000179081 RCV002314654 RCV002516787 RCV003996576 RCV004737284

NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)

SNV
Germline

Chr15:48415623

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA017483

rs_202240409

9 SubmittersRCV000179634 RCV000724342 RCV001180301 RCV001475865 RCV003996583 RCV004737285

NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)

SNV
Germline

Chr15:48411055

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017816

rs_371939796

5 SubmittersRCV000181637 RCV001178820 RCV001362745 RCV002485196 RCV003996701

NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)

SNV
Germline

Chr15:48411157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017745

rs_148741353

5 SubmittersRCV000726402 RCV000801911 RCV004782290 RCV002408787

NM_000138.5(FBN1):c.8226+5G>A

SNV
Germline

Chr15:48412564

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017638

rs_193922243

2 SubmittersRCV000631943 RCV001812167

NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)

SNV
Germline

Chr15:48412597

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017608

rs_794728340

5 SubmittersRCV000181709 RCV001042367 RCV001181848 RCV003996706

NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)

SNV
Germline

Chr15:48412610

Conflicting classifications of pathogenicity

not specified
Acromicric dysplasia
Marfan syndrome
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017603

rs_370096856

8 SubmittersRCV000181412 RCV000291882 RCV000295523 RCV000267742 RCV000325046 RCV000352752 RCV000382017 RCV000387427 RCV000458019 RCV003390904

NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)

SNV
Germline

Chr15:48415549

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA017529

rs_794728283

8 SubmittersRCV000181625 RCV000476927 RCV000659584 RCV000770651 RCV003987427

NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys)

SNV
Germline

Chr15:48415578

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_794728339

1 SubmittersRCV000691852

NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)

SNV
Germline

Chr15:48415582

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA017505

rs_794728281

3 SubmittersRCV000181623 RCV000553667 RCV002314685

NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)

SNV
Germline

Chr15:48415671

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017463

rs_794728280

9 SubmittersRCV000181620 RCV000586564 RCV000663995 RCV000770653 RCV002515309

NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)

SNV
Germline

Chr15:48415710

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017429

rs_794728338

2 SubmittersRCV000505745 RCV000690617

NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)

SNV
Germline

Chr15:48415755

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA017404

rs_794728337

3 SubmittersRCV000181706 RCV001206976 RCV002408788

NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)

SNV
Germline

Chr15:48420731

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017362

rs_112118237

4 SubmittersRCV000181614 RCV002408786 RCV002517773 RCV004539703

NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)

SNV
Germline

Chr15:48421633

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA017303

rs_794728276

1 SubmittersRCV000549612

NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)

SNV
Germline

Chr15:48421653

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394210

2 SubmittersRCV000788330 RCV003765120

NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)

SNV
Germline

Chr15:48421659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017269

rs_111231879

6 SubmittersRCV000181606 RCV000659580 RCV000799932 RCV002390452 RCV003114329

NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)

SNV
Germline

Chr15:48421680

Likely pathogenic

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

Reviewed By Expert Panel

CA017256

rs_794728336

5 SubmittersRCV000181705 RCV000631971 RCV001844074 RCV002314687 RCV003235103

NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)

SNV
Germline

Chr15:48421991

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017244

rs_794728272

5 SubmittersRCV000181605 RCV000470534 RCV000663960 RCV004539702

NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)

SNV
Germline

Chr15:48421993

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA017236

rs_767602851

4 SubmittersRCV000181604 RCV000536239 RCV003996698 RCV003993866

NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)

SNV
Germline

Chr15:48422023

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017230

rs_794728160

4 SubmittersRCV000181410 RCV000795593 RCV000989312

NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter)

SNV
Germline

Chr15:48425802

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017147

rs_794728271

2 SubmittersRCV000181598 RCV004017457

NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)

SNV
Germline

Chr15:48425816

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017141

rs_794728270

3 SubmittersRCV000181597 RCV001379748 RCV004804787

NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)

SNV
Germline

Chr15:48425823

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017132

rs_794728269

2 SubmittersRCV000181596 RCV003765119

NM_000138.5(FBN1):c.7205-1G>A

SNV
Germline

Chr15:48425865

Pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017097

rs_794728266

3 SubmittersRCV000181593 RCV001328430 RCV001380006

NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)

SNV
Germline

Chr15:48427646

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017025

rs_794728265

2 SubmittersRCV000181592 RCV000631981

NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)

SNV
Germline

Chr15:48427660

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA017020

rs_794728264

2 SubmittersRCV000181591 RCV003765118

NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)

SNV
Germline

Chr15:48427720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016962

rs_746127796

9 SubmittersRCV000181588 RCV000659575 RCV000631985 RCV000766957 RCV001526099

NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)

SNV
Germline

Chr15:48427723

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016952

rs_794728263

4 SubmittersRCV000181587 RCV000584375 RCV000469404 RCV003996695

NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)

SNV
Germline

Chr15:48427768

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_794728262

7 SubmittersRCV000663920 RCV000695545 RCV000781372 RCV003528148

NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)

SNV
Germline

Chr15:48428411

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA016860

rs_141868829

5 SubmittersRCV000181704 RCV000250909 RCV001183741 RCV003996705 RCV002516841

NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)

SNV
Germline

Chr15:48428426

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Marfan syndrome
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA016829

rs_770443276

10 SubmittersRCV000181583 RCV000772177 RCV000801637 RCV001262421 RCV001729433 RCV002277442

NM_000138.5(FBN1):c.6871+1G>T

SNV
Germline

Chr15:48430670

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394753

1 SubmittersRCV001038927

NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)

SNV
Germline

Chr15:48430790

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016730

rs_794728256

2 SubmittersRCV000181579 RCV001378652

NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)

SNV
Germline

Chr15:48432908

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA016658

rs_794728255

5 SubmittersRCV000181576 RCV000663893 RCV000801586 RCV002362929

NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)

SNV
Germline

Chr15:48432955

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016598

rs_794728254

2 SubmittersRCV000181573 RCV001069452

NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)

SNV
Germline

Chr15:48434711

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA016525

rs_373510719

2 SubmittersRCV000181702 RCV001062234

NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)

SNV
Germline

Chr15:48436961

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA016504

rs_794728252

5 SubmittersRCV000181570 RCV000663875 RCV003352796 RCV003765116

NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)

SNV
Germline

Chr15:48437004

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA016495

rs_794728251

8 SubmittersRCV000505798 RCV000576722 RCV000631984

NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu)

SNV
Germline

Chr15:48437008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016480

rs_794728250

4 SubmittersRCV000181568 RCV000796054 RCV001181845 RCV004700548

NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)

SNV
Germline

Chr15:48437009

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA016472

rs_76702162

6 SubmittersRCV000589021 RCV001306630 RCV003243004 RCV004776278

NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)

SNV
Germline

Chr15:48437032

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016442

rs_794728335

5 SubmittersRCV000181699 RCV000663870 RCV001060030 RCV002362930

NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)

SNV
Germline

Chr15:48437039

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016435

rs_794728249

2 SubmittersRCV000181566 RCV000820661

NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)

SNV
Germline

Chr15:48437069

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA016399

rs_794728334

13 SubmittersRCV000181698 RCV000659564 RCV000824568 RCV000768213 RCV001170531 RCV004528957 RCV004584366

NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)

SNV
Germline

Chr15:48437807

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016311

rs_794728246

2 SubmittersRCV000181562 RCV003227467

NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)

SNV
Germline

Chr15:48437912

Pathogenic

Condition: not provided
Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016275

rs_763091520

8 SubmittersRCV000181559 RCV000245533 RCV000525187 RCV000663852 RCV000769629 RCV002509285 RCV004737289

NM_000138.5(FBN1):c.6164-3C>T

SNV
Germline

Chr15:48437920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016268

rs_571365493

6 SubmittersRCV000181557 RCV000549219 RCV000777847 RCV001333241 RCV001704867

NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)

SNV
Germline

Chr15:48441832

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
FBN1-related disorder
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA016223

rs_363802

8 SubmittersRCV000756138 RCV001078729 RCV001178611 RCV001526943 RCV004725031 RCV004799191

NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)

SNV
Germline

Chr15:48444553

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA016215

rs_773204216

7 SubmittersRCV000181697 RCV000557669 RCV001182484 RCV002492804 RCV003996704

NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)

SNV
Germline

Chr15:48444660

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA016172

rs_794728242

3 SubmittersRCV000181554 RCV001852282 RCV004619214

NM_000138.5(FBN1):c.5917+3A>G

SNV
Germline

Chr15:48445373

Conflicting classifications of pathogenicity

not specified
Geleophysic dysplasia
Marfan syndrome
Ectopia lentis
Stiff skin syndrome
Weill-Marchesani syndrome
MASS syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA016165

rs_202158568

9 SubmittersRCV000181407 RCV000271534 RCV000270358 RCV000311237 RCV000322623 RCV000368202 RCV000328941 RCV000362544 RCV000389993 RCV000688484 RCV004737288

NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr)

SNV
Germline

Chr15:48445492

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016083

rs_794728240

2 SubmittersRCV000181552 RCV001230591

NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)

SNV
Germline

Chr15:48446768

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016007

rs_794728333

7 SubmittersRCV000181696 RCV000253306 RCV000803899 RCV000663811

NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)

SNV
Germline

Chr15:48446795

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015955

rs_794728237

4 SubmittersRCV000181547 RCV000556126 RCV000663808

NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)

SNV
Germline

Chr15:48452594

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA015860

rs_78970689

3 SubmittersRCV000181546 RCV000632002

NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)

SNV
Germline

Chr15:48452676

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015799

rs_761857514

6 SubmittersRCV000587722 RCV000663784 RCV000181543 RCV000468318 RCV002314682

NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter)

SNV
Germline

Chr15:48463098

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Single Submitter

CA015708

rs_794728234

2 SubmittersRCV000181539 RCV000663767

NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter)

SNV
Germline

Chr15:48463209

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015630

rs_368979510

2 SubmittersRCV000181538 RCV000804754

NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)

SNV
Germline

Chr15:48465580

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015467

rs_140630

9 SubmittersRCV000181693 RCV000631940 RCV000663756 RCV000780237 RCV001374847 RCV002310748

NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter)

SNV
Germline

Chr15:48465622

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Single Submitter

CA015448

rs_794728231

3 SubmittersRCV000181535 RCV000663751

NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)

SNV
Germline

Chr15:48467958

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA015377

rs_776625874

11 SubmittersRCV000181531 RCV000226053 RCV000586729 RCV000765220 RCV000778032 RCV003996692 RCV004539701

NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)

SNV
Germline

Chr15:48468064

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA015252

rs_794728228

9 SubmittersRCV000181529 RCV000576659 RCV000462664 RCV000588838 RCV000770664

NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)

SNV
Germline

Chr15:48468474

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015156

rs_794728225

4 SubmittersRCV000181525 RCV002245986 RCV002282007 RCV002516838

NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)

SNV
Germline

Chr15:48468502

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA015134

rs_761187818

7 SubmittersRCV000181523 RCV000659544 RCV001178818 RCV001312619 RCV002485195 RCV003996689

NM_000138.5(FBN1):c.4460-9C>A

SNV
Germline

Chr15:48468543

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA015115

rs_372753740

2 SubmittersRCV000181522 RCV002517772

NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)

SNV
Germline

Chr15:48470646

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
See cases

Criteria Provided
Conflicting Classifications

CA015077

rs_794728223

4 SubmittersRCV000181521 RCV002326983 RCV003996688 RCV004584365

NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)

SNV
Germline

Chr15:48470656

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
not specified
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA015058

rs_370161725

7 SubmittersRCV000181520 RCV000465923 RCV001178817 RCV001192802 RCV002500530 RCV003996687

NM_000138.5(FBN1):c.4337-2A>G

SNV
Germline

Chr15:48470758

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA014969

rs_794728216

3 SubmittersRCV000181506 RCV000659542 RCV002314681

NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)

SNV
Germline

Chr15:48472551

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014954

rs_794728221

4 SubmittersRCV000181518 RCV001852281 RCV002245985

NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)

SNV
Germline

Chr15:48474255

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014849

rs_794728220

2 SubmittersRCV000181512 RCV001852280

NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)

SNV
Germline

Chr15:48474315

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014788

rs_775543440

7 SubmittersRCV001170774 RCV001341819 RCV001704866 RCV002485194 RCV003996686

NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)

SNV
Germline

Chr15:48474369

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014760

rs_763449629

9 SubmittersRCV000181508 RCV000588449 RCV000663695 RCV000770671 RCV001224814 RCV004798800

NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)

SNV
Germline

Chr15:48474371

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014752

rs_794728217

2 SubmittersRCV000181507 RCV001852279

NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter)

SNV
Germline

Chr15:48474565

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014724

rs_201058219

2 SubmittersRCV000181504 RCV004796072

NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp)

SNV
Germline

Chr15:48474640

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397741

1 SubmittersRCV001377000

NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)

SNV
Germline

Chr15:48474641

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014669

rs_794728331

3 SubmittersRCV000181692 RCV000659535 RCV000706621

NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)

SNV
Germline

Chr15:48483818

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014572

rs_794728210

3 SubmittersRCV000181496 RCV001253501 RCV002516837

NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)

SNV
Germline

Chr15:48485374

Pathogenic

Condition: not provided
Marfan syndrome
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA014476

rs_794728208

14 SubmittersRCV000181493 RCV000659532 RCV000763355 RCV000808826 RCV001192801 RCV001176349

NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)

SNV
Germline

Chr15:48485490

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014349

rs_794728206

3 SubmittersRCV000181491 RCV000818040 RCV002245984

NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)

SNV
Germline

Chr15:48487312

Pathogenic/Likely pathogenic

Condition: not provided
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA014157

rs_794728204

9 SubmittersRCV000181486 RCV003147379 RCV003333037 RCV000631998 RCV002460054 RCV000781378

NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)

SNV
Germline

Chr15:48487386

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014034

rs_747189975

8 SubmittersRCV000181484 RCV000690524 RCV000781357 RCV001179626 RCV002277441 RCV002500529 RCV003996682

NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)

SNV
Germline

Chr15:48487431

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013984

rs_794728203

4 SubmittersRCV000254660 RCV001048335 RCV002310747

NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val)

SNV
Germline

Chr15:48488403

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013848

rs_794728202

2 SubmittersRCV000181480 RCV002517771

NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)

SNV
Germline

Chr15:48489913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013662

rs_794728200

6 SubmittersRCV000181475 RCV001178816 RCV003235102 RCV003996681

NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)

SNV
Germline

Chr15:48489920

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA013651

rs_564713154

5 SubmittersRCV000181474 RCV001178815 RCV002516836 RCV003996680

NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)

SNV
Germline

Chr15:48489980

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013585

rs_794728199

7 SubmittersRCV000181473 RCV000586105 RCV000549578 RCV000663591 RCV001374767 RCV002310746

NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)

SNV
Germline

Chr15:48489999

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA013568

rs_138438849

9 SubmittersRCV000659521 RCV001088772 RCV001183737 RCV001721134 RCV004537522

NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)

SNV
Germline

Chr15:48490007

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Isolated thoracic aortic aneurysm
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA013523

rs_548296552

6 SubmittersRCV000181470 RCV001057247 RCV001192951 RCV001374768 RCV003996679

NM_000138.5(FBN1):c.2861G>A (p.Arg954His)

SNV
Germline

Chr15:48490072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013484

rs_112911555

7 SubmittersRCV000181469 RCV000208533 RCV001192095 RCV001205432 RCV001797666

NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter)

SNV
Germline

Chr15:48492509

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013419

rs_794728197

2 SubmittersRCV000181467 RCV001390347

NM_000138.5(FBN1):c.2746G>A (p.Val916Met)

SNV
Germline

Chr15:48492569

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013401

rs_373644734

5 SubmittersRCV000181468 RCV000631996 RCV000780231 RCV003528145 RCV003996678

NM_000138.5(FBN1):c.2728+1G>C

SNV
Germline

Chr15:48494203

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013392

rs_794728322

3 SubmittersRCV000181678 RCV000705129 RCV002426872

NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)

SNV
Germline

Chr15:48495155

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Progeroid and marfanoid aspect-lipodystrophy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013258

rs_794728195

17 SubmittersRCV000181465 RCV000616479 RCV000663562 RCV000763356 RCV001001395 RCV000807820 RCV000780242 RCV001198804

NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)

SNV
Germline

Chr15:48495162

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013249

rs_794728194

8 SubmittersRCV000556229 RCV000663561 RCV000769644 RCV001269745

NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)

SNV
Germline

Chr15:48495173

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013240

rs_794728193

3 SubmittersRCV000181463 RCV000663560 RCV001231222

NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)

SNV
Germline

Chr15:48495204

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA013230

rs_794728329

2 SubmittersRCV000181688 RCV002516840

NM_000138.5(FBN1):c.2539+1G>A

SNV
Germline

Chr15:48495468

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013192

rs_794728192

2 SubmittersRCV000181462 RCV000631979

NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)

SNV
Germline

Chr15:48495574

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA013064

rs_201778577

8 SubmittersRCV000181461 RCV000663541 RCV000778031 RCV001852278 RCV002503704 RCV003993865

NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)

SNV
Germline

Chr15:48496213

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012956

rs_794728190

4 SubmittersRCV000605926 RCV000663528 RCV001255466 RCV000631933

NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)

SNV
Germline

Chr15:48496216

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA012946

rs_794728189

2 SubmittersRCV000181458 RCV003765115

NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)

SNV
Germline

Chr15:48497332

Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA012886

rs_794728188

4 SubmittersRCV000181457 RCV002307435 RCV002277440 RCV001171255

NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)

SNV
Germline

Chr15:48497379

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399381

3 SubmittersRCV000801677 RCV001268590 RCV004786496

NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)

SNV
Germline

Chr15:48499005

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012814

rs_794728185

5 SubmittersRCV000181453 RCV000536158 RCV000622454 RCV003323430

NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro)

SNV
Germline

Chr15:48503829

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA012772

rs_794728183

2 SubmittersRCV000181451 RCV000821004

NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)

SNV
Germline

Chr15:48508602

Pathogenic/Likely pathogenic

Condition: not provided
Familial aortopathy
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012566

rs_794728176

3 SubmittersRCV000181442 RCV001201314 RCV004017456

NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)

SNV
Germline

Chr15:48508660

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399968

3 SubmittersRCV001730582 RCV000695635 RCV003150972

NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)

SNV
Germline

Chr15:48508693

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012523

rs_794728174

2 SubmittersRCV000181440 RCV001379067

NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)

SNV
Germline

Chr15:48510064

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA012475

rs_763815231

3 SubmittersRCV000181439 RCV001063331 RCV001178814

NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)

SNV
Germline

Chr15:48510065

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012467

rs_113422242

8 SubmittersRCV000508191 RCV000663482 RCV001053575 RCV002310745 RCV000181438

NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)

SNV
Germline

Chr15:48510094

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012433

rs_794728172

2 SubmittersRCV000181437 RCV002516835

NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)

SNV
Germline

Chr15:48510169

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA012303

rs_794728171

3 SubmittersRCV000533269 RCV000181436 RCV000663472

NM_000138.5(FBN1):c.1468+2T>C

SNV
Germline

Chr15:48515385

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012180

rs_794728167

2 SubmittersRCV000181431 RCV002516834

NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)

SNV
Germline

Chr15:48515429

Pathogenic

Condition: not provided
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012151

rs_794728326

6 SubmittersRCV000181684 RCV000506419 RCV000476718 RCV000585953 RCV004017458

NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)

SNV
Germline

Chr15:48516224

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA012066

rs_368089138

5 SubmittersRCV000181427 RCV000697626 RCV001178813 RCV002500528 RCV003996674

NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)

SNV
Germline

Chr15:48516245

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA012036

rs_139968089

10 SubmittersRCV000590466 RCV000855644 RCV001079545 RCV001182507 RCV004737290

NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)

SNV
Germline

Chr15:48520659

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA011960

rs_794728325

5 SubmittersRCV000181682 RCV000231553 RCV000791430 RCV002453647

NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr15:48520716

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Isolated thoracic aortic aneurysm
not specified
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA011930

rs_794728165

16 SubmittersRCV000181424 RCV000602307 RCV000684777 RCV000457438 RCV001374819 RCV001000174 RCV001175536

NM_000138.5(FBN1):c.902G>T (p.Gly301Val)

SNV
Germline

Chr15:48526216

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA017847

rs_142888621

14 SubmittersRCV000181419 RCV000247580 RCV000289798 RCV000288772 RCV000377435 RCV000347117 RCV000407488 RCV000407491 RCV000461203 RCV000995347 RCV003224198

NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)

SNV
Germline

Chr15:48537707

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA016423

rs_794728162

8 SubmittersRCV000460503 RCV000586274 RCV001269512 RCV000663867 RCV000766239

NM_000138.5(FBN1):c.353A>G (p.His118Arg)

SNV
Germline

Chr15:48600228

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA014253

rs_765503809

6 SubmittersRCV000181646 RCV001236065 RCV001181847 RCV002492803 RCV003996702

NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)

SNV
Germline

Chr15:48610787

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
See cases
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Stiff skin syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA013493

rs_794728291

10 SubmittersRCV000181644 RCV000243821 RCV001190247 RCV002259318 RCV002252025 RCV001852286 RCV003991468 RCV004537526

NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)

SNV
Germline

Chr15:48610808

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA013275

rs_112660651

6 SubmittersRCV000181643 RCV000539344 RCV000663567 RCV002314686

NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)

SNV
Germline

Chr15:48613028

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
MASS syndrome
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA012938

rs_794728290

7 SubmittersRCV000181641 RCV000812218 RCV001535800 RCV002444730 RCV002466462 RCV002485197

NM_000138.5(FBN1):c.164+1G>A

SNV
Germline

Chr15:48644605

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012362

rs_794728213

6 SubmittersRCV000017897 RCV000181502 RCV001389970

NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)

SNV
Germline

Chr15:48644631

Conflicting classifications of pathogenicity

6 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA012118

rs_762400500

9 SubmittersRCV000414982 RCV000533830 RCV000726149 RCV001170559 RCV003996685

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
Marfan syndrome
Loeys-Dietz syndrome
Condition: not provided
Loeys-Dietz syndrome 2
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA048064

rs_768385200

10 SubmittersRCV000198358 RCV000253449 RCV000380176 RCV000323333 RCV000766907 RCV003996930 RCV004020382

NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr)

SNV
Germline

Chr15:48427602

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA350431

rs_864622754

1 SubmittersRCV001378775

NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly)

SNV
Germline

Chr15:48448884

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA347974

rs_864622676

1 SubmittersRCV000203678

NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)

SNV
Germline

Chr2:189092414

Conflicting classifications of pathogenicity

Marfan syndrome
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic type, 1
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA353678

rs_767252151

4 SubmittersRCV000208436 RCV001262877 RCV002229535 RCV002336576

NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)

SNV
Germline

Chr9:136497534

Conflicting classifications of pathogenicity

Marfan syndrome
Adams-Oliver syndrome 5
Condition: not provided
Aortic valve disease 1
Familial thoracic aortic aneurysm and aortic dissection
Adams-Oliver syndrome 5
Aortic valve disease 1
not specified

Criteria Provided
Conflicting Classifications

CA353686

rs_567909904

8 SubmittersRCV000208466 RCV001060006 RCV001509385 RCV002270023 RCV002363043 RCV002500668 RCV003401116

NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)

SNV
Germline

Chr15:48411267

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA353635

rs_869025417

1 SubmittersRCV000208125

NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)

SNV
Germline

Chr15:48412647

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA353671

rs_112642323

5 SubmittersRCV000208411 RCV002415877 RCV003128595 RCV003765345

NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)

SNV
Germline

Chr15:48420737

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA353648

rs_869025416

2 SubmittersRCV000208225 RCV001071006

NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)

SNV
Germline

Chr15:48425401

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353668

rs_869025415

2 SubmittersRCV000208392 RCV005001018

NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)

SNV
Germline

Chr15:48427630

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA353645

rs_869025414

4 SubmittersRCV000208200 RCV000802453 RCV002363041

NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)

SNV
Germline

Chr15:48430677

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA353628

rs_869025413

1 SubmittersRCV000208020

NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)

SNV
Germline

Chr15:48430722

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Reviewed By Expert Panel

CA353663

rs_869025412

4 SubmittersRCV000208376 RCV002515543 RCV003144160

NM_000138.5(FBN1):c.6739+1G>A

SNV
Germline

Chr15:48432865

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA353631

rs_869025419

2 SubmittersRCV000208077 RCV001056082

NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)

SNV
Germline

Chr15:48432911

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA353642

rs_869025411

2 SubmittersRCV000208180 RCV002363040

NM_000138.5(FBN1):c.5918-2A>G

SNV
Germline

Chr15:48444662

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353677

rs_869025418

4 SubmittersRCV000208432 RCV000532804 RCV002354586 RCV004696873

NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)

SNV
Germline

Chr15:48465791

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA353639

rs_869025408

3 SubmittersRCV000208162 RCV001170766

NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)

SNV
Germline

Chr15:48472557

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA353655

rs_869025406

3 SubmittersRCV000208295 RCV000818296

NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)

SNV
Germline

Chr15:48487093

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA051096

rs_370121450

5 SubmittersRCV000208111 RCV000799739 RCV000989326 RCV001184036

NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)

SNV
Germline

Chr15:48494237

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA353652

rs_869025405

2 SubmittersRCV000208274 RCV002426976

NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)

SNV
Germline

Chr15:48505076

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA353632

rs_869025404

1 SubmittersRCV000208087

NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)

SNV
Germline

Chr15:48610736

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA353680

rs_869025403

3 SubmittersRCV000208445 RCV000534760

NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)

SNV
Germline

Chr15:48489890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049620

rs_55831697

7 SubmittersRCV000490387 RCV000777610 RCV001061450 RCV001844089 RCV004820001

NM_000138.5(FBN1):c.8226+1G>A

SNV
Germline

Chr15:48412568

Pathogenic/Likely pathogenic

Progeroid and marfanoid aspect-lipodystrophy syndrome
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576035

rs_398122833

5 SubmittersRCV000210934 RCV000664017 RCV000631959 RCV001566353

NM_000138.5(FBN1):c.6314-15G>A

SNV
Germline

Chr15:48437402

Conflicting classifications of pathogenicity

not specified
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Acromicric dysplasia
Stiff skin syndrome
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA056545

rs_200841830

9 SubmittersRCV000216732 RCV000300200 RCV000276903 RCV000303614 RCV000343480 RCV000355096 RCV000398027 RCV000400917 RCV002054958 RCV004532755

NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)

SNV
Germline

Chr15:48513566

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA045042

rs_370575495

7 SubmittersRCV000216459 RCV001180053 RCV001296986 RCV002494568 RCV003997738

NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)

SNV
Germline

Chr15:48610775

Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10576993

rs_397515782

2 SubmittersRCV000220364

NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)

SNV
Germline

Chr15:48412618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059722

rs_552157433

6 SubmittersRCV000226999 RCV000664015 RCV001189718 RCV002286724 RCV003235151

NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)

SNV
Germline

Chr15:48412646

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Stiff skin syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059678

rs_187553035

11 SubmittersRCV000229179 RCV000270822 RCV000273444 RCV000295866 RCV000330801 RCV000387643 RCV000362980 RCV000365739 RCV000506463 RCV001706243

NM_000138.5(FBN1):c.6313+5G>A

SNV
Germline

Chr15:48437763

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583239

rs_878853688

2 SubmittersRCV000229033 RCV001559866

NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)

SNV
Germline

Chr15:48437809

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA10583240

rs_878853687

1 SubmittersRCV000234135

NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)

SNV
Germline

Chr15:48446811

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10583241

rs_878853686

3 SubmittersRCV000227015 RCV001388234 RCV002315679

NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser)

SNV
Germline

Chr15:48452603

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA10583242

rs_111929350

1 SubmittersRCV001378305

NM_000138.5(FBN1):c.5423-4G>A

SNV
Germline

Chr15:48452688

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA054949

rs_377036485

7 SubmittersRCV000277311 RCV000726081 RCV001089035 RCV001186933 RCV004541367

NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)

SNV
Germline

Chr15:48463164

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054359

rs_368287795

8 SubmittersRCV000229864 RCV000663764 RCV001189722 RCV001572135 RCV003155134

NM_000138.5(FBN1):c.5066-7C>G

SNV
Germline

Chr15:48463247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10583243

rs_377369765

5 SubmittersRCV001087425 RCV001185254 RCV000827550 RCV003488482 RCV003998705

NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter)

SNV
Germline

Chr15:48463926

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA10583244

rs_878853685

1 SubmittersRCV001382826

NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser)

SNV
Germline

Chr15:48470639

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA10583246

rs_111978932

1 SubmittersRCV001379844

NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)

SNV
Germline

Chr15:48470650

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA052995

rs_145040593

6 SubmittersRCV000297607 RCV000726078 RCV001078738 RCV001184770

NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)

SNV
Germline

Chr15:48481683

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Geleophysic dysplasia
Stiff skin syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA051715

rs_779913610

7 SubmittersRCV000246111 RCV000284767 RCV000285893 RCV000329222 RCV000336392 RCV000380304 RCV000402570 RCV000590159 RCV001088290 RCV002282068

NM_000138.5(FBN1):c.2539+10T>A

SNV
Germline

Chr15:48495459

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA10583249

rs_878853679

3 SubmittersRCV000229604 RCV000788536 RCV004532831

NM_000138.5(FBN1):c.1961-7T>C

SNV
Germline

Chr15:48503946

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA10583252

rs_878853675

6 SubmittersRCV000607743 RCV001406817 RCV001184020 RCV003998703 RCV004541366

NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)

SNV
Germline

Chr15:48505069

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA10583253

rs_878853676

2 SubmittersRCV000229819 RCV001378355

NM_000138.5(FBN1):c.1884C>T (p.Cys628=)

SNV
Germline

Chr15:48505101

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Geleophysic dysplasia

Criteria Provided
Conflicting Classifications

CA046238

rs_150421653

5 SubmittersRCV000232001 RCV001120395 RCV001120396 RCV001120104 RCV001120105 RCV001120398 RCV001120106 RCV001120397

NM_000138.5(FBN1):c.783T>C (p.Asn261=)

SNV
Germline

Chr15:48534159

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Acromicric dysplasia
Geleophysic dysplasia
Weill-Marchesani syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA059270

rs_113721547

12 SubmittersRCV000246115 RCV000252306 RCV000265635 RCV000295843 RCV000326369 RCV000348393 RCV000387961 RCV000384555 RCV001709518 RCV001088054

NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)

SNV
Germline

Chr15:48537615

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10583254

rs_878853689

2 SubmittersRCV000229926 RCV002378962

NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)

SNV
Germline

Chr15:48600147

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10583255

rs_878853682

3 SubmittersRCV000229641 RCV001843947 RCV002327102

NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)

SNV
Germline

Chr15:48434633

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Condition: not provided
Stiff skin syndrome

Criteria Provided
Conflicting Classifications

CA057010

rs_201361628

11 SubmittersRCV000245988 RCV000663879 RCV000631925 RCV001118923 RCV001118924 RCV001118925 RCV001118926 RCV001561438 RCV001118927

NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)

SNV
Germline

Chr15:48481774

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA051637

rs_140647

6 SubmittersRCV000249503 RCV001347798 RCV001191554 RCV003989507

NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)

SNV
Germline

Chr15:48487321

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA050634

rs_140890215

8 SubmittersRCV000243495 RCV001044344 RCV001184767 RCV001658158 RCV003998948 RCV003224240

NM_000138.5(FBN1):c.2113+19A>T

SNV
Germline

Chr15:48503768

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA046793

rs_541501178

3 SubmittersRCV000247865 RCV003765491

NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)

SNV
Germline

Chr15:48411118

Likely pathogenic

Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA10587783

rs_886038795

4 SubmittersRCV000253392 RCV000631975 RCV000664028

NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)

SNV
Germline

Chr15:48412646

Pathogenic

Cardiovascular phenotype
Marfan syndrome

Criteria Provided
Single Submitter

CA10587785

rs_187553035

3 SubmittersRCV000247812 RCV000664013

NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)

SNV
Germline

Chr15:48415581

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10587787

rs_886038869

4 SubmittersRCV000532950 RCV000493369 RCV002310850 RCV004594035

NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)

SNV
Germline

Chr15:48415759

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
8 conditions
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10587789

rs_111984349

8 SubmittersRCV000540250 RCV000659583 RCV000763353 RCV001374807 RCV002311119 RCV003441830

NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)

SNV
Germline

Chr15:48412606

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Condition: not provided
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA059742

rs_200231626

8 SubmittersRCV001059803 RCV001184762 RCV002503961 RCV003441827 RCV003995708 RCV004725130

NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)

SNV
Germline

Chr15:48415685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059325

rs_138621371

9 SubmittersRCV000359658 RCV000725965 RCV000770654 RCV001080597 RCV003999031

NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)

SNV
Germline

Chr15:48420798

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587791

rs_886038786

6 SubmittersRCV000480933 RCV000794952 RCV000780252 RCV002310834

NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)

SNV
Germline

Chr15:48427715

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Acromicric dysplasia
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Geleophysic dysplasia
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA057877

rs_149697299

11 SubmittersRCV000245150 RCV000269442 RCV000303029 RCV000305833 RCV000360147 RCV000360515 RCV000390288 RCV000419193 RCV000487841 RCV001086203

NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)

SNV
Germline

Chr15:48437027

Likely pathogenic

Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587800

rs_886038943

2 SubmittersRCV000246065 RCV001859450

NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)

SNV
Germline

Chr15:48428459

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10587802

rs_886038949

6 SubmittersRCV000631910 RCV000659572 RCV002310863 RCV004777642

NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)

SNV
Germline

Chr15:48444546

Likely pathogenic

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

Reviewed By Expert Panel

CA10587803

rs_886038967

6 SubmittersRCV000413845 RCV001260318 RCV002310892 RCV002518701 RCV003888667

NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)

SNV
Germline

Chr15:48434627

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587804

rs_886038976

4 SubmittersRCV000700740 RCV000663880 RCV002310907

NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)

SNV
Germline

Chr15:48444657

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA055867

rs_765878996

7 SubmittersRCV000663834 RCV001093333 RCV001183769 RCV002487161 RCV002518732

NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)

SNV
Germline

Chr15:48456687

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587814

rs_886038848

5 SubmittersRCV000253774 RCV000663780 RCV000781361 RCV003765551

NM_000138.5(FBN1):c.4935G>A (p.Val1645=)

SNV
Germline

Chr15:48465575

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA10587820

rs_886038897

4 SubmittersRCV000241785 RCV001410010 RCV000788803 RCV002245987

NM_000138.5(FBN1):c.4209A>G (p.Thr1403=)

SNV
Germline

Chr15:48474256

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA10587823

rs_886038931

2 SubmittersRCV000242111 RCV004804975

NM_000138.5(FBN1):c.4337-3A>C

SNV
Germline

Chr15:48470759

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA052645

rs_770551687

4 SubmittersRCV001179385 RCV001859451 RCV003995692

NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)

SNV
Germline

Chr15:48472556

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587827

rs_886038940

4 SubmittersRCV000521275 RCV000663716 RCV001374759 RCV002310858

NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)

SNV
Germline

Chr15:48474369

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA052073

rs_763449629

2 SubmittersRCV002310878 RCV002518700

NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)

SNV
Germline

Chr15:48487161

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA050971

rs_776667707

10 SubmittersRCV000455893 RCV000587326 RCV000818595 RCV001180575 RCV002278238 RCV002500949 RCV003995705

NM_000138.5(FBN1):c.3209-1G>C

SNV
Germline

Chr15:48488242

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10587835

rs_886038956

2 SubmittersRCV002310873 RCV003765555

NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)

SNV
Germline

Chr15:48488404

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587836

rs_886039208

3 SubmittersRCV001064425 RCV001190248

NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)

SNV
Germline

Chr15:48488487

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Marfan syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
not specified
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Connective tissue disorder
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA049873

rs_375996640

9 SubmittersRCV000253902 RCV000283744 RCV000288603 RCV000333243 RCV000341215 RCV000380751 RCV000403646 RCV000609438 RCV000617142 RCV000868279 RCV001697728 RCV002278227 RCV004535218

NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)

SNV
Germline

Chr15:48487318

Likely pathogenic

Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA10587839

rs_886038877

3 SubmittersRCV000246794 RCV000770674 RCV003476878

NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)

SNV
Germline

Chr15:48495176

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Reviewed By Expert Panel

CA10587846

rs_886039038

4 SubmittersRCV000769646 RCV001063194 RCV003476879

NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)

SNV
Germline

Chr15:48495484

Pathogenic

Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587847

rs_886038941

2 SubmittersRCV000243409 RCV003765554

NM_000138.5(FBN1):c.2343T>C (p.Cys781=)

SNV
Germline

Chr15:48496176

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA10587849

rs_199647257

3 SubmittersRCV000243636 RCV002058495 RCV003999005

NM_000138.5(FBN1):c.2127A>C (p.Ala709=)

SNV
Germline

Chr15:48499025

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA10587852

rs_886038990

6 SubmittersRCV000788227 RCV001182479 RCV001394805 RCV003995702

NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)

SNV
Germline

Chr15:48497358

Likely pathogenic

Cardiovascular phenotype
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587853

rs_794728187

2 SubmittersRCV000248573 RCV000706264

NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)

SNV
Germline

Chr15:48503807

Conflicting classifications of pathogenicity

Congenital aneurysm of ascending aorta
Acute aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA046724

rs_764827921

7 SubmittersRCV000755195 RCV000631931 RCV001184007 RCV001264433 RCV001753735 RCV003995716

NM_000138.5(FBN1):c.2094G>T (p.Pro698=)

SNV
Germline

Chr15:48503806

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Stiff skin syndrome
Acromicric dysplasia
Condition: not provided
not specified
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA046748

rs_144775475

10 SubmittersRCV000459653 RCV000777611 RCV001118567 RCV001118569 RCV001118568 RCV001118570 RCV001118571 RCV001118572 RCV001722380 RCV003330616 RCV004542960

NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)

SNV
Germline

Chr15:48516352

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA043875

rs_368737502

6 SubmittersRCV000631989 RCV001188119 RCV001660387 RCV003999026

NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)

SNV
Germline

Chr15:48508612

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10587860

rs_886038963

2 SubmittersRCV000241933 RCV004596151

NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr15:48600142

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587865

rs_886039036

2 SubmittersRCV000659502 RCV002310979

NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)

SNV
Germline

Chr15:48520677

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA10587868

rs_886039066

2 SubmittersRCV000804876 RCV002311083

NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr15:48644763

Pathogenic

Cardiovascular phenotype
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10587869

rs_886038797

4 SubmittersRCV000246054 RCV000523738 RCV001389971 RCV004535213

NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)

SNV
Germline

Chr15:48495219

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
not specified
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

CA10588587

rs_140583

10 SubmittersRCV000254863 RCV000590228 RCV000663557 RCV000810561 RCV000767971 RCV000507994 RCV000614836 RCV001374789

NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr15:48520764

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588589

rs_886039550

4 SubmittersRCV000254731 RCV001778876 RCV001798764 RCV002272198

NM_000138.5(FBN1):c.2114-2A>C

SNV
Germline

Chr15:48499040

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603342

rs_886041440

2 SubmittersRCV000380850 RCV001050524

NM_000138.5(FBN1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr15:48644768

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603351

rs_886041536

2 SubmittersRCV000362200 RCV002519049

NM_000138.5(FBN1):c.6380-2A>C

SNV
Germline

Chr15:48437079

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603438

rs_886041482

2 SubmittersRCV000315289 RCV002245989

NM_000138.5(FBN1):c.5917+1G>A

SNV
Germline

Chr15:48445375

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603448

rs_363808

2 SubmittersRCV000274273 RCV001855063

NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)

SNV
Germline

Chr15:48463966

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

CA054123

rs_141925790

11 SubmittersRCV000346591 RCV000776203 RCV000781381 RCV001079329 RCV001121216 RCV001121218 RCV001121220 RCV001121221 RCV001121217 RCV001121219

NM_000138.5(FBN1):c.1566A>T (p.Thr522=)

SNV
Germline

Chr15:48513571

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10604763

rs_531264662

4 SubmittersRCV000349694 RCV003528165 RCV003995770 RCV003765618

NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)

SNV
Germline

Chr15:48526138

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

CA060463

rs_775206410

4 SubmittersRCV000333932 RCV000687611 RCV002503992

NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)

SNV
Germline

Chr3:30672225

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 1

Criteria Provided
Conflicting Classifications

CA045456

rs_144701411

4 SubmittersRCV000263258 RCV000315631 RCV000354050 RCV004804987 RCV004527373

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

SNV
Germline

Chr3:30606577

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10616068

rs_749340193

4 SubmittersRCV000262441 RCV000353680 RCV000301197 RCV002487511 RCV004021902

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

SNV
Germline

Chr3:30606866

Conflicting classifications of pathogenicity

Marfan syndrome
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome
Condition: not provided
Diabetic retinopathy

Criteria Provided
Conflicting Classifications

CA10616073

rs_753369354

3 SubmittersRCV000274788 RCV000314596 RCV000366965 RCV004694732 RCV004021909

NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)

SNV
Germline

Chr3:30671873

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049703

rs_201560560

8 SubmittersRCV000266417 RCV000323947 RCV001171831 RCV000363353 RCV003995878

NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)

SNV
Germline

Chr3:30688457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA046683

rs_141113059

3 SubmittersRCV000311985 RCV000272154 RCV000369079

NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)

SNV
Germline

Chr3:30671804

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10618020

rs_886058304

4 SubmittersRCV000306258 RCV000400569 RCV000365458 RCV003995877

NM_003242.6(TGFBR2):c.*859G>A

SNV
Germline

Chr3:30692458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10618034

rs_548242538

1 SubmittersRCV000268242 RCV000323399 RCV000358273

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

SNV
Germline

Chr3:30693665

Conflicting classifications of pathogenicity

Marfan syndrome
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10618058

rs_566913021

2 SubmittersRCV000310536 RCV000339756 RCV000403210 RCV003437094

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

SNV
Germline

Chr3:30606513

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10618389

rs_886058297

3 SubmittersRCV000306322 RCV000342599 RCV000393157 RCV002488745 RCV004021901

NM_003242.6(TGFBR2):c.-117G>A

SNV
Germline

Chr3:30606767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10618391

rs_886058302

2 SubmittersRCV000275823 RCV000296967 RCV000354124 RCV004021908

NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)

SNV
Germline

Chr3:30671879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049716

rs_768508812

5 SubmittersRCV000266080 RCV000318801 RCV000357700 RCV003995879

NM_003242.6(TGFBR2):c.*352A>G

SNV
Germline

Chr3:30691951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10618394

rs_565524213

1 SubmittersRCV000274324 RCV000333961 RCV000388543

NM_003242.6(TGFBR2):c.*988C>T

SNV
Germline

Chr3:30692587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10618396

rs_138036906

1 SubmittersRCV000260051 RCV000319870 RCV000373416

NM_000138.5(FBN1):c.*2395G>A

SNV
Germline

Chr15:48408595

Conflicting classifications of pathogenicity

Geleophysic dysplasia
Stiff skin syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Weill-Marchesani syndrome

Criteria Provided
Conflicting Classifications

CA10636118

rs_184719603

1 SubmittersRCV000274471 RCV000287516 RCV000327277 RCV000333103 RCV000344869 RCV000378503 RCV000384154

NM_000138.5(FBN1):c.*2024A>G

SNV
Germline

Chr15:48408966

Conflicting classifications of pathogenicity

Marfan syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10636123

rs_558488257

2 SubmittersRCV000265962 RCV000313640 RCV000321072 RCV000329178 RCV000363558 RCV000380116 RCV000383738 RCV003311752

NM_000138.5(FBN1):c.*1949T>C

SNV
Germline

Chr15:48409041

Conflicting classifications of pathogenicity

Geleophysic dysplasia
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome

Criteria Provided
Conflicting Classifications

CA10636127

rs_534577080

1 SubmittersRCV000290556 RCV000303126 RCV000347450 RCV000344396 RCV000360170 RCV000391617 RCV000403156

NM_000138.5(FBN1):c.*1580G>A

SNV
Germline

Chr15:48409410

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Stiff skin syndrome
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10636134

rs_17352989

2 SubmittersRCV000291314 RCV000298828 RCV000304567 RCV000339349 RCV000392600 RCV000392595 RCV000390840 RCV002262989

NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)

SNV
Germline

Chr15:48421596

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Acromicric dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
not specified
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA058980

rs_199522781

7 SubmittersRCV000290065 RCV000297567 RCV000313030 RCV000347326 RCV000382117 RCV000396029 RCV000400646 RCV000454621 RCV000766961 RCV001081111

NM_000138.5(FBN1):c.5788+4C>A

SNV
Germline

Chr15:48446702

Conflicting classifications of pathogenicity

Ectopia lentis
Weill-Marchesani syndrome
Marfan syndrome
MASS syndrome
Geleophysic dysplasia
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA055644

rs_577301285

7 SubmittersRCV000268444 RCV000308093 RCV000309387 RCV000349101 RCV000347712 RCV000360488 RCV000396467 RCV000396460 RCV001093334 RCV003765835

NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)

SNV
Germline

Chr15:48446770

Conflicting classifications of pathogenicity

Geleophysic dysplasia
Acromicric dysplasia
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055450

rs_141219664

6 SubmittersRCV000262510 RCV000302528 RCV000320176 RCV000333041 RCV000359544 RCV000372546 RCV000388834 RCV001496138 RCV002292524

NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)

SNV
Germline

Chr15:48483916

Conflicting classifications of pathogenicity

Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051501

rs_568625812

6 SubmittersRCV000296357 RCV000310061 RCV000350260 RCV000351320 RCV000375658 RCV000403503 RCV000404390 RCV001523627 RCV004808681

NM_000138.5(FBN1):c.3337+11G>A

SNV
Germline

Chr15:48488102

Conflicting classifications of pathogenicity

Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Geleophysic dysplasia

Criteria Provided
Conflicting Classifications

CA050323

rs_368726848

4 SubmittersRCV000314739 RCV000349919 RCV000343941 RCV000439260 RCV000395417 RCV000405694 RCV002056464 RCV000358194 RCV000404829

NM_000138.5(FBN1):c.723G>A (p.Thr241=)

SNV
Germline

Chr15:48537624

Conflicting classifications of pathogenicity

Acromicric dysplasia
Stiff skin syndrome
Marfan syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA058155

rs_757264206

5 SubmittersRCV000280636 RCV000298208 RCV000302539 RCV000337778 RCV000386712 RCV000391098 RCV000405430 RCV001246310 RCV004537783

NM_000138.5(FBN1):c.538+4A>G

SNV
Germline

Chr15:48596279

Conflicting classifications of pathogenicity

Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Weill-Marchesani syndrome
Geleophysic dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA054803

rs_375721252

10 SubmittersRCV000282551 RCV000286081 RCV000331838 RCV000335275 RCV000339135 RCV000373450 RCV000393946 RCV000467366 RCV000421497 RCV001579785 RCV002278422

NM_000138.5(FBN1):c.396T>C (p.Asp132=)

SNV
Germline

Chr15:48600185

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Stiff skin syndrome
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA051853

rs_147481356

5 SubmittersRCV000260867 RCV000286834 RCV000319459 RCV000323069 RCV000323098 RCV000353385 RCV000380093 RCV000869071

NM_000138.5(FBN1):c.*2398G>T

SNV
Germline

Chr15:48408592

Conflicting classifications of pathogenicity

Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia

Criteria Provided
Conflicting Classifications

CA10642073

rs_377530465

1 SubmittersRCV000261507 RCV000262543 RCV000302246 RCV000341826 RCV000353786 RCV000359661 RCV000403235

NM_000138.5(FBN1):c.*1720C>T

SNV
Germline

Chr15:48409270

Conflicting classifications of pathogenicity

Geleophysic dysplasia
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

CA10642079

rs_557301792

1 SubmittersRCV000299938 RCV000307266 RCV000312963 RCV000338538 RCV000370096 RCV000405412 RCV000407356

NM_000138.5(FBN1):c.*1619T>A

SNV
Germline

Chr15:48409371

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

CA10642081

rs_374297351

1 SubmittersRCV000261642 RCV000287964 RCV000319132 RCV000345094 RCV000351126 RCV000385314 RCV000389250

NM_000138.5(FBN1):c.*1484C>T

SNV
Germline

Chr15:48409506

Conflicting classifications of pathogenicity

Acromicric dysplasia
Geleophysic dysplasia
Marfan syndrome
Weill-Marchesani syndrome
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10642083

rs_533502309

1 SubmittersRCV000277465 RCV000302470 RCV000308119 RCV000332570 RCV000362775 RCV000366545 RCV000368733

NM_000138.5(FBN1):c.*1325T>C

SNV
Germline

Chr15:48409665

Conflicting classifications of pathogenicity

Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10642086

rs_569152308

1 SubmittersRCV000269334 RCV000273266 RCV000293993 RCV000330382 RCV000328336 RCV000382883 RCV000388211

NM_000138.5(FBN1):c.*764G>A

SNV
Germline

Chr15:48410226

Conflicting classifications of pathogenicity

Weill-Marchesani syndrome
Geleophysic dysplasia
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

CA10642088

rs_55717426

1 SubmittersRCV000268385 RCV000291233 RCV000317726 RCV000321623 RCV000325148 RCV000381899 RCV000383236

NM_000138.5(FBN1):c.8310C>T (p.His2770=)

SNV
Germline

Chr15:48411296

Conflicting classifications of pathogenicity

Geleophysic dysplasia
Marfan syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA059919

rs_112189340

11 SubmittersRCV000304890 RCV000308744 RCV000314675 RCV000345706 RCV000368154 RCV000399142 RCV000399944 RCV000534883 RCV001083530 RCV002278421 RCV004737437

NM_000138.5(FBN1):c.5672-15C>G

SNV
Germline

Chr15:48446837

Conflicting classifications of pathogenicity

MASS syndrome
Stiff skin syndrome
Acromicric dysplasia
Marfan syndrome
Ectopia lentis
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Geleophysic dysplasia
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA055379

rs_776163620

5 SubmittersRCV000291988 RCV000292177 RCV000304842 RCV000343242 RCV000344528 RCV000349467 RCV000383089 RCV000405016 RCV000840665 RCV003765836

NM_000138.5(FBN1):c.1837+9T>C

SNV
Germline

Chr15:48508573

Conflicting classifications of pathogenicity

Acromicric dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
not specified
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA046073

rs_56102085

5 SubmittersRCV000329612 RCV000261680 RCV000314567 RCV000356505 RCV000369312 RCV000439166 RCV000317788 RCV000372486 RCV000873938 RCV004537782

NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)

SNV
Germline

Chr15:48613034

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Acromicric dysplasia
Marfan syndrome
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10642094

rs_886051252

3 SubmittersRCV000265294 RCV000300622 RCV000320428 RCV000354296 RCV000360782 RCV000355433 RCV000402469 RCV003765837

NM_000138.5(FBN1):c.*1298C>G

SNV
Germline

Chr15:48409692

Conflicting classifications of pathogenicity

Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Marfan syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
Acromicric dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646174

rs_143446014

2 SubmittersRCV000281194 RCV000285339 RCV000309827 RCV000336286 RCV000340264 RCV000390296 RCV000375598 RCV002262990

NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)

SNV
Germline

Chr15:48412593

Conflicting classifications of pathogenicity

Stiff skin syndrome
Marfan syndrome
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059755

rs_113904256

6 SubmittersRCV000263983 RCV000299351 RCV000314721 RCV000321428 RCV000356562 RCV000353296 RCV000378614 RCV000868868 RCV001718651

NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)

SNV
Germline

Chr15:48415576

Conflicting classifications of pathogenicity

Marfan syndrome
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Geleophysic dysplasia
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

CA10646196

rs_886051244

2 SubmittersRCV000276241 RCV000311417 RCV000333625 RCV000353238 RCV000363876 RCV000368473 RCV000400012

NM_000138.5(FBN1):c.2979C>T (p.Cys993=)

SNV
Germline

Chr15:48489954

Conflicting classifications of pathogenicity

Geleophysic dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Acromicric dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA049502

rs_150126098

6 SubmittersRCV000279330 RCV000315004 RCV000336599 RCV000349848 RCV000392604 RCV000402736 RCV000406376 RCV001213911 RCV001579899

NM_000138.5(FBN1):c.1602T>C (p.Cys534=)

SNV
Germline

Chr15:48510156

Conflicting classifications of pathogenicity

Weill-Marchesani syndrome
Ectopia lentis
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Stiff skin syndrome
Marfan syndrome
MASS syndrome
Acromicric dysplasia
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045274

rs_377386372

7 SubmittersRCV000259442 RCV000301280 RCV000305364 RCV000313942 RCV000350131 RCV000356074 RCV000392073 RCV000405863 RCV000600794 RCV000632069 RCV001535413

NM_000138.5(FBN1):c.*2091G>A

SNV
Germline

Chr15:48408899

Conflicting classifications of pathogenicity

Stiff skin syndrome
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Weill-Marchesani syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647076

rs_575922741

2 SubmittersRCV000275353 RCV000304791 RCV000319804 RCV000330197 RCV000354953 RCV000356041 RCV000403277 RCV003391137

NM_000138.5(FBN1):c.*1252A>G

SNV
Germline

Chr15:48409738

Conflicting classifications of pathogenicity

Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Marfan syndrome
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647078

rs_566419089

2 SubmittersRCV000263318 RCV000276179 RCV000306316 RCV000331274 RCV000364551 RCV000370706 RCV000407560 RCV002262991

NM_000138.5(FBN1):c.*1245C>T

SNV
Germline

Chr15:48409745

Conflicting classifications of pathogenicity

Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Geleophysic dysplasia
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA10647080

rs_181099623

1 SubmittersRCV000278523 RCV000284615 RCV000318453 RCV000339596 RCV000373063 RCV000379062 RCV000399830

NM_000138.5(FBN1):c.*967C>T

SNV
Germline

Chr15:48410023

Conflicting classifications of pathogenicity

Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Geleophysic dysplasia

Criteria Provided
Conflicting Classifications

CA10647082

rs_56024388

1 SubmittersRCV000275807 RCV000293685 RCV000333566 RCV000336915 RCV000375442 RCV000381977 RCV000385769

NM_000138.5(FBN1):c.8227-3C>T

SNV
Germline

Chr15:48411382

Conflicting classifications of pathogenicity

Marfan syndrome
Ectopia lentis
MASS syndrome
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Stiff skin syndrome
Geleophysic dysplasia
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA059851

rs_200822151

6 SubmittersRCV000289209 RCV000311376 RCV000346461 RCV000341750 RCV000349902 RCV000382367 RCV000395298 RCV000400407 RCV001697752 RCV001850674 RCV004537780

NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)

SNV
Germline

Chr15:48430741

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10647086

rs_886051245

3 SubmittersRCV000283843 RCV000298102 RCV000338852 RCV000353034 RCV000368091 RCV000396161 RCV000398246 RCV003765834

NM_000138.5(FBN1):c.885T>G (p.Ile295Met)

SNV
Germline

Chr15:48526233

Conflicting classifications of pathogenicity

Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Geleophysic dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA060328

rs_151056963

5 SubmittersRCV000260937 RCV000300817 RCV000311219 RCV000324354 RCV000353445 RCV000358152 RCV000406479 RCV001220849 RCV001770257

NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser)

SNV
Germline

Chr15:48472622

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16042874

rs_1057517910

2 SubmittersRCV000414270 RCV001208540

NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)

SNV
Germline

Chr15:48415708

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA16042933

rs_193922239

4 SubmittersRCV000414309 RCV000632003 RCV000663990 RCV001553625

NM_000138.5(FBN1):c.7204+3A>G

SNV
Germline

Chr15:48427564

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16042935

rs_1057518076

3 SubmittersRCV000413052 RCV000462540 RCV002374618

NM_000138.5(FBN1):c.6164-2A>G

SNV
Germline

Chr15:48437919

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042941

rs_794728244

2 SubmittersRCV000414307 RCV001379798

NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)

SNV
Germline

Chr15:48441798

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042943

rs_1057517855

3 SubmittersRCV000413542 RCV003766146 RCV004786677

NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)

SNV
Germline

Chr15:48452612

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA16042961

rs_764203302

4 SubmittersRCV000414642 RCV000766250 RCV002521439 RCV003995926

NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)

SNV
Germline

Chr15:48596343

Pathogenic/Likely pathogenic

Mitral regurgitation
Ectopia lentis
Aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA16043496

rs_1057518973

5 SubmittersRCV000415236 RCV002250623 RCV001389968 RCV003993950

NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)

SNV
Germline

Chr5:128349391

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Marfan syndrome
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA16044044

rs_1057519321

2 SubmittersRCV000416376 RCV001861464

NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)

SNV
Unknown

Chr15:48444574

Likely pathogenic

Congenital contractural arachnodactyly
Marfan syndrome

Criteria Provided
Single Submitter

CA16044046

rs_1057519320

1 SubmittersRCV000416355

NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr15:48495237

Pathogenic/Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16044279

rs_1057519502

2 SubmittersRCV000416509

NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)

SNV
Germline

Chr15:48508633

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603266

rs_1057520131

3 SubmittersRCV000439856 RCV001861486

NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser)

SNV
Germline

Chr6:70252264

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA3882005

rs_773380068

3 SubmittersRCV000439095 RCV001312199

NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)

SNV
Germline

Chr15:48415585

Likely pathogenic

Condition: not provided
Marfan syndrome

Reviewed By Expert Panel

CA16606683

rs_1057521100

3 SubmittersRCV000424126 RCV000664005

NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)

SNV
Germline

Chr15:48415681

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16606687

rs_112566465

4 SubmittersRCV000444024 RCV000490638 RCV002522727

NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr)

SNV
Germline

Chr15:48430748

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16606691

rs_1057520679

2 SubmittersRCV000424583 RCV002524849

NM_000138.5(FBN1):c.6379+2T>C

SNV
Germline

Chr15:48437320

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16606697

rs_113453570

2 SubmittersRCV000422144 RCV003766214

NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe)

SNV
Germline

Chr15:48470711

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16606704

rs_1057522902

2 SubmittersRCV000428134 RCV001865362

NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)

SNV
Germline

Chr15:48487360

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA050549

rs_780972853

2 SubmittersRCV000427581 RCV003766441

NM_000138.5(FBN1):c.2678-3C>T

SNV
Germline

Chr15:48494257

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA048478

rs_747274959

5 SubmittersRCV000426105 RCV000659518 RCV001229781 RCV003485581

NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)

SNV
Germline

Chr15:48510088

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16606733

rs_1057521102

3 SubmittersRCV000443014 RCV000631988 RCV000663479

NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)

SNV
Germline

Chr15:48513615

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16606736

rs_1057521859

2 SubmittersRCV000430329 RCV001384834

NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)

SNV
Germline

Chr15:48513656

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16606737

rs_1057518881

3 SubmittersRCV000423905 RCV000663462 RCV000792027

NM_000138.5(FBN1):c.863-3C>T

SNV
Germline

Chr15:48526258

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606739

rs_955955089

4 SubmittersRCV000536781 RCV001186894 RCV001704458

NM_000138.5(FBN1):c.6054C>T (p.Val2018=)

SNV
Germline

Chr15:48441830

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Condition: not provided
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA056184

rs_542953863

9 SubmittersRCV000443368 RCV000528819 RCV000769632 RCV002279201 RCV002510891 RCV004000495 RCV004539874

NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser)

SNV
Germline

Chr15:48489988

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16606970

rs_1057524458

2 SubmittersRCV000427671 RCV000693320

NM_000138.5(FBN1):c.2113+2T>G

SNV
Germline

Chr15:48503785

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16606975

rs_730880105

2 SubmittersRCV000443476 RCV000559967

NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)

SNV
Germline

Chr15:48430690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057495

rs_201226058

8 SubmittersRCV000426936 RCV000726715 RCV001170302 RCV002061391 RCV003995959

NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)

SNV
Germline

Chr15:48430710

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA057451

rs_363835

9 SubmittersRCV000422176 RCV000632048 RCV000769626 RCV000659570 RCV001810910 RCV004530565

NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly)

SNV
Germline

Chr15:48430749

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16607084

rs_1057522272

2 SubmittersRCV000425848 RCV003766302

NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)

SNV
Germline

Chr15:48430770

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16607087

rs_1057520617

4 SubmittersRCV000443127 RCV000663899 RCV003766212

NM_000138.5(FBN1):c.5358T>C (p.Val1786=)

SNV
Germline

Chr15:48456701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16607090

rs_1057521207

4 SubmittersRCV000444655 RCV000731322 RCV001188687 RCV002519533

NM_000138.5(FBN1):c.5225-13T>G

SNV
Germline

Chr15:48460330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054471

rs_367786211

6 SubmittersRCV001191117 RCV001703558 RCV002061627 RCV002265759 RCV003996026

NM_000138.5(FBN1):c.1821T>C (p.Asp607=)

SNV
Germline

Chr15:48508598

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Stiff skin syndrome
Geleophysic dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045942

rs_149133920

9 SubmittersRCV000430068 RCV000461304 RCV001116929 RCV001116931 RCV001116930 RCV001116932 RCV001116933 RCV001120211 RCV001116928 RCV001537838

NM_000138.5(FBN1):c.1715-9T>A

SNV
Germline

Chr15:48508713

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA16607105

rs_1057520813

4 SubmittersRCV000418375 RCV002524868 RCV003528168 RCV003996038

NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter)

SNV
Germline

Chr15:48520795

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16607110

rs_1057520656

2 SubmittersRCV000422533 RCV001038404

NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)

SNV
Germline

Chr15:48596360

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16607111

rs_1057521103

2 SubmittersRCV000433676 RCV003766235

NM_000138.5(FBN1):c.3903C>T (p.Gly1301=)

SNV
Germline

Chr15:48481716

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16607805

rs_1018707026

3 SubmittersRCV000436375 RCV004805005 RCV002521711

NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)

SNV
Germline

Chr15:48494209

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16607810

rs_1057523406

2 SubmittersRCV000420946 RCV000546627

NM_000138.5(FBN1):c.8051+375G>T

SNV
Germline

Chr15:48415161

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614382

rs_1060501062

1 SubmittersRCV000461883

NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)

SNV
Germline

Chr15:48415567

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614384

rs_1060501014

2 SubmittersRCV001378110 RCV001560619

NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter)

SNV
Germline

Chr15:48415735

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614391

rs_141133182

1 SubmittersRCV001383706

NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr)

SNV
Germline

Chr15:48422056

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614394

rs_1060501077

1 SubmittersRCV001382029

NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly)

SNV
Germline

Chr15:48425491

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614395

rs_1060501093

1 SubmittersRCV000472916

NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter)

SNV
Germline

Chr15:48428395

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614404

rs_1060501016

1 SubmittersRCV001380947

NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)

SNV
Germline

Chr15:48434634

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614406

rs_369058466

2 SubmittersRCV000462736 RCV001377060

NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter)

SNV
Germline

Chr15:48436986

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614408

rs_1060501034

1 SubmittersRCV001385980

NM_000138.5(FBN1):c.5672-2A>G

SNV
Germline

Chr15:48446824

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614415

rs_1060501053

1 SubmittersRCV000466451

NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)

SNV
Germline

Chr15:48456729

Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614417

rs_1060501069

3 SubmittersRCV000467273 RCV000585388 RCV001379157

NM_000138.5(FBN1):c.4583-5A>G

SNV
Germline

Chr15:48468107

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA16614422

rs_778966916

2 SubmittersRCV000458795 RCV003235218

NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)

SNV
Germline

Chr15:48470726

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16614429

rs_397515805

2 SubmittersRCV000475879 RCV004801987

NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)

SNV
Germline

Chr15:48495253

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA048013

rs_778258207

10 SubmittersRCV000474691 RCV000663552 RCV000780241 RCV000769647 RCV002056710 RCV004737510

NM_000138.5(FBN1):c.2089C>T (p.Gln697Ter)

SNV
Germline

Chr15:48503811

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614443

rs_1060501082

1 SubmittersRCV000465213

NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)

SNV
Germline

Chr15:48505136

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614446

rs_1060501017

3 SubmittersRCV000474956 RCV001380729

NM_000138.5(FBN1):c.1837+4C>T

SNV
Germline

Chr15:48508578

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA046043

rs_199950267

5 SubmittersRCV000470131 RCV001180046 RCV001662422 RCV004737509

NM_000138.5(FBN1):c.1469-5T>G

SNV
Germline

Chr15:48513673

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA16614453

rs_1060504144

2 SubmittersRCV001474556 RCV004002118

NM_000138.5(FBN1):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr15:48537755

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614457

rs_1060501035

1 SubmittersRCV001390767

NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys)

SNV
Germline

Chr15:48411015

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16614469

rs_1060501028

2 SubmittersRCV000472146 RCV000770650

NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)

SNV
Germline

Chr15:48411279

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA059942

rs_748327743

4 SubmittersRCV000464985 RCV004000733 RCV004791468 RCV001188148

NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)

SNV
Germline

Chr15:48420805

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA059093

rs_368054842

4 SubmittersRCV001456771 RCV003528174 RCV004701516

NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser)

SNV
Germline

Chr15:48446774

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614507

rs_1060501087

1 SubmittersRCV000476981

NM_000138.5(FBN1):c.5672-87A>G

SNV
Germline

Chr15:48446909

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614509

rs_1060501029

2 SubmittersRCV000457495 RCV002510894

NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr)

SNV
Germline

Chr15:48468462

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614510

rs_1060501074

2 SubmittersRCV000468089 RCV000480333

NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)

SNV
Germline

Chr15:48483871

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA051513

rs_371103773

4 SubmittersRCV000464833 RCV001181137 RCV002481397 RCV004000731

NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr)

SNV
Germline

Chr15:48487356

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614520

rs_1060501075

1 SubmittersRCV001378408

NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter)

SNV
Germline

Chr15:48488411

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614522

rs_1060501040

2 SubmittersRCV001384246 RCV001782936

NM_000138.5(FBN1):c.2420-2A>G

SNV
Germline

Chr15:48495590

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614523

rs_1060501052

1 SubmittersRCV000457150

NM_000138.5(FBN1):c.1915T>A (p.Cys639Ser)

SNV
Germline

Chr15:48505070

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614529

rs_1060501078

1 SubmittersRCV001385097

NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)

SNV
Germline

Chr15:48516275

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044042

rs_764925097

3 SubmittersRCV000461687 RCV000588474

NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)

SNV
Germline

Chr15:48644646

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044063

rs_377722423

8 SubmittersRCV000458251 RCV000729437 RCV001170560 RCV001194180 RCV004000735

NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr)

SNV
Germline

Chr15:48432910

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16614626

rs_1060501054

2 SubmittersRCV000470389 RCV004017626

NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)

SNV
Germline

Chr15:48437872

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614630

rs_1060501044

1 SubmittersRCV001377771

NM_000138.5(FBN1):c.6164-1G>A

SNV
Germline

Chr15:48437918

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA16614631

rs_1060501048

1 SubmittersRCV000462921

NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter)

SNV
Germline

Chr15:48441725

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614635

rs_1060501095

1 SubmittersRCV001381355

NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr)

SNV
Germline

Chr15:48448812

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614640

rs_112728248

1 SubmittersRCV000457537

NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)

SNV
Germline

Chr15:48448857

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA055263

rs_766358553

6 SubmittersRCV000476381 RCV001095722 RCV001181376 RCV001753875 RCV002502618

NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)

SNV
Germline

Chr15:48463099

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614644

rs_1060501070

1 SubmittersRCV001377303

NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)

SNV
Germline

Chr15:48463965

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA054126

rs_140626

6 SubmittersRCV000466201 RCV001000163 RCV001185791 RCV002481399 RCV003235219 RCV004000736

NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter)

SNV
Germline

Chr15:48468526

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614646

rs_1060501076

1 SubmittersRCV001387501

NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)

SNV
Germline

Chr15:48474554

Pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614649

rs_1060501039

4 SubmittersRCV000463734 RCV002461187

NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)

SNV
Germline

Chr15:48488224

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA050201

rs_201156527

6 SubmittersRCV000465841 RCV000520471 RCV001187622 RCV002480367 RCV004000737

NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)

SNV
Germline

Chr15:48496214

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16614664

rs_1060501022

2 SubmittersRCV000474029 RCV002250629

NM_000138.5(FBN1):c.2293+1G>A

SNV
Germline

Chr15:48497265

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614665

rs_1060501092

2 SubmittersRCV001377724 RCV002446792

NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)

SNV
Germline

Chr15:48503820

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614667

rs_1060501024

2 SubmittersRCV000476523 RCV001384721

NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)

SNV
Germline

Chr15:48503918

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614668

rs_1060501086

2 SubmittersRCV000467145 RCV001381625

NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)

SNV
Germline

Chr15:48513599

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome

Reviewed By Expert Panel

CA16614674

rs_1060501036

3 SubmittersRCV000468015 RCV000587764 RCV003401461

NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)

SNV
Germline

Chr15:48513612

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614676

rs_1060501073

1 SubmittersRCV000464135

NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)

SNV
Germline

Chr15:48515429

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16614683

rs_794728326

3 SubmittersRCV000780248 RCV001378778 RCV004796184

NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)

SNV
Germline

Chr15:48534131

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614684

rs_1060501019

2 SubmittersRCV000493552 RCV001376849

NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)

SNV
Germline

Chr15:48411306

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
not specified
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA059904

rs_536503540

10 SubmittersRCV000471343 RCV000587559 RCV001177373 RCV002481398 RCV003155187 RCV004000734

NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)

SNV
Germline

Chr15:48415739

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

CA059284

rs_138184493

5 SubmittersRCV000459498 RCV000663985 RCV001181127 RCV002506108

NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)

SNV
Germline

Chr15:48421997

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614786

rs_1060501055

2 SubmittersRCV000465552 RCV002393094

NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter)

SNV
Germline

Chr15:48430758

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16602237

rs_1060501023

2 SubmittersRCV000468306 RCV003329279

NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)

SNV
Germline

Chr15:48430802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16614794

rs_1060501032

5 SubmittersRCV000458027 RCV000663896 RCV001093331 RCV001192807

NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)

SNV
Germline

Chr15:48474299

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614806

rs_1060501026

2 SubmittersRCV001383172 RCV003480638

NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)

SNV
Germline

Chr15:48494210

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16614815

rs_1060501021

5 SubmittersRCV000460579 RCV000791419 RCV002526401 RCV002429487

NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)

SNV
Germline

Chr15:48495143

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA16614816

rs_1060501083

2 SubmittersRCV000474427 RCV000663564

NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg)

SNV
Germline

Chr15:48495162

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614821

rs_794728194

2 SubmittersRCV001388388 RCV004800414

NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe)

SNV
Germline

Chr15:48496150

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614825

rs_193922188

2 SubmittersRCV001382199 RCV004808721

NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)

SNV
Germline

Chr15:48516221

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA044189

rs_771134832

8 SubmittersRCV000472023 RCV000659508 RCV001189403 RCV001810947 RCV004000729

NM_000138.5(FBN1):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr15:48600172

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16614846

rs_1060501047

1 SubmittersRCV001386280

NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)

SNV
Germline

Chr15:48415560

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA059470

rs_146469379

6 SubmittersRCV000483455 RCV000697974 RCV000765218 RCV001180112 RCV004002242

NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)

SNV
Germline

Chr15:48420731

Pathogenic

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

Reviewed By Expert Panel

CA16619939

rs_112118237

5 SubmittersRCV000484944 RCV000780264 RCV001378272 RCV004698426

NM_000138.5(FBN1):c.6872-14A>G

SNV
Germline

Chr15:48428485

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Conflicting Classifications

CA16619942

rs_1064793119

8 SubmittersRCV000632008 RCV000663907 RCV001509486 RCV002374878 RCV004782393

NM_000138.5(FBN1):c.6616+1G>A

SNV
Germline

Chr15:48434593

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16619943

rs_1064793980

4 SubmittersRCV000482028 RCV000663884 RCV000808422

NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)

SNV
Germline

Chr15:48437038

Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619944

rs_1064793118

2 SubmittersRCV000487361 RCV002245990

NM_000138.5(FBN1):c.5422+1G>A

SNV
Germline

Chr15:48456636

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA16619952

rs_1064793116

2 SubmittersRCV000485314 RCV001389172

NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)

SNV
Germline

Chr15:48487401

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA050461

rs_768831064

3 SubmittersRCV000482179 RCV000631978 RCV004002241

NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)

SNV
Germline

Chr15:48496126

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16619966

rs_1064793112

3 SubmittersRCV000485515 RCV001317673 RCV003485587

NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)

SNV
Germline

Chr15:48497316

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619969

rs_1064794282

6 SubmittersRCV000486760 RCV000588016 RCV000696385 RCV002466256

NM_000138.5(FBN1):c.1880G>A (p.Arg627His)

SNV
Germline

Chr15:48505105

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
not specified
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA046227

rs_746073643

7 SubmittersRCV000485013 RCV000803376 RCV001179088 RCV002506159 RCV003226302 RCV004002262

NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)

SNV
Germline

Chr15:48510080

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16619973

rs_1064794283

3 SubmittersRCV000481478 RCV000663480 RCV002525829

NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)

SNV
Germline

Chr15:48488234

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA050183

rs_757177349

8 SubmittersRCV000488255 RCV000781360 RCV001180611 RCV001425557 RCV004003412 RCV004541532

NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)

SNV
Germline

Chr15:48422068

Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392326285

rs_1085307921

2 SubmittersRCV000490210 RCV001729616

NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)

SNV
Germline

Chr15:48425420

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392327790

rs_1085308004

4 SubmittersRCV000489574 RCV000791340 RCV001217017 RCV002314846

NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr)

SNV
Germline

Chr15:48444585

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392339704

rs_1085307531

2 SubmittersRCV000489151 RCV000707395

NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)

SNV
Germline

Chr15:48472581

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392317608

rs_377338217

4 SubmittersRCV000489773 RCV001184831 RCV004003428 RCV003766747

NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe)

SNV
Germline

Chr15:48472628

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392317902

rs_397515804

3 SubmittersRCV000489946 RCV000663704 RCV003766750

NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg)

SNV
Germline

Chr15:48508666

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392340510

rs_1085307528

2 SubmittersRCV000490226 RCV001377294

NM_000138.5(FBN1):c.821C>A (p.Pro274His)

SNV
Germline

Chr15:48534121

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392352445

rs_1085307537

5 SubmittersRCV000489912 RCV001182997 RCV002481550 RCV002527022 RCV004003422

NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)

SNV
Germline

Chr15:48537718

Likely pathogenic

Condition: not provided
Marfan syndrome

Reviewed By Expert Panel

CA392446003

rs_1085307468

3 SubmittersRCV000489812 RCV000663859

NM_000138.5(FBN1):c.7819+1G>A

SNV
Germline

Chr15:48420686

Pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392324382

rs_112907302

3 SubmittersRCV000493377 RCV000663981 RCV003766779

NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)

SNV
Germline

Chr15:48425852

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392328826

rs_1131691479

4 SubmittersRCV000492809 RCV000663939 RCV001851355

NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)

SNV
Germline

Chr15:48434669

Likely pathogenic

Condition: not provided
not specified
Marfan syndrome

Reviewed By Expert Panel

CA392335055

rs_1131691373

3 SubmittersRCV000494127 RCV000722112 RCV004776287

NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)

SNV
Germline

Chr15:48437369

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392336833

rs_1131691467

3 SubmittersRCV000492855 RCV001334258 RCV001064950

NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)

SNV
Germline

Chr15:48445454

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392340092

rs_1131691938

3 SubmittersRCV000494160 RCV000699760 RCV000663825

NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg)

SNV
Germline

Chr15:48452637

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392344307

rs_1131691478

2 SubmittersRCV000493978 RCV001865544

NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)

SNV
Germline

Chr15:48463123

Pathogenic/Likely pathogenic

Condition: not provided
Metaphyseal chondrodysplasia
Relative macrocephaly
Short stature
Wide mouth
Wide nasal bridge
Geleophysic dysplasia
Geleophysic dysplasia 2
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Acromicric dysplasia
FBN1-related disorder
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA392349119

rs_1131691804

10 SubmittersRCV000493791 RCV000626616 RCV000626617 RCV000779168 RCV001293674 RCV001387308 RCV002279270 RCV004556061 RCV004722833 RCV004796204

NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser)

SNV
Germline

Chr15:48470711

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392354610

rs_1057522902

2 SubmittersRCV000494061 RCV003766783

NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter)

SNV
Germline

Chr15:48483899

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392324001

rs_1131691311

2 SubmittersRCV000493128 RCV002245991

NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)

SNV
Germline

Chr15:48487363

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Single Submitter

CA392326402

rs_1131691806

2 SubmittersRCV000493457 RCV000663638

NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)

SNV
Germline

Chr15:48488493

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392328329

rs_1131691317

3 SubmittersRCV000494510 RCV001248380 RCV003444556

NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr)

SNV
Germline

Chr15:48415566

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392322605

rs_1555393827

2 SubmittersRCV000498555 RCV002272263

NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)

SNV
Germline

Chr15:48436970

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA392336293

rs_1555395191

5 SubmittersRCV000498938 RCV000702863 RCV001374838 RCV001824810

NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)

SNV
Germline

Chr15:48441771

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA269530715

rs_363804

4 SubmittersRCV000497640 RCV000663849 RCV003485593 RCV003766792

NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)

SNV
Germline

Chr15:48474638

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392320642

rs_1555397738

3 SubmittersRCV000498455 RCV000663680 RCV000811859

NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)

SNV
Germline

Chr15:48495131

Likely pathogenic

Condition: not provided
Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Connective tissue disorder

Reviewed By Expert Panel

CA392331935

rs_1555399144

5 SubmittersRCV000498470 RCV000663566 RCV001198272 RCV002279274

NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)

SNV
Germline

Chr15:48434594

Conflicting classifications of pathogenicity

Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392334571

rs_1555394999

2 SubmittersRCV000504482

NM_000138.5(FBN1):c.7699+5G>A

SNV
Germline

Chr15:48421553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA645509189

rs_1555394187

5 SubmittersRCV000507664 RCV000663969 RCV003144298 RCV003766879

NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)

SNV
Germline

Chr15:48421601

Pathogenic

Condition: not provided
Congenital aneurysm of ascending aorta
Acute aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392325096

rs_1555394195

5 SubmittersRCV000508231 RCV000755192 RCV000825613 RCV002395225

NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter)

SNV
Germline

Chr15:48441797

Pathogenic

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392338394

rs_1555395475

2 SubmittersRCV000505946 RCV001865657

NM_000138.5(FBN1):c.2148A>G (p.Gly716=)

SNV
Germline

Chr15:48499004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA046939

rs_141039922

8 SubmittersRCV000507578 RCV000727005 RCV001089320 RCV001188645 RCV004003555

NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)

SNV
Germline

Chr15:48437894

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392337244

rs_1316593215

7 SubmittersRCV000506354 RCV001046063 RCV001178175 RCV001591155 RCV002481637 RCV004003557

NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)

SNV
Germline

Chr15:48432944

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA269523649

rs_113543334

5 SubmittersRCV000507361 RCV000806890 RCV002245992

NM_000138.5(FBN1):c.7700-9C>G

SNV
Germline

Chr15:48420815

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA269519593

rs_772261791

4 SubmittersRCV000506558 RCV001525738 RCV001712467 RCV003766880

NM_000138.5(FBN1):c.2228G>A (p.Arg743His)

SNV
Germline

Chr15:48497331

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome
FBN1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA047216

rs_761942436

8 SubmittersRCV000507032 RCV001176834 RCV001857268 RCV002481638 RCV004003558 RCV004535641 RCV004722847

NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr)

SNV
Germline

Chr15:48446711

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392341016

rs_587782947

4 SubmittersRCV000506228 RCV001384078 RCV001613330

NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)

SNV
Germline

Chr15:48474370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA052067

rs_375402043

7 SubmittersRCV000513577 RCV000632049 RCV000772180 RCV001192950 RCV004003587

NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe)

SNV
Unknown

Chr15:48505102

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA392339112

rs_1555399825

1 SubmittersRCV000515134

NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)

SNV
Germline

Chr15:48415707

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392323342

rs_1555393875

3 SubmittersRCV000522194 RCV002413405 RCV003766945

NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)

SNV
Germline

Chr15:48422017

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA392325997

rs_1555394243

5 SubmittersRCV000663959 RCV000632019 RCV001526931 RCV000521613

NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)

SNV
Germline

Chr15:48425446

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392327896

rs_1555394406

2 SubmittersRCV000519976 RCV001219771

NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)

SNV
Germline

Chr15:48425458

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392327954

rs_1555394409

2 SubmittersRCV000519554 RCV001061535

NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)

SNV
Germline

Chr15:48428390

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Single Submitter

CA392330600

rs_1555394626

2 SubmittersRCV000521679 RCV000663918

NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)

SNV
Germline

Chr15:48430723

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057444

rs_778027769

7 SubmittersRCV000632028 RCV003226317 RCV000522487 RCV000680520 RCV001188647

NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)

SNV
Germline

Chr15:48434707

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392335330

rs_1555395015

2 SubmittersRCV000523160 RCV000531397

NM_000138.5(FBN1):c.6313+3A>G

SNV
Germline

Chr15:48437765

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA658656479

rs_1555395256

4 SubmittersRCV000693630 RCV001704660 RCV003150254 RCV004698427

NM_000138.5(FBN1):c.6313+2T>C

SNV
Germline

Chr15:48437766

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Single Submitter

CA392336880

rs_1555395257

2 SubmittersRCV000519359 RCV000663861

NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)

SNV
Germline

Chr15:48456688

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392346026

rs_1555396427

6 SubmittersRCV000521486 RCV000663779 RCV001851486 RCV002314906

NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)

SNV
Germline

Chr15:48472607

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA392317779

rs_1555397548

4 SubmittersRCV000523636 RCV002527577 RCV002329234 RCV003476880

NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)

SNV
Germline

Chr15:48481768

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392322568

rs_1555398173

3 SubmittersRCV000520474 RCV000795383 RCV002245993

NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)

SNV
Germline

Chr15:48487329

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA050611

rs_147584221

5 SubmittersRCV000519310 RCV001180375 RCV001858030 RCV002490922 RCV004003641

NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter)

SNV
Germline

Chr15:48488197

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392327480

rs_1555398640

2 SubmittersRCV000519352 RCV003766946

NM_000138.5(FBN1):c.2854+1G>T

SNV
Germline

Chr15:48492460

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA269535699

rs_112809590

2 SubmittersRCV000521571 RCV003766971

NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr15:48510152

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392341326

rs_1479709398

2 SubmittersRCV000522130 RCV001205566

NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)

SNV
Germline

Chr15:48516299

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392345612

rs_779930519

4 SubmittersRCV000589559 RCV004003620 RCV001857995

NM_000138.5(FBN1):c.832A>G (p.Lys278Glu)

SNV
Germline

Chr15:48534110

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA059948

rs_775505429

3 SubmittersRCV000523557 RCV001066350 RCV004003632

NM_000138.5(FBN1):c.523C>T (p.Pro175Ser)

SNV
Germline

Chr15:48596298

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA270049424

rs_891185586

3 SubmittersRCV000520060 RCV004802125 RCV004722863

NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)

SNV
Germline

Chr15:48596318

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392446296

rs_1555404803

3 SubmittersRCV000521281 RCV000659503

NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)

SNV
Germline

Chr15:48596354

Conflicting classifications of pathogenicity

Condition: not provided
Progeroid and marfanoid aspect-lipodystrophy syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA053522

rs_779490973

8 SubmittersRCV000523734 RCV001199083 RCV001185070 RCV001220123 RCV002481699 RCV004806386

NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)

SNV
Germline

Chr15:48526247

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA392350549

rs_1232880706

2 SubmittersRCV000551372

NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)

SNV
Germline

Chr2:189058862

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA2022440

rs_146175905

5 SubmittersRCV000582800 RCV001354120 RCV002231700 RCV002420392

NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)

SNV
Germline

Chr15:48411374

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA392320221

rs_376119827

10 SubmittersRCV000546431 RCV000765217 RCV001181857 RCV001591196 RCV002282205 RCV002298645

NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)

SNV
Germline

Chr15:48415545

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392322503

rs_1555393825

2 SubmittersRCV000545570 RCV002245997

NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)

SNV
Germline

Chr15:48427659

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392329714

rs_1555394567

3 SubmittersRCV000530226 RCV000663930

NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)

SNV
Germline

Chr15:48428437

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392330800

rs_1555394634

1 SubmittersRCV000528000

NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)

SNV
Germline

Chr15:48430697

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA057481

rs_759696323

7 SubmittersRCV000527072 RCV000576458 RCV000772096 RCV001755802 RCV002497067

NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)

SNV
Germline

Chr15:48430741

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392332416

rs_886051245

3 SubmittersRCV000527434 RCV000590209 RCV002245996

NM_000138.5(FBN1):c.6616+1G>C

SNV
Germline

Chr15:48434593

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392334565

rs_1064793980

1 SubmittersRCV000557422

NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)

SNV
Germline

Chr15:48441835

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA392338617

rs_1555395486

3 SubmittersRCV000548249 RCV000769633 RCV002490964

NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)

SNV
Germline

Chr15:48465619

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392351157

rs_1555396998

2 SubmittersRCV000548673 RCV004003788

NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr)

SNV
Germline

Chr15:48467994

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA16609286

rs_267606800

1 SubmittersRCV000530866

NM_000138.5(FBN1):c.4582+1G>T

SNV
Germline

Chr15:48468411

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392353266

rs_1555397195

1 SubmittersRCV000551908

NM_000138.5(FBN1):c.4459+2T>G

SNV
Germline

Chr15:48470632

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392354189

rs_1555397393

1 SubmittersRCV000550114

NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)

SNV
Germline

Chr15:48472571

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA052473

rs_755085498

4 SubmittersRCV000544870 RCV001181854 RCV002497066 RCV004003786

NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)

SNV
Germline

Chr15:48492544

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392330742

rs_1206476337

2 SubmittersRCV001525947 RCV000551398

NM_000138.5(FBN1):c.1668G>A (p.Val556=)

SNV
Germline

Chr15:48510090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA045628

rs_761662654

7 SubmittersRCV000541290 RCV001183479 RCV001797747 RCV001824327 RCV004003780

NM_000138.5(FBN1):c.7819+1G>T

SNV
Germline

Chr15:48420686

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392324380

rs_112907302

1 SubmittersRCV000527653

NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp)

SNV
Germline

Chr15:48421652

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392325736

rs_113544411

2 SubmittersRCV000537261 RCV001552938

NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)

SNV
Germline

Chr15:48422006

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Stiff skin syndrome

Criteria Provided
Conflicting Classifications

CA058726

rs_756295016

6 SubmittersRCV000560345 RCV001120209 RCV001120204 RCV001120210 RCV001120206 RCV001120208 RCV001120205 RCV001120207

NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)

SNV
Germline

Chr15:48425422

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA058511

rs_770839761

9 SubmittersRCV000560403 RCV000995330 RCV001177890 RCV002506299 RCV004003795

NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser)

SNV
Germline

Chr15:48437066

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392336694

rs_1555395210

1 SubmittersRCV000542942

NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)

SNV
Germline

Chr15:48445469

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392340125

rs_1555395762

1 SubmittersRCV000556862

NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)

SNV
Germline

Chr15:48452595

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392344045

rs_397515823

4 SubmittersRCV000539130 RCV000663793 RCV002298644 RCV002350188

NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)

SNV
Germline

Chr15:48468455

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392353476

rs_1555397203

4 SubmittersRCV000550970 RCV000663737 RCV000770666 RCV003227781

NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)

SNV
Germline

Chr15:48472594

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA269519916

rs_112375043

4 SubmittersRCV000542755 RCV000663712

NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)

SNV
Germline

Chr15:48472594

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392317689

rs_112375043

5 SubmittersRCV000540903 RCV000663711 RCV001170773

NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)

SNV
Germline

Chr15:48472643

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392317993

rs_1555397556

1 SubmittersRCV000530303

NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)

SNV
Germline

Chr15:48474572

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392320494

rs_1555397720

4 SubmittersRCV000553382 RCV001560459 RCV002245995 RCV002314921

NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)

SNV
Germline

Chr15:48488431

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA049951

rs_778181932

8 SubmittersRCV000555743 RCV001197236 RCV001702671 RCV001177886 RCV004003783 RCV003323592

NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)

SNV
Germline

Chr15:48489983

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA049472

rs_747713929

7 SubmittersRCV000536950 RCV001115324 RCV001121897 RCV001121898 RCV001121899 RCV001121900 RCV001121896 RCV001115325 RCV001311040

NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)

SNV
Germline

Chr15:48490060

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392330133

rs_1555398834

1 SubmittersRCV000559409

NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)

SNV
Germline

Chr15:48492577

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392330886

rs_1555398995

1 SubmittersRCV000559175

NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg)

SNV
Germline

Chr15:48495174

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392332322

rs_1555399158

1 SubmittersRCV000539094

NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe)

SNV
Germline

Chr15:48510088

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392341047

rs_1057521102

1 SubmittersRCV000553904

NM_000138.5(FBN1):c.443-1G>A

SNV
Germline

Chr15:48596379

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392446422

rs_1555404821

1 SubmittersRCV000534219

NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)

SNV
Germline

Chr15:48421962

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Condition: not provided
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA058786

rs_760425899

12 SubmittersRCV000548881 RCV000611742 RCV000771857 RCV001116920 RCV001115505 RCV001115506 RCV001116921 RCV001116922 RCV001579851 RCV004537907

NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)

SNV
Germline

Chr15:48452676

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392344477

rs_761857514

3 SubmittersRCV000791339 RCV000550714

NM_000138.5(FBN1):c.4337-2A>T

SNV
Germline

Chr15:48470758

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392354872

rs_794728216

1 SubmittersRCV000557265

NM_000138.5(FBN1):c.4211-10C>T

SNV
Germline

Chr15:48472686

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA052232

rs_28730793

5 SubmittersRCV000554276 RCV000771376 RCV001117853 RCV001117854 RCV001117850 RCV001117852 RCV001117849 RCV001117851 RCV004537904

NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr)

SNV
Germline

Chr15:48487317

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA269531142

rs_140599

3 SubmittersRCV000551753 RCV000663641 RCV004023770

NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)

SNV
Germline

Chr15:48489902

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392328982

rs_1267721327

4 SubmittersRCV000554330 RCV000769642 RCV000663596

NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)

SNV
Germline

Chr15:48489980

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392329497

rs_794728199

1 SubmittersRCV000524595

NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg)

SNV
Germline

Chr15:48495153

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392332149

rs_1555399150

2 SubmittersRCV000532441 RCV004787845

NM_000138.5(FBN1):c.1983C>G (p.Cys661Trp)

SNV
Germline

Chr15:48503917

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392338780

rs_765018527

1 SubmittersRCV000530267

NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)

SNV
Germline

Chr15:48515393

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392343563

rs_1555400373

4 SubmittersRCV000547735 RCV000663458 RCV000763359 RCV001798874

NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)

SNV
Germline

Chr15:48411271

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392319546

rs_1555393551

1 SubmittersRCV000548361

NM_000138.5(FBN1):c.8051+5G>A

SNV
Germline

Chr15:48415531

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059520

rs_767384075

7 SubmittersRCV000557828 RCV001176127 RCV002245998 RCV004525961 RCV004696933

NM_000138.5(FBN1):c.7999G>T (p.Glu2667Ter)

SNV
Germline

Chr15:48415588

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392322717

rs_149062442

1 SubmittersRCV000541047

NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)

SNV
Germline

Chr15:48600148

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392446450

rs_1555405031

2 SubmittersRCV000550317 RCV002314922

NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)

SNV
Germline

Chr15:48600175

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA392446510

rs_1555405041

2 SubmittersRCV000529377 RCV000663691

NM_000138.5(FBN1):c.6038-1G>A

SNV
Germline

Chr15:48441847

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392338728

rs_1555395489

1 SubmittersRCV000533716

NM_000138.5(FBN1):c.5788+2T>C

SNV
Germline

Chr15:48446704

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392340988

rs_1555395818

1 SubmittersRCV000552566

NM_000138.5(FBN1):c.4817-2A>G

SNV
Germline

Chr15:48465695

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392351462

rs_1555397008

2 SubmittersRCV000560148 RCV002330832

NM_000138.5(FBN1):c.4747+5G>T

SNV
Germline

Chr15:48467933

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA658656473

rs_193922209

1 SubmittersRCV000535198

NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)

SNV
Germline

Chr15:48483862

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392323789

rs_1555398279

2 SubmittersRCV000788460 RCV000553629

NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg)

SNV
Germline

Chr15:48485470

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392324626

rs_1555398411

1 SubmittersRCV000528688

NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)

SNV
Germline

Chr15:48488155

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

CA050267

rs_763485521

6 SubmittersRCV000556661 RCV000663623 RCV001191187 RCV002476105

NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)

SNV
Germline

Chr15:48520727

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392347507

rs_1555400601

1 SubmittersRCV000557419

NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)

SNV
Germline

Chr15:48437376

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392336847

rs_1555395229

4 SubmittersRCV000578575 RCV000663863 RCV000696097

NM_000138.5(FBN1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr15:48644767

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392454056

rs_886039072

2 SubmittersRCV000579129 RCV000631972

NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)

SNV
Germline

Chr15:48432943

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA392333555

rs_137854460

3 SubmittersRCV000583145 RCV000816412

NM_000138.5(FBN1):c.4088-2A>C

SNV
Germline

Chr15:48474379

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

CA392320388

rs_1555397671

1 SubmittersRCV000581910

NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)

SNV
Germline

Chr15:48487151

Likely pathogenic

Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392325180

rs_775417975

3 SubmittersRCV000584722 RCV000586423

NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)

SNV
Germline

Chr15:48497311

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

CA392335678

rs_1555399368

3 SubmittersRCV000582885 RCV000800470 RCV001374794

NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)

SNV
Germline

Chr15:48432916

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392333422

rs_1555394904

4 SubmittersRCV000585051 RCV000805754 RCV002315879 RCV001331013

NM_000138.5(FBN1):c.7819+3A>C

SNV
Germline

Chr15:48420684

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA658683891

rs_1555394135

4 SubmittersRCV000586667 RCV000663982 RCV000795274

NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)

SNV
Germline

Chr15:48425439

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA058485

rs_754047254

5 SubmittersRCV000590273 RCV004586810 RCV000793151 RCV004619347

NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)

SNV
Germline

Chr15:48448852

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome

Criteria Provided
Single Submitter

CA392342167

rs_1555395987

2 SubmittersRCV000585910 RCV000663800

NM_000138.5(FBN1):c.5422+2T>C

SNV
Germline

Chr15:48456635

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392345768

rs_1555396417

2 SubmittersRCV000589209 RCV002530895

NM_000138.5(FBN1):c.4337-1G>A

SNV
Germline

Chr15:48470757

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392354863

rs_1555397424

2 SubmittersRCV000589527 RCV002289885

NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)

SNV
Germline

Chr15:48474593

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA269520550

rs_140638

4 SubmittersRCV000590567 RCV000989325 RCV001065647

NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)

SNV
Germline

Chr15:48485379

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Reviewed By Expert Panel

CA392324303

rs_1555398377

4 SubmittersRCV000589739 RCV001064638 RCV003476881

NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter)

SNV
Germline

Chr15:48489909

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392328996

rs_1057523654

1 SubmittersRCV000588119

NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe)

SNV
Germline

Chr15:48489994

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392329615

rs_1555398816

1 SubmittersRCV000589015

NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)

SNV
Germline

Chr15:48490073

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA392330212

rs_1555398835

15 SubmittersRCV000589223 RCV000632026 RCV000756140 RCV001249314 RCV002438522 RCV004530637

NM_000138.5(FBN1):c.1961-14T>C

SNV
Germline

Chr15:48503953

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA046443

rs_373918202

4 SubmittersRCV000607599 RCV002061970 RCV004002399

NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser)

SNV
Germline

Chr15:48505069

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392339043

rs_878853676

1 SubmittersRCV000587588

NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly)

SNV
Germline

Chr15:48505138

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA269550127

rs_25457

2 SubmittersRCV000590722 RCV002530890

NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser)

SNV
Germline

Chr15:48513626

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392342609

rs_1156747241

1 SubmittersRCV000586374

NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)

SNV
Germline

Chr15:48515435

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392343762

rs_1555400380

2 SubmittersRCV004767423 RCV003767325

NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)

SNV
Germline

Chr15:48526207

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA392350265

rs_1555401011

4 SubmittersRCV000587808 RCV000769657 RCV004776291

NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)

SNV
Germline

Chr15:48600180

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392446521

rs_1555405043

5 SubmittersRCV000588574 RCV000663684 RCV000692837 RCV001090827

NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)

SNV
Germline

Chr15:48412654

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA059664

rs_772795413

4 SubmittersRCV001185315 RCV001215047 RCV003488708 RCV004002413

NM_000138.5(FBN1):c.385T>A (p.Cys129Ser)

SNV
Germline

Chr15:48600196

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392446560

rs_199474693

1 SubmittersRCV000586738

NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)

SNV
Germline

Chr15:48644680

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA060356

rs_778831047

3 SubmittersRCV000586371 RCV003767335 RCV004002415

NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)

SNV
Germline

Chr15:48421963

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome 2, dominant
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA058775

rs_763759308

6 SubmittersRCV000589359 RCV000696576 RCV000772492 RCV003336084 RCV004002410

NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)

SNV
Germline

Chr15:48422021

Conflicting classifications of pathogenicity

Condition: not provided
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA058702

rs_371110611

3 SubmittersRCV000589325 RCV002483564 RCV003767333

NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)

SNV
Germline

Chr15:48427755

Likely pathogenic

Condition: not provided
Marfan syndrome

Reviewed By Expert Panel

CA392330332

rs_1555394580

3 SubmittersRCV000590370 RCV000826164

NM_000138.5(FBN1):c.5423-15C>A

SNV
Germline

Chr15:48452699

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA617838152

rs_1426894149

2 SubmittersRCV000586354 RCV002530896

NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)

SNV
Germline

Chr15:48474302

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392320168

rs_749196340

2 SubmittersRCV000587482 RCV002298701

NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)

SNV
Germline

Chr15:48487107

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA392324980

rs_1555398511

4 SubmittersRCV000589146 RCV000663651 RCV001211039

NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)

SNV
Germline

Chr15:48488430

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA392328099

rs_1555398670

4 SubmittersRCV000820499 RCV001374765 RCV002246000 RCV003317292

NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)

SNV
Germline

Chr15:48411024

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392318457

rs_747213800

3 SubmittersRCV000587931 RCV004002414 RCV002530898

NM_000138.5(FBN1):c.164+2T>A

SNV
Germline

Chr15:48644604

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392453390

rs_727503058

1 SubmittersRCV000586947

NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)

SNV
Germline

Chr15:48427768

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392330360

rs_794728262

2 SubmittersRCV000588390 RCV003767332

NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)

SNV
Germline

Chr15:48437805

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392336968

rs_1555395260

2 SubmittersRCV000587128 RCV003767331

NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)

SNV
Germline

Chr15:48446751

Pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Reviewed By Expert Panel

CA392341191

rs_1555395826

9 SubmittersRCV000589788 RCV000663814 RCV001240585 RCV004024673 RCV004722960

NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)

SNV
Germline

Chr15:48452567

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392343878

rs_1555396185

2 SubmittersRCV000589454 RCV003767328

NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)

SNV
Germline

Chr15:48463950

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA269548272

rs_112930491

3 SubmittersRCV000588782 RCV000813638 RCV003318603

NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)

SNV
Germline

Chr15:48472566

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Acromicric dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA052488

rs_372118067

7 SubmittersRCV000587537 RCV000810940 RCV001119298 RCV001117738 RCV001117739 RCV001117740 RCV001119296 RCV001117741 RCV001119297

NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)

SNV
Germline

Chr15:48420722

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392324563

rs_397515857

3 SubmittersRCV000588232 RCV000803256 RCV003302901

NM_000138.5(FBN1):c.7732C>T (p.Gln2578Ter)

SNV
Germline

Chr15:48420774

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

CA392324780

rs_765942432

1 SubmittersRCV000589865

NM_000138.5(FBN1):c.6379+9C>T

SNV
Germline

Chr15:48437313

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA658683886

rs_1555395223

2 SubmittersRCV000588957 RCV002061972

NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)

SNV
Germline

Chr15:48445419

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA392340013

rs_1555395750

3 SubmittersRCV000588466 RCV001390032 RCV001002491

NM_000138.5(FBN1):c.5672-6T>A

SNV
Germline

Chr15:48446828

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA658683892

rs_1555395850

3 SubmittersRCV000587799 RCV003767330 RCV003528197

NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys)

SNV
Germline

Chr15:48487089

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA051106

rs_751764864

3 SubmittersRCV000589858 RCV000772495 RCV004002406

NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)

SNV
Germline

Chr15:48487313

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA050693

rs_144339604

5 SubmittersRCV000589547 RCV000806888 RCV003444604 RCV001185323

NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)

SNV
Germline

Chr15:48487362

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
8 conditions
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392326397

rs_397515791

4 SubmittersRCV000588454 RCV001027821 RCV002246001 RCV002530892

NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)

SNV
Germline

Chr15:48487395

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392326583

rs_1064794882

3 SubmittersRCV000587101 RCV001853974

NM_000138.5(FBN1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr15:48644769

Pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA392454066

rs_730880097

4 SubmittersRCV000587707 RCV000663511 RCV002315883

NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)

SNV
Germline

Chr15:48497322

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16602231

rs_1555399372

7 SubmittersRCV000590010 RCV001058020 RCV002245999 RCV002286762 RCV003224806

NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)

SNV
Germline

Chr15:48499021

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Thoracic aortic aneurysm or dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392336329

rs_1555399481

3 SubmittersRCV000588202 RCV002420559 RCV004782456

NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)

SNV
Germline

Chr15:48505097

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA392339102

rs_1555399821

1 SubmittersRCV000590583

NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)

SNV
Germline

Chr15:48505135

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA392339186

rs_1555399836

5 SubmittersRCV000587166 RCV000663505 RCV001070382

NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)

SNV
Germline

Chr15:48510128

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA392341228

rs_1555400063

3 SubmittersRCV000587875 RCV001045370 RCV004776289

NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)

SNV
Germline

Chr15:48515396

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392343581

rs_1555400374

2 SubmittersRCV000587349 RCV001811087

NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)

SNV
Germline

Chr15:48452591

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA055100

rs_758725993

4 SubmittersRCV000594744 RCV001867991 RCV002483657 RCV004002467

NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)

SNV
Germline

Chr15:48513656

Likely pathogenic

Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

CA392342805

rs_1057518881

4 SubmittersRCV000594033 RCV000663463 RCV002531108

NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)

SNV
Germline

Chr15:48422024

Likely pathogenic

Marfan syndrome
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA269519926

rs_363810

2 SubmittersRCV000611583 RCV002498882

NM_000138.5(FBN1):c.5918-12T>G

SNV
Germline

Chr15:48444672

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA055835

rs_751115639

4 SubmittersRCV000613201 RCV003767574 RCV004002533

NM_000138.5(FBN1):c.3837A>G (p.Val1279=)

SNV
Germline

Chr15:48483819

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA269525957

rs_59007872

7 SubmittersRCV001181637 RCV001719068 RCV002498967 RCV003767725 RCV004002598

NM_000138.5(FBN1):c.2854+5A>G

SNV
Germline

Chr15:48492456

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA049010

rs_762989672

5 SubmittersRCV000632020 RCV001704741 RCV002438563 RCV004002505

NM_000138.5(FBN1):c.1146C>T (p.Thr382=)

SNV
Germline

Chr15:48520660

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA269562436

rs_889875676

4 SubmittersRCV000607864 RCV001860318 RCV004822129 RCV004002577

NM_000138.5(FBN1):c.7700-13G>C

SNV
Germline

Chr15:48420819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059041

rs_775509707

5 SubmittersRCV001697985 RCV001177327 RCV002064084 RCV004002552 RCV003323633

NM_000138.5(FBN1):c.346+16C>T

SNV
Germline

Chr15:48610712

Conflicting classifications of pathogenicity

not specified
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA050661

rs_369090026

4 SubmittersRCV000602870 RCV002491264 RCV002531557

NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)

SNV
Germline

Chr15:48412572

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA059776

rs_150065311

4 SubmittersRCV000605870 RCV002315929 RCV001489624 RCV004802293

NM_000138.5(FBN1):c.7820-4G>A

SNV
Germline

Chr15:48415771

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Marfan syndrome
Geleophysic dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome

Criteria Provided
Conflicting Classifications

CA059248

rs_750036723

3 SubmittersRCV000603775 RCV001120097 RCV001120092 RCV001120093 RCV001120094 RCV001120095 RCV001120096 RCV001120098

NM_000138.5(FBN1):c.1468+4C>T

SNV
Germline

Chr15:48515383

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA044757

rs_765579667

5 SubmittersRCV000600067 RCV001181631 RCV004002596 RCV001860329

NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)

SNV
Germline

Chr15:48420718

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392324548

rs_1555394142

3 SubmittersRCV000611011 RCV003767738

NM_000138.5(FBN1):c.5917+6T>C

SNV
Germline

Chr15:48445370

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA645584727

rs_1555395742

2 SubmittersRCV000615772 RCV005001993

NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)

SNV
Germline

Chr15:48490037

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA392329953

rs_1555398830

2 SubmittersRCV000600367 RCV001228545

NM_000138.5(FBN1):c.2168-1G>T

SNV
Germline

Chr15:48497392

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA392335952

rs_1555399387

2 SubmittersRCV000609898 RCV001224813

NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)

SNV
Germline

Chr15:48415573

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
MASS syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392322650

rs_1555393833

3 SubmittersRCV000632014 RCV001535542 RCV002314297

NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)

SNV
Germline

Chr15:48415610

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392322844

rs_1555393844

3 SubmittersRCV000631898 RCV002246004 RCV002313283

NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)

SNV
Germline

Chr15:48421640

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA490015699

rs_1388794275

5 SubmittersRCV001186060 RCV000757278 RCV004002722 RCV003767798

NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)

SNV
Germline

Chr15:48425419

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392327788

rs_1555394400

2 SubmittersRCV002313272 RCV002531821

NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser)

SNV
Germline

Chr15:48425440

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392327866

rs_1555394405

2 SubmittersRCV001039062 RCV002313268

NM_000138.5(FBN1):c.7330+1G>A

SNV
Germline

Chr15:48425738

Pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392328478

rs_1555394433

2 SubmittersRCV001779026 RCV002314337

NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)

SNV
Germline

Chr15:48425829

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA269520797

rs_112550005

11 SubmittersRCV000663940 RCV000693611 RCV000769622 RCV004737896

NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)

SNV
Germline

Chr15:48430791

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392332895

rs_112836174

2 SubmittersRCV001238290 RCV002313267

NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)

SNV
Germline

Chr15:48434656

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA269524605

rs_910656654

4 SubmittersRCV000663877 RCV000812728 RCV002314300

NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter)

SNV
Germline

Chr15:48437768

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392336885

rs_794728247

2 SubmittersRCV002314346 RCV002531820

NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)

SNV
Germline

Chr15:48444611

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392339799

rs_1555395652

2 SubmittersRCV002314360 RCV003767801

NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)

SNV
Germline

Chr15:48444627

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392339832

rs_1555395658

4 SubmittersRCV000663838 RCV002313276 RCV002265820 RCV003767803

NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala)

SNV
Germline

Chr15:48444651

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392339887

rs_1555395665

2 SubmittersRCV002314352 RCV003767799

NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)

SNV
Germline

Chr15:48452589

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Thoracic aortic aneurysm or dissection
not specified

Reviewed By Expert Panel

CA055122

rs_765387131

9 SubmittersRCV001584440 RCV002313269 RCV003106002 RCV003889938 RCV004782473 RCV004701709

NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)

SNV
Germline

Chr15:48456714

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392346189

rs_1555396429

3 SubmittersRCV000989317 RCV001553019 RCV002314348

NM_000138.5(FBN1):c.4816+1G>T

SNV
Germline

Chr15:48465789

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392351517

rs_1555397014

4 SubmittersRCV000663750 RCV002314299 RCV002531817

NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)

SNV
Germline

Chr15:48468096

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392353177

rs_778710767

3 SubmittersRCV001220153 RCV002246002 RCV002314296

NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)

SNV
Germline

Chr15:48472644

Likely pathogenic

Marfan syndrome
Abnormality of connective tissue
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392318000

rs_1555397557

3 SubmittersRCV000663702 RCV001814198 RCV002314309

NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr)

SNV
Germline

Chr15:48474260

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392319891

rs_1555397646

2 SubmittersRCV000797825 RCV002313281

NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)

SNV
Germline

Chr15:48474533

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392320408

rs_1555397704

4 SubmittersRCV000663692 RCV002314323 RCV002531819

NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)

SNV
Germline

Chr15:48474540

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

CA051965

rs_202192505

4 SubmittersRCV001770550 RCV001868124 RCV002314353 RCV002477356

NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)

SNV
Germline

Chr15:48481656

Likely pathogenic

Cardiovascular phenotype
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA269523924

rs_140648

4 SubmittersRCV000621176 RCV000663678 RCV002531859

NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)

SNV
Germline

Chr15:48485463

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392324601

rs_1555398406

3 SubmittersRCV000663656 RCV001378722 RCV002314341

NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)

SNV
Germline

Chr15:48488452

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392328152

rs_1555398681

4 SubmittersRCV002250670 RCV002314188 RCV002483725 RCV002531809

NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)

SNV
Germline

Chr15:48492542

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA048830

rs_149681175

8 SubmittersRCV000781376 RCV001558691 RCV001180582 RCV001868123 RCV002483728 RCV004002724

NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)

SNV
Germline

Chr15:48494209

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA392331594

rs_1057523406

5 SubmittersRCV000780256 RCV001093337 RCV001374786 RCV002314328 RCV004722982

NM_000138.5(FBN1):c.2673A>G (p.Gln891=)

SNV
Germline

Chr15:48495127

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA490021918

rs_1555399143

4 SubmittersRCV000788969 RCV001062663 RCV002315948

NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)

SNV
Germline

Chr15:48495200

Conflicting classifications of pathogenicity

8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048174

rs_145464311

7 SubmittersRCV000763968 RCV001176306 RCV002532809 RCV004533281 RCV004002732 RCV004808802

NM_000138.5(FBN1):c.2419+1G>A

SNV
Germline

Chr15:48496099

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392335047

rs_1555399257

2 SubmittersRCV001256946 RCV002314315

NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)

SNV
Germline

Chr15:48497272

Likely pathogenic

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

CA392335589

rs_1555399361

4 SubmittersRCV000781359 RCV001377643 RCV002314349 RCV003476883

NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)

SNV
Germline

Chr15:48497301

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA392335652

rs_1555399365

4 SubmittersRCV000663524 RCV001384614 RCV001374793 RCV002313282

NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)

SNV
Germline

Chr15:48503825

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

CA269548916

rs_955639059

7 SubmittersRCV001181544 RCV001591387 RCV002477357 RCV002531822 RCV004002731 RCV004737897

NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)

SNV
Germline

Chr15:48503850

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392338320

rs_1555399764

4 SubmittersRCV000663513 RCV001860397 RCV002314307 RCV004701708

NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)

SNV
Germline

Chr15:48510119

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA045360

rs_759813328

4 SubmittersRCV001320564 RCV001189727 RCV004002728

NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)

SNV
Germline

Chr15:48516194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044257

rs_568810058

5 SubmittersRCV001002368 RCV000772653 RCV001868121 RCV003322795

NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)

SNV
Germline

Chr15:48520689

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA043561

rs_766162654

5 SubmittersRCV001347916 RCV001189729 RCV004002723 RCV004525987

NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)

SNV
Germline

Chr15:48596325

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392446313

rs_363852

3 SubmittersRCV001382242 RCV002314332 RCV004760648

NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)

SNV
Germline

Chr15:48596373

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392446408

rs_1555404819

2 SubmittersRCV002314324 RCV003767796

NM_000138.5(FBN1):c.347-2A>G

SNV
Germline

Chr15:48600236

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392446647

rs_1555405056

4 SubmittersRCV000663644 RCV001389969 RCV002314316

NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)

SNV
Germline

Chr15:48411076

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA392318647

rs_1555393510

1 SubmittersRCV000623363

NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)

SNV
Germline

Chr15:48448813

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392341877

rs_1555395980

4 SubmittersRCV000623517 RCV000659555 RCV002343175

NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)

SNV
Germline

Chr15:48494236

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

CA392331688

rs_1555399094

1 SubmittersRCV000624915

NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)

SNV
Germline

Chr15:48497343

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392335750

rs_1555399378

3 SubmittersRCV000622311 RCV000663522

NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)

SNV
Germline

Chr15:48505081

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392339070

rs_1555399816

9 SubmittersRCV000623741 RCV000684933 RCV001171259 RCV004702203

NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)

SNV
Germline

Chr15:48444579

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392339674

rs_1555395645

3 SubmittersRCV002532843 RCV004025276 RCV004764793

NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)

SNV
Germline

Chr15:48474558

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392320464

rs_187177496

7 SubmittersRCV000781366 RCV001179399 RCV002483751 RCV002532845 RCV003147524

NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter)

SNV
Germline

Chr15:48428361

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA057638

rs_371097218

3 SubmittersRCV000627264 RCV004017702

NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)

SNV
Germline

Chr15:48483861

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Single Submitter

CA392323784

rs_1555398278

2 SubmittersRCV000627262 RCV000663666

NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)

SNV
Germline

Chr15:48415548

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA059476

rs_748934203

3 SubmittersRCV000631922 RCV001170298 RCV004702216

NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)

SNV
Germline

Chr15:48421610

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA490015650

rs_1184032259

2 SubmittersRCV002060717 RCV004003822

NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)

SNV
Germline

Chr15:48421990

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392325908

rs_1555394238

5 SubmittersRCV000631936 RCV000663961 RCV001591408 RCV003485619

NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)

SNV
Germline

Chr15:48427637

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392329546

rs_1555394562

1 SubmittersRCV000631977

NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter)

SNV
Germline

Chr15:48448849

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392342138

rs_1555395985

1 SubmittersRCV000631991

NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser)

SNV
Germline

Chr15:48474366

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392320359

rs_1555397670

1 SubmittersRCV000631932

NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)

SNV
Germline

Chr15:48474584

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial ectopia lentis

Criteria Provided
Multiple Submitters
No Conflicts

CA392320523

rs_1555397725

2 SubmittersRCV000631964 RCV002282272

NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter)

SNV
Germline

Chr15:48487367

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392326422

rs_1555398564

1 SubmittersRCV000631955

NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)

SNV
Germline

Chr15:48456642

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392345808

rs_1555396418

4 SubmittersRCV000632006 RCV002463364 RCV003226342 RCV004822135

NM_000138.5(FBN1):c.4816+1G>C

SNV
Germline

Chr15:48465789

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392351519

rs_1555397014

1 SubmittersRCV000631900

NM_000138.5(FBN1):c.4748-9T>C

SNV
Germline

Chr15:48465867

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA053686

rs_760640909

2 SubmittersRCV000632055 RCV004003823

NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr)

SNV
Germline

Chr15:48468484

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392353614

rs_1555397211

1 SubmittersRCV000631947

NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)

SNV
Germline

Chr15:48470751

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA052708

rs_371377334

4 SubmittersRCV000631904 RCV001188154 RCV002507063 RCV004003813

NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)

SNV
Germline

Chr15:48489956

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392329308

rs_1206813753

3 SubmittersRCV000631974 RCV000757280 RCV004003817

NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)

SNV
Germline

Chr15:48496177

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392335455

rs_1555399271

3 SubmittersRCV000632029 RCV000663531 RCV003162803

NM_000138.5(FBN1):c.1915T>C (p.Cys639Arg)

SNV
Germline

Chr15:48505070

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392339045

rs_1060501078

1 SubmittersRCV000632010

NM_000138.5(FBN1):c.1177A>G (p.Met393Val)

SNV
Germline

Chr15:48516333

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA269559834

rs_983129867

3 SubmittersRCV000631958 RCV002331115 RCV004003815

NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)

SNV
Germline

Chr15:48600181

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA392446523

rs_1555405044

2 SubmittersRCV000631901 RCV000663682

NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter)

SNV
Germline

Chr15:48421652

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392325737

rs_113544411

5 SubmittersRCV000631966 RCV000659581 RCV001508767

NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys)

SNV
Germline

Chr15:48425771

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392328543

rs_1555394437

1 SubmittersRCV000631987

NM_000138.5(FBN1):c.6380-2A>G

SNV
Germline

Chr15:48437079

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392336727

rs_886041482

1 SubmittersRCV000631949

NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr)

SNV
Germline

Chr15:48441726

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392337901

rs_363805

1 SubmittersRCV000631911

NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)

SNV
Germline

Chr15:48444648

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392339879

rs_1555395663

3 SubmittersRCV000631921 RCV000663836 RCV004822134

NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly)

SNV
Germline

Chr15:48468534

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392353834

rs_1555397216

3 SubmittersRCV000632009 RCV002470939 RCV004721502

NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp)

SNV
Germline

Chr15:48474571

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392320490

rs_1555397719

1 SubmittersRCV000632000

NM_000138.5(FBN1):c.3610A>G (p.Met1204Val)

SNV
Germline

Chr15:48485476

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269527212

rs_775707895

2 SubmittersRCV000632007 RCV003148810

NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)

SNV
Germline

Chr15:48489921

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392329038

rs_397515784

4 SubmittersRCV000631956 RCV000663594

NM_000138.5(FBN1):c.2986T>C (p.Cys996Arg)

SNV
Germline

Chr15:48489947

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA269533518

rs_140592

1 SubmittersRCV000631920

NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr)

SNV
Germline

Chr15:48492538

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392330722

rs_1555398989

3 SubmittersRCV000632027 RCV000663579

NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu)

SNV
Germline

Chr15:48495149

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392332107

rs_1555399149

1 SubmittersRCV000632001

NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)

SNV
Germline

Chr15:48537646

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392445853

rs_1555401670

3 SubmittersRCV000631953 RCV000663922 RCV000788188

NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg)

SNV
Germline

Chr15:48411273

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392319559

rs_1555393553

1 SubmittersRCV000631973

NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter)

SNV
Germline

Chr15:48412622

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392320894

rs_1555393652

1 SubmittersRCV000631950

NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg)

SNV
Germline

Chr15:48415633

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392322971

rs_1555393858

1 SubmittersRCV000631990

NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)

SNV
Germline

Chr15:48425457

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392327946

rs_1555394408

1 SubmittersRCV000632017

NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter)

SNV
Germline

Chr15:48427679

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392329883

rs_1555394569

1 SubmittersRCV000631939

NM_000138.5(FBN1):c.6998-2A>T

SNV
Germline

Chr15:48427775

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392330377

rs_1555394585

1 SubmittersRCV000631902

NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)

SNV
Germline

Chr15:48434600

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA392334606

rs_1555395001

3 SubmittersRCV000631924 RCV000678261

NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)

SNV
Germline

Chr15:48452666

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054988

rs_775463311

4 SubmittersRCV000631993 RCV001805765 RCV004003818 RCV004722994

NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr)

SNV
Germline

Chr15:48463991

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392350335

rs_1555396859

1 SubmittersRCV000632030

NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter)

SNV
Germline

Chr15:48483878

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA392323887

rs_1555398283

2 SubmittersRCV000631942 RCV002343214

NM_000138.5(FBN1):c.3337+1G>T

SNV
Germline

Chr15:48488112

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392326962

rs_397515789

1 SubmittersRCV000631919

NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu)

SNV
Germline

Chr15:48497301

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392335654

rs_1555399365

1 SubmittersRCV000631941

NM_000138.5(FBN1):c.1837+5G>A

SNV
Germline

Chr15:48508577

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

CA617839729

rs_1445085747

10 SubmittersRCV000631930 RCV000663500 RCV001536170 RCV002413803 RCV002507064 RCV003117440

NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)

SNV
Germline

Chr15:48510155

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA392341345

rs_1485432119

5 SubmittersRCV000632015 RCV002307566 RCV002483786 RCV003528215 RCV004003819

NM_000138.5(FBN1):c.1589-1G>A

SNV
Germline

Chr15:48510170

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

CA392341424

rs_1555400077

1 SubmittersRCV000631994

NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)

SNV
Germline

Chr15:48492578

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398996

2 SubmittersRCV000658091 RCV003767892

NM_000138.5(FBN1):c.442+1G>A

SNV
Germline

Chr15:48600138

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_868403743

5 SubmittersRCV000658447 RCV000807677 RCV002485499 RCV003528217

NM_000138.5(FBN1):c.1715-8A>G

SNV
Germline

Chr15:48508712

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1555399978

2 SubmittersRCV000658711 RCV003767900

NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)

SNV
Germline

Chr15:48420706

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1404133653

2 SubmittersRCV000659582 RCV001542062

NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)

SNV
Germline

Chr15:48422024

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_363810

3 SubmittersRCV000659579 RCV001379808 RCV002388165

NM_000138.5(FBN1):c.7205-2A>C

SNV
Germline

Chr15:48425866

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394450

1 SubmittersRCV000659577

NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)

SNV
Germline

Chr15:48427570

Conflicting classifications of pathogenicity

Connective tissue disorder
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_771260695

7 SubmittersRCV000659576 RCV000663935 RCV001180126 RCV002271548 RCV002534322

NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)

SNV
Germline

Chr15:48427756

Pathogenic/Likely pathogenic

Marfan syndrome
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394581

2 SubmittersRCV000659574 RCV001374816

NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)

SNV
Germline

Chr15:48436966

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555395189

4 SubmittersRCV000659565 RCV003767911

NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)

SNV
Germline

Chr15:48437827

Likely pathogenic

Marfan syndrome

Reviewed By Expert Panel

rs_1555395261

3 SubmittersRCV000659562

NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)

SNV
Germline

Chr15:48437837

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1052480459

3 SubmittersRCV000659561 RCV000686791 RCV002066961

NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)

SNV
Germline

Chr15:48445467

Pathogenic

Marfan syndrome
Weill-Marchesani syndrome
Stiff skin syndrome
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_363806

4 SubmittersRCV000659558 RCV001116072 RCV001116073 RCV001116074 RCV001120997 RCV001116071

NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)

SNV
Germline

Chr15:48446706

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395820

3 SubmittersRCV000659557 RCV002352071

NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg)

SNV
Germline

Chr15:48456643

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555396419

2 SubmittersRCV000659554 RCV003767909

NM_000138.5(FBN1):c.5296+6T>C

SNV
Germline

Chr15:48460240

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1555396629

2 SubmittersRCV000659553 RCV003767908

NM_000138.5(FBN1):c.5065+1G>T

SNV
Germline

Chr15:48463898

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1296209846

3 SubmittersRCV000659551 RCV003126898 RCV002534321

NM_000138.5(FBN1):c.5065+1G>C

SNV
Germline

Chr15:48463898

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1296209846

5 SubmittersRCV000659550 RCV000696440 RCV002275146

NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr)

SNV
Germline

Chr15:48463943

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728233

2 SubmittersRCV000659549 RCV001231718

NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe)

SNV
Germline

Chr15:48463976

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555396853

2 SubmittersRCV000659548 RCV000702091

NM_000138.5(FBN1):c.4943-1G>A

SNV
Germline

Chr15:48464022

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555396863

2 SubmittersRCV000659547

NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)

SNV
Germline

Chr15:48468456

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397204

2 SubmittersRCV000659545 RCV001509493

NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr)

SNV
Germline

Chr15:48468504

Pathogenic/Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397212

2 SubmittersRCV000659543

NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)

SNV
Germline

Chr15:48474302

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

rs_749196340

9 SubmittersRCV000659540 RCV001180615 RCV000817718 RCV001374761 RCV002285393 RCV002485503

NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro)

SNV
Germline

Chr15:48485383

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1555398382

2 SubmittersRCV000659531 RCV003485624

NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp)

SNV
Germline

Chr15:48485469

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398409

1 SubmittersRCV000659530

NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)

SNV
Germline

Chr15:48487106

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398510

2 SubmittersRCV000659529 RCV002534320

NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr)

SNV
Germline

Chr15:48487146

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398520

2 SubmittersRCV000659528 RCV003767907

NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)

SNV
Germline

Chr15:48487188

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555398524

4 SubmittersRCV000659526 RCV003767906

NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)

SNV
Germline

Chr15:48487365

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_137854456

7 SubmittersRCV000659525 RCV001538393 RCV001182733 RCV002235656 RCV001360976 RCV002499136 RCV004802349

NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)

SNV
Germline

Chr15:48488419

Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398667

2 SubmittersRCV000659524

NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)

SNV
Germline

Chr15:48503849

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399763

2 SubmittersRCV000659512 RCV000702648

NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)

SNV
Germline

Chr15:48526205

Conflicting classifications of pathogenicity

Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_758035051

4 SubmittersRCV000659504 RCV001180614 RCV002534319 RCV004004197

NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter)

SNV
Germline

Chr15:48411070

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393508

1 SubmittersRCV000664031

NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)

SNV
Germline

Chr15:48411159

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393532

2 SubmittersRCV000664025 RCV000803523

NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)

SNV
Germline

Chr15:48411229

Conflicting classifications of pathogenicity

Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_113722038

3 SubmittersRCV000664021

NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)

SNV
Germline

Chr15:48411307

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771437236

9 SubmittersRCV000664018 RCV000704657 RCV001180131 RCV002477477 RCV003235332

NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)

SNV
Germline

Chr15:48415572

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393831

1 SubmittersRCV000664007

NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)

SNV
Germline

Chr15:48415572

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393831

2 SubmittersRCV000664006 RCV003767940

NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)

SNV
Germline

Chr15:48415605

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_112196241

3 SubmittersRCV000664004 RCV000700112 RCV001811435

NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)

SNV
Germline

Chr15:48415612

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393847

2 SubmittersRCV000664002 RCV003767939

NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)

SNV
Germline

Chr15:48415651

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1555393863

2 SubmittersRCV000663999 RCV004794432

NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)

SNV
Germline

Chr15:48415666

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393866

2 SubmittersRCV000663996 RCV000792559

NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)

SNV
Germline

Chr15:48415695

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_111856492

4 SubmittersRCV000663993 RCV001233363 RCV004760683

NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)

SNV
Germline

Chr15:48415716

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_113935744

4 SubmittersRCV000663989 RCV001045640

NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)

SNV
Germline

Chr15:48415723

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393882

2 SubmittersRCV000663988 RCV002530617

NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)

SNV
Germline

Chr15:48415723

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393882

1 SubmittersRCV000663987

NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)

SNV
Germline

Chr15:48415737

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393886

1 SubmittersRCV000663986

NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)

SNV
Germline

Chr15:48415758

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393889

1 SubmittersRCV000663984

NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter)

SNV
Germline

Chr15:48420726

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394144

1 SubmittersRCV000663977

NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)

SNV
Germline

Chr15:48420760

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394148

1 SubmittersRCV000663975

NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)

SNV
Germline

Chr15:48420764

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555394149

2 SubmittersRCV000663974 RCV002397349

NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)

SNV
Germline

Chr15:48420794

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394153

1 SubmittersRCV000663971

NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)

SNV
Germline

Chr15:48420794

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394153

5 SubmittersRCV000663970 RCV001269524

NM_000138.5(FBN1):c.7699+1G>A

SNV
Germline

Chr15:48421557

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394189

4 SubmittersRCV000663968 RCV001386158 RCV002397348

NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)

SNV
Germline

Chr15:48421654

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394212

1 SubmittersRCV000663965

NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)

SNV
Germline

Chr15:48421956

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394235

1 SubmittersRCV000663962

NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)

SNV
Germline

Chr15:48422035

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394245

2 SubmittersRCV000663958 RCV000696120

NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)

SNV
Germline

Chr15:48422036

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394246

1 SubmittersRCV000663957

NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)

SNV
Germline

Chr15:48422057

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1057520728

1 SubmittersRCV000663956

NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser)

SNV
Germline

Chr15:48425374

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394390

1 SubmittersRCV000663955

NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)

SNV
Germline

Chr15:48425375

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394391

3 SubmittersRCV000663954 RCV002530616

NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)

SNV
Germline

Chr15:48425390

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_537570299

2 SubmittersRCV000663953

NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)

SNV
Germline

Chr15:48425412

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394397

3 SubmittersRCV000663952 RCV000698225 RCV001170300

NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)

SNV
Germline

Chr15:48425413

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394398

2 SubmittersRCV000663951 RCV001221828

NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)

SNV
Germline

Chr15:48425414

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394399

3 SubmittersRCV000663950 RCV002386138 RCV004721533

NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)

SNV
Germline

Chr15:48425424

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394402

3 SubmittersRCV000663949 RCV002532028

NM_000138.5(FBN1):c.7331-1G>C

SNV
Germline

Chr15:48425492

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394412

1 SubmittersRCV000663946

NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)

SNV
Germline

Chr15:48425745

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394435

3 SubmittersRCV000663944 RCV003767938

NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)

SNV
Germline

Chr15:48425817

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394441

2 SubmittersRCV000663942

NM_000138.5(FBN1):c.7204+2T>C

SNV
Germline

Chr15:48427565

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394556

1 SubmittersRCV000663937

NM_000138.5(FBN1):c.7204+1G>T

SNV
Germline

Chr15:48427566

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555394557

4 SubmittersRCV000663936 RCV001381120

NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter)

SNV
Germline

Chr15:48427687

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394570

1 SubmittersRCV000663929

NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter)

SNV
Germline

Chr15:48427689

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_397515844

2 SubmittersRCV000663928 RCV001048443

NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter)

SNV
Germline

Chr15:48427757

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394582

1 SubmittersRCV000663921

NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter)

SNV
Germline

Chr15:48428350

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_534811966

2 SubmittersRCV000663919 RCV003767937

NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)

SNV
Germline

Chr15:48428391

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_111588631

3 SubmittersRCV000663917 RCV003767936

NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter)

SNV
Germline

Chr15:48428394

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394628

1 SubmittersRCV000663916

NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe)

SNV
Germline

Chr15:48428396

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394629

2 SubmittersRCV000663915 RCV003767935

NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)

SNV
Germline

Chr15:48428396

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394629

2 SubmittersRCV000663914

NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)

SNV
Germline

Chr15:48428460

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394644

2 SubmittersRCV000663909 RCV001224797

NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)

SNV
Germline

Chr15:48428462

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394647

1 SubmittersRCV000663908

NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter)

SNV
Germline

Chr15:48430686

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394756

1 SubmittersRCV000663906

NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)

SNV
Germline

Chr15:48430698

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

rs_765205164

5 SubmittersRCV000663905 RCV001180130 RCV001855423 RCV004782493

NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)

SNV
Germline

Chr15:48430741

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_886051245

2 SubmittersRCV000663904

NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg)

SNV
Germline

Chr15:48432917

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394906

1 SubmittersRCV000663891

NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser)

SNV
Germline

Chr15:48432977

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_794728253

1 SubmittersRCV000663885

NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe)

SNV
Germline

Chr15:48434599

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_886039158

1 SubmittersRCV000663883

NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter)

SNV
Germline

Chr15:48434627

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_886038976

2 SubmittersRCV000663881 RCV001388990

NM_000138.5(FBN1):c.6496+2T>G

SNV
Germline

Chr15:48436959

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395187

1 SubmittersRCV000663873

NM_000138.5(FBN1):c.6496+1G>A

SNV
Germline

Chr15:48436960

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395188

2 SubmittersRCV000663872 RCV002530614

NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)

SNV
Germline

Chr15:48436996

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_756219617

6 SubmittersRCV000663871 RCV001524957 RCV001756120 RCV001861732

NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser)

SNV
Germline

Chr15:48437033

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395203

1 SubmittersRCV000663869

NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter)

SNV
Germline

Chr15:48437069

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_794728334

1 SubmittersRCV000663866

NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)

SNV
Germline

Chr15:48437322

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1555395225

4 SubmittersRCV000663865 RCV004619373 RCV001855422

NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)

SNV
Germline

Chr15:48437370

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_363815

4 SubmittersRCV000663864 RCV001170533 RCV001374840

NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)

SNV
Germline

Chr15:48437379

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1246984265

4 SubmittersRCV000663862 RCV001069594 RCV001823158

NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser)

SNV
Germline

Chr15:48437827

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395261

1 SubmittersRCV000663857

NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr)

SNV
Germline

Chr15:48437830

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_794728245

1 SubmittersRCV000663856

NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)

SNV
Germline

Chr15:48437845

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395263

2 SubmittersRCV000663855

NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg)

SNV
Germline

Chr15:48437900

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555395267

2 SubmittersRCV000663853 RCV004822155

NM_000138.5(FBN1):c.6164-1G>C

SNV
Germline

Chr15:48437918

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1060501048

1 SubmittersRCV000663851

NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter)

SNV
Germline

Chr15:48441724

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395456

1 SubmittersRCV000663850

NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp)

SNV
Germline

Chr15:48441797

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395475

1 SubmittersRCV000663848

NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter)

SNV
Germline

Chr15:48441820

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395482

1 SubmittersRCV000663847

NM_000138.5(FBN1):c.6037G>C (p.Asp2013His)

SNV
Germline

Chr15:48444541

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395638

1 SubmittersRCV000663843

NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter)

SNV
Germline

Chr15:48444559

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395641

1 SubmittersRCV000663842

NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp)

SNV
Germline

Chr15:48444584

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395648

2 SubmittersRCV000663841 RCV001855421

NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)

SNV
Germline

Chr15:48444628

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395659

4 SubmittersRCV000663837 RCV001855420 RCV004773080

NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)

SNV
Germline

Chr15:48445381

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_111239111

2 SubmittersRCV000663831 RCV002352081

NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)

SNV
Germline

Chr15:48445382

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395745

2 SubmittersRCV000663830

NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter)

SNV
Germline

Chr15:48445484

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395766

1 SubmittersRCV000663823

NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)

SNV
Germline

Chr15:48445493

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395767

2 SubmittersRCV000663822

NM_000138.5(FBN1):c.5788+1G>T

SNV
Germline

Chr15:48446705

Pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1555395819

2 SubmittersRCV000663818 RCV001662733

NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr)

SNV
Germline

Chr15:48446706

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395820

1 SubmittersRCV000663820

NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)

SNV
Germline

Chr15:48446795

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_794728237

2 SubmittersRCV000663809

NM_000138.5(FBN1):c.5672-1G>A

SNV
Germline

Chr15:48446823

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395849

3 SubmittersRCV000663805 RCV001855419

NM_000138.5(FBN1):c.5671+7A>G

SNV
Germline

Chr15:48448761

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_751170564

3 SubmittersRCV000663804 RCV001798956 RCV003767934

NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)

SNV
Germline

Chr15:48448846

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395984

2 SubmittersRCV000663801 RCV001868190

NM_000138.5(FBN1):c.5558G>C (p.Cys1853Ser)

SNV
Germline

Chr15:48448881

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395989

1 SubmittersRCV000663799

NM_000138.5(FBN1):c.5557T>A (p.Cys1853Ser)

SNV
Germline

Chr15:48448882

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555395990

1 SubmittersRCV000663798

NM_000138.5(FBN1):c.5545+1G>A

SNV
Germline

Chr15:48452561

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1260109901

2 SubmittersRCV000663797 RCV001868189

NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg)

SNV
Germline

Chr15:48452568

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396186

1 SubmittersRCV000663795

NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe)

SNV
Germline

Chr15:48452603

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_111929350

1 SubmittersRCV000663792

NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)

SNV
Germline

Chr15:48452604

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555396198

2 SubmittersRCV000663791 RCV001855418

NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser)

SNV
Germline

Chr15:48452604

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555396198

2 SubmittersRCV000663790 RCV000690179

NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter)

SNV
Germline

Chr15:48452614

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396201

1 SubmittersRCV000663788

NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr)

SNV
Germline

Chr15:48452672

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396213

1 SubmittersRCV000663785

NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser)

SNV
Germline

Chr15:48456682

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396424

1 SubmittersRCV000663782

NM_000138.5(FBN1):c.5373T>G (p.Cys1791Trp)

SNV
Germline

Chr15:48456686

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396426

1 SubmittersRCV000663781

NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro)

SNV
Germline

Chr15:48456690

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396428

1 SubmittersRCV000663778

NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)

SNV
Germline

Chr15:48456690

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_1555396428

7 SubmittersRCV000663777 RCV000773641 RCV000788925 RCV001868188 RCV004533458

NM_000138.5(FBN1):c.5297-1G>A

SNV
Germline

Chr15:48456763

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396435

1 SubmittersRCV000663774

NM_000138.5(FBN1):c.5296+1G>C

SNV
Germline

Chr15:48460245

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396630

1 SubmittersRCV000663772

NM_000138.5(FBN1):c.5225-2A>C

SNV
Germline

Chr15:48460319

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396639

1 SubmittersRCV000663770

NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)

SNV
Germline

Chr15:48463150

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555396769

2 SubmittersRCV000663765 RCV001046972

NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)

SNV
Germline

Chr15:48463903

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555396838

2 SubmittersRCV000663761

NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg)

SNV
Germline

Chr15:48463944

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396844

1 SubmittersRCV000663759

NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)

SNV
Germline

Chr15:48463949

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_140627

2 SubmittersRCV000663758 RCV002334230

NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter)

SNV
Germline

Chr15:48465596

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396991

1 SubmittersRCV000663754

NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)

SNV
Germline

Chr15:48465612

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555396993

2 SubmittersRCV000663753 RCV000770662

NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)

SNV
Germline

Chr15:48465819

Likely pathogenic

Marfan syndrome
FBN1-related disorder

Criteria Provided
Single Submitter

rs_769588424

3 SubmittersRCV000663746 RCV004723048

NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)

SNV
Germline

Chr15:48465840

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397024

3 SubmittersRCV000663744 RCV002532027

NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp)

SNV
Germline

Chr15:48468083

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397174

1 SubmittersRCV000663741

NM_000138.5(FBN1):c.4583-1G>A

SNV
Germline

Chr15:48468103

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397176

1 SubmittersRCV000663740

NM_000138.5(FBN1):c.4582+2T>G

SNV
Germline

Chr15:48468410

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397193

1 SubmittersRCV000663738

NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly)

SNV
Germline

Chr15:48468463

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_397515811

1 SubmittersRCV000663736

NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser)

SNV
Germline

Chr15:48468483

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397209

2 SubmittersRCV000663735 RCV001868187

NM_000138.5(FBN1):c.4490G>C (p.Cys1497Ser)

SNV
Germline

Chr15:48468504

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397212

1 SubmittersRCV000663733

NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)

SNV
Germline

Chr15:48468526

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501076

3 SubmittersRCV000663731 RCV001065152 RCV002331298

NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)

SNV
Germline

Chr15:48468534

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1555397216

4 SubmittersRCV000663730 RCV003228975 RCV003767933

NM_000138.5(FBN1):c.4460-1G>C

SNV
Germline

Chr15:48468535

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_113082854

2 SubmittersRCV000663729

NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)

SNV
Germline

Chr15:48470634

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Reviewed By Expert Panel

rs_113693945

6 SubmittersRCV000663728 RCV001069593 RCV002331297 RCV004526735

NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr)

SNV
Germline

Chr15:48470639

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_111978932

1 SubmittersRCV000663727

NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)

SNV
Germline

Chr15:48470679

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555397403

4 SubmittersRCV000663725 RCV001379825

NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr)

SNV
Germline

Chr15:48470744

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397419

2 SubmittersRCV000663722 RCV001855417

NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser)

SNV
Germline

Chr15:48470745

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397421

1 SubmittersRCV000663721

NM_000138.5(FBN1):c.4337-1G>T

SNV
Germline

Chr15:48470757

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

CA346350

rs_1555397424

3 SubmittersRCV000663717 RCV001868186

NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)

SNV
Germline

Chr15:48472595

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397540

3 SubmittersRCV000663710 RCV001051451

NM_000138.5(FBN1):c.4287T>G (p.Cys1429Trp)

SNV
Germline

Chr15:48472600

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397543

1 SubmittersRCV000663709

NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr)

SNV
Germline

Chr15:48472601

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397545

4 SubmittersRCV000663707 RCV000817857 RCV004696971

NM_000138.5(FBN1):c.4285T>A (p.Cys1429Ser)

SNV
Germline

Chr15:48472602

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397546

1 SubmittersRCV000663706

NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg)

SNV
Germline

Chr15:48474366

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1555397670

2 SubmittersRCV000663696 RCV004777815

NM_000138.5(FBN1):c.4087+5G>A

SNV
Germline

Chr15:48474523

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397692

1 SubmittersRCV000663693

NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)

SNV
Germline

Chr15:48474566

Pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397718

3 SubmittersRCV000663688

NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr)

SNV
Germline

Chr15:48474566

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397718

2 SubmittersRCV000663687 RCV001855415

NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)

SNV
Germline

Chr15:48474599

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_397515798

2 SubmittersRCV000663683 RCV001052318

NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)

SNV
Germline

Chr15:48474650

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397744

2 SubmittersRCV000663679

NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe)

SNV
Germline

Chr15:48481660

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_113393517

1 SubmittersRCV000663677

NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)

SNV
Germline

Chr15:48481660

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_113393517

2 SubmittersRCV000663676 RCV001042677

NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)

SNV
Germline

Chr15:48481682

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1156984408

5 SubmittersRCV000663675 RCV000766246 RCV001868185

NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)

SNV
Germline

Chr15:48481687

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398148

2 SubmittersRCV000663674

NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)

SNV
Germline

Chr15:48481704

Likely pathogenic

Marfan syndrome
Familial aortopathy

Criteria Provided
Single Submitter

rs_1555398152

2 SubmittersRCV000663673 RCV001174728

NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys)

SNV
Germline

Chr15:48481772

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398176

1 SubmittersRCV000663670

NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val)

SNV
Germline

Chr15:48481780

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398179

1 SubmittersRCV000663669

NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg)

SNV
Germline

Chr15:48485380

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398380

1 SubmittersRCV000663661

NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)

SNV
Germline

Chr15:48485430

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398394

6 SubmittersRCV000663660 RCV000788488

NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)

SNV
Germline

Chr15:48485436

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_1555398397

4 SubmittersRCV000663659 RCV000706570

NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser)

SNV
Germline

Chr15:48485445

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398401

1 SubmittersRCV000663658

NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr)

SNV
Germline

Chr15:48485484

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398413

1 SubmittersRCV000663654

NM_000138.5(FBN1):c.3589+1G>T

SNV
Germline

Chr15:48487074

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398501

1 SubmittersRCV000663653

NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)

SNV
Germline

Chr15:48487110

Likely pathogenic

Marfan syndrome

Reviewed By Expert Panel

rs_1555398512

4 SubmittersRCV000663650

NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr)

SNV
Germline

Chr15:48487125

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398513

2 SubmittersRCV000663649

NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)

SNV
Germline

Chr15:48487131

Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398515

3 SubmittersRCV000663648 RCV000756137 RCV001861731

NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr)

SNV
Germline

Chr15:48487152

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398521

2 SubmittersRCV000663647 RCV002530612

NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)

SNV
Germline

Chr15:48487189

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728205

3 SubmittersRCV000663645 RCV001380035 RCV001374763

NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe)

SNV
Germline

Chr15:48487356

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1060501075

1 SubmittersRCV000663639

NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys)

SNV
Germline

Chr15:48487429

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398582

1 SubmittersRCV000663633

NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)

SNV
Germline

Chr15:48487437

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_140597

4 SubmittersRCV000663632 RCV000802396 RCV002284420

NM_000138.5(FBN1):c.3303T>A (p.Tyr1101Ter)

SNV
Germline

Chr15:48488147

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398624

1 SubmittersRCV000663629

NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)

SNV
Germline

Chr15:48488148

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398625

7 SubmittersRCV000663628 RCV000808781 RCV000770677 RCV003329321

NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val)

SNV
Germline

Chr15:48488151

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_112547596

1 SubmittersRCV000663625

NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)

SNV
Germline

Chr15:48488151

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_112547596

2 SubmittersRCV000663624 RCV001558411

NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)

SNV
Germline

Chr15:48488160

Pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555398627

5 SubmittersRCV000663622 RCV003144465 RCV002530611

NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)

SNV
Germline

Chr15:48488182

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398633

2 SubmittersRCV000663621

NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg)

SNV
Germline

Chr15:48488194

Pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1555398637

2 SubmittersRCV000663619 RCV004702270

NM_000138.5(FBN1):c.3214G>C (p.Asp1072His)

SNV
Germline

Chr15:48488236

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_778867355

1 SubmittersRCV000663615

NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)

SNV
Germline

Chr15:48488241

Likely pathogenic

Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_1555398648

2 SubmittersRCV000663613 RCV003330874

NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)

SNV
Germline

Chr15:48488373

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398659

2 SubmittersRCV000663610 RCV001220774

NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg)

SNV
Germline

Chr15:48488374

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1293095681

2 SubmittersRCV000663609 RCV001067486

NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp)

SNV
Germline

Chr15:48488411

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1060501040

1 SubmittersRCV000663608

NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser)

SNV
Germline

Chr15:48488419

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398667

1 SubmittersRCV000663607

NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)

SNV
Germline

Chr15:48488424

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1555398668

3 SubmittersRCV000663606 RCV001861730

NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile)

SNV
Germline

Chr15:48488427

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_987202268

1 SubmittersRCV000663605

NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)

SNV
Germline

Chr15:48488433

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555398673

6 SubmittersRCV000663603 RCV000686449 RCV001509496

NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter)

SNV
Germline

Chr15:48488444

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398677

2 SubmittersRCV000663602

NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)

SNV
Germline

Chr15:48489911

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398793

2 SubmittersRCV000663595 RCV001861729

NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter)

SNV
Germline

Chr15:48489945

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398803

1 SubmittersRCV000663592

NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr)

SNV
Germline

Chr15:48489991

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_727505110

1 SubmittersRCV000663589

NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe)

SNV
Germline

Chr15:48492466

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398974

1 SubmittersRCV000663585

NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr)

SNV
Germline

Chr15:48492466

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398974

1 SubmittersRCV000663584

NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser)

SNV
Germline

Chr15:48492575

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398994

1 SubmittersRCV000663577

NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly)

SNV
Germline

Chr15:48492577

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555398995

1 SubmittersRCV000663576

NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter)

SNV
Germline

Chr15:48492578

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398996

2 SubmittersRCV000663575 RCV001069172

NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg)

SNV
Germline

Chr15:48494237

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_869025405

1 SubmittersRCV000663572

NM_000138.5(FBN1):c.2678-2A>G

SNV
Germline

Chr15:48494256

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399101

2 SubmittersRCV000663569 RCV003767931

NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)

SNV
Germline

Chr15:48495123

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_193922193

2 SubmittersRCV000663568 RCV002440407

NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)

SNV
Germline

Chr15:48495215

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399162

3 SubmittersRCV000663558 RCV002424568 RCV002530608

NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter)

SNV
Germline

Chr15:48495238

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399164

2 SubmittersRCV000663556 RCV000687719

NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)

SNV
Germline

Chr15:48495243

Likely pathogenic

Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399165

3 SubmittersRCV000663553 RCV003987650

NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr)

SNV
Germline

Chr15:48495519

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_397515774

1 SubmittersRCV000663549

NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)

SNV
Germline

Chr15:48495562

Pathogenic/Likely pathogenic

Marfan syndrome
See cases
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399206

5 SubmittersRCV000663543 RCV002287434 RCV001235910 RCV003228974

NM_000138.5(FBN1):c.2434G>T (p.Glu812Ter)

SNV
Germline

Chr15:48495574

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_201778577

1 SubmittersRCV000663542

NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp)

SNV
Germline

Chr15:48495575

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_193921256

2 SubmittersRCV000663540 RCV001855412

NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)

SNV
Germline

Chr15:48495576

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399210

4 SubmittersRCV000663538 RCV002442388 RCV003767930

NM_000138.5(FBN1):c.2420-1G>T

SNV
Germline

Chr15:48495589

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399214

1 SubmittersRCV000663536

NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)

SNV
Germline

Chr15:48496150

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_193922188

5 SubmittersRCV000663533 RCV001040134 RCV001779039 RCV002458178

NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser)

SNV
Germline

Chr15:48496151

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399270

1 SubmittersRCV000663532

NM_000138.5(FBN1):c.2341T>A (p.Cys781Ser)

SNV
Germline

Chr15:48496178

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_397515766

1 SubmittersRCV000663530

NM_000138.5(FBN1):c.2327G>A (p.Cys776Tyr)

SNV
Germline

Chr15:48496192

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399273

1 SubmittersRCV000663529

NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)

SNV
Germline

Chr15:48497272

Pathogenic

Marfan syndrome

Reviewed By Expert Panel

rs_1555399361

4 SubmittersRCV000663525

NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr)

SNV
Germline

Chr15:48498985

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399477

1 SubmittersRCV000663520

NM_000138.5(FBN1):c.2114-1G>C

SNV
Germline

Chr15:48499039

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399484

1 SubmittersRCV000663517

NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)

SNV
Germline

Chr15:48503846

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399761

3 SubmittersRCV000663515 RCV001384615

NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser)

SNV
Germline

Chr15:48503849

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399763

1 SubmittersRCV000663514

NM_000138.5(FBN1):c.1960+2T>C

SNV
Germline

Chr15:48505023

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399802

1 SubmittersRCV000663508

NM_000138.5(FBN1):c.1960+1G>C

SNV
Germline

Chr15:48505024

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399804

2 SubmittersRCV000663507

NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)

SNV
Germline

Chr15:48505136

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501017

4 SubmittersRCV000663504 RCV000816775 RCV001374798

NM_000138.5(FBN1):c.1838-1G>A

SNV
Germline

Chr15:48505148

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399840

1 SubmittersRCV000663501

NM_000138.5(FBN1):c.1837+2T>C

SNV
Germline

Chr15:48508580

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399940

2 SubmittersRCV000663499

NM_000138.5(FBN1):c.1837+1G>A

SNV
Germline

Chr15:48508581

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_397515762

2 SubmittersRCV000663498 RCV004702269

NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)

SNV
Germline

Chr15:48508588

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399944

3 SubmittersRCV000663497 RCV002530607

NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter)

SNV
Germline

Chr15:48508618

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399953

1 SubmittersRCV000663494

NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)

SNV
Germline

Chr15:48508625

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399954

2 SubmittersRCV000663493

NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr)

SNV
Germline

Chr15:48508626

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399955

1 SubmittersRCV000663492

NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp)

SNV
Germline

Chr15:48508644

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399959

1 SubmittersRCV000663491

NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)

SNV
Germline

Chr15:48508653

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399962

3 SubmittersRCV000663489 RCV001052097 RCV001545731

NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)

SNV
Germline

Chr15:48508659

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399963

2 SubmittersRCV000663488

NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)

SNV
Germline

Chr15:48508665

Likely pathogenic

Marfan syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501041

3 SubmittersRCV000663487 RCV002249393 RCV002397347

NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)

SNV
Germline

Chr15:48508692

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399974

3 SubmittersRCV000663486 RCV000820849 RCV003317325

NM_000138.5(FBN1):c.1715A>T (p.Asp572Val)

SNV
Germline

Chr15:48508704

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399976

1 SubmittersRCV000663485

NM_000138.5(FBN1):c.1715-1G>A

SNV
Germline

Chr15:48508705

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399977

1 SubmittersRCV000663484

NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)

SNV
Germline

Chr15:48510049

Pathogenic

Marfan syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400049

4 SubmittersRCV000663483 RCV002249392 RCV002530606 RCV004822154

NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)

SNV
Germline

Chr15:48510079

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555400052

4 SubmittersRCV000663481 RCV001855411 RCV003144464

NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)

SNV
Germline

Chr15:48510094

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_794728172

2 SubmittersRCV000663478 RCV001215305

NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg)

SNV
Germline

Chr15:48510122

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400062

1 SubmittersRCV000663475

NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe)

SNV
Germline

Chr15:48510136

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400064

1 SubmittersRCV000663474

NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter)

SNV
Germline

Chr15:48513558

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400267

1 SubmittersRCV000663471

NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)

SNV
Germline

Chr15:48513581

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_1555400278

6 SubmittersRCV000663468 RCV000695446 RCV002397346

NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter)

SNV
Germline

Chr15:48513585

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_794728168

1 SubmittersRCV000663467

NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)

SNV
Germline

Chr15:48513600

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400279

3 SubmittersRCV000663466 RCV000769653 RCV003767927

NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)

SNV
Germline

Chr15:48513626

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1156747241

2 SubmittersRCV000663465 RCV002388173

NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)

SNV
Germline

Chr15:48513627

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400288

3 SubmittersRCV000663464 RCV000802237

NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)

SNV
Germline

Chr15:48515387

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555400371

4 SubmittersRCV000663461 RCV003767926

NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe)

SNV
Germline

Chr15:48515392

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400372

1 SubmittersRCV000663460

NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)

SNV
Germline

Chr15:48515392

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400372

4 SubmittersRCV000663459 RCV001058787 RCV001805786 RCV002388172

NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)

SNV
Germline

Chr15:48515434

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728166

4 SubmittersRCV000663455 RCV001224419 RCV002388171 RCV004822153

NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)

SNV
Germline

Chr15:48515465

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
8 conditions
Condition: not provided

Reviewed By Expert Panel

rs_587782943

6 SubmittersRCV000663453 RCV000815714 RCV002307582 RCV002493077 RCV004820084

NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr15:48515495

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555400387

2 SubmittersRCV000663452 RCV003485625

NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr15:48516192

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400406

1 SubmittersRCV000663449

NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr15:48516240

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1439533354

1 SubmittersRCV000663448

NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)

SNV
Germline

Chr15:48516341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_746385384

7 SubmittersRCV000663445 RCV001001204 RCV000687688 RCV001182275 RCV001354497

NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter)

SNV
Germline

Chr15:48516343

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_746201757

1 SubmittersRCV000663444

NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)

SNV
Germline

Chr15:48520708

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400595

3 SubmittersRCV000663442 RCV001387166

NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr)

SNV
Germline

Chr15:48520730

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400603

1 SubmittersRCV000663441

NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg)

SNV
Germline

Chr15:48520731

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555400604

1 SubmittersRCV000663440

NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)

SNV
Germline

Chr15:48520733

Likely pathogenic

Marfan syndrome

Reviewed By Expert Panel

rs_1555400606

3 SubmittersRCV000663439

NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)

SNV
Germline

Chr15:48520776

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Reviewed By Expert Panel

rs_752010116

7 SubmittersRCV000663437 RCV001170324 RCV001855410 RCV002245070

NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)

SNV
Germline

Chr15:48520800

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555400612

2 SubmittersRCV000663435 RCV001382241

NM_000138.5(FBN1):c.989-1G>C

SNV
Germline

Chr15:48520818

Pathogenic

Marfan syndrome

Reviewed By Expert Panel

rs_1555400616

2 SubmittersRCV000664040

NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter)

SNV
Germline

Chr15:48526158

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555401004

1 SubmittersRCV000664038

NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)

SNV
Germline

Chr15:48534166

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

rs_751169871

7 SubmittersRCV000663976 RCV000812490 RCV000773642 RCV001584527 RCV002507148

NM_000138.5(FBN1):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr15:48534170

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_146348130

3 SubmittersRCV000663973 RCV001207062

NM_000138.5(FBN1):c.733C>T (p.Gln245Ter)

SNV
Germline

Chr15:48537614

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555401667

1 SubmittersRCV000663947

NM_000138.5(FBN1):c.670T>C (p.Cys224Arg)

SNV
Germline

Chr15:48537677

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555401676

1 SubmittersRCV000663894

NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)

SNV
Germline

Chr15:48537721

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555401687

2 SubmittersRCV000663858 RCV001052577

NM_000138.5(FBN1):c.538+2T>C

SNV
Germline

Chr15:48596281

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555404799

1 SubmittersRCV000663783

NM_000138.5(FBN1):c.504C>G (p.Cys168Trp)

SNV
Germline

Chr15:48596317

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_200295020

1 SubmittersRCV000663760

NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)

SNV
Germline

Chr15:48596342

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555404810

3 SubmittersRCV000663748 RCV001068055 RCV001798955

NM_000138.5(FBN1):c.433T>G (p.Cys145Gly)

SNV
Germline

Chr15:48600148

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405031

1 SubmittersRCV000663718

NM_000138.5(FBN1):c.408C>A (p.Cys136Ter)

SNV
Germline

Chr15:48600173

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555405039

3 SubmittersRCV000663694 RCV003767932 RCV004702271

NM_000138.5(FBN1):c.406T>C (p.Cys136Arg)

SNV
Germline

Chr15:48600175

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405041

1 SubmittersRCV000663690

NM_000138.5(FBN1):c.406T>A (p.Cys136Ser)

SNV
Germline

Chr15:48600175

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405041

1 SubmittersRCV000663689

NM_000138.5(FBN1):c.305G>C (p.Cys102Ser)

SNV
Germline

Chr15:48610769

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_794728292

1 SubmittersRCV000663598

NM_000138.5(FBN1):c.265T>C (p.Cys89Arg)

SNV
Germline

Chr15:48610809

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405533

1 SubmittersRCV000663565

NM_000138.5(FBN1):c.255C>A (p.Cys85Ter)

SNV
Germline

Chr15:48610819

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405536

1 SubmittersRCV000663555

NM_000138.5(FBN1):c.248-3C>G

SNV
Germline

Chr15:48610829

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405537

1 SubmittersRCV000663548

NM_000138.5(FBN1):c.247+1G>T

SNV
Germline

Chr15:48613009

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_25404

2 SubmittersRCV000663545 RCV003163052

NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)

SNV
Germline

Chr15:48613019

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_111764111

2 SubmittersRCV000663534

NM_000138.5(FBN1):c.211T>C (p.Trp71Arg)

SNV
Germline

Chr15:48613046

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555405658

2 SubmittersRCV000663519 RCV003767928

NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)

SNV
Germline

Chr15:48613046

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555405658

2 SubmittersRCV000663518 RCV001220848

NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys)

SNV
Germline

Chr15:48613060

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_774371494

1 SubmittersRCV000663510

NM_000138.5(FBN1):c.176G>T (p.Cys59Phe)

SNV
Germline

Chr15:48613081

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555405673

1 SubmittersRCV000663490

NM_000138.5(FBN1):c.164+1G>T

SNV
Germline

Chr15:48644605

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_794728213

1 SubmittersRCV000663477

NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)

SNV
Germline

Chr15:48644738

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555407429

3 SubmittersRCV000663627 RCV001855413

NM_000138.5(FBN1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:48644768

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_886041536

3 SubmittersRCV000663593 RCV004788083

NM_000138.5(FBN1):c.1589-5T>C

SNV
Germline

Chr15:48510174

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1371798538

5 SubmittersRCV000663434 RCV001524955 RCV003144463 RCV003767925

NM_000138.5(FBN1):c.1956T>G (p.Cys652Trp)

SNV
Unknown

Chr15:48505029

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1566913974

1 SubmittersRCV000678260

NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)

SNV
Germline

Chr15:48537704

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_111687884

6 SubmittersRCV000680523 RCV001187334 RCV001868302 RCV003313131

NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg)

SNV
Germline

Chr15:48412739

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566889188

1 SubmittersRCV000706805

NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg)

SNV
Germline

Chr15:48415600

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

rs_1566889870

2 SubmittersRCV000699162 RCV004796285

NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val)

SNV
Germline

Chr15:48421593

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566891654

2 SubmittersRCV000694165 RCV002388253

NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg)

SNV
Germline

Chr15:48425790

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566892883

1 SubmittersRCV000699041

NM_000138.5(FBN1):c.7204+1G>A

SNV
Germline

Chr15:48427566

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394557

3 SubmittersRCV000688065 RCV002250681

NM_000138.5(FBN1):c.6163+1G>A

SNV
Germline

Chr15:48441720

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566897374

2 SubmittersRCV000685123 RCV004004228

NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp)

SNV
Germline

Chr15:48441833

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566897420

2 SubmittersRCV000698967 RCV002246006

NM_000138.5(FBN1):c.5296+5G>C

SNV
Germline

Chr15:48460241

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566902515

1 SubmittersRCV000693204

NM_000138.5(FBN1):c.4942+1G>A

SNV
Germline

Chr15:48465567

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566903907

1 SubmittersRCV000691701

NM_000138.5(FBN1):c.3766A>C (p.Asn1256His)

SNV
Germline

Chr15:48483890

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772890884

2 SubmittersRCV000693972 RCV004777835

NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter)

SNV
Germline

Chr15:48485462

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_765842423

1 SubmittersRCV000703410

NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly)

SNV
Germline

Chr15:48487428

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566909547

1 SubmittersRCV000695510

NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe)

SNV
Germline

Chr15:48496213

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728190

1 SubmittersRCV000692023

NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)

SNV
Germline

Chr15:48505129

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_377686210

7 SubmittersRCV000699001 RCV001182973 RCV002286782 RCV002485711 RCV003999686

NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp)

SNV
Germline

Chr15:48510048

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_193922183

1 SubmittersRCV000697350

NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)

SNV
Germline

Chr15:48513599

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501036

2 SubmittersRCV000705946 RCV001374801

NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr)

SNV
Germline

Chr15:48596291

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_113695103

2 SubmittersRCV000695886 RCV001374822

NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)

SNV
Germline

Chr15:48420743

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1566891436

2 SubmittersRCV000692304 RCV002406569

NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)

SNV
Germline

Chr15:48421594

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566891655

5 SubmittersRCV000687097 RCV001193503 RCV001551561 RCV002388203 RCV004004260

NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg)

SNV
Germline

Chr15:48425480

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566892757

1 SubmittersRCV000696700

NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)

SNV
Germline

Chr15:48425859

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions

Criteria Provided
Conflicting Classifications

rs_530059069

5 SubmittersRCV000694961 RCV001293490 RCV000774499 RCV003999631 RCV002507209

NM_000138.5(FBN1):c.6740-3C>G

SNV
Germline

Chr15:48430805

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566894334

1 SubmittersRCV000703338

NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)

SNV
Germline

Chr15:48445408

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome 2, dominant
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_1346043320

7 SubmittersRCV000691671 RCV001333240 RCV002233229 RCV004723080 RCV003889967 RCV002352138

NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter)

SNV
Germline

Chr15:48465599

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566903921

1 SubmittersRCV000705610

NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg)

SNV
Germline

Chr15:48470745

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397421

2 SubmittersRCV000699071 RCV001374757

NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)

SNV
Germline

Chr15:48488434

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2229324

4 SubmittersRCV000690536 RCV001525907 RCV003999548 RCV003144507

NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter)

SNV
Germline

Chr15:48516208

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566916969

1 SubmittersRCV000692551

NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)

SNV
Germline

Chr15:48537676

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566922396

3 SubmittersRCV000691759 RCV004812356 RCV002468599

NM_000138.5(FBN1):c.7571-1G>A

SNV
Germline

Chr15:48421687

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566891706

2 SubmittersRCV000687633 RCV004017716

NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter)

SNV
Germline

Chr15:48421973

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566891808

2 SubmittersRCV000696260 RCV002388267

NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)

SNV
Germline

Chr15:48425831

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

rs_1566892915

2 SubmittersRCV000686031 RCV004702317

NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)

SNV
Germline

Chr15:48430759

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_771716423

3 SubmittersRCV000691301 RCV002360740

NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter)

SNV
Germline

Chr15:48430785

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1245476075

2 SubmittersRCV000685789 RCV004822161

NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)

SNV
Germline

Chr15:48430791

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_112836174

3 SubmittersRCV000694587 RCV001374836 RCV003485631

NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu)

SNV
Germline

Chr15:48432907

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566894783

2 SubmittersRCV000707547 RCV003318503

NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser)

SNV
Germline

Chr15:48434642

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566895263

1 SubmittersRCV000686180

NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)

SNV
Germline

Chr15:48445468

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728241

1 SubmittersRCV000687608

NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser)

SNV
Germline

Chr15:48445492

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_794728240

1 SubmittersRCV000685319

NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe)

SNV
Germline

Chr15:48448773

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566899500

1 SubmittersRCV000699270

NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter)

SNV
Germline

Chr15:48452571

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566900473

1 SubmittersRCV000703433

NM_000138.5(FBN1):c.4088-5A>G

SNV
Germline

Chr15:48474382

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_534913868

3 SubmittersRCV000692760 RCV003528218 RCV004802370

NM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile)

SNV
Germline

Chr15:48487146

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555398520

1 SubmittersRCV000691583

NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)

SNV
Germline

Chr15:48488178

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566909798

1 SubmittersRCV000698130

NM_000138.5(FBN1):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr15:48489920

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_564713154

1 SubmittersRCV000705195

NM_000138.5(FBN1):c.2113+1G>T

SNV
Germline

Chr15:48503786

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566913670

2 SubmittersRCV000704604 RCV005001105

NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr)

SNV
Germline

Chr15:48505117

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566914030

1 SubmittersRCV000693330

NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)

SNV
Germline

Chr15:48515482

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
MASS syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_749133312

5 SubmittersRCV000691770 RCV001805809 RCV003330903 RCV004802366 RCV000781377

NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter)

SNV
Germline

Chr15:48520668

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566917979

1 SubmittersRCV000707340

NM_000138.5(FBN1):c.247+3A>C

SNV
Germline

Chr15:48613007

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_201854371

1 SubmittersRCV000699846

NM_000138.5(FBN1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr15:48644769

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_730880097

1 SubmittersRCV000700179

NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)

SNV
Germline

Chr15:48411220

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Condition: not provided
Weill-Marchesani syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_112310699

7 SubmittersRCV000692428 RCV001115230 RCV001115231 RCV001118373 RCV001118374 RCV001311036 RCV001118376 RCV001118375

NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter)

SNV
Germline

Chr15:48415765

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566890005

2 SubmittersRCV000703071 RCV002406637

NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)

SNV
Germline

Chr15:48425423

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566892727

2 SubmittersRCV000686242 RCV001002653

NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)

SNV
Germline

Chr15:48425424

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555394402

1 SubmittersRCV000690558

NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg)

SNV
Germline

Chr15:48428460

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555394644

1 SubmittersRCV000688195

NM_000138.5(FBN1):c.5918-1G>C

SNV
Germline

Chr15:48444661

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566898144

1 SubmittersRCV000687707

NM_000138.5(FBN1):c.5788+6T>G

SNV
Germline

Chr15:48446700

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566898741

1 SubmittersRCV000700218

NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr)

SNV
Germline

Chr15:48474293

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1352478541

2 SubmittersRCV000684935 RCV003226371

NM_000138.5(FBN1):c.2113+1G>C

SNV
Germline

Chr15:48503786

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566913670

3 SubmittersRCV000688462 RCV002286778 RCV000984050

NM_000138.5(FBN1):c.2113+1G>A

SNV
Germline

Chr15:48503786

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566913670

2 SubmittersRCV000707068 RCV002422614

NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)

SNV
Germline

Chr15:48503813

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566913685

1 SubmittersRCV000705083

NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)

SNV
Germline

Chr15:48505085

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Aortic aneurysm
Lens luxation
Mitral valve prolapse
Arachnodactyly
Pes planus

Criteria Provided
Conflicting Classifications

rs_1566914005

2 SubmittersRCV000689140 RCV001800851

NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)

SNV
Germline

Chr15:48537721

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555401687

2 SubmittersRCV000702875 RCV002282339

NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr)

SNV
Germline

Chr15:48600195

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566935517

1 SubmittersRCV000696593

NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr)

SNV
Germline

Chr15:48421608

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394196

2 SubmittersRCV000722052 RCV002535020

NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)

SNV
Germline

Chr15:48411242

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_112945086

5 SubmittersRCV000728036 RCV001182521 RCV001400253 RCV003999880

NM_000138.5(FBN1):c.1793G>C (p.Cys598Ser)

SNV
Unknown

Chr15:48508626

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399955

1 SubmittersRCV000754777

NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)

SNV
Germline

Chr15:48497352

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acute aortic dissection
Congenital aneurysm of ascending aorta
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1566912242

4 SubmittersRCV002533776 RCV000755200 RCV001706705

NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)

SNV
Germline

Chr15:48420719

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566891404

4 SubmittersRCV000756135 RCV001855870 RCV002246008

NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)

SNV
Germline

Chr15:48505117

Pathogenic/Likely pathogenic

Condition: not provided
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566914030

3 SubmittersRCV000757264 RCV000780235 RCV002406679

NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)

SNV
Germline

Chr15:48434641

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566895262

1 SubmittersRCV000761275

NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)

SNV
Germline

Chr15:48441829

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_377149130

6 SubmittersRCV000761911 RCV001178617 RCV002533889 RCV003999912

NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr)

SNV
Unknown

Chr15:48421563

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566891645

1 SubmittersRCV000766255

NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)

SNV
Germline

Chr15:48437071

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566896114

2 SubmittersRCV000766252

NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)

SNV
Unknown

Chr15:48474579

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566906537

1 SubmittersRCV000766247

NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)

SNV
Unknown

Chr15:48485487

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566908956

1 SubmittersRCV000766245

NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)

SNV
Unknown

Chr15:48488118

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566909766

1 SubmittersRCV000766244

NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)

SNV
Unknown

Chr15:48495243

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399165

1 SubmittersRCV000766243

NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)

SNV
Unknown

Chr15:48610770

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566937712

1 SubmittersRCV000766238

NM_000138.5(FBN1):c.5066-1G>A

SNV
Germline

Chr15:48463241

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_397515819

2 SubmittersRCV000766249 RCV000792068

NM_000138.5(FBN1):c.1589-14A>G

SNV
Unknown

Chr15:48510183

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566915335

1 SubmittersRCV000766242

NM_000138.5(FBN1):c.5546-1G>A

SNV
Germline

Chr15:48448894

Pathogenic/Likely pathogenic

8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566899590

2 SubmittersRCV000768214 RCV003768307

NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)

SNV
Germline

Chr15:48421603

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566891668

2 SubmittersRCV000770655 RCV000792237

NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)

SNV
Germline

Chr15:48421609

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1566891675

3 SubmittersRCV000770656 RCV001855729 RCV004776295

NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)

SNV
Germline

Chr15:48428455

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_363830

6 SubmittersRCV000769624 RCV002487569 RCV002533951 RCV004535896 RCV003999928

NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)

SNV
Germline

Chr15:48470744

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397419

3 SubmittersRCV000770667 RCV001212879 RCV003338787

NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)

SNV
Germline

Chr15:48474534

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_1566906506

4 SubmittersRCV000770672 RCV002246009 RCV003768317

NM_000138.5(FBN1):c.5546-4A>C

SNV
Germline

Chr15:48448897

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_919423974

5 SubmittersRCV003144582 RCV000769635 RCV001504531 RCV003999929

NM_000138.5(FBN1):c.5423-2A>G

SNV
Germline

Chr15:48452686

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566900540

3 SubmittersRCV000769640 RCV004782539 RCV004783850

NM_000138.5(FBN1):c.3902G>C (p.Gly1301Ala)

SNV
Germline

Chr15:48481717

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1566908083

2 SubmittersRCV000774241 RCV004554821

NM_000138.5(FBN1):c.2115G>A (p.Ala705=)

SNV
Germline

Chr15:48499037

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_932764622

3 SubmittersRCV000772602 RCV001856022 RCV003999977

NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)

SNV
Germline

Chr15:48644762

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_149929989

4 SubmittersRCV000773470 RCV001338759 RCV001772028 RCV004000013

NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)

SNV
Germline

Chr15:48425435

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566892735

3 SubmittersRCV000780257 RCV002386363 RCV002535672

NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg)

SNV
Germline

Chr15:48427588

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1448650040

2 SubmittersRCV000781358 RCV003768457

NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)

SNV
Germline

Chr15:48428453

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Acromicric dysplasia
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

rs_773785908

10 SubmittersRCV000780259 RCV000851302 RCV001062885 RCV001117110 RCV001117111 RCV001117112 RCV001118750 RCV001118751 RCV002272352 RCV002507349

NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)

SNV
Germline

Chr15:48430676

Likely pathogenic

not specified
Marfan syndrome

Reviewed By Expert Panel

rs_1566894230

3 SubmittersRCV000780254 RCV001839457

NM_000138.5(FBN1):c.6827G>A (p.Cys2276Tyr)

SNV
Germline

Chr15:48430715

Pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_1566894262

1 SubmittersRCV000780243

NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)

SNV
Germline

Chr15:48432873

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_780960909

5 SubmittersRCV000781362 RCV001856195 RCV004001530 RCV004619410

NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)

SNV
Germline

Chr15:48437047

Pathogenic

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555395206

3 SubmittersRCV000781363 RCV001070500 RCV004776296

NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)

SNV
Germline

Chr15:48448881

Pathogenic

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_1555395989

3 SubmittersRCV000780261 RCV001051840 RCV003889978

NM_000138.5(FBN1):c.4224C>A (p.Cys1408Ter)

SNV
Germline

Chr15:48472663

Pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_1566905978

1 SubmittersRCV000781380

NM_000138.5(FBN1):c.6871+12C>A

SNV
Germline

Chr15:48430659

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_770526904

2 SubmittersRCV000780255 RCV002068537

NM_000138.5(FBN1):c.7570+5G>A

SNV
Germline

Chr15:48421947

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566891797

1 SubmittersRCV000782352

NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)

SNV
Germline

Chr15:48465573

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_397515814

1 SubmittersRCV000786771

NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)

SNV
Germline

Chr15:48420687

Likely pathogenic

Condition: not provided
Myopathy
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597512576

3 SubmittersRCV000788528 RCV002463739 RCV003448346

NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)

SNV
Germline

Chr15:48432988

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597522584

3 SubmittersRCV000788919 RCV003330951 RCV003768474

NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)

SNV
Germline

Chr15:48434702

Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597523873

2 SubmittersRCV000788855 RCV000989313

NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)

SNV
Germline

Chr15:48515476

Likely pathogenic

Condition: not provided
not specified
Marfan syndrome

Reviewed By Expert Panel

rs_1597581001

4 SubmittersRCV000788531 RCV001375613 RCV003396368

NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)

SNV
Germline

Chr15:48427567

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1057524757

1 SubmittersRCV000790617

NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)

SNV
Unknown

Chr15:48411094

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597506641

1 SubmittersRCV000790618

NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)

SNV
Germline

Chr15:48430714

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597520625

2 SubmittersRCV000791239

NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)

SNV
Germline

Chr15:48513579

Pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597579923

2 SubmittersRCV000791240

NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)

SNV
Germline

Chr15:48444612

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Reviewed By Expert Panel

rs_1597531796

4 SubmittersRCV000791241 RCV002352305

NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp)

SNV
Unknown

Chr15:48497342

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1008275504

1 SubmittersRCV000791244

NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg)

SNV
Germline

Chr15:48492554

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597567249

1 SubmittersRCV000791322

NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)

SNV
Germline

Chr15:48495570

Pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597569265

2 SubmittersRCV000791338

NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser)

SNV
Unknown

Chr15:48492466

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398974

1 SubmittersRCV000791343

NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)

SNV
Germline

Chr15:48411009

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1597506544

2 SubmittersRCV000805985 RCV001171236

NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)

SNV
Germline

Chr15:48411015

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1060501028

1 SubmittersRCV000820363

NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)

SNV
Germline

Chr15:48411250

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Acromicric dysplasia
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_781352764

3 SubmittersRCV000817044 RCV001118378 RCV001119912 RCV001118377 RCV001119911 RCV001118379 RCV001118380

NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter)

SNV
Germline

Chr15:48412650

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597507712

1 SubmittersRCV000802675

NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter)

SNV
Germline

Chr15:48412703

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597507783

1 SubmittersRCV000823926

NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe)

SNV
Germline

Chr15:48415572

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_1555393831

2 SubmittersRCV000809881 RCV004538110

NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr)

SNV
Germline

Chr15:48415599

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597509631

1 SubmittersRCV000818844

NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr)

SNV
Germline

Chr15:48415650

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597509701

1 SubmittersRCV000809042

NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser)

SNV
Germline

Chr15:48415651

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393863

1 SubmittersRCV000816759

NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter)

SNV
Germline

Chr15:48420705

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597512600

2 SubmittersRCV000814089 RCV004619426

NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)

SNV
Germline

Chr15:48420741

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_111413134

3 SubmittersRCV000817540 RCV001759592

NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)

SNV
Germline

Chr15:48425410

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_193922233

3 SubmittersRCV000810020 RCV001190078 RCV004001719

NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)

SNV
Germline

Chr15:48425446

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555394406

1 SubmittersRCV000822852

NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)

SNV
Germline

Chr15:48425744

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597516347

3 SubmittersRCV000800508 RCV001798980 RCV002250698

NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys)

SNV
Germline

Chr15:48428427

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1318405523

2 SubmittersRCV000819664 RCV003233863

NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)

SNV
Germline

Chr15:48430676

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566894230

2 SubmittersRCV002067396 RCV000809126

NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)

SNV
Germline

Chr15:48430794

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1597520789

2 SubmittersRCV000820705 RCV000995334

NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)

SNV
Germline

Chr15:48432982

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
not specified
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_146063839

9 SubmittersRCV000797740 RCV001170528 RCV001553123 RCV001194209 RCV002487671 RCV004001612

NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val)

SNV
Germline

Chr15:48434626

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597523768

1 SubmittersRCV000801515

NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr)

SNV
Germline

Chr15:48437005

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_112464743

1 SubmittersRCV000820349

NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp)

SNV
Germline

Chr15:48437064

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Multiple Submitters
No Conflicts

rs_61730051

2 SubmittersRCV000822537 RCV001374839

NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys)

SNV
Germline

Chr15:48446766

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597533619

1 SubmittersRCV000794549

NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)

SNV
Germline

Chr15:48446815

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597533706

1 SubmittersRCV000816163

NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr)

SNV
Germline

Chr15:48448860

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597535300

1 SubmittersRCV000799367

NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter)

SNV
Germline

Chr15:48452614

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555396201

2 SubmittersRCV000801999 RCV002246010

NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)

SNV
Germline

Chr15:48452622

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Marfan syndrome
MASS syndrome
Ectopia lentis 1, isolated, autosomal dominant

Criteria Provided
Single Submitter

rs_1597537835

2 SubmittersRCV000804245 RCV001535643

NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr)

SNV
Germline

Chr15:48452636

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597537858

1 SubmittersRCV000817212

NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg)

SNV
Germline

Chr15:48452673

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597537935

2 SubmittersRCV000812268 RCV003323729

NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg)

SNV
Germline

Chr15:48456682

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555396424

2 SubmittersRCV000802401 RCV001784422

NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe)

SNV
Germline

Chr15:48463949

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_140627

2 SubmittersRCV000793062 RCV004818033

NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter)

SNV
Germline

Chr15:48465617

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597547030

1 SubmittersRCV000800557

NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg)

SNV
Germline

Chr15:48481661

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597558920

2 SubmittersRCV000792184 RCV004702420

NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)

SNV
Germline

Chr15:48485375

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_536369260

5 SubmittersRCV000797141 RCV001186477 RCV003330956 RCV003392601

NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)

SNV
Germline

Chr15:48485412

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_775532488

5 SubmittersRCV000815665 RCV001191877 RCV004546565 RCV004001782

NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly)

SNV
Germline

Chr15:48487191

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597562926

1 SubmittersRCV000802337

NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser)

SNV
Germline

Chr15:48488373

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398659

1 SubmittersRCV000823584

NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp)

SNV
Germline

Chr15:48488403

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728202

1 SubmittersRCV000800460

NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter)

SNV
Germline

Chr15:48489881

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597565298

1 SubmittersRCV000812486

NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg)

SNV
Germline

Chr15:48492575

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555398994

1 SubmittersRCV000807768

NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter)

SNV
Germline

Chr15:48494213

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597568290

1 SubmittersRCV000805378

NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter)

SNV
Germline

Chr15:48495151

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Congenital scoliosis

Criteria Provided
Single Submitter

rs_1597568822

2 SubmittersRCV000810133 RCV000859997

NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser)

SNV
Germline

Chr15:48495177

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597568880

1 SubmittersRCV000796171

NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser)

SNV
Germline

Chr15:48495513

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_397515775

1 SubmittersRCV000801752

NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr)

SNV
Germline

Chr15:48496105

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597569553

1 SubmittersRCV000812544

NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr)

SNV
Germline

Chr15:48503787

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597574156

1 SubmittersRCV000796267

NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser)

SNV
Germline

Chr15:48503847

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597574236

1 SubmittersRCV000801115

NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser)

SNV
Germline

Chr15:48513627

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555400288

1 SubmittersRCV000808687

NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)

SNV
Germline

Chr15:48516299

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_779930519

4 SubmittersRCV000814307 RCV001191447 RCV004803258

NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)

SNV
Germline

Chr15:48516335

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_534127494

3 SubmittersRCV001193505 RCV000810532 RCV004001725

NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)

SNV
Germline

Chr15:48520708

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400595

2 SubmittersRCV000802144 RCV004528301

NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter)

SNV
Germline

Chr15:48520771

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597584082

1 SubmittersRCV000815759

NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)

SNV
Germline

Chr15:48613054

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597633163

2 SubmittersRCV000804019 RCV001258095

NM_000138.5(FBN1):c.5918-1G>A

SNV
Germline

Chr15:48444661

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566898144

1 SubmittersRCV000797856

NM_000138.5(FBN1):c.165-2A>C

SNV
Germline

Chr15:48613094

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_754351718

1 SubmittersRCV000795843

NM_000138.5(FBN1):c.6617-2A>C

SNV
Germline

Chr15:48432990

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597522588

1 SubmittersRCV000792125

NM_000138.5(FBN1):c.6872-961A>G

SNV
Germline

Chr15:48429432

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597519658

2 SubmittersRCV000797185 RCV002470985

NM_000138.5(FBN1):c.6871+1G>A

SNV
Germline

Chr15:48430670

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555394753

1 SubmittersRCV000809123

NM_000138.5(FBN1):c.5671+1G>T

SNV
Germline

Chr15:48448767

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_112104270

1 SubmittersRCV000802742

NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter)

SNV
Unknown

Chr15:48537804

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597593852

1 SubmittersRCV000824970

NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)

SNV
Germline

Chr15:48487362

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_397515791

1 SubmittersRCV000825587

NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)

SNV
Germline

Chr15:48437017

Conflicting classifications of pathogenicity

Congenital scoliosis
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1597525958

3 SubmittersRCV000859994 RCV001069529 RCV003150356

NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter)

SNV
Germline

Chr15:48415636

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393859

1 SubmittersRCV000984078

NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter)

SNV
Germline

Chr15:48427672

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_368978109

1 SubmittersRCV000984076

NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)

SNV
Germline

Chr15:48428458

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1480832655

1 SubmittersRCV000984075

NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter)

SNV
Germline

Chr15:48432971

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597522553

3 SubmittersRCV001071781 RCV000984070

NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)

SNV
Germline

Chr15:48441766

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597529748

1 SubmittersRCV000984066

NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)

SNV
Germline

Chr15:48446816

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597533707

2 SubmittersRCV000984065 RCV002538345

NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)

SNV
Germline

Chr15:48452609

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597537815

2 SubmittersRCV000984064 RCV003768612

NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)

SNV
Germline

Chr15:48456643

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555396419

1 SubmittersRCV000984063

NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)

SNV
Germline

Chr15:48488480

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597564359

2 SubmittersRCV000984058

NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter)

SNV
Germline

Chr15:48490047

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_772108557

3 SubmittersRCV000984056 RCV003768611

NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)

SNV
Germline

Chr15:48495162

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_794728194

2 SubmittersRCV000984055 RCV004697010

NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter)

SNV
Germline

Chr15:48495239

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597568968

1 SubmittersRCV000984054

NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)

SNV
Germline

Chr15:48503847

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597574236

1 SubmittersRCV000984049

NM_000138.5(FBN1):c.1888A>C (p.Asn630His)

SNV
Germline

Chr15:48505097

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555399821

1 SubmittersRCV000984047

NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)

SNV
Germline

Chr15:48510124

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_193922179

1 SubmittersRCV000984043

NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)

SNV
Germline

Chr15:48515477

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597581005

1 SubmittersRCV000984042

NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)

SNV
Germline

Chr15:48537713

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597593736

1 SubmittersRCV000984040

NM_000138.5(FBN1):c.376G>T (p.Gly126Ter)

SNV
Germline

Chr15:48600205

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597625734

1 SubmittersRCV000984038

NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)

SNV
Germline

Chr15:48610776

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597631662

2 SubmittersRCV000984037 RCV001858453

NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)

SNV
Germline

Chr15:48613055

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_113604459

1 SubmittersRCV000984036

NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)

SNV
Germline

Chr15:48613068

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597633183

2 SubmittersRCV000984035

NM_000138.5(FBN1):c.6872-1G>T

SNV
Germline

Chr15:48428472

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597518951

3 SubmittersRCV000984074 RCV002536159

NM_000138.5(FBN1):c.6740-1G>T

SNV
Germline

Chr15:48430803

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555394781

1 SubmittersRCV000984072

NM_000138.5(FBN1):c.6380-1G>T

SNV
Germline

Chr15:48437078

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597526073

1 SubmittersRCV000984068

NM_000138.5(FBN1):c.2539+2T>G

SNV
Germline

Chr15:48495467

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1597569159

1 SubmittersRCV000984053

NM_000138.5(FBN1):c.2419+2T>G

SNV
Germline

Chr15:48496098

Pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1597569536

2 SubmittersRCV000984052 RCV004721644

NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser)

SNV
Germline

Chr15:48488166

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597563934

1 SubmittersRCV000845244

NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter)

SNV
Unknown

Chr15:48463119

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597545199

1 SubmittersRCV000845258

NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter)

SNV
Unknown

Chr15:48487129

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1364210063

1 SubmittersRCV000845262

NM_000138.5(FBN1):c.4219G>T (p.Glu1407Ter)

SNV
Unknown

Chr15:48472668

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597552583

1 SubmittersRCV000845263

NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr)

SNV
Unknown

Chr15:48456681

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597540854

1 SubmittersRCV000845289

NM_000138.5(FBN1):c.859G>T (p.Glu287Ter)

SNV
Germline

Chr15:48534083

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597591602

1 SubmittersRCV000845290

NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp)

SNV
Germline

Chr15:48496104

Pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597569551

2 SubmittersRCV000845291 RCV001233298

NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)

SNV
Germline

Chr15:48448773

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566899500

2 SubmittersRCV000845336 RCV001247046

NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)

SNV
Germline

Chr15:48474273

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597553721

1 SubmittersRCV000845335

NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser)

SNV
Unknown

Chr15:48448812

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_112728248

1 SubmittersRCV000850193

NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe)

SNV
Germline

Chr15:48452636

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597537858

1 SubmittersRCV000850235

NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)

SNV
Germline

Chr15:48427603

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_397515847

2 SubmittersRCV000851391 RCV003768621

NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)

SNV
Unknown

Chr15:48427684

Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597517935

2 SubmittersRCV000851392

NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)

SNV
Unknown

Chr15:48456730

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597540907

1 SubmittersRCV000851489

NM_000138.5(FBN1):c.5540G>C (p.Cys1847Ser)

SNV
Germline

Chr15:48452567

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_1555396185

1 SubmittersRCV000855532

NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)

SNV
Germline

Chr15:48437901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_974604498

6 SubmittersRCV000868568 RCV001190990 RCV002064587 RCV002298795 RCV004003023

NM_000138.5(FBN1):c.162A>G (p.Lys54=)

SNV
Germline

Chr15:48644608

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_777116853

4 SubmittersRCV000868516 RCV001175888 RCV004003021

NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)

SNV
Germline

Chr15:48488120

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_374584763

5 SubmittersRCV000874494 RCV001182987 RCV004726714 RCV004803292

NM_000138.5(FBN1):c.4337-5C>G

SNV
Germline

Chr15:48470761

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_370959127

4 SubmittersRCV000871660 RCV001183004 RCV004003074

NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)

SNV
Germline

Chr15:48441774

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_556131403

3 SubmittersRCV000898550 RCV001176918 RCV001759665

NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)

SNV
Germline

Chr15:48437386

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1478813051

5 SubmittersRCV001178421 RCV001334257 RCV002065998

NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)

SNV
Germline

Chr15:48427757

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

rs_1555394582

2 SubmittersRCV000932063 RCV001001857

NM_000138.5(FBN1):c.248-4A>G

SNV
Germline

Chr15:48610830

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1597631751

3 SubmittersRCV001398876 RCV002427346 RCV004003301

NM_000138.5(FBN1):c.3082+9T>C

SNV
Germline

Chr15:48489842

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_746303949

2 SubmittersRCV001425161 RCV002307646

NM_000138.5(FBN1):c.7820-1G>C

SNV
Unknown

Chr15:48415768

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597509836

1 SubmittersRCV000989311

NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)

SNV
Unknown

Chr15:48441805

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1566897404

1 SubmittersRCV000989315

NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter)

SNV
Unknown

Chr15:48463181

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597545257

1 SubmittersRCV000989319

NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)

SNV
Unknown

Chr15:48463223

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597545345

1 SubmittersRCV000989320

NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)

SNV
Unknown

Chr15:48463976

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555396853

1 SubmittersRCV000989321

NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)

SNV
Unknown

Chr15:48467998

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597548672

1 SubmittersRCV000989322

NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)

SNV
Unknown

Chr15:48474567

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_397515799

1 SubmittersRCV000989323

NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)

SNV
Germline

Chr15:48474567

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_397515799

2 SubmittersRCV000989324 RCV002549725

NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)

SNV
Germline

Chr15:48487119

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597562812

2 SubmittersRCV000989327 RCV002454234

NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)

SNV
Germline

Chr15:48488233

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_137854478

3 SubmittersRCV000989329 RCV001220002 RCV001269892

NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg)

SNV
Unknown

Chr15:48508660

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399968

1 SubmittersRCV000989332

NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)

SNV
Germline

Chr15:48510079

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400052

3 SubmittersRCV001053366 RCV000989333

NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)

SNV
Germline

Chr15:48520676

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Achondroplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597583989

3 SubmittersRCV000989335 RCV001858706 RCV001805957

NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)

SNV
Germline

Chr15:48596325

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_363852

3 SubmittersRCV000989337 RCV003769304 RCV004030115

NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)

SNV
Germline

Chr15:48463148

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597545230

2 SubmittersRCV000995338 RCV002549910

NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)

SNV
Germline

Chr15:48596327

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1060501079

3 SubmittersRCV003528256 RCV001213214 RCV004004432

NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser)

SNV
Germline

Chr15:48441771

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_363804

1 SubmittersRCV000999468

NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr)

SNV
Germline

Chr15:48441813

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597529826

2 SubmittersRCV001386300 RCV001002481

NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)

SNV
Germline

Chr15:48445469

Pathogenic/Likely pathogenic

not specified
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395762

3 SubmittersRCV001001254 RCV002236066 RCV003769384

NM_000138.5(FBN1):c.4816+2T>C

SNV
Germline

Chr15:48465788

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597547226

4 SubmittersRCV001071745 RCV002225780 RCV001002000 RCV004004469

NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr)

SNV
Germline

Chr15:48596318

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555404803

2 SubmittersRCV001061712 RCV001002614

NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)

SNV
Germline

Chr15:48495173

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728193

3 SubmittersRCV001028000 RCV001799026

NM_000138.5(FBN1):c.5917+1G>T

SNV
Germline

Chr15:48445375

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_363808

3 SubmittersRCV001028009 RCV001862419

NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg)

SNV
Germline

Chr15:48415573

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555393833

1 SubmittersRCV001063379

NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser)

SNV
Germline

Chr15:48415722

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555393880

2 SubmittersRCV001047651 RCV001811628

NM_000138.5(FBN1):c.7851C>A (p.Cys2617Ter)

SNV
Germline

Chr15:48415736

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_147019323

1 SubmittersRCV001054347

NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe)

SNV
Germline

Chr15:48421602

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_113334360

1 SubmittersRCV001046098

NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg)

SNV
Germline

Chr15:48421621

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm

Criteria Provided
Conflicting Classifications

rs_2042942573

2 SubmittersRCV001065599 RCV001374809

NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter)

SNV
Germline

Chr15:48425820

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2042974889

2 SubmittersRCV001053736 RCV004721727

NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg)

SNV
Germline

Chr15:48425853

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2042976167

1 SubmittersRCV001044654

NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr)

SNV
Germline

Chr15:48428438

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2042998789

1 SubmittersRCV001062250

NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)

SNV
Germline

Chr15:48430707

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759674700

3 SubmittersRCV001046135 RCV001759767

NM_000138.5(FBN1):c.6735C>A (p.Cys2245Ter)

SNV
Germline

Chr15:48432870

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2043034543

1 SubmittersRCV001057970

NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr)

SNV
Germline

Chr15:48437785

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1131691803

1 SubmittersRCV001061138

NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter)

SNV
Germline

Chr15:48437901

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_974604498

2 SubmittersRCV001039225 RCV002246012

NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)

SNV
Germline

Chr15:48445382

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395745

3 SubmittersRCV001057699 RCV002246015 RCV002355052

NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)

SNV
Germline

Chr15:48445451

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions

Criteria Provided
Conflicting Classifications

rs_766850261

4 SubmittersRCV001035411 RCV001183755 RCV004004693 RCV002497355

NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly)

SNV
Germline

Chr15:48445454

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1131691938

1 SubmittersRCV001059489

NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)

SNV
Germline

Chr15:48456750

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043241537

2 SubmittersRCV001044908 RCV001193547

NM_000138.5(FBN1):c.5157C>A (p.Cys1719Ter)

SNV
Germline

Chr15:48463149

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043292643

1 SubmittersRCV001064565

NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp)

SNV
Germline

Chr15:48467996

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome 2, dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043337073

2 SubmittersRCV001062847 RCV003307900

NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr)

SNV
Germline

Chr15:48467997

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691871

2 SubmittersRCV001051501 RCV004528358

NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter)

SNV
Germline

Chr15:48468025

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043337443

1 SubmittersRCV001062838

NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)

SNV
Germline

Chr15:48474603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1416288007

5 SubmittersRCV001053535 RCV001797151 RCV003528263 RCV004000063 RCV004768821

NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys)

SNV
Germline

Chr15:48481691

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043466325

1 SubmittersRCV001062711

NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg)

SNV
Germline

Chr15:48481769

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043467154

1 SubmittersRCV001050938

NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly)

SNV
Germline

Chr15:48483934

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2043485666

1 SubmittersRCV001055897

NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr)

SNV
Germline

Chr15:48487167

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043515038

2 SubmittersRCV001070752 RCV003886480

NM_000138.5(FBN1):c.3385T>C (p.Cys1129Arg)

SNV
Germline

Chr15:48487390

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043517941

1 SubmittersRCV001061318

NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter)

SNV
Germline

Chr15:48488485

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555398685

1 SubmittersRCV001042795

NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser)

SNV
Germline

Chr15:48489947

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_140592

1 SubmittersRCV001064051

NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)

SNV
Germline

Chr15:48494221

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_778951277

6 SubmittersRCV001187882 RCV001057340 RCV001194181 RCV003393822 RCV004000088

NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)

SNV
Germline

Chr15:48495156

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043594915

3 SubmittersRCV001058568 RCV001551554 RCV002451242

NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg)

SNV
Germline

Chr15:48495216

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043595650

3 SubmittersRCV001063161 RCV004000132

NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser)

SNV
Germline

Chr15:48495239

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597568968

1 SubmittersRCV001071987

NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)

SNV
Germline

Chr15:48495240

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_2043596204

2 SubmittersRCV002246011 RCV001038556

NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)

SNV
Germline

Chr15:48497269

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769641351

5 SubmittersRCV001182749 RCV001036089 RCV001759934

NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser)

SNV
Germline

Chr15:48503804

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2043684108

1 SubmittersRCV001059932

NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)

SNV
Germline

Chr15:48503849

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399763

5 SubmittersRCV001059082 RCV002246016 RCV004720058

NM_000138.5(FBN1):c.1955G>A (p.Cys652Tyr)

SNV
Germline

Chr15:48505030

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043696418

1 SubmittersRCV001063817

NM_000138.5(FBN1):c.1954T>C (p.Cys652Arg)

SNV
Germline

Chr15:48505031

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043696438

1 SubmittersRCV001041500

NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg)

SNV
Germline

Chr15:48510095

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043746138

2 SubmittersRCV001037766 RCV002400223

NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser)

SNV
Germline

Chr15:48513642

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043778680

1 SubmittersRCV001050328

NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr15:48520737

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043846274

2 SubmittersRCV001034963 RCV002409354

NM_000138.5(FBN1):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr15:48537668

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2044025100

1 SubmittersRCV001047892

NM_000138.5(FBN1):c.616A>T (p.Lys206Ter)

SNV
Germline

Chr15:48537731

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2044026093

1 SubmittersRCV001060449

NM_000138.5(FBN1):c.502T>C (p.Cys168Arg)

SNV
Germline

Chr15:48596319

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2044515247

2 SubmittersRCV001043747 RCV001170328

NM_000138.5(FBN1):c.203G>T (p.Cys68Phe)

SNV
Germline

Chr15:48613054

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597633163

1 SubmittersRCV001044191

NM_000138.5(FBN1):c.198C>G (p.Tyr66Ter)

SNV
Germline

Chr15:48613059

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2044669179

1 SubmittersRCV001044298

NM_000138.5(FBN1):c.6997+1G>C

SNV
Germline

Chr15:48428345

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2042997306

1 SubmittersRCV001056683

NM_000138.5(FBN1):c.6037+2T>C

SNV
Germline

Chr15:48444539

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2043139226

1 SubmittersRCV001046461

NM_000138.5(FBN1):c.3463+1G>A

SNV
Germline

Chr15:48487311

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_397515792

1 SubmittersRCV001038405

NM_000138.5(FBN1):c.2854+2T>C

SNV
Germline

Chr15:48492459

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043568077

1 SubmittersRCV001063264

NM_000138.5(FBN1):c.7571-7C>A

SNV
Germline

Chr15:48421693

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1229246967

2 SubmittersRCV001644907 RCV001037872

NM_000138.5(FBN1):c.6740-10T>G

SNV
Germline

Chr15:48430812

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1456822662

3 SubmittersRCV002286802 RCV001039063

NM_000138.5(FBN1):c.6496+1G>T

SNV
Germline

Chr15:48436960

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555395188

1 SubmittersRCV001070812

NM_000138.5(FBN1):c.5671+1G>A

SNV
Germline

Chr15:48448767

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_112104270

1 SubmittersRCV001047998

NM_000138.5(FBN1):c.5545+2T>C

SNV
Germline

Chr15:48452560

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043209059

1 SubmittersRCV001063283

NM_000138.5(FBN1):c.5065+1G>A

SNV
Germline

Chr15:48463898

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1296209846

2 SubmittersRCV001052451 RCV004697034

NM_000138.5(FBN1):c.3590-2A>G

SNV
Germline

Chr15:48485498

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043498977

1 SubmittersRCV001065637

NM_000138.5(FBN1):c.3209-2A>C

SNV
Germline

Chr15:48488243

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043526284

2 SubmittersRCV001046550 RCV004796355

NM_000138.5(FBN1):c.7454-2A>G

SNV
Germline

Chr15:48422070

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2042947959

1 SubmittersRCV001061616

NM_000138.5(FBN1):c.7205-1G>C

SNV
Germline

Chr15:48425865

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728266

1 SubmittersRCV001037801

NM_000138.5(FBN1):c.3083-2A>C

SNV
Germline

Chr15:48488495

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043529474

1 SubmittersRCV001035768

NM_000138.5(FBN1):c.1468+2T>G

SNV
Germline

Chr15:48515385

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_794728167

1 SubmittersRCV001049728

NM_000138.5(FBN1):c.6997+1G>A

SNV
Germline

Chr15:48428345

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2042997306

2 SubmittersRCV001043974 RCV002246013

NM_000138.5(FBN1):c.6872-3C>G

SNV
Germline

Chr15:48428474

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2042999551

1 SubmittersRCV001049415

NM_000138.5(FBN1):c.4582+1G>A

SNV
Germline

Chr15:48468411

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397195

2 SubmittersRCV001055191 RCV002246014

NM_000138.5(FBN1):c.2539+1G>C

SNV
Germline

Chr15:48495468

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728192

1 SubmittersRCV001066459

NM_000138.5(FBN1):c.1715-2A>G

SNV
Germline

Chr15:48508706

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043733370

2 SubmittersRCV001035658 RCV001508389

NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp)

SNV
Germline

Chr15:48488417

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_886039054

1 SubmittersRCV001072137

NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)

SNV
Germline

Chr15:48468505

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555397213

1 SubmittersRCV001089656

NM_000138.5(FBN1):c.*2045G>A

SNV
Germline

Chr15:48408945

Conflicting classifications of pathogenicity

Marfan syndrome
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Weill-Marchesani syndrome

Criteria Provided
Conflicting Classifications

rs_372254135

1 SubmittersRCV001115769 RCV001115771 RCV001115768 RCV001115770 RCV001115766 RCV001115767 RCV001120689

NM_000138.5(FBN1):c.*1341C>T

SNV
Germline

Chr15:48409649

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Stiff skin syndrome
Acromicric dysplasia
Marfan syndrome
Weill-Marchesani syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766719764

2 SubmittersRCV001116190 RCV001116191 RCV001117627 RCV001117628 RCV001117629 RCV001117626 RCV002292607

NM_000138.5(FBN1):c.*779C>T

SNV
Germline

Chr15:48410211

Conflicting classifications of pathogenicity

Weill-Marchesani syndrome
Stiff skin syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_113200355

1 SubmittersRCV001116505 RCV001117949 RCV001117950 RCV001117945 RCV001117946 RCV001117947 RCV001117948

NM_000138.5(FBN1):c.*43A>T

SNV
Germline

Chr15:48410947

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Stiff skin syndrome
Marfan syndrome
Weill-Marchesani syndrome
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

rs_144710695

1 SubmittersRCV001121793 RCV001121795 RCV001121791 RCV001121792 RCV001121794 RCV001121796 RCV001121797

NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)

SNV
Germline

Chr15:48427707

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
not specified
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
8 conditions
Marfan syndrome
Stiff skin syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_376372763

7 SubmittersRCV001118660 RCV001118662 RCV001293524 RCV001118659 RCV001118661 RCV002491369 RCV001118657 RCV001118658 RCV001365203

NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)

SNV
Germline

Chr15:48456755

Conflicting classifications of pathogenicity

Acromicric dysplasia
Weill-Marchesani syndrome
Familial thoracic aortic aneurysm and aortic dissection
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_867058901

4 SubmittersRCV001117632 RCV001117634 RCV001117635 RCV001117636 RCV001117633 RCV001119220 RCV001862899 RCV004773296

NM_000138.5(FBN1):c.2031T>A (p.Ala677=)

SNV
Germline

Chr15:48503869

Conflicting classifications of pathogenicity

Stiff skin syndrome
Marfan syndrome
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome
Acromicric dysplasia

Criteria Provided
Conflicting Classifications

rs_762312642

3 SubmittersRCV001118573 RCV001120099 RCV001120100 RCV001120101 RCV001120102 RCV001120103

NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)

SNV
Germline

Chr15:48644679

Conflicting classifications of pathogenicity

Marfan syndrome
Acromicric dysplasia
Stiff skin syndrome
Ectopia lentis 1, isolated, autosomal dominant
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome

Criteria Provided
Conflicting Classifications

rs_371130701

2 SubmittersRCV001115964 RCV001115965 RCV001115966 RCV001115967 RCV001115968 RCV001120891 RCV001856524 RCV001120892

NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)

SNV
Germline

Chr15:48644732

Conflicting classifications of pathogenicity

Weill-Marchesani syndrome
Stiff skin syndrome
Geleophysic dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_773614956

4 SubmittersRCV001117420 RCV001117421 RCV001119024 RCV001119025 RCV001119026 RCV001117422 RCV001117423 RCV003769159

NM_000138.5(FBN1):c.6739+10C>T

SNV
Germline

Chr15:48432856

Conflicting classifications of pathogenicity

Marfan syndrome
Acromicric dysplasia
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1179540326

2 SubmittersRCV001117204 RCV001117206 RCV001117205 RCV001118830 RCV001118831 RCV001118832 RCV002556491

NM_000138.5(FBN1):c.3712+9G>T

SNV
Germline

Chr15:48485365

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Weill-Marchesani syndrome
Stiff skin syndrome
Geleophysic dysplasia
Acromicric dysplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_769251450

2 SubmittersRCV001119493 RCV001119494 RCV001119496 RCV001119498 RCV001119495 RCV001119497 RCV001121495 RCV002069940

NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)

SNV
Germline

Chr15:48465615

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_756227025

5 SubmittersRCV001170539 RCV002559635 RCV004000274

NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)

SNV
Germline

Chr15:48481717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1566908083

5 SubmittersRCV001170778 RCV002240741 RCV002559637 RCV003319444

NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)

SNV
Germline

Chr15:48495140

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_2043594601

4 SubmittersRCV001171253 RCV003235484 RCV002559640 RCV003476884

NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)

SNV
Germline

Chr15:48508632

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043732180

4 SubmittersRCV001387012 RCV001170320 RCV001843957

NM_000138.5(FBN1):c.5789-1G>A

SNV
Germline

Chr15:48445505

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043152080

2 SubmittersRCV001170535 RCV002558711

NM_000138.5(FBN1):c.1961-1G>A

SNV
Germline

Chr15:48503940

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043686634

3 SubmittersRCV001873580 RCV001171258 RCV001251260

NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)

SNV
Germline

Chr15:48411319

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_775172479

2 SubmittersRCV001188037 RCV002560004

NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)

SNV
Germline

Chr15:48412672

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_759494825

3 SubmittersRCV001177855 RCV001339708 RCV002276653

NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)

SNV
Germline

Chr15:48415561

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_745650955

4 SubmittersRCV001176210 RCV002555453 RCV002246017

NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)

SNV
Germline

Chr15:48425786

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_565474071

2 SubmittersRCV001185461 RCV002559906

NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)

SNV
Germline

Chr15:48427582

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_774698871

5 SubmittersRCV001182991 RCV001295872 RCV004008344 RCV002497641 RCV004528404

NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)

SNV
Germline

Chr15:48427590

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_199750146

6 SubmittersRCV001180238 RCV002480606 RCV003393867 RCV003769963 RCV003235486 RCV004006641

NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)

SNV
Germline

Chr15:48430683

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_551736585

2 SubmittersRCV001188731 RCV001343879

NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)

SNV
Germline

Chr15:48437352

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_572754741

5 SubmittersRCV001863015 RCV001190211 RCV001796381 RCV004010417 RCV004538422

NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)

SNV
Germline

Chr15:48437363

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_363816

3 SubmittersRCV001185462 RCV003770063

NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)

SNV
Germline

Chr15:48444615

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142912485

5 SubmittersRCV001181671 RCV002483984 RCV004006756 RCV002559787 RCV004783906

NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)

SNV
Germline

Chr15:48445417

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_773486280

5 SubmittersRCV001187082 RCV001221334 RCV002497649 RCV004008664

NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)

SNV
Germline

Chr15:48448836

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_145082616

4 SubmittersRCV001192230 RCV002560147 RCV002491585 RCV004803556

NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)

SNV
Germline

Chr15:48448842

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_773133679

2 SubmittersRCV001187012 RCV003770091

NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)

SNV
Germline

Chr15:48448843

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_367586350

3 SubmittersRCV001189048 RCV002069059 RCV004010328

NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)

SNV
Germline

Chr15:48448854

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_976161721

2 SubmittersRCV001178031 RCV001875877

NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)

SNV
Germline

Chr15:48456747

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_759791896

4 SubmittersRCV001184178 RCV002484005 RCV002560852 RCV004008440

NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)

SNV
Germline

Chr15:48463220

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_373320952

6 SubmittersRCV001188311 RCV002480625 RCV002560924 RCV004777990 RCV004010277

NM_000138.5(FBN1):c.4581T>C (p.Val1527=)

SNV
Germline

Chr15:48468413

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2043340510

2 SubmittersRCV001189189 RCV001862988

NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)

SNV
Germline

Chr15:48470756

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_397515806

4 SubmittersRCV001185399 RCV001374758 RCV001235478 RCV003444780

NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)

SNV
Germline

Chr15:48474275

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_747867726

5 SubmittersRCV001191054 RCV001293526 RCV001348656 RCV002497668 RCV004010479

NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)

SNV
Germline

Chr15:48474313

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1488326228

5 SubmittersRCV001183257 RCV002559828 RCV002483997 RCV004726930 RCV004803491

NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)

SNV
Germline

Chr15:48483890

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Geleophysic dysplasia 2
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_772890884

5 SubmittersRCV001180697 RCV002249762 RCV002249763 RCV003769971 RCV004006683

NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)

SNV
Germline

Chr15:48485398

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_759424465

6 SubmittersRCV003320810 RCV001191991 RCV003448374 RCV002560135

NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)

SNV
Germline

Chr15:48489917

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_754040534

3 SubmittersRCV001181363 RCV002560811 RCV004006736

NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)

SNV
Germline

Chr15:48490050

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_142964120

3 SubmittersRCV001176989 RCV001234573 RCV004803446

NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)

SNV
Germline

Chr15:48494249

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_772308703

5 SubmittersRCV001176116 RCV002221614 RCV002483946 RCV003769872 RCV004000323

NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)

SNV
Germline

Chr15:48495134

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1393818056

2 SubmittersRCV001179949 RCV003769954

NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)

SNV
Germline

Chr15:48495477

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_751564716

4 SubmittersRCV001183157 RCV001586028 RCV003770018 RCV004008354

NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)

SNV
Germline

Chr15:48495487

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1381506466

3 SubmittersRCV001192003 RCV002272406 RCV003770171

NM_000138.5(FBN1):c.2502T>A (p.Ser834=)

SNV
Germline

Chr15:48495506

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_754372754

5 SubmittersRCV001176842 RCV001751308 RCV001875826 RCV004006331

NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)

SNV
Germline

Chr15:48503810

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769708437

4 SubmittersRCV001182094 RCV001240901 RCV004008272 RCV003145368

NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)

SNV
Germline

Chr15:48505127

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1220853793

2 SubmittersRCV001185766 RCV001859113

NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)

SNV
Germline

Chr15:48508672

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_767293952

4 SubmittersRCV001189872 RCV002484037 RCV004010395 RCV002559170

NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)

SNV
Germline

Chr15:48510133

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_963564435

5 SubmittersRCV001190762 RCV001508391 RCV002560093 RCV004010457

NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)

SNV
Germline

Chr15:48513575

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_749253325

4 SubmittersRCV001189501 RCV002484033 RCV003770135

NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)

SNV
Germline

Chr15:48513624

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2043778389

3 SubmittersRCV001181488 RCV001255465 RCV003769986

NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)

SNV
Germline

Chr15:48516233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_146044644

5 SubmittersRCV001184857 RCV001811687 RCV001255475 RCV002067950 RCV004803505

NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)

SNV
Germline

Chr15:48516299

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_779930519

3 SubmittersRCV001186844 RCV002559116 RCV004008636

NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)

SNV
Germline

Chr15:48520688

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_762598979

4 SubmittersRCV001178309 RCV002480600 RCV003769925 RCV004006464

NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)

SNV
Germline

Chr15:48520698

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1191931914

3 SubmittersRCV001178294 RCV001875892 RCV004006462

NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)

SNV
Germline

Chr15:48600222

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_753900024

6 SubmittersRCV001186949 RCV003129729 RCV002480618 RCV003770088 RCV004008644

NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)

SNV
Germline

Chr15:48600222

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_753900024

3 SubmittersRCV001183263 RCV002559829

NM_000138.5(FBN1):c.155C>T (p.Ala52Val)

SNV
Germline

Chr15:48644615

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1258637670

5 SubmittersRCV001179937 RCV003117812 RCV004794498 RCV004807347

NM_000138.5(FBN1):c.76G>C (p.Asp26His)

SNV
Germline

Chr15:48644694

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_146267697

4 SubmittersRCV001183094 RCV004782664 RCV001315149 RCV004008350

NM_000138.5(FBN1):c.62C>T (p.Thr21Met)

SNV
Germline

Chr15:48644708

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1489806847

4 SubmittersRCV001180957 RCV001194175 RCV001876009 RCV004006704

NM_000138.5(FBN1):c.7454-4G>T

SNV
Germline

Chr15:48422072

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1365010331

2 SubmittersRCV001182903 RCV002559815

NM_000138.5(FBN1):c.4943-3T>C

SNV
Germline

Chr15:48464024

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_367594261

4 SubmittersRCV001186434 RCV001201310 RCV001859117 RCV004008604

NM_000138.5(FBN1):c.2678-14G>A

SNV
Germline

Chr15:48494268

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

rs_369475895

3 SubmittersRCV001187878 RCV002068484 RCV002222672

NM_000138.5(FBN1):c.4748-12T>A

SNV
Germline

Chr15:48465870

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_368723745

3 SubmittersRCV004010321 RCV001188938 RCV002560034

NM_000138.5(FBN1):c.6616+5A>G

SNV
Germline

Chr15:48434589

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_1381778697

4 SubmittersRCV001177390 RCV001875845 RCV004538405

NM_000138.5(FBN1):c.6380-3A>G

SNV
Germline

Chr15:48437080

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_567703513

6 SubmittersRCV001191294 RCV001192953 RCV001351678 RCV001587212

NM_000138.5(FBN1):c.5789-13G>A

SNV
Germline

Chr15:48445517

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Progeroid and marfanoid aspect-lipodystrophy syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_777593835

3 SubmittersRCV001183913 RCV001198373 RCV002068369

NM_000138.5(FBN1):c.4337-6C>G

SNV
Germline

Chr15:48470762

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1225924246

3 SubmittersRCV001192131 RCV003770174 RCV004803554

NM_000138.5(FBN1):c.443-12C>A

SNV
Germline

Chr15:48596390

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1027154934

2 SubmittersRCV001189103 RCV002559161

NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)

SNV
Germline

Chr15:48488432

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_112384723

2 SubmittersRCV001192916 RCV002069210

NM_000138.5(FBN1):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr15:48600232

Pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_2044551565

1 SubmittersRCV001192918

NM_000138.5(FBN1):c.3464-3C>T

SNV
Germline

Chr15:48487203

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_770992241

3 SubmittersRCV001192919 RCV002560158 RCV004010602

NM_000138.5(FBN1):c.1714+1G>T

SNV
Germline

Chr15:48510043

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043745437

2 SubmittersRCV001192917 RCV003142118

NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala)

SNV
Germline

Chr15:48515453

Likely pathogenic

Marfan syndrome
Left ventricular diastolic dysfunction

Criteria Provided
Single Submitter

rs_2043792730

1 SubmittersRCV001253825

NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)

SNV
Germline

Chr15:48503789

Pathogenic

Progeroid and marfanoid aspect-lipodystrophy syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043683891

2 SubmittersRCV001198811 RCV001863134

NM_000138.5(FBN1):c.945T>A (p.Cys315Ter)

SNV
Germline

Chr15:48526173

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_2043912235

1 SubmittersRCV001199890

NM_000138.5(FBN1):c.8051+20G>T

SNV
Germline

Chr15:48415516

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_781718760

2 SubmittersRCV001199903 RCV002561070

NM_000138.5(FBN1):c.8444T>A (p.Leu2815His)

SNV
Germline

Chr15:48411162

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_113170280

1 SubmittersRCV001221579

NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser)

SNV
Germline

Chr15:48422057

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1057520728

1 SubmittersRCV001219717

NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe)

SNV
Germline

Chr15:48427683

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2042988482

1 SubmittersRCV001222835

NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe)

SNV
Germline

Chr15:48428351

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_397515842

1 SubmittersRCV001217221

NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe)

SNV
Germline

Chr15:48430790

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728256

1 SubmittersRCV001218649

NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter)

SNV
Germline

Chr15:48437866

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043085394

1 SubmittersRCV001225065

NM_000138.5(FBN1):c.5960G>C (p.Gly1987Ala)

SNV
Germline

Chr15:48444618

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043140093

1 SubmittersRCV001215547

NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)

SNV
Germline

Chr15:48452640

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_567397762

3 SubmittersRCV001218724 RCV003528279 RCV004010722

NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg)

SNV
Germline

Chr15:48485452

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043497933

1 SubmittersRCV001215434

NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr)

SNV
Germline

Chr15:48488166

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1597563934

1 SubmittersRCV001220691

NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly)

SNV
Germline

Chr15:48488194

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555398637

1 SubmittersRCV001216980

NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr)

SNV
Germline

Chr15:48488418

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043528397

1 SubmittersRCV001217445

NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)

SNV
Germline

Chr15:48510093

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_531101773

3 SubmittersRCV001216461 RCV001374799 RCV002402647

NM_000138.5(FBN1):c.266G>T (p.Cys89Phe)

SNV
Germline

Chr15:48610808

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_112660651

2 SubmittersRCV001215009 RCV001537030

NM_000138.5(FBN1):c.7810C>T (p.Gln2604Ter)

SNV
Germline

Chr15:48420696

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_111496285

1 SubmittersRCV001213217

NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter)

SNV
Germline

Chr15:48422045

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2042947671

1 SubmittersRCV001205687

NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr)

SNV
Germline

Chr15:48434635

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043050838

1 SubmittersRCV001206012

NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly)

SNV
Germline

Chr15:48444613

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2043139988

1 SubmittersRCV001210566

NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg)

SNV
Germline

Chr15:48446712

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043162224

2 SubmittersRCV001202784 RCV004017803

NM_000138.5(FBN1):c.5747G>T (p.Cys1916Phe)

SNV
Germline

Chr15:48446747

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_397515827

1 SubmittersRCV001209489

NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp)

SNV
Germline

Chr15:48456641

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2043239853

1 SubmittersRCV001208968

NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile)

SNV
Germline

Chr15:48468483

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555397209

1 SubmittersRCV001201573

NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)

SNV
Germline

Chr15:48492580

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_754919275

3 SubmittersRCV001213808 RCV002484164 RCV004010698

NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter)

SNV
Germline

Chr15:48495241

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

rs_111981744

2 SubmittersRCV001207970 RCV004690015

NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg)

SNV
Germline

Chr15:48496106

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043606316

2 SubmittersRCV001203786 RCV002246018

NM_000138.5(FBN1):c.1728C>G (p.Cys576Trp)

SNV
Germline

Chr15:48508691

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043733087

1 SubmittersRCV001214181

NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr)

SNV
Germline

Chr15:48510136

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555400064

2 SubmittersRCV001208494 RCV002246019

NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly)

SNV
Germline

Chr15:48520800

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555400612

1 SubmittersRCV001203116

NM_000138.5(FBN1):c.5296+3G>T

SNV
Germline

Chr15:48460243

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043270772

1 SubmittersRCV001211963

NM_000138.5(FBN1):c.2168-1G>C

SNV
Germline

Chr15:48497392

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399387

1 SubmittersRCV001211389

NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)

SNV
Germline

Chr15:48420795

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2042934926

2 SubmittersRCV001238042 RCV003150413

NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter)

SNV
Germline

Chr15:48427658

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_886039063

1 SubmittersRCV001236657

NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly)

SNV
Germline

Chr15:48430716

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043017257

1 SubmittersRCV001225894

NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly)

SNV
Germline

Chr15:48446748

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_794728238

1 SubmittersRCV001237681

NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr)

SNV
Germline

Chr15:48463144

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043292594

1 SubmittersRCV001228640

NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter)

SNV
Germline

Chr15:48463948

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555396848

1 SubmittersRCV001233777

NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp)

SNV
Germline

Chr15:48468521

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043341787

1 SubmittersRCV001225622

NM_000138.5(FBN1):c.2861G>C (p.Arg954Pro)

SNV
Germline

Chr15:48490072

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_112911555

1 SubmittersRCV001234917

NM_000138.5(FBN1):c.2686T>C (p.Cys896Arg)

SNV
Germline

Chr15:48494246

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043584517

1 SubmittersRCV001235718

NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)

SNV
Germline

Chr15:48495513

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_397515775

3 SubmittersRCV001237693 RCV002430015 RCV004719110

NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr)

SNV
Germline

Chr15:48495546

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043600123

1 SubmittersRCV001236877

NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr)

SNV
Germline

Chr15:48496144

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_886038984

2 SubmittersRCV001233897 RCV004719109

NM_000138.5(FBN1):c.2249G>A (p.Cys750Tyr)

SNV
Germline

Chr15:48497310

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043616369

2 SubmittersRCV001237316 RCV003992475

NM_000138.5(FBN1):c.1999A>T (p.Arg667Ter)

SNV
Germline

Chr15:48503901

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043685929

1 SubmittersRCV001228984

NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)

SNV
Germline

Chr15:48505094

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_2043697314

3 SubmittersRCV001232534 RCV003128751 RCV003313996

NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe)

SNV
Germline

Chr15:48508626

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555399955

1 SubmittersRCV001237302

NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)

SNV
Germline

Chr15:48510050

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_113902534

4 SubmittersRCV001229193 RCV002283533 RCV002402716 RCV003398981

NM_000138.5(FBN1):c.355T>C (p.Cys119Arg)

SNV
Germline

Chr15:48600226

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2044551443

1 SubmittersRCV001232989

NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)

SNV
Germline

Chr15:48613057

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2044669166

2 SubmittersRCV001812259 RCV001225352

NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser)

SNV
Germline

Chr15:48415599

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597509631

2 SubmittersRCV001247322 RCV003229032

NM_000138.5(FBN1):c.6734G>A (p.Cys2245Tyr)

SNV
Germline

Chr15:48432871

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043034575

1 SubmittersRCV001243591

NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg)

SNV
Germline

Chr15:48488200

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_112553035

1 SubmittersRCV001242472

NM_000138.5(FBN1):c.2639G>T (p.Gly880Val)

SNV
Germline

Chr15:48495161

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_886038953

1 SubmittersRCV001245627

NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr)

SNV
Germline

Chr15:48515428

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043792070

2 SubmittersRCV001245896 RCV004619587

NM_000138.5(FBN1):c.238T>C (p.Cys80Arg)

SNV
Germline

Chr15:48613019

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_111764111

1 SubmittersRCV001240636

NM_000138.5(FBN1):c.4747+3A>T

SNV
Germline

Chr15:48467935

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555397145

1 SubmittersRCV001234148

NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly)

SNV
Germline

Chr15:48472670

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043386794

2 SubmittersRCV001249769 RCV001879762

NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp)

SNV
Germline

Chr15:48448803

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2043178850

1 SubmittersRCV001250215

NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp)

SNV
Germline

Chr15:48481698

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2043466446

1 SubmittersRCV001250534

NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)

SNV
Germline

Chr15:48472637

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Weill-Marchesani syndrome 2, dominant

Criteria Provided
Conflicting Classifications

rs_768531262

4 SubmittersRCV001253430 RCV003770318 RCV004546623

NM_000138.5(FBN1):c.5225-19C>T

SNV
Germline

Chr15:48460336

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_375761937

2 SubmittersRCV001255519 RCV002069358

NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)

SNV
Germline

Chr15:48465597

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_374520085

3 SubmittersRCV001258187 RCV002570634 RCV003150415

NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)

SNV
Germline

Chr15:48481688

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1406315227

7 SubmittersRCV001258188 RCV002223293 RCV002486004 RCV002570635 RCV004690039 RCV004822342

NM_000138.5(FBN1):c.7454-6T>C

SNV
Germline

Chr15:48422074

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1253572031

2 SubmittersRCV001260304 RCV003770350

NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)

SNV
Germline

Chr15:48425374

Pathogenic/Likely pathogenic

Isolated thoracic aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394390

3 SubmittersRCV001374813 RCV002379964 RCV001880027

NM_000138.5(FBN1):c.7205-2A>G

SNV
Germline

Chr15:48425866

Pathogenic/Likely pathogenic

Isolated thoracic aortic aneurysm
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555394450

2 SubmittersRCV001374815 RCV003770360

NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr)

SNV
Germline

Chr15:48441834

Pathogenic/Likely pathogenic

Isolated thoracic aortic aneurysm
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141245523

2 SubmittersRCV001374841 RCV001880029

NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter)

SNV
Germline

Chr15:48448879

Pathogenic/Likely pathogenic

Isolated thoracic aortic aneurysm
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141252259

2 SubmittersRCV001374845 RCV003770361

NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe)

SNV
Germline

Chr15:48468522

Pathogenic/Likely pathogenic

Isolated thoracic aortic aneurysm
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141273076

2 SubmittersRCV001374754 RCV003770359

NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)

SNV
Germline

Chr15:48496145

Likely pathogenic

Isolated thoracic aortic aneurysm
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141305039

2 SubmittersRCV001374790 RCV003336361

NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)

SNV
Germline

Chr15:48520812

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Stiff skin syndrome

Criteria Provided
Conflicting Classifications

rs_1161109360

7 SubmittersRCV002379965 RCV001374820 RCV001508393 RCV001880028 RCV004004932 RCV004557496

NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)

SNV
Germline

Chr15:48644606

Likely pathogenic

Isolated thoracic aortic aneurysm
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2140787387

2 SubmittersRCV001374824 RCV002537626

NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly)

SNV
Germline

Chr15:48415690

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1555393871

1 SubmittersRCV001264385

NM_000138.5(FBN1):c.1147+19A>G

SNV
Germline

Chr15:48520640

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_369942195

2 SubmittersRCV001264548 RCV002069386

NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)

SNV
Germline

Chr15:48430793

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2043018196

1 SubmittersRCV003444814

NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)

SNV
Germline

Chr15:48412572

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150065311

2 SubmittersRCV001309035 RCV001812296

NM_000138.5(FBN1):c.3590-11A>G

SNV
Germline

Chr15:48485507

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_777262423

3 SubmittersRCV001290540 RCV002543009 RCV003528285

NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys)

SNV
Germline

Chr15:48432877

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_769589759

2 SubmittersRCV001301086 RCV004004998

NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)

SNV
Germline

Chr15:48437387

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1165109120

4 SubmittersRCV001529950 RCV001306274

NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)

SNV
Germline

Chr15:48487141

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

rs_756754760

4 SubmittersRCV001301453 RCV001797170 RCV002451670 RCV002476397

NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)

SNV
Germline

Chr15:48487416

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Conflicting Classifications

rs_1183556572

2 SubmittersRCV001301341 RCV002476396

NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)

SNV
Germline

Chr15:48520715

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_536588176

4 SubmittersRCV001301357 RCV002224050 RCV002447290 RCV003989672

NM_000138.5(FBN1):c.6998-13A>G

SNV
Germline

Chr15:48427786

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2042989627

2 SubmittersRCV001310218 RCV003770624

NM_000138.5(FBN1):c.5095T>A (p.Tyr1699Asn)

SNV
Germline

Chr15:48463211

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043293738

1 SubmittersRCV001312712

NM_000138.5(FBN1):c.169A>G (p.Asn57Asp)

SNV
Germline

Chr15:48613088

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2044669685

1 SubmittersRCV001317674

NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr)

SNV
Germline

Chr15:48474617

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043405073

1 SubmittersRCV003079193

NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)

SNV
Germline

Chr15:48490072

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_112911555

2 SubmittersRCV001331011 RCV003770832

NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp)

SNV
Germline

Chr15:48425404

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2042971166

2 SubmittersRCV001340136 RCV004822363

NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)

SNV
Germline

Chr15:48490022

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_766660415

5 SubmittersRCV001342328 RCV001526229 RCV001836989 RCV004005178

NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn)

SNV
Germline

Chr15:48463132

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141266590

1 SubmittersRCV001369374

NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)

SNV
Germline

Chr15:48465802

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_780957696

4 SubmittersRCV001577798 RCV003528292 RCV001363726 RCV004006782

NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys)

SNV
Germline

Chr15:48487382

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_775565475

1 SubmittersRCV001361983

NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)

SNV
Germline

Chr15:48516224

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_368089138

2 SubmittersRCV001359974 RCV004005268

NM_000138.5(FBN1):c.776G>T (p.Gly259Val)

SNV
Germline

Chr15:48534166

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_751169871

1 SubmittersRCV001374368

NM_000138.5(FBN1):c.8051+2T>A

SNV
Germline

Chr15:48415534

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141214505

1 SubmittersRCV001377174

NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser)

SNV
Germline

Chr15:48444613

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043139988

1 SubmittersRCV001378489

NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser)

SNV
Germline

Chr15:48445469

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555395762

1 SubmittersRCV001379133

NM_000138.5(FBN1):c.4748-1G>A

SNV
Germline

Chr15:48465859

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141270027

1 SubmittersRCV001377265

NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe)

SNV
Germline

Chr15:48468000

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141272349

1 SubmittersRCV001378820

NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly)

SNV
Germline

Chr15:48488119

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141294587

1 SubmittersRCV001378279

NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly)

SNV
Germline

Chr15:48503814

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141315718

1 SubmittersRCV001377526

NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr)

SNV
Germline

Chr15:48505102

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399825

2 SubmittersRCV001377266 RCV002254964

NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys)

SNV
Germline

Chr15:48510080

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1064794283

1 SubmittersRCV001377914

NM_000138.5(FBN1):c.938G>T (p.Cys313Phe)

SNV
Germline

Chr15:48526180

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141343367

1 SubmittersRCV001379183

NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe)

SNV
Germline

Chr15:48412738

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141211820

1 SubmittersRCV001383754

NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter)

SNV
Germline

Chr15:48415540

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141214520

3 SubmittersRCV001383755 RCV001780328

NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter)

SNV
Germline

Chr15:48415621

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141214772

1 SubmittersRCV001383756

NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter)

SNV
Germline

Chr15:48421561

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141221739

1 SubmittersRCV001383926

NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter)

SNV
Germline

Chr15:48421673

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1303268147

1 SubmittersRCV001387997

NM_000138.5(FBN1):c.7454-1G>C

SNV
Germline

Chr15:48422069

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141222615

1 SubmittersRCV001386073

NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser)

SNV
Germline

Chr15:48430749

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1057522272

1 SubmittersRCV001381228

NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly)

SNV
Germline

Chr15:48437370

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_363815

1 SubmittersRCV001382444

NM_000138.5(FBN1):c.6313+1G>A

SNV
Germline

Chr15:48437767

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141241397

1 SubmittersRCV001387307

NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly)

SNV
Germline

Chr15:48437828

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141241496

1 SubmittersRCV001380309

NM_000138.5(FBN1):c.5802T>G (p.Cys1934Trp)

SNV
Germline

Chr15:48445491

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141249297

1 SubmittersRCV001384661

NM_000138.5(FBN1):c.5788G>C (p.Asp1930His)

SNV
Germline

Chr15:48446706

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555395820

1 SubmittersRCV001384077

NM_000138.5(FBN1):c.5672-2A>T

SNV
Germline

Chr15:48446824

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003780593

NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr)

SNV
Germline

Chr15:48452654

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141256069

2 SubmittersRCV001389171 RCV004017833

NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly)

SNV
Germline

Chr15:48456688

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555396427

1 SubmittersRCV001384663

NM_000138.5(FBN1):c.5296+5G>A

SNV
Germline

Chr15:48460241

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566902515

2 SubmittersRCV001389173 RCV001509489

NM_000138.5(FBN1):c.5066-1G>T

SNV
Germline

Chr15:48463241

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_397515819

1 SubmittersRCV001381553

NM_000138.5(FBN1):c.4942+2T>C

SNV
Germline

Chr15:48465566

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141269534

1 SubmittersRCV001381516

NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter)

SNV
Germline

Chr15:48465658

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141269730

1 SubmittersRCV001384289

NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter)

SNV
Germline

Chr15:48467954

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141272261

2 SubmittersRCV001382483 RCV004697130

NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter)

SNV
Germline

Chr15:48467962

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141272276

1 SubmittersRCV001384648

NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg)

SNV
Germline

Chr15:48468490

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141273019

2 SubmittersRCV001381097 RCV003481103

NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter)

SNV
Germline

Chr15:48468503

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043341481

1 SubmittersRCV001383269

NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly)

SNV
Germline

Chr15:48470640

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_730880101

1 SubmittersRCV001384290

NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr)

SNV
Germline

Chr15:48470711

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1057522902

1 SubmittersRCV001381556

NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter)

SNV
Germline

Chr15:48472606

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141277951

1 SubmittersRCV001386327

NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser)

SNV
Germline

Chr15:48472617

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_201273753

1 SubmittersRCV001386703

NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg)

SNV
Germline

Chr15:48472629

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043386188

1 SubmittersRCV001386178

NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter)

SNV
Germline

Chr15:48474285

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141279711

1 SubmittersRCV001387939

NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr)

SNV
Germline

Chr15:48474299

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501026

2 SubmittersRCV001389340 RCV002246020

NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg)

SNV
Germline

Chr15:48474573

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141280160

1 SubmittersRCV001384974

NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter)

SNV
Germline

Chr15:48474642

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141280296

1 SubmittersRCV001386705

NM_000138.5(FBN1):c.3511T>C (p.Cys1171Arg)

SNV
Germline

Chr15:48487153

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141293252

1 SubmittersRCV001381675

NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr)

SNV
Germline

Chr15:48488460

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141295277

1 SubmittersRCV001381677

NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn)

SNV
Germline

Chr15:48492461

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141300251

1 SubmittersRCV001390149

NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg)

SNV
Germline

Chr15:48492539

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141300401

2 SubmittersRCV001389463 RCV002246021

NM_000138.5(FBN1):c.2764A>T (p.Lys922Ter)

SNV
Germline

Chr15:48492551

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141300454

1 SubmittersRCV001380499

NM_000138.5(FBN1):c.2648G>A (p.Trp883Ter)

SNV
Germline

Chr15:48495152

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141303557

1 SubmittersRCV001389464

NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter)

SNV
Germline

Chr15:48503905

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141315893

2 SubmittersRCV001390929 RCV002250760

NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr)

SNV
Germline

Chr15:48505075

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1478695794

1 SubmittersRCV001387010

NM_000138.5(FBN1):c.1838-2A>G

SNV
Germline

Chr15:48505149

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141317516

1 SubmittersRCV001387011

NM_000138.5(FBN1):c.1601G>C (p.Cys534Ser)

SNV
Germline

Chr15:48510157

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_397515759

1 SubmittersRCV001390363

NM_000138.5(FBN1):c.1540C>T (p.Gln514Ter)

SNV
Germline

Chr15:48513597

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141327746

1 SubmittersRCV001382909

NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe)

SNV
Germline

Chr15:48520730

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555400603

1 SubmittersRCV001390510

NM_000138.5(FBN1):c.368G>C (p.Cys123Ser)

SNV
Germline

Chr15:48600213

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_397515794

1 SubmittersRCV001388369

NM_000138.5(FBN1):c.300C>A (p.Cys100Ter)

SNV
Germline

Chr15:48610774

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_397515783

1 SubmittersRCV001383482

NM_000138.5(FBN1):c.127A>T (p.Lys43Ter)

SNV
Germline

Chr15:48644643

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751270801

2 SubmittersRCV001380300 RCV001508395

NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)

SNV
Germline

Chr15:48425783

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141226916

2 SubmittersRCV002551586 RCV001391298

NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)

SNV
Germline

Chr15:48472582

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1243628683

3 SubmittersRCV001403583 RCV002329431 RCV004006895

NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)

SNV
Germline

Chr15:48485481

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758542279

2 SubmittersRCV001395386 RCV001773742

NM_000138.5(FBN1):c.2493A>G (p.Glu831=)

SNV
Germline

Chr15:48495515

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_756410019

3 SubmittersRCV001762670 RCV002432109 RCV001402483

NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)

SNV
Germline

Chr15:48425413

Likely pathogenic

not specified
Abnormality of connective tissue
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Reviewed By Expert Panel

rs_1555394398

4 SubmittersRCV001420801 RCV001814319 RCV001859335 RCV004776304

NM_000138.5(FBN1):c.1297G>T (p.Glu433Ter)

SNV
Germline

Chr15:48516213

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_2141330884

1 SubmittersRCV001420882

NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter)

SNV
Unknown

Chr15:48508602

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_794728176

1 SubmittersRCV001449962

NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)

SNV
Unknown

Chr15:48513642

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2043778680

1 SubmittersRCV001449963

NM_000138.5(FBN1):c.442+8C>T

SNV
Germline

Chr15:48600131

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_771771077

2 SubmittersRCV001464174 RCV003485719

NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)

SNV
Germline

Chr15:48432910

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501054

2 SubmittersRCV001509487 RCV002246022

NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser)

SNV
Germline

Chr15:48465574

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064793115

2 SubmittersRCV001509491 RCV003771559

NM_000138.5(FBN1):c.3337+2T>C

SNV
Germline

Chr15:48488111

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141294575

2 SubmittersRCV001509495 RCV002564294

NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)

SNV
Germline

Chr15:48495123

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_193922193

3 SubmittersRCV001509498 RCV002564295

NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)

SNV
Germline

Chr15:48487078

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_1352765609

5 SubmittersRCV001526123 RCV001873689 RCV002300540 RCV004008890 RCV004528505

NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)

SNV
Germline

Chr15:48505045

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1566913983

4 SubmittersRCV001524026 RCV002506642 RCV003106227 RCV004804209

NM_000138.5(FBN1):c.1995C>A (p.Tyr665Ter)

SNV
Germline

Chr15:48503905

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141315893

1 SubmittersRCV001530200

NM_000138.5(FBN1):c.539-2A>G

SNV
Germline

Chr15:48537810

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141358521

3 SubmittersRCV001532976 RCV002568219 RCV003481120

NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser)

SNV
Germline

Chr15:48505075

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

rs_1478695794

1 SubmittersRCV001533013

NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)

SNV
Germline

Chr15:48515393

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555400373

1 SubmittersRCV001537872

NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)

SNV
Germline

Chr15:48441838

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141245531

3 SubmittersRCV001555551 RCV002032608 RCV002359169

NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg)

SNV
Germline

Chr15:48448882

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395990

3 SubmittersRCV001571331 RCV001866030 RCV004822418

NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn)

SNV
Germline

Chr15:48430736

Pathogenic/Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_193922228

2 SubmittersRCV001587038 RCV003771788

NM_000138.5(FBN1):c.5089A>T (p.Arg1697Ter)

SNV
Germline

Chr15:48463217

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

rs_2141266739

1 SubmittersRCV001582384

NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter)

SNV
Germline

Chr15:48421995

Pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141222456

2 SubmittersRCV001590894 RCV002246023

NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg)

SNV
Germline

Chr15:48510089

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141323348

1 SubmittersRCV001729989

NM_000138.5(FBN1):c.2729-2A>G

SNV
Germline

Chr15:48492588

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_113813525

2 SubmittersRCV001730103 RCV002425031

NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)

SNV
Unknown

Chr15:48437077

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141240523

1 SubmittersRCV001730115

NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)

SNV
Germline

Chr15:48415747

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1280320763

5 SubmittersRCV001733358 RCV002032727 RCV002477908 RCV003163815 RCV004008976

NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)

SNV
Germline

Chr15:48505100

Conflicting classifications of pathogenicity

Condition: not provided
8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_140503215

5 SubmittersRCV001764800 RCV002488525 RCV002538760 RCV004008989 RCV004801043

NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)

SNV
Germline

Chr15:48485374

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_794728208

3 SubmittersRCV001765242 RCV002359232 RCV003771934

NM_000138.5(FBN1):c.3338-1G>C

SNV
Germline

Chr15:48487438

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141293811

2 SubmittersRCV001781096 RCV002034590

NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)

SNV
Germline

Chr15:48470684

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Reviewed By Expert Panel

rs_2043365537

4 SubmittersRCV001799126 RCV002246034 RCV003146240

NM_000138.5(FBN1):c.4943-1G>C

SNV
Germline

Chr15:48464022

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555396863

2 SubmittersRCV002246036 RCV002544282

NM_000138.5(FBN1):c.6379+2T>G

SNV
Germline

Chr15:48437320

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_113453570

2 SubmittersRCV002246048 RCV003772162

NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)

SNV
Germline

Chr15:48437077

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2141240523

2 SubmittersRCV002246051 RCV001799127

NM_000138.5(FBN1):c.6616+1G>T

SNV
Unknown

Chr15:48434593

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1064793980

1 SubmittersRCV002246056

NM_000138.5(FBN1):c.3083-1G>C

SNV
Unknown

Chr15:48488494

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141295345

1 SubmittersRCV002246102

NM_000138.5(FBN1):c.3338-2A>G

SNV
Unknown

Chr15:48487439

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141293812

1 SubmittersRCV002246105

NM_000138.5(FBN1):c.1653C>T (p.Gly551=)

SNV
Germline

Chr15:48510105

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_766565738

4 SubmittersRCV001811748 RCV002542336 RCV004009070 RCV004040889

NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser)

SNV
Germline

Chr15:48445421

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141249174

2 SubmittersRCV001811795 RCV003120696

NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)

SNV
Germline

Chr15:48427656

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_112369155

5 SubmittersRCV001811822 RCV001869468 RCV002361063 RCV004009071

NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)

SNV
Germline

Chr15:48452675

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Conflicting Classifications

rs_2141256116

3 SubmittersRCV001811827 RCV001869469 RCV004536321

NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)

SNV
Germline

Chr15:48596324

Pathogenic/Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_397515818

3 SubmittersRCV001806800 RCV001869498 RCV004796663

NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr)

SNV
Germline

Chr15:48485451

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1057522908

1 SubmittersRCV001806303

NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)

SNV
Germline

Chr15:48468503

Likely pathogenic

Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043341481

2 SubmittersRCV001806334

NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe)

SNV
Germline

Chr15:48448818

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141252159

1 SubmittersRCV001806337

NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn)

SNV
Germline

Chr15:48448768

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_193922216

2 SubmittersRCV001806338 RCV003772255

NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser)

SNV
Germline

Chr15:48444612

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1597531796

1 SubmittersRCV001806339

NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe)

SNV
Germline

Chr15:48444585

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1085307531

1 SubmittersRCV001806340

NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp)

SNV
Germline

Chr15:48420689

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_2141220600

1 SubmittersRCV001806342

NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)

SNV
Germline

Chr15:48488439

Likely pathogenic

Marfan syndrome
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141295239

4 SubmittersRCV001808060 RCV001843963 RCV003772260 RCV004796665

NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)

SNV
Germline

Chr15:48415747

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
7 conditions

Criteria Provided
Conflicting Classifications

rs_1280320763

3 SubmittersRCV002545220 RCV004009167 RCV001839131

NM_000138.5(FBN1):c.5296+13G>A

SNV
Germline

Chr15:48460233

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_781168268

2 SubmittersRCV001844454 RCV002543295

NM_000138.5(FBN1):c.3208+13G>A

SNV
Germline

Chr15:48488355

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_2043527577

2 SubmittersRCV001844455 RCV002543296

NM_000138.5(FBN1):c.5423-5C>T

SNV
Germline

Chr15:48452689

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_368750818

6 SubmittersRCV001847386 RCV002074406 RCV003528340 RCV004009170

NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg)

SNV
Germline

Chr15:48444547

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141248001

1 SubmittersRCV001932367

NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val)

SNV
Germline

Chr15:48456720

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2141260428

2 SubmittersRCV001900876 RCV002343978

NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp)

SNV
Germline

Chr15:48497270

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_181311020

1 SubmittersRCV002004244

NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp)

SNV
Germline

Chr15:48434682

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141237128

1 SubmittersRCV002015083

NM_000138.5(FBN1):c.3083-1G>T

SNV
Germline

Chr15:48488494

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141295345

1 SubmittersRCV002048971

NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser)

SNV
Germline

Chr15:48487404

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141293726

1 SubmittersRCV001979616

NM_000138.5(FBN1):c.4600T>C (p.Cys1534Arg)

SNV
Germline

Chr15:48468085

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141272479

1 SubmittersRCV002013542

NM_000138.5(FBN1):c.3083A>T (p.Asp1028Val)

SNV
Germline

Chr15:48488493

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1131691317

1 SubmittersRCV001984309

NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr)

SNV
Germline

Chr15:48508674

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141321627

1 SubmittersRCV002030926

NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr)

SNV
Germline

Chr15:48596372

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2140711857

1 SubmittersRCV002036623

NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)

SNV
Germline

Chr15:48437872

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501044

2 SubmittersRCV002036675 RCV002352775

NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg)

SNV
Germline

Chr15:48452595

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_397515823

1 SubmittersRCV002015447

NM_000138.5(FBN1):c.1792T>G (p.Cys598Gly)

SNV
Germline

Chr15:48508627

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141321553

1 SubmittersRCV001929510

NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser)

SNV
Germline

Chr15:48425414

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394399

1 SubmittersRCV001960565

NM_000138.5(FBN1):c.1916G>T (p.Cys639Phe)

SNV
Germline

Chr15:48505069

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_878853676

1 SubmittersRCV001894434

NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser)

SNV
Germline

Chr15:48421674

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141221984

1 SubmittersRCV001898152

NM_000138.5(FBN1):c.3349T>C (p.Cys1117Arg)

SNV
Germline

Chr15:48487426

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141293770

1 SubmittersRCV001890903

NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter)

SNV
Germline

Chr15:48499036

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141308933

2 SubmittersRCV001938244 RCV004595638

NM_000138.5(FBN1):c.1850G>C (p.Cys617Ser)

SNV
Germline

Chr15:48505135

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555399836

1 SubmittersRCV001896869

NM_000138.5(FBN1):c.3023G>C (p.Cys1008Ser)

SNV
Germline

Chr15:48489910

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141297152

1 SubmittersRCV001950796

NM_000138.5(FBN1):c.7983T>A (p.Tyr2661Ter)

SNV
Germline

Chr15:48415604

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141214712

1 SubmittersRCV001946734

NM_000138.5(FBN1):c.1882T>C (p.Cys628Arg)

SNV
Germline

Chr15:48505103

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141317350

1 SubmittersRCV001998864

NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser)

SNV
Germline

Chr15:48485425

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141291310

1 SubmittersRCV002002794

NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe)

SNV
Germline

Chr15:48468456

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397204

1 SubmittersRCV001967071

NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter)

SNV
Germline

Chr15:48485382

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141291261

1 SubmittersRCV001893252

NM_000138.5(FBN1):c.4583-9G>A

SNV
Germline

Chr15:48468111

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2043338449

2 SubmittersRCV001982388 RCV003738117

NM_000138.5(FBN1):c.610T>C (p.Cys204Arg)

SNV
Germline

Chr15:48537737

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2044026132

1 SubmittersRCV002010715

NM_000138.5(FBN1):c.6709G>A (p.Val2237Met)

SNV
Germline

Chr15:48432896

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_764218640

2 SubmittersRCV002008515 RCV004804337

NM_000138.5(FBN1):c.2179T>A (p.Cys727Ser)

SNV
Germline

Chr15:48497380

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1064794025

1 SubmittersRCV001927184

NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys)

SNV
Germline

Chr15:48456754

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141260472

1 SubmittersRCV001916691

NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp)

SNV
Germline

Chr15:48448811

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141252143

1 SubmittersRCV002007912

NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser)

SNV
Germline

Chr15:48481769

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043467154

1 SubmittersRCV001882317

NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp)

SNV
Germline

Chr15:48510087

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141323336

1 SubmittersRCV002007819

NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr)

SNV
Germline

Chr15:48425831

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566892915

1 SubmittersRCV001947163

NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)

SNV
Germline

Chr15:48411106

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1284038548

2 SubmittersRCV001914746 RCV004009256

NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser)

SNV
Germline

Chr15:48444649

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141248174

1 SubmittersRCV002015587

NM_000138.5(FBN1):c.7454-1G>T

SNV
Germline

Chr15:48422069

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141222615

2 SubmittersRCV001911246 RCV003223735

NM_000138.5(FBN1):c.1638C>A (p.Cys546Ter)

SNV
Germline

Chr15:48510120

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141323411

1 SubmittersRCV001882166

NM_000138.5(FBN1):c.7742G>C (p.Cys2581Ser)

SNV
Germline

Chr15:48420764

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555394149

1 SubmittersRCV001898380

NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser)

SNV
Germline

Chr15:48470679

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397403

1 SubmittersRCV001867817

NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)

SNV
Germline

Chr15:48430727

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141232534

3 SubmittersRCV001909401 RCV003228020 RCV003485744

NM_000138.5(FBN1):c.4747+5G>A

SNV
Germline

Chr15:48467933

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_193922209

1 SubmittersRCV001909409

NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg)

SNV
Germline

Chr15:48496151

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555399270

1 SubmittersRCV001917042

NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu)

SNV
Germline

Chr15:48468432

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_2141272892

2 SubmittersRCV004804343 RCV002045532

NM_000138.5(FBN1):c.386G>T (p.Cys129Phe)

SNV
Germline

Chr15:48600195

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566935517

1 SubmittersRCV002007277

NM_000138.5(FBN1):c.511G>T (p.Gly171Ter)

SNV
Germline

Chr15:48596310

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1566934693

1 SubmittersRCV002007345

NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter)

SNV
Germline

Chr15:48444544

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141247988

1 SubmittersRCV002000143

NM_000138.5(FBN1):c.6616+2T>C

SNV
Germline

Chr15:48434592

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141236949

1 SubmittersRCV002002411

NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys)

SNV
Germline

Chr15:48495238

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555399164

1 SubmittersRCV001994010

NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser)

SNV
Germline

Chr15:48499021

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555399481

1 SubmittersRCV002022202

NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)

SNV
Germline

Chr15:48474344

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141279835

3 SubmittersRCV002007163 RCV002492115 RCV004598165

NM_000138.5(FBN1):c.3464-1G>A

SNV
Germline

Chr15:48487201

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141293336

1 SubmittersRCV001993165

NM_000138.5(FBN1):c.2687G>A (p.Cys896Tyr)

SNV
Germline

Chr15:48494245

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141302442

1 SubmittersRCV001993169

NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter)

SNV
Germline

Chr15:48415675

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141214889

2 SubmittersRCV001993187 RCV002423130

NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn)

SNV
Germline

Chr15:48411276

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_1555393556

2 SubmittersRCV001893534 RCV002554293

NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser)

SNV
Germline

Chr15:48415633

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555393858

1 SubmittersRCV001994649

NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp)

SNV
Germline

Chr15:48432942

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141235147

1 SubmittersRCV002000081

NM_000138.5(FBN1):c.3712+1G>T

SNV
Germline

Chr15:48485373

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_794728209

1 SubmittersRCV002000108

NM_000138.5(FBN1):c.4748-2A>G

SNV
Germline

Chr15:48465860

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141270032

1 SubmittersRCV001985896

NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly)

SNV
Germline

Chr15:48487200

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141293332

1 SubmittersRCV001985982

NM_000138.5(FBN1):c.6997+5G>A

SNV
Germline

Chr15:48428341

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2042997205

2 SubmittersRCV001962757 RCV003146388

NM_000138.5(FBN1):c.502T>A (p.Cys168Ser)

SNV
Germline

Chr15:48596319

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2044515247

1 SubmittersRCV002007588

NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser)

SNV
Germline

Chr15:48495141

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141303537

1 SubmittersRCV001994510

NM_000138.5(FBN1):c.8051+1G>A

SNV
Germline

Chr15:48415535

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141214507

1 SubmittersRCV001991005

NM_000138.5(FBN1):c.6740-2A>G

SNV
Germline

Chr15:48430804

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141232714

1 SubmittersRCV001911297

NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter)

SNV
Germline

Chr15:48432930

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1260533788

1 SubmittersRCV001872876

NM_000138.5(FBN1):c.1621T>G (p.Cys541Gly)

SNV
Germline

Chr15:48510137

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_111396594

1 SubmittersRCV001918038

NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg)

SNV
Germline

Chr15:48483932

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141289747

1 SubmittersRCV001939578

NM_000138.5(FBN1):c.6698C>A (p.Pro2233His)

SNV
Germline

Chr15:48432907

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566894783

1 SubmittersRCV002000689

NM_000138.5(FBN1):c.2176G>C (p.Glu726Gln)

SNV
Germline

Chr15:48497383

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141306581

1 SubmittersRCV001959385

NM_000138.5(FBN1):c.247+9A>G

SNV
Germline

Chr15:48613001

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1298547542

2 SubmittersRCV001899573 RCV004699518

NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser)

SNV
Germline

Chr15:48445454

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1131691938

1 SubmittersRCV002002520

NM_000138.5(FBN1):c.7988G>T (p.Cys2663Phe)

SNV
Germline

Chr15:48415599

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597509631

1 SubmittersRCV001939335

NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter)

SNV
Germline

Chr15:48489970

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2043543553

3 SubmittersRCV001941571 RCV002225952 RCV004804324

NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser)

SNV
Germline

Chr15:48472556

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_886038940

1 SubmittersRCV001960512

NM_000138.5(FBN1):c.1147+2T>A

SNV
Germline

Chr15:48520657

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141335915

1 SubmittersRCV002022269

NM_000138.5(FBN1):c.6314-2A>C

SNV
Germline

Chr15:48437389

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141240964

1 SubmittersRCV001879301

NM_000138.5(FBN1):c.3661T>C (p.Cys1221Arg)

SNV
Germline

Chr15:48485425

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141291310

1 SubmittersRCV001951042

NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg)

SNV
Germline

Chr15:48470712

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141275778

1 SubmittersRCV001946859

NM_000138.5(FBN1):c.4336+1G>T

SNV
Germline

Chr15:48472550

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141277821

1 SubmittersRCV001972363

NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)

SNV
Germline

Chr15:48446741

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_993464239

4 SubmittersRCV002016704 RCV002346293 RCV002486696 RCV004011136

NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly)

SNV
Germline

Chr15:48436967

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141240296

2 SubmittersRCV001986903 RCV004538721

NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly)

SNV
Germline

Chr15:48487081

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141293091

1 SubmittersRCV002036278

NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter)

SNV
Germline

Chr15:48465685

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141269766

1 SubmittersRCV001925745

NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe)

SNV
Germline

Chr15:48474572

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555397720

1 SubmittersRCV001945019

NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter)

SNV
Germline

Chr15:48437330

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1190410675

1 SubmittersRCV001879414

NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp)

SNV
Germline

Chr15:48495172

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_112085967

1 SubmittersRCV001956391

NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg)

SNV
Germline

Chr15:48492467

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141300266

1 SubmittersRCV001949528

NM_000138.5(FBN1):c.2167+1G>A

SNV
Germline

Chr15:48498984

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141308781

1 SubmittersRCV001956420

NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)

SNV
Germline

Chr15:48446777

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_774798866

4 SubmittersRCV002001143 RCV002497966 RCV004011064 RCV003528348

NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly)

SNV
Germline

Chr15:48446754

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141250333

1 SubmittersRCV002026371

NM_000138.5(FBN1):c.3082+1G>A

SNV
Germline

Chr15:48489850

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_886038996

1 SubmittersRCV001949357

NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg)

SNV
Germline

Chr15:48437033

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555395203

1 SubmittersRCV001956126

NM_000138.5(FBN1):c.4336+1G>A

SNV
Germline

Chr15:48472550

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141277821

1 SubmittersRCV001956135

NM_000138.5(FBN1):c.1744T>C (p.Cys582Arg)

SNV
Germline

Chr15:48508675

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141321636

1 SubmittersRCV001956154

NM_000138.5(FBN1):c.2855-2A>G

SNV
Germline

Chr15:48490080

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141297577

2 SubmittersRCV003329122 RCV002030477

NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly)

SNV
Germline

Chr15:48485380

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398380

1 SubmittersRCV002039454

NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp)

SNV
Germline

Chr15:48421989

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_750331217

2 SubmittersRCV001945391 RCV002388828

NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)

SNV
Germline

Chr15:48520799

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141336245

1 SubmittersRCV001961632

NM_000138.5(FBN1):c.2729-1G>A

SNV
Germline

Chr15:48492587

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1487002781

1 SubmittersRCV001947011

NM_000138.5(FBN1):c.175T>C (p.Cys59Arg)

SNV
Germline

Chr15:48613082

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2140737589

1 SubmittersRCV001963233

NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln)

SNV
Germline

Chr15:48421678

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141222003

1 SubmittersRCV002047229

NM_000138.5(FBN1):c.3204C>A (p.Cys1068Ter)

SNV
Germline

Chr15:48488372

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_886038248

1 SubmittersRCV001963078

NM_000138.5(FBN1):c.1788T>A (p.Cys596Ter)

SNV
Germline

Chr15:48508631

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141321569

1 SubmittersRCV001963117

NM_000138.5(FBN1):c.3616G>T (p.Gly1206Cys)

SNV
Germline

Chr15:48485470

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398411

1 SubmittersRCV001982886

NM_000138.5(FBN1):c.2088C>A (p.Cys696Ter)

SNV
Germline

Chr15:48503812

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141315709

1 SubmittersRCV001963160

NM_000138.5(FBN1):c.3713-1G>T

SNV
Germline

Chr15:48483944

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141289776

1 SubmittersRCV002006377

NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro)

SNV
Germline

Chr15:48463124

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_387906624

1 SubmittersRCV001967543

NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter)

SNV
Germline

Chr15:48526185

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141343382

1 SubmittersRCV001975038

NM_000138.5(FBN1):c.1786T>C (p.Cys596Arg)

SNV
Germline

Chr15:48508633

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1057520131

1 SubmittersRCV001958689

NM_000138.5(FBN1):c.1709G>C (p.Cys570Ser)

SNV
Germline

Chr15:48510049

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555400049

1 SubmittersRCV001975072

NM_000138.5(FBN1):c.1630G>C (p.Gly544Arg)

SNV
Germline

Chr15:48510128

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555400063

1 SubmittersRCV001975073

NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp)

SNV
Germline

Chr15:48510093

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_531101773

1 SubmittersRCV002026564

NM_000138.5(FBN1):c.3794G>T (p.Cys1265Phe)

SNV
Germline

Chr15:48483862

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1555398279

1 SubmittersRCV001906807

NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg)

SNV
Germline

Chr15:48487126

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141293199

1 SubmittersRCV001951501

NM_000138.5(FBN1):c.1468+1G>A

SNV
Germline

Chr15:48515386

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141329822

1 SubmittersRCV001951513

NM_000138.5(FBN1):c.4747+1G>A

SNV
Germline

Chr15:48467937

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141272220

1 SubmittersRCV001978349

NM_000138.5(FBN1):c.1588+1G>A

SNV
Germline

Chr15:48513548

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141327634

1 SubmittersRCV002026867

NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter)

SNV
Germline

Chr15:48437882

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1342803259

1 SubmittersRCV001909652

NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)

SNV
Germline

Chr15:48415707

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1555393875

2 SubmittersRCV002040854 RCV002407309

NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp)

SNV
Germline

Chr15:48488179

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141294717

1 SubmittersRCV002042650

NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)

SNV
Germline

Chr15:48425838

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_775558051

6 SubmittersRCV002045214 RCV004809725 RCV002509741 RCV003150477 RCV004011115

NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)

SNV
Germline

Chr15:48613058

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Reviewed By Expert Panel

rs_2140737496

3 SubmittersRCV001917113 RCV002422956 RCV003476886

NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp)

SNV
Germline

Chr15:48472555

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141277826

1 SubmittersRCV001886257

NM_000138.5(FBN1):c.2584T>A (p.Cys862Ser)

SNV
Germline

Chr15:48495216

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2043595650

1 SubmittersRCV001866986

NM_000138.5(FBN1):c.211T>G (p.Trp71Gly)

SNV
Germline

Chr15:48613046

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1555405658

1 SubmittersRCV001963595

NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe)

SNV
Germline

Chr15:48441813

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_1597529826

1 SubmittersRCV001986055

NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val)

SNV
Germline

Chr15:48437071

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_1566896114

1 SubmittersRCV002021369

NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser)

SNV
Germline

Chr15:48437831

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141241499

1 SubmittersRCV002021385

NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp)

SNV
Germline

Chr15:48411258

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141209965

1 SubmittersRCV002021456

NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)

SNV
Germline

Chr15:48508582

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555399943

2 SubmittersRCV001866752 RCV002406932

NM_000138.5(FBN1):c.4471T>C (p.Cys1491Arg)

SNV
Germline

Chr15:48468523

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

rs_2141273081

1 SubmittersRCV001928027

NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro)

SNV
Germline

Chr15:48415575

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141214610

1 SubmittersRCV001963568

NM_000138.5(FBN1):c.6617-1G>C

SNV
Germline

Chr15:48432989

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

rs_2141235271

1 SubmittersRCV002038421

NM_000138.5(FBN1):c.2354C>A (p.Pro785His)

SNV
Germline

Chr15:48496165

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_956678986

1 SubmittersRCV002052293

NM_000138.5(FBN1):c.2729-8C>A

SNV
Germline

Chr15:48492594

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_775257418

2 SubmittersRCV002218381 RCV004005302

NM_000138.5(FBN1):c.2294-14C>G

SNV
Germline

Chr15:48496239

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_201446948

3 SubmittersRCV002198269 RCV003528355 RCV004005520

NM_000138.5(FBN1):c.6314-16A>G

SNV
Germline

Chr15:48437403

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_759468929

2 SubmittersRCV002162579 RCV003235677

NM_000138.5(FBN1):c.69T>C (p.His23=)

SNV
Germline

Chr15:48644701

Conflicting classifications of pathogenicity

8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_2140787712

2 SubmittersRCV002208741 RCV003089102

NM_000138.5(FBN1):c.6164-5T>C

SNV
Germline

Chr15:48437922

Conflicting classifications of pathogenicity

8 conditions
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

rs_2043085940

3 SubmittersRCV002204526 RCV003101218 RCV004005527

NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)

SNV
Germline

Chr15:48430770

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057520617

5 SubmittersRCV002236396 RCV003774684 RCV002363726 RCV004719242

NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg)

SNV
Germline

Chr15:48487405

Conflicting classifications of pathogenicity

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_2141293730

3 SubmittersRCV002244264 RCV004779269 RCV004823019

NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)

SNV
Germline

Chr15:48432976

Pathogenic/Likely pathogenic

Acromicric dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141235242

5 SubmittersRCV002249985 RCV002272576 RCV002363729 RCV003774716 RCV004017910

NM_000138.5(FBN1):c.1714+2T>C

SNV
Germline

Chr15:48510042

Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141323212

2 SubmittersRCV002250937 RCV003094075

NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr)

SNV
Germline

Chr15:48492574

Pathogenic/Likely pathogenic

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141300503

2 SubmittersRCV002251005 RCV003774732

NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr)

SNV
Germline

Chr15:48610769

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_794728292

1 SubmittersRCV002251698

NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser)

SNV
Unknown

Chr15:48425817

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_1555394441

1 SubmittersRCV002254888

NM_000138.5(FBN1):c.2113+17A>G

SNV
Germline

Chr15:48503770

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1246446564

2 SubmittersRCV002266238 RCV003096013

NM_000138.5(FBN1):c.284C>A (p.Ser95Ter)

SNV
Germline

Chr15:48610790

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

rs_922684362

1 SubmittersRCV002272603

NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)

SNV
Germline

Chr15:48492586

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1284769637

2 SubmittersRCV002272719 RCV003096134

NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)

SNV
Germline

Chr15:48467949

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_772009116

2 SubmittersRCV002273581 RCV003774871

NM_000138.5(FBN1):c.5021G>C (p.Cys1674Ser)

SNV
Germline

Chr15:48463943

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

1 SubmittersRCV002281860

NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)

SNV
Germline

Chr15:48463904

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002287223 RCV002290864 RCV003774951

NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)

SNV
Germline

Chr15:48437873

Likely pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002293773 RCV003774981

NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)

SNV
Germline

Chr15:48446753

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002294598 RCV002346577

NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)

SNV
Germline

Chr15:48425742

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002302446 RCV003098015 RCV003528366 RCV004005610

NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)

SNV
Germline

Chr15:48445504

Conflicting classifications of pathogenicity

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002306195 RCV003099100

NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)

SNV
Germline

Chr15:48483823

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002355413 RCV004017925

NM_000138.5(FBN1):c.3838+2T>C

SNV
Germline

Chr15:48483816

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002364044 RCV004005642

NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)

SNV
Germline

Chr15:48452655

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002349674 RCV003235709

NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)

SNV
Germline

Chr15:48465646

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002340368 RCV003102646 RCV004700730

NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)

SNV
Germline

Chr15:48441764

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002360283 RCV003098147

NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)

SNV
Germline

Chr15:48437008

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002361821 RCV003103300 RCV003443042

NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)

SNV
Germline

Chr15:48468457

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002340074 RCV003775914

NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)

SNV
Germline

Chr15:48412697

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002419456 RCV003481294 RCV003776479 RCV004005765

NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)

SNV
Germline

Chr15:48515427

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002391975 RCV003774325

NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)

SNV
Germline

Chr15:48495519

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002430902 RCV003101879

NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser)

SNV
Germline

Chr15:48492529

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002441358 RCV004007448

NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)

SNV
Germline

Chr15:48489869

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002444259 RCV004017938

NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)

SNV
Germline

Chr15:48510121

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002468916 RCV003775500

NM_000138.5(FBN1):c.2800A>T (p.Lys934Ter)

SNV
Germline

Chr15:48492515

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

1 SubmittersRCV002469947

NM_000138.5(FBN1):c.2294-1G>C

SNV
Germline

Chr15:48496226

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002470429

NM_000138.5(FBN1):c.8052-2A>G

SNV
Germline

Chr15:48412745

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058465

NM_000138.5(FBN1):c.6739+1G>T

SNV
Germline

Chr15:48432865

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058466

NM_000138.5(FBN1):c.6661T>G (p.Cys2221Gly)

SNV
Germline

Chr15:48432944

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058467

NM_000138.5(FBN1):c.6451T>C (p.Cys2151Arg)

SNV
Germline

Chr15:48437006

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041230

NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)

SNV
Germline

Chr15:48437784

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003064262 RCV003319537

NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter)

SNV
Germline

Chr15:48445457

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064263

NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val)

SNV
Germline

Chr15:48446765

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003064265 RCV004698433

NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter)

SNV
Germline

Chr15:48448783

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064266

NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)

SNV
Germline

Chr15:48452574

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058468

NM_000138.5(FBN1):c.5296+1G>A

SNV
Germline

Chr15:48460245

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064267

NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg)

SNV
Germline

Chr15:48460300

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058469

NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr)

SNV
Germline

Chr15:48463189

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041231

NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr)

SNV
Germline

Chr15:48463222

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041232

NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr)

SNV
Germline

Chr15:48468522

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064269

NM_000138.5(FBN1):c.4459+1G>A

SNV
Germline

Chr15:48470633

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064270

NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg)

SNV
Germline

Chr15:48474639

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041233

NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)

SNV
Germline

Chr15:48481699

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058470

NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)

SNV
Germline

Chr15:48483862

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003064271 RCV003327304 RCV004823089

NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter)

SNV
Germline

Chr15:48490047

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041234

NM_000138.5(FBN1):c.2854+1G>A

SNV
Germline

Chr15:48492460

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041235

NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser)

SNV
Germline

Chr15:48495140

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058471

NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly)

SNV
Germline

Chr15:48496151

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064274

NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr)

SNV
Germline

Chr15:48499020

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058473

NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)

SNV
Germline

Chr15:48505025

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064276

NM_000138.5(FBN1):c.1468+1G>C

SNV
Germline

Chr15:48515386

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064278

NM_000138.5(FBN1):c.6994C>T (p.Leu2332Phe)

SNV
Germline

Chr15:48428349

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003056694 RCV004804547

NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)

SNV
Germline

Chr15:48412722

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068284 RCV004009330

NM_000138.5(FBN1):c.989-8G>A

SNV
Germline

Chr15:48520825

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003077886 RCV004009378 RCV004783006

NM_000138.5(FBN1):c.989-10T>A

SNV
Germline

Chr15:48520827

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003077887 RCV004009379 RCV004783007

NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)

SNV
Germline

Chr15:48412706

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003067640 RCV004804550

NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp)

SNV
Germline

Chr15:48448880

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003079192

NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg)

SNV
Germline

Chr15:48495514

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003074978

NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)

SNV
Germline

Chr15:48497337

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003079194

NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)

SNV
Germline

Chr15:48520709

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003061614

NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)

SNV
Germline

Chr15:48537631

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003082967 RCV003161825 RCV004009420

NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)

SNV
Germline

Chr15:48495126

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003080665 RCV003528426

NM_000138.5(FBN1):c.3209-13T>C

SNV
Germline

Chr15:48488254

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002510440 RCV003775565

NM_000138.5(FBN1):c.2114-1G>A

SNV
Germline

Chr15:48499039

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003112311

NM_000138.5(FBN1):c.213G>A (p.Trp71Ter)

SNV
Germline

Chr15:48613044

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003112313

NM_000138.5(FBN1):c.5225-10A>T

SNV
Germline

Chr15:48460327

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

5 SubmittersRCV002640064 RCV004526205 RCV003528409 RCV004007534 RCV004545366

NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)

SNV
Germline

Chr15:48481726

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002825356

NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)

SNV
Germline

Chr15:48434683

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002815715

NM_000138.5(FBN1):c.1482T>G (p.Cys494Trp)

SNV
Germline

Chr15:48513655

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002801799

NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)

SNV
Germline

Chr15:48434599

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002823954 RCV004786749

NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp)

SNV
Germline

Chr15:48448772

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002833043

NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser)

SNV
Germline

Chr15:48427680

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002828876

NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)

SNV
Germline

Chr15:48411364

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002835219

NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter)

SNV
Germline

Chr15:48434682

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002870870

NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter)

SNV
Germline

Chr15:48503895

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002839165

NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)

SNV
Germline

Chr15:48448768

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002839189

NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter)

SNV
Germline

Chr15:48432887

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002846200

NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)

SNV
Germline

Chr15:48492512

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002843964

NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter)

SNV
Germline

Chr15:48434634

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002843490

NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly)

SNV
Germline

Chr15:48437033

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002852758

NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)

SNV
Germline

Chr15:48422059

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002863758

NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr)

SNV
Germline

Chr15:48463970

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002880925

NM_000138.5(FBN1):c.6180C>A (p.Tyr2060Ter)

SNV
Germline

Chr15:48437901

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002876520

NM_000138.5(FBN1):c.6740-1G>C

SNV
Germline

Chr15:48430803

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002880439

NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)

SNV
Germline

Chr15:48487200

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002876750

NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)

SNV
Germline

Chr15:48488118

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002862590

NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)

SNV
Germline

Chr15:48596360

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002863472

NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter)

SNV
Germline

Chr15:48474364

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002894238

NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter)

SNV
Germline

Chr15:48510161

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002894867

NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp)

SNV
Germline

Chr15:48508658

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002867638

NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter)

SNV
Germline

Chr15:48420792

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002867844

NM_000138.5(FBN1):c.4583-2A>G

SNV
Germline

Chr15:48468104

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002903826

NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly)

SNV
Germline

Chr15:48508675

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002872674

NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter)

SNV
Germline

Chr15:48497270

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002889899

NM_000138.5(FBN1):c.1468+1G>T

SNV
Germline

Chr15:48515386

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002913049

NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter)

SNV
Germline

Chr15:48487166

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002949371

NM_000138.5(FBN1):c.4817-14T>G

SNV
Germline

Chr15:48465707

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Marfan syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002957988 RCV003331406 RCV004007716

NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)

SNV
Germline

Chr15:48485462

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV002962128

NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)

SNV
Germline

Chr15:48427596

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002995144 RCV004007745

NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)

SNV
Germline

Chr15:48488474

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002972545 RCV003324861

NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr)

SNV
Germline

Chr15:48495561

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003021349

NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr)

SNV
Germline

Chr15:48483823

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003019324

NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)

SNV
Germline

Chr15:48600174

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003031154 RCV004796753

NM_000138.5(FBN1):c.2273C>G (p.Ser758Ter)

SNV
Germline

Chr15:48497286

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003033532

NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro)

SNV
Germline

Chr15:48495164

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003009960

NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)

SNV
Germline

Chr15:48434595

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003013582 RCV004725455

NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)

SNV
Germline

Chr15:48526175

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003012208

NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser)

SNV
Germline

Chr15:48441727

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003046069

NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter)

SNV
Germline

Chr15:48485389

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003023892

NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)

SNV
Germline

Chr15:48411164

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003022320

NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)

SNV
Germline

Chr15:48427587

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003042639

NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter)

SNV
Germline

Chr15:48421579

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003043722

NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr)

SNV
Germline

Chr15:48483910

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003030478

NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)

SNV
Germline

Chr15:48489990

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003035397

NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)

SNV
Germline

Chr15:48474528

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003049031

NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp)

SNV
Germline

Chr15:48460298

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003047162

NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)

SNV
Germline

Chr15:48412738

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003054941

NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)

SNV
Germline

Chr15:48425483

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003047953

NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)

SNV
Germline

Chr15:48468096

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003048412

NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)

SNV
Germline

Chr15:48434705

Likely pathogenic

Marfan syndrome

Reviewed By Expert Panel

1 SubmittersRCV003110178

NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter)

SNV
Germline

Chr15:48472632

Pathogenic

Marfan syndrome

Reviewed By Expert Panel

1 SubmittersRCV003110179

NM_000138.5(FBN1):c.6497-1G>A

SNV
Germline

Chr15:48434714

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003142357

NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)

SNV
Germline

Chr15:48613075

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003187815 RCV003779584

NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)

SNV
Germline

Chr15:48411201

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003329129

NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)

SNV
Germline

Chr15:48472676

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003329132

NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)

SNV
Germline

Chr15:48474530

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003329133

NM_000138.5(FBN1):c.7699+2T>C

SNV
Germline

Chr15:48421556

Pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003329135

NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)

SNV
Germline

Chr15:48422026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003226640 RCV003779808 RCV004009680 RCV004721167

NM_000138.5(FBN1):c.7833C>A (p.Cys2611Ter)

SNV
Germline

Chr15:48415754

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

1 SubmittersRCV003226641

NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)

SNV
Germline

Chr15:48481655

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003228487 RCV004556867

NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)

SNV
Germline

Chr15:48489969

Pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003231696 RCV003779847

NM_000138.5(FBN1):c.657C>G (p.His219Gln)

SNV
Germline

Chr15:48537690

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003319246 RCV004804595

NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)

SNV
Germline

Chr15:48421982

Pathogenic

Marfan syndrome

Reviewed By Expert Panel

1 SubmittersRCV003236249

NM_000138.5(FBN1):c.863-2A>G

SNV
Germline

Chr15:48526257

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003779859 RCV003236372

NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)

SNV
Germline

Chr15:48460281

Likely pathogenic

Weill-Marchesani syndrome 2, dominant
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003307350 RCV003777270

NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)

SNV
Germline

Chr15:48487317

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003313007

NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)

SNV
Germline

Chr15:48488461

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003314514

NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)

SNV
Germline

Chr15:48489926

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003485918

NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)

SNV
Germline

Chr15:48460275

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003485920

NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)

SNV
Germline

Chr15:48437361

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003485921

NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)

SNV
Germline

Chr15:48464009

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003330176

NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)

SNV
Germline

Chr15:48485483

Pathogenic

Marfan syndrome

Reviewed By Expert Panel

1 SubmittersRCV003330278

NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)

SNV
Germline

Chr15:48444653

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003335825

NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)

SNV
Germline

Chr15:48425416

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003339222 RCV003777501

NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr)

SNV
Germline

Chr15:48495242

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003388278

NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)

SNV
Germline

Chr15:48425375

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV003389133

NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)

SNV
Germline

Chr15:48483930

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003405208

NM_000138.5(FBN1):c.1589-1217G>T

SNV
Germline

Chr15:48511386

Pathogenic/Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003445421 RCV005001380

NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)

SNV
Germline

Chr5:128335176

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003525414 RCV003447703

NM_000138.5(FBN1):c.2294-2A>G

SNV
Germline

Chr15:48496227

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003448936

NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)

SNV
Germline

Chr15:48434647

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003454387

NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)

SNV
Germline

Chr15:48513553

Pathogenic

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003480491 RCV003779218

NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)

SNV
Germline

Chr15:48490049

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003528051 RCV004011455 RCV003779306

NM_000138.5(FBN1):c.989-6C>A

SNV
Germline

Chr15:48520823

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003528076 RCV004804641

NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)

SNV
Germline

Chr15:48468418

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003736447 RCV003779376

NM_000138.5(FBN1):c.5296+2T>G

SNV
Germline

Chr15:48460244

Pathogenic/Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003740583 RCV003779381

NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)

SNV
Germline

Chr15:48494245

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003785405

NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)

SNV
Germline

Chr15:48487432

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003785652

NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)

SNV
Germline

Chr15:48448884

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003785654

NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)

SNV
Germline

Chr15:48412592

Conflicting classifications of pathogenicity

Marfan syndrome
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004005946 RCV003785969

NM_000138.5(FBN1):c.3839-15A>C

SNV
Germline

Chr15:48481795

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003784240 RCV004005972

NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr)

SNV
Germline

Chr15:48481705

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003781846

NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp)

SNV
Germline

Chr15:48488151

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003781847

NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)

SNV
Germline

Chr15:48600187

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
FBN1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003781900 RCV004005984 RCV004736660

NM_000138.5(FBN1):c.5225-2A>G

SNV
Germline

Chr15:48460319

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003797894

NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)

SNV
Germline

Chr15:48485470

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003782773

NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)

SNV
Germline

Chr15:48520734

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003782998

NM_000138.5(FBN1):c.306C>G (p.Cys102Trp)

SNV
Germline

Chr15:48610768

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003783025

NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)

SNV
Germline

Chr15:48446796

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003785318

NM_000138.5(FBN1):c.7526G>A (p.Cys2509Tyr)

SNV
Germline

Chr15:48421996

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783625

NM_000138.5(FBN1):c.7331-2A>G

SNV
Germline

Chr15:48425493

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783626

NM_000138.5(FBN1):c.7330+1G>T

SNV
Germline

Chr15:48425738

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783627

NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg)

SNV
Germline

Chr15:48428424

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783628

NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter)

SNV
Germline

Chr15:48430752

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783630

NM_000138.5(FBN1):c.6617-1G>T

SNV
Germline

Chr15:48432989

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783631

NM_000138.5(FBN1):c.6164-1G>T

SNV
Germline

Chr15:48437918

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783633

NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter)

SNV
Germline

Chr15:48444647

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783634

NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr)

SNV
Germline

Chr15:48446810

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783637

NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg)

SNV
Germline

Chr15:48448861

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783638

NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)

SNV
Germline

Chr15:48452655

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783640

NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu)

SNV
Germline

Chr15:48456720

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783641

NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg)

SNV
Germline

Chr15:48456721

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701829 RCV003783643

NM_000138.5(FBN1):c.5159G>A (p.Cys1720Tyr)

SNV
Germline

Chr15:48463147

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783644

NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)

SNV
Germline

Chr15:48465613

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783646

NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)

SNV
Germline

Chr15:48468417

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783647

NM_000138.5(FBN1):c.4460-1G>T

SNV
Germline

Chr15:48468535

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783649

NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)

SNV
Germline

Chr15:48474304

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783650

NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)

SNV
Germline

Chr15:48474326

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783651

NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser)

SNV
Germline

Chr15:48481691

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783652

NM_000138.5(FBN1):c.3464-6C>A

SNV
Germline

Chr15:48487206

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783655

NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter)

SNV
Germline

Chr15:48489953

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783658

NM_000138.5(FBN1):c.2677+1G>A

SNV
Germline

Chr15:48495122

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
FBN1-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV003783659 RCV004723467

NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg)

SNV
Germline

Chr15:48495577

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783661

NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp)

SNV
Germline

Chr15:48496176

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783662

NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)

SNV
Germline

Chr15:48496178

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783663

NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)

SNV
Germline

Chr15:48497382

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003783664 RCV004697312

NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly)

SNV
Germline

Chr15:48510158

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783666

NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg)

SNV
Germline

Chr15:48513642

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783669

NM_000138.5(FBN1):c.651G>A (p.Trp217Ter)

SNV
Germline

Chr15:48537696

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003783673 RCV004697313 RCV004594711

NM_000138.5(FBN1):c.478T>G (p.Cys160Gly)

SNV
Germline

Chr15:48596343

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783674

NM_000138.5(FBN1):c.415G>T (p.Gly139Ter)

SNV
Germline

Chr15:48600166

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783675

NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)

SNV
Germline

Chr15:48600174

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003783676 RCV004796844

NM_000138.5(FBN1):c.331T>C (p.Cys111Arg)

SNV
Germline

Chr15:48610743

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783678

NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr)

SNV
Germline

Chr15:48610793

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783679

NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)

SNV
Germline

Chr15:48610820

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783680

NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)

SNV
Germline

Chr15:48463904

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003781408

NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg)

SNV
Germline

Chr15:48508627

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003781409

NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)

SNV
Germline

Chr15:48520677

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003781410 RCV004621901

NM_000138.5(FBN1):c.7204+3A>T

SNV
Germline

Chr15:48427564

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003795744

NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter)

SNV
Germline

Chr15:48492520

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003779397

NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)

SNV
Germline

Chr15:48596360

Likely pathogenic

Condition: not provided
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004697311 RCV003779426

NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)

SNV
Germline

Chr15:48487159

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003779427

NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)

SNV
Germline

Chr15:48444626

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003779444

NM_000138.5(FBN1):c.479G>C (p.Cys160Ser)

SNV
Germline

Chr15:48596342

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003780142

NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter)

SNV
Germline

Chr15:48448876

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003782686

NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)

SNV
Germline

Chr15:48485488

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003782728

NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)

SNV
Germline

Chr15:48430703

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003787532 RCV004790611

NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe)

SNV
Germline

Chr15:48446780

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003792875

NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)

SNV
Germline

Chr15:48508687

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003793040 RCV004006008

NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)

SNV
Germline

Chr15:48412573

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003790281 RCV004805081

NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile)

SNV
Germline

Chr15:48468445

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003786833

NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)

SNV
Germline

Chr15:48411313

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003793745 RCV004006032

NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)

SNV
Germline

Chr15:48437893

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003793997 RCV004006034

NM_000138.5(FBN1):c.6617-2A>G

SNV
Germline

Chr15:48432990

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003792273

NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly)

SNV
Germline

Chr15:48421675

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003792525

NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys)

SNV
Germline

Chr15:48497388

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003792540

NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)

SNV
Germline

Chr15:48421635

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003807869

NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)

SNV
Germline

Chr15:48421654

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003808070

NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe)

SNV
Germline

Chr15:48415722

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003808130

NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter)

SNV
Germline

Chr15:48468488

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003808165

NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe)

SNV
Germline

Chr15:48499020

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003806120

NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro)

SNV
Germline

Chr15:48444642

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003806186 RCV004759309

NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)

SNV
Germline

Chr15:48485469

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003808277

NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)

SNV
Germline

Chr15:48483935

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003806568

NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)

SNV
Germline

Chr15:48460281

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003806690 RCV004775506

NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)

SNV
Germline

Chr15:48444619

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003806725

NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)

SNV
Germline

Chr15:48434642

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003804511

NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter)

SNV
Germline

Chr15:48508597

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003806813

NM_000138.5(FBN1):c.4943-15C>A

SNV
Germline

Chr15:48464036

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003791418 RCV004006044

NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser)

SNV
Germline

Chr15:48430769

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003799815

NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)

SNV
Germline

Chr15:48505139

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003800029

NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp)

SNV
Germline

Chr15:48463146

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003805561

NM_000138.5(FBN1):c.34G>T (p.Gly12Ter)

SNV
Germline

Chr15:48644736

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003805603

NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)

SNV
Germline

Chr15:48495161

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003805641

NM_000138.5(FBN1):c.1589-1G>C

SNV
Germline

Chr15:48510170

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003805964

NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)

SNV
Germline

Chr15:48520749

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003803863 RCV004006060

NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser)

SNV
Germline

Chr15:48488446

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003801562

NM_000138.5(FBN1):c.4211-2A>G

SNV
Germline

Chr15:48472678

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003797198

NM_000138.5(FBN1):c.7331-1G>A

SNV
Germline

Chr15:48425492

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003799341

NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)

SNV
Germline

Chr15:48432911

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003799661

NM_000138.5(FBN1):c.3713-2A>C

SNV
Germline

Chr15:48483945

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003802858

NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter)

SNV
Germline

Chr15:48441733

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003803022

NM_000138.5(FBN1):c.3964+2T>C

SNV
Germline

Chr15:48481653

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003805318

NM_000138.5(FBN1):c.3082+2T>C

SNV
Germline

Chr15:48489849

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003805340

NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)

SNV
Germline

Chr15:48481691

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003803267

NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)

SNV
Germline

Chr15:48497336

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003803307 RCV004594712

NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)

SNV
Germline

Chr15:48430677

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003800945

NM_000138.5(FBN1):c.819C>A (p.Cys273Ter)

SNV
Germline

Chr15:48534123

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003801065

NM_000138.5(FBN1):c.5434T>A (p.Cys1812Ser)

SNV
Germline

Chr15:48452673

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003803628

NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter)

SNV
Germline

Chr15:48492465

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003795176

NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg)

SNV
Germline

Chr15:48421564

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003795239

NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg)

SNV
Germline

Chr15:48513657

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003802697

NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter)

SNV
Germline

Chr15:48465795

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003800227

NM_000138.5(FBN1):c.6998-1G>A

SNV
Germline

Chr15:48427774

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003800279

NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)

SNV
Germline

Chr15:48534194

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003808630

NM_000138.5(FBN1):c.2049C>G (p.Cys683Trp)

SNV
Germline

Chr15:48503851

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003809002

NM_000138.5(FBN1):c.3218A>G (p.Glu1073Gly)

SNV
Germline

Chr15:48488232

Pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003809019

NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)

SNV
Germline

Chr15:48434705

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003809216

NM_000138.5(FBN1):c.4088-2A>G

SNV
Germline

Chr15:48474379

Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Single Submitter

1 SubmittersRCV003809306

NM_000138.5(FBN1):c.2168-15T>G

SNV
Germline

Chr15:48497406

Conflicting classifications of pathogenicity

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003804740 RCV004006071

NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter)

SNV
Germline

Chr15:48489954

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003810093

NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)

SNV
Germline

Chr15:48434642

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003802195

NM_000138.5(FBN1):c.5423-1G>C

SNV
Germline

Chr15:48452685

Pathogenic/Likely pathogenic

Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003802374 RCV004805087

NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)

SNV
Germline

Chr15:48467956

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003802383

NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)

SNV
Germline

Chr15:48537647

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial aortopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003802412 RCV004783115

NM_000138.5(FBN1):c.3745T>G (p.Cys1249Gly)

SNV
Germline

Chr15:48483911

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815678

NM_000138.5(FBN1):c.5671+2T>C

SNV
Germline

Chr15:48448766

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003817940

NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)

SNV
Germline

Chr15:48411123

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813452

NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter)

SNV
Germline

Chr15:48412737

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813497

NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter)

SNV
Germline

Chr15:48425798

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813640

NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)

SNV
Germline

Chr15:48596372

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813681

NM_000138.5(FBN1):c.8052-1G>A

SNV
Germline

Chr15:48412744

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815742

NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter)

SNV
Germline

Chr15:48496217

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003809690

NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser)

SNV
Germline

Chr15:48432955

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003810027

NM_000138.5(FBN1):c.7453+2T>G

SNV
Germline

Chr15:48425367

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815261

NM_000138.5(FBN1):c.165-1G>C

SNV
Germline

Chr15:48613093

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815309

NM_000138.5(FBN1):c.2678-1G>T

SNV
Germline

Chr15:48494255

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815351

NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter)

SNV
Germline

Chr15:48487135

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815628

NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe)

SNV
Germline

Chr15:48483868

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807304

NM_000138.5(FBN1):c.2249G>T (p.Cys750Phe)

SNV
Germline

Chr15:48497310

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807348

NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)

SNV
Germline

Chr15:48472665

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807349

NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)

SNV
Germline

Chr15:48472628

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807609

NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)

SNV
Germline

Chr15:48445431

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807693

NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)

SNV
Germline

Chr15:48600225

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812812

NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)

SNV
Germline

Chr15:48420738

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812867

NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp)

SNV
Germline

Chr15:48430789

Pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003805118

NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)

SNV
Germline

Chr15:48468469

Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003818093

NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)

SNV
Germline

Chr15:48421981

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003885410 RCV004697323

NM_000138.5(FBN1):c.7217G>C (p.Cys2406Ser)

SNV
Germline

Chr15:48425852

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003990886

NM_000138.5(FBN1):c.5620T>C (p.Cys1874Arg)

SNV
Germline

Chr15:48448819

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003991270

NM_000138.5(FBN1):c.2146G>C (p.Gly716Arg)

SNV
Germline

Chr15:48499006

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003991700

NM_000138.5(FBN1):c.811T>A (p.Cys271Ser)

SNV
Germline

Chr15:48534131

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003992008

NM_000138.5(FBN1):c.2585G>C (p.Cys862Ser)

SNV
Germline

Chr15:48495215

Likely pathogenic

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Criteria Provided
Single Submitter

1 SubmittersRCV003994840

NM_000138.5(FBN1):c.6739+2T>C

SNV
Germline

Chr15:48432864

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004013816

NM_000138.5(FBN1):c.442+1G>C

SNV
Germline

Chr15:48600138

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004016252

NM_000138.5(FBN1):c.347-2A>C

SNV
Germline

Chr15:48600236

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004015829

NM_000138.5(FBN1):c.4291T>C (p.Cys1431Arg)

SNV
Germline

Chr15:48472596

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004018084

NM_000138.5(FBN1):c.6012C>G (p.Tyr2004Ter)

SNV
Germline

Chr15:48444566

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004018135

NM_000138.5(FBN1):c.347-1G>C

SNV
Germline

Chr15:48600235

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004555237

NM_000138.5(FBN1):c.6037G>A (p.Asp2013Asn)

SNV
Germline

Chr15:48444541

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004560346

NM_000138.5(FBN1):c.7343G>A (p.Cys2448Tyr)

SNV
Unknown

Chr15:48425479

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004560515

NM_000138.5(FBN1):c.671G>T (p.Cys224Phe)

SNV
Germline

Chr15:48537676

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004577977

NM_000138.5(FBN1):c.3256T>A (p.Cys1086Ser)

SNV
Germline

Chr15:48488194

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004594793

NM_000138.5(FBN1):c.6988G>T (p.Glu2330Ter)

SNV
Germline

Chr15:48428355

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004595311

NM_000138.5(FBN1):c.2223C>G (p.Asn741Lys)

SNV
Germline

Chr15:48497336

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004596068

NM_000138.5(FBN1):c.5789-1G>C

SNV
Germline

Chr15:48445505

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004698738

NM_000138.5(FBN1):c.6114T>G (p.Cys2038Trp)

SNV
Germline

Chr15:48441770

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004764694

NM_000138.5(FBN1):c.6880G>T (p.Glu2294Ter)

SNV
Germline

Chr15:48428463

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004781978

NM_000138.5(FBN1):c.2687G>T (p.Cys896Phe)

SNV
Germline

Chr15:48494245

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004787196

NM_000138.5(FBN1):c.2724T>G (p.Cys908Trp)

SNV
Germline

Chr15:48494208

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788263

NM_000138.5(FBN1):c.3713-2A>G

SNV
Germline

Chr15:48483945

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004790126

NM_000138.5(FBN1):c.8547T>G (p.Tyr2849Ter)

SNV
Germline

Chr15:48411059

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004797005

NM_000138.5(FBN1):c.5756G>A (p.Gly1919Asp)

SNV
Germline

Chr15:48446738

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004797336

NM_000138.5(FBN1):c.3929G>A (p.Gly1310Asp)

SNV
Germline

Chr15:48481690

Likely pathogenic

Marfan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004797416 RCV004810715

NM_000138.5(FBN1):c.3997T>G (p.Cys1333Gly)

SNV
Germline

Chr15:48474618

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004796465

NM_000138.5(FBN1):c.2893G>T (p.Glu965Ter)

SNV
Germline

Chr15:48490040

Pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004803816

NM_000138.5(FBN1):c.1328-1G>T

SNV
Germline

Chr15:48515528

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004803843

NM_000138.5(FBN1):c.2810G>T (p.Cys937Phe)

SNV
Germline

Chr15:48492505

Likely pathogenic

Marfan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004813370

NM_000138.5(FBN1):c.8029G>T (p.Gly2677Cys)

SNV
Germline

Chr15:48415558

Likely pathogenic

Marfan syndrome

No Assertion Criteria Provided

1 SubmittersRCV005002056