ClinVar for MedGen (Select 44287) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24441231.	NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs) GRCh37: Chr15:48756130-48756148 GRCh38: Chr15:48463933-48463951	FBN1	C1672fs	Marfan syndrome	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24318912.	NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs) GRCh37: Chr15:48704893-48704902 GRCh38: Chr15:48412696-48412705	FBN1	P2697fs	Marfan syndrome	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 24317203.	NM_000138.5(FBN1):c.6497-1G>A GRCh37: Chr15:48726911 GRCh38: Chr15:48434714	FBN1		Marfan syndrome	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 24316014.	NM_000297.4(PKD2):c.2178dup (p.Glu727fs) GRCh37: Chr4:88986584-88986585 GRCh38: Chr4:88065432-88065433	PKD2	E727fs	Marfan syndrome	Likely pathogenic (Aug 26, 2022)	criteria provided, single submitter
Select item 24303125.	NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr) GRCh37: Chr15:48773852 GRCh38: Chr15:48481655	FBN1	D1322Y	Marfan syndrome	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 24303116.	NM_000138.5(FBN1):c.247+4del GRCh37: Chr15:48905203 GRCh38: Chr15:48613006	FBN1		Marfan syndrome	Uncertain significance (Jan 10, 2023)	criteria provided, single submitter
Select item 24279067.	NM_000138.5(FBN1):c.3537G>A (p.Gln1179_Cys1180=) GRCh37: Chr15:48779324 GRCh38: Chr15:48487127	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 24263868.	NM_000138.5(FBN1):c.6163+8T>G GRCh37: Chr15:48733910 GRCh38: Chr15:48441713	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 24224539.	NC_000015.9:g.(?_48888460)_(48905309_?)del GRCh37: Chr15:48888460-48905309	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 242245210.	NC_000015.9:g.(?_48722912)_(48727571_?)del GRCh37: Chr15:48722912-48727571	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 242245111.	NC_000015.9:g.(?_48729138)_(48730134_?)dup GRCh37: Chr15:48729138-48730134	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 242245012.	NC_000015.9:g.(?_48703187)_(48713903_?)del GRCh37: Chr15:48703187-48713903	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 242244913.	NC_000015.9:g.(?_48720523)_(48725205_?)del GRCh37: Chr15:48720523-48725205	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 242244814.	NC_000015.9:g.(?_48729138)_(48734063_?)del GRCh37: Chr15:48729138-48734063	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 242244715.	NC_000015.9:g.(?_48703187)_(48741110_?)del GRCh37: Chr15:48703187-48741110	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 242244616.	NC_000015.9:g.(?_48729138)_(48748979_?)del GRCh37: Chr15:48729138-48748979	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 242244517.	NC_000015.9:g.(?_48902905)_(48936966_?)del GRCh37: Chr15:48902905-48936966	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 242244418.	NC_000015.9:g.(?_48773832)_(48936966_?)del GRCh37: Chr15:48773832-48936966	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 242244319.	NC_000015.9:g.(?_48791162)_(48936966_?)del GRCh37: Chr15:48791162-48936966	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 242244220.	NC_000015.9:g.(?_48805726)_(48808579_?)del GRCh37: Chr15:48805726-48808579	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 242244121.	NC_000015.9:g.(?_48826257)_(49097846_?)del GRCh37: Chr15:48826257-49097846	FBN1, CEP152		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 242244022.	NC_000015.9:g.(?_48888460)_(48888595_?)del GRCh37: Chr15:48888460-48888595	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242243923.	NC_000015.9:g.(?_48733898)_(48734063_?)del GRCh37: Chr15:48733898-48734063	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 242243824.	NC_000015.9:g.(?_48791162)_(48791255_?)del GRCh37: Chr15:48791162-48791255	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 242096125.	NM_000138.5(FBN1):c.7578T>C (p.Asn2526_Glu2527=) GRCh37: Chr15:48713876 GRCh38: Chr15:48421679	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 242063526.	NM_000138.5(FBN1):c.6582G>A (p.Glu2194_Gly2195=) GRCh37: Chr15:48726825 GRCh38: Chr15:48434628	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 241975827.	NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp) GRCh37: Chr15:48782154 GRCh38: Chr15:48489957	FBN1	E992D	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 241906928.	NM_000138.5(FBN1):c.213G>A (p.Trp71Ter) GRCh37: Chr15:48905241 GRCh38: Chr15:48613044	FBN1	W71*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 241906729.	NM_000138.5(FBN1):c.2114-1G>A GRCh37: Chr15:48791236 GRCh38: Chr15:48499039	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 241807530.	NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg) GRCh37: Chr15:48703380 GRCh38: Chr15:48411183	FBN1	Q2808R	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 241706731.	NM_000138.5(FBN1):c.6739+4A>G GRCh37: Chr15:48725059 GRCh38: Chr15:48432862	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 241522032.	NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer) GRCh37: Chr15:48736762-48736763 GRCh38: Chr15:48444565-48444566	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 241387133.	NM_000138.5(FBN1):c.1148-6T>C GRCh37: Chr15:48808565 GRCh38: Chr15:48516368	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 241317534.	NM_000138.5(FBN1):c.2364dup (p.Val789fs) GRCh37: Chr15:48788351-48788352 GRCh38: Chr15:48496154-48496155	FBN1	V789fs	Marfan syndrome	Likely pathogenic (Dec 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 241317435.	NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr) GRCh37: Chr15:48713811 GRCh38: Chr15:48421614	FBN1	F2548Y	Marfan syndrome	Uncertain significance (Dec 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 241317336.	NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter) GRCh37: Chr15:48764829 GRCh38: Chr15:48472632	FBN1	Q1419*	Marfan syndrome	Pathogenic (Dec 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 241317237.	NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter) GRCh37: Chr15:48726902 GRCh38: Chr15:48434705	FBN1	E2169*	Marfan syndrome	Likely pathogenic (Feb 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 241317138.	NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs) GRCh37: Chr15:48796045-48796063 GRCh38: Chr15:48503848-48503866	FBN1	T679fs	Marfan syndrome	Likely pathogenic (Feb 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 241317039.	NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del) GRCh37: Chr15:48766508-48766513 GRCh38: Chr15:48474311-48474316	FBN1		Marfan syndrome	Pathogenic (Dec 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 220321740.	NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp) GRCh37: Chr15:48703280 GRCh38: Chr15:48411083	FBN1	E2841D	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 220264841.	NM_000138.5(FBN1):c.4662A>C (p.Gly1554_Val1555=) GRCh37: Chr15:48760220 GRCh38: Chr15:48468023	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Benign (Mar 11, 2022)	criteria provided, single submitter
Select item 220081742.	NM_000138.5(FBN1):c.1469-10T>C GRCh37: Chr15:48805875 GRCh38: Chr15:48513678	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 220016243.	NM_000138.5(FBN1):c.3838+16A>G GRCh37: Chr15:48775999 GRCh38: Chr15:48483802	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 220007344.	NM_000138.5(FBN1):c.2854+20T>C GRCh37: Chr15:48784638 GRCh38: Chr15:48492441	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 220003545.	NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala) GRCh37: Chr15:48796134 GRCh38: Chr15:48503937	FBN1	T655A	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 219918346.	NM_000138.5(FBN1):c.5422+13A>T GRCh37: Chr15:48748821 GRCh38: Chr15:48456624	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219751547.	NM_000138.5(FBN1):c.4583-6A>T GRCh37: Chr15:48760305 GRCh38: Chr15:48468108	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219666748.	NM_000138.5(FBN1):c.1178T>C (p.Met393Thr) GRCh37: Chr15:48808529 GRCh38: Chr15:48516332	FBN1	M393T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 219613549.	NM_000138.5(FBN1):c.2419+16G>C GRCh37: Chr15:48788281 GRCh38: Chr15:48496084	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 219576050.	NM_000138.5(FBN1):c.8181C>T (p.Gly2727_Arg2728=) GRCh37: Chr15:48704811 GRCh38: Chr15:48412614	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 219558851.	NM_000138.5(FBN1):c.1961-3T>C GRCh37: Chr15:48796139 GRCh38: Chr15:48503942	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 219489952.	NM_000138.5(FBN1):c.8052-14C>A GRCh37: Chr15:48704954 GRCh38: Chr15:48412757	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 219395453.	NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe) GRCh37: Chr15:48812903 GRCh38: Chr15:48520706	LOC113939944, FBN1	S367F	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 219054954.	NM_000138.5(FBN1):c.2293+8G>A GRCh37: Chr15:48789455 GRCh38: Chr15:48497258	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 218848355.	NM_000138.5(FBN1):c.1461G>A (p.Glu487_Cys488=) GRCh37: Chr15:48807591 GRCh38: Chr15:48515394	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 218846456.	NM_000138.5(FBN1):c.3713-17G>T GRCh37: Chr15:48776157 GRCh38: Chr15:48483960	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 218843357.	NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln) GRCh37: Chr15:48807634 GRCh38: Chr15:48515437	FBN1	R473Q	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 218621958.	NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg) GRCh37: Chr15:48800883 GRCh38: Chr15:48508686	FBN1	I578R	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 218402959.	NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr) GRCh37: Chr15:48764757 GRCh38: Chr15:48472560	FBN1	A1443T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 218162960.	NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln) GRCh37: Chr15:48787331 GRCh38: Chr15:48495134	FBN1	L889Q	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 218076861.	NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val) GRCh37: Chr15:48740985 GRCh38: Chr15:48448788	FBN1	D1884V	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 218025262.	NM_000138.5(FBN1):c.4747+8G>C GRCh37: Chr15:48760127 GRCh38: Chr15:48467930	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 218007163.	NM_000138.5(FBN1):c.7275T>C (p.Tyr2425_His2426=) GRCh37: Chr15:48717991 GRCh38: Chr15:48425794	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 217972864.	NM_000138.5(FBN1):c.988+16_988+26del GRCh37: Chr15:48818301-48818311 GRCh38: Chr15:48526104-48526114	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 217903665.	NM_000138.5(FBN1):c.432C>G (p.His144Gln) GRCh37: Chr15:48892346 GRCh38: Chr15:48600149	FBN1	H144Q	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 217866566.	NM_000138.5(FBN1):c.1960+14A>G GRCh37: Chr15:48797208 GRCh38: Chr15:48505011	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 217778867.	NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile) GRCh37: Chr15:48812858 GRCh38: Chr15:48520661	FBN1, LOC113939944	T382I	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 217686268.	NM_000138.5(FBN1):c.6739+16C>T GRCh37: Chr15:48725047 GRCh38: Chr15:48432850	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 217630469.	NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu) GRCh37: Chr15:48733959 GRCh38: Chr15:48441762	FBN1	P2041L	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 217498070.	NM_000138.5(FBN1):c.7335G>A (p.Leu2445_Asn2446=) GRCh37: Chr15:48717684 GRCh38: Chr15:48425487	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 217326671.	NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile) GRCh37: Chr15:48748891 GRCh38: Chr15:48456694	FBN1	F1789I	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 217326372.	NM_000138.5(FBN1):c.6740-17T>C GRCh37: Chr15:48723016 GRCh38: Chr15:48430819	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 217238773.	NM_000138.5(FBN1):c.3209-19A>G GRCh37: Chr15:48780457 GRCh38: Chr15:48488260	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 217225374.	NM_000138.5(FBN1):c.2957C>T (p.Ala986Val) GRCh37: Chr15:48782173 GRCh38: Chr15:48489976	FBN1	A986V	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 217220075.	NM_000138.5(FBN1):c.102G>C (p.Val34_Lys35=) GRCh37: Chr15:48936865 GRCh38: Chr15:48644668	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 217069576.	NM_000138.5(FBN1):c.2674G>A (p.Val892Ile) GRCh37: Chr15:48787323 GRCh38: Chr15:48495126	FBN1	V892I	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 217056377.	NM_000138.5(FBN1):c.4263C>G (p.Leu1421_Asn1422=) GRCh37: Chr15:48764821 GRCh38: Chr15:48472624	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216921978.	NM_000138.5(FBN1):c.716T>C (p.Ile239Thr) GRCh37: Chr15:48829828 GRCh38: Chr15:48537631	FBN1	I239T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Benign (Apr 12, 2022)	criteria provided, single submitter
Select item 216887579.	NM_000138.5(FBN1):c.2539+11T>C GRCh37: Chr15:48787655 GRCh38: Chr15:48495458	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216857380.	NM_000138.5(FBN1):c.6687A>G (p.Glu2229_Cys2230=) GRCh37: Chr15:48725115 GRCh38: Chr15:48432918	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216687981.	NM_000138.5(FBN1):c.763G>T (p.Gly255Trp) GRCh37: Chr15:48826376 GRCh38: Chr15:48534179	FBN1	G255W	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 216673682.	NM_000138.5(FBN1):c.2729-19A>T GRCh37: Chr15:48784802 GRCh38: Chr15:48492605	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216555783.	NM_000138.5(FBN1):c.7204+20A>G GRCh37: Chr15:48719744 GRCh38: Chr15:48427547	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 216384384.	NM_000138.5(FBN1):c.443-20G>A GRCh37: Chr15:48888595 GRCh38: Chr15:48596398	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 216354585.	NM_000138.5(FBN1):c.5296+10G>A GRCh37: Chr15:48752433 GRCh38: Chr15:48460236	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216289886.	NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr) GRCh37: Chr15:48726802 GRCh38: Chr15:48434605	FBN1	M2202T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 26, 2021)	criteria provided, single submitter
Select item 216242387.	NM_000138.5(FBN1):c.6380-20T>C GRCh37: Chr15:48729294 GRCh38: Chr15:48437097	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 216208288.	NM_000138.5(FBN1):c.4230G>A (p.Glu1410_Asn1411=) GRCh37: Chr15:48764854 GRCh38: Chr15:48472657	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 216200789.	NM_000138.5(FBN1):c.5343G>C (p.Val1781_Cys1782=) GRCh37: Chr15:48748913 GRCh38: Chr15:48456716	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 216125290.	NM_000138.5(FBN1):c.2930T>C (p.Met977Thr) GRCh37: Chr15:48782200 GRCh38: Chr15:48490003	FBN1	M977T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 216054591.	NM_000138.5(FBN1):c.2168-11T>C GRCh37: Chr15:48789599 GRCh38: Chr15:48497402	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 216048892.	NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp) GRCh37: Chr15:48712985 GRCh38: Chr15:48420788	FBN1	G2573D	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 216017293.	NM_000138.5(FBN1):c.3590-17_3590-15del GRCh37: Chr15:48777708-48777710 GRCh38: Chr15:48485511-48485513	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 215979794.	NM_000138.5(FBN1):c.928A>C (p.Ser310Arg) GRCh37: Chr15:48818387 GRCh38: Chr15:48526190	FBN1	S310R	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 215929495.	NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn) GRCh37: Chr15:48808506 GRCh38: Chr15:48516309	FBN1	Y401N	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 215835196.	NM_000138.5(FBN1):c.6496+10A>C GRCh37: Chr15:48729148 GRCh38: Chr15:48436951	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215741697.	NM_000138.5(FBN1):c.3083-9T>C GRCh37: Chr15:48780699 GRCh38: Chr15:48488502	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 215703898.	NM_000138.5(FBN1):c.989-10T>A GRCh37: Chr15:48813024 GRCh38: Chr15:48520827	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 215703799.	NM_000138.5(FBN1):c.989-8G>A GRCh37: Chr15:48813022 GRCh38: Chr15:48520825	LOC113939944, FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 2156693100.	NM_000138.5(FBN1):c.6804C>T (p.Leu2268_Ile2269=) GRCh37: Chr15:48722935 GRCh38: Chr15:48430738	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Benign (Jul 15, 2022)	criteria provided, single submitter

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