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 25791321.	NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del) GRCh37: Chr15:48936933-48936944 GRCh38: Chr15:48644736-48644747	FBN1		Marfan syndrome	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25791252.	NM_000138.5(FBN1):c.6670dup (p.Thr2224fs) GRCh37: Chr15:48725131-48725132 GRCh38: Chr15:48432934-48432935	FBN1	T2224fs	Marfan syndrome	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25726293.	NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg) GRCh37: Chr15:48780658 GRCh38: Chr15:48488461	FBN1	C1039R	Marfan syndrome	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 25725474.	NM_000138.5(FBN1):c.2342del (p.Cys781fs) GRCh37: Chr15:48788374 GRCh38: Chr15:48496177	FBN1	C781fs	Marfan syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25724915.	NM_000138.5(FBN1):c.2830del (p.Asp944fs) GRCh37: Chr15:48784682 GRCh38: Chr15:48492485	FBN1	D944fs	Marfan syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25724526.	NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe) GRCh37: Chr15:48760614 GRCh38: Chr15:48468417	FBN1	C1526F	Marfan syndrome	Uncertain significance	criteria provided, single submitter
Select item 25715937.	NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe) GRCh37: Chr15:48779514 GRCh38: Chr15:48487317	FBN1	C1153F	Marfan syndrome	Pathogenic (Jul 10, 2023)	criteria provided, single submitter
Select item 25060188.	NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter) GRCh37: Chr15:48714179 GRCh38: Chr15:48421982	FBN1	G2514*	Marfan syndrome	Pathogenic (Jun 15, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25060049.	NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del) GRCh37: Chr15:48738955-48738957 GRCh38: Chr15:48446758-48446760	FBN1	F1912del	Marfan syndrome	Likely pathogenic (Jun 15, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250289610.	NM_000138.5(FBN1):c.114del (p.Ala39fs) GRCh37: Chr15:48936853 GRCh38: Chr15:48644656	FBN1	A39fs	Marfan syndrome	Pathogenic (Dec 28, 2021)	no assertion criteria provided
Select item 250082611.	NM_000138.5(FBN1):c.6151dup (p.Arg2051fs) GRCh37: Chr15:48733929-48733930 GRCh38: Chr15:48441732-48441733	FBN1	R2051fs	Marfan syndrome	Pathogenic (May 5, 2023)	criteria provided, single submitter
Select item 250023212.	NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr) GRCh37: Chr15:48726838 GRCh38: Chr15:48434641	FBN1	C2190Y	Ectopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2	Likely pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 250003013.	NM_000138.5(FBN1):c.164+3A>G GRCh37: Chr15:48936800 GRCh38: Chr15:48644603	FBN1		Ectopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 250002914.	NM_000138.5(FBN1):c.6037+9G>A GRCh37: Chr15:48736729 GRCh38: Chr15:48444532	FBN1		Ectopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 250002815.	NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile) GRCh37: Chr15:48796133 GRCh38: Chr15:48503936	FBN1	T655I	Ectopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 249819016.	NM_000138.5(FBN1):c.4265del (p.Asn1422fs) GRCh37: Chr15:48764819 GRCh38: Chr15:48472622	FBN1, LOC126862124	N1422fs	Marfan syndrome	Pathogenic (Mar 23, 2023)	criteria provided, single submitter
Select item 244412317.	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 243189118.	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 243172019.	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 243031220.	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 243031121.	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 242790622.	NM_000138.5(FBN1):c.3537G>A (p.Gln1179=) 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 242638623.	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 242245324.	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 242245225.	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 242245126.	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 242245027.	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 242244928.	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 242244829.	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 242244730.	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 242244631.	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 242244532.	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 242244433.	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 242244334.	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 242244235.	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 242244136.	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 242244037.	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 242243938.	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 242243839.	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 242096140.	NM_000138.5(FBN1):c.7578T>C (p.Asn2526=) GRCh37: Chr15:48713876 GRCh38: Chr15:48421679	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 242063541.	NM_000138.5(FBN1):c.6582G>A (p.Glu2194=) GRCh37: Chr15:48726825 GRCh38: Chr15:48434628	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 241975842.	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 241906943.	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 241906744.	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 241807545.	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 241706746.	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 241522047.	NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer) GRCh37: Chr15:48736762-48736763 GRCh38: Chr15:48444565-48444566	FBN1		Marfan syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241387148.	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 241317549.	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 241317450.	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 241317351.	NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter) GRCh37: Chr15:48764829 GRCh38: Chr15:48472632	FBN1, LOC126862124	Q1419*	Marfan syndrome	Pathogenic (Dec 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 241317252.	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 241317153.	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 241317054.	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 220321755.	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 220264856.	NM_000138.5(FBN1):c.4662A>C (p.Gly1554=) 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 220081757.	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 220016258.	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 220007359.	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 220003560.	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 219918361.	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 219751562.	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 219666763.	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 219613564.	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 219576065.	NM_000138.5(FBN1):c.8181C>T (p.Gly2727=) 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 219558866.	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 219489967.	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 219395468.	NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe) GRCh37: Chr15:48812903 GRCh38: Chr15:48520706	FBN1, LOC113939944	S367F	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219054969.	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 218848370.	NM_000138.5(FBN1):c.1461G>A (p.Glu487=) GRCh37: Chr15:48807591 GRCh38: Chr15:48515394	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 218846471.	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 218843372.	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 218621973.	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 218402974.	NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr) GRCh37: Chr15:48764757 GRCh38: Chr15:48472560	FBN1, LOC126862124	A1443T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 218162975.	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 218076876.	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 218025277.	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 218007178.	NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=) GRCh37: Chr15:48717991 GRCh38: Chr15:48425794	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 217972879.	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 217903680.	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 217866581.	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 217778882.	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 217686283.	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 217630484.	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 217498085.	NM_000138.5(FBN1):c.7335G>A (p.Leu2445=) GRCh37: Chr15:48717684 GRCh38: Chr15:48425487	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 217326686.	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 217326387.	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 217238788.	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 217225389.	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 217220090.	NM_000138.5(FBN1):c.102G>C (p.Val34=) 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 217069591.	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 217056392.	NM_000138.5(FBN1):c.4263C>G (p.Leu1421=) GRCh37: Chr15:48764821 GRCh38: Chr15:48472624	FBN1, LOC126862124		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216921993.	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, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jan 26, 2023)	criteria provided, conflicting interpretations
Select item 216887594.	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 216857395.	NM_000138.5(FBN1):c.6687A>G (p.Glu2229=) GRCh37: Chr15:48725115 GRCh38: Chr15:48432918	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216687996.	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 216673697.	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 216555798.	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 216384399.	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 2163545100.	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

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