FBN1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5840731.	NC_000015.10:g.(?_48410970)_(48412763_?)del GRCh37: Chr15:48703167-48704960 GRCh38: Chr15:48410970-48412763	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 5603482.	NC_000015.9:g.48703187_48748959del45773 GRCh37: Chr15:48703187-48748959 GRCh38: Chr15:48410990-48456762	FBN1		Marfan syndrome	Pathogenic (Aug 27, 2018)	criteria provided, single submitter
Select item 17640283.	NM_000138.5(FBN1):c.8607del (p.Leu2869fs) GRCh37: Chr15:48703196 GRCh38: Chr15:48410999	FBN1	L2869fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jul 20, 2017)	criteria provided, single submitter
Select item 424474.	NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs) GRCh37: Chr15:48703197-48703198 GRCh38: Chr15:48411000-48411001	FBN1	L2869fs	Marfan syndrome	Likely pathogenic (Mar 1, 2008)	criteria provided, single submitter
Select item 424465.	NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) GRCh37: Chr15:48703203 GRCh38: Chr15:48411006	FBN1	Q2867P	Marfan syndrome	Likely pathogenic (Apr 14, 2009)	criteria provided, single submitter
Select item 17083496.	NM_000138.5(FBN1):c.8599del (p.Gln2867fs) GRCh37: Chr15:48703204 GRCh38: Chr15:48411007	FBN1	Q2867fs	Abnormality of connective tissue	Pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 8030787.	NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) GRCh37: Chr15:48703206-48703207 GRCh38: Chr15:48411009-48411010	FBN1	I2866fs	not provided, Marfan syndrome	Likely pathogenic (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6626658.	NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr) GRCh37: Chr15:48703212 GRCh38: Chr15:48411015	FBN1	M2864T	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 14279769.	NM_000138.5(FBN1):c.8576del (p.Gly2859fs) GRCh37: Chr15:48703227 GRCh38: Chr15:48411030	FBN1	G2859fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 40628410.	NM_000138.5(FBN1):c.8561del (p.Leu2854fs) GRCh37: Chr15:48703242 GRCh38: Chr15:48411045	FBN1	L2854fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 176380111.	NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter) GRCh37: Chr15:48703256 GRCh38: Chr15:48411059	FBN1	Y2849*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jan 13, 2017)	criteria provided, single submitter
Select item 54946912.	NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs) GRCh37: Chr15:48703258-48703259 GRCh38: Chr15:48411061-48411062	FBN1	Y2849fs	Marfan syndrome	Likely pathogenic (Nov 7, 2017)	no assertion criteria provided
Select item 50378513.	NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) GRCh37: Chr15:48703259-48703260 GRCh38: Chr15:48411062-48411063	FBN1	K2848fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided	Pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20017514.	NM_000138.5(FBN1):c.8544del (p.Lys2848fs) GRCh37: Chr15:48703259 GRCh38: Chr15:48411062	FBN1	K2848fs	not provided, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54946815.	NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter) GRCh37: Chr15:48703267 GRCh38: Chr15:48411070	FBN1	E2846*	Marfan syndrome	Pathogenic (Nov 7, 2017)	no assertion criteria provided
Select item 52050116.	NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) GRCh37: Chr15:48703273 GRCh38: Chr15:48411076	FBN1	Q2844*	Marfan syndrome	Likely pathogenic (Jul 20, 2017)	criteria provided, single submitter
Select item 41982317.	NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) GRCh37: Chr15:48703274-48703278 GRCh38: Chr15:48411077-48411081	FBN1	L2842fs	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210275118.	NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer) GRCh37: Chr15:48703276-48703277 GRCh38: Chr15:48411079-48411080	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 44548319.	NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs) GRCh37: Chr15:48703280-48703283 GRCh38: Chr15:48411083-48411086	FBN1	K2840fs	not provided	Pathogenic (Jul 28, 2017)	criteria provided, single submitter
Select item 15579520.	NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) GRCh37: Chr15:48703282 GRCh38: Chr15:48411085	FBN1	E2841*	Familial thoracic aortic aneurysm and aortic dissection, not provided	Pathogenic/Likely pathogenic (Feb 8, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54946621.	NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) GRCh37: Chr15:48703286-48703287 GRCh38: Chr15:48411089-48411090	FBN1	K2840fs	Marfan syndrome	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 63815822.	NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) GRCh37: Chr15:48703291 GRCh38: Chr15:48411094	FBN1	K2838*	Marfan syndrome	Pathogenic (Oct 10, 2016)	criteria provided, single submitter
Select item 51712823.	NM_000138.5(FBN1):c.8504dup (p.Leu2836fs) GRCh37: Chr15:48703298-48703299 GRCh38: Chr15:48411101-48411102	FBN1	L2836fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	no assertion criteria provided
Select item 145378324.	NM_000138.5(FBN1):c.8499del (p.Ser2833fs) GRCh37: Chr15:48703304 GRCh38: Chr15:48411107	FBN1	S2833fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 26341425.	NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) GRCh37: Chr15:48703315 GRCh38: Chr15:48411118	FBN1	Q2830*	Cardiovascular phenotype, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4244526.	NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) GRCh37: Chr15:48703320 GRCh38: Chr15:48411123	FBN1	S2828*	Marfan syndrome	Likely pathogenic (Mar 16, 2010)	criteria provided, single submitter
Select item 54946527.	NM_000138.5(FBN1):c.8479del (p.Tyr2827fs) GRCh37: Chr15:48703324 GRCh38: Chr15:48411127	FBN1	Y2827fs	Marfan syndrome	Likely pathogenic (Nov 7, 2017)	no assertion criteria provided
Select item 211213128.	NM_000138.5(FBN1):c.8478del (p.Tyr2827fs) GRCh37: Chr15:48703325 GRCh38: Chr15:48411128	FBN1	Y2827fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 84997529.	NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer) GRCh37: Chr15:48703325-48703326 GRCh38: Chr15:48411128-48411129	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 17867430.	NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) GRCh37: Chr15:48703328-48703330 GRCh38: Chr15:48411131-48411133	FBN1	G2825del	Marfan syndrome	Likely pathogenic (Aug 27, 2015)	criteria provided, single submitter
Select item 107639731.	NM_000138.5(FBN1):c.8456dup (p.Lys2820fs) GRCh37: Chr15:48703346-48703347 GRCh38: Chr15:48411149-48411150	FBN1	K2820fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 54946432.	NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) GRCh37: Chr15:48703356 GRCh38: Chr15:48411159	FBN1	H2816P	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 210377433.	NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter) GRCh37: Chr15:48703361 GRCh38: Chr15:48411164	FBN1	Y2814*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 42994834.	NM_000138.5(FBN1):c.8422del (p.Gln2808fs) GRCh37: Chr15:48703381 GRCh38: Chr15:48411184	FBN1	Q2808fs	not provided	Likely pathogenic (Jan 18, 2017)	criteria provided, single submitter
Select item 54734935.	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) GRCh37: Chr15:48703386-48703387 GRCh38: Chr15:48411189-48411190	FBN1	I2806fs	Marfan syndrome	Pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 3613136.	NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) GRCh37: Chr15:48703386-48703391 GRCh38: Chr15:48411189-48411194	FBN1		Marfan syndrome	Likely pathogenic (Aug 18, 2011)	criteria provided, single submitter
Select item 52023337.	NM_000138.5(FBN1):c.8405dup (p.Phe2803fs) GRCh37: Chr15:48703397-48703398 GRCh38: Chr15:48411200-48411201	FBN1	F2803fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 19, 2016)	criteria provided, single submitter
Select item 107280938.	NM_000138.5(FBN1):c.8398dup (p.Glu2800fs) GRCh37: Chr15:48703404-48703405 GRCh38: Chr15:48411207-48411208	FBN1	E2800fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 63281239.	NM_000138.5(FBN1):c.8359_8360dup (p.Leu2787_Thr2788insTer) GRCh37: Chr15:48703442-48703443 GRCh38: Chr15:48411245-48411246	FBN1		Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Likely pathogenic (Sep 4, 2018)	criteria provided, single submitter
Select item 45049640.	NM_000138.5(FBN1):c.8360dup (p.Thr2788fs) GRCh37: Chr15:48703442-48703443 GRCh38: Chr15:48411245-48411246	FBN1	T2788fs	not provided	Likely pathogenic (Jul 12, 2017)	criteria provided, single submitter
Select item 63281141.	NM_000138.5(FBN1):c.8359_8360del (p.Leu2787fs) GRCh37: Chr15:48703443-48703444 GRCh38: Chr15:48411246-48411247	FBN1	L2787fs	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	Likely pathogenic (Jul 9, 2018)	criteria provided, single submitter
Select item 151803542.	NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp) GRCh37: Chr15:48703455 GRCh38: Chr15:48411258	FBN1	A2783D	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 83970343.	NM_000138.5(FBN1):c.8338dup (p.Leu2780fs) GRCh37: Chr15:48703464-48703465 GRCh38: Chr15:48411267-48411268	FBN1	L2780fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 22261644.	NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro) GRCh37: Chr15:48703464 GRCh38: Chr15:48411267	FBN1	L2780P	Marfan syndrome	Likely pathogenic (Mar 6, 2015)	criteria provided, single submitter
Select item 45727145.	NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter) GRCh37: Chr15:48703468 GRCh38: Chr15:48411271	FBN1	E2779*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 56906246.	NM_000138.5(FBN1):c.8329del (p.Ile2777fs) GRCh37: Chr15:48703474 GRCh38: Chr15:48411277	FBN1	I2777fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 138123547.	NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer) GRCh37: Chr15:48703475-48703476 GRCh38: Chr15:48411278-48411279	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 1643948.	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) GRCh37: Chr15:48703477 GRCh38: Chr15:48411280	FBN1	R2776*	Isolated thoracic aortic aneurysm, Marfan syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145440849.	NM_000138.5(FBN1):c.8323del (p.Val2775fs) GRCh37: Chr15:48703480 GRCh38: Chr15:48411283	FBN1	V2775fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Sep 14, 2021)	criteria provided, single submitter
Select item 61794150.	NM_000138.5(FBN1):c.8275_8291del (p.Glu2759fs) GRCh37: Chr15:48703512-48703528 GRCh38: Chr15:48411315-48411331	FBN1	E2759fs	Progeroid and marfanoid aspect-lipodystrophy syndrome	Pathogenic (Aug 18, 2018)	no assertion criteria provided
Select item 209855351.	NM_000138.5(FBN1):c.8282del (p.Thr2761fs) GRCh37: Chr15:48703521 GRCh38: Chr15:48411324	FBN1	T2761fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 16345752.	NM_000138.4(FBN1):c.(?_4473)_(8280_?)del GRCh37: Chr15:48703523-48760718 GRCh38: Chr15:48411326-48468521	FBN1		Marfan syndrome	Pathogenic (Sep 7, 2011)	criteria provided, single submitter
Select item 37284953.	NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter) GRCh37: Chr15:48703528 GRCh38: Chr15:48411331	FBN1	E2759*	not provided	Likely pathogenic (Dec 29, 2015)	criteria provided, single submitter
Select item 1642454.	NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) GRCh37: Chr15:48703535 GRCh38: Chr15:48411338	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 4244155.	NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) GRCh37: Chr15:48703536 GRCh38: Chr15:48411339	FBN1	W2756*	Marfan syndrome	Pathogenic (Jul 1, 2010)	criteria provided, single submitter
Select item 17912956.	NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) GRCh37: Chr15:48703537-48703538 GRCh38: Chr15:48411340-48411341	FBN1	S2755fs	Marfan syndrome	Pathogenic (Jul 18, 2013)	criteria provided, single submitter
Select item 65190957.	NM_000138.5(FBN1):c.8259del (p.Ala2754fs) GRCh37: Chr15:48703544 GRCh38: Chr15:48411347	FBN1	A2754fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 41889358.	NM_000138.5(FBN1):c.8256del (p.Ala2754fs) GRCh37: Chr15:48703547 GRCh38: Chr15:48411350	FBN1	A2754fs	not provided	Pathogenic (Apr 30, 2015)	criteria provided, single submitter
Select item 54734859.	NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter) GRCh37: Chr15:48703549-48703550 GRCh38: Chr15:48411352-48411353	FBN1	S2752*	Marfan syndrome	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 201746360.	NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter) GRCh37: Chr15:48703561 GRCh38: Chr15:48411364	FBN1	E2748*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 107453061.	NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter) GRCh37: Chr15:48703567-48703568 GRCh38: Chr15:48411370-48411371	FBN1	E2746*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 20012962.	NM_000138.5(FBN1):c.8226+5G>A GRCh37: Chr15:48704761 GRCh38: Chr15:48412564	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, not provided	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22562963.	NM_000138.5(FBN1):c.8226+1G>A GRCh37: Chr15:48704765 GRCh38: Chr15:48412568	FBN1		Progeroid and marfanoid aspect-lipodystrophy syndrome, not provided, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4024564.	NM_000138.5(FBN1):c.8226+1G>T GRCh37: Chr15:48704765 GRCh38: Chr15:48412568	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jan 19, 2020)	criteria provided, single submitter
Select item 213767265.	NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs) GRCh37: Chr15:48704766-48704767 GRCh38: Chr15:48412569-48412570	FBN1	D2743fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 52076766.	NM_000138.5(FBN1):c.8206dup (p.Thr2736fs) GRCh37: Chr15:48704785-48704786 GRCh38: Chr15:48412588-48412589	FBN1	T2736fs	Inborn genetic diseases	Pathogenic (Sep 9, 2015)	criteria provided, single submitter
Select item 168581667.	NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) GRCh37: Chr15:48704789-48704790 GRCh38: Chr15:48412592-48412593	FBN1	E2735fs	Acromicric dysplasia	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 3612568.	NM_000138.5(FBN1):c.8203del (p.Glu2735fs) GRCh37: Chr15:48704789 GRCh38: Chr15:48412592	FBN1	E2735fs	Marfan syndrome	Likely pathogenic (Aug 18, 2011)	criteria provided, single submitter
Select item 22562869.	NM_000138.5(FBN1):c.8175_8182del (p.Arg2726fs) GRCh37: Chr15:48704810-48704817 GRCh38: Chr15:48412613-48412620	FBN1	R2726fs	Progeroid and marfanoid aspect-lipodystrophy syndrome	Pathogenic (Feb 27, 2019)	no assertion criteria provided
Select item 171000470.	NM_000138.5(FBN1):c.8176del (p.Arg2726fs) GRCh37: Chr15:48704816 GRCh38: Chr15:48412619	FBN1	R2726fs	Marfan syndrome	Likely pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 4024471.	NM_000138.5(FBN1):c.8156_8175del (p.Lys2719fs) GRCh37: Chr15:48704817-48704836 GRCh38: Chr15:48412620-48412639	FBN1	K2719fs	Progeroid and marfanoid aspect-lipodystrophy syndrome	Pathogenic (Apr 1, 2011)	no assertion criteria provided
Select item 52717172.	NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter) GRCh37: Chr15:48704819 GRCh38: Chr15:48412622	FBN1	K2725*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 30, 2017)	criteria provided, single submitter
Select item 42702473.	NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser) GRCh37: Chr15:48704822 GRCh38: Chr15:48412625	FBN1	P2724S	not provided	Likely pathogenic (Nov 2, 2017)	criteria provided, single submitter
Select item 4024374.	NM_000138.5(FBN1):c.8155_8156del (p.Lys2719fs) GRCh37: Chr15:48704836-48704837 GRCh38: Chr15:48412639-48412640	FBN1	K2719fs	Progeroid and marfanoid aspect-lipodystrophy syndrome	Pathogenic (Nov 1, 2010)	no assertion criteria provided
Select item 20017375.	NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) GRCh37: Chr15:48704837-48704838 GRCh38: Chr15:48412640-48412641	FBN1	K2719*	not provided	Pathogenic (Jul 23, 2014)	criteria provided, single submitter
Select item 54945576.	NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs) GRCh37: Chr15:48704843-48704844 GRCh38: Chr15:48412646-48412647	FBN1	E2717fs	Marfan syndrome	Likely pathogenic (Nov 7, 2017)	no assertion criteria provided
Select item 26343377.	NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) GRCh37: Chr15:48704843 GRCh38: Chr15:48412646	FBN1	E2717*	Cardiovascular phenotype	Pathogenic (Nov 8, 2012)	criteria provided, single submitter
Select item 176217778.	NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter) GRCh37: Chr15:48704844 GRCh38: Chr15:48412647	FBN1	Y2716*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 54945479.	NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter) GRCh37: Chr15:48704844-48704845 GRCh38: Chr15:48412647-48412648	FBN1	Y2716*	Marfan syndrome	Likely pathogenic (Nov 7, 2017)	no assertion criteria provided
Select item 22261580.	NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) GRCh37: Chr15:48704844 GRCh38: Chr15:48412647	FBN1	Y2716*	Familial thoracic aortic aneurysm and aortic dissection, not provided, Marfan syndrome	Pathogenic/Likely pathogenic (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64803681.	NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter) GRCh37: Chr15:48704847 GRCh38: Chr15:48412650	FBN1	C2715*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 26, 2018)	criteria provided, single submitter
Select item 106930882.	NM_000138.5(FBN1):c.8118del (p.Asp2706fs) GRCh37: Chr15:48704874 GRCh38: Chr15:48412677	FBN1	D2706fs	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 176201583.	NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs) GRCh37: Chr15:48704887-48704888 GRCh38: Chr15:48412690-48412691	FBN1	S2702fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 24, 2017)	criteria provided, single submitter
Select item 145307984.	NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter) GRCh37: Chr15:48704888-48704889 GRCh38: Chr15:48412691-48412692	FBN1	S2702*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (May 19, 2021)	criteria provided, single submitter
Select item 64630085.	NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs) GRCh37: Chr15:48704890-48704891 GRCh38: Chr15:48412693-48412694	FBN1	V2701fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 243189186.	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 66560487.	NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter) GRCh37: Chr15:48704900 GRCh38: Chr15:48412703	FBN1	E2698*	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 9, 2018)	criteria provided, single submitter
Select item 40633688.	NM_000138.5(FBN1):c.8087del (p.Asn2696fs) GRCh37: Chr15:48704905 GRCh38: Chr15:48412708	FBN1	N2696fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Marfan syndrome	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 212880889.	NM_000138.5(FBN1):c.8080del (p.Arg2694fs) GRCh37: Chr15:48704912 GRCh38: Chr15:48412715	FBN1	R2694fs	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 16346190.	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) GRCh37: Chr15:48704912 GRCh38: Chr15:48412715	FBN1	R2694*	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20020791.	NM_000138.5(FBN1):c.8064del (p.Gly2689fs) GRCh37: Chr15:48704928 GRCh38: Chr15:48412731	FBN1	G2689fs	not provided	Pathogenic (Oct 23, 2014)	criteria provided, single submitter
Select item 87021492.	NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) GRCh37: Chr15:48704932-48704933 GRCh38: Chr15:48412735-48412736	FBN1	V2687fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 212316993.	NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr) GRCh37: Chr15:48704935 GRCh38: Chr15:48412738	FBN1	C2686Y	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 107131294.	NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe) GRCh37: Chr15:48704935 GRCh38: Chr15:48412738	FBN1	C2686F	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 58267495.	NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg) GRCh37: Chr15:48704936 GRCh38: Chr15:48412739	FBN1	C2686R	Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 213767396.	NM_000138.5(FBN1):c.8052-2A>G GRCh37: Chr15:48704942 GRCh38: Chr15:48412745	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 66342297.	NC_000015.10:g.(?_48415161)_(48415777_?)del GRCh37: Chr15:48707358-48707974 GRCh38: Chr15:48415161-48415777	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Nov 8, 2018)	criteria provided, single submitter
Select item 45715398.	NC_000015.10:g.(?_48415161)_(48468554_?)del GRCh37: Chr15:48707358-48760751 GRCh38: Chr15:48415161-48468554	FBN1		Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 40632799.	NM_000138.5(FBN1):c.8051+375G>T GRCh37: Chr15:48707358 GRCh38: Chr15:48415161	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 1066229100.	NM_000138.5(FBN1):c.8051+2T>A GRCh37: Chr15:48707731 GRCh38: Chr15:48415534	FBN1		Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Likely pathogenic (Jan 8, 2020)	criteria provided, single submitter

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