ClinVar for Gene (Select 2200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374724	NM_000138.5(FBN1):c.6880G>T (p.Glu2294Ter)	FBN1 (E2294*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 3374706	NM_000138.5(FBN1):c.5353_5354del (p.Met1785fs)	FBN1 (M1785fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3373724	NM_000138.5(FBN1):c.*4A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3373223	NM_000138.5(FBN1):c.2477G>C (p.Gly826Ala)	FBN1 (G826A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371966	NM_000138.5(FBN1):c.7957G>A (p.Gly2653Ser)	FBN1 (G2653S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371339	NM_000138.5(FBN1):c.5072G>C (p.Arg1691Thr)	FBN1 (R1691T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371051	NM_000138.5(FBN1):c.2378C>T (p.Pro793Leu)	FBN1 (P793L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369921	NM_000138.5(FBN1):c.998C>G (p.Pro333Arg)	FBN1, LOC113939944 (P333R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369794	NM_000138.5(FBN1):c.5447C>G (p.Pro1816Arg)	FBN1 (P1816R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369611	NM_000138.5(FBN1):c.3846T>G (p.Asn1282Lys)	FBN1 (N1282K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369313	NM_000138.5(FBN1):c.1652G>A (p.Gly551Asp)	FBN1 (G551D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366517	NM_000138.5(FBN1):c.7688C>T (p.Ser2563Phe)	FBN1 (S2563F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366453	NM_000138.5(FBN1):c.7538C>G (p.Pro2513Arg)	FBN1 (P2513R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366301	NM_000138.5(FBN1):c.3754G>A (p.Gly1252Ser)	FBN1 (G1252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366271	NM_000138.5(FBN1):c.6239A>C (p.Lys2080Thr)	FBN1 (K2080T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365532	NM_000138.5(FBN1):c.2197A>G (p.Ile733Val)	FBN1 (I733V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365104	NM_000138.5(FBN1):c.881C>T (p.Thr294Ile)	FBN1 (T294I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365054	NM_000138.5(FBN1):c.797T>C (p.Val266Ala)	FBN1 (V266A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364149	NM_000138.5(FBN1):c.2857A>G (p.Ile953Val)	FBN1 (I953V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364076	NM_000138.5(FBN1):c.989-12_989-11inv	FBN1	Inversion (intron variant)	not provided	GUncertain significance
Select item 3363725	NM_000138.5(FBN1):c.3409C>G (p.Arg1137Gly)	FBN1 (R1137G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362686	NM_000138.5(FBN1):c.6114T>G (p.Cys2038Trp)	FBN1 (C2038W)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3362270	NM_000138.5(FBN1):c.4223G>T (p.Cys1408Phe)	FBN1 (C1408F)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3362265	NM_000138.5(FBN1):c.661T>C (p.Cys221Arg)	FBN1 (C221R)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant	GUncertain significance
Select item 3359107	NM_000138.5(FBN1):c.5792_5794del (p.Val1931del)	FBN1 (V1931del)	Deletion (inframe_deletion)	Marfan syndrome	GUncertain significance
Select item 3348344	NM_000138.5(FBN1):c.8088C>T (p.Asn2696=)	FBN1	Single nucleotide variant (synonymous variant)	FBN1-related disorder	GLikely benign
Select item 3348102	NM_000138.5(FBN1):c.2254_2260del (p.Ser752fs)	FBN1 (S752fs)	Deletion (frameshift variant)	FBN1-related disorder	GPathogenic
Select item 3347426	NM_000138.5(FBN1):c.877A>T (p.Ser293Cys)	FBN1 (S293C)	Single nucleotide variant (missense variant)	FBN1-related disorder	GUncertain significance
Select item 3347020	NM_000138.5(FBN1):c.965C>T (p.Ser322Phe)	FBN1 (S322F)	Single nucleotide variant (missense variant)	FBN1-related disorder	GUncertain significance
Select item 3346435	NM_000138.5(FBN1):c.5849C>T (p.Thr1950Ile)	FBN1 (T1950I)	Single nucleotide variant (missense variant)	FBN1-related disorder	GUncertain significance
Select item 3345611	NM_000138.5(FBN1):c.4826del (p.Glu1609fs)	FBN1 (E1609fs)	Deletion (frameshift variant)	FBN1-related disorder	GPathogenic
Select item 3343596	NM_000138.5(FBN1):c.3535C>A (p.Gln1179Lys)	FBN1 (Q1179K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341053	NM_000138.5(FBN1):c.5060G>C (p.Cys1687Ser)	FBN1 (C1687S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340917	NM_000138.5(FBN1):c.4374T>A (p.Phe1458Leu)	FBN1 (F1458L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340775	NM_000138.5(FBN1):c.527A>G (p.Gln176Arg)	FBN1 (Q176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340489	NM_000138.5(FBN1):c.6784del (p.Gln2262fs)	FBN1 (Q2262fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3340395	NM_000138.5(FBN1):c.5495G>C (p.Arg1832Pro)	FBN1 (R1832P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340335	NM_000138.5(FBN1):c.3781T>A (p.Tyr1261Asn)	FBN1 (Y1261N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340275	NM_000138.5(FBN1):c.5917+2T>C	FBN1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3340207	NM_000138.5(FBN1):c.2260T>C (p.Tyr754His)	FBN1 (Y754H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339794	NM_000138.5(FBN1):c.7725C>T (p.His2575=)	FBN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339239	NM_000138.5(FBN1):c.4755del (p.Glu1584_Tyr1585insTer)	FBN1	Deletion (nonsense)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GPathogenic
Select item 3339185	NM_000138.5(FBN1):c.8227-3del	FBN1	Deletion (intron variant)	not specified	GUncertain significance
Select item 3338893	NM_000138.5:c.[7238G>C;7244A>T]	FBN1	Indel	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 3338879	NM_000138.5(FBN1):c.4210G>T (p.Asp1404Tyr)	FBN1 (D1404Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338878	NM_000138.5(FBN1):c.6163+1del	FBN1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 3338650	NM_000138.5(FBN1):c.8143_8144insCTCCCCAGAGGCT (p.Cys2715fs)	FBN1 (C2715fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3338260	NM_000138.5(FBN1):c.5789-1G>C	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GPathogenic
Select item 3337866	NM_000138.5:c.164+10444_347-5190del	FBN1	Deletion	not provided	GPathogenic
Select item 3337101	NM_000138.5(FBN1):c.2462G>C (p.Cys821Ser)	FBN1 (C821S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337099	NM_000138.5(FBN1):c.4127del (p.Gln1376fs)	FBN1 (Q1376fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337098	NM_000138.5(FBN1):c.7115G>A (p.Gly2372Asp)	FBN1 (G2372D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336880	NM_000138.5(FBN1):c.6313+1G>T	FBN1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3336387	NM_000138.5(FBN1):c.4448G>C (p.Gly1483Ala)	FBN1 (G1483A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336142	NM_000138.5(FBN1):c.765G>A (p.Gly255=)	FBN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3277956	NM_000138.5(FBN1):c.7930G>A (p.Gly2644Arg)	FBN1 (G2644R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277955	NM_000138.5(FBN1):c.4561C>G (p.Pro1521Ala)	FBN1 (P1521A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277954	NM_000138.5(FBN1):c.510C>A (p.Tyr170Ter)	FBN1 (Y170*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3277952	NM_000138.5(FBN1):c.4359G>T (p.Pro1453=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277951	NM_000138.5(FBN1):c.443-2_443-1insATGT	FBN1	Insertion (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277950	NM_000138.5(FBN1):c.2091del (p.Gln697fs)	FBN1 (Q697fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3277949	NM_000138.5(FBN1):c.5455C>T (p.Gln1819Ter)	FBN1 (Q1819*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3277948	NM_000138.5(FBN1):c.4284_4288dup (p.Glu1430fs)	FBN1, LOC126862124 (E1430fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3277946	NM_000138.5(FBN1):c.3009G>A (p.Glu1003=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277945	NM_000138.5(FBN1):c.1435G>C (p.Gly479Arg)	FBN1 (G479R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277943	NM_000138.5(FBN1):c.3755G>T (p.Gly1252Val)	FBN1 (G1252V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277942	NM_000138.5(FBN1):c.6304G>T (p.Glu2102Ter)	FBN1 (E2102*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3277940	NM_000138.5(FBN1):c.7550A>G (p.Gln2517Arg)	FBN1 (Q2517R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3257401	NM_000138.5(FBN1):c.5066-5T>C	FBN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3256965	NM_000138.5(FBN1):c.6922C>T (p.Leu2308Phe)	FBN1 (L2308F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256597	NM_000138.5(FBN1):c.2223C>G (p.Asn741Lys)	FBN1 (N741K)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3255130	NM_000138.5(FBN1):c.2299A>T (p.Asn767Tyr)	FBN1 (N767Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3255128	NM_000138.5(FBN1):c.6988G>T (p.Glu2330Ter)	FBN1 (E2330*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 3254610	NM_000138.5(FBN1):c.3256T>A (p.Cys1086Ser)	FBN1 (C1086S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 3253127	NM_000138.5(FBN1):c.7216T>A (p.Cys2406Ser)	FBN1 (C2406S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3252537	NM_000138.5(FBN1):c.6241C>T (p.Gln2081Ter)	FBN1 (Q2081*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3251805	NM_000138.5(FBN1):c.6320T>C (p.Phe2107Ser)	FBN1 (F2107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251624	NM_000138.5(FBN1):c.8072G>A (p.Gly2691Asp)	FBN1 (G2691D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251460	NM_000138.5(FBN1):c.3714dup (p.Ile1239fs)	FBN1 (I1239fs)	Duplication (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GPathogenic
Select item 3251459	NM_000138.5(FBN1):c.3713-10_3713-1delinsAA	FBN1	Indel (splice acceptor variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 3251303	NM_000138.5(FBN1):c.1715-19G>A	FBN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251279	NM_000138.5(FBN1):c.6155G>C (p.Arg2052Thr)	FBN1 (R2052T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251278	NM_000138.5(FBN1):c.3713-10_3713delinsAAAC	FBN1	Indel (splice acceptor variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 3251244	NM_000138.5(FBN1):c.1677_1678insAT (p.Gly560fs)	FBN1 (G560fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3243886	NC_000015.9:g.(?_48413242)_(49097846_?)del	CEP152, CTXN2 +5 more	Deletion	not provided	GPathogenic
Select item 3243740	NC_000015.9:g.(?_48692137)_(48826328_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243738	NC_000015.9:g.(?_48791030)_(48829850_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243737	NC_000015.9:g.(?_48719801)_(48723343_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243736	NC_000015.9:g.(?_48670502)_(48703332_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243735	NC_000015.9:g.(?_48750861)_(48752488_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243734	NC_000015.9:g.(?_48793703)_(48796070_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243733	NC_000015.9:g.(?_48760115)_(48773997_?)dup	FBN1	Duplication	Marfan syndrome +1 more	GUncertain significance
Select item 3243732	NC_000015.9:g.(?_48826257)_(48826422_?)dup	FBN1	Duplication	Marfan syndrome +1 more	GUncertain significance
Select item 3243731	NC_000015.9:g.(?_48784638)_(48818472_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243730	NC_000015.9:g.(?_48773832)_(48888595_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic

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