ClinVar for Gene (Select 2200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3243729	NC_000015.9:g.(?_48725043)_(48726930_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243727	NC_000015.9:g.(?_48738883)_(48741110_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243726	NC_000015.9:g.(?_48740945)_(48752534_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243725	NC_000015.9:g.(?_48744739)_(48760751_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243724	NC_000015.9:g.(?_48703187)_(48762973_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243723	NC_000015.9:g.(?_48766432)_(48766867_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243722	NC_000015.9:g.(?_48780450)_(48783088_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243721	NC_000015.9:g.(?_48888460)_(48936966_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243720	NC_000015.9:g.(?_48788277)_(48936966_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243719	NC_000015.9:g.(?_48713735)_(48796156_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243718	NC_000015.9:g.(?_48807564)_(48808579_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243714	NC_000015.9:g.(?_48722848)_(48723019_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243713	NC_000015.9:g.(?_48725043)_(48725205_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243712	NC_000015.9:g.(?_48748814)_(48748979_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243711	NC_000015.9:g.(?_48800759)_(48800921_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3242462	NM_000138.5(FBN1):c.671G>T (p.Cys224Phe)	FBN1 (C224F)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3238852	NM_000138.5(FBN1):c.3107C>G (p.Pro1036Arg)	FBN1 (P1036R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3237522	NM_000138.5(FBN1):c.7343G>A (p.Cys2448Tyr)	FBN1 (C2448Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 3237352	NM_000138.5(FBN1):c.6037G>A (p.Asp2013Asn)	FBN1 (D2013N)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3236368	NM_000138.5(FBN1):c.512G>A (p.Gly171Glu)	FBN1 (G171E)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3236156	NM_000138.5(FBN1):c.8226G>A (p.Glu2742=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GUncertain significance
Select item 3236095	NM_000138.5(FBN1):c.6442T>C (p.Ser2148Pro)	FBN1 (S2148P)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3235976	NM_000138.5(FBN1):c.347-1G>C	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GLikely pathogenic
Select item 3235751	NM_000138.5(FBN1):c.5112_5146del (p.Thr1705fs)	FBN1 (T1705fs)	Deletion (frameshift variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome	GPathogenic
Select item 3235700	NM_000138.5(FBN1):c.5667_5668insTTGGA (p.Ile1892fs)	FBN1 (I1892fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3235263	NM_000138.5(FBN1):c.7571-116_8052-1060del	FBN1	Deletion (splice acceptor variant +1 more)	Marfan syndrome	GPathogenic
Select item 3235258	NM_000138.5(FBN1):c.1589-13A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3235257	NM_000138.5(FBN1):c.168dup (p.Asn57fs)	FBN1 (N57fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3234950	NM_000138.5(FBN1):c.6389A>C (p.Glu2130Ala)	FBN1 (E2130A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3234776	NM_000138.5(FBN1):c.3082+5_3082+6insT	FBN1	Insertion (intron variant)	not provided	GUncertain significance

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