ClinVar for Gene (Select 2200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3234666	NM_000138.5(FBN1):c.4284C>T (p.Arg1428=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233870	NM_000138.5(FBN1):c.3713-13T>A	FBN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3230427	NM_000138.5(FBN1):c.785G>T (p.Cys262Phe)	FBN1 (C262F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3230425	NM_000138.5(FBN1):c.7032A>T (p.Leu2344=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230424	NM_000138.5(FBN1):c.696C>T (p.Arg232=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230423	NM_000138.5(FBN1):c.6141C>G (p.Ser2047=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230421	NM_000138.5(FBN1):c.5616T>C (p.Phe1872=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230420	NM_000138.5(FBN1):c.5496C>T (p.Arg1832=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230419	NM_000138.5(FBN1):c.4605T>G (p.Tyr1535Ter)	FBN1 (Y1535*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3230418	NM_000138.5(FBN1):c.4416_4422delinsGAACTG (p.Cys1472fs)	FBN1 (C1472fs)	Indel (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3230417	NM_000138.5(FBN1):c.4331G>T (p.Cys1444Phe)	LOC126862124, FBN1 (C1444F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3230416	NM_000138.5(FBN1):c.414A>G (p.Lys138=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230415	NM_000138.5(FBN1):c.3939C>T (p.Gly1313=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230414	NM_000138.5(FBN1):c.3862C>T (p.Pro1288Ser)	FBN1 (P1288S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230413	NM_000138.5(FBN1):c.3495G>A (p.Leu1165=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230412	NM_000138.5(FBN1):c.3209-1G>A	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3230411	NM_000138.5(FBN1):c.2553C>T (p.Gly851=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230410	NM_000138.5(FBN1):c.2429A>G (p.Glu810Gly)	FBN1 (E810G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230409	NM_000138.5(FBN1):c.225T>A (p.Pro75=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230408	NM_000138.5(FBN1):c.1665C>T (p.Cys555=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230406	NM_000138.5(FBN1):c.1187del (p.Pro396fs)	FBN1 (P396fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3220890	NM_000138.5(FBN1):c.3464-8C>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3076069	NM_000138.5(FBN1):c.762dup (p.Gly255fs)	FBN1 (G255fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3076040	NM_000138.5(FBN1):c.1121dup (p.Pro374_Glu375insTer)	FBN1, LOC113939944	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3076038	NM_000138.5(FBN1):c.7735dup (p.His2579fs)	FBN1 (H2579fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3075999	NC_000015.10:g.(?_48410990)_(48644769_?)del	LOC126862124, FBN1 +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 3075998	NM_000138.5(FBN1):c.5266del (p.Val1756fs)	FBN1 (V1756fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3075990	NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs)	FBN1 (S2005fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3075817	NM_000138.5(FBN1):c.6012C>G (p.Tyr2004Ter)	FBN1 (Y2004*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 3075766	NM_000138.5(FBN1):c.4291T>C (p.Cys1431Arg)	FBN1, LOC126862124 (C1431R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3075496	NM_000138.5(FBN1):c.187T>C (p.Tyr63His)	FBN1 (Y63H)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075493	NM_000138.5(FBN1):c.1715-10G>T	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3075471	NM_000138.5(FBN1):c.6732G>C (p.Met2244Ile)	FBN1 (M2244I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075459	NM_000138.5(FBN1):c.8140G>C (p.Ala2714Pro)	FBN1 (A2714P)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075457	NM_000138.5(FBN1):c.6985G>A (p.Asp2329Asn)	FBN1 (D2329N)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075456	NM_000138.5(FBN1):c.1504G>C (p.Gly502Arg)	FBN1 (G502R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075377	NM_000138.5(FBN1):c.1486A>G (p.Lys496Glu)	FBN1 (K496E)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075365	NM_000138.5(FBN1):c.5521T>C (p.Phe1841Leu)	FBN1 (F1841L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075336	NM_000138.5(FBN1):c.7475A>G (p.Lys2492Arg)	FBN1 (K2492R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075326	NM_000138.5(FBN1):c.6934G>A (p.Gly2312Arg)	FBN1 (G2312R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075303	NM_000138.5(FBN1):c.347-2A>C	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GLikely pathogenic
Select item 3075284	NM_000138.5(FBN1):c.796G>T (p.Val266Phe)	FBN1 (V266F)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075262	NM_000138.5(FBN1):c.4817-11G>T	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3075234	NM_000138.5(FBN1):c.8203G>C (p.Glu2735Gln)	FBN1 (E2735Q)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075232	NM_000138.5(FBN1):c.4678G>C (p.Ala1560Pro)	FBN1 (A1560P)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075228	NM_000138.5(FBN1):c.1454G>A (p.Arg485His)	FBN1 (R485H)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075210	NM_000138.5(FBN1):c.1222C>T (p.Pro408Ser)	FBN1 (P408S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075193	NM_000138.5(FBN1):c.5633C>T (p.Thr1878Ile)	FBN1 (T1878I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075162	NM_000138.5(FBN1):c.6164-12T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3075151	NM_000138.5(FBN1):c.7764C>T (p.Tyr2588=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3075148	NM_000138.5(FBN1):c.1216C>A (p.Leu406Ile)	FBN1 (L406I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075144	NM_000138.5(FBN1):c.3082+5A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3075140	NM_000138.5(FBN1):c.3450C>G (p.Ile1150Met)	FBN1 (I1150M)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075108	NM_000138.5(FBN1):c.989A>G (p.Asp330Gly)	FBN1, LOC113939944 (D330G)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075047	NM_000138.5(FBN1):c.8564G>T (p.Ser2855Ile)	FBN1 (S2855I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075018	NM_000138.5(FBN1):c.4583-4A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3075011	NM_000138.5(FBN1):c.6110A>C (p.Lys2037Thr)	FBN1 (K2037T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075006	NM_000138.5(FBN1):c.1474G>A (p.Asp492Asn)	FBN1 (D492N)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3075005	NM_000138.5(FBN1):c.7306G>A (p.Asp2436Asn)	FBN1 (D2436N)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance

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