ClinVar for Gene (Select 2200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	LOC113939944, FBN1	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	FBN1, LOC113939944 +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
Select item 3075000	NM_000138.5(FBN1):c.6931C>T (p.Arg2311Cys)	FBN1 (R2311C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074978	NM_000138.5(FBN1):c.5918-6T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3074975	NM_000138.5(FBN1):c.6173T>C (p.Met2058Thr)	FBN1 (M2058T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074973	NM_000138.5(FBN1):c.347-5dup	FBN1	Duplication (intron variant)	Marfan syndrome	GLikely benign
Select item 3074967	NM_000138.5(FBN1):c.807T>A (p.Phe269Leu)	FBN1 (F269L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074950	NM_000138.5(FBN1):c.1160del (p.Lys387fs)	FBN1 (K387fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3074945	NM_000138.5(FBN1):c.116C>A (p.Ala39Asp)	FBN1 (A39D)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074939	NM_000138.5(FBN1):c.1149G>A (p.Glu383=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GUncertain significance
Select item 3074933	NM_000138.5(FBN1):c.6164-15A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3074922	NM_000138.5(FBN1):c.1071G>A (p.Gln357=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074911	NM_000138.5(FBN1):c.7491G>A (p.Gln2497=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074881	NM_000138.5(FBN1):c.57dup (p.Tyr20fs)	FBN1, LOC130057019 (Y20fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3074868	NM_000138.5(FBN1):c.1114G>A (p.Val372Ile)	FBN1, LOC113939944 (V372I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074860	NM_000138.5(FBN1):c.5215C>T (p.Pro1739Ser)	FBN1 (P1739S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074829	NM_000138.5(FBN1):c.6087C>T (p.Cys2029=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074819	NM_000138.5(FBN1):c.3450C>A (p.Ile1150=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074796	NM_000138.5(FBN1):c.8061T>G (p.Val2687=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074793	NM_000138.5(FBN1):c.1315C>A (p.Arg439=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074721	NM_000138.5(FBN1):c.7529A>C (p.Lys2510Thr)	FBN1 (K2510T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074702	NM_000138.5(FBN1):c.3735T>C (p.Asn1245=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074689	NM_000138.5(FBN1):c.2478C>T (p.Gly826=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074683	NM_000138.5(FBN1):c.1838-4A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3074677	NM_000138.5(FBN1):c.2791G>A (p.Gly931Arg)	FBN1 (G931R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074670	NM_000138.5(FBN1):c.6872-13T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3074645	NM_000138.5(FBN1):c.6704G>A (p.Gly2235Glu)	FBN1 (G2235E)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074611	NM_000138.5(FBN1):c.7893C>T (p.Cys2631=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074610	NM_000138.5(FBN1):c.7303C>G (p.Pro2435Ala)	FBN1 (P2435A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074604	NM_000138.5(FBN1):c.7820-10T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3074600	NM_000138.5(FBN1):c.3984T>C (p.Ile1328=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074584	NM_000138.5(FBN1):c.989-16_989-15del	FBN1	Microsatellite (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074579	NM_000138.5(FBN1):c.5297-8del	FBN1	Deletion (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074563	NM_000138.5(FBN1):c.1856C>T (p.Thr619Ile)	FBN1 (T619I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074559	NM_000138.5(FBN1):c.6473T>G (p.Ile2158Ser)	FBN1 (I2158S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074547	NM_000138.5(FBN1):c.2539+5T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074537	NM_000138.5(FBN1):c.5671+6T>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074536	NM_000138.5(FBN1):c.371T>C (p.Met124Thr)	FBN1 (M124T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074501	NM_000138.5(FBN1):c.1582T>A (p.Cys528Ser)	FBN1 (C528S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074480	NM_000138.5(FBN1):c.2114-11A>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074457	NM_000138.5(FBN1):c.43G>C (p.Val15Leu)	FBN1, LOC130057019 (V15L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074390	NM_000138.5(FBN1):c.2983G>A (p.Glu995Lys)	FBN1 (E995K)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074374	NM_000138.5(FBN1):c.6659G>T (p.Arg2220Leu)	FBN1 (R2220L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074356	NM_000138.5(FBN1):c.2700C>T (p.Tyr900=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074354	NM_000138.5(FBN1):c.5848A>G (p.Thr1950Ala)	FBN1 (T1950A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074342	NM_000138.5(FBN1):c.4442G>A (p.Ser1481Asn)	FBN1 (S1481N)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074340	NM_000138.5(FBN1):c.3966C>G (p.Asp1322Glu)	FBN1 (D1322E)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074331	NM_000138.5(FBN1):c.5262C>A (p.Gly1754=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074329	NM_000138.5(FBN1):c.7041G>A (p.Met2347Ile)	FBN1 (M2347I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074277	NM_000138.5(FBN1):c.42C>G (p.Thr14=)	LOC130057019, FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074266	NM_000138.5(FBN1):c.354C>T (p.His118=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3074261	NM_000138.5(FBN1):c.7106G>C (p.Arg2369Thr)	FBN1 (R2369T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074243	NM_000138.5(FBN1):c.3209-15G>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3074223	NM_000138.5(FBN1):c.5772CAA[1] (p.Asn1926del)	FBN1 (N1926del)	Microsatellite (inframe_deletion)	Marfan syndrome	GUncertain significance
Select item 3074209	NM_000138.5(FBN1):c.361A>G (p.Ile121Val)	FBN1 (I121V)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074183	NM_000138.5(FBN1):c.3878G>A (p.Ser1293Asn)	FBN1 (S1293N)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074049	NM_000138.5(FBN1):c.442+4A>T	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074020	NM_000138.5(FBN1):c.2168-11T>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3074011	NM_000138.5(FBN1):c.2734G>C (p.Asp912His)	FBN1 (D912H)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074010	NM_000138.5(FBN1):c.3223C>A (p.Arg1075Ser)	FBN1 (R1075S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3073984	NM_000138.5(FBN1):c.5528C>T (p.Ser1843Phe)	FBN1 (S1843F)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3073978	NM_000138.5(FBN1):c.2137A>G (p.Ser713Gly)	FBN1 (S713G)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3073974	NM_000138.5(FBN1):c.6515T>C (p.Val2172Ala)	FBN1 (V2172A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3073966	NM_000138.5(FBN1):c.8134C>T (p.Pro2712Ser)	FBN1 (P2712S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3073954	NM_000138.5(FBN1):c.6868G>A (p.Val2290Ile)	FBN1 (V2290I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance

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