ClinVar for Gene (Select 84467) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357776	NM_032447.5(FBN3):c.7525T>C (p.Phe2509Leu)	FBN3 (F2509L)	Single nucleotide variant (missense variant)	FBN3-related disorder	GUncertain significance
Select item 3278003	NM_032447.5(FBN3):c.2009G>A (p.Cys670Tyr)	FBN3 (C670Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278002	NM_032447.5(FBN3):c.2650C>T (p.Arg884Cys)	FBN3 (R884C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278000	NM_032447.5(FBN3):c.6862A>C (p.Thr2288Pro)	FBN3 (T2288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277999	NM_032447.5(FBN3):c.1114G>A (p.Gly372Ser)	FBN3 (G372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277998	NM_032447.5(FBN3):c.478C>T (p.Arg160Cys)	FBN3 (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277997	NM_032447.5(FBN3):c.1228G>A (p.Asp410Asn)	FBN3 (D410N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277996	NM_032447.5(FBN3):c.7924C>T (p.Arg2642Trp)	FBN3 (R2642W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277995	NM_032447.5(FBN3):c.7018C>A (p.Pro2340Thr)	FBN3 (P2340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277994	NM_032447.5(FBN3):c.3823G>A (p.Ala1275Thr)	FBN3 (A1275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277993	NM_032447.5(FBN3):c.853G>A (p.Ala285Thr)	FBN3 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277991	NM_032447.5(FBN3):c.3113T>C (p.Leu1038Pro)	FBN3 (L1038P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277990	NM_032447.5(FBN3):c.6261G>C (p.Glu2087Asp)	FBN3 (E2087D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277989	NM_032447.5(FBN3):c.557C>T (p.Pro186Leu)	FBN3 (P186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277988	NM_032447.5(FBN3):c.5362C>T (p.Arg1788Cys)	FBN3 (R1788C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277987	NM_032447.5(FBN3):c.2570G>A (p.Arg857Gln)	FBN3 (R857Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277986	NM_032447.5(FBN3):c.55G>T (p.Ala19Ser)	FBN3 (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277985	NM_032447.5(FBN3):c.337G>A (p.Gly113Arg)	FBN3 (G113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277984	NM_032447.5(FBN3):c.6800G>C (p.Arg2267Pro)	FBN3 (R2267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242719	NC_000019.9:g.(?_8152689)_(8155155_?)dup	FBN3	Duplication	not provided	GUncertain significance
Select item 3242718	NC_000019.9:g.(?_8170972)_(8177003_?)del	FBN3	Deletion	not provided	GUncertain significance
Select item 3242717	NC_000019.9:g.(?_8197848)_(8198010_?)del	FBN3	Deletion	not provided	GUncertain significance
Select item 3093412	NM_032447.5(FBN3):c.8356G>A (p.Gly2786Ser)	FBN3 (G2786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093411	NM_032447.5(FBN3):c.8222T>C (p.Ile2741Thr)	FBN3 (I2741T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093410	NM_032447.5(FBN3):c.8213G>A (p.Arg2738His)	FBN3 (R2738H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093409	NM_032447.5(FBN3):c.818G>A (p.Arg273His)	FBN3 (R273H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093408	NM_032447.5(FBN3):c.8164C>T (p.Arg2722Cys)	FBN3 (R2722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093406	NM_032447.5(FBN3):c.7980C>G (p.Asp2660Glu)	FBN3 (D2660E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093405	NM_032447.5(FBN3):c.7843G>A (p.Ala2615Thr)	FBN3 (A2615T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093404	NM_032447.5(FBN3):c.7561A>G (p.Ser2521Gly)	FBN3 (S2521G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093403	NM_032447.5(FBN3):c.7290C>G (p.Ser2430Arg)	FBN3 (S2430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093402	NM_032447.5(FBN3):c.7277G>A (p.Ser2426Asn)	FBN3 (S2426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093401	NM_032447.5(FBN3):c.7022T>C (p.Leu2341Pro)	FBN3 (L2341P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093399	NM_032447.5(FBN3):c.6815C>T (p.Ala2272Val)	FBN3 (A2272V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093398	NM_032447.5(FBN3):c.6803G>A (p.Cys2268Tyr)	FBN3 (C2268Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093397	NM_032447.5(FBN3):c.6380C>T (p.Thr2127Ile)	FBN3 (T2127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093396	NM_032447.5(FBN3):c.610G>A (p.Val204Met)	FBN3 (V204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093395	NM_032447.5(FBN3):c.5879T>C (p.Phe1960Ser)	FBN3 (F1960S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093394	NM_032447.5(FBN3):c.5696G>A (p.Arg1899Gln)	FBN3 (R1899Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093392	NM_032447.5(FBN3):c.5558G>C (p.Arg1853Pro)	FBN3 (R1853P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093391	NM_032447.5(FBN3):c.548G>A (p.Arg183Gln)	FBN3 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093390	NM_032447.5(FBN3):c.5438C>T (p.Pro1813Leu)	FBN3 (P1813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093389	NM_032447.5(FBN3):c.4817T>C (p.Ile1606Thr)	FBN3 (I1606T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093388	NM_032447.5(FBN3):c.4466C>A (p.Ala1489Asp)	FBN3 (A1489D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093387	NM_032447.5(FBN3):c.4465G>A (p.Ala1489Thr)	FBN3 (A1489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093386	NM_032447.5(FBN3):c.4441G>A (p.Gly1481Arg)	FBN3 (G1481R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093385	NM_032447.5(FBN3):c.4345T>C (p.Cys1449Arg)	FBN3 (C1449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093384	NM_032447.5(FBN3):c.4198C>T (p.Arg1400Trp)	FBN3 (R1400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093383	NM_032447.5(FBN3):c.3989A>G (p.His1330Arg)	FBN3 (H1330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093382	NM_032447.5(FBN3):c.3901C>A (p.Pro1301Thr)	FBN3 (P1301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093381	NM_032447.5(FBN3):c.3502G>A (p.Val1168Met)	FBN3 (V1168M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093380	NM_032447.5(FBN3):c.3419G>A (p.Cys1140Tyr)	FBN3 (C1140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093379	NM_032447.5(FBN3):c.3400G>A (p.Gly1134Ser)	FBN3 (G1134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093378	NM_032447.5(FBN3):c.3359G>T (p.Ser1120Ile)	FBN3 (S1120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093376	NM_032447.5(FBN3):c.3328G>A (p.Ala1110Thr)	FBN3 (A1110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093375	NM_032447.5(FBN3):c.3306T>G (p.His1102Gln)	FBN3 (H1102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093374	NM_032447.5(FBN3):c.3236C>T (p.Pro1079Leu)	FBN3 (P1079L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093373	NM_032447.5(FBN3):c.3235C>T (p.Pro1079Ser)	FBN3 (P1079S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093371	NM_032447.5(FBN3):c.2707G>A (p.Asp903Asn)	FBN3 (D903N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093370	NM_032447.5(FBN3):c.2515G>A (p.Gly839Arg)	FBN3 (G839R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093369	NM_032447.5(FBN3):c.2386C>T (p.Arg796Trp)	FBN3 (R796W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093368	NM_032447.5(FBN3):c.225C>A (p.Phe75Leu)	FBN3 (F75L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093367	NM_032447.5(FBN3):c.2050A>G (p.Asn684Asp)	FBN3 (N684D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093366	NM_032447.5(FBN3):c.2016T>G (p.Ser672Arg)	FBN3 (S672R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093365	NM_032447.5(FBN3):c.1900C>T (p.Pro634Ser)	FBN3 (P634S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093364	NM_032447.5(FBN3):c.1753G>A (p.Gly585Ser)	FBN3 (G585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093363	NM_032447.5(FBN3):c.1645G>A (p.Glu549Lys)	FBN3 (E549K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093362	NM_032447.5(FBN3):c.1381G>A (p.Gly461Ser)	FBN3 (G461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093361	NM_032447.5(FBN3):c.1160C>T (p.Ala387Val)	FBN3 (A387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049628	NM_032447.5(FBN3):c.7703-10C>T	FBN3	Single nucleotide variant (intron variant)	FBN3-related disorder	GLikely benign
Select item 3044539	NM_032447.5(FBN3):c.1202-5C>T	FBN3	Single nucleotide variant (intron variant)	FBN3-related disorder	GLikely benign
Select item 3043737	NM_032447.5(FBN3):c.6552C>T (p.Thr2184=)	FBN3	Single nucleotide variant (synonymous variant)	FBN3-related disorder	GLikely benign
Select item 3039898	NM_032447.5(FBN3):c.6861C>T (p.Pro2287=)	FBN3	Single nucleotide variant (synonymous variant)	FBN3-related disorder	GLikely benign
Select item 3035389	NM_032447.5(FBN3):c.448A>G (p.Ile150Val)	FBN3 (I150V)	Single nucleotide variant (missense variant)	FBN3-related disorder	GUncertain significance
Select item 3035140	NM_032447.5(FBN3):c.1380C>T (p.His460=)	FBN3	Single nucleotide variant (synonymous variant)	FBN3-related disorder	GLikely benign
Select item 3029104	NM_032447.5(FBN3):c.7744G>A (p.Ala2582Thr)	FBN3 (A2582T)	Single nucleotide variant (missense variant)	FBN3-related disorder	GLikely benign
Select item 3023687	NM_032447.5(FBN3):c.250+16G>A	FBN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023506	NM_032447.5(FBN3):c.6813C>T (p.Thr2271=)	FBN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023297	NM_032447.5(FBN3):c.5538G>A (p.Met1846Ile)	FBN3 (M1846I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022162	NM_032447.5(FBN3):c.880G>A (p.Ala294Thr)	FBN3 (A294T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019158	NM_032447.5(FBN3):c.7602G>T (p.Gly2534=)	FBN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018990	NM_032447.5(FBN3):c.2569C>T (p.Arg857Trp)	FBN3 (R857W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017989	NM_032447.5(FBN3):c.2259dup (p.Gly754fs)	FBN3 (G754fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3016927	NM_032447.5(FBN3):c.8161G>A (p.Glu2721Lys)	FBN3 (E2721K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3016099	NM_032447.5(FBN3):c.5169T>C (p.Asp1723=)	FBN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016058	NM_032447.5(FBN3):c.1202-4G>A	FBN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015801	NM_032447.5(FBN3):c.5403G>C (p.Gly1801=)	FBN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015654	NM_032447.5(FBN3):c.5289T>G (p.Asp1763Glu)	FBN3 (D1763E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014947	NM_032447.5(FBN3):c.4392C>T (p.Pro1464=)	FBN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013654	NM_032447.5(FBN3):c.835C>T (p.Arg279Trp)	FBN3 (R279W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3010929	NM_032447.5(FBN3):c.4456+10T>C	FBN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010557	NM_032447.5(FBN3):c.4144C>T (p.Pro1382Ser)	FBN3 (P1382S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009525	NM_032447.5(FBN3):c.5319C>A (p.Pro1773=)	FBN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009042	NM_032447.5(FBN3):c.5470A>G (p.Thr1824Ala)	FBN3 (T1824A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008197	NM_032447.5(FBN3):c.5927A>G (p.Glu1976Gly)	FBN3 (E1976G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005759	NM_032447.5(FBN3):c.7214-16C>T	FBN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004751	NM_032447.5(FBN3):c.5162-2A>C	FBN3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3003748	NM_032447.5(FBN3):c.5789C>A (p.Thr1930Asn)	FBN3 (T1930N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003652	NM_032447.5(FBN3):c.3580T>C (p.Cys1194Arg)	FBN3 (C1194R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003421	NM_032447.5(FBN3):c.2014A>G (p.Ser672Gly)	FBN3 (S672G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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