C0024796[trait identifier] AND "ClinGen FBN1 Variant Curation Expert P - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263414	NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)	FBN1 (Q2830*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 547349	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	FBN1 (I2806fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 42443	NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)	FBN1 (Y2793C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 263832	NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)	FBN1 (T2788M)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 16439	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1 (R2776*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 163461	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1 (R2694*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 549451	NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)	FBN1	Indel	Marfan syndrome	GPathogenic FDA Recognized database
Select item 381609	NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)	FBN1 (G2668C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 42436	NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)	FBN1 (C2631Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 423498	NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)	FBN1 (C2592F)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 36118	NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	FBN1 (R2576C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 626877	NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)	FBN1 (C2550S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2413174	NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)	FBN1 (F2548Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 200198	NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)	FBN1 (N2526S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2506018	NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)	FBN1 (G2514*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 178034	NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	FBN1 (G2514R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 1098776	NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)	FBN1 (C2470F)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 636961	NM_000138.5(FBN1):c.7330+3_7330+6del	FBN1	Deletion (splice donor variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2581044	NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)	FBN1	Deletion (inframe_deletion)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 549394	NM_000138.5(FBN1):c.7204+1G>T	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 42420	NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)	FBN1 (C2390fs)	Microsatellite (frameshift variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 495644	NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)	FBN1 (C2339Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 200100	NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)	FBN1 (R2335W)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 632813	NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)	FBN1 (C2289S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 222610	NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)	FBN1 (C2274R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 384344	NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)	FBN1 (R2242C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 492830	NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)	FBN1 (C2221Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 429425	NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)	FBN1 (C2181R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2413172	NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)	FBN1 (E2169*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 547340	NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)	FBN1 (C2164Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 200193	NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 200084	NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)	FBN1 (R2150C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 42402	NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)	FBN1 (Y2149C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 633211	NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)	FBN1 (C2137Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 547338	NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)	FBN1 (C2085Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 618119	NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)	FBN1 (Y2062C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 200167	NM_000138.5(FBN1):c.6163+2dup	FBN1	Duplication (splice donor variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 263898	NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)	FBN1 (C2011Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 638559	NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)	FBN1 (C1989F)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 570737	NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)	FBN1 (Y1962C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 547334	NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)	FBN1 (C1942*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 42391	NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)	FBN1 (C1916Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 495629	NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)	FBN1 (R1915C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 2506004	NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)	FBN1 (F1912del)	Deletion (inframe_deletion)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 632819	NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)	FBN1 (C1853Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 519783	NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)	FBN1 (R1840C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 200064	NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)	FBN1 (G1815S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 520496	NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)	FBN1 (R1692del)	Microsatellite (inframe_deletion)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 519760	NM_000138.5(FBN1):c.5065+2dup	FBN1	Duplication (splice donor variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 626879	NM_000138.5(FBN1):c.4700del (p.Gly1567fs)	FBN1 (G1567fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 42367	NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)	FBN1 (T1547I)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 406332	NM_000138.5(FBN1):c.4583-5A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 180355	NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)	FBN1 (Y1509C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 373598	NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)	FBN1 (N1489S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 549232	NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)	FBN1 (D1487N)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 549229	NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)	FBN1 (C1472R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 495609	NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)	FBN1	Duplication (inframe_insertion)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 1325422	NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)	FBN1 (C1470Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 155793	NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)	FBN1 (R1469C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 222604	NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	FBN1, LOC126862124 (C1444S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 449440	NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)	FBN1, LOC126862124 (Y1427C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2413173	NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter)	FBN1, LOC126862124 (Q1419*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 200041	NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)	FBN1, LOC126862124 (L1405R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 2413170	NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)	FBN1	Deletion (inframe_deletion +1 more)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 626882	NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)	FBN1 (C1361R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 200022	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1 (D1238N)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 495599	NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)	FBN1 (C1236Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 263789	NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)	FBN1 (M1230T)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely benign FDA Recognized database
Select item 495598	NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)	FBN1 (G1226V)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 549180	NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)	FBN1 (G1217D)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 549178	NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)	FBN1 (F1211del)	Deletion (inframe_deletion)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2581043	NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)	FBN1 (C1201*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 42339	NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)	FBN1 (D1197N)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 495594	NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)	FBN1 (Y1186C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 549173	NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	FBN1 (G1185D)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 549169	NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)	FBN1 (R1170C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 547309	NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)	FBN1 (C1159Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 263660	NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)	FBN1 (C1153R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 617874	NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	FBN1 (G1143D)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 42334	NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)	FBN1 (P1141L)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 928903	NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)	FBN1 (R1137C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 549150	NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)	FBN1 (C1097Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 42325	NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)	FBN1 (T1020A)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely benign FDA Recognized database
Select item 36060	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	FBN1 (A986T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 431935	NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)	FBN1 (C890Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 915814	NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)	FBN1 (C887Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 264089	NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)	FBN1 (C875Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2413175	NM_000138.5(FBN1):c.2364dup (p.Val789fs)	FBN1 (V789fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 549070	NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)	FBN1 (C763G)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 519758	NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)	FBN1 (C763R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2413171	NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)	FBN1 (T679fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 495563	NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)	FBN1 (C617Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 439709	NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)	FBN1 (R609C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 956400	NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)	FBN1 (C570R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 36034	NM_000138.5(FBN1):c.1634G>A (p.Arg545His)	FBN1 (R545H)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 495558	NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)	FBN1 (G544R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 549024	NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)	FBN1 (Y519C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 406288	NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)	FBN1 (C513F)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 502478	NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)	FBN1 (C494S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database

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