"deCODE genetics, Amgen"[submitter] AND "FBN1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498338	NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)	FBN1 (G2802V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 263433	NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)	FBN1 (E2717*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 200127	NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	FBN1 (R2680C)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2498344	NM_000138.5(FBN1):c.7699+2T>C	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome	GPathogenic
Select item 2498340	NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)	FBN1 (E2248del)	Deletion (inframe_indel +1 more)	Marfan syndrome	GLikely pathogenic
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 2574104	NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)	FBN1 (G2114*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 42394	NM_000138.5(FBN1):c.5788+5G>A	FBN1	Single nucleotide variant (intron variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +4 more	GPathogenic/Likely pathogenic
Select item 2574103	NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)	FBN1 (V1756A)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2498341	NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)	FBN1, LOC126862124 (D1404G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2498342	NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)	FBN1 (T1362S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2574101	NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)	FBN1 (H1336fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
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 2574100	NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)	FBN1 (E1003*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 495582	NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)	FBN1 (R954C)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1485695	NM_000138.5(FBN1):c.2855-2A>G	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
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 2498343	NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)	FBN1 (R539Q)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely benign
Select item 2498339	NM_000138.5(FBN1):c.1464dup (p.Ile489fs)	FBN1 (I489fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic