"Centre for Genomic and Experimental Medicine, University of Edinburgh - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517128	NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)	FBN1 (L2836fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 517125	NM_000138.5(FBN1):c.7956T>A (p.Cys2652Ter)	FBN1 (C2652*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517133	NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)	FBN1 (Y2596*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Marfan syndrome +4 more	GPathogenic
Select item 517117	NM_000138.5(FBN1):c.6402dup (p.Asp2135fs)	FBN1 (D2135fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517120	NM_000138.5(FBN1):c.5917+6T>C	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 517116	NM_000138.5(FBN1):c.5235_5236dup (p.Thr1746fs)	FBN1 (T1746fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 42361	NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)	FBN1 (R1469P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 36064	NM_000138.5(FBN1):c.3193del (p.Glu1065fs)	FBN1 (E1065fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42324	NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)	FBN1 (Y1004*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 517122	NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)	FBN1 (E966*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 200001	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1 (A882V)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 265401	NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	FBN1 (R861*)	Single nucleotide variant (nonsense)	Isolated thoracic aortic aneurysm +12 more	GPathogenic/Likely pathogenic
Select item 517123	NM_000138.5(FBN1):c.2554_2555dup (p.Cys853fs)	FBN1 (C853fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 199995	NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)	FBN1 (C769Y)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +2 more	GPathogenic/Likely pathogenic
Select item 517130	NM_000138.5(FBN1):c.2168-1G>T	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 42284	NM_000138.5(FBN1):c.1468+5G>A	FBN1	Single nucleotide variant (intron variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GPathogenic/Likely pathogenic
Select item 517124	NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp)	FBN1 (C474W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 199963	NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	LOC113939944, FBN1 (R364*)	Single nucleotide variant (nonsense)	Marfan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 517135	NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr)	FBN1 (C209Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 161245	NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	FBN1, LOC130057019 (Y20C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database

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Items: 21