"Center for Medical Genetics Ghent, University of Ghent"[submitter] AN - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263831	NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)	FBN1, LOC126862124 (C1444Y)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm +2 more	GPathogenic/Likely pathogenic
Select item 42356	NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	FBN1, LOC126862124 (V1436M)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 549220	NM_000138.5(FBN1):c.4301_4302insAG (p.Phe1435fs)	FBN1, LOC126862124 (F1435fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549221	NM_000138.5(FBN1):c.4301del (p.Gly1434fs)	FBN1, LOC126862124 (G1434fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 457207	NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)	FBN1, LOC126862124 (C1431W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 457201	NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)	FBN1, LOC126862124 (C1431*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 549219	NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)	FBN1, LOC126862124 (C1431Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 549217	NM_000138.5(FBN1):c.4287_4288del (p.Cys1429_Glu1430delinsTer)	FBN1, LOC126862124	Microsatellite (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 549218	NM_000138.5(FBN1):c.4287T>G (p.Cys1429Trp)	FBN1, LOC126862124 (C1429W)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 549216	NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr)	FBN1, LOC126862124 (C1429Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 549215	NM_000138.5(FBN1):c.4285T>A (p.Cys1429Ser)	FBN1, LOC126862124 (C1429S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 42355	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	FBN1, LOC126862124 (P1424A)	Single nucleotide variant (missense variant)	Marfan syndrome +12 more	GConflicting classifications of pathogenicity
Select item 427006	NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe)	FBN1, LOC126862124 (C1420F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42354	NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)	FBN1, LOC126862124 (C1420Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549213	NM_000138.5(FBN1):c.4245T>C (p.Cys1415=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 519707	NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)	LOC126862124, FBN1 (C1415R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 42351	NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)	FBN1, LOC126862124 (C1408R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic
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