"Institute of Human Genetics, Cologne University"[submitter] AND "FBN1 - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 393275	NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)	FBN1 (G2636S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 590926	NM_000138.5(FBN1):c.7735del (p.His2579fs)	FBN1 (H2579fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 1077159	NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)	FBN1 (C2429Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 3374724	NM_000138.5(FBN1):c.6880G>T (p.Glu2294Ter)	FBN1 (E2294*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 200079	NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)	FBN1 (W2092R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 638269	NM_000138.5(FBN1):c.6070dup (p.Cys2024fs)	FBN1 (C2024fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 800490	NM_000138.5(FBN1):c.6067del (p.Ile2023fs)	FBN1 (I2023fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3237352	NM_000138.5(FBN1):c.6037G>A (p.Asp2013Asn)	FBN1 (D2013N)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
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 870137	NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)	FBN1 (C1497S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 691636	NM_000138.5(FBN1):c.4319del (p.Asp1440fs)	FBN1, LOC126862124 (D1440fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 2683903	NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)	FBN1 (T1371A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 1335895	NM_000138.5(FBN1):c.3508del (p.Arg1170fs)	FBN1 (R1170fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 549140	NM_000138.5(FBN1):c.3209-7T>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 446121	NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe)	FBN1 (C628F)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 3235258	NM_000138.5(FBN1):c.1589-13A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 2664316	NM_000138.5(FBN1):c.1589-1217G>T	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely pathogenic
Select item 3235257	NM_000138.5(FBN1):c.168dup (p.Asn57fs)	FBN1 (N57fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic