"Suma Genomics"[submitter] AND "FBN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 439719	NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr)	FBN1 (C1928Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 29697	NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)	FBN1 (G1762S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic
Select item 1120214	NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter)	FBN1 (S606*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 180352	NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	FBN1 (R545C)	Single nucleotide variant (missense variant)	not specified +11 more	GPathogenic
Select item 1120215	NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)	FBN1 (C499G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 1341359	NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)	FBN1 (L199F)	Single nucleotide variant (missense variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome +7 more	GUncertain significance

ClinVar