C3541518[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 16437	NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1 (E2447K)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GPathogenic/Likely pathogenic
Select item 36082	NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	FBN1 (R1596*)	Single nucleotide variant (nonsense)	Marfan syndrome +9 more	GPathogenic
Select item 521833	NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)	FBN1 (G1353R)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 1029663	NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)	FBN1 (S438C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance

ClinVar