C0024796[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 934403	NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg)	FBN1 (C1928R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549194	NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)	FBN1 (Y1311C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3220890	NM_000138.5(FBN1):c.3464-8C>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 177648	NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	FBN1 (G1013R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 666430	Single allele	CTXN2, DUT +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 1712293	t(9;15)(p13.3;q21.1)	FBN1	Translocation	Marfan syndrome	GPathogenic

ClinVar