"MVZ Medizinische Genetik Mainz"[submitter] AND "FBN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236156	NM_000138.5(FBN1):c.8226G>A (p.Glu2742=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GUncertain significance
Select item 3236095	NM_000138.5(FBN1):c.6442T>C (p.Ser2148Pro)	FBN1 (S2148P)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3066266	NM_000138.5(FBN1):c.5620T>C (p.Cys1874Arg)	FBN1 (C1874R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 3068333	NM_000138.5(FBN1):c.811T>A (p.Cys271Ser)	FBN1 (C271S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3236368	NM_000138.5(FBN1):c.512G>A (p.Gly171Glu)	FBN1 (G171E)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3235976	NM_000138.5(FBN1):c.347-1G>C	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GLikely pathogenic

ClinVar