Related gene-specific medical variations for Gene (Select 84467) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242719	NC_000019.9:g.(?_8152689)_(8155155_?)dup	FBN3	Duplication	not provided	GUncertain significance
Select item 3242718	NC_000019.9:g.(?_8170972)_(8177003_?)del	FBN3	Deletion	not provided	GUncertain significance
Select item 3242717	NC_000019.9:g.(?_8197848)_(8198010_?)del	FBN3	Deletion	not provided	GUncertain significance
Select item 1330498	NM_032447.5(FBN3):c.7170T>A (p.Cys2390Ter)	FBN3 (C2390*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 623924	NM_032447.5(FBN3):c.8065C>T (p.Arg2689Cys)	FBN3 (R2689C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590954	GRCh37/hg19 19p13.2(chr19:8213468-8227432)	FBN3	Copy number gain	Aortic valve disease 1	GUncertain significance

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