"3billion"[submitter] AND "SMAD6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174567	NM_005585.5(SMAD6):c.269dup (p.Arg91fs)	SMAD6 (R91fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 644007	NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)	SMAD6 (Y177*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity