"MVZ Medizinische Genetik Mainz"[submitter] AND "SMAD6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236099	NM_005585.5(SMAD6):c.157G>T (p.Gly53Ter)	SMAD6 (G53*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3256710	NM_005585.5(SMAD6):c.792C>G (p.Tyr264Ter)	SMAD6 (Y264*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3061860	NM_005585.5(SMAD6):c.793C>G (p.His265Asp)	SMAD6 (H265D)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis 7 +1 more	GUncertain significance

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