C4479496[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1315652	NM_005585.5(SMAD6):c.1296dup (p.Gly433fs)	SMAD6 (G433fs)	Duplication (frameshift variant +1 more)	Craniosynostosis 7 +2 more	GUncertain significance
Select item 1707547	NM_005585.5(SMAD6):c.1412G>T (p.Gly471Val)	SMAD6 (G471V)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis 7	GUncertain significance
Select item 976003	NM_005585.5(SMAD6):c.1419dup (p.Pro474fs)	SMAD6 (P474fs)	Duplication (frameshift variant +1 more)	Craniosynostosis 7 +1 more	GUncertain significance

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