C4551902[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458686	NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic
Select item 973874	NM_000474.4(TWIST1):c.321dup (p.Thr108fs)	TWIST1 (T108fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 55924	NM_006494.4(ERF):c.891_892del (p.Gly299fs)	ERF (G299fs +1 more)	Deletion (frameshift variant)	See cases +4 more	GPathogenic/Likely pathogenic

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