ClinVar for MedGen (Select 482413) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671924	NM_006079.5(CITED2):c.388C>T (p.Pro130Ser)	CITED2 (P130S +1 more)	Single nucleotide variant (missense variant)	Ventricular septal defect 2	GUncertain significance
Select item 6721	NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1])	CITED2, LOC129997307	Deletion (inframe_deletion)	Ventricular septal defect 2	GPathogenic