"GeneDx"[submitter] AND "OSBP2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1261963	NM_030758.4(OSBP2):c.984T>C (p.Ala328=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1280755	NM_030758.4(OSBP2):c.2658T>C (p.Asp886=)	LOC107985544, OSBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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