"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "OSBP2"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788933	NM_030758.4(OSBP2):c.75G>C (p.Thr25=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712285	NM_030758.4(OSBP2):c.369A>G (p.Ala123=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788839	NM_030758.4(OSBP2):c.409C>T (p.Leu137Phe)	OSBP2 (L137F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777683	NM_030758.4(OSBP2):c.990C>T (p.Leu330=)	OSBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 784559	NM_030758.4(OSBP2):c.1476+13dup	LOC107985544, OSBP2	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 709619	NM_030758.4(OSBP2):c.1476+9G>C	LOC107985544, OSBP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 717865	NM_030758.4(OSBP2):c.1752T>C (p.Ser584=)	LOC107985544, OSBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775453	NM_030758.4(OSBP2):c.2018G>C (p.Ser673Thr)	LOC107985544, OSBP2 (S673T +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785684	NM_030758.4(OSBP2):c.2558G>A (p.Arg853His)	LOC107985544, OSBP2 (R595H +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance