"PreventionGenetics, part of Exact Sciences"[submitter] AND "OSBPL2"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053839	NM_144498.4(OSBPL2):c.37+9_37+13del	OSBPL2	Deletion (intron variant)	OSBPL2-related disorder	GLikely benign
Select item 1190938	NM_144498.4(OSBPL2):c.258+9G>A	OSBPL2	Single nucleotide variant (intron variant)	OSBPL2-related disorder +1 more	GLikely benign
Select item 3034816	NM_144498.4(OSBPL2):c.276G>A (p.Thr92=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	OSBPL2-related disorder	GLikely benign
Select item 667138	NM_144498.4(OSBPL2):c.429C>G (p.Ser143=)	OSBPL2	Single nucleotide variant (synonymous variant)	OSBPL2-related disorder +2 more	GLikely benign
Select item 1216995	NM_144498.4(OSBPL2):c.537C>T (p.His179=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 515079	NM_144498.4(OSBPL2):c.660C>T (p.Thr220=)	OSBPL2	Single nucleotide variant (synonymous variant)	OSBPL2-related disorder +1 more	GLikely benign
Select item 667056	NM_144498.4(OSBPL2):c.792T>G (p.His264Gln)	OSBPL2 (H252Q +2 more)	Single nucleotide variant (missense variant)	OSBPL2-related disorder +2 more	GBenign
Select item 2187808	NM_144498.4(OSBPL2):c.1038C>T (p.Asp346=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636685	NM_144498.4(OSBPL2):c.1228G>A (p.Gly410Ser)	OSBPL2 (G318S +2 more)	Single nucleotide variant (missense variant +1 more)	OSBPL2-related disorder	GUncertain significance
Select item 508711	NM_144498.4(OSBPL2):c.1341-6C>T	OSBPL2	Single nucleotide variant (intron variant)	OSBPL2-related disorder +2 more	GBenign
Select item 930115	NM_144498.4(OSBPL2):c.*23C>G	OSBPL2 (R356G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign