C0750384[trait identifier] AND "Pharmacogenomics Lab, Chungbuk Nationa - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128418	NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)	APOB (S4338N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign
Select item 128425	NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +6 more	GBenign
Select item 128420	NM_000384.3(APOB):c.1853C>T (p.Ala618Val)	APOB (A618V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign/Likely benign
Select item 255979	NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)	APOB (R532W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 128422	NM_000384.3(APOB):c.293C>T (p.Thr98Ile)	APOB (T98I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GBenign/Likely benign
Select item 8408	CYP2C9*3	CYP2C9 (I359L)	Single nucleotide variant (missense variant)	not provided +3 more	Gdrug response; other
Select item 37344	NM_024006.6(VKORC1):c.174-136C>T	VKORC1	Single nucleotide variant (intron variant)	warfarin response - Dosage +2 more	Gdrug response
Select item 619951	NC_000019.10:g.44905579T>G	APOE	Single nucleotide variant	Warfarin response	Gdrug response
Select item 619952	NM_000041.4(APOE):c.43+520G>A	APOE	Single nucleotide variant (intron variant)	Warfarin response	Gdrug response
Select item 17864	NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	APOE (C130R +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +4 more	GConflicting classifications of pathogenicity; other; risk factor
Select item 17848	NM_000041.2(APOE):c.526C>T (p.Arg176Cys)	APOE (R176C +1 more)	Single nucleotide variant (missense variant)	atorvastatin response - Efficacy	Gdrug response
Select item 619953	NC_000019.10:g.44911194T>C	APOE	Single nucleotide variant	Warfarin response	Gdrug response