ClinVar for MedGen (Select 148193) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692018	NM_024006.6(VKORC1):c.196G>A (p.Val66Met)	VKORC1 (V66M)	Single nucleotide variant (missense variant +1 more)	Warfarin response +1 more	GConflicting classifications of pathogenicity
Select item 666796	NM_000041.2:c.[388T>C];[526C>T]			not specified	GUncertain significance
Select item 619953	NC_000019.10:g.44911194T>C	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 619951	NC_000019.10:g.44905579T>G	APOE	Single nucleotide variant	Warfarin response	Gdrug response
Select item 441269	NM_000041.3(APOE):c.[305C>G;388T>C]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	APOE5 VARIANT	Gassociation
Select item 441268	NM_000041.3(APOE):c.[137T>C;388T>C]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 441267	NM_000041.3(APOE):c.[388T>C;805C>G]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 441266	NM_000041.3(APOE):c.[526C>T;761T>A]	APOE (R176C +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 441265	NM_000041.3(APOE):c.[526C>T;725G>A]	APOE (R176C +2 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 441262	NM_000041.3(APOE):c.[434G>A;526C>T]	APOE (R176C +3 more)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia due to APOE1	GPathogenic
Select item 440870	NM_000041.3(APOE):c.[388T>C;478C>T]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 255979	NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)	APOB (R532W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 177709	NM_000771.3(CYP2C9):c.[430C>T;1075A=]	CYP2C9 (R144C)	Single nucleotide variant (missense variant +1 more)	Warfarin response	Gdrug response
Select item 166563	NM_024006.4(VKORC1):c.-1639G=	VKORC1	Single nucleotide variant	Warfarin response	Gdrug response
Select item 163021	NM_000771.3(CYP2C9):c.[430C=;1075A>C]	CYP2C9 (I359L)	Single nucleotide variant (missense variant +1 more)	Warfarin response	Gdrug response
Select item 163020	NM_000771.3(CYP2C9):c.[430C=;1075A=]	CYP2C9	Single nucleotide variant (no sequence alteration)	Warfarin response	Gdrug response
Select item 128425	NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 128422	NM_000384.3(APOB):c.293C>T (p.Thr98Ile)	APOB (T98I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 128420	NM_000384.3(APOB):c.1853C>T (p.Ala618Val)	APOB (A618V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 128418	NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)	APOB (S4338N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 60671	NM_024006.5(VKORC1):c.-226-1362dupG	VKORC1	Duplication	Warfarin response	Gdrug response
Select item 37344	NM_024006.6(VKORC1):c.174-136C>T	VKORC1	Single nucleotide variant (intron variant)	phenprocoumon response - Dosage +2 more	Gdrug response
Select item 17864	NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	APOE (C130R +1 more)	Single nucleotide variant (missense variant)	Primary degenerative dementia of the Alzheimer type, presenile onset +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 16973	CYP2A6*12A	CYP2A6, CYP2A7 +1 more	Deletion	Warfarin response +1 more	Gdrug response
Select item 16969	NM_000762.5(CYP2A6):c.479T>A (p.Leu160His)	CYP2A6 (L160H)	Single nucleotide variant (missense variant)	Warfarin response +1 more	Gdrug response
Select item 8410	NM_000771.4(CYP2C9):c.622T>G (p.Leu208Val)	CYP2C9 (L208V)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 8409	CYP2C9*2	CYP2C9 (R144C)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign; drug response; other
Select item 8408	CYP2C9*3	CYP2C9 (I359L)	Single nucleotide variant (missense variant)	not provided +3 more	Gdrug response; other
Select item 2212	NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)	VKORC1 (D36Y)	Single nucleotide variant (missense variant)	warfarin response - Dosage	Gdrug response
Select item 2211	NM_024006.4(VKORC1):c.-1639G>A	VKORC1	Single nucleotide variant	phenprocoumon response - Toxicity +5 more	Gdrug response
Select item 2210	NM_024006.6(VKORC1):c.383T>G (p.Leu128Arg)	VKORC1 (L128R +1 more)	Single nucleotide variant (missense variant +1 more)	Warfarin response	Gdrug response
Select item 2209	NM_024006.6(VKORC1):c.172A>G (p.Arg58Gly)	VKORC1 (R58G)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 2208	NM_024006.6(VKORC1):c.134T>C (p.Val45Ala)	VKORC1 (V45A)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 2207	NM_024006.6(VKORC1):c.85G>T (p.Val29Leu)	VKORC1 (V29L)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic

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Items: 36