CYP2C9[gene] and "single gene"[properties] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270585	NM_000771.4(CYP2C9):c.29G>A (p.Cys10Tyr)	CYP2C9 (C10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287431	NM_000771.4(CYP2C9):c.43C>A (p.Leu15Ile)	CYP2C9 (L15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604717	NM_000771.4(CYP2C9):c.103C>T (p.Pro35Ser)	CYP2C9 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289670	NM_000771.4(CYP2C9):c.239A>T (p.Tyr80Phe)	CYP2C9 (Y80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289671	NM_000771.4(CYP2C9):c.250A>G (p.Lys84Glu)	CYP2C9 (K84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755270	NM_000771.4(CYP2C9):c.264T>C (p.Ile88=)	CYP2C9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488190	NM_000771.4(CYP2C9):c.266A>G (p.Asp89Gly)	CYP2C9 (D89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1167372	NM_000771.4(CYP2C9):c.374G>A (p.Arg125His)	CYP2C9 (R125H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 242622	NM_000771.4(CYP2C9):c.430= (p.Arg144=)	CYP2C9	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 8409	CYP2C9*2	CYP2C9 (R144C)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign; drug response; other
Select item 226024	CYP2C9*8	CYP2C9 (R150H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign; drug response
Select item 2283545	NM_000771.4(CYP2C9):c.546T>G (p.Ile182Met)	CYP2C9 (I182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8410	NM_000771.4(CYP2C9):c.622T>G (p.Leu208Val)	CYP2C9 (L208V)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 3079531	NM_000771.4(CYP2C9):c.631C>T (p.Pro211Ser)	CYP2C9 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773002	NM_000771.4(CYP2C9):c.752A>G (p.His251Arg)	CYP2C9 (H251R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3079532	NM_000771.4(CYP2C9):c.776A>G (p.Asn259Ser)	CYP2C9 (N259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285601	CYP2C9*6	CYP2C9 (K273fs)	Deletion (frameshift variant)	Flurbiprofen response +3 more	GBenign/Likely benign; drug response; other
Select item 2529625	NM_000771.4(CYP2C9):c.890C>T (p.Ala297Val)	CYP2C9 (A297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270586	NM_000771.4(CYP2C9):c.899A>T (p.Glu300Val)	CYP2C9 (E300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240869	NM_000771.4(CYP2C9):c.907A>G (p.Ser303Gly)	CYP2C9 (S303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270582	NM_000771.4(CYP2C9):c.926C>T (p.Ala309Val)	CYP2C9 (A309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693614	NM_000771.4(CYP2C9):c.961+729T>G	CYP2C9	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 370010	CYP2C9*11	CYP2C9 (R335W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign; drug response
Select item 2532308	NM_000771.4(CYP2C9):c.1031A>T (p.His344Leu)	CYP2C9 (H344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242623	NM_000771.4(CYP2C9):c.1075= (p.Ile359=)	CYP2C9	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 8408	CYP2C9*3	CYP2C9 (I359L)	Single nucleotide variant (missense variant)	not provided +3 more	Gdrug response; other
Select item 225984	CYP2C9*5	CYP2C9 (D360E)	Single nucleotide variant (missense variant)	Flurbiprofen response +3 more	GBenign/Likely benign; drug response; other
Select item 3079530	NM_000771.4(CYP2C9):c.1094G>T (p.Ser365Ile)	CYP2C9 (S365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693598	NM_000771.4(CYP2C9):c.1150-1847G>A	CYP2C9	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2263897	NM_000771.4(CYP2C9):c.1157C>A (p.Thr386Asn)	CYP2C9 (T386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735596	NM_000771.4(CYP2C9):c.1308G>T (p.Val436=)	CYP2C9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776530	NM_000771.4(CYP2C9):c.1323C>T (p.Ala441=)	CYP2C9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270583	NM_000771.4(CYP2C9):c.1327A>G (p.Met443Val)	CYP2C9 (M443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248533	NM_000771.4(CYP2C9):c.1402G>C (p.Asp468His)	CYP2C9 (D468H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050409	NM_000771.4(CYP2C9):c.1432T>A (p.Ser478Thr)	CYP2C9 (S478T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 35