CYP2C9[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 145386	GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1	ACSM6, CYP2C18 +32 more	Copy number loss	See cases	GUncertain significance
Select item 153831	GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3	ACSM6, CYP2C18 +45 more	Copy number gain	See cases	GUncertain significance
Select item 148908	GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3	ACSM6, CYP2C18 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57474	GRCh38/hg38 10q23.33-24.1(chr10:94872737-95346558)x3	ACSM6, CYP2C8 +28 more	Copy number gain	See cases	GUncertain significance
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 3376535	NM_000771.4(CYP2C9):c.356A>G (p.Lys119Arg)	CYP2C9 (K119R)	Single nucleotide variant (missense variant)	Warfarin response	Gdrug response
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 177709	NM_000771.3(CYP2C9):c.[430C>T;1075A=]	CYP2C9 (R144C)	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 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)	Piroxicam response +3 more	GBenign/Likely benign; drug response
Select item 3376534	NM_000771.4(CYP2C9):c.470G>A (p.Arg157Lys)	CYP2C9 (R157K)	Single nucleotide variant (missense variant)	Warfarin response	Gdrug 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)	Piroxicam response +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 163021	NM_000771.3(CYP2C9):c.[430C=;1075A>C]	CYP2C9 (I359L)	Single nucleotide variant (missense variant +1 more)	Warfarin response	Gdrug response
Select item 8408	CYP2C9*3	CYP2C9 (I359L)	Single nucleotide variant (missense variant)	Flurbiprofen response +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
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063150	GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684614	GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3	ACSM6, ALDH18A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1808831	GRCh37/hg19 10q23.33-24.1(chr10:96155285-97224160)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 1341260	GRCh37/hg19 10q23.33-24.1(chr10:96136737-97224160)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979283	GRCh37/hg19 10q23.33-24.1(chr10:96140621-97222801)x3	CYP2C8, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688770	GRCh37/hg19 10q23.33-24.1(chr10:96711444-97306336)x3	ACSM6, CYP2C8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 547146	GRCh37/hg19 10q23.33(chr10:96575687-96711450)x3	CYP2C19, CYP2C9	Copy number gain	not provided	GLikely benign
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 395077	GRCh37/hg19 10q23.33(chr10:96522575-96702831)x3	CYP2C19, CYP2C9	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 72