CYP2C8[gene] - ClinVar

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Items: 80

	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 3270577	NM_000770.3(CYP2C8):c.1349C>A (p.Thr450Asn)	CYP2C8 (T380N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079524	NM_000770.3(CYP2C8):c.1316G>A (p.Gly439Glu)	CYP2C8 (G369E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693596	NM_000770.3(CYP2C8):c.1292-404G>A	CYP2C8	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 3079523	NM_000770.3(CYP2C8):c.1228G>T (p.Gly410Cys)	CYP2C8 (G308C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079522	NM_000770.3(CYP2C8):c.1224C>A (p.Asp408Glu)	CYP2C8 (D338E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545584	CYP2C8*3	CYP2C8 (K399R +5 more)	Single nucleotide variant (missense variant)	CYP2C8 HAPLOTYPE POLYMORPHISM	GBenign
Select item 375654	NM_000770.3(CYP2C8):c.1196A>G (p.Lys399Arg)	CYP2C8 (K399R +2 more)	Single nucleotide variant (missense variant)	Pulmonary disease, chronic obstructive, susceptibility to +1 more	GBenign; association
Select item 733649	NM_000770.3(CYP2C8):c.1150G>A (p.Gly384Ser)	CYP2C8 (G314S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3049531	NM_000770.3(CYP2C8):c.1093G>A (p.Gly365Ser)	CYP2C8 (G263S +2 more)	Single nucleotide variant (missense variant)	CYP2C8-related disorder	GLikely benign
Select item 775289	NM_000770.3(CYP2C8):c.1059C>T (p.His353=)	CYP2C8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079521	NM_000770.3(CYP2C8):c.1042A>G (p.Thr348Ala)	CYP2C8 (T348A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 78117	NM_000770.3(CYP2C8):c.1026G>A (p.Arg342=)	CYP2C8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3270576	NM_000770.3(CYP2C8):c.985C>T (p.His329Tyr)	CYP2C8 (H227Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600187	NM_000770.3(CYP2C8):c.934C>A (p.Leu312Ile)	CYP2C8 (L210I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305542	NM_000770.3(CYP2C8):c.931C>G (p.Leu311Val)	CYP2C8 (L241V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270575	NM_000770.3(CYP2C8):c.916C>A (p.Leu306Met)	CYP2C8 (L236M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270580	NM_000770.3(CYP2C8):c.907A>T (p.Ser303Cys)	CYP2C8 (S201C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545586	CYP2C8*2	CYP2C8 (I269F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 545585	CYP2C8*4	CYP2C8 (I264M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3079529	NM_000770.3(CYP2C8):c.763C>G (p.Leu255Val)	CYP2C8 (L153V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079528	NM_000770.3(CYP2C8):c.757G>C (p.Ala253Pro)	CYP2C8 (A253P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607011	NM_000770.3(CYP2C8):c.754C>G (p.Gln252Glu)	CYP2C8 (Q150E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243270	NM_000770.3(CYP2C8):c.753C>A (p.His251Gln)	CYP2C8 (H181Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319519	NM_000770.3(CYP2C8):c.742G>A (p.Val248Ile)	CYP2C8 (V178I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270581	NM_000770.3(CYP2C8):c.629C>T (p.Ser210Phe)	CYP2C8 (S210F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283329	NM_000770.3(CYP2C8):c.614T>G (p.Phe205Cys)	CYP2C8 (F135C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234415	NM_000770.3(CYP2C8):c.609A>C (p.Glu203Asp)	CYP2C8 (E133D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270579	NM_000770.3(CYP2C8):c.569A>G (p.Lys190Arg)	CYP2C8 (K120R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079527	NM_000770.3(CYP2C8):c.545T>C (p.Val182Ala)	CYP2C8 (V80A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787628	NM_000770.3(CYP2C8):c.541G>A (p.Val181Ile)	CYP2C8 (V111I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2255325	NM_000770.3(CYP2C8):c.520C>T (p.Pro174Ser)	CYP2C8 (P104S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640707	NM_000770.3(CYP2C8):c.508C>T (p.Leu170=)	CYP2C8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693597	NM_000770.3(CYP2C8):c.482-166A>G	CYP2C8	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 3056915	NM_000770.3(CYP2C8):c.480G>A (p.Lys160=)	CYP2C8	Single nucleotide variant (synonymous variant)	CYP2C8-related disorder	GBenign
Select item 8411	CYP2C8*5	CYP2C8 (T159fs +2 more)	Deletion (frameshift variant)	DRUG METABOLISM, ALTERED, CYP2C8-RELATED	GPathogenic
Select item 765621	NM_000770.3(CYP2C8):c.456T>A (p.Leu152=)	CYP2C8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559398	NM_000770.3(CYP2C8):c.422T>C (p.Ile141Thr)	CYP2C8 (I141T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545635	NM_000770.3(CYP2C8):c.416G>A (p.Arg139Lys)	CYP2C8 (R139K +2 more)	Single nucleotide variant (missense variant)	CYP2C8-related disorder	GBenign
Select item 3044505	NM_000770.3(CYP2C8):c.394C>A (p.Arg132=)	CYP2C8	Single nucleotide variant (synonymous variant)	CYP2C8-related disorder	GLikely benign
Select item 1050506	NM_000770.3(CYP2C8):c.394C>T (p.Arg132Trp)	CYP2C8 (R132W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270578	NM_000770.3(CYP2C8):c.369C>G (p.Ile123Met)	CYP2C8 (I53M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043359	NM_000770.3(CYP2C8):c.332-7_332-6dup	CYP2C8	Duplication (intron variant)	CYP2C8-related disorder	GLikely benign
Select item 2288719	NM_000770.3(CYP2C8):c.223G>A (p.Val75Met)	CYP2C8 (V5M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079526	NM_000770.3(CYP2C8):c.184G>C (p.Gly62Arg)	CYP2C8 (G62R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 402580	NM_000770.3(CYP2C8):c.168+669A>G	CYP2C8	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign
Select item 3079525	NM_000770.3(CYP2C8):c.155A>G (p.Lys52Arg)	CYP2C8 (K52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270574	NM_000770.3(CYP2C8):c.131A>C (p.Gln44Pro)	CYP2C8 (Q44P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211411	NM_000770.3(CYP2C8):c.91C>T (p.Pro31Ser)	CYP2C8 (P31S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2684615	GRCh37/hg19 10q23.33-24.1(chr10:96760412-97021792)x3	ACSM6, CYP2C8 +1 more	Copy number gain	not provided	GUncertain significance
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 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 395647	GRCh37/hg19 10q23.33(chr10:96796795-96805661)x3	CYP2C8	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: 80