ClinVar for Gene (Select 1562) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270570	NM_000772.3(CYP2C18):c.414G>C (p.Lys138Asn)	CYP2C18 (K138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270569	NM_000772.3(CYP2C18):c.1096C>G (p.Leu366Val)	CYP2C18 (L307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270568	NM_000772.3(CYP2C18):c.520C>A (p.Pro174Thr)	CYP2C18 (P174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270567	NM_000772.3(CYP2C18):c.500C>T (p.Thr167Ile)	CYP2C18 (T167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270566	NM_000772.3(CYP2C18):c.1048G>C (p.Ala350Pro)	CYP2C18 (A291P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079514	NM_000772.3(CYP2C18):c.882G>A (p.Met294Ile)	CYP2C18 (M294I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079513	NM_000772.3(CYP2C18):c.718A>G (p.Ile240Val)	CYP2C18 (I240V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079512	NM_000772.3(CYP2C18):c.592A>C (p.Met198Leu)	CYP2C18 (M198L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079511	NM_000772.3(CYP2C18):c.448C>T (p.Arg150Cys)	CYP2C18 (R150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079510	NM_000772.3(CYP2C18):c.277G>A (p.Glu93Lys)	CYP2C18 (E93K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079509	NM_000772.3(CYP2C18):c.1432C>T (p.Arg478Cys)	CYP2C18 (R419C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079508	NM_000772.3(CYP2C18):c.1220T>A (p.Phe407Tyr)	CYP2C18 (F407Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079507	NM_000772.3(CYP2C18):c.1211C>G (p.Pro404Arg)	CYP2C18 (P404R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079506	NM_000772.3(CYP2C18):c.1072T>C (p.Tyr358His)	CYP2C18 (Y299H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079505	NM_000772.3(CYP2C18):c.1070G>A (p.Arg357Lys)	CYP2C18 (R298K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079504	NM_000772.3(CYP2C18):c.1060G>A (p.Glu354Lys)	CYP2C18 (E295K +1 more)	Single nucleotide variant (missense variant)	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 2684614	GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3	ACSM6, ALDH18A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 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 2640705	NM_000772.3(CYP2C18):c.627C>T (p.Ser209=)	CYP2C18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620694	NM_000772.3(CYP2C18):c.131A>T (p.Gln44Leu)	CYP2C18 (Q44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619034	NM_000772.3(CYP2C18):c.1076T>C (p.Ile359Thr)	CYP2C18 (I300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611854	NM_000772.3(CYP2C18):c.224T>C (p.Val75Ala)	CYP2C18 (V75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599498	NM_000772.3(CYP2C18):c.908G>A (p.Ser303Asn)	CYP2C18 (S244N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597263	NM_000772.3(CYP2C18):c.1378T>C (p.Ser460Pro)	CYP2C18 (S401P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2509392	NM_000772.3(CYP2C18):c.605A>G (p.Asn202Ser)	CYP2C18 (N202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496508	NM_000772.3(CYP2C18):c.865G>A (p.Ala289Thr)	CYP2C18 (A289T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491744	NM_000772.3(CYP2C18):c.705A>C (p.Glu235Asp)	CYP2C18 (E235D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2409930	NM_000772.3(CYP2C18):c.424G>A (p.Glu142Lys)	CYP2C18 (E142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324211	NM_000772.3(CYP2C18):c.769A>G (p.Met257Val)	CYP2C18 (M257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316422	NM_000772.3(CYP2C18):c.1390C>A (p.Pro464Thr)	CYP2C18 (P464T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289342	NM_000772.3(CYP2C18):c.796T>C (p.Cys266Arg)	CYP2C18 (C266R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282026	NM_000772.3(CYP2C18):c.323A>C (p.Lys108Thr)	CYP2C18 (K108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248445	NM_000772.3(CYP2C18):c.557G>A (p.Arg186Gln)	CYP2C18 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242883	NM_000772.3(CYP2C18):c.1218G>A (p.Met406Ile)	CYP2C18 (M406I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2234324	NM_000772.3(CYP2C18):c.465G>T (p.Glu155Asp)	CYP2C18 (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218657	NM_000772.3(CYP2C18):c.572A>G (p.Asp191Gly)	CYP2C18 (D191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206825	NM_000772.3(CYP2C18):c.722A>G (p.Lys241Arg)	CYP2C18 (K241R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 786173	NM_000772.3(CYP2C18):c.1179T>C (p.Ser393=)	CYP2C18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786172	NM_000772.3(CYP2C18):c.988G>T (p.Val330Leu)	CYP2C18 (V330L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786171	NM_000772.3(CYP2C18):c.669C>T (p.Ile223=)	CYP2C18	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713980	NM_000772.3(CYP2C18):c.1325G>T (p.Arg442Leu)	CYP2C18 (R442L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713979	NM_000772.3(CYP2C18):c.896C>T (p.Thr299Ile)	CYP2C18 (T299I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712598	NM_000772.3(CYP2C18):c.495T>C (p.Asp165=)	CYP2C18	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 563714	GRCh37/hg19 10q23.33(chr10:96339490-96546534)x1	CYP2C19, CYP2C18 +1 more	Copy number loss	not provided	GUncertain significance
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 395180	GRCh37/hg19 10q23.33(chr10:96446525-96494686)x1	CYP2C18	Copy number loss	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
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 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 147661	GRCh38/hg38 10q23.33(chr10:94694073-94853007)x1	CYP2C18, CYP2C19 +2 more	Copy number loss	See cases	GBenign
Select item 145855	GRCh38/hg38 10q23.33(chr10:94647983-94760469)x1	CYP2C18, LOC111982881	Copy number loss	See cases	GLikely benign
Select item 145386	GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1	ACSM6, CYP2C18 +32 more	Copy number loss	See cases	GUncertain significance
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 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 74