CCAR1[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145589	GRCh38/hg38 10q21.3-22.1(chr10:68543815-68977524)x1	CCAR1, DDX21 +29 more	Copy number loss	See cases	GUncertain significance
Select item 2595802	NM_018237.4(CCAR1):c.121A>G (p.Ile41Val)	CCAR1 (I41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532875	NM_018237.4(CCAR1):c.457G>A (p.Val153Met)	CCAR1 (V153M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263740	NM_018237.4(CCAR1):c.668C>G (p.Pro223Arg)	CCAR1 (P223R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138183	NM_018237.4(CCAR1):c.753G>C (p.Gln251His)	CCAR1 (Q236H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601421	NM_018237.4(CCAR1):c.865C>T (p.Pro289Ser)	CCAR1 (P274S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263738	NM_018237.4(CCAR1):c.899G>A (p.Arg300Gln)	CCAR1 (R300Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298281	NM_018237.4(CCAR1):c.1034G>A (p.Arg345Gln)	CCAR1 (R345Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570488	NM_018237.4(CCAR1):c.1057C>T (p.Arg353Trp)	CCAR1 (R338W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263737	NM_018237.4(CCAR1):c.1070G>T (p.Arg357Leu)	CCAR1 (R342L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516524	NM_018237.4(CCAR1):c.1121C>T (p.Pro374Leu)	CCAR1 (P359L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138177	NM_018237.4(CCAR1):c.1124G>T (p.Ser375Ile)	CCAR1 (S360I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379366	NM_018237.4(CCAR1):c.1133T>C (p.Met378Thr)	CCAR1 (M378T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236576	NM_018237.4(CCAR1):c.1151G>A (p.Arg384His)	CCAR1 (R384H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311499	NM_018237.4(CCAR1):c.1337G>A (p.Ser446Asn)	CCAR1 (S431N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613033	NM_018237.4(CCAR1):c.1361G>C (p.Ser454Thr)	CCAR1 (S454T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210938	NM_018237.4(CCAR1):c.1424G>A (p.Arg475Gln)	CCAR1 (R475Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138178	NM_018237.4(CCAR1):c.1609A>T (p.Ser537Cys)	CCAR1 (S537C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551086	NM_018237.4(CCAR1):c.1610G>A (p.Ser537Asn)	CCAR1 (S522N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255936	NM_018237.4(CCAR1):c.1818G>T (p.Lys606Asn)	CCAR1 (K591N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474899	NM_018237.4(CCAR1):c.2038A>G (p.Lys680Glu)	CCAR1 (K665E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465117	NM_018237.4(CCAR1):c.2076T>A (p.Asp692Glu)	CCAR1 (D677E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407194	NM_018237.4(CCAR1):c.2180C>T (p.Pro727Leu)	CCAR1 (P727L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303185	NM_018237.4(CCAR1):c.2431A>G (p.Arg811Gly)	CCAR1 (R811G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544529	NM_018237.4(CCAR1):c.2480C>T (p.Pro827Leu)	CCAR1 (P812L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279907	NM_018237.4(CCAR1):c.2597A>C (p.Asn866Thr)	CCAR1 (N866T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138179	NM_018237.4(CCAR1):c.2621A>G (p.Glu874Gly)	CCAR1 (E874G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463142	NM_018237.4(CCAR1):c.2630A>C (p.Glu877Ala)	CCAR1 (E862A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397588	NM_018237.4(CCAR1):c.2632G>T (p.Ala878Ser)	CCAR1 (A863S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138180	NM_018237.4(CCAR1):c.2696T>C (p.Ile899Thr)	CCAR1 (I899T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138181	NM_018237.4(CCAR1):c.2762T>A (p.Ile921Asn)	CCAR1 (I921N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138182	NM_018237.4(CCAR1):c.2818C>T (p.Leu940Phe)	CCAR1 (L925F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337079	NM_018237.4(CCAR1):c.2888A>G (p.Lys963Arg)	CCAR1 (K963R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263739	NM_018237.4(CCAR1):c.2906T>C (p.Val969Ala)	CCAR1 (V969A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210291	NM_018237.4(CCAR1):c.2954A>C (p.Asp985Ala)	CCAR1 (D970A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494721	NM_018237.4(CCAR1):c.3103G>A (p.Gly1035Arg)	CCAR1 (G1035R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263736	NM_018237.4(CCAR1):c.3133G>A (p.Glu1045Lys)	CCAR1 (E1045K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534821	NM_018237.4(CCAR1):c.3151G>T (p.Val1051Leu)	CCAR1 (V1051L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613213	NM_018237.4(CCAR1):c.3398A>G (p.Asn1133Ser)	CCAR1 (N1118S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251785	NM_018237.4(CCAR1):c.3421C>A (p.Gln1141Lys)	CCAR1 (Q1141K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
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 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 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 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393854	GRCh37/hg19 10q21.3-22.1(chr10:70525750-70775715)x3	CCAR1, DDX21 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 58