CCAR1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	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 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 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 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 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 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)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +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	HKDC1, DNAJC12 +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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53