CCZ1B[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 2481412	NM_198097.5(CCZ1B):c.989C>G (p.Ala330Gly)	CCZ1B (A330G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320064	NM_198097.5(CCZ1B):c.985G>A (p.Asp329Asn)	CCZ1B (D329N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357028	NM_198097.5(CCZ1B):c.967G>A (p.Ala323Thr)	CCZ1B (A323T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2473182	NM_198097.5(CCZ1B):c.946G>A (p.Val316Ile)	CCZ1B (V316I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288712	NM_198097.5(CCZ1B):c.880G>A (p.Ala294Thr)	CCZ1B (A294T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602820	NM_198097.5(CCZ1B):c.623C>G (p.Ser208Cys)	CCZ1B (S208C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507694	NM_198097.5(CCZ1B):c.622T>G (p.Ser208Ala)	CCZ1B (S208A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224780	NM_198097.5(CCZ1B):c.484A>G (p.Lys162Glu)	CCZ1B (K162E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350621	NM_198097.5(CCZ1B):c.464C>G (p.Ala155Gly)	CCZ1B (A155G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373082	NM_198097.5(CCZ1B):c.415C>T (p.Arg139Trp)	CCZ1B (R139W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471871	NM_198097.5(CCZ1B):c.368A>C (p.Glu123Ala)	CCZ1B (E123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273552	NM_198097.5(CCZ1B):c.254A>C (p.His85Pro)	CCZ1B (H85P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373755	NM_198097.5(CCZ1B):c.247T>A (p.Ser83Thr)	CCZ1B (S83T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472773	NM_198097.5(CCZ1B):c.118C>G (p.Gln40Glu)	CCZ1B (Q40E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339986	NM_198097.5(CCZ1B):c.55C>G (p.Gln19Glu)	CCZ1B (Q19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568440	NM_198097.5(CCZ1B):c.20G>A (p.Gly7Glu)	CCZ1B (G7E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657314	NM_198097.5(CCZ1B):c.18C>G (p.Ala6=)	CCZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1808885	GRCh37/hg19 7p22.1(chr7:6615773-7080078)x3	CCZ1B, INTS15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 980259	GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3	CYTH3, RAC1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814928	GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3	C1GALT1, GLCCI1 +4 more	Copy number gain	not provided	GLikely benign
Select item 814927	GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3	COL28A1, GRID2IP +9 more	Copy number gain	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685930	GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3	C1GALT1, CCZ1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563391	GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3	ZNF12, INTS15 +9 more	Copy number gain	not provided	GLikely benign
Select item 563353	GRCh37/hg19 7p22.1(chr7:6774548-7196878)x1	CCZ1B, RSPH10B2	Copy number loss	not provided	GUncertain significance
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442388	GRCh37/hg19 7p22.1-21.3(chr7:6829890-7516815)x3	C1GALT1, CCZ1B +2 more	Copy number gain	See cases	GUncertain significance
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	ACTB, ADAP1 +80 more	Copy number gain	See cases	GPathogenic

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Items: 54