ZNF280B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	LOC130066994, LOC130066995 +287 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 154610	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	CCDC116, FAM230B +94 more	Copy number gain	See cases	GUncertain significance
Select item 148420	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1	CCDC116, FAM230B +102 more	Copy number loss	See cases	GPathogenic
Select item 148419	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3	CCDC116, FAM230B +102 more	Copy number gain	See cases	GUncertain significance
Select item 57332	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 150486	GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 59253	GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	BCR, CCDC116 +180 more	Copy number loss	See cases	GPathogenic
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 147610	GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1	CCDC116, HIC2 +90 more	Copy number loss	See cases	GPathogenic
Select item 153062	GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	CCDC116, GGTLC2 +94 more	Copy number loss	See cases	GPathogenic
Select item 146777	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic
Select item 146776	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3	CCDC116, IGL +89 more	Copy number gain	See cases	GPathogenic
Select item 155200	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	CCDC116, IGL +92 more	Copy number loss	See cases	GPathogenic
Select item 148699	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	LOC129929044, LOC129929045 +176 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 146442	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	BCR, CCDC116 +179 more	Copy number loss	See cases	GPathogenic
Select item 59327	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	BCR, CCDC116 +179 more	Copy number gain	See cases	GPathogenic
Select item 32689	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 151375	GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3	CCDC116, GGTLC2 +86 more	Copy number gain	See cases	GPathogenic
Select item 57444	GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1	CCDC116, IGL +80 more	Copy number loss	See cases	GPathogenic
Select item 59328	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3	CCDC116, GGTLC2 +84 more	Copy number gain	See cases	GPathogenic
Select item 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 59282	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1	CCDC116, IGL +83 more	Copy number loss	See cases	GPathogenic
Select item 145760	GRCh38/hg38 22q11.22(chr22:22374043-22886630)x1	GGTLC2, IGL +37 more	Copy number loss	See cases	GBenign
Select item 2372282	NM_080764.4(ZNF280B):c.1564G>C (p.Val522Leu)	IGL, ZNF280B (V522L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381056	NM_080764.4(ZNF280B):c.1396C>T (p.Arg466Trp)	IGL, ZNF280B (R466W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194863	NM_080764.4(ZNF280B):c.1345T>A (p.Cys449Ser)	IGL, ZNF280B (C449S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331279	NM_080764.4(ZNF280B):c.1333A>G (p.Thr445Ala)	IGL, ZNF280B (T445A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410594	NM_080764.4(ZNF280B):c.1192C>A (p.Pro398Thr)	IGL, ZNF280B (P398T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335355	NM_080764.4(ZNF280B):c.1086C>T (p.Ile362=)	IGL, ZNF280B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3194861	NM_080764.4(ZNF280B):c.1031C>G (p.Thr344Ser)	IGL, ZNF280B (T344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518718	NM_080764.4(ZNF280B):c.1021A>G (p.Asn341Asp)	IGL, ZNF280B (N341D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628004	NM_080764.4(ZNF280B):c.937G>A (p.Val313Met)	IGL, ZNF280B (V313M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2462514	NM_080764.4(ZNF280B):c.888A>T (p.Glu296Asp)	IGL, ZNF280B (E296D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267468	NM_080764.4(ZNF280B):c.754A>G (p.Asn252Asp)	IGL, ZNF280B (N252D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242458	NM_080764.4(ZNF280B):c.706C>T (p.Pro236Ser)	IGL, ZNF280B (P236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335354	NM_080764.4(ZNF280B):c.648T>A (p.Ser216Arg)	IGL, ZNF280B (S216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412018	NM_080764.4(ZNF280B):c.535G>A (p.Glu179Lys)	IGL, ZNF280B (E179K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345340	NM_080764.4(ZNF280B):c.533T>C (p.Phe178Ser)	IGL, ZNF280B (F178S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335353	NM_080764.4(ZNF280B):c.500A>G (p.Glu167Gly)	IGL, ZNF280B (E167G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258333	NM_080764.4(ZNF280B):c.470G>A (p.Ser157Asn)	IGL, ZNF280B (S157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397943	NM_080764.4(ZNF280B):c.440C>T (p.Thr147Ile)	IGL, ZNF280B (T147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535607	NM_080764.4(ZNF280B):c.406A>G (p.Asn136Asp)	IGL, ZNF280B (N136D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194864	NM_080764.4(ZNF280B):c.310G>T (p.Ala104Ser)	IGL, ZNF280B (A104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557319	NM_080764.4(ZNF280B):c.290A>G (p.Glu97Gly)	IGL, ZNF280B (E97G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194862	NM_080764.4(ZNF280B):c.110A>G (p.His37Arg)	IGL, ZNF280B (H37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194865	NM_080764.4(ZNF280B):c.68T>C (p.Val23Ala)	IGL, ZNF280B (V23A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
Select item 2685673	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	CCDC116, GGT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1808649	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GPathogenic
Select item 1807776	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 1706504	GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1330164	GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3	MIR130B, CCDC116 +15 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980810	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 973580	NC_000022.10:g.21514655_22986816del	CCDC116, GGT2 +18 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 929328	GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3	CCDC116, MAPK1 +12 more	Copy number gain	See cases	GPathogenic
Select item 830215	NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del	CCDC116, GGTLC2 +16 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 816560	GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1	MAPK1, PPM1F +13 more	Copy number loss	not provided	GPathogenic
Select item 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 more	Copy number gain	not provided	GPathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 688599	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 688301	GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1	BCR, CCDC116 +20 more	Copy number loss	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685586	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 625626	GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)	BCR, CCDC116 +23 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 625624	GRCh37/hg19 22q11.22(chr22:22255329-23321856)	GGTLC2, IGLC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625623	GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)	CCDC116, GGTLC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 599193	NC_000022.10:g.21808950_22963000del1154051	CCDC116, MAPK1 +15 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565040	GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	AIFM3, BCR +39 more	Copy number loss	not provided	GPathogenic
Select item 565032	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 565024	GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 565017	GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1	CCDC116, HIC2 +16 more	Copy number loss	not provided	GPathogenic
Select item 565016	GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443421	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	See cases	GPathogenic
Select item 443325	GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3	BCR, CCDC116 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442574	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1	CCDC116, HIC2 +16 more	Copy number loss	See cases	GPathogenic
Select item 442278	GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3	CCDC116, GGTLC2 +17 more	Copy number gain	See cases	GUncertain significance

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