TOP3B[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 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145536	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57261	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3	AIFM3, CCDC116 +101 more	Copy number gain	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 545270	NC_000022.11:g.(?_21956007)_(22224188_?)del	IGL, IGLV10-54 +20 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2553460	NM_001282112.2(TOP3B):c.2575G>A (p.Ala859Thr)	TOP3B (A723T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488995	NM_001282112.2(TOP3B):c.2540C>G (p.Pro847Arg)	TOP3B (P847R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328068	NM_001282112.2(TOP3B):c.2510G>A (p.Arg837Gln)	TOP3B (R837Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181219	NM_001282112.2(TOP3B):c.2504G>A (p.Arg835Gln)	TOP3B (R699Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305071	NM_001282112.2(TOP3B):c.2494G>A (p.Gly832Ser)	TOP3B (G696S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526098	NM_001282112.2(TOP3B):c.2489G>A (p.Arg830Lys)	TOP3B (R694K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181218	NM_001282112.2(TOP3B):c.2476G>A (p.Gly826Arg)	TOP3B (G690R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209506	NM_001282112.2(TOP3B):c.2473G>A (p.Gly825Ser)	TOP3B (G689S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181217	NM_001282112.2(TOP3B):c.2470C>G (p.Arg824Gly)	TOP3B (R688G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181216	NM_001282112.2(TOP3B):c.2468A>G (p.His823Arg)	TOP3B (H823R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598301	NM_001282112.2(TOP3B):c.2401G>A (p.Val801Ile)	TOP3B (V665I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1298886	NM_001282112.2(TOP3B):c.2386C>T (p.Gln796Ter)	TOP3B (Q660* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 3328069	NM_001282112.2(TOP3B):c.2377G>A (p.Asp793Asn)	TOP3B (D657N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181215	NM_001282112.2(TOP3B):c.2375G>A (p.Gly792Asp)	TOP3B (G792D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244412	NM_001282112.2(TOP3B):c.2317G>A (p.Val773Ile)	TOP3B (V637I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181213	NM_001282112.2(TOP3B):c.2290G>T (p.Val764Leu)	TOP3B (V628L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338671	NM_001282112.2(TOP3B):c.2290G>A (p.Val764Met)	TOP3B (V628M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2652951	NM_001282112.2(TOP3B):c.2275G>A (p.Glu759Lys)	TOP3B (E623K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2542979	NM_001282112.2(TOP3B):c.2260G>T (p.Val754Leu)	TOP3B (V754L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2652952	NM_001282112.2(TOP3B):c.2220G>A (p.Ser740=)	TOP3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 770011	NM_001282112.2(TOP3B):c.2193C>T (p.Ser731=)	TOP3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2407663	NM_001282112.2(TOP3B):c.2179G>C (p.Val727Leu)	TOP3B (V591L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328075	NM_001282112.2(TOP3B):c.2135C>T (p.Pro712Leu)	TOP3B (P576L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 715206	NM_001282112.2(TOP3B):c.2107+7G>A	TOP3B (C569Y)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2636564	NM_001282112.2(TOP3B):c.2107+2T>C	TOP3B	Single nucleotide variant (synonymous variant +2 more)	TOP3B-related disorder	GUncertain significance
Select item 3328072	NM_001282112.2(TOP3B):c.2056C>T (p.Pro686Ser)	TOP3B (P550S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632108	NM_001282112.2(TOP3B):c.2023C>G (p.Leu675Val)	TOP3B (L539V +1 more)	Single nucleotide variant (missense variant +1 more)	TOP3B-related disorder	GUncertain significance
Select item 2548573	NM_001282112.2(TOP3B):c.2014G>A (p.Glu672Lys)	TOP3B (E536K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045705	NM_001282112.2(TOP3B):c.1818G>A (p.Leu606=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GLikely benign
Select item 545271	NC_000022.11:g.(?_21959229)_(22218520_?)del	IGL, IGLV10-54 +20 more	Deletion	Autism	GLikely pathogenic
Select item 3181212	NM_001282112.2(TOP3B):c.1759G>C (p.Asp587His)	TOP3B (D451H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181211	NM_001282112.2(TOP3B):c.1736G>A (p.Arg579His)	TOP3B (R579H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784890	NM_001282112.2(TOP3B):c.1655-6T>C	TOP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2374798	NM_001282112.2(TOP3B):c.1627G>A (p.Val543Ile)	TOP3B (V407I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181210	NM_001282112.2(TOP3B):c.1624A>G (p.Ile542Val)	TOP3B (I406V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181209	NM_001282112.2(TOP3B):c.1601G>A (p.Arg534Gln)	TOP3B (R534Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043284	NM_001282112.2(TOP3B):c.1593C>T (p.Ser531=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GLikely benign
Select item 3054823	NM_001282112.2(TOP3B):c.1583C>T (p.Thr528Met)	TOP3B (T392M +1 more)	Single nucleotide variant (missense variant +1 more)	TOP3B-related disorder	GLikely benign
Select item 3328071	NM_001282112.2(TOP3B):c.1484C>T (p.Thr495Met)	TOP3B (T495M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181208	NM_001282112.2(TOP3B):c.1438G>A (p.Glu480Lys)	TOP3B (E344K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057101	NM_001282112.2(TOP3B):c.1415G>A (p.Arg472Gln)	TOP3B (R336Q +1 more)	Single nucleotide variant (missense variant +1 more)	TOP3B-related disorder	GLikely benign
Select item 3041814	NM_001282112.2(TOP3B):c.1352-10A>C	TOP3B	Single nucleotide variant (intron variant)	TOP3B-related disorder	GLikely benign
Select item 786695	NM_001282112.2(TOP3B):c.1338C>T (p.Thr446=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3181207	NM_001282112.2(TOP3B):c.1330G>A (p.Gly444Arg)	TOP3B (G308R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328070	NM_001282112.2(TOP3B):c.1305T>G (p.Ile435Met)	TOP3B (I299M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048772	NM_001282112.2(TOP3B):c.1281G>T (p.Leu427=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GLikely benign
Select item 3181206	NM_001282112.2(TOP3B):c.1265A>G (p.His422Arg)	TOP3B (H286R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740127	NM_001282112.2(TOP3B):c.1215G>A (p.Ala405=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2221791	NM_001282112.2(TOP3B):c.1214C>T (p.Ala405Val)	TOP3B (A269V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366002	NM_001282112.2(TOP3B):c.1198G>A (p.Glu400Lys)	TOP3B (E264K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740830	NM_001282112.2(TOP3B):c.1197C>T (p.Ala399=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2512636	NM_001282112.2(TOP3B):c.1172C>T (p.Thr391Ile)	TOP3B (T391I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362505	NM_001282112.2(TOP3B):c.1153G>A (p.Gly385Ser)	TOP3B (G249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226589	NM_001282112.2(TOP3B):c.1150G>A (p.Ala384Thr)	TOP3B (A384T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060731	NM_001282112.2(TOP3B):c.1145A>G (p.His382Arg)	TOP3B (H246R +1 more)	Single nucleotide variant (missense variant +1 more)	TOP3B-related disorder	GBenign
Select item 730811	NM_001282112.2(TOP3B):c.1135C>T (p.Arg379Trp)	TOP3B (R243W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2594793	NM_001282112.2(TOP3B):c.1106G>A (p.Arg369Gln)	TOP3B (R369Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3057045	NM_001282112.2(TOP3B):c.1093G>A (p.Asp365Asn)	TOP3B (D229N +1 more)	Single nucleotide variant (missense variant +1 more)	TOP3B-related disorder	GBenign
Select item 2291842	NM_001282112.2(TOP3B):c.1073C>A (p.Ala358Asp)	TOP3B (A222D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373691	NM_001282112.2(TOP3B):c.1064G>A (p.Arg355Gln)	TOP3B (R219Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408705	NM_001282112.2(TOP3B):c.1058C>T (p.Ser353Phe)	TOP3B (S217F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181205	NM_001282112.2(TOP3B):c.1036G>A (p.Glu346Lys)	TOP3B (E346K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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