ClinVar for Gene (Select 8940) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350416	NM_001282112.2(TOP3B):c.429C>T (p.Gly143=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GLikely benign
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 3328074	NM_001282112.2(TOP3B):c.703T>C (p.Phe235Leu)	TOP3B (F99L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 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 3181220	NM_001282112.2(TOP3B):c.478A>T (p.Ile160Phe)	TOP3B (I160F +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 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 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 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 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 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
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 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 3059024	NM_001282112.2(TOP3B):c.310-4del	TOP3B	Deletion (intron variant)	TOP3B-related disorder	GBenign
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 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 3055564	NM_001282112.2(TOP3B):c.960C>T (p.His320=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GBenign
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 3053696	NM_001282112.2(TOP3B):c.852+3G>A	TOP3B	Single nucleotide variant (intron variant)	TOP3B-related disorder	GLikely benign
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 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 3043387	NM_001282112.2(TOP3B):c.558G>A (p.Leu186=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GLikely benign
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 3041814	NM_001282112.2(TOP3B):c.1352-10A>C	TOP3B	Single nucleotide variant (intron variant)	TOP3B-related disorder	GLikely benign
Select item 3039423	NM_001282112.2(TOP3B):c.654G>A (p.Gln218=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	TOP3B-related disorder	GBenign
Select item 3033224	NM_001282112.2(TOP3B):c.402G>A (p.Leu134=)	TOP3B	Single nucleotide variant (synonymous variant +2 more)	TOP3B-related disorder	GLikely benign
Select item 3024859	NM_001282112.2(TOP3B):c.726G>T (p.Val242=)	TOP3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2684932	GRCh37/hg19 22q11.21-11.22(chr22:22043937-22728895)x3	MAPK1, PPIL2 +5 more	Copy number gain	not provided	GUncertain significance
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 2652952	NM_001282112.2(TOP3B):c.2220G>A (p.Ser740=)	TOP3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2636564	NM_001282112.2(TOP3B):c.2107+2T>C	TOP3B	Single nucleotide variant (synonymous variant +2 more)	TOP3B-related disorder	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 2604265	NM_001282112.2(TOP3B):c.808G>A (p.Ala270Thr)	TOP3B (A270T +1 more)	Single nucleotide variant (missense variant +1 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 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 2555314	NM_001282112.2(TOP3B):c.1013G>A (p.Arg338Gln)	TOP3B (R338Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 2510316	NM_001282112.2(TOP3B):c.505G>A (p.Glu169Lys)	TOP3B (E169K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495032	NM_001282112.2(TOP3B):c.406G>A (p.Val136Ile)	TOP3B (V136I)	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 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 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 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 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 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 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 2361899	NM_001282112.2(TOP3B):c.869G>A (p.Arg290Lys)	TOP3B (R290K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360134	NM_001282112.2(TOP3B):c.799C>T (p.Arg267Trp)	TOP3B (R267W +1 more)	Single nucleotide variant (missense variant +1 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 2315040	NM_001282112.2(TOP3B):c.110C>T (p.Ser37Leu)	TOP3B (S37L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312919	NM_001282112.2(TOP3B):c.181G>A (p.Val61Met)	TOP3B (V61M)	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 2293133	NM_001282112.2(TOP3B):c.515A>G (p.His172Arg)	TOP3B (H172R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2279815	NM_001282112.2(TOP3B):c.164C>T (p.Thr55Met)	TOP3B (T55M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249566	NM_001282112.2(TOP3B):c.613G>A (p.Gly205Ser)	TOP3B (G205S +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 1808649	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GPathogenic
Select item 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 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 1340186	GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3	CCDC116, MAPK1 +9 more	Copy number gain	not provided	GUncertain significance
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 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 997086	GRCh37/hg19 22q11.22(chr22:22313128-22556733)	TOP3B	Copy number loss	Delayed speech and language development	GLikely pathogenic
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 980809	GRCh37/hg19 22q11.21-11.22(chr22:22079945-22587762)x3	MAPK1, PPM1F +3 more	Copy number gain	not provided	GUncertain significance
Select item 980808	GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3	AIFM3, ARVCF +60 more	Copy number gain	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 816563	GRCh37/hg19 22q11.21-11.22(chr22:22053830-22373083)x3	PPM1F, MAPK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816562	GRCh37/hg19 22q11.21-11.22(chr22:22044995-22335910)x3	PPM1F-AS1, YPEL1 +4 more	Copy number gain	not provided	GUncertain significance

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