TOP3A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1440374	NM_004618.5(TOP3A):c.2999_3003del (p.Asn1000fs)	TOP3A (N1000fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1922093	NM_004618.5(TOP3A):c.2989del (p.Cys997fs)	TOP3A (C902fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2022045	NM_004618.5(TOP3A):c.2980dup (p.Arg994fs)	TOP3A (R899fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2135680	NM_004618.5(TOP3A):c.2974C>T (p.His992Tyr)	TOP3A (H897Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955966	NM_004618.5(TOP3A):c.2962C>T (p.His988Tyr)	TOP3A (H893Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694833	NM_004618.5(TOP3A):c.2946G>A (p.Arg982=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766034	NM_004618.5(TOP3A):c.2945G>A (p.Arg982Gln)	TOP3A (R982Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078143	NM_004618.5(TOP3A):c.2903G>A (p.Arg968Gln)	TOP3A (R968Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991799	NM_004618.5(TOP3A):c.2887A>G (p.Arg963Gly)	TOP3A (R868G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014956	NM_004618.5(TOP3A):c.2880G>A (p.Ser960=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053039	NM_004618.5(TOP3A):c.2879C>T (p.Ser960Leu)	TOP3A (S865L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1649646	NM_004618.5(TOP3A):c.2853A>G (p.Thr951=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814927	NM_004618.5(TOP3A):c.2832T>A (p.Thr944=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754383	NM_004618.5(TOP3A):c.2828-5G>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998811	NM_004618.5(TOP3A):c.2828-18C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826351	NM_004618.5(TOP3A):c.2828-20T>C	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896242	NM_004618.5(TOP3A):c.2827+14G>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1521601	NM_004618.5(TOP3A):c.2821G>A (p.Ala941Thr)	TOP3A (A941T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2057796	NM_004618.5(TOP3A):c.2820C>A (p.Thr940=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 916326	NM_004618.5(TOP3A):c.2820C>T (p.Thr940=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1439839	NM_004618.5(TOP3A):c.2809G>A (p.Asp937Asn)	TOP3A (D842N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558861	NM_004618.5(TOP3A):c.2808C>T (p.Val936=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699252	NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter)	TOP3A (E832* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 1981430	NM_004618.5(TOP3A):c.2775G>A (p.Pro925=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913504	NM_004618.5(TOP3A):c.2774C>T (p.Pro925Leu)	TOP3A (P925L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2809775	NM_004618.5(TOP3A):c.2769C>G (p.Ala923=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016708	NM_004618.5(TOP3A):c.2754G>A (p.Gln918=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918582	NM_004618.5(TOP3A):c.2748G>T (p.Gly916=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823281	NM_004618.5(TOP3A):c.2745G>A (p.Lys915=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039213	NM_004618.5(TOP3A):c.2742C>G (p.Asn914Lys)	TOP3A (N914K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560202	NM_004618.5(TOP3A):c.2718del (p.Thr907fs)	TOP3A (T812fs +1 more)	Deletion (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GPathogenic
Select item 2209797	NM_004618.5(TOP3A):c.2710G>A (p.Val904Ile)	TOP3A (V904I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190830	NM_004618.5(TOP3A):c.2709C>T (p.Ser903=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479372	NM_004618.5(TOP3A):c.2669G>A (p.Gly890Asp)	TOP3A (G795D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1606467	NM_004618.5(TOP3A):c.2640C>T (p.His880=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1901417	NM_004618.5(TOP3A):c.2625A>T (p.Pro875=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372213	NM_004618.5(TOP3A):c.2611C>G (p.Leu871Val)	TOP3A (L776V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2061122	NM_004618.5(TOP3A):c.2604C>T (p.Gly868=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188638	NM_004618.5(TOP3A):c.2597C>T (p.Pro866Leu)	TOP3A (P866L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2181604	NM_004618.5(TOP3A):c.2592T>C (p.Tyr864=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690633	NM_004618.5(TOP3A):c.2588C>T (p.Ala863Val)	TOP3A (A768V +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2997752	NM_004618.5(TOP3A):c.2562G>A (p.Pro854=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071330	NM_004618.5(TOP3A):c.2558A>G (p.Asn853Ser)	TOP3A (N758S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079204	NM_004618.5(TOP3A):c.2550C>T (p.Asp850=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164246	NM_004618.5(TOP3A):c.2531A>G (p.Asn844Ser)	TOP3A (N844S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2084191	NM_004618.5(TOP3A):c.2518G>A (p.Gly840Arg)	TOP3A (G745R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2559337	NM_004618.5(TOP3A):c.2498G>A (p.Arg833Gln)	TOP3A (R833Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328064	NM_004618.5(TOP3A):c.2497C>T (p.Arg833Trp)	TOP3A (R738W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2874047	NM_004618.5(TOP3A):c.2493G>A (p.Arg831=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421346	NM_004618.5(TOP3A):c.2492G>A (p.Arg831Gln)	TOP3A (R736Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1907352	NM_004618.5(TOP3A):c.2490C>T (p.Asn830=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941055	NM_004618.5(TOP3A):c.2489A>G (p.Asn830Ser)	TOP3A (N735S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984772	NM_004618.5(TOP3A):c.2477A>G (p.Lys826Arg)	TOP3A (K731R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146945	NM_004618.5(TOP3A):c.2474G>A (p.Arg825His)	TOP3A (R730H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685181	NM_004618.5(TOP3A):c.2473C>T (p.Arg825Cys)	TOP3A (R730C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2915959	NM_004618.5(TOP3A):c.2472C>T (p.Val824=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009409	NM_004618.5(TOP3A):c.2461C>G (p.Leu821Val)	TOP3A (L726V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328066	NM_004618.5(TOP3A):c.2446G>A (p.Gly816Ser)	TOP3A (G721S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1559968	NM_004618.5(TOP3A):c.2442C>T (p.Asn814=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068315	NM_004618.5(TOP3A):c.2435C>T (p.Thr812Ile)	TOP3A (T812I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2993859	NM_004618.5(TOP3A):c.2430T>G (p.Ser810=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560204	NM_004618.5(TOP3A):c.2428del (p.Ser810fs)	TOP3A (S715fs +1 more)	Deletion (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GPathogenic
Select item 2290197	NM_004618.5(TOP3A):c.2426A>G (p.Asn809Ser)	TOP3A (N714S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2815591	NM_004618.5(TOP3A):c.2418T>G (p.Gly806=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734919	NM_004618.5(TOP3A):c.2409G>A (p.Thr803=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082418	NM_004618.5(TOP3A):c.2408C>T (p.Thr803Met)	TOP3A (T708M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1918984	NM_004618.5(TOP3A):c.2386G>C (p.Ala796Pro)	TOP3A (A796P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766016	NM_004618.5(TOP3A):c.2340C>T (p.His780=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020227	NM_004618.5(TOP3A):c.2339A>G (p.His780Arg)	TOP3A (H685R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328061	NM_004618.5(TOP3A):c.2333G>C (p.Ser778Thr)	TOP3A (S778T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717059	NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp)	TOP3A (N678D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +2 more	GBenign/Likely benign
Select item 2053040	NM_004618.5(TOP3A):c.2314C>G (p.Leu772Val)	TOP3A (L677V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120822	NM_004618.5(TOP3A):c.2296C>T (p.Leu766=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900578	NM_004618.5(TOP3A):c.2295C>T (p.Arg765=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187523	NM_004618.5(TOP3A):c.2293C>T (p.Arg765Cys)	TOP3A (R670C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1987488	NM_004618.5(TOP3A):c.2286C>T (p.Pro762=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200563	NM_004618.5(TOP3A):c.2276C>T (p.Ala759Val)	TOP3A (A664V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560203	NM_004618.5(TOP3A):c.2271dup (p.Arg758fs)	TOP3A (R758fs +1 more)	Duplication (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +1 more	GPathogenic
Select item 1630542	NM_004618.5(TOP3A):c.2270C>T (p.Pro757Leu)	TOP3A (P662L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2161353	NM_004618.5(TOP3A):c.2264G>C (p.Gly755Ala)	TOP3A (G755A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949271	NM_004618.5(TOP3A):c.2264G>A (p.Gly755Asp)	TOP3A (G755D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879846	NM_004618.5(TOP3A):c.2259A>C (p.Ser753=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082865	NM_004618.5(TOP3A):c.2245G>C (p.Asp749His)	TOP3A (D749H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805523	NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)	TOP3A (T648S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +1 more	GUncertain significance
Select item 1657186	NM_004618.5(TOP3A):c.2224G>A (p.Asp742Asn)	TOP3A (D647N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3001268	NM_004618.5(TOP3A):c.2223C>T (p.Asp741=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907751	NM_004618.5(TOP3A):c.2220C>T (p.Cys740=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061420	NM_004618.5(TOP3A):c.2216G>T (p.Gly739Val)	TOP3A (G644V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1345709	NM_004618.5(TOP3A):c.2215G>A (p.Gly739Arg)	TOP3A (G739R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990389	NM_004618.5(TOP3A):c.2214C>T (p.Gly738=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893858	NM_004618.5(TOP3A):c.2185A>G (p.Met729Val)	TOP3A (M634V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077506	NM_004618.5(TOP3A):c.2180C>T (p.Pro727Leu)	TOP3A (P632L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647552	NM_004618.5(TOP3A):c.2166C>G (p.Arg722=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082644	NM_004618.5(TOP3A):c.2166C>T (p.Arg722=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2193875	NM_004618.5(TOP3A):c.2165G>A (p.Arg722His)	TOP3A (R627H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1946549	NM_004618.5(TOP3A):c.2160T>A (p.Phe720Leu)	TOP3A (F720L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896788	NM_004618.5(TOP3A):c.2148AAAGTT[1] (p.716LK[1])	TOP3A	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2991678	NM_004618.5(TOP3A):c.2151G>A (p.Lys717=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197493	NM_004618.5(TOP3A):c.2149A>C (p.Lys717Gln)	TOP3A (K622Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002477	NM_004618.5(TOP3A):c.2145-8C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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