ClinVar for Gene (Select 7156) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 489

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380475	NM_004618.5(TOP3A):c.2434A>G (p.Thr812Ala)	TOP3A (T717A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377253	NM_004618.5(TOP3A):c.1111delinsGG (p.Pro371fs)	TOP3A (P276fs +1 more)	Indel (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GPathogenic
Select item 3363447	NM_004618.5(TOP3A):c.991-12C>G	TOP3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3328067	NM_004618.5(TOP3A):c.1576C>T (p.Leu526Phe)	TOP3A (L526F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3328065	NM_004618.5(TOP3A):c.13G>A (p.Val5Ile)	LOC130060427, TOP3A (V5I)	Single nucleotide variant (5 prime UTR variant +1 more)	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 3328063	NM_004618.5(TOP3A):c.944G>C (p.Arg315Thr)	TOP3A (R315T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3328060	NM_004618.5(TOP3A):c.1889C>G (p.Ala630Gly)	TOP3A (A535G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243160	NC_000017.10:g.(?_18178116)_(18218092_?)dup	TOP3A	Duplication	not provided	GUncertain significance
Select item 3243159	NC_000017.10:g.(?_18193851)_(18208554_?)del	TOP3A	Deletion	not provided	GPathogenic
Select item 3181204	NM_004618.5(TOP3A):c.268T>G (p.Ser90Ala)	TOP3A (S90A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181203	NM_004618.5(TOP3A):c.174G>A (p.Met58Ile)	TOP3A (M58I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181202	NM_004618.5(TOP3A):c.1715A>G (p.Tyr572Cys)	TOP3A (Y572C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181200	NM_004618.5(TOP3A):c.1244C>G (p.Pro415Arg)	TOP3A (P415R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069032	NM_004618.5(TOP3A):c.760G>A (p.Glu254Lys)	TOP3A (E159K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065210	NM_004618.5(TOP3A):c.240G>C (p.Gln80His)	TOP3A (Q80H +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 3063833	NC_000017.10:g.(18210281_18211664)_(18212256_18217912)dup	TOP3A	Duplication	TOP3A-related disorder	GLikely pathogenic
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3055276	NM_004618.5(TOP3A):c.967C>A (p.Arg323=)	TOP3A	Single nucleotide variant (synonymous variant)	TOP3A-related disorder	GLikely benign
Select item 3047780	NM_004618.5(TOP3A):c.1512C>T (p.Thr504=)	TOP3A	Single nucleotide variant (synonymous variant)	TOP3A-related disorder	GLikely benign
Select item 3046464	NM_004618.5(TOP3A):c.2022-8G>A	TOP3A	Single nucleotide variant (intron variant)	TOP3A-related disorder	GLikely benign
Select item 3029145	NM_004618.5(TOP3A):c.2064T>C (p.Ala688=)	TOP3A	Single nucleotide variant (synonymous variant)	TOP3A-related disorder	GLikely benign
Select item 3028909	NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)	TOP3A (D205G +1 more)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	GPathogenic
Select item 3021522	NM_004618.5(TOP3A):c.814+7C>A	TOP3A	Single nucleotide variant (intron 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 3016708	NM_004618.5(TOP3A):c.2754G>A (p.Gln918=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014956	NM_004618.5(TOP3A):c.2880G>A (p.Ser960=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004360	NM_004618.5(TOP3A):c.1564G>A (p.Asp522Asn)	TOP3A (D427N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3002477	NM_004618.5(TOP3A):c.2145-8C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001268	NM_004618.5(TOP3A):c.2223C>T (p.Asp741=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000800	NM_004618.5(TOP3A):c.540G>A (p.Glu180=)	TOP3A	Single nucleotide variant (synonymous 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 2998473	NM_004618.5(TOP3A):c.1468-18A>G	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997752	NM_004618.5(TOP3A):c.2562G>A (p.Pro854=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993859	NM_004618.5(TOP3A):c.2430T>G (p.Ser810=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2991678	NM_004618.5(TOP3A):c.2151G>A (p.Lys717=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990893	NM_004618.5(TOP3A):c.45G>A (p.Arg15=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990340	NM_004618.5(TOP3A):c.499+8CTG[4]	TOP3A	Microsatellite (intron variant)	not provided	GLikely benign
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 2982928	NM_004618.5(TOP3A):c.2082G>A (p.Ser694=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979419	NM_004618.5(TOP3A):c.2145-19C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974374	NM_004618.5(TOP3A):c.1282-13C>G	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968332	NM_004618.5(TOP3A):c.1926C>G (p.Ala642=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964032	NM_004618.5(TOP3A):c.2065G>T (p.Val689Leu)	TOP3A (V594L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962746	NM_004618.5(TOP3A):c.815-11C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962385	NM_004618.5(TOP3A):c.2145-12dup	TOP3A	Duplication (intron variant)	not provided	GLikely benign
Select item 2961709	NM_004618.5(TOP3A):c.1611T>G (p.Thr537=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961132	NM_004618.5(TOP3A):c.915+15T>C	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957217	NM_004618.5(TOP3A):c.1282-13C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918035	NM_004618.5(TOP3A):c.1098A>G (p.Glu366=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916189	NM_004618.5(TOP3A):c.459C>A (p.Gly153=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915959	NM_004618.5(TOP3A):c.2472C>T (p.Val824=)	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 2903658	NM_004618.5(TOP3A):c.1791T>C (p.Asp597=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903204	NM_004618.5(TOP3A):c.1131G>A (p.Thr377=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900843	NM_004618.5(TOP3A):c.483C>T (p.Ile161=)	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 2898055	NM_004618.5(TOP3A):c.1308T>C (p.Phe436=)	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 2888646	NM_004618.5(TOP3A):c.978C>G (p.Ala326=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887680	NM_004618.5(TOP3A):c.1171dup (p.Ala391fs)	TOP3A (A296fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2886147	NM_004618.5(TOP3A):c.627G>A (p.Glu209=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879846	NM_004618.5(TOP3A):c.2259A>C (p.Ser753=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878376	NM_004618.5(TOP3A):c.2022-16G>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874047	NM_004618.5(TOP3A):c.2493G>A (p.Arg831=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873635	NM_004618.5(TOP3A):c.1294C>T (p.Arg432Ter)	TOP3A (R432* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2872410	NM_004618.5(TOP3A):c.644-12T>G	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872409	NM_004618.5(TOP3A):c.644-11_644-2del	TOP3A	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2870165	NM_004618.5(TOP3A):c.1711+7G>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858947	NM_004618.5(TOP3A):c.1535C>G (p.Thr512Ser)	TOP3A (T512S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854822	NM_004618.5(TOP3A):c.2055T>C (p.Cys685=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846702	NM_004618.5(TOP3A):c.1878-17C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841292	NM_004618.5(TOP3A):c.2022-19C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838499	NM_004618.5(TOP3A):c.45G>T (p.Arg15=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	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 2824471	NM_004618.5(TOP3A):c.1479C>T (p.Val493=)	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 2815591	NM_004618.5(TOP3A):c.2418T>G (p.Gly806=)	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 2814255	NM_004618.5(TOP3A):c.391-1G>A	TOP3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2811047	NM_004618.5(TOP3A):c.922dup (p.Met308fs)	TOP3A (M213fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2809775	NM_004618.5(TOP3A):c.2769C>G (p.Ala923=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808402	NM_004618.5(TOP3A):c.990+13C>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806513	NM_004618.5(TOP3A):c.815-18T>C	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795064	NM_004618.5(TOP3A):c.499+16_499+17insTGG	TOP3A	Insertion (intron variant)	not provided	GLikely benign
Select item 2768813	NM_004618.5(TOP3A):c.2022-16G>T	TOP3A	Single nucleotide variant (intron 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 2766016	NM_004618.5(TOP3A):c.2340C>T (p.His780=)	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 2741417	NM_004618.5(TOP3A):c.644-16C>G	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740114	NM_004618.5(TOP3A):c.1890C>G (p.Ala630=)	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 2724578	NM_004618.5(TOP3A):c.889C>T (p.Leu297=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716366	NM_004618.5(TOP3A):c.1120_1121del (p.Leu374fs)	TOP3A (L279fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2712347	NM_004618.5(TOP3A):c.2022-6C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705672	NM_004618.5(TOP3A):c.1365A>G (p.Thr455=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 5