TOP2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 2701357	NM_001330700.2(TOP2B):c.4865_*15inv (p.Phe1622_Ter1627delinsCysAlaLeuTrpAlaLeu)	TOP2B	Inversion (stop lost)	not provided	GUncertain significance
Select item 1701643	NM_001330700.2(TOP2B):c.4870A>G (p.Met1624Val)	TOP2B (M1619V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2700421	NM_001330700.2(TOP2B):c.4869A>T (p.Ala1623=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501397	NM_001330700.2(TOP2B):c.4859T>A (p.Val1620Asp)	TOP2B (V1615D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999917	NM_001330700.2(TOP2B):c.4858G>A (p.Val1620Ile)	TOP2B (V1615I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1349417	NM_001330700.2(TOP2B):c.4851_4856dup (p.Glu1617_Asp1618dup)	TOP2B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1409547	NM_001330700.2(TOP2B):c.4845AGA[2] (p.Glu1617del)	TOP2B (E1612del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2444006	NM_001330700.2(TOP2B):c.4852G>C (p.Asp1618His)	TOP2B (D1618H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164865	NM_001330700.2(TOP2B):c.4851A>T (p.Glu1617Asp)	TOP2B (E1612D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2817117	NM_001330700.2(TOP2B):c.4836_4850del (p.Ser1613_Glu1617del)	TOP2B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2446554	NC_000003.12:g.25598346A>T	RARB, TOP2B (D1609E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937875	NM_001330700.2(TOP2B):c.4840G>T (p.Asp1614Tyr)	TOP2B (D1614Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705793	NM_001330700.2(TOP2B):c.4838C>A (p.Ser1613Tyr)	TOP2B (S1608Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990639	NM_001330700.2(TOP2B):c.4834_4836dup (p.Glu1612_Ser1613insGlu)	TOP2B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2807298	NM_001330700.2(TOP2B):c.4836G>A (p.Glu1612=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845847	NM_001330700.2(TOP2B):c.4831G>C (p.Ala1611Pro)	TOP2B (A1606P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765762	NM_001330700.2(TOP2B):c.4826_4829dup (p.Phe1610fs)	TOP2B (F1605fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1164142	NM_001330700.2(TOP2B):c.4830T>C (p.Phe1610=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1412427	NM_001330700.2(TOP2B):c.4828T>C (p.Phe1610Leu)	TOP2B (F1605L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477087	NM_001330700.2(TOP2B):c.4819G>T (p.Val1607Leu)	TOP2B (V1607L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807678	NM_001330700.2(TOP2B):c.4812G>A (p.Arg1604=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748359	NM_001330700.2(TOP2B):c.4805G>C (p.Arg1602Pro)	TOP2B (R1602P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768780	NM_001330700.2(TOP2B):c.4802G>T (p.Gly1601Val)	TOP2B (G1596V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379926	NM_001330700.2(TOP2B):c.4801G>A (p.Gly1601Ser)	TOP2B (G1601S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2751463	NM_001330700.2(TOP2B):c.4800C>T (p.Thr1600=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965741	NM_001330700.2(TOP2B):c.4800C>A (p.Thr1600=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1353036	NM_001330700.2(TOP2B):c.4799C>T (p.Thr1600Ile)	TOP2B (T1600I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925766	NM_001330700.2(TOP2B):c.4796G>A (p.Arg1599Gln)	TOP2B (R1594Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712724	NC_000003.12:g.25598393G>A	RARB, TOP2B (R1594* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2253395	NM_001330700.2(TOP2B):c.4792C>T (p.Pro1598Ser)	TOP2B (P1598S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2986642	NM_001330700.2(TOP2B):c.4790T>C (p.Leu1597Pro)	TOP2B (L1597P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874004	NM_001330700.2(TOP2B):c.4777G>A (p.Glu1593Lys)	TOP2B (E1593K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402175	NM_001330700.2(TOP2B):c.4775C>A (p.Thr1592Asn)	TOP2B (T1587N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828749	NM_001330700.2(TOP2B):c.4774A>G (p.Thr1592Ala)	TOP2B (T1587A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915543	NM_001330700.2(TOP2B):c.4732_4773dup (p.Pro1591_Thr1592insAspGlnAspSerAspValAspIlePheProSerAspPhePro)	TOP2B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2869479	NM_001330700.2(TOP2B):c.4770C>T (p.Phe1590=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496715	NM_001330700.2(TOP2B):c.4759C>G (p.Pro1587Ala)	TOP2B (P1587A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995888	NM_001330700.2(TOP2B):c.4758C>T (p.Phe1586=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669289	NM_001330700.2(TOP2B):c.4752C>T (p.Asp1584=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868262	NM_001330700.2(TOP2B):c.4749G>A (p.Val1583=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963400	NM_001330700.2(TOP2B):c.4740T>A (p.Asp1580Glu)	TOP2B (D1575E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001220	NM_001330700.2(TOP2B):c.4739A>C (p.Asp1580Ala)	TOP2B (D1575A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433800	NM_001330700.2(TOP2B):c.4738G>A (p.Asp1580Asn)	TOP2B (D1575N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481955	NM_001330700.2(TOP2B):c.4733A>G (p.Asp1578Gly)	TOP2B (D1573G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1023426	NM_001330700.2(TOP2B):c.4725_4727dup (p.Ser1576dup)	TOP2B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2011563	NM_001330700.2(TOP2B):c.4718AGA[3] (p.Lys1574_Thr1575insLys)	TOP2B	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1522310	NM_001330700.2(TOP2B):c.4724C>T (p.Thr1575Ile)	TOP2B (T1570I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595409	NM_001330700.2(TOP2B):c.4716G>A (p.Pro1572=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165419	NM_001330700.2(TOP2B):c.4715C>T (p.Pro1572Leu)	TOP2B (P1567L +1 more)	Single nucleotide variant (missense variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations +1 more	GBenign/Likely benign
Select item 1514856	NM_001330700.2(TOP2B):c.4711-4C>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601164	NM_001330700.2(TOP2B):c.4711-7_4711-6dup	TOP2B	Duplication (intron variant)	not provided	GBenign
Select item 1164866	NM_001330700.2(TOP2B):c.4711-13dup	TOP2B	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1374103	NM_001330700.2(TOP2B):c.4711-7_4711-6insT	TOP2B	Insertion (intron variant)	not provided	GLikely benign
Select item 2834912	NM_001330700.2(TOP2B):c.4711-9A>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759713	NM_001330700.2(TOP2B):c.4711-13A>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626018	NM_001330700.2(TOP2B):c.4711-14G>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900122	NM_001330700.2(TOP2B):c.4711-21_4711-17dup	TOP2B	Duplication (intron variant)	not provided	GLikely benign
Select item 1668972	NM_001330700.2(TOP2B):c.4711-17A>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547559	NM_001330700.2(TOP2B):c.4711-19C>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930034	NM_001330700.2(TOP2B):c.4710+19G>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853865	NM_001330700.2(TOP2B):c.4710+14T>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1135839	NM_001330700.2(TOP2B):c.4710+7G>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981522	NM_001330700.2(TOP2B):c.4710+6C>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1444177	NM_001330700.2(TOP2B):c.4710+6C>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2007852	NM_001330700.2(TOP2B):c.4710+4dup	TOP2B	Duplication (intron variant)	not provided	GUncertain significance
Select item 1469139	NM_001330700.2(TOP2B):c.4710+5C>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2757343	NM_001330700.2(TOP2B):c.4706G>C (p.Ser1569Thr)	TOP2B (S1569T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428488	NM_001330700.2(TOP2B):c.4700CAA[1] (p.Thr1568del)	TOP2B (T1568del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3181198	NM_001330700.2(TOP2B):c.4703C>T (p.Thr1568Ile)	TOP2B (T1563I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791915	NM_001330700.2(TOP2B):c.4702A>G (p.Thr1568Ala)	TOP2B (T1568A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1387716	NM_001330700.2(TOP2B):c.4697A>G (p.Lys1566Arg)	TOP2B (K1561R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534242	NM_001330700.2(TOP2B):c.4695C>G (p.Ser1565=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986375	NM_001330700.2(TOP2B):c.4677C>G (p.Asn1559Lys)	TOP2B (N1554K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096494	NM_001330700.2(TOP2B):c.4677C>T (p.Asn1559=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1380960	NM_001330700.2(TOP2B):c.4669G>A (p.Asp1557Asn)	TOP2B (D1552N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2995868	NM_001330700.2(TOP2B):c.4668C>G (p.Gly1556=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593917	NM_001330700.2(TOP2B):c.4668C>T (p.Gly1556=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1482405	NM_001330700.2(TOP2B):c.4661A>G (p.Asn1554Ser)	TOP2B (N1554S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092357	NM_001330700.2(TOP2B):c.4647A>G (p.Ala1549=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488564	NM_001330700.2(TOP2B):c.4625G>A (p.Arg1542Gln)	TOP2B (R1542Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503526	NM_001330700.2(TOP2B):c.4621G>C (p.Gly1541Arg)	TOP2B (G1536R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779369	NM_001330700.2(TOP2B):c.4616-1G>C	TOP2B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1916776	NM_001330700.2(TOP2B):c.4616-16T>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994970	NM_001330700.2(TOP2B):c.4616-20dup	TOP2B	Duplication (intron variant)	not provided	GBenign
Select item 1530968	NM_001330700.2(TOP2B):c.4616-20A>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133845	NM_001330700.2(TOP2B):c.4615+19T>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604236	NM_001330700.2(TOP2B):c.4615+19T>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021219	NM_001330700.2(TOP2B):c.4615+17T>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662664	NM_001330700.2(TOP2B):c.4615+13T>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876323	NM_001330700.2(TOP2B):c.4615+9T>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847998	NM_001330700.2(TOP2B):c.4606A>C (p.Thr1536Pro)	TOP2B (T1531P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110291	NM_001330700.2(TOP2B):c.4599G>C (p.Lys1533Asn)	TOP2B (K1528N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005270	NM_001330700.2(TOP2B):c.4591C>G (p.Pro1531Ala)	TOP2B (P1526A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517212	NM_001330700.2(TOP2B):c.4590T>G (p.Ile1530Met)	TOP2B (I1530M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085927	NM_001330700.2(TOP2B):c.4572_4577dup (p.Ser1526_Glu1527insAspSer)	TOP2B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2418211	NM_001330700.2(TOP2B):c.4572G>A (p.Ser1524=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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