ClinVar for Gene (Select 7155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377540	NM_001330700.2(TOP2B):c.1303del (p.Trp435fs)	TOP2B (W430fs +1 more)	Deletion (frameshift variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3372678	NM_001330700.2(TOP2B):c.3129C>A (p.Phe1043Leu)	TOP2B (F1038L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371642	NM_001330700.2(TOP2B):c.3746T>C (p.Met1249Thr)	TOP2B (M1244T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370990	NM_001330700.2(TOP2B):c.1418C>T (p.Ser473Phe)	TOP2B (S468F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369498	NM_001330700.2(TOP2B):c.2323A>G (p.Met775Val)	TOP2B (M770V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365554	NM_001330700.2(TOP2B):c.197T>G (p.Leu66Arg)	TOP2B (L61R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362095	NM_001330700.2(TOP2B):c.4588A>C (p.Ile1530Leu)	TOP2B (I1525L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361529	NM_001330700.2(TOP2B):c.577A>G (p.Ile193Val)	TOP2B (I188V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360380	NM_001330700.2(TOP2B):c.3161G>C (p.Arg1054Pro)	TOP2B (R1049P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359994	NM_001330700.2(TOP2B):c.1601T>G (p.Ile534Arg)	TOP2B (I529R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343081	NM_001330700.2(TOP2B):c.2T>C (p.Met1Thr)	LOC129936375, TOP2B (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341496	NM_001330700.2(TOP2B):c.4151A>C (p.Asp1384Ala)	TOP2B (D1379A +1 more)	Single nucleotide variant (missense variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3339121	NM_001330700.2(TOP2B):c.4522A>G (p.Lys1508Glu)	TOP2B (K1503E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328059	NM_001330700.2(TOP2B):c.4087G>C (p.Ala1363Pro)	TOP2B (A1358P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328058	NM_001330700.2(TOP2B):c.4505A>T (p.Asp1502Val)	TOP2B (D1502V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328057	NM_001330700.2(TOP2B):c.1825T>G (p.Ser609Ala)	TOP2B (S609A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328056	NM_001330700.2(TOP2B):c.4139A>C (p.Asp1380Ala)	TOP2B (D1380A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3239438	NM_001330700.2(TOP2B):c.4517A>C (p.Lys1506Thr)	TOP2B (K1501T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239232	NM_001330700.2(TOP2B):c.1854A>G (p.Glu618=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236592	NM_001330700.2(TOP2B):c.3230dup (p.Leu1077fs)	TOP2B (L1072fs +1 more)	Duplication (frameshift variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3181199	NM_001330700.2(TOP2B):c.626A>T (p.His209Leu)	TOP2B (H204L +1 more)	Single nucleotide variant (missense variant)	not specified	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 3181197	NM_001330700.2(TOP2B):c.4438G>T (p.Gly1480Cys)	TOP2B (G1475C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181196	NM_001330700.2(TOP2B):c.4382C>T (p.Ser1461Leu)	TOP2B (S1461L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181195	NM_001330700.2(TOP2B):c.4148A>G (p.Asp1383Gly)	TOP2B (D1383G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181194	NM_001330700.2(TOP2B):c.3239T>C (p.Ile1080Thr)	TOP2B (I1075T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068041	NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)	TOP2B (E542Q +1 more)	Single nucleotide variant (missense variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3065975	NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)	TOP2B (V1347M +1 more)	Single nucleotide variant (missense variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3052784	NM_001330700.2(TOP2B):c.-9G>T	LOC129936375, TOP2B	Single nucleotide variant (5 prime UTR variant)	TOP2B-related disorder	GLikely benign
Select item 3030197	NM_001330700.2(TOP2B):c.396-10T>A	TOP2B	Single nucleotide variant (intron variant)	TOP2B-related disorder	GLikely benign
Select item 3022959	NM_001330700.2(TOP2B):c.1800+6C>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021219	NM_001330700.2(TOP2B):c.4615+17T>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019436	NM_001330700.2(TOP2B):c.3845C>T (p.Pro1282Leu)	TOP2B (P1277L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012305	NM_001330700.2(TOP2B):c.1937A>G (p.Lys646Arg)	TOP2B (K646R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010878	NM_001330700.2(TOP2B):c.2727+19T>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010267	NM_001330700.2(TOP2B):c.4490-1G>A	TOP2B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3009517	NM_001330700.2(TOP2B):c.996C>T (p.Ile332=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008703	NM_001330700.2(TOP2B):c.4298+10G>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007946	NM_001330700.2(TOP2B):c.4094-14A>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007695	NM_001330700.2(TOP2B):c.3952C>T (p.Pro1318Ser)	TOP2B (P1313S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006367	NM_001330700.2(TOP2B):c.3931+19T>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3005143	NM_001330700.2(TOP2B):c.618A>G (p.Glu206=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3001164	NM_001330700.2(TOP2B):c.2825T>C (p.Val942Ala)	TOP2B (V937A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000001	NM_001330700.2(TOP2B):c.1027-16A>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999343	NM_001330700.2(TOP2B):c.3064-4T>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999221	NM_001330700.2(TOP2B):c.4299-5A>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999210	NM_001330700.2(TOP2B):c.4011T>C (p.Asp1337=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997862	NM_001330700.2(TOP2B):c.1070A>G (p.Lys357Arg)	TOP2B (K352R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997483	NM_001330700.2(TOP2B):c.2417A>G (p.Gln806Arg)	TOP2B (Q806R +1 more)	Single nucleotide variant (missense variant)	not provided	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 2994970	NM_001330700.2(TOP2B):c.4616-20dup	TOP2B	Duplication (intron variant)	not provided	GBenign
Select item 2994966	NM_001330700.2(TOP2B):c.2725A>G (p.Met909Val)	TOP2B (M909V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994643	NM_001330700.2(TOP2B):c.724C>G (p.Pro242Ala)	TOP2B (P242A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990895	NM_001330700.2(TOP2B):c.278G>T (p.Cys93Phe)	TOP2B (C88F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990730	NM_001330700.2(TOP2B):c.3508G>A (p.Gly1170Arg)	TOP2B (G1165R +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 2989868	NM_001330700.2(TOP2B):c.4379-9A>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987747	NM_001330700.2(TOP2B):c.2803T>C (p.Phe935Leu)	TOP2B (F930L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987591	NM_001330700.2(TOP2B):c.146T>G (p.Leu49Trp)	TOP2B (L44W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987243	NM_001330700.2(TOP2B):c.4298+9T>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986844	NM_001330700.2(TOP2B):c.1266+14G>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2986381	NM_001330700.2(TOP2B):c.3962C>G (p.Ser1321Cys)	TOP2B (S1321C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2985407	NM_001330700.2(TOP2B):c.3063+20G>A	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984666	NM_001330700.2(TOP2B):c.3345A>C (p.Gln1115His)	TOP2B (Q1110H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984078	NM_001330700.2(TOP2B):c.1210C>A (p.Leu404Met)	TOP2B (L399M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983071	NM_001330700.2(TOP2B):c.78dup (p.Asp27Ter)	TOP2B (D27*)	Duplication (nonsense +1 more)	not provided	GBenign
Select item 2981726	NM_001330700.2(TOP2B):c.918C>A (p.Ala306=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981524	NM_001330700.2(TOP2B):c.2355G>A (p.Leu785=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979868	NM_001330700.2(TOP2B):c.4295C>T (p.Pro1432Leu)	TOP2B (P1427L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979677	NM_001330700.2(TOP2B):c.4298+15T>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978675	NM_001330700.2(TOP2B):c.621C>T (p.Tyr207=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978132	NM_001330700.2(TOP2B):c.3064-6G>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977758	NM_001330700.2(TOP2B):c.332-14G>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976583	NM_001330700.2(TOP2B):c.2602A>G (p.Met868Val)	TOP2B (M863V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975885	NM_001330700.2(TOP2B):c.640-3A>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2973869	NM_001330700.2(TOP2B):c.1075A>G (p.Ile359Val)	TOP2B (I354V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972921	NM_001330700.2(TOP2B):c.1766G>A (p.Gly589Asp)	TOP2B (G584D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972628	NM_001330700.2(TOP2B):c.2382G>A (p.Gln794=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972485	NM_001330700.2(TOP2B):c.396-13_396-12inv	TOP2B	Inversion (intron variant)	not provided	GUncertain significance
Select item 2971699	NM_001330700.2(TOP2B):c.474T>A (p.Val158=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971047	NM_001330700.2(TOP2B):c.1191G>A (p.Gln397=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2970719	NM_001330700.2(TOP2B):c.4093+13del	TOP2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2969611	NM_001330700.2(TOP2B):c.2757G>A (p.Thr919=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969251	NM_001330700.2(TOP2B):c.122A>G (p.Asn41Ser)	TOP2B (N36S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968049	NM_001330700.2(TOP2B):c.1966C>T (p.Arg656Cys)	TOP2B (R651C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966397	NM_001330700.2(TOP2B):c.3775AAG[3] (p.Lys1262del)	TOP2B (K1257del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2965710	NM_001330700.2(TOP2B):c.1266+8_1266+10del	TOP2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2965238	NM_001330700.2(TOP2B):c.1026+20G>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963468	NM_001330700.2(TOP2B):c.3063+8A>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963239	NM_001330700.2(TOP2B):c.4465A>G (p.Ser1489Gly)	TOP2B (S1489G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961999	NM_001330700.2(TOP2B):c.2728-6C>T	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961624	NM_001330700.2(TOP2B):c.241-5T>C	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960845	NM_001330700.2(TOP2B):c.1033C>A (p.Arg345=)	TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960096	NM_001330700.2(TOP2B):c.1026+17T>G	TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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