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Gene: TOP2B (DNA topoisomerase II beta) Homo sapiens

Analyze

Symbol:

TOP2B

Name:

DNA topoisomerase II beta

RGD ID:

1350637

HGNC Page

HGNC:11990

Description:

Enables DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity and chromatin binding activity. Involved in B cell differentiation; DNA topological change; and positive regulation of single stranded viral RNA replication via double stranded DNA intermediate. Located in cytosol; heterochromatin; and nuclear lumen.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

antigen MLAA-44; BILU; DNA topoisomerase 2-beta; DNA topoisomerase II, 180 kD; DNA topoisomerase II, beta isozyme; top2beta; TOPIIB; topo II beta; topoisomerase (DNA) II beta; topoisomerase (DNA) II beta 180kDa; topoisomerase II beta; topoisomerase IIb; U937 associated antigen

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Top2b (topoisomerase (DNA) II beta)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Top2b (DNA topoisomerase II beta)	RGD	RGD
Chinchilla lanigera (long-tailed chinchilla):	Top2b (DNA topoisomerase II beta)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TOP2B (DNA topoisomerase II beta)	NCBI	Ortholog
Canis lupus familiaris (dog):	TOP2B (DNA topoisomerase II beta)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Top2b (DNA topoisomerase II beta)	NCBI	Ortholog
Sus scrofa (pig):	TOP2B (DNA topoisomerase II beta)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TOP2B (DNA topoisomerase II beta)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Top2b (DNA topoisomerase II beta)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Top2a (topoisomerase (DNA) II alpha)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Pcdhb2 (protocadherin beta 2)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Top2b (topoisomerase (DNA) II beta)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Top2b (DNA topoisomerase II beta)	Alliance	DIOPT (HGNC)
Danio rerio (zebrafish):	top2b (DNA topoisomerase II beta)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	TOP2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Top2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	cin-4	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	top-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	top2b.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	top2b.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	top2b	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	25,597,905 - 25,664,907 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	25,597,978 - 25,664,909 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	25,639,396 - 25,706,398 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	25,614,479 - 25,680,792 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	25,614,478 - 25,680,792	NCBI
Celera	3	25,576,353 - 25,642,666 (-)	NCBI		Celera
Cytogenetic Map	3	p24.2	NCBI
HuRef	3	25,584,872 - 25,651,422 (-)	NCBI		HuRef
CHM1_1	3	25,589,386 - 25,655,854 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	25,600,752 - 25,667,754 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations (IAGP)

congenital disorder of deglycosylation (IAGP)

genetic disease (IAGP)

myeloid leukemia (EXP)

Neurodevelopmental Disorders (IAGP)

prostate carcinoma in situ (EXP)

syndromic microphthalmia 12 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-dexrazoxane (ISO)

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

1,2-naphthoquinone (EXP)

1,4-benzoquinone (EXP)

1,4-naphthoquinone (EXP)

1-chloro-2,4-dinitrobenzene (EXP)

1-nitropyrene (EXP)

17beta-estradiol (EXP)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-diaminodiphenylmethane (ISO)

acetaldehyde (ISO)

afimoxifene (EXP)

aflatoxin B1 (ISO)

aflatoxin M1 (EXP)

all-trans-retinoic acid (EXP,ISO)

alternariol (EXP)

amphetamine (ISO)

amsacrine (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

ATP (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

Bisphenol A diglycidyl ether (ISO)

bisphenol AF (ISO)

bortezomib (ISO)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

cannabidiol (EXP)

carbamazepine (ISO)

CGP 52608 (EXP)

chlorpyrifos (EXP,ISO)

cisplatin (ISO)

coumarin (EXP)

crocidolite asbestos (ISO)

Cryptotanshinone (EXP)

curcumin (EXP)

dehydroepiandrosterone (ISO)

deoxynivalenol (ISO)

diarsenic trioxide (EXP)

dicrotophos (EXP)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP,ISO)

ellipticine (EXP)

enzyme inhibitor (EXP)

ethanol (ISO)

etoposide (EXP,ISO)

flusilazole (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

genistein (EXP)

glafenine (ISO)

ivermectin (EXP)

lead(0) (EXP)

m-xylene (ISO)

menadione (EXP)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

miconazole (ISO)

naphthalene-1,2-diol (EXP)

oxaliplatin (ISO)

ozone (ISO)

p-menthan-3-ol (EXP)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

quercetin (EXP,ISO)

rac-lactic acid (EXP)

raloxifene (EXP)

razoxane (EXP,ISO)

resveratrol (EXP,ISO)

S-butyl-DL-homocysteine (S,R)-sulfoximine (ISO)

SB 431542 (EXP)

sodium dichromate (ISO)

tamibarotene (EXP)

tannic acid (ISO)

tetrachloroethene (ISO)

titanium dioxide (ISO)

topotecan (ISO)

Tributyltin oxide (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

tungsten (ISO)

tunicamycin (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

axonogenesis (IEA,ISO)

B cell differentiation (IEA,IMP)

cellular response to ATP (IEA,ISO)

cellular response to hydrogen peroxide (IEA,ISO)

cellular senescence (IEA,ISO)

DNA topological change (IDA,IEA)

forebrain development (IEA,ISO)

neuron migration (IEA,ISO)

positive regulation of double-strand break repair via nonhomologous end joining (IEA,ISO)

positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (IMP)

resolution of meiotic recombination intermediates (IBA)

sister chromatid segregation (IBA)

Cellular Component

chromosome (ISO)

cytosol (IDA)

heterochromatin (IDA)

nucleolus (IDA,IEA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IBA,IDA,IEA)

ribonucleoprotein complex (ISS)

Molecular Function

ATP binding (IEA)

ATP-dependent activity, acting on DNA (IEA)

chromatin binding (IDA)

DNA binding (IEA)

DNA negative supercoiling activity (IEA)

DNA topoisomerase activity (IEA)

DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity (IDA,IEA,IMP)

isomerase activity (IEA)

metal ion binding (IEA)

protein binding (IPI)

ribonucleoprotein complex binding (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

doxorubicin pharmacodynamics pathway (TAS)

doxorubicin response pathway (TAS)

etoposide pharmacodynamics pathway (EXP)

etoposide pharmacokinetics pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	Anthracyclines/trastuzumab: new aspects of cardiotoxicity and molecular mechanisms.	Rochette L, etal., Trends Pharmacol Sci. 2015 Jun;36(6):326-48. doi: 10.1016/j.tips.2015.03.005. Epub 2015 Apr 17.
5.	Doxorubicin, DNA torsion, and chromatin dynamics.	Yang F, etal., Biochim Biophys Acta. 2014 Jan;1845(1):84-9. doi: 10.1016/j.bbcan.2013.12.002. Epub 2013 Dec 19.

Additional References at PubMed

PMID:1309226	PMID:1333583	PMID:2163884	PMID:2556712	PMID:8299728	PMID:8383537	PMID:8396237	PMID:8626450	PMID:8710863	PMID:9049244	PMID:9155018	PMID:9155056
PMID:9426241	PMID:9461304	PMID:9743583	PMID:9795238	PMID:10095062	PMID:10473615	PMID:10666337	PMID:10684600	PMID:10862613	PMID:10879730	PMID:11062478	PMID:11136718
PMID:11395412	PMID:11710515	PMID:11790298	PMID:11927602	PMID:12105221	PMID:12197834	PMID:12393188	PMID:12477932	PMID:12629207	PMID:12821127	PMID:14596941	PMID:14723357
PMID:14996935	PMID:15044480	PMID:15302935	PMID:15561718	PMID:15635413	PMID:15680922	PMID:16091284	PMID:16159877	PMID:16502015	PMID:16565220	PMID:16611985	PMID:16712776
PMID:16794079	PMID:16932348	PMID:16969495	PMID:17081983	PMID:17182034	PMID:17209120	PMID:17361331	PMID:17526531	PMID:17567603	PMID:18029348	PMID:18212063	PMID:18394993
PMID:19181665	PMID:19222228	PMID:19303849	PMID:19394292	PMID:19450526	PMID:19902255	PMID:19913121	PMID:20201926	PMID:20360068	PMID:20628086	PMID:20800603	PMID:20882068
PMID:21145461	PMID:21182205	PMID:21280220	PMID:21542140	PMID:21793937	PMID:21873635	PMID:22111588	PMID:22751105	PMID:22939629	PMID:23022380	PMID:23241634	PMID:23399433
PMID:23696245	PMID:23938298	PMID:24326092	PMID:24332808	PMID:24591637	PMID:24711643	PMID:24766193	PMID:24778252	PMID:24801450	PMID:24808172	PMID:24981860	PMID:25011107
PMID:25217229	PMID:25609649	PMID:25693804	PMID:25737280	PMID:25815590	PMID:25921289	PMID:26030138	PMID:26055322	PMID:26344197	PMID:26496610	PMID:26612825	PMID:26638075
PMID:26876283	PMID:27582050	PMID:27634302	PMID:28077445	PMID:28087392	PMID:28102848	PMID:28302793	PMID:28345663	PMID:28472494	PMID:28514442	PMID:28515276	PMID:28554742
PMID:28669856	PMID:28700616	PMID:28977666	PMID:29128334	PMID:29180619	PMID:29395067	PMID:29467282	PMID:29478914	PMID:29507755	PMID:29721183	PMID:29802200	PMID:29911972
PMID:29955894	PMID:29991511	PMID:30021884	PMID:30110629	PMID:30169847	PMID:30196744	PMID:30216786	PMID:30318608	PMID:30349055	PMID:30463901	PMID:30554943	PMID:30585729
PMID:30699358	PMID:30804502	PMID:30833792	PMID:30884312	PMID:30948266	PMID:30997501	PMID:31010829	PMID:31048545	PMID:31076518	PMID:31090963	PMID:31091453	PMID:31106979
PMID:31180492	PMID:31198993	PMID:31409639	PMID:31409799	PMID:31586073	PMID:31871319	PMID:31995728	PMID:32015321	PMID:32128574	PMID:32218491	PMID:32416067	PMID:32433965
PMID:32460013	PMID:32535049	PMID:32538781	PMID:32707033	PMID:32744500	PMID:32767399	PMID:32780723	PMID:32971831	PMID:33005030	PMID:33024031	PMID:33188014	PMID:33239621
PMID:33301849	PMID:33402057	PMID:33563836	PMID:33658012	PMID:33704596	PMID:33916271	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34189442	PMID:34244565	PMID:34349018
PMID:34551306	PMID:34591612	PMID:34610268	PMID:34795231	PMID:35013556	PMID:35256949	PMID:35271311	PMID:35575683	PMID:35660158	PMID:35705031	PMID:35768646	PMID:35785414
PMID:35831314	PMID:35831557	PMID:35850772	PMID:35915203	PMID:36057605	PMID:36089195	PMID:36114006	PMID:36215168	PMID:36232890	PMID:36243803	PMID:36373674	PMID:36410793
PMID:36424410	PMID:36490346	PMID:36560452	PMID:36597993	PMID:36766705	PMID:37068767	PMID:37071682	PMID:37616343	PMID:37689310	PMID:37827155	PMID:37834253	PMID:38038260
PMID:38172120	PMID:38240344	PMID:38263255	PMID:38334954	PMID:38697112	PMID:38803224	PMID:39358380

Genomics

Comparative Map Data

TOP2B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	25,597,905 - 25,664,907 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	25,597,978 - 25,664,909 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	25,639,396 - 25,706,398 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	25,614,479 - 25,680,792 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	25,614,478 - 25,680,792	NCBI
Celera	3	25,576,353 - 25,642,666 (-)	NCBI		Celera
Cytogenetic Map	3	p24.2	NCBI
HuRef	3	25,584,872 - 25,651,422 (-)	NCBI		HuRef
CHM1_1	3	25,589,386 - 25,655,854 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	25,600,752 - 25,667,754 (-)	NCBI		T2T-CHM13v2.0

Top2b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	6,038,976 - 6,104,585 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	6,034,301 - 6,104,584 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	16,365,206 - 16,430,787 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	16,365,179 - 16,435,462 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	17,197,720 - 17,263,301 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	15,158,473 - 15,224,054 (+)	NCBI		MGSCv36	mm8
Celera	14	12,058,636 - 12,125,106 (+)	NCBI		Celera
Cytogenetic Map	14	A1	NCBI
cM Map	14	7.08	NCBI

Top2b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	11,482,089 - 11,542,464 (-)	NCBI		GRCr8
mRatBN7.2	15	9,051,340 - 9,111,721 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	9,051,341 - 9,112,085 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	11,194,159 - 11,253,909 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	12,106,947 - 12,166,695 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	10,407,427 - 10,467,175 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	10,262,972 - 10,319,741 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	10,262,651 - 10,320,233 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	14,308,369 - 14,366,373 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	15	9,095,127 - 9,153,091 (-)	NCBI		Celera
Cytogenetic Map	15	p16	NCBI

Top2b
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955430	17,457,603 - 17,507,012 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955430	17,457,603 - 17,523,115 (-)	NCBI	ChiLan1.0	ChiLan1.0

TOP2B
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	2	25,558,594 - 25,625,391 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	25,563,361 - 25,630,147 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	25,499,239 - 25,566,029 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	25,830,424 - 25,877,870 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	25,828,879 - 25,896,912 (-)	Ensembl	panpan1.1		panPan2

TOP2B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	23	18,159,521 - 18,206,413 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	23	18,146,095 - 18,206,287 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	23	18,145,151 - 18,204,187 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	23	18,450,639 - 18,509,671 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	23	18,462,741 - 18,509,662 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	23	18,269,373 - 18,328,309 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	23	18,372,171 - 18,431,166 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	23	18,486,061 - 18,545,078 (+)	NCBI		UU_Cfam_GSD_1.0

Top2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	184,007,995 - 184,050,993 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936473	17,143,894 - 17,189,605 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936473	17,146,576 - 17,189,589 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TOP2B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	12,507,138 - 12,575,583 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	12,507,738 - 12,575,042 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	14,119,707 - 14,187,251 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TOP2B
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	15	70,266,267 - 70,332,079 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	70,266,601 - 70,332,824 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	43,404,940 - 43,471,152 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Top2b
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624788	3,493,188 - 3,590,138 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TOP2B
717 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	copy number gain	See cases [RCV000051097]	Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2	pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]\|See cases [RCV000051718]	Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1	pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	copy number gain	See cases [RCV000051720]	Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2	pathogenic
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)	single nucleotide variant	Autism spectrum disorder [RCV000256202]	Chr3:25645353 [GRCh38] Chr3:25686844 [GRCh37] Chr3:3p24.2	likely pathogenic
NM_001330700.2(TOP2B):c.2862+14T>C	single nucleotide variant	not provided [RCV002127153]	Chr3:25620668 [GRCh38] Chr3:25662159 [GRCh37] Chr3:3p24.2	benign
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	copy number gain	See cases [RCV000138004]	Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1	pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	copy number gain	See cases [RCV000141810]	Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1	pathogenic
NC_000003.12:g.25598346A>T	single nucleotide variant	not provided [RCV003159384]	Chr3:25598346 [GRCh38] Chr3:25639837 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.890A>G (p.Lys297Arg)	single nucleotide variant	not provided [RCV002001770]	Chr3:25633977 [GRCh38] Chr3:25675468 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1895dup (p.Tyr633fs)	duplication	not specified [RCV002281870]	Chr3:25628857..25628858 [GRCh38] Chr3:25670348..25670349 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3140G>A (p.Arg1047Gln)	single nucleotide variant	not provided [RCV000585374]	Chr3:25618773 [GRCh38] Chr3:25660264 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)x1	copy number loss	See cases [RCV000447472]	Chr3:25045365..32691140 [GRCh37] Chr3:3p24.2-22.3	likely pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3	copy number gain	See cases [RCV000448528]	Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p24.2(chr3:25329791-25719030)x1	copy number loss	See cases [RCV000510441]	Chr3:25329791..25719030 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	copy number gain	See cases [RCV000510429]	Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3	pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	copy number gain	See cases [RCV000511463]	Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_001330700.2(TOP2B):c.4057G>A (p.Val1353Ile)	single nucleotide variant	not specified [RCV004325438]	Chr3:25609219 [GRCh38] Chr3:25650710 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1327C>G (p.Gln443Glu)	single nucleotide variant	not specified [RCV004283821]	Chr3:25630879 [GRCh38] Chr3:25672370 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	copy number gain	not provided [RCV000682249]	Chr3:16923595..45249923 [GRCh37] Chr3:3p24.3-21.31	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p24.2(chr3:25564929-25654677)x3	copy number gain	not provided [RCV000742326]	Chr3:25564929..25654677 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.3501T>C (p.Asp1167=)	single nucleotide variant	not provided [RCV000946719]	Chr3:25615437 [GRCh38] Chr3:25656928 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.376A>G (p.Ile126Val)	single nucleotide variant	not provided [RCV003738409]\|not specified [RCV004301963]	Chr3:25642341 [GRCh38] Chr3:25683832 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-5_396-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT	microsatellite	not provided [RCV000914433]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	copy number loss	not provided [RCV000848353]	Chr3:19064852..26448689 [GRCh37] Chr3:3p24.3-24.1	pathogenic
GRCh37/hg19 3p24.2(chr3:25319259-25713461)x3	copy number gain	not provided [RCV001005418]	Chr3:25319259..25713461 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3652G>A (p.Gly1218Ser)	single nucleotide variant	not provided [RCV003318175]	Chr3:25612649 [GRCh38] Chr3:25654140 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3308A>G (p.Tyr1103Cys)	single nucleotide variant	not specified [RCV001192890]	Chr3:25618461 [GRCh38] Chr3:25659952 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.179A>C (p.Gln60Pro)	single nucleotide variant	not provided [RCV003126410]	Chr3:25645361 [GRCh38] Chr3:25686852 [GRCh37] Chr3:3p24.2	uncertain significance
NC_000003.11:g.(?_25470223)_(25824881_?)del	deletion	Congenital disorder of deglycosylation [RCV003122294]\|Microphthalmia, syndromic 12 [RCV003105380]	Chr3:25470223..25824881 [GRCh37] Chr3:3p24.2	pathogenic\|uncertain significance
NM_001330700.2(TOP2B):c.2251T>A (p.Leu751Ile)	single nucleotide variant	not provided [RCV000886509]	Chr3:25624777 [GRCh38] Chr3:25666268 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.3153C>T (p.Tyr1051=)	single nucleotide variant	not provided [RCV000907798]	Chr3:25618760 [GRCh38] Chr3:25660251 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4702A>G (p.Thr1568Ala)	single nucleotide variant	not provided [RCV000974971]	Chr3:25599443 [GRCh38] Chr3:25640934 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2253A>G (p.Leu751=)	single nucleotide variant	not provided [RCV000956077]	Chr3:25624775 [GRCh38] Chr3:25666266 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4140T>A (p.Asp1380Glu)	single nucleotide variant	not provided [RCV001310479]	Chr3:25607329 [GRCh38] Chr3:25648820 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1901A>G (p.Tyr634Cys)	single nucleotide variant	Inborn genetic diseases [RCV001266592]\|not provided [RCV003222291]	Chr3:25628852 [GRCh38] Chr3:25670343 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4125AGA[2] (p.Glu1378del)	microsatellite	not provided [RCV001306518]	Chr3:25607336..25607338 [GRCh38] Chr3:25648827..25648829 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-19_396-5del	deletion	TOP2B-related disorder [RCV003973281]\|not provided [RCV001433200]	Chr3:25638315..25638329 [GRCh38] Chr3:25679806..25679820 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-17_396-5del	deletion	TOP2B-related disorder [RCV003973225]\|not provided [RCV001392220]	Chr3:25638315..25638327 [GRCh38] Chr3:25679806..25679818 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.362A>T (p.Lys121Met)	single nucleotide variant	not provided [RCV001344964]	Chr3:25642355 [GRCh38] Chr3:25683846 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4487A>C (p.Lys1496Thr)	single nucleotide variant	not provided [RCV001304845]	Chr3:25604762 [GRCh38] Chr3:25646253 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1641A>T (p.Glu547Asp)	single nucleotide variant	not provided [RCV001314884]	Chr3:25630077 [GRCh38] Chr3:25671568 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4725_4727dup (p.Ser1576dup)	duplication	not provided [RCV001323462]	Chr3:25598460..25598461 [GRCh38] Chr3:25639951..25639952 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1425G>T (p.Glu475Asp)	single nucleotide variant	not provided [RCV001350007]\|not specified [RCV004036604]	Chr3:25630450 [GRCh38] Chr3:25671941 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3589G>C (p.Asp1197His)	single nucleotide variant	not provided [RCV001301071]	Chr3:25615207 [GRCh38] Chr3:25656698 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3451C>G (p.Leu1151Val)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV002282511]\|not provided [RCV001295817]	Chr3:25615487 [GRCh38] Chr3:25656978 [GRCh37] Chr3:3p24.2	likely pathogenic\|uncertain significance
NM_001330700.2(TOP2B):c.406_409del (p.Asn135_Ile136insTer)	deletion	not provided [RCV001324785]	Chr3:25638297..25638300 [GRCh38] Chr3:25679788..25679791 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4858G>A (p.Val1620Ile)	single nucleotide variant	TOP2B-related disorder [RCV003918842]\|not provided [RCV001295977]\|not specified [RCV004036018]	Chr3:25598330 [GRCh38] Chr3:25639821 [GRCh37] Chr3:3p24.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001330700.2(TOP2B):c.4208C>G (p.Thr1403Arg)	single nucleotide variant	not provided [RCV001280715]	Chr3:25607261 [GRCh38] Chr3:25648752 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1576G>C (p.Ala526Pro)	single nucleotide variant	not provided [RCV001325923]	Chr3:25630142 [GRCh38] Chr3:25671633 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.331+20T>G	single nucleotide variant	not provided [RCV001494666]	Chr3:25643674 [GRCh38] Chr3:25685165 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.102A>C (p.Lys34Asn)	single nucleotide variant	not provided [RCV001326224]\|not specified [RCV004035197]	Chr3:25645438 [GRCh38] Chr3:25686929 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4094-20A>G	single nucleotide variant	not provided [RCV001513355]	Chr3:25607395 [GRCh38] Chr3:25648886 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.969A>G (p.Thr323=)	single nucleotide variant	not provided [RCV001486966]	Chr3:25633898 [GRCh38] Chr3:25675389 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1227T>C (p.Phe409=)	single nucleotide variant	not provided [RCV001505710]	Chr3:25632485 [GRCh38] Chr3:25673976 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4830T>C (p.Phe1610=)	single nucleotide variant	not provided [RCV001509701]	Chr3:25598358 [GRCh38] Chr3:25639849 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.3786+8A>G	single nucleotide variant	not provided [RCV001523145]	Chr3:25612507 [GRCh38] Chr3:25653998 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.3064-7T>C	single nucleotide variant	not provided [RCV001523146]	Chr3:25618856 [GRCh38] Chr3:25660347 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.31G>A (p.Ala11Thr)	single nucleotide variant	not provided [RCV001523147]	Chr3:25664267 [GRCh38] Chr3:25705758 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-16_396-5del	deletion	TOP2B-related disorder [RCV003921077]\|not provided [RCV001511236]	Chr3:25638315..25638326 [GRCh38] Chr3:25679806..25679817 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.3744T>C (p.Ala1248=)	single nucleotide variant	not provided [RCV001511388]	Chr3:25612557 [GRCh38] Chr3:25654048 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4710+7G>A	single nucleotide variant	not provided [RCV001471289]	Chr3:25599428 [GRCh38] Chr3:25640919 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1968C>A (p.Arg656=)	single nucleotide variant	not provided [RCV001517081]	Chr3:25627235 [GRCh38] Chr3:25668726 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-15_396-5del	deletion	TOP2B-related disorder [RCV003921169]\|not provided [RCV001521727]	Chr3:25638315..25638325 [GRCh38] Chr3:25679806..25679816 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.1129-17G>T	single nucleotide variant	not provided [RCV001515758]\|not specified [RCV003487349]	Chr3:25632600 [GRCh38] Chr3:25674091 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.3592-14T>C	single nucleotide variant	not provided [RCV001434840]	Chr3:25612723 [GRCh38] Chr3:25654214 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-24_396-5del	deletion	not provided [RCV001434931]	Chr3:25638315..25638334 [GRCh38] Chr3:25679806..25679825 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-20_396-5del	deletion	TOP2B-related disorder [RCV003938723]\|not provided [RCV001418869]	Chr3:25638315..25638330 [GRCh38] Chr3:25679806..25679821 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3064-17A>G	single nucleotide variant	not provided [RCV001427700]	Chr3:25618866 [GRCh38] Chr3:25660357 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1027-7del	deletion	not provided [RCV001519150]	Chr3:25632801 [GRCh38] Chr3:25674292 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.3597G>A (p.Val1199=)	single nucleotide variant	not provided [RCV001486147]	Chr3:25612704 [GRCh38] Chr3:25654195 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4299-19T>C	single nucleotide variant	not provided [RCV001515689]	Chr3:25606141 [GRCh38] Chr3:25647632 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.1506C>T (p.Tyr502=)	single nucleotide variant	not provided [RCV001510232]	Chr3:25630369 [GRCh38] Chr3:25671860 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-18_396-5del	deletion	TOP2B-related disorder [RCV003938855]\|not provided [RCV001479573]	Chr3:25638315..25638328 [GRCh38] Chr3:25679806..25679819 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2863-7dup	duplication	not provided [RCV001511389]\|not specified [RCV003490277]	Chr3:25620066..25620067 [GRCh38] Chr3:25661557..25661558 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.459A>G (p.Val153=)	single nucleotide variant	not provided [RCV001511390]\|not specified [RCV003490278]	Chr3:25638247 [GRCh38] Chr3:25679738 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.80A>T (p.Asp27Val)	single nucleotide variant	not provided [RCV001479809]	Chr3:25645460 [GRCh38] Chr3:25686951 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1405+17T>A	single nucleotide variant	not provided [RCV001513587]	Chr3:25630784 [GRCh38] Chr3:25672275 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-5T>A	single nucleotide variant	not provided [RCV001498838]	Chr3:25638315 [GRCh38] Chr3:25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3900T>C (p.Gly1300=)	single nucleotide variant	not provided [RCV001419355]	Chr3:25609599 [GRCh38] Chr3:25651090 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1817A>G (p.Gln606Arg)	single nucleotide variant	not provided [RCV001473265]	Chr3:25628936 [GRCh38] Chr3:25670427 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-22_396-5del	deletion	TOP2B-related disorder [RCV003920979]\|not provided [RCV001462602]	Chr3:25638315..25638332 [GRCh38] Chr3:25679806..25679823 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2346+17G>A	single nucleotide variant	not provided [RCV001518691]\|not specified [RCV003487380]	Chr3:25624665 [GRCh38] Chr3:25666156 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-25_396-5del	deletion	not provided [RCV001475976]	Chr3:25638315..25638335 [GRCh38] Chr3:25679806..25679826 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.4472C>T (p.Thr1491Met)	single nucleotide variant	not provided [RCV001523502]	Chr3:25604777 [GRCh38] Chr3:25646268 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-14_396-5del	deletion	TOP2B-related disorder [RCV003966128]\|not provided [RCV001521411]	Chr3:25638315..25638324 [GRCh38] Chr3:25679806..25679815 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.3955A>G (p.Thr1319Ala)	single nucleotide variant	not provided [RCV001511219]	Chr3:25609321 [GRCh38] Chr3:25650812 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4851A>T (p.Glu1617Asp)	single nucleotide variant	not provided [RCV001511386]	Chr3:25598337 [GRCh38] Chr3:25639828 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4711-13dup	duplication	not provided [RCV001511387]\|not specified [RCV003490276]	Chr3:25598482..25598483 [GRCh38] Chr3:25639973..25639974 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-28_396-5del	deletion	not provided [RCV001393531]	Chr3:25638315..25638338 [GRCh38] Chr3:25679806..25679829 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1128+15A>G	single nucleotide variant	not provided [RCV001393899]	Chr3:25632678 [GRCh38] Chr3:25674169 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4715C>T (p.Pro1572Leu)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV002476814]\|not provided [RCV001512507]	Chr3:25598473 [GRCh38] Chr3:25639964 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.396-23_396-5del	deletion	TOP2B-related disorder [RCV003980419]\|not provided [RCV001485648]	Chr3:25638315..25638333 [GRCh38] Chr3:25679806..25679824 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4201C>T (p.Pro1401Ser)	single nucleotide variant	not provided [RCV001730321]	Chr3:25607268 [GRCh38] Chr3:25648759 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3940G>C (p.Val1314Leu)	single nucleotide variant	See cases [RCV001731178]	Chr3:25609336 [GRCh38] Chr3:25650827 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1776_1778del (p.Glu593del)	deletion	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV001775185]	Chr3:25629057..25629059 [GRCh38] Chr3:25670548..25670550 [GRCh37] Chr3:3p24.2	pathogenic
NM_001330700.2(TOP2B):c.816A>T (p.Arg272Ser)	single nucleotide variant	See cases [RCV001784136]	Chr3:25635972 [GRCh38] Chr3:25677463 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1468G>C (p.Ala490Pro)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV001775188]	Chr3:25630407 [GRCh38] Chr3:25671898 [GRCh37] Chr3:3p24.2	pathogenic
NM_001330700.2(TOP2B):c.1912G>A (p.Gly638Ser)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV001775187]	Chr3:25627291 [GRCh38] Chr3:25668782 [GRCh37] Chr3:3p24.2	pathogenic
NM_001330700.2(TOP2B):c.2366T>C (p.Ile789Thr)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV001795604]\|not provided [RCV003772185]	Chr3:25624426 [GRCh38] Chr3:25665917 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1463C>T (p.Ser488Leu)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV001775186]	Chr3:25630412 [GRCh38] Chr3:25671903 [GRCh37] Chr3:3p24.2	pathogenic
NM_001330700.2(TOP2B):c.2496-5A>G	single nucleotide variant	not provided [RCV001971035]	Chr3:25623751 [GRCh38] Chr3:25665242 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4258G>A (p.Glu1420Lys)	single nucleotide variant	not provided [RCV001950181]	Chr3:25607211 [GRCh38] Chr3:25648702 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4775C>A (p.Thr1592Asn)	single nucleotide variant	not provided [RCV001915528]	Chr3:25598413 [GRCh38] Chr3:25639904 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4162_4164del (p.Asp1388del)	deletion	not provided [RCV002045282]	Chr3:25607305..25607307 [GRCh38] Chr3:25648796..25648798 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.193C>A (p.Leu65Ile)	single nucleotide variant	not provided [RCV001864545]	Chr3:25645347 [GRCh38] Chr3:25686838 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.388A>G (p.Ile130Val)	single nucleotide variant	not provided [RCV001893618]\|not specified [RCV004041676]	Chr3:25642329 [GRCh38] Chr3:25683820 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1741A>C (p.Asn581His)	single nucleotide variant	not provided [RCV002025037]	Chr3:25629094 [GRCh38] Chr3:25670585 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4507A>C (p.Thr1503Pro)	single nucleotide variant	not provided [RCV001950218]	Chr3:25601208 [GRCh38] Chr3:25642699 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4314C>A (p.Asp1438Glu)	single nucleotide variant	not provided [RCV001929913]\|not specified [RCV004040318]	Chr3:25606107 [GRCh38] Chr3:25647598 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.650A>G (p.Asn217Ser)	single nucleotide variant	not provided [RCV002025059]	Chr3:25636138 [GRCh38] Chr3:25677629 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4138G>A (p.Asp1380Asn)	single nucleotide variant	not provided [RCV002002811]	Chr3:25607331 [GRCh38] Chr3:25648822 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2756C>T (p.Thr919Met)	single nucleotide variant	not provided [RCV001913052]	Chr3:25620788 [GRCh38] Chr3:25662279 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1026+6_1026+9del	microsatellite	not provided [RCV001914527]	Chr3:25633832..25633835 [GRCh38] Chr3:25675323..25675326 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4733A>G (p.Asp1578Gly)	single nucleotide variant	not provided [RCV002025062]\|not specified [RCV004042472]	Chr3:25598455 [GRCh38] Chr3:25639946 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4621G>C (p.Gly1541Arg)	single nucleotide variant	not provided [RCV002025514]	Chr3:25599524 [GRCh38] Chr3:25641015 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2317G>T (p.Ala773Ser)	single nucleotide variant	not provided [RCV002024600]	Chr3:25624711 [GRCh38] Chr3:25666202 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3482A>G (p.Glu1161Gly)	single nucleotide variant	not provided [RCV001872613]	Chr3:25615456 [GRCh38] Chr3:25656947 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4085G>C (p.Arg1362Thr)	single nucleotide variant	not provided [RCV001928777]	Chr3:25609191 [GRCh38] Chr3:25650682 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.131A>C (p.Asp44Ala)	single nucleotide variant	not provided [RCV002005337]	Chr3:25645409 [GRCh38] Chr3:25686900 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.137C>T (p.Ser46Leu)	single nucleotide variant	not provided [RCV001966454]	Chr3:25645403 [GRCh38] Chr3:25686894 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3512G>A (p.Arg1171Gln)	single nucleotide variant	not provided [RCV002006789]	Chr3:25615284 [GRCh38] Chr3:25656775 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3868G>A (p.Ala1290Thr)	single nucleotide variant	not provided [RCV001908259]\|not specified [RCV004039055]	Chr3:25609631 [GRCh38] Chr3:25651122 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4738G>A (p.Asp1580Asn)	single nucleotide variant	not provided [RCV001946173]	Chr3:25598450 [GRCh38] Chr3:25639941 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2806G>A (p.Val936Ile)	single nucleotide variant	not provided [RCV002004972]	Chr3:25620738 [GRCh38] Chr3:25662229 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1375A>G (p.Ile459Val)	single nucleotide variant	not provided [RCV001909442]	Chr3:25630831 [GRCh38] Chr3:25672322 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4193A>T (p.Lys1398Ile)	single nucleotide variant	not provided [RCV001914338]\|not specified [RCV004044063]	Chr3:25607276 [GRCh38] Chr3:25648767 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4799C>T (p.Thr1600Ile)	single nucleotide variant	not provided [RCV002040130]	Chr3:25598389 [GRCh38] Chr3:25639880 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	copy number gain	not specified [RCV002053300]	Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	copy number loss	not specified [RCV002053334]	Chr3:25045365..32691140 [GRCh37] Chr3:3p24.2-22.3	likely pathogenic
NM_001330700.2(TOP2B):c.639+6C>T	single nucleotide variant	not provided [RCV001969518]	Chr3:25637209 [GRCh38] Chr3:25678700 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1868T>C (p.Ile623Thr)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV004764854]\|not provided [RCV002044316]	Chr3:25628885 [GRCh38] Chr3:25670376 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.660G>A (p.Met220Ile)	single nucleotide variant	not provided [RCV001966534]\|not specified [RCV004044629]	Chr3:25636128 [GRCh38] Chr3:25677619 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4165AAT[1] (p.Asn1390del)	microsatellite	not provided [RCV002020756]	Chr3:25607299..25607301 [GRCh38] Chr3:25648790..25648792 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3677A>G (p.Lys1226Arg)	single nucleotide variant	not provided [RCV001949207]	Chr3:25612624 [GRCh38] Chr3:25654115 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4397G>C (p.Ser1466Thr)	single nucleotide variant	not provided [RCV001947253]	Chr3:25604852 [GRCh38] Chr3:25646343 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3560A>T (p.Glu1187Val)	single nucleotide variant	not provided [RCV001891947]	Chr3:25615236 [GRCh38] Chr3:25656727 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4669G>A (p.Asp1557Asn)	single nucleotide variant	not provided [RCV001895131]\|not specified [RCV004041206]	Chr3:25599476 [GRCh38] Chr3:25640967 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4801G>A (p.Gly1601Ser)	single nucleotide variant	not provided [RCV001892116]\|not specified [RCV004041172]	Chr3:25598387 [GRCh38] Chr3:25639878 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3362A>G (p.Glu1121Gly)	single nucleotide variant	not provided [RCV002006957]	Chr3:25615576 [GRCh38] Chr3:25657067 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.811T>A (p.Cys271Ser)	single nucleotide variant	not provided [RCV001967031]	Chr3:25635977 [GRCh38] Chr3:25677468 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.412A>G (p.Ser138Gly)	single nucleotide variant	not provided [RCV002043867]	Chr3:25638294 [GRCh38] Chr3:25679785 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2970G>A (p.Val990=)	single nucleotide variant	not provided [RCV002042977]	Chr3:25619955 [GRCh38] Chr3:25661446 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2533A>T (p.Asn845Tyr)	single nucleotide variant	not provided [RCV001948705]\|not specified [RCV004042986]	Chr3:25623709 [GRCh38] Chr3:25665200 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.517G>A (p.Asp173Asn)	single nucleotide variant	not provided [RCV001892381]\|not specified [RCV004041280]	Chr3:25638189 [GRCh38] Chr3:25679680 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.712A>G (p.Ile238Val)	single nucleotide variant	not provided [RCV001909934]	Chr3:25636076 [GRCh38] Chr3:25677567 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4508C>T (p.Thr1503Ile)	single nucleotide variant	not provided [RCV001913135]	Chr3:25601207 [GRCh38] Chr3:25642698 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1632T>A (p.Asp544Glu)	single nucleotide variant	not provided [RCV001911529]	Chr3:25630086 [GRCh38] Chr3:25671577 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2399A>G (p.Asn800Ser)	single nucleotide variant	not provided [RCV001966464]\|not specified [RCV004044626]	Chr3:25624393 [GRCh38] Chr3:25665884 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3569C>T (p.Ala1190Val)	single nucleotide variant	not provided [RCV002004192]	Chr3:25615227 [GRCh38] Chr3:25656718 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.89A>G (p.Asn30Ser)	single nucleotide variant	not provided [RCV001945611]	Chr3:25645451 [GRCh38] Chr3:25686942 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1274A>G (p.Asn425Ser)	single nucleotide variant	not provided [RCV001907322]	Chr3:25630932 [GRCh38] Chr3:25672423 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.403A>G (p.Asn135Asp)	single nucleotide variant	not provided [RCV001944051]	Chr3:25638303 [GRCh38] Chr3:25679794 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2745C>G (p.Asn915Lys)	single nucleotide variant	not provided [RCV001944399]	Chr3:25620799 [GRCh38] Chr3:25662290 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4439G>A (p.Gly1480Asp)	single nucleotide variant	not provided [RCV002046970]	Chr3:25604810 [GRCh38] Chr3:25646301 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4851_4856dup (p.Glu1617_Asp1618dup)	duplication	not provided [RCV002035199]	Chr3:25598331..25598332 [GRCh38] Chr3:25639822..25639823 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2077C>G (p.Arg693Gly)	single nucleotide variant	not provided [RCV001882259]	Chr3:25626804 [GRCh38] Chr3:25668295 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.239A>G (p.Gln80Arg)	single nucleotide variant	not provided [RCV002031124]	Chr3:25645301 [GRCh38] Chr3:25686792 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.971T>G (p.Leu324Trp)	single nucleotide variant	not provided [RCV002017944]	Chr3:25633896 [GRCh38] Chr3:25675387 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1808A>G (p.Lys603Arg)	single nucleotide variant	not provided [RCV001944303]	Chr3:25628945 [GRCh38] Chr3:25670436 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.378T>G (p.Ile126Met)	single nucleotide variant	not provided [RCV001877804]	Chr3:25642339 [GRCh38] Chr3:25683830 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4759C>G (p.Pro1587Ala)	single nucleotide variant	not provided [RCV002028581]	Chr3:25598429 [GRCh38] Chr3:25639920 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.55G>A (p.Ala19Thr)	single nucleotide variant	TOP2B-related disorder [RCV003418329]\|not provided [RCV002038235]	Chr3:25664243 [GRCh38] Chr3:25705734 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4227A>T (p.Glu1409Asp)	single nucleotide variant	not provided [RCV002013543]\|not specified [RCV004046221]	Chr3:25607242 [GRCh38] Chr3:25648733 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4224T>G (p.Asp1408Glu)	single nucleotide variant	not provided [RCV001918727]\|not specified [RCV004043311]	Chr3:25607245 [GRCh38] Chr3:25648736 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2685C>A (p.Asn895Lys)	single nucleotide variant	not provided [RCV001963642]	Chr3:25623557 [GRCh38] Chr3:25665048 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.677A>G (p.Lys226Arg)	single nucleotide variant	not provided [RCV002020224]	Chr3:25636111 [GRCh38] Chr3:25677602 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2087G>A (p.Arg696His)	single nucleotide variant	not provided [RCV001916575]	Chr3:25626794 [GRCh38] Chr3:25668285 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.82C>T (p.Gln28Ter)	single nucleotide variant	not provided [RCV001935853]	Chr3:25645458 [GRCh38] Chr3:25686949 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4625G>A (p.Arg1542Gln)	single nucleotide variant	not provided [RCV001977031]	Chr3:25599520 [GRCh38] Chr3:25641011 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3616G>C (p.Asp1206His)	single nucleotide variant	not provided [RCV001877910]	Chr3:25612685 [GRCh38] Chr3:25654176 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4339C>A (p.Leu1447Ile)	single nucleotide variant	not provided [RCV001897083]\|not specified [RCV004042556]	Chr3:25606082 [GRCh38] Chr3:25647573 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3787-15_3787-10del	deletion	not provided [RCV001932955]	Chr3:25609722..25609727 [GRCh38] Chr3:25651213..25651218 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.3971_3972delinsGA (p.Pro1324Arg)	indel	not provided [RCV001881851]	Chr3:25609304..25609305 [GRCh38] Chr3:25650795..25650796 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.40G>A (p.Gly14Ser)	single nucleotide variant	not provided [RCV001903394]	Chr3:25664258 [GRCh38] Chr3:25705749 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.409A>G (p.Ile137Val)	single nucleotide variant	not provided [RCV001904038]	Chr3:25638297 [GRCh38] Chr3:25679788 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1800+4C>A	single nucleotide variant	not provided [RCV002015904]	Chr3:25629031 [GRCh38] Chr3:25670522 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3928C>A (p.Pro1310Thr)	single nucleotide variant	not provided [RCV002009863]	Chr3:25609571 [GRCh38] Chr3:25651062 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4146TGA[7] (p.Asp1388dup)	microsatellite	not provided [RCV001952617]	Chr3:25607305..25607306 [GRCh38] Chr3:25648796..25648797 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4489+5G>T	single nucleotide variant	not provided [RCV001917439]	Chr3:25604755 [GRCh38] Chr3:25646246 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3710C>T (p.Pro1237Leu)	single nucleotide variant	not provided [RCV002027919]	Chr3:25612591 [GRCh38] Chr3:25654082 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2423T>C (p.Ile808Thr)	single nucleotide variant	not provided [RCV002049067]	Chr3:25624369 [GRCh38] Chr3:25665860 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.41G>C (p.Gly14Ala)	single nucleotide variant	not provided [RCV001937490]	Chr3:25664257 [GRCh38] Chr3:25705748 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2365A>G (p.Ile789Val)	single nucleotide variant	not provided [RCV001867047]	Chr3:25624427 [GRCh38] Chr3:25665918 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4828T>C (p.Phe1610Leu)	single nucleotide variant	not provided [RCV001923243]	Chr3:25598360 [GRCh38] Chr3:25639851 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3400G>A (p.Asp1134Asn)	single nucleotide variant	not provided [RCV001903697]	Chr3:25615538 [GRCh38] Chr3:25657029 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3288A>C (p.Gln1096His)	single nucleotide variant	not provided [RCV001960261]	Chr3:25618481 [GRCh38] Chr3:25659972 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4710+6C>T	single nucleotide variant	not provided [RCV001981700]	Chr3:25599429 [GRCh38] Chr3:25640920 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4661A>G (p.Asn1554Ser)	single nucleotide variant	not provided [RCV001995611]	Chr3:25599484 [GRCh38] Chr3:25640975 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4711-4C>G	single nucleotide variant	not provided [RCV002029607]	Chr3:25598481 [GRCh38] Chr3:25639972 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.1361G>A (p.Ser454Asn)	single nucleotide variant	not provided [RCV002035040]	Chr3:25630845 [GRCh38] Chr3:25672336 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4590T>G (p.Ile1530Met)	single nucleotide variant	not provided [RCV002027182]	Chr3:25601125 [GRCh38] Chr3:25642616 [GRCh37] Chr3:3p24.2	uncertain significance
NC_000003.11:g.(?_16710965)_(41275270_?)del	deletion	not provided [RCV001958625]	Chr3:16710965..41275270 [GRCh37] Chr3:3p24.3-22.1	pathogenic
NM_001330700.2(TOP2B):c.4700CAA[1] (p.Thr1568del)	microsatellite	not provided [RCV001936337]	Chr3:25599440..25599442 [GRCh38] Chr3:25640931..25640933 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.753A>C (p.Lys251Asn)	single nucleotide variant	not provided [RCV001961081]	Chr3:25636035 [GRCh38] Chr3:25677526 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4316A>G (p.Lys1439Arg)	single nucleotide variant	not provided [RCV001864865]	Chr3:25606105 [GRCh38] Chr3:25647596 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1865A>G (p.His622Arg)	single nucleotide variant	not provided [RCV001952559]	Chr3:25628888 [GRCh38] Chr3:25670379 [GRCh37] Chr3:3p24.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001330700.2(TOP2B):c.4859T>A (p.Val1620Asp)	single nucleotide variant	not provided [RCV002017433]	Chr3:25598329 [GRCh38] Chr3:25639820 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.130G>A (p.Asp44Asn)	single nucleotide variant	not provided [RCV001925466]	Chr3:25645410 [GRCh38] Chr3:25686901 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3366T>G (p.Asp1122Glu)	single nucleotide variant	not provided [RCV001877115]	Chr3:25615572 [GRCh38] Chr3:25657063 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3154G>A (p.Gly1052Ser)	single nucleotide variant	not provided [RCV001881866]\|not specified [RCV004039162]	Chr3:25618759 [GRCh38] Chr3:25660250 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4148A>C (p.Asp1383Ala)	single nucleotide variant	not provided [RCV001907311]\|not specified [RCV004039757]	Chr3:25607321 [GRCh38] Chr3:25648812 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4507A>T (p.Thr1503Ser)	single nucleotide variant	not provided [RCV001952724]\|not specified [RCV004042108]	Chr3:25601208 [GRCh38] Chr3:25642699 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.647T>A (p.Met216Lys)	single nucleotide variant	not provided [RCV001870145]\|not specified [RCV004686692]	Chr3:25636141 [GRCh38] Chr3:25677632 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2890A>G (p.Met964Val)	single nucleotide variant	not provided [RCV001938931]	Chr3:25620035 [GRCh38] Chr3:25661526 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3779A>T (p.Lys1260Met)	single nucleotide variant	not provided [RCV001886200]	Chr3:25612522 [GRCh38] Chr3:25654013 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4724C>T (p.Thr1575Ile)	single nucleotide variant	not provided [RCV002046525]	Chr3:25598464 [GRCh38] Chr3:25639955 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4060A>C (p.Ile1354Leu)	single nucleotide variant	not provided [RCV002030540]	Chr3:25609216 [GRCh38] Chr3:25650707 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.121A>G (p.Asn41Asp)	single nucleotide variant	not provided [RCV001932894]	Chr3:25645419 [GRCh38] Chr3:25686910 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3626C>T (p.Ala1209Val)	single nucleotide variant	not provided [RCV001936942]\|not specified [RCV004043114]	Chr3:25612675 [GRCh38] Chr3:25654166 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.699A>C (p.Glu233Asp)	single nucleotide variant	not provided [RCV002034211]	Chr3:25636089 [GRCh38] Chr3:25677580 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.607_608delinsTT (p.Ala203Phe)	indel	not provided [RCV002015978]	Chr3:25637246..25637247 [GRCh38] Chr3:25678737..25678738 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2099G>T (p.Gly700Val)	single nucleotide variant	not provided [RCV001998709]	Chr3:25626782 [GRCh38] Chr3:25668273 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.973A>G (p.Ser325Gly)	single nucleotide variant	not provided [RCV002031511]	Chr3:25633894 [GRCh38] Chr3:25675385 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4845AGA[2] (p.Glu1617del)	microsatellite	not provided [RCV001939851]	Chr3:25598335..25598337 [GRCh38] Chr3:25639826..25639828 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4710+5C>T	single nucleotide variant	not provided [RCV001972948]	Chr3:25599430 [GRCh38] Chr3:25640921 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4450A>G (p.Thr1484Ala)	single nucleotide variant	TOP2B-related disorder [RCV003968680]\|not provided [RCV001996059]	Chr3:25604799 [GRCh38] Chr3:25646290 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4146TGA[5] (p.Asp1388del)	microsatellite	not provided [RCV001916009]	Chr3:25607306..25607308 [GRCh38] Chr3:25648797..25648799 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3582A>C (p.Glu1194Asp)	single nucleotide variant	not provided [RCV002016715]	Chr3:25615214 [GRCh38] Chr3:25656705 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4204A>T (p.Ile1402Leu)	single nucleotide variant	not provided [RCV001898532]	Chr3:25607265 [GRCh38] Chr3:25648756 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4711-7_4711-6insT	insertion	not provided [RCV001877658]	Chr3:25598483..25598484 [GRCh38] Chr3:25639974..25639975 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.4697A>G (p.Lys1566Arg)	single nucleotide variant	not provided [RCV001875648]	Chr3:25599448 [GRCh38] Chr3:25640939 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1051G>T (p.Val351Leu)	single nucleotide variant	not provided [RCV001994087]	Chr3:25632770 [GRCh38] Chr3:25674261 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1017A>G (p.Ala339=)	single nucleotide variant	not provided [RCV002075281]	Chr3:25633850 [GRCh38] Chr3:25675341 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4200T>A (p.Ser1400=)	single nucleotide variant	not provided [RCV002088882]	Chr3:25607269 [GRCh38] Chr3:25648760 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4513C>A (p.Pro1505Thr)	single nucleotide variant	TOP2B-related disorder [RCV003911220]\|not provided [RCV002168237]	Chr3:25601202 [GRCh38] Chr3:25642693 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.4093+20A>G	single nucleotide variant	not provided [RCV002125466]	Chr3:25609163 [GRCh38] Chr3:25650654 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.69+20G>A	single nucleotide variant	not provided [RCV002192238]	Chr3:25664209 [GRCh38] Chr3:25705700 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1380C>T (p.Pro460=)	single nucleotide variant	not provided [RCV002148434]	Chr3:25630826 [GRCh38] Chr3:25672317 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1406-15T>C	single nucleotide variant	not provided [RCV002166323]	Chr3:25630484 [GRCh38] Chr3:25671975 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1689+17C>A	single nucleotide variant	not provided [RCV002185094]	Chr3:25630012 [GRCh38] Chr3:25671503 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2328G>T (p.Ser776=)	single nucleotide variant	not provided [RCV002104553]	Chr3:25624700 [GRCh38] Chr3:25666191 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4299-3T>C	single nucleotide variant	not provided [RCV002170035]	Chr3:25606125 [GRCh38] Chr3:25647616 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-12_396-5del	deletion	not provided [RCV002106156]	Chr3:25638315..25638322 [GRCh38] Chr3:25679806..25679813 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.639+14A>G	single nucleotide variant	not provided [RCV002208936]	Chr3:25637201 [GRCh38] Chr3:25678692 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1473G>T (p.Val491=)	single nucleotide variant	not provided [RCV002207435]	Chr3:25630402 [GRCh38] Chr3:25671893 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4326G>A (p.Gln1442=)	single nucleotide variant	not provided [RCV002129512]	Chr3:25606095 [GRCh38] Chr3:25647586 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4716G>A (p.Pro1572=)	single nucleotide variant	not provided [RCV002109600]	Chr3:25598472 [GRCh38] Chr3:25639963 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4711-19C>G	single nucleotide variant	not provided [RCV002186814]	Chr3:25598496 [GRCh38] Chr3:25639987 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1605T>C (p.Val535=)	single nucleotide variant	not provided [RCV002072709]	Chr3:25630113 [GRCh38] Chr3:25671604 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.145T>C (p.Leu49=)	single nucleotide variant	not provided [RCV002129290]	Chr3:25645395 [GRCh38] Chr3:25686886 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-27_396-5del	deletion	not provided [RCV002111771]	Chr3:25638315..25638337 [GRCh38] Chr3:25679806..25679828 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.42C>A (p.Gly14=)	single nucleotide variant	not provided [RCV002085772]	Chr3:25664256 [GRCh38] Chr3:25705747 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1406-11A>C	single nucleotide variant	not provided [RCV002110283]	Chr3:25630480 [GRCh38] Chr3:25671971 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-11_396-5del	deletion	TOP2B-related disorder [RCV003923447]\|not provided [RCV002090271]	Chr3:25638315..25638321 [GRCh38] Chr3:25679806..25679812 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.396-40_396-5dup	duplication	not provided [RCV002148367]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-4A>T	single nucleotide variant	not provided [RCV002190709]	Chr3:25638314 [GRCh38] Chr3:25679805 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3660T>C (p.Val1220=)	single nucleotide variant	not provided [RCV002148734]	Chr3:25612641 [GRCh38] Chr3:25654132 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.69+17C>G	single nucleotide variant	not provided [RCV002207329]	Chr3:25664212 [GRCh38] Chr3:25705703 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4298+18G>A	single nucleotide variant	not provided [RCV002189132]	Chr3:25607153 [GRCh38] Chr3:25648644 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.55G>C (p.Ala19Pro)	single nucleotide variant	not provided [RCV002207475]\|not specified [RCV004045628]	Chr3:25664243 [GRCh38] Chr3:25705734 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.1027-16del	deletion	not provided [RCV002147610]	Chr3:25632810 [GRCh38] Chr3:25674301 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4298+13A>G	single nucleotide variant	not provided [RCV002207693]	Chr3:25607158 [GRCh38] Chr3:25648649 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2109+14A>C	single nucleotide variant	not provided [RCV002086808]	Chr3:25626758 [GRCh38] Chr3:25668249 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3018G>A (p.Leu1006=)	single nucleotide variant	not provided [RCV002127904]	Chr3:25619907 [GRCh38] Chr3:25661398 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.1027-7dup	duplication	not provided [RCV002091191]	Chr3:25632800..25632801 [GRCh38] Chr3:25674291..25674292 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.873T>C (p.Tyr291=)	single nucleotide variant	not provided [RCV002108417]	Chr3:25633994 [GRCh38] Chr3:25675485 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-5T>C	single nucleotide variant	not provided [RCV002091596]	Chr3:25638315 [GRCh38] Chr3:25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4668C>T (p.Gly1556=)	single nucleotide variant	not provided [RCV002105312]	Chr3:25599477 [GRCh38] Chr3:25640968 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2496-14T>C	single nucleotide variant	not provided [RCV002216136]	Chr3:25623760 [GRCh38] Chr3:25665251 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1725T>C (p.Ile575=)	single nucleotide variant	not provided [RCV002135110]	Chr3:25629110 [GRCh38] Chr3:25670601 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4449G>A (p.Gln1483=)	single nucleotide variant	not provided [RCV002079410]	Chr3:25604800 [GRCh38] Chr3:25646291 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.675C>G (p.Ala225=)	single nucleotide variant	not provided [RCV002094085]	Chr3:25636113 [GRCh38] Chr3:25677604 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1027-14T>C	single nucleotide variant	not provided [RCV002077817]	Chr3:25632808 [GRCh38] Chr3:25674299 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.264T>C (p.Asp88=)	single nucleotide variant	not provided [RCV002205148]	Chr3:25643761 [GRCh38] Chr3:25685252 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.629G>A (p.Ser210Asn)	single nucleotide variant	not provided [RCV002212165]\|not specified [RCV004045594]	Chr3:25637225 [GRCh38] Chr3:25678716 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.3259+8dup	duplication	not provided [RCV002131066]	Chr3:25618645..25618646 [GRCh38] Chr3:25660136..25660137 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.210A>G (p.Thr70=)	single nucleotide variant	not provided [RCV002190091]	Chr3:25645330 [GRCh38] Chr3:25686821 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2017-20C>T	single nucleotide variant	not provided [RCV002131328]	Chr3:25626884 [GRCh38] Chr3:25668375 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.444A>G (p.Val148=)	single nucleotide variant	not provided [RCV002215020]	Chr3:25638262 [GRCh38] Chr3:25679753 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-22_396-5dup	duplication	not provided [RCV002131437]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2225-16G>A	single nucleotide variant	not provided [RCV002089898]	Chr3:25624819 [GRCh38] Chr3:25666310 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.546T>C (p.Gly182=)	single nucleotide variant	not provided [RCV002078419]	Chr3:25637308 [GRCh38] Chr3:25678799 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.640-18A>C	single nucleotide variant	not provided [RCV002215784]	Chr3:25636166 [GRCh38] Chr3:25677657 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1563+15G>A	single nucleotide variant	not provided [RCV002097435]	Chr3:25630297 [GRCh38] Chr3:25671788 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4615+13T>C	single nucleotide variant	not provided [RCV002185913]	Chr3:25601087 [GRCh38] Chr3:25642578 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1731C>T (p.Phe577=)	single nucleotide variant	TOP2B-related disorder [RCV003951176]\|not provided [RCV002108700]	Chr3:25629104 [GRCh38] Chr3:25670595 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.1683C>T (p.Thr561=)	single nucleotide variant	not provided [RCV002208962]	Chr3:25630035 [GRCh38] Chr3:25671526 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2871A>G (p.Lys957=)	single nucleotide variant	not provided [RCV002095678]	Chr3:25620054 [GRCh38] Chr3:25661545 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4711-14G>A	single nucleotide variant	not provided [RCV002110463]	Chr3:25598491 [GRCh38] Chr3:25639982 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2919A>C (p.Ala973=)	single nucleotide variant	not provided [RCV002211489]	Chr3:25620006 [GRCh38] Chr3:25661497 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4441C>T (p.Leu1481=)	single nucleotide variant	not provided [RCV002114375]	Chr3:25604808 [GRCh38] Chr3:25646299 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4615+19T>C	single nucleotide variant	not provided [RCV002149473]	Chr3:25601081 [GRCh38] Chr3:25642572 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-36_396-5dup	duplication	not provided [RCV002196455]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4266A>G (p.Thr1422=)	single nucleotide variant	not provided [RCV002116377]	Chr3:25607203 [GRCh38] Chr3:25648694 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4047A>G (p.Thr1349=)	single nucleotide variant	not provided [RCV002150972]	Chr3:25609229 [GRCh38] Chr3:25650720 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2346+14T>C	single nucleotide variant	not provided [RCV002149084]	Chr3:25624668 [GRCh38] Chr3:25666159 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-19_396-5dup	duplication	not provided [RCV002106627]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-15T>A	single nucleotide variant	not provided [RCV002127760]	Chr3:25638325 [GRCh38] Chr3:25679816 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-16T>A	single nucleotide variant	not provided [RCV002127761]	Chr3:25638326 [GRCh38] Chr3:25679817 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3570G>A (p.Ala1190=)	single nucleotide variant	not provided [RCV002174116]	Chr3:25615226 [GRCh38] Chr3:25656717 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-26_396-5del	deletion	not provided [RCV002107919]	Chr3:25638315..25638336 [GRCh38] Chr3:25679806..25679827 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.4524G>A (p.Lys1508=)	single nucleotide variant	not provided [RCV002076266]	Chr3:25601191 [GRCh38] Chr3:25642682 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1563+7_1563+8del	deletion	not provided [RCV002194179]	Chr3:25630304..25630305 [GRCh38] Chr3:25671795..25671796 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4711-17A>G	single nucleotide variant	not provided [RCV002194351]	Chr3:25598494 [GRCh38] Chr3:25639985 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-28_396-5dup	duplication	not provided [RCV002128159]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-12T>A	single nucleotide variant	not provided [RCV002133360]	Chr3:25638322 [GRCh38] Chr3:25679813 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2766A>G (p.Glu922=)	single nucleotide variant	not provided [RCV002169588]	Chr3:25620778 [GRCh38] Chr3:25662269 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.462G>A (p.Glu154=)	single nucleotide variant	not provided [RCV002116040]	Chr3:25638244 [GRCh38] Chr3:25679735 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.396-17_396-5dup	duplication	not provided [RCV002153137]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1267-13C>T	single nucleotide variant	not provided [RCV002092199]	Chr3:25630952 [GRCh38] Chr3:25672443 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-13_396-5del	deletion	TOP2B-related disorder [RCV003913772]\|not provided [RCV002171276]	Chr3:25638315..25638323 [GRCh38] Chr3:25679806..25679814 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.4695C>G (p.Ser1565=)	single nucleotide variant	not provided [RCV002087648]	Chr3:25599450 [GRCh38] Chr3:25640941 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-26_396-5dup	duplication	not provided [RCV002125783]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3786+11C>A	single nucleotide variant	not provided [RCV002114319]	Chr3:25612504 [GRCh38] Chr3:25653995 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.3650A>G (p.Lys1217Arg)	single nucleotide variant	not provided [RCV002095128]	Chr3:25612651 [GRCh38] Chr3:25654142 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.867C>T (p.Arg289=)	single nucleotide variant	not provided [RCV002093417]	Chr3:25634000 [GRCh38] Chr3:25675491 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3138A>G (p.Leu1046=)	single nucleotide variant	not provided [RCV002152693]	Chr3:25618775 [GRCh38] Chr3:25660266 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.927T>G (p.Val309=)	single nucleotide variant	TOP2B-related disorder [RCV003971052]\|not provided [RCV002121344]	Chr3:25633940 [GRCh38] Chr3:25675431 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-34_396-5dup	duplication	not provided [RCV002103680]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2616T>C (p.Asn872=)	single nucleotide variant	not provided [RCV002175346]	Chr3:25623626 [GRCh38] Chr3:25665117 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1800+4C>T	single nucleotide variant	not provided [RCV002100602]	Chr3:25629031 [GRCh38] Chr3:25670522 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2586T>C (p.Tyr862=)	single nucleotide variant	not provided [RCV002156416]	Chr3:25623656 [GRCh38] Chr3:25665147 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4095C>T (p.Ala1365=)	single nucleotide variant	not provided [RCV002098731]	Chr3:25607374 [GRCh38] Chr3:25648865 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.1801-8A>C	single nucleotide variant	not provided [RCV002098916]	Chr3:25628960 [GRCh38] Chr3:25670451 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2862+15G>A	single nucleotide variant	not provided [RCV002138549]	Chr3:25620667 [GRCh38] Chr3:25662158 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.876A>G (p.Val292=)	single nucleotide variant	not provided [RCV002155298]	Chr3:25633991 [GRCh38] Chr3:25675482 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1689+20C>T	single nucleotide variant	not provided [RCV002155302]	Chr3:25630009 [GRCh38] Chr3:25671500 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3288A>G (p.Gln1096=)	single nucleotide variant	not provided [RCV002184427]	Chr3:25618481 [GRCh38] Chr3:25659972 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2109+18G>T	single nucleotide variant	not provided [RCV002099781]	Chr3:25626754 [GRCh38] Chr3:25668245 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-21_396-5dup	duplication	not provided [RCV002123157]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1026+17T>C	single nucleotide variant	not provided [RCV002177138]	Chr3:25633824 [GRCh38] Chr3:25675315 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1629C>T (p.Tyr543=)	single nucleotide variant	not provided [RCV002175394]	Chr3:25630089 [GRCh38] Chr3:25671580 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2148T>C (p.Tyr716=)	single nucleotide variant	not provided [RCV002175454]	Chr3:25626636 [GRCh38] Chr3:25668127 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2110-20C>A	single nucleotide variant	not provided [RCV002199849]	Chr3:25626694 [GRCh38] Chr3:25668185 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2863-19A>C	single nucleotide variant	not provided [RCV002163348]	Chr3:25620081 [GRCh38] Chr3:25661572 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.970T>C (p.Leu324=)	single nucleotide variant	not provided [RCV002137871]	Chr3:25633897 [GRCh38] Chr3:25675388 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2728-8C>A	single nucleotide variant	not provided [RCV002081973]	Chr3:25620824 [GRCh38] Chr3:25662315 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1473G>A (p.Val491=)	single nucleotide variant	not provided [RCV002143495]	Chr3:25630402 [GRCh38] Chr3:25671893 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2478T>C (p.Tyr826=)	single nucleotide variant	not provided [RCV002176046]	Chr3:25624314 [GRCh38] Chr3:25665805 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3787-10del	deletion	not provided [RCV002139992]	Chr3:25609722 [GRCh38] Chr3:25651213 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.396-14T>A	single nucleotide variant	not provided [RCV002118635]	Chr3:25638324 [GRCh38] Chr3:25679815 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-15_396-5dup	duplication	not provided [RCV002204726]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2225-9T>C	single nucleotide variant	not provided [RCV002142371]	Chr3:25624812 [GRCh38] Chr3:25666303 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4711-7_4711-6dup	duplication	not provided [RCV002136775]	Chr3:25598482..25598483 [GRCh38] Chr3:25639973..25639974 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.810G>A (p.Ser270=)	single nucleotide variant	not provided [RCV002142504]	Chr3:25635978 [GRCh38] Chr3:25677469 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.69+14C>A	single nucleotide variant	not provided [RCV002144147]	Chr3:25664215 [GRCh38] Chr3:25705706 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4616-20A>T	single nucleotide variant	not provided [RCV002099520]	Chr3:25599549 [GRCh38] Chr3:25641040 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2110-6T>C	single nucleotide variant	not provided [RCV002180542]	Chr3:25626680 [GRCh38] Chr3:25668171 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-18_396-5dup	duplication	not provided [RCV002082986]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.541+7dup	duplication	not provided [RCV002097819]	Chr3:25638157..25638158 [GRCh38] Chr3:25679648..25679649 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2017-19G>A	single nucleotide variant	not provided [RCV002122747]	Chr3:25626883 [GRCh38] Chr3:25668374 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.331+10T>C	single nucleotide variant	not provided [RCV002203038]	Chr3:25643684 [GRCh38] Chr3:25685175 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.853G>T (p.Val285Leu)	single nucleotide variant	not provided [RCV002103398]\|not specified [RCV004045821]	Chr3:25634014 [GRCh38] Chr3:25675505 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.3787-4G>A	single nucleotide variant	not provided [RCV002182397]	Chr3:25609716 [GRCh38] Chr3:25651207 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-16_396-5dup	duplication	not provided [RCV002101924]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2077C>A (p.Arg693=)	single nucleotide variant	not provided [RCV002203109]	Chr3:25626804 [GRCh38] Chr3:25668295 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.297G>C (p.Val99=)	single nucleotide variant	not provided [RCV002200071]	Chr3:25643728 [GRCh38] Chr3:25685219 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4497G>A (p.Pro1499=)	single nucleotide variant	not provided [RCV002102215]	Chr3:25601218 [GRCh38] Chr3:25642709 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1690-16A>G	single nucleotide variant	not provided [RCV002141050]	Chr3:25629161 [GRCh38] Chr3:25670652 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-21_396-5del	deletion	not provided [RCV002123389]	Chr3:25638315..25638331 [GRCh38] Chr3:25679806..25679822 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-15_396-14inv	inversion	not provided [RCV002181211]	Chr3:25638324..25638325 [GRCh38] Chr3:25679815..25679816 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4489+8C>T	single nucleotide variant	not provided [RCV002181222]	Chr3:25604752 [GRCh38] Chr3:25646243 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1500C>T (p.Asp500=)	single nucleotide variant	not provided [RCV002198792]	Chr3:25630375 [GRCh38] Chr3:25671866 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1521C>T (p.Leu507=)	single nucleotide variant	not provided [RCV002101194]	Chr3:25630354 [GRCh38] Chr3:25671845 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.243C>T (p.Phe81=)	single nucleotide variant	not provided [RCV002201149]	Chr3:25643782 [GRCh38] Chr3:25685273 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.639+11_639+12del	deletion	not provided [RCV002140193]	Chr3:25637203..25637204 [GRCh38] Chr3:25678694..25678695 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1563+13G>T	single nucleotide variant	not provided [RCV002143786]	Chr3:25630299 [GRCh38] Chr3:25671790 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1690-13A>G	single nucleotide variant	not provided [RCV002202906]	Chr3:25629158 [GRCh38] Chr3:25670649 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.999C>T (p.Ser333=)	single nucleotide variant	not provided [RCV002161588]	Chr3:25633868 [GRCh38] Chr3:25675359 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4262A>G (p.Tyr1421Cys)	single nucleotide variant	not provided [RCV002161670]	Chr3:25607207 [GRCh38] Chr3:25648698 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1614A>G (p.Gln538=)	single nucleotide variant	not provided [RCV002081620]	Chr3:25630104 [GRCh38] Chr3:25671595 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2016+9G>C	single nucleotide variant	not provided [RCV002159498]	Chr3:25627178 [GRCh38] Chr3:25668669 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.708A>G (p.Thr236=)	single nucleotide variant	not provided [RCV002143229]	Chr3:25636080 [GRCh38] Chr3:25677571 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1464A>G (p.Ser488=)	single nucleotide variant	not provided [RCV002218704]	Chr3:25630411 [GRCh38] Chr3:25671902 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4378+9A>G	single nucleotide variant	not provided [RCV002157978]	Chr3:25606034 [GRCh38] Chr3:25647525 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-9_396-5del	deletion	TOP2B-related disorder [RCV003951304]\|not provided [RCV002179299]	Chr3:25638315..25638319 [GRCh38] Chr3:25679806..25679810 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.4489+12T>C	single nucleotide variant	not provided [RCV002181130]	Chr3:25604748 [GRCh38] Chr3:25646239 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-24_396-5dup	duplication	not provided [RCV002137852]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4752C>T (p.Asp1584=)	single nucleotide variant	not provided [RCV002198361]	Chr3:25598436 [GRCh38] Chr3:25639927 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3363G>A (p.Glu1121=)	single nucleotide variant	not provided [RCV002204009]	Chr3:25615575 [GRCh38] Chr3:25657066 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1926T>C (p.Ala642=)	single nucleotide variant	not provided [RCV002217450]	Chr3:25627277 [GRCh38] Chr3:25668768 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4317A>G (p.Lys1439=)	single nucleotide variant	not provided [RCV002181698]	Chr3:25606104 [GRCh38] Chr3:25647595 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2225-17A>G	single nucleotide variant	not provided [RCV002181838]	Chr3:25624820 [GRCh38] Chr3:25666311 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-29_396-5del	deletion	not provided [RCV002184323]	Chr3:25638315..25638339 [GRCh38] Chr3:25679806..25679830 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.2727+14A>G	single nucleotide variant	not provided [RCV002155266]	Chr3:25623501 [GRCh38] Chr3:25664992 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2889T>C (p.Pro963=)	single nucleotide variant	not provided [RCV002200973]	Chr3:25620036 [GRCh38] Chr3:25661527 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-10_396-5del	deletion	not provided [RCV002202828]	Chr3:25638315..25638320 [GRCh38] Chr3:25679806..25679811 [GRCh37] Chr3:3p24.2	benign\|likely benign
NM_001330700.2(TOP2B):c.396-13T>A	single nucleotide variant	not provided [RCV002161237]	Chr3:25638323 [GRCh38] Chr3:25679814 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4094-15T>G	single nucleotide variant	not provided [RCV002176836]	Chr3:25607390 [GRCh38] Chr3:25648881 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1285G>A (p.Val429Ile)	single nucleotide variant	not provided [RCV002101453]\|not specified [RCV004045851]	Chr3:25630921 [GRCh38] Chr3:25672412 [GRCh37] Chr3:3p24.2	benign\|uncertain significance
NM_001330700.2(TOP2B):c.4093+17A>G	single nucleotide variant	not provided [RCV002119322]	Chr3:25609166 [GRCh38] Chr3:25650657 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1282A>G (p.Ile428Val)	single nucleotide variant	not provided [RCV003110495]	Chr3:25630924 [GRCh38] Chr3:25672415 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2305G>T (p.Ala769Ser)	single nucleotide variant	not provided [RCV003109982]	Chr3:25624723 [GRCh38] Chr3:25666214 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3099T>C (p.Tyr1033=)	single nucleotide variant	not provided [RCV003117021]	Chr3:25618814 [GRCh38] Chr3:25660305 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4572G>A (p.Ser1524=)	single nucleotide variant	not provided [RCV003118320]	Chr3:25601143 [GRCh38] Chr3:25642634 [GRCh37] Chr3:3p24.2	likely benign
NC_000003.11:g.(?_25642571)_(25642736_?)del	deletion	not provided [RCV003122424]	Chr3:25642571..25642736 [GRCh37] Chr3:3p24.2	uncertain significance
NC_000003.11:g.(?_25611229)_(25662327_?)dup	duplication	not provided [RCV003122425]	Chr3:25611229..25662327 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1303del (p.Trp435fs)	deletion	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV004790131]	Chr3:25630903 [GRCh38] Chr3:25672394 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4852G>C (p.Asp1618His)	single nucleotide variant	not provided [RCV003152658]	Chr3:25598336 [GRCh38] Chr3:25639827 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1543C>T (p.Arg515Trp)	single nucleotide variant	not specified [RCV002271854]	Chr3:25630332 [GRCh38] Chr3:25671823 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3541_3543del (p.Pro1181del)	deletion	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV003148481]	Chr3:25615253..25615255 [GRCh38] Chr3:25656744..25656746 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2630T>C (p.Ile877Thr)	single nucleotide variant	not provided [RCV002255051]	Chr3:25623612 [GRCh38] Chr3:25665103 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4870A>G (p.Met1624Val)	single nucleotide variant	TOP2B-related neurodevelopmental disorder [RCV002275577]\|not provided [RCV003101570]	Chr3:25598318 [GRCh38] Chr3:25639809 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1024A>T (p.Lys342Ter)	single nucleotide variant	not provided [RCV002265119]	Chr3:25633843 [GRCh38] Chr3:25675334 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3756T>G (p.Asp1252Glu)	single nucleotide variant	not provided [RCV002296892]	Chr3:25612545 [GRCh38] Chr3:25654036 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1658G>A (p.Arg553His)	single nucleotide variant	not provided [RCV003236125]	Chr3:25630060 [GRCh38] Chr3:25671551 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1076T>A (p.Ile359Asn)	single nucleotide variant	not provided [RCV003230225]	Chr3:25632745 [GRCh38] Chr3:25674236 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2863G>T (p.Val955Leu)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV002294744]	Chr3:25620062 [GRCh38] Chr3:25661553 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.957T>A (p.Asp319Glu)	single nucleotide variant	not provided [RCV002297493]	Chr3:25633910 [GRCh38] Chr3:25675401 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4298A>T (p.Glu1433Val)	single nucleotide variant	not provided [RCV002304814]	Chr3:25607171 [GRCh38] Chr3:25648662 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1232C>A (p.Ser411Tyr)	single nucleotide variant	not provided [RCV002301721]	Chr3:25632480 [GRCh38] Chr3:25673971 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1238G>T (p.Cys413Phe)	single nucleotide variant	not provided [RCV002298305]	Chr3:25632474 [GRCh38] Chr3:25673965 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3986T>C (p.Val1329Ala)	single nucleotide variant	not provided [RCV002302148]	Chr3:25609290 [GRCh38] Chr3:25650781 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3871T>A (p.Leu1291Met)	single nucleotide variant	not provided [RCV002298310]	Chr3:25609628 [GRCh38] Chr3:25651119 [GRCh37] Chr3:3p24.2	uncertain significance
NC_000003.12:g.25598393G>A	single nucleotide variant	not provided [RCV002300896]	Chr3:25598393 [GRCh38] Chr3:25639884 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1661A>C (p.Tyr554Ser)	single nucleotide variant	not provided [RCV002306168]	Chr3:25630057 [GRCh38] Chr3:25671548 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2755A>G (p.Thr919Ala)	single nucleotide variant	not provided [RCV002296630]	Chr3:25620789 [GRCh38] Chr3:25662280 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.364A>C (p.Asn122His)	single nucleotide variant	not provided [RCV002296600]	Chr3:25642353 [GRCh38] Chr3:25683844 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2463T>C (p.Ala821=)	single nucleotide variant	not provided [RCV003075150]	Chr3:25624329 [GRCh38] Chr3:25665820 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3131T>A (p.Phe1044Tyr)	single nucleotide variant	not provided [RCV003013593]	Chr3:25618782 [GRCh38] Chr3:25660273 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2169A>G (p.Glu723=)	single nucleotide variant	not provided [RCV002880548]	Chr3:25626615 [GRCh38] Chr3:25668106 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4078C>G (p.Leu1360Val)	single nucleotide variant	TOP2B-related disorder [RCV004753650]\|not provided [RCV003777859]\|not specified [RCV004142752]	Chr3:25609198 [GRCh38] Chr3:25650689 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.853-5A>G	single nucleotide variant	not provided [RCV002858186]	Chr3:25634019 [GRCh38] Chr3:25675510 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-9_396-5dup	duplication	not provided [RCV002971571]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2109+20G>A	single nucleotide variant	not provided [RCV002685782]	Chr3:25626752 [GRCh38] Chr3:25668243 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3133G>A (p.Asp1045Asn)	single nucleotide variant	not provided [RCV003013592]	Chr3:25618780 [GRCh38] Chr3:25660271 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1938G>A (p.Lys646=)	single nucleotide variant	not provided [RCV002685934]	Chr3:25627265 [GRCh38] Chr3:25668756 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3591+16A>G	single nucleotide variant	not provided [RCV002613957]	Chr3:25615189 [GRCh38] Chr3:25656680 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2901A>T (p.Gly967=)	single nucleotide variant	not provided [RCV002881228]	Chr3:25620024 [GRCh38] Chr3:25661515 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4046C>G (p.Thr1349Arg)	single nucleotide variant	not provided [RCV003011788]	Chr3:25609230 [GRCh38] Chr3:25650721 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1113A>G (p.Ser371=)	single nucleotide variant	not provided [RCV002685971]	Chr3:25632708 [GRCh38] Chr3:25674199 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3786+20A>T	single nucleotide variant	not provided [RCV003016965]	Chr3:25612495 [GRCh38] Chr3:25653986 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.159A>G (p.Arg53=)	single nucleotide variant	not provided [RCV003034580]	Chr3:25645381 [GRCh38] Chr3:25686872 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3260-4A>G	single nucleotide variant	not provided [RCV002996758]	Chr3:25618513 [GRCh38] Chr3:25660004 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2998C>G (p.Gln1000Glu)	single nucleotide variant	not provided [RCV002794906]\|not specified [RCV004067983]	Chr3:25619927 [GRCh38] Chr3:25661418 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3824A>G (p.Asp1275Gly)	single nucleotide variant	not provided [RCV003075866]	Chr3:25609675 [GRCh38] Chr3:25651166 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2907T>A (p.Asp969Glu)	single nucleotide variant	not provided [RCV002734768]	Chr3:25620018 [GRCh38] Chr3:25661509 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3787-9A>G	single nucleotide variant	not provided [RCV002756403]	Chr3:25609721 [GRCh38] Chr3:25651212 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4145C>A (p.Ala1382Asp)	single nucleotide variant	not provided [RCV002780022]\|not specified [RCV004067919]	Chr3:25607324 [GRCh38] Chr3:25648815 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1695A>C (p.Gln565His)	single nucleotide variant	not provided [RCV002816585]	Chr3:25629140 [GRCh38] Chr3:25670631 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-10_396-5dup	duplication	not provided [RCV002995301]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4710+6C>A	single nucleotide variant	not provided [RCV002751521]	Chr3:25599429 [GRCh38] Chr3:25640920 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4489+5G>A	single nucleotide variant	not provided [RCV003014886]	Chr3:25604755 [GRCh38] Chr3:25646246 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4647A>G (p.Ala1549=)	single nucleotide variant	not provided [RCV003016064]	Chr3:25599498 [GRCh38] Chr3:25640989 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4710+4dup	duplication	not provided [RCV002816441]	Chr3:25599430..25599431 [GRCh38] Chr3:25640921..25640922 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2728-19T>C	single nucleotide variant	not provided [RCV002858720]	Chr3:25620835 [GRCh38] Chr3:25662326 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3919AAG[1] (p.Lys1308del)	microsatellite	not provided [RCV002994874]	Chr3:25609575..25609577 [GRCh38] Chr3:25651066..25651068 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.254A>G (p.Tyr85Cys)	single nucleotide variant	not provided [RCV003099044]	Chr3:25643771 [GRCh38] Chr3:25685262 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2703A>G (p.Leu901=)	single nucleotide variant	not provided [RCV002863797]	Chr3:25623539 [GRCh38] Chr3:25665030 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4572_4577dup (p.Ser1526_Glu1527insAspSer)	duplication	not provided [RCV002996495]	Chr3:25601137..25601138 [GRCh38] Chr3:25642628..25642629 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2862+12dup	duplication	not provided [RCV002880972]	Chr3:25620669..25620670 [GRCh38] Chr3:25662160..25662161 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.526G>C (p.Glu176Gln)	single nucleotide variant	not provided [RCV003033656]	Chr3:25638180 [GRCh38] Chr3:25679671 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4677C>T (p.Asn1559=)	single nucleotide variant	not provided [RCV003016213]	Chr3:25599468 [GRCh38] Chr3:25640959 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1076_1079del (p.Ile359fs)	deletion	not provided [RCV002686066]	Chr3:25632742..25632745 [GRCh38] Chr3:25674233..25674236 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4478C>T (p.Ala1493Val)	single nucleotide variant	not provided [RCV002825229]	Chr3:25604771 [GRCh38] Chr3:25646262 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-31_396-5del	deletion	not provided [RCV002663130]	Chr3:25638315..25638341 [GRCh38] Chr3:25679806..25679832 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4426T>C (p.Ser1476Pro)	single nucleotide variant	not provided [RCV003038584]	Chr3:25604823 [GRCh38] Chr3:25646314 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.640-3A>T	single nucleotide variant	not provided [RCV002593266]	Chr3:25636151 [GRCh38] Chr3:25677642 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.639+12A>G	single nucleotide variant	not provided [RCV003021152]	Chr3:25637203 [GRCh38] Chr3:25678694 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.538A>G (p.Thr180Ala)	single nucleotide variant	not provided [RCV002639706]\|not specified [RCV004681527]	Chr3:25638168 [GRCh38] Chr3:25679659 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3593A>G (p.Lys1198Arg)	single nucleotide variant	not provided [RCV002706702]	Chr3:25612708 [GRCh38] Chr3:25654199 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-8_396-5dup	duplication	not provided [RCV002999126]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4711-21_4711-17dup	duplication	not provided [RCV002570981]	Chr3:25598493..25598494 [GRCh38] Chr3:25639984..25639985 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.228G>A (p.Glu76=)	single nucleotide variant	not provided [RCV003055686]	Chr3:25645312 [GRCh38] Chr3:25686803 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.426T>C (p.Asn142=)	single nucleotide variant	not provided [RCV002620405]	Chr3:25638280 [GRCh38] Chr3:25679771 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3426T>C (p.Asp1142=)	single nucleotide variant	not provided [RCV002735972]	Chr3:25615512 [GRCh38] Chr3:25657003 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2727+15C>T	single nucleotide variant	not provided [RCV002591206]	Chr3:25623500 [GRCh38] Chr3:25664991 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.102A>T (p.Lys34Asn)	single nucleotide variant	not provided [RCV002760253]\|not specified [RCV004067776]	Chr3:25645438 [GRCh38] Chr3:25686929 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.12G>A (p.Ser4=)	single nucleotide variant	not provided [RCV002847457]	Chr3:25664286 [GRCh38] Chr3:25705777 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2511A>G (p.Leu837=)	single nucleotide variant	not provided [RCV002619526]	Chr3:25623731 [GRCh38] Chr3:25665222 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.542-15T>C	single nucleotide variant	not provided [RCV003037532]	Chr3:25637327 [GRCh38] Chr3:25678818 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1266+10A>G	single nucleotide variant	not provided [RCV002948336]	Chr3:25632436 [GRCh38] Chr3:25673927 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4792C>T (p.Pro1598Ser)	single nucleotide variant	not specified [RCV004110130]	Chr3:25598396 [GRCh38] Chr3:25639887 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3496A>C (p.Arg1166=)	single nucleotide variant	not provided [RCV003036100]	Chr3:25615442 [GRCh38] Chr3:25656933 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.717A>G (p.Thr239=)	single nucleotide variant	not provided [RCV002843927]	Chr3:25636071 [GRCh38] Chr3:25677562 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3846A>G (p.Pro1282=)	single nucleotide variant	not provided [RCV002867763]	Chr3:25609653 [GRCh38] Chr3:25651144 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4616-16T>A	single nucleotide variant	not provided [RCV002590688]	Chr3:25599545 [GRCh38] Chr3:25641036 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4239A>G (p.Ser1413=)	single nucleotide variant	not provided [RCV002824100]	Chr3:25607230 [GRCh38] Chr3:25648721 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1020T>G (p.Thr340=)	single nucleotide variant	not provided [RCV002592249]	Chr3:25633847 [GRCh38] Chr3:25675338 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.27G>A (p.Ala9=)	single nucleotide variant	not provided [RCV003080576]	Chr3:25664271 [GRCh38] Chr3:25705762 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2710C>T (p.Leu904=)	single nucleotide variant	not provided [RCV003055076]	Chr3:25623532 [GRCh38] Chr3:25665023 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1026+7A>G	single nucleotide variant	not provided [RCV002590991]	Chr3:25633834 [GRCh38] Chr3:25675325 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2728-4A>G	single nucleotide variant	not provided [RCV002592908]	Chr3:25620820 [GRCh38] Chr3:25662311 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.207T>C (p.Asp69=)	single nucleotide variant	not provided [RCV002636601]	Chr3:25645333 [GRCh38] Chr3:25686824 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.895A>G (p.Lys299Glu)	single nucleotide variant	not specified [RCV004171841]	Chr3:25633972 [GRCh38] Chr3:25675463 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2851A>G (p.Thr951Ala)	single nucleotide variant	not provided [RCV002639604]	Chr3:25620693 [GRCh38] Chr3:25662184 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4840G>T (p.Asp1614Tyr)	single nucleotide variant	not provided [RCV002662346]	Chr3:25598348 [GRCh38] Chr3:25639839 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.441A>T (p.Pro147=)	single nucleotide variant	not provided [RCV002846150]	Chr3:25638265 [GRCh38] Chr3:25679756 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-3C>T	single nucleotide variant	not provided [RCV002638815]	Chr3:25638313 [GRCh38] Chr3:25679804 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2422A>G (p.Ile808Val)	single nucleotide variant	not provided [RCV002761360]\|not specified [RCV004067949]	Chr3:25624370 [GRCh38] Chr3:25665861 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3873G>A (p.Leu1291=)	single nucleotide variant	not provided [RCV002695013]	Chr3:25609626 [GRCh38] Chr3:25651117 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3373C>G (p.Gln1125Glu)	single nucleotide variant	not provided [RCV002662702]	Chr3:25615565 [GRCh38] Chr3:25657056 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3005A>G (p.Glu1002Gly)	single nucleotide variant	not provided [RCV003038878]	Chr3:25619920 [GRCh38] Chr3:25661411 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2699T>C (p.Met900Thr)	single nucleotide variant	not provided [RCV003021102]	Chr3:25623543 [GRCh38] Chr3:25665034 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.240+11C>G	single nucleotide variant	not provided [RCV002790205]	Chr3:25645289 [GRCh38] Chr3:25686780 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1398T>C (p.Asn466=)	single nucleotide variant	not provided [RCV002790607]	Chr3:25630808 [GRCh38] Chr3:25672299 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1266+16A>T	single nucleotide variant	not provided [RCV002745783]	Chr3:25632430 [GRCh38] Chr3:25673921 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3673G>A (p.Val1225Met)	single nucleotide variant	not provided [RCV002626519]	Chr3:25612628 [GRCh38] Chr3:25654119 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3475G>A (p.Val1159Ile)	single nucleotide variant	not specified [RCV004117649]	Chr3:25615463 [GRCh38] Chr3:25656954 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1851C>T (p.Asp617=)	single nucleotide variant	not provided [RCV002805615]	Chr3:25628902 [GRCh38] Chr3:25670393 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4599G>C (p.Lys1533Asn)	single nucleotide variant	not provided [RCV003042286]	Chr3:25601116 [GRCh38] Chr3:25642607 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4128A>G (p.Glu1376=)	single nucleotide variant	not provided [RCV003043313]	Chr3:25607341 [GRCh38] Chr3:25648832 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4710+19G>A	single nucleotide variant	not provided [RCV002645655]	Chr3:25599416 [GRCh38] Chr3:25640907 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4378+16C>G	single nucleotide variant	not provided [RCV002575089]	Chr3:25606027 [GRCh38] Chr3:25647518 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.943A>G (p.Asn315Asp)	single nucleotide variant	not provided [RCV002596651]	Chr3:25633924 [GRCh38] Chr3:25675415 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.69+11G>T	single nucleotide variant	not provided [RCV002828149]	Chr3:25664218 [GRCh38] Chr3:25705709 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3474A>T (p.Lys1158Asn)	single nucleotide variant	not specified [RCV004072254]	Chr3:25615464 [GRCh38] Chr3:25656955 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4152T>A (p.Asp1384Glu)	single nucleotide variant	not provided [RCV002623690]	Chr3:25607317 [GRCh38] Chr3:25648808 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4533A>C (p.Pro1511=)	single nucleotide variant	not provided [RCV002666686]	Chr3:25601182 [GRCh38] Chr3:25642673 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4718AGA[3] (p.Lys1574_Thr1575insLys)	microsatellite	not provided [RCV002851303]	Chr3:25598464..25598465 [GRCh38] Chr3:25639955..25639956 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.640-7T>C	single nucleotide variant	not provided [RCV002802204]	Chr3:25636155 [GRCh38] Chr3:25677646 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2329G>T (p.Ala777Ser)	single nucleotide variant	not provided [RCV003778626]\|not specified [RCV004238898]	Chr3:25624699 [GRCh38] Chr3:25666190 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1267-13C>A	single nucleotide variant	not provided [RCV003057358]	Chr3:25630952 [GRCh38] Chr3:25672443 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4520C>T (p.Pro1507Leu)	single nucleotide variant	not provided [RCV002741864]	Chr3:25601195 [GRCh38] Chr3:25642686 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4125A>G (p.Ser1375=)	single nucleotide variant	not provided [RCV002890609]	Chr3:25607344 [GRCh38] Chr3:25648835 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2197G>T (p.Glu733Ter)	single nucleotide variant	not provided [RCV002876534]	Chr3:25626587 [GRCh38] Chr3:25668078 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2862+19T>A	single nucleotide variant	not provided [RCV002852784]	Chr3:25620663 [GRCh38] Chr3:25662154 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3592-4T>G	single nucleotide variant	not provided [RCV002800820]	Chr3:25612713 [GRCh38] Chr3:25654204 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.504A>C (p.Thr168=)	single nucleotide variant	not provided [RCV003006180]	Chr3:25638202 [GRCh38] Chr3:25679693 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-7_396-5dup	duplication	not provided [RCV002954110]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2466A>T (p.Ala822=)	single nucleotide variant	not provided [RCV002801106]	Chr3:25624326 [GRCh38] Chr3:25665817 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2509C>G (p.Leu837Val)	single nucleotide variant	not specified [RCV004137526]	Chr3:25623733 [GRCh38] Chr3:25665224 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2593A>G (p.Ile865Val)	single nucleotide variant	not provided [RCV003083656]	Chr3:25623649 [GRCh38] Chr3:25665140 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3591+10G>C	single nucleotide variant	not provided [RCV002575551]	Chr3:25615195 [GRCh38] Chr3:25656686 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2017-4T>C	single nucleotide variant	not provided [RCV003085226]	Chr3:25626868 [GRCh38] Chr3:25668359 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3736A>G (p.Ile1246Val)	single nucleotide variant	not provided [RCV003057883]	Chr3:25612565 [GRCh38] Chr3:25654056 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3800C>G (p.Thr1267Ser)	single nucleotide variant	not provided [RCV003024242]	Chr3:25609699 [GRCh38] Chr3:25651190 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3573A>G (p.Ala1191=)	single nucleotide variant	not provided [RCV002894271]	Chr3:25615223 [GRCh38] Chr3:25656714 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1351G>T (p.Val451Leu)	single nucleotide variant	not provided [RCV002700303]	Chr3:25630855 [GRCh38] Chr3:25672346 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.541+10G>A	single nucleotide variant	not provided [RCV002894303]	Chr3:25638155 [GRCh38] Chr3:25679646 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4800C>A (p.Thr1600=)	single nucleotide variant	not provided [RCV002711330]	Chr3:25598388 [GRCh38] Chr3:25639879 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.897A>G (p.Lys299=)	single nucleotide variant	not provided [RCV002643172]	Chr3:25633970 [GRCh38] Chr3:25675461 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.680T>G (p.Ile227Ser)	single nucleotide variant	not provided [RCV003023165]	Chr3:25636108 [GRCh38] Chr3:25677599 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1611A>G (p.Leu537=)	single nucleotide variant	not provided [RCV002852673]	Chr3:25630107 [GRCh38] Chr3:25671598 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4615+19T>A	single nucleotide variant	not provided [RCV003041138]	Chr3:25601081 [GRCh38] Chr3:25642572 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.33C>T (p.Ala11=)	single nucleotide variant	not provided [RCV002741558]	Chr3:25664265 [GRCh38] Chr3:25705756 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4758C>T (p.Phe1586=)	single nucleotide variant	not provided [RCV002801634]	Chr3:25598430 [GRCh38] Chr3:25639921 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.542-18A>T	single nucleotide variant	not provided [RCV002631538]	Chr3:25637330 [GRCh38] Chr3:25678821 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3786+7C>G	single nucleotide variant	not provided [RCV002602227]	Chr3:25612508 [GRCh38] Chr3:25653999 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2347-12_2347-10del	microsatellite	not provided [RCV003086394]	Chr3:25624455..25624457 [GRCh38] Chr3:25665946..25665948 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1588A>C (p.Asn530His)	single nucleotide variant	not provided [RCV003048521]	Chr3:25630130 [GRCh38] Chr3:25671621 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1406-18A>C	single nucleotide variant	not provided [RCV002581300]	Chr3:25630487 [GRCh38] Chr3:25671978 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2534A>G (p.Asn845Ser)	single nucleotide variant	not provided [RCV002577953]	Chr3:25623708 [GRCh38] Chr3:25665199 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4451_4454del (p.Thr1484fs)	microsatellite	not provided [RCV003048693]	Chr3:25604795..25604798 [GRCh38] Chr3:25646286..25646289 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4407A>T (p.Glu1469Asp)	single nucleotide variant	not specified [RCV004155003]	Chr3:25604842 [GRCh38] Chr3:25646333 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3248A>G (p.Lys1083Arg)	single nucleotide variant	not specified [RCV004151954]	Chr3:25618665 [GRCh38] Chr3:25660156 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3922A>G (p.Lys1308Glu)	single nucleotide variant	not provided [RCV002649677]\|not specified [RCV004066612]	Chr3:25609577 [GRCh38] Chr3:25651068 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1129-6C>T	single nucleotide variant	not provided [RCV002579735]	Chr3:25632589 [GRCh38] Chr3:25674080 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1907-4G>T	single nucleotide variant	not provided [RCV002577086]	Chr3:25627300 [GRCh38] Chr3:25668791 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-17T>A	single nucleotide variant	not provided [RCV002630586]	Chr3:25638327 [GRCh38] Chr3:25679818 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2525T>C (p.Val842Ala)	single nucleotide variant	not provided [RCV003088702]	Chr3:25623717 [GRCh38] Chr3:25665208 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4740T>A (p.Asp1580Glu)	single nucleotide variant	not provided [RCV002715856]	Chr3:25598448 [GRCh38] Chr3:25639939 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.354G>A (p.Gln118=)	single nucleotide variant	not provided [RCV002746633]	Chr3:25642363 [GRCh38] Chr3:25683854 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1013T>C (p.Ile338Thr)	single nucleotide variant	not provided [RCV003046074]	Chr3:25633854 [GRCh38] Chr3:25675345 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3530A>G (p.Lys1177Arg)	single nucleotide variant	not provided [RCV002650632]	Chr3:25615266 [GRCh38] Chr3:25656757 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1548A>G (p.Glu516=)	single nucleotide variant	not provided [RCV002857816]	Chr3:25630327 [GRCh38] Chr3:25671818 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.640-10del	deletion	not provided [RCV003026452]	Chr3:25636158 [GRCh38] Chr3:25677649 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4135G>A (p.Asp1379Asn)	single nucleotide variant	not provided [RCV002856265]	Chr3:25607334 [GRCh38] Chr3:25648825 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3931+17G>A	single nucleotide variant	not provided [RCV002650489]	Chr3:25609551 [GRCh38] Chr3:25651042 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3011C>T (p.Ala1004Val)	single nucleotide variant	not provided [RCV002720082]	Chr3:25619914 [GRCh38] Chr3:25661405 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2349A>G (p.Gln783=)	single nucleotide variant	not provided [RCV002770287]	Chr3:25624443 [GRCh38] Chr3:25665934 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1907-9A>T	single nucleotide variant	not provided [RCV003009748]	Chr3:25627305 [GRCh38] Chr3:25668796 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1470T>A (p.Ala490=)	single nucleotide variant	not provided [RCV002631884]	Chr3:25630405 [GRCh38] Chr3:25671896 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2319T>G (p.Ala773=)	single nucleotide variant	not provided [RCV002806777]	Chr3:25624709 [GRCh38] Chr3:25666200 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3950C>T (p.Thr1317Ile)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV003138302]\|not provided [RCV002598492]	Chr3:25609326 [GRCh38] Chr3:25650817 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1564-18C>T	single nucleotide variant	not provided [RCV002811419]	Chr3:25630172 [GRCh38] Chr3:25671663 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1743T>C (p.Asn581=)	single nucleotide variant	not provided [RCV002676079]	Chr3:25629092 [GRCh38] Chr3:25670583 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.852+14A>G	single nucleotide variant	not provided [RCV003045835]	Chr3:25635922 [GRCh38] Chr3:25677413 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3508-3T>C	single nucleotide variant	not provided [RCV002578920]	Chr3:25615291 [GRCh38] Chr3:25656782 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2225-18_2225-5del	deletion	not provided [RCV003048891]	Chr3:25624808..25624821 [GRCh38] Chr3:25666299..25666312 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1690-12A>T	single nucleotide variant	not provided [RCV002647000]	Chr3:25629157 [GRCh38] Chr3:25670648 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3971C>G (p.Pro1324Arg)	single nucleotide variant	not specified [RCV004115872]	Chr3:25609305 [GRCh38] Chr3:25650796 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.127A>G (p.Asn43Asp)	single nucleotide variant	not provided [RCV002584794]	Chr3:25645413 [GRCh38] Chr3:25686904 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1129-11G>A	single nucleotide variant	not provided [RCV002653575]	Chr3:25632594 [GRCh38] Chr3:25674085 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4796G>A (p.Arg1599Gln)	single nucleotide variant	not provided [RCV002604866]\|not specified [RCV004065850]	Chr3:25598392 [GRCh38] Chr3:25639883 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.783T>C (p.Thr261=)	single nucleotide variant	not provided [RCV002657809]	Chr3:25636005 [GRCh38] Chr3:25677496 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2495+20A>G	single nucleotide variant	not provided [RCV002634401]	Chr3:25624277 [GRCh38] Chr3:25665768 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4378+15T>G	single nucleotide variant	not provided [RCV002676713]	Chr3:25606028 [GRCh38] Chr3:25647519 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3951A>C (p.Thr1317=)	single nucleotide variant	not provided [RCV003050184]	Chr3:25609325 [GRCh38] Chr3:25650816 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3606A>G (p.Gln1202=)	single nucleotide variant	not provided [RCV002943453]	Chr3:25612695 [GRCh38] Chr3:25654186 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2830A>G (p.Ile944Val)	single nucleotide variant	not provided [RCV003051586]	Chr3:25620714 [GRCh38] Chr3:25662205 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.865C>T (p.Arg289Cys)	single nucleotide variant	not provided [RCV002584109]	Chr3:25634002 [GRCh38] Chr3:25675493 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4299-10T>C	single nucleotide variant	not provided [RCV002609600]	Chr3:25606132 [GRCh38] Chr3:25647623 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4153G>T (p.Asp1385Tyr)	single nucleotide variant	not provided [RCV002586796]	Chr3:25607316 [GRCh38] Chr3:25648807 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2282G>A (p.Arg761His)	single nucleotide variant	not provided [RCV002586900]\|not specified [RCV004064509]	Chr3:25624746 [GRCh38] Chr3:25666237 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2365A>C (p.Ile789Leu)	single nucleotide variant	not provided [RCV002609859]\|not specified [RCV004065885]	Chr3:25624427 [GRCh38] Chr3:25665918 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.241-17del	deletion	not provided [RCV002589589]	Chr3:25643801 [GRCh38] Chr3:25685292 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2328G>A (p.Ser776=)	single nucleotide variant	not provided [RCV002606165]	Chr3:25624700 [GRCh38] Chr3:25666191 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4534A>G (p.Lys1512Glu)	single nucleotide variant	not provided [RCV002590252]	Chr3:25601181 [GRCh38] Chr3:25642672 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.541+7T>A	single nucleotide variant	not provided [RCV002606223]	Chr3:25638158 [GRCh38] Chr3:25679649 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4732_4773dup (p.Pro1591_Thr1592insAspGlnAspSerAspValAspIlePheProSerAspPhePro)	duplication	not provided [RCV002613022]	Chr3:25598414..25598415 [GRCh38] Chr3:25639905..25639906 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1269C>T (p.Ala423=)	single nucleotide variant	not provided [RCV003071432]	Chr3:25630937 [GRCh38] Chr3:25672428 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3746T>C (p.Met1249Thr)	single nucleotide variant	not provided [RCV004778417]	Chr3:25612555 [GRCh38] Chr3:25654046 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-6_396-5del	deletion	not provided [RCV003223133]	Chr3:25638315..25638316 [GRCh38] Chr3:25679806..25679807 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4819G>T (p.Val1607Leu)	single nucleotide variant	not specified [RCV004267354]	Chr3:25598369 [GRCh38] Chr3:25639860 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4313A>C (p.Asp1438Ala)	single nucleotide variant	not specified [RCV004278178]	Chr3:25606108 [GRCh38] Chr3:25647599 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1669A>T (p.Ile557Phe)	single nucleotide variant	not provided [RCV003228337]	Chr3:25630049 [GRCh38] Chr3:25671540 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2327C>T (p.Ser776Leu)	single nucleotide variant	not provided [RCV003327112]	Chr3:25624701 [GRCh38] Chr3:25666192 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3907C>G (p.Pro1303Ala)	single nucleotide variant	not provided [RCV003708771]\|not specified [RCV003331834]	Chr3:25609592 [GRCh38] Chr3:25651083 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2519C>A (p.Pro840His)	single nucleotide variant	not specified [RCV004356357]	Chr3:25623723 [GRCh38] Chr3:25665214 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p24.2(chr3:25453857-26021261)x1	copy number loss	not provided [RCV003485382]	Chr3:25453857..26021261 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1266+8_1266+10del	deletion	not provided [RCV003825860]	Chr3:25632436..25632438 [GRCh38] Chr3:25673927..25673929 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1763A>G (p.His588Arg)	single nucleotide variant	not provided [RCV003569595]	Chr3:25629072 [GRCh38] Chr3:25670563 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1563+9GT[5]	microsatellite	not provided [RCV003543707]	Chr3:25630295..25630296 [GRCh38] Chr3:25671786..25671787 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2728-15C>A	single nucleotide variant	not provided [RCV003543264]	Chr3:25620831 [GRCh38] Chr3:25662322 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4800C>T (p.Thr1600=)	single nucleotide variant	not provided [RCV003570903]	Chr3:25598388 [GRCh38] Chr3:25639879 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-5_396-4insTTTTTTTTTTA	insertion	not provided [RCV003570727]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1937A>G (p.Lys646Arg)	single nucleotide variant	not provided [RCV003875432]	Chr3:25627266 [GRCh38] Chr3:25668757 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2104C>A (p.Pro702Thr)	single nucleotide variant	not provided [RCV003570148]	Chr3:25626777 [GRCh38] Chr3:25668268 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4227A>G (p.Glu1409=)	single nucleotide variant	not provided [RCV003570305]	Chr3:25607242 [GRCh38] Chr3:25648733 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2506A>C (p.Arg836=)	single nucleotide variant	not provided [RCV003570495]	Chr3:25623736 [GRCh38] Chr3:25665227 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.175A>T (p.Thr59Ser)	single nucleotide variant	not provided [RCV003571906]	Chr3:25645365 [GRCh38] Chr3:25686856 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.635A>T (p.Lys212Met)	single nucleotide variant	not provided [RCV003571705]	Chr3:25637219 [GRCh38] Chr3:25678710 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	copy number gain	not provided [RCV003484107]	Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1	pathogenic
NM_001330700.2(TOP2B):c.2076C>T (p.Asp692=)	single nucleotide variant	not provided [RCV003437734]	Chr3:25626805 [GRCh38] Chr3:25668296 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1418C>T (p.Ser473Phe)	single nucleotide variant	not provided [RCV004776779]	Chr3:25630457 [GRCh38] Chr3:25671948 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1098C>A (p.Asn366Lys)	single nucleotide variant	not provided [RCV003443557]	Chr3:25632723 [GRCh38] Chr3:25674214 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2512C>G (p.Leu838Val)	single nucleotide variant	TOP2B-related disorder [RCV003397819]	Chr3:25623730 [GRCh38] Chr3:25665221 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4510G>T (p.Val1504Phe)	single nucleotide variant	TOP2B-related disorder [RCV003391312]\|not provided [RCV003738451]	Chr3:25601205 [GRCh38] Chr3:25642696 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1289A>G (p.Glu430Gly)	single nucleotide variant	Neurodevelopmental disorder [RCV003389163]	Chr3:25630917 [GRCh38] Chr3:25672408 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4496C>G (p.Pro1499Arg)	single nucleotide variant	TOP2B-related disorder [RCV003408454]	Chr3:25601219 [GRCh38] Chr3:25642710 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-8_396-5del	deletion	not provided [RCV003437735]	Chr3:25638315..25638318 [GRCh38] Chr3:25679806..25679809 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3251T>A (p.Ile1084Asn)	single nucleotide variant	not provided [RCV003437733]	Chr3:25618662 [GRCh38] Chr3:25660153 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.7A>G (p.Lys3Glu)	single nucleotide variant	not provided [RCV003579488]	Chr3:25664291 [GRCh38] Chr3:25705782 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4073C>G (p.Ser1358Cys)	single nucleotide variant	not provided [RCV003714638]	Chr3:25609203 [GRCh38] Chr3:25650694 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3668C>T (p.Pro1223Leu)	single nucleotide variant	not provided [RCV003575363]	Chr3:25612633 [GRCh38] Chr3:25654124 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1134A>G (p.Lys378=)	single nucleotide variant	not provided [RCV003575399]	Chr3:25632578 [GRCh38] Chr3:25674069 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.122A>G (p.Asn41Ser)	single nucleotide variant	not provided [RCV003826921]	Chr3:25645418 [GRCh38] Chr3:25686909 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-20_396-5dup	duplication	not provided [RCV003739970]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4093+13del	deletion	not provided [RCV003824421]	Chr3:25609170 [GRCh38] Chr3:25650661 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1027-15T>C	single nucleotide variant	not provided [RCV003693323]	Chr3:25632809 [GRCh38] Chr3:25674300 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4010A>T (p.Asp1337Val)	single nucleotide variant	not provided [RCV003687320]	Chr3:25609266 [GRCh38] Chr3:25650757 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4378+14G>A	single nucleotide variant	not provided [RCV003713614]	Chr3:25606029 [GRCh38] Chr3:25647520 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4060A>G (p.Ile1354Val)	single nucleotide variant	not provided [RCV003577527]	Chr3:25609216 [GRCh38] Chr3:25650707 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1038C>T (p.His346=)	single nucleotide variant	not provided [RCV003577742]	Chr3:25632783 [GRCh38] Chr3:25674274 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4711-9A>T	single nucleotide variant	not provided [RCV003694754]	Chr3:25598486 [GRCh38] Chr3:25639977 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4802G>T (p.Gly1601Val)	single nucleotide variant	not provided [RCV003576549]	Chr3:25598386 [GRCh38] Chr3:25639877 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4710+14T>A	single nucleotide variant	not provided [RCV003696243]	Chr3:25599421 [GRCh38] Chr3:25640912 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4298+9T>C	single nucleotide variant	not provided [RCV003848882]	Chr3:25607162 [GRCh38] Chr3:25648653 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4514C>T (p.Pro1505Leu)	single nucleotide variant	not provided [RCV003576956]	Chr3:25601201 [GRCh38] Chr3:25642692 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1128+17A>G	single nucleotide variant	not provided [RCV003715082]	Chr3:25632676 [GRCh38] Chr3:25674167 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.371C>T (p.Thr124Ile)	single nucleotide variant	not provided [RCV003575177]	Chr3:25642346 [GRCh38] Chr3:25683837 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1800+6C>T	single nucleotide variant	TOP2B-related disorder [RCV003956631]\|not provided [RCV003882145]	Chr3:25629029 [GRCh38] Chr3:25670520 [GRCh37] Chr3:3p24.2	likely benign\|uncertain significance
NM_001330700.2(TOP2B):c.2496-10T>A	single nucleotide variant	not provided [RCV003691448]	Chr3:25623756 [GRCh38] Chr3:25665247 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1027-13T>C	single nucleotide variant	not provided [RCV003695198]	Chr3:25632807 [GRCh38] Chr3:25674298 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1635T>C (p.Asp545=)	single nucleotide variant	not provided [RCV003662891]	Chr3:25630083 [GRCh38] Chr3:25671574 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1563+25G>A	single nucleotide variant	not specified [RCV003489077]	Chr3:25630287 [GRCh38] Chr3:25671778 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4101A>G (p.Arg1367=)	single nucleotide variant	not provided [RCV003694004]	Chr3:25607368 [GRCh38] Chr3:25648859 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4838C>A (p.Ser1613Tyr)	single nucleotide variant	not provided [RCV003575611]	Chr3:25598350 [GRCh38] Chr3:25639841 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.941C>T (p.Ala314Val)	single nucleotide variant	not provided [RCV003693924]	Chr3:25633926 [GRCh38] Chr3:25675417 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3160C>T (p.Arg1054Cys)	single nucleotide variant	not provided [RCV003686999]	Chr3:25618753 [GRCh38] Chr3:25660244 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2442G>T (p.Arg814=)	single nucleotide variant	not provided [RCV003739687]	Chr3:25624350 [GRCh38] Chr3:25665841 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.111A>C (p.Ser37=)	single nucleotide variant	not provided [RCV003578958]	Chr3:25645429 [GRCh38] Chr3:25686920 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4826_4829dup (p.Phe1610fs)	duplication	not provided [RCV003578481]	Chr3:25598358..25598359 [GRCh38] Chr3:25639849..25639850 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-6_396-5dup	duplication	not provided [RCV003546373]	Chr3:25638314..25638315 [GRCh38] Chr3:25679805..25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.1968C>T (p.Arg656=)	single nucleotide variant	not provided [RCV003715257]	Chr3:25627235 [GRCh38] Chr3:25668726 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.698A>C (p.Glu233Ala)	single nucleotide variant	not provided [RCV003663332]	Chr3:25636090 [GRCh38] Chr3:25677581 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4606A>C (p.Thr1536Pro)	single nucleotide variant	not provided [RCV003693065]	Chr3:25601109 [GRCh38] Chr3:25642600 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-5del	deletion	not provided [RCV003545685]	Chr3:25638315 [GRCh38] Chr3:25679806 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.2852C>T (p.Thr951Ile)	single nucleotide variant	not provided [RCV003574512]	Chr3:25620692 [GRCh38] Chr3:25662183 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4869A>T (p.Ala1623=)	single nucleotide variant	not provided [RCV003547214]	Chr3:25598319 [GRCh38] Chr3:25639810 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.806G>A (p.Gly269Asp)	single nucleotide variant	not provided [RCV003688622]	Chr3:25635982 [GRCh38] Chr3:25677473 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2533A>C (p.Asn845His)	single nucleotide variant	not provided [RCV003663369]	Chr3:25623709 [GRCh38] Chr3:25665200 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3914G>C (p.Arg1305Thr)	single nucleotide variant	not provided [RCV003546098]	Chr3:25609585 [GRCh38] Chr3:25651076 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1191G>A (p.Gln397=)	single nucleotide variant	not provided [RCV003827229]	Chr3:25632521 [GRCh38] Chr3:25674012 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4279A>G (p.Lys1427Glu)	single nucleotide variant	not provided [RCV003660457]	Chr3:25607190 [GRCh38] Chr3:25648681 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4831G>C (p.Ala1611Pro)	single nucleotide variant	not provided [RCV003687620]	Chr3:25598357 [GRCh38] Chr3:25639848 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4490-12T>A	single nucleotide variant	not provided [RCV003692536]	Chr3:25601237 [GRCh38] Chr3:25642728 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.527A>G (p.Glu176Gly)	single nucleotide variant	not provided [RCV003716659]	Chr3:25638179 [GRCh38] Chr3:25679670 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3259+50dup	duplication	not specified [RCV003489062]	Chr3:25618603..25618604 [GRCh38] Chr3:25660094..25660095 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.1626T>G (p.Ser542Arg)	single nucleotide variant	not provided [RCV003693407]	Chr3:25630092 [GRCh38] Chr3:25671583 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.69+18G>A	single nucleotide variant	not provided [RCV003661373]	Chr3:25664211 [GRCh38] Chr3:25705702 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4616-1G>C	single nucleotide variant	not provided [RCV003663567]	Chr3:25599530 [GRCh38] Chr3:25641021 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1267-20C>G	single nucleotide variant	not provided [RCV003698637]	Chr3:25630959 [GRCh38] Chr3:25672450 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4749G>A (p.Val1583=)	single nucleotide variant	not provided [RCV003697812]	Chr3:25598439 [GRCh38] Chr3:25639930 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2825T>C (p.Val942Ala)	single nucleotide variant	not provided [RCV003852307]	Chr3:25620719 [GRCh38] Chr3:25662210 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4295C>T (p.Pro1432Leu)	single nucleotide variant	not provided [RCV003834978]	Chr3:25607174 [GRCh38] Chr3:25648665 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2355G>A (p.Leu785=)	single nucleotide variant	not provided [RCV003835146]	Chr3:25624437 [GRCh38] Chr3:25665928 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2417A>G (p.Gln806Arg)	single nucleotide variant	not provided [RCV003851602]	Chr3:25624375 [GRCh38] Chr3:25665866 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3785A>C (p.Lys1262Thr)	single nucleotide variant	not provided [RCV003579984]	Chr3:25612516 [GRCh38] Chr3:25654007 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4011T>C (p.Asp1337=)	single nucleotide variant	not provided [RCV003851841]	Chr3:25609265 [GRCh38] Chr3:25650756 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1075A>G (p.Ile359Val)	single nucleotide variant	not provided [RCV003833443]	Chr3:25632746 [GRCh38] Chr3:25674237 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3381G>T (p.Gln1127His)	single nucleotide variant	not provided [RCV003717662]	Chr3:25615557 [GRCh38] Chr3:25657048 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.474T>A (p.Val158=)	single nucleotide variant	not provided [RCV003832761]	Chr3:25638232 [GRCh38] Chr3:25679723 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4739A>C (p.Asp1580Ala)	single nucleotide variant	not provided [RCV003852363]	Chr3:25598449 [GRCh38] Chr3:25639940 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.918C>A (p.Ala306=)	single nucleotide variant	not provided [RCV003840308]	Chr3:25633949 [GRCh38] Chr3:25675440 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2813A>G (p.Asp938Gly)	single nucleotide variant	not provided [RCV003810770]	Chr3:25620731 [GRCh38] Chr3:25662222 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3591+15T>C	single nucleotide variant	not provided [RCV003700240]	Chr3:25615190 [GRCh38] Chr3:25656681 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4865_*15inv (p.Phe1622_Ter1627delinsCysAlaLeuTrpAlaLeu)	inversion	not provided [RCV003549647]	Chr3:25598292..25598323 [GRCh38] Chr3:25639783..25639814 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2365_2366del (p.Ile789fs)	deletion	not provided [RCV003550214]	Chr3:25624426..25624427 [GRCh38] Chr3:25665917..25665918 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1704T>C (p.Ser568=)	single nucleotide variant	not provided [RCV003665952]	Chr3:25629131 [GRCh38] Chr3:25670622 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1535T>G (p.Leu512Arg)	single nucleotide variant	not provided [RCV003702594]	Chr3:25630340 [GRCh38] Chr3:25671831 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.355A>C (p.Arg119=)	single nucleotide variant	not provided [RCV003725864]	Chr3:25642362 [GRCh38] Chr3:25683853 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4298+15T>G	single nucleotide variant	not provided [RCV003834787]	Chr3:25607156 [GRCh38] Chr3:25648647 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4161T>C (p.Asp1387=)	single nucleotide variant	not provided [RCV003717305]	Chr3:25607308 [GRCh38] Chr3:25648799 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.711C>G (p.Cys237Trp)	single nucleotide variant	not provided [RCV003673514]	Chr3:25636077 [GRCh38] Chr3:25677568 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.754C>T (p.Leu252Phe)	single nucleotide variant	not provided [RCV003558961]	Chr3:25636034 [GRCh38] Chr3:25677525 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.621C>T (p.Tyr207=)	single nucleotide variant	not provided [RCV003839321]	Chr3:25637233 [GRCh38] Chr3:25678724 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1140T>C (p.His380=)	single nucleotide variant	not provided [RCV003669927]	Chr3:25632572 [GRCh38] Chr3:25674063 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.332-14G>T	single nucleotide variant	not provided [RCV003834356]	Chr3:25642399 [GRCh38] Chr3:25683890 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4299-5A>G	single nucleotide variant	not provided [RCV003851852]	Chr3:25606127 [GRCh38] Chr3:25647618 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4273C>G (p.Pro1425Ala)	single nucleotide variant	not provided [RCV003725633]	Chr3:25607196 [GRCh38] Chr3:25648687 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2382G>A (p.Gln794=)	single nucleotide variant	not provided [RCV003837738]	Chr3:25624410 [GRCh38] Chr3:25665901 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1347A>G (p.Ser449=)	single nucleotide variant	not provided [RCV003549564]	Chr3:25630859 [GRCh38] Chr3:25672350 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2347-17C>T	single nucleotide variant	not provided [RCV003701209]	Chr3:25624462 [GRCh38] Chr3:25665953 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2130A>G (p.Ala710=)	single nucleotide variant	not provided [RCV003717570]	Chr3:25626654 [GRCh38] Chr3:25668145 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.216T>C (p.Ile72=)	single nucleotide variant	not provided [RCV003671691]	Chr3:25645324 [GRCh38] Chr3:25686815 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.586A>G (p.Thr196Ala)	single nucleotide variant	not provided [RCV003725452]	Chr3:25637268 [GRCh38] Chr3:25678759 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4281A>G (p.Lys1427=)	single nucleotide variant	not provided [RCV003673956]	Chr3:25607188 [GRCh38] Chr3:25648679 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2602A>G (p.Met868Val)	single nucleotide variant	not provided [RCV003838717]	Chr3:25623640 [GRCh38] Chr3:25665131 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1033C>A (p.Arg345=)	single nucleotide variant	not provided [RCV003817580]	Chr3:25632788 [GRCh38] Chr3:25674279 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4096G>A (p.Glu1366Lys)	single nucleotide variant	not provided [RCV003561427]\|not specified [RCV004686783]	Chr3:25607373 [GRCh38] Chr3:25648864 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2408A>G (p.Asn803Ser)	single nucleotide variant	not provided [RCV003700747]	Chr3:25624384 [GRCh38] Chr3:25665875 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1766G>A (p.Gly589Asp)	single nucleotide variant	not provided [RCV003838031]	Chr3:25629069 [GRCh38] Chr3:25670560 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1267-16A>G	single nucleotide variant	not provided [RCV003700888]	Chr3:25630955 [GRCh38] Chr3:25672446 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4364A>T (p.Gln1455Leu)	single nucleotide variant	not provided [RCV003665974]	Chr3:25606057 [GRCh38] Chr3:25647548 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3064-6G>T	single nucleotide variant	not provided [RCV003836794]	Chr3:25618855 [GRCh38] Chr3:25660346 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-11T>A	single nucleotide variant	not provided [RCV003811255]	Chr3:25638321 [GRCh38] Chr3:25679812 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2346+7A>G	single nucleotide variant	not provided [RCV003580149]	Chr3:25624675 [GRCh38] Chr3:25666166 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4535A>T (p.Lys1512Ile)	single nucleotide variant	not provided [RCV003698349]	Chr3:25601180 [GRCh38] Chr3:25642671 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1070A>G (p.Lys357Arg)	single nucleotide variant	not provided [RCV003854461]	Chr3:25632751 [GRCh38] Chr3:25674242 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.69G>T (p.Val23=)	single nucleotide variant	not provided [RCV003579690]	Chr3:25664229 [GRCh38] Chr3:25705720 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.69+19G>A	single nucleotide variant	not provided [RCV003699964]	Chr3:25664210 [GRCh38] Chr3:25705701 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2495+18T>C	single nucleotide variant	not provided [RCV003672115]	Chr3:25624279 [GRCh38] Chr3:25665770 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.250G>T (p.Val84Leu)	single nucleotide variant	not provided [RCV003701685]	Chr3:25643775 [GRCh38] Chr3:25685266 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.396-13_396-12inv	inversion	not provided [RCV003835611]	Chr3:25638322..25638323 [GRCh38] Chr3:25679813..25679814 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1267-3T>A	single nucleotide variant	not provided [RCV003700663]	Chr3:25630942 [GRCh38] Chr3:25672433 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1026+17T>G	single nucleotide variant	not provided [RCV003814856]	Chr3:25633824 [GRCh38] Chr3:25675315 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.177A>G (p.Thr59=)	single nucleotide variant	not provided [RCV003549586]	Chr3:25645363 [GRCh38] Chr3:25686854 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3064-4T>C	single nucleotide variant	not provided [RCV003851974]	Chr3:25618853 [GRCh38] Chr3:25660344 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.640-3A>C	single nucleotide variant	not provided [RCV003833971]	Chr3:25636151 [GRCh38] Chr3:25677642 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.809C>T (p.Ser270Leu)	single nucleotide variant	not provided [RCV003558964]	Chr3:25635979 [GRCh38] Chr3:25677470 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1564-12C>T	single nucleotide variant	not provided [RCV003663797]	Chr3:25630166 [GRCh38] Chr3:25671657 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4285A>G (p.Lys1429Glu)	single nucleotide variant	not provided [RCV003813999]	Chr3:25607184 [GRCh38] Chr3:25648675 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2424T>C (p.Ile808=)	single nucleotide variant	not provided [RCV003567446]	Chr3:25624368 [GRCh38] Chr3:25665859 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.278G>T (p.Cys93Phe)	single nucleotide variant	not provided [RCV003847574]	Chr3:25643747 [GRCh38] Chr3:25685238 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4836_4850del (p.Ser1613_Glu1617del)	deletion	not provided [RCV003711121]	Chr3:25598338..25598352 [GRCh38] Chr3:25639829..25639843 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4171G>A (p.Asp1391Asn)	single nucleotide variant	not provided [RCV003703968]	Chr3:25607298 [GRCh38] Chr3:25648789 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1966C>T (p.Arg656Cys)	single nucleotide variant	not provided [RCV003821175]	Chr3:25627237 [GRCh38] Chr3:25668728 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3775AAG[3] (p.Lys1262del)	microsatellite	not provided [RCV003821011]	Chr3:25612515..25612517 [GRCh38] Chr3:25654006..25654008 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3886C>T (p.Pro1296Ser)	single nucleotide variant	not provided [RCV003563826]	Chr3:25609613 [GRCh38] Chr3:25651104 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1027-16A>G	single nucleotide variant	not provided [RCV003857176]	Chr3:25632810 [GRCh38] Chr3:25674301 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1281C>T (p.Gly427=)	single nucleotide variant	not provided [RCV003819264]	Chr3:25630925 [GRCh38] Chr3:25672416 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4379-9A>C	single nucleotide variant	not provided [RCV003842499]	Chr3:25604879 [GRCh38] Chr3:25646370 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.241-5T>C	single nucleotide variant	not provided [RCV003822270]	Chr3:25643789 [GRCh38] Chr3:25685280 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3234G>A (p.Glu1078=)	single nucleotide variant	not provided [RCV003553297]	Chr3:25618679 [GRCh38] Chr3:25660170 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4616-20dup	duplication	not provided [RCV003858593]	Chr3:25599548..25599549 [GRCh38] Chr3:25641039..25641040 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.4706G>C (p.Ser1569Thr)	single nucleotide variant	not provided [RCV003567201]	Chr3:25599439 [GRCh38] Chr3:25640930 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2475T>C (p.Arg825=)	single nucleotide variant	not provided [RCV003707810]	Chr3:25624317 [GRCh38] Chr3:25665808 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3209A>T (p.Asn1070Ile)	single nucleotide variant	not provided [RCV003568115]	Chr3:25618704 [GRCh38] Chr3:25660195 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3952C>T (p.Pro1318Ser)	single nucleotide variant	not provided [RCV003864294]	Chr3:25609324 [GRCh38] Chr3:25650815 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3646A>G (p.Ile1216Val)	single nucleotide variant	not provided [RCV003675152]	Chr3:25612655 [GRCh38] Chr3:25654146 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4197A>G (p.Ala1399=)	single nucleotide variant	not provided [RCV003818450]	Chr3:25607272 [GRCh38] Chr3:25648763 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4112C>T (p.Thr1371Ile)	single nucleotide variant	not provided [RCV003711482]	Chr3:25607357 [GRCh38] Chr3:25648848 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3576T>C (p.Phe1192=)	single nucleotide variant	not provided [RCV003734973]	Chr3:25615220 [GRCh38] Chr3:25656711 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4465A>G (p.Ser1489Gly)	single nucleotide variant	not provided [RCV003822893]	Chr3:25604784 [GRCh38] Chr3:25646275 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1077T>G (p.Ile359Met)	single nucleotide variant	not provided [RCV003727324]	Chr3:25632744 [GRCh38] Chr3:25674235 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2692A>G (p.Arg898Gly)	single nucleotide variant	not provided [RCV003565236]	Chr3:25623550 [GRCh38] Chr3:25665041 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3914G>A (p.Arg1305Lys)	single nucleotide variant	not provided [RCV003566172]	Chr3:25609585 [GRCh38] Chr3:25651076 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1405+6A>G	single nucleotide variant	not provided [RCV003704728]	Chr3:25630795 [GRCh38] Chr3:25672286 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4677C>G (p.Asn1559Lys)	single nucleotide variant	not provided [RCV003844046]	Chr3:25599468 [GRCh38] Chr3:25640959 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4346C>A (p.Ser1449Ter)	single nucleotide variant	not provided [RCV003711046]	Chr3:25606075 [GRCh38] Chr3:25647566 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4615+17T>G	single nucleotide variant	not provided [RCV003872362]	Chr3:25601083 [GRCh38] Chr3:25642574 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1077T>A (p.Ile359=)	single nucleotide variant	not provided [RCV003553473]	Chr3:25632744 [GRCh38] Chr3:25674235 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1589A>G (p.Asn530Ser)	single nucleotide variant	not provided [RCV003729792]	Chr3:25630129 [GRCh38] Chr3:25671620 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4834_4836dup (p.Glu1612_Ser1613insGlu)	duplication	not provided [RCV003847318]	Chr3:25598351..25598352 [GRCh38] Chr3:25639842..25639843 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	copy number gain	not specified [RCV003986437]	Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3	pathogenic
NM_001330700.2(TOP2B):c.4591C>G (p.Pro1531Ala)	single nucleotide variant	not provided [RCV003868397]	Chr3:25601124 [GRCh38] Chr3:25642615 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3845C>T (p.Pro1282Leu)	single nucleotide variant	not provided [RCV003872067]	Chr3:25609654 [GRCh38] Chr3:25651145 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2356A>G (p.Met786Val)	single nucleotide variant	not provided [RCV003685424]	Chr3:25624436 [GRCh38] Chr3:25665927 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.618A>G (p.Glu206=)	single nucleotide variant	not provided [RCV003868270]	Chr3:25637236 [GRCh38] Chr3:25678727 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2121T>C (p.Tyr707=)	single nucleotide variant	not provided [RCV003718972]	Chr3:25626663 [GRCh38] Chr3:25668154 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.219G>C (p.Gly73=)	single nucleotide variant	not provided [RCV003675362]	Chr3:25645321 [GRCh38] Chr3:25686812 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3063+20G>A	single nucleotide variant	not provided [RCV003848534]	Chr3:25619842 [GRCh38] Chr3:25661333 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1266+14G>A	single nucleotide variant	not provided [RCV003846499]	Chr3:25632432 [GRCh38] Chr3:25673923 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2052A>G (p.Glu684=)	single nucleotide variant	not provided [RCV003682119]	Chr3:25626829 [GRCh38] Chr3:25668320 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4774A>G (p.Thr1592Ala)	single nucleotide variant	not provided [RCV003686076]	Chr3:25598414 [GRCh38] Chr3:25639905 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.146T>G (p.Leu49Trp)	single nucleotide variant	not provided [RCV003841710]	Chr3:25645394 [GRCh38] Chr3:25686885 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1210C>A (p.Leu404Met)	single nucleotide variant	not provided [RCV003843237]	Chr3:25632502 [GRCh38] Chr3:25673993 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4836G>A (p.Glu1612=)	single nucleotide variant	not provided [RCV003682253]	Chr3:25598352 [GRCh38] Chr3:25639843 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1269C>A (p.Ala423=)	single nucleotide variant	not provided [RCV003685769]	Chr3:25630937 [GRCh38] Chr3:25672428 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.639+7dup	duplication	not provided [RCV003685770]	Chr3:25637207..25637208 [GRCh38] Chr3:25678698..25678699 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2224+10A>G	single nucleotide variant	not provided [RCV003551777]	Chr3:25626550 [GRCh38] Chr3:25668041 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4533A>G (p.Pro1511=)	single nucleotide variant	not provided [RCV003707837]	Chr3:25601182 [GRCh38] Chr3:25642673 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.709T>C (p.Cys237Arg)	single nucleotide variant	not provided [RCV003706589]	Chr3:25636079 [GRCh38] Chr3:25677570 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4490-1G>A	single nucleotide variant	not provided [RCV003867442]	Chr3:25601226 [GRCh38] Chr3:25642717 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3399C>T (p.Ser1133=)	single nucleotide variant	not provided [RCV003738591]	Chr3:25615539 [GRCh38] Chr3:25657030 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.102AGA[1] (p.Glu36del)	microsatellite	not provided [RCV003738625]	Chr3:25645433..25645435 [GRCh38] Chr3:25686924..25686926 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.128A>T (p.Asn43Ile)	single nucleotide variant	not provided [RCV003684250]	Chr3:25645412 [GRCh38] Chr3:25686903 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4812G>A (p.Arg1604=)	single nucleotide variant	not provided [RCV003684448]	Chr3:25598376 [GRCh38] Chr3:25639867 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1026+20G>T	single nucleotide variant	not provided [RCV003823404]	Chr3:25633821 [GRCh38] Chr3:25675312 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4668C>G (p.Gly1556=)	single nucleotide variant	not provided [RCV003853955]	Chr3:25599477 [GRCh38] Chr3:25640968 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2016+15T>G	single nucleotide variant	not provided [RCV003683615]	Chr3:25627172 [GRCh38] Chr3:25668663 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4110C>T (p.Tyr1370=)	single nucleotide variant	not provided [RCV003565711]	Chr3:25607359 [GRCh38] Chr3:25648850 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4094-14A>G	single nucleotide variant	not provided [RCV003864545]	Chr3:25607389 [GRCh38] Chr3:25648880 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2727+19T>C	single nucleotide variant	not provided [RCV003862517]	Chr3:25623496 [GRCh38] Chr3:25664987 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4252A>G (p.Lys1418Glu)	single nucleotide variant	not provided [RCV003679757]	Chr3:25607217 [GRCh38] Chr3:25648708 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2013C>T (p.Thr671=)	single nucleotide variant	not provided [RCV003709885]	Chr3:25627190 [GRCh38] Chr3:25668681 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4615+9T>A	single nucleotide variant	not provided [RCV003710202]	Chr3:25601091 [GRCh38] Chr3:25642582 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-4A>G	single nucleotide variant	not provided [RCV003680685]	Chr3:25638314 [GRCh38] Chr3:25679805 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4093+14T>G	single nucleotide variant	not provided [RCV003682241]	Chr3:25609169 [GRCh38] Chr3:25650660 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4805G>C (p.Arg1602Pro)	single nucleotide variant	not provided [RCV003565970]	Chr3:25598383 [GRCh38] Chr3:25639874 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2495+13T>A	single nucleotide variant	not provided [RCV003708912]	Chr3:25624284 [GRCh38] Chr3:25665775 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.78dup (p.Asp27Ter)	duplication	not provided [RCV003847686]	Chr3:25645461..25645462 [GRCh38] Chr3:25686952..25686953 [GRCh37] Chr3:3p24.2	benign
NM_001330700.2(TOP2B):c.955G>A (p.Asp319Asn)	single nucleotide variant	not provided [RCV003727043]\|not specified [RCV004374235]	Chr3:25633912 [GRCh38] Chr3:25675403 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.724C>G (p.Pro242Ala)	single nucleotide variant	not provided [RCV003858266]	Chr3:25636064 [GRCh38] Chr3:25677555 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4464A>G (p.Pro1488=)	single nucleotide variant	not provided [RCV003682823]	Chr3:25604785 [GRCh38] Chr3:25646276 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2757G>A (p.Thr919=)	single nucleotide variant	not provided [RCV003821745]	Chr3:25620787 [GRCh38] Chr3:25662278 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2803T>C (p.Phe935Leu)	single nucleotide variant	not provided [RCV003841866]	Chr3:25620741 [GRCh38] Chr3:25662232 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4777G>A (p.Glu1593Lys)	single nucleotide variant	not provided [RCV003712221]	Chr3:25598411 [GRCh38] Chr3:25639902 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2968G>A (p.Val990Met)	single nucleotide variant	not provided [RCV003712279]	Chr3:25619957 [GRCh38] Chr3:25661448 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.636G>A (p.Lys212=)	single nucleotide variant	not provided [RCV003550307]	Chr3:25637218 [GRCh38] Chr3:25678709 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4790T>C (p.Leu1597Pro)	single nucleotide variant	not provided [RCV003846297]	Chr3:25598398 [GRCh38] Chr3:25639889 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.810G>C (p.Ser270=)	single nucleotide variant	not provided [RCV003709350]	Chr3:25635978 [GRCh38] Chr3:25677469 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3599A>G (p.Glu1200Gly)	single nucleotide variant	not provided [RCV003562394]	Chr3:25612702 [GRCh38] Chr3:25654193 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4711-13A>G	single nucleotide variant	not provided [RCV003564865]	Chr3:25598490 [GRCh38] Chr3:25639981 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.891A>C (p.Lys297Asn)	single nucleotide variant	not provided [RCV003567993]	Chr3:25633976 [GRCh38] Chr3:25675467 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2725A>G (p.Met909Val)	single nucleotide variant	not provided [RCV003858589]	Chr3:25623517 [GRCh38] Chr3:25665008 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3592-3T>C	single nucleotide variant	not provided [RCV003556559]	Chr3:25612712 [GRCh38] Chr3:25654203 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4298+10G>A	single nucleotide variant	not provided [RCV003861830]	Chr3:25607161 [GRCh38] Chr3:25648652 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.395C>T (p.Pro132Leu)	single nucleotide variant	not provided [RCV003731751]	Chr3:25642322 [GRCh38] Chr3:25683813 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.996C>T (p.Ile332=)	single nucleotide variant	not provided [RCV003864628]	Chr3:25633871 [GRCh38] Chr3:25675362 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.1810A>C (p.Asn604His)	single nucleotide variant	not provided [RCV003730022]	Chr3:25628943 [GRCh38] Chr3:25670434 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3063+8A>T	single nucleotide variant	not provided [RCV003823122]	Chr3:25619854 [GRCh38] Chr3:25661345 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2728-6C>T	single nucleotide variant	not provided [RCV003822645]	Chr3:25620822 [GRCh38] Chr3:25662313 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.4770C>T (p.Phe1590=)	single nucleotide variant	not provided [RCV003705592]	Chr3:25598418 [GRCh38] Chr3:25639909 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2377G>T (p.Ala793Ser)	single nucleotide variant	not provided [RCV003677536]	Chr3:25624415 [GRCh38] Chr3:25665906 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3931+19T>A	single nucleotide variant	not provided [RCV003866518]	Chr3:25609549 [GRCh38] Chr3:25651040 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3345A>C (p.Gln1115His)	single nucleotide variant	not provided [RCV003845809]	Chr3:25618424 [GRCh38] Chr3:25659915 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3508G>A (p.Gly1170Arg)	single nucleotide variant	not provided [RCV003847409]	Chr3:25615288 [GRCh38] Chr3:25656779 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2566C>T (p.Arg856Cys)	single nucleotide variant	not provided [RCV003541932]	Chr3:25623676 [GRCh38] Chr3:25665167 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3962C>G (p.Ser1321Cys)	single nucleotide variant	not provided [RCV003844052]	Chr3:25609314 [GRCh38] Chr3:25650805 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV003989430]	Chr3:25609222 [GRCh38] Chr3:25650713 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV003991721]	Chr3:25630079 [GRCh38] Chr3:25671570 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.-9G>T	single nucleotide variant	TOP2B-related disorder [RCV003971518]	Chr3:25664306 [GRCh38] Chr3:25705797 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.396-10T>A	single nucleotide variant	TOP2B-related disorder [RCV003901401]	Chr3:25638320 [GRCh38] Chr3:25679811 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.3239T>C (p.Ile1080Thr)	single nucleotide variant	not specified [RCV004468061]	Chr3:25618674 [GRCh38] Chr3:25660165 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.626A>T (p.His209Leu)	single nucleotide variant	not specified [RCV004468066]	Chr3:25637228 [GRCh38] Chr3:25678719 [GRCh37] Chr3:3p24.2	uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	copy number gain	not provided [RCV004577500]	Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3	pathogenic
NM_001330700.2(TOP2B):c.3230dup (p.Leu1077fs)	duplication	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV004555975]	Chr3:25618682..25618683 [GRCh38] Chr3:25660173..25660174 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4382C>T (p.Ser1461Leu)	single nucleotide variant	not specified [RCV004468063]	Chr3:25604867 [GRCh38] Chr3:25646358 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4703C>T (p.Thr1568Ile)	single nucleotide variant	not specified [RCV004468065]	Chr3:25599442 [GRCh38] Chr3:25640933 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4148A>G (p.Asp1383Gly)	single nucleotide variant	not specified [RCV004468062]	Chr3:25607321 [GRCh38] Chr3:25648812 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4438G>T (p.Gly1480Cys)	single nucleotide variant	not specified [RCV004468064]	Chr3:25604811 [GRCh38] Chr3:25646302 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4505A>T (p.Asp1502Val)	single nucleotide variant	not specified [RCV004687569]	Chr3:25601210 [GRCh38] Chr3:25642701 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4517A>C (p.Lys1506Thr)	single nucleotide variant	not provided [RCV004575924]	Chr3:25601198 [GRCh38] Chr3:25642689 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4139A>C (p.Asp1380Ala)	single nucleotide variant	not specified [RCV004682601]	Chr3:25607330 [GRCh38] Chr3:25648821 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1825T>G (p.Ser609Ala)	single nucleotide variant	not specified [RCV004682602]	Chr3:25628928 [GRCh38] Chr3:25670419 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.4087G>C (p.Ala1363Pro)	single nucleotide variant	not specified [RCV004682603]	Chr3:25609189 [GRCh38] Chr3:25650680 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1854A>G (p.Glu618=)	single nucleotide variant	not provided [RCV004575223]	Chr3:25628899 [GRCh38] Chr3:25670390 [GRCh37] Chr3:3p24.2	likely benign
NM_001330700.2(TOP2B):c.2323A>G (p.Met775Val)	single nucleotide variant	not provided [RCV004772522]	Chr3:25624705 [GRCh38] Chr3:25666196 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3129C>A (p.Phe1043Leu)	single nucleotide variant	not provided [RCV004781430]	Chr3:25618784 [GRCh38] Chr3:25660275 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.577A>G (p.Ile193Val)	single nucleotide variant	not provided [RCV004761572]		uncertain significance
NM_001330700.2(TOP2B):c.4151A>C (p.Asp1384Ala)	single nucleotide variant	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [RCV004727215]	Chr3:25607318 [GRCh38] Chr3:25648809 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.1601T>G (p.Ile534Arg)	single nucleotide variant	not provided [RCV004762514]		uncertain significance
NM_001330700.2(TOP2B):c.4588A>C (p.Ile1530Leu)	single nucleotide variant	not provided [RCV004763127]		uncertain significance
NM_001330700.2(TOP2B):c.197T>G (p.Leu66Arg)	single nucleotide variant	not provided [RCV004769656]	Chr3:25645343 [GRCh38] Chr3:25686834 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.3161G>C (p.Arg1054Pro)	single nucleotide variant	not provided [RCV004763887]		uncertain significance
NM_001330700.2(TOP2B):c.4522A>G (p.Lys1508Glu)	single nucleotide variant	not specified [RCV004702863]	Chr3:25601193 [GRCh38] Chr3:25642684 [GRCh37] Chr3:3p24.2	uncertain significance
NM_001330700.2(TOP2B):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV004725900]	Chr3:25664296 [GRCh38] Chr3:25705787 [GRCh37] Chr3:3p24.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1404
Count of miRNA genes:	632
Interacting mature miRNAs:	728
Transcripts:	ENST00000264331, ENST00000413971, ENST00000424225, ENST00000435706, ENST00000470132, ENST00000475717, ENST00000491510, ENST00000540199, ENST00000542520
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2316061	GLUCO194_H	Glucose level QTL 194 (human)		0.02	Glucose level		3	23380774	49380774	Human
407056093	GWAS705069_H	chronic obstructive pulmonary disease QTL GWAS705069 (human)		0.000001	lung integrity trait (VT:0010906)		3	25628675	25628676	Human

Markers in Region

D3S4380

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	25,706,197 - 25,706,341	UniSTS	GRCh37
Build 36	3	25,681,201 - 25,681,345	RGD	NCBI36
Celera	3	25,643,075 - 25,643,219	RGD
HuRef	3	25,651,756 - 25,651,900	UniSTS

D3S3335

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	25,639,049 - 25,639,396	UniSTS	GRCh37
Build 36	3	25,614,053 - 25,614,400	RGD	NCBI36
Celera	3	25,575,927 - 25,576,274	RGD
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	3	p24	UniSTS
HuRef	3	25,584,525 - 25,584,872	UniSTS
Whitehead-YAC Contig Map	3		UniSTS

SGC31578

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	25,639,592 - 25,639,795	UniSTS	GRCh37
Build 36	3	25,614,596 - 25,614,799	RGD	NCBI36
Celera	3	25,576,470 - 25,576,673	RGD
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	3	p24	UniSTS
HuRef	3	25,585,068 - 25,585,271	UniSTS
GeneMap99-GB4 RH Map	3	84.97	UniSTS
Whitehead-RH Map	3	87.6	UniSTS
NCBI RH Map	3	230.4	UniSTS

MARC_23644-23645:1029443453:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	25,639,919 - 25,640,997	UniSTS	GRCh37
Build 36	3	25,614,923 - 25,616,001	RGD	NCBI36
Celera	3	25,576,797 - 25,577,875	RGD
HuRef	3	25,585,395 - 25,586,473	UniSTS

TOP2B_3877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	25,639,317 - 25,639,957	UniSTS	GRCh37
Build 36	3	25,614,321 - 25,614,961	RGD	NCBI36
Celera	3	25,576,195 - 25,576,835	RGD
HuRef	3	25,584,793 - 25,585,433	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_052961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001068	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001330700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011534057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347710	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001740241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB208879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH006995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC021863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC054482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF514624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM150930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF583564	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M27504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U54831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U65315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U96765	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X53662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X68060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X71911	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z15111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z15115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000264331 ⟹ ENSP00000264331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,984 - 25,664,907 (-)	Ensembl

Ensembl Acc Id:

ENST00000413971 ⟹ ENSP00000388216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,984 - 25,618,849 (-)	Ensembl

Ensembl Acc Id:

ENST00000424225 ⟹ ENSP00000391112

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,615,473 - 25,664,907 (-)	Ensembl

Ensembl Acc Id:

ENST00000435706 ⟹ ENSP00000396704

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,986 - 25,664,499 (-)	Ensembl

Ensembl Acc Id:

ENST00000470132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,625,926 (-)	Ensembl

Ensembl Acc Id:

ENST00000475717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,612,571 - 25,615,941 (-)	Ensembl

Ensembl Acc Id:

ENST00000491510

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,627,057 - 25,630,155 (-)	Ensembl

Ensembl Acc Id:

ENST00000699028

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,615,800 (-)	Ensembl

Ensembl Acc Id:

ENST00000699029

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,626,049 (-)	Ensembl

Ensembl Acc Id:

ENST00000699030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,626,986 (-)	Ensembl

Ensembl Acc Id:

ENST00000699031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,645,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000699032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,645,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000699033

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,978 - 25,645,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000699034

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,597,998 - 25,605,048 (-)	Ensembl

Ensembl Acc Id:

ENST00000699035

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,004 - 25,609,974 (-)	Ensembl

Ensembl Acc Id:

ENST00000699036

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,004 - 25,616,251 (-)	Ensembl

Ensembl Acc Id:

ENST00000699037 ⟹ ENSP00000514096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,004 - 25,645,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000699038 ⟹ ENSP00000514097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,004 - 25,645,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000699039

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,024 - 25,602,380 (-)	Ensembl

Ensembl Acc Id:

ENST00000699040

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,031 - 25,602,227 (-)	Ensembl

Ensembl Acc Id:

ENST00000699041

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,036 - 25,602,325 (-)	Ensembl

Ensembl Acc Id:

ENST00000699042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,598,036 - 25,612,791 (-)	Ensembl

Ensembl Acc Id:

ENST00000699043 ⟹ ENSP00000514098

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,605,611 - 25,664,909 (-)	Ensembl

Ensembl Acc Id:

ENST00000699044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,616,978 - 25,645,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000699045

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,622,835 - 25,625,911 (-)	Ensembl

Ensembl Acc Id:

ENST00000699046

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	25,626,433 - 25,631,332 (-)	Ensembl

RefSeq Acc Id:

NM_001068 ⟹ NP_001059

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	25,597,905 - 25,664,372 (-)	NCBI
GRCh37	3	25,639,396 - 25,706,396 (-)	NCBI
Build 36	3	25,614,479 - 25,680,792 (-)	NCBI Archive
HuRef	3	25,584,872 - 25,651,422 (-)	NCBI
CHM1_1	3	25,589,386 - 25,655,854 (-)	NCBI
T2T-CHM13v2.0	3	25,600,752 - 25,667,219 (-)	NCBI

Sequence:

show sequence

GCGGGGCCCAGCGGCCCGCAGGGAGGCGGGAGCGGCGGCTGCGGCCTCAGGGCCTGTGAGCTGG
AGGCACTCGCCATGGCCAAGTCGGGTGGCTGCGGCGCGGGAGCCGGCGTGGGCGGCGGCAACGG
GGCACTGACCTGGGTGAACAATGCTGCAAAAAAAGAAGAGTCAGAAACTGCCAACAAAAATGAT
TCTTCAAAGAAGTTGTCTGTTGAGAGAGTGTATCAGAAGAAGACACAACTTGAACACATTCTTC
TTCGTCCTGATACATATATTGGGTCAGTGGAGCCATTGACGCAGTTCATGTGGGTGTATGATGA
AGATGTAGGAATGAATTGCAGGGAGGTTACCTTTGTGCCAGGTTTATACAAGATCTTTGATGAA
ATTTTGGTTAATGCTGCTGACAATAAACAGAGGGATAAGAACATGACTTGTATTAAAGTTTCTA
TTGATCCTGAATCTAACATTATAAGCATTTGGAATAATGGGAAAGGCATTCCAGTAGTAGAACA
CAAGGTAGAGAAAGTTTATGTTCCTGCTTTAATTTTTGGACAGCTTTTAACATCCAGTAACTAT
GATGATGATGAGAAAAAAGTTACAGGTGGTCGTAATGGTTATGGTGCAAAACTTTGTAATATTT
TCAGTACAAAGTTTACAGTAGAAACAGCTTGCAAAGAATACAAACACAGTTTTAAGCAGACATG
GATGAATAATATGATGAAGACTTCTGAAGCCAAAATTAAACATTTTGATGGTGAAGATTACACA
TGCATAACATTCCAACCAGATCTGTCCAAATTTAAGATGGAAAAACTTGACAAGGATATTGTGG
CCCTCATGACTAGAAGGGCATATGATTTGGCTGGTTCGTGTAGAGGGGTCAAGGTCATGTTTAA
TGGAAAGAAATTGCCTGTAAATGGATTTCGCAGTTATGTAGATCTTTATGTGAAAGACAAATTG
GATGAAACTGGGGTGGCCCTGAAAGTTATTCATGAGCTTGCAAATGAAAGATGGGATGTTTGTC
TCACATTGAGTGAAAAAGGATTCCAGCAAATCAGCTTTGTAAATAGTATTGCAACTACAAAAGG
TGGACGGCACGTGGATTATGTGGTAGATCAAGTTGTTGGTAAACTGATTGAAGTAGTTAAGAAA
AAGAACAAAGCTGGTGTATCAGTGAAACCATTTCAAGTAAAAAACCATATATGGGTTTTTATTA
ATTGCCTTATTGAAAATCCAACTTTTGATTCTCAGACTAAGGAAAACATGACTCTGCAGCCCAA
AAGTTTTGGGTCTAAATGCCAGCTGTCAGAAAAATTTTTTAAAGCAGCCTCTAATTGTGGCATT
GTAGAAAGTATCCTGAACTGGGTGAAATTTAAGGCTCAGACTCAGCTGAATAAGAAGTGTTCAT
CAGTAAAATACAGTAAAATCAAAGGTATTCCCAAACTGGATGATGCTAATGATGCTGGTGGTAA
ACATTCCCTGGAGTGTACACTGATATTAACAGAGGGAGACTCTGCCAAATCACTGGCTGTGTCT
GGATTAGGTGTGATTGGACGAGACAGATACGGAGTTTTTCCACTCAGGGGCAAAATTCTTAATG
TACGGGAAGCTTCTCATAAACAGATCATGGAAAATGCTGAAATAAATAATATTATTAAAATAGT
TGGTCTACAATATAAGAAAAGTTACGATGATGCAGAATCTCTGAAAACCTTACGCTATGGAAAG
ATTATGATTATGACCGATCAGGATCAAGATGGTTCTCACATAAAAGGCCTGCTTATTAATTTCA
TCCATCACAATTGGCCATCACTTTTGAAGCATGGTTTTCTTGAAGAGTTCATTACTCCTATTGT
AAAGGCAAGCAAAAATAAGCAGGAACTTTCCTTCTACAGTATTCCTGAATTTGACGAATGGAAA
AAACATATAGAAAACCAGAAAGCCTGGAAAATAAAGTACTATAAAGGATTGGGTACTAGTACAG
CTAAAGAAGCAAAGGAATATTTTGCTGATATGGAAAGGCATCGCATCTTGTTTAGATATGCTGG
TCCTGAAGATGATGCTGCCATTACCTTGGCATTTAGTAAGAAGAAGATTGATGACAGAAAAGAA
TGGTTAACAAATTTTATGGAAGACCGGAGACAGCGTAGGCTACATGGCTTACCAGAGCAATTTT
TATATGGTACTGCAACAAAGCATTTGACTTATAATGATTTCATCAACAAGGAATTGATTCTCTT
CTCAAACTCAGACAATGAAAGATCTATACCATCTCTTGTTGATGGCTTTAAACCTGGCCAGCGG
AAAGTTTTATTTACCTGTTTCAAGAGGAATGATAAACGTGAAGTAAAAGTTGCCCAGTTGGCTG
GCTCTGTTGCTGAGATGTCGGCTTATCATCATGGAGAACAAGCATTGATGATGACTATTGTGAA
TTTGGCTCAGAACTTTGTGGGAAGTAACAACATTAACTTGCTTCAGCCTATTGGTCAGTTTGGA
ACTCGGCTTCATGGTGGCAAAGATGCTGCAAGCCCTCGTTATATTTTCACAATGTTAAGCACTT
TAGCAAGGCTACTTTTTCCTGCTGTGGATGACAACCTCCTTAAGTTCCTTTATGATGATAATCA
ACGTGTAGAGCCTGAGTGGTATATTCCTATAATTCCCATGGTTTTAATAAATGGTGCTGAGGGC
ATTGGTACTGGATGGGCTTGTAAACTACCCAACTATGATGCTAGGGAAATTGTGAACAATGTCA
GACGAATGCTAGATGGCCTGGATCCTCATCCCATGCTTCCAAACTACAAAAACTTTAAAGGCAC
GATTCAAGAACTTGGTCAAAACCAGTATGCAGTCAGTGGTGAAATATTTGTAGTGGACAGAAAC
ACAGTAGAAATTACAGAGCTTCCAGTTAGAACTTGGACACAGGTATATAAAGAACAGGTTTTAG
AACCTATGCTAAATGGAACAGATAAAACACCAGCATTAATTTCTGATTATAAAGAATATCATAC
TGACACAACTGTGAAATTTGTGGTGAAAATGACTGAAGAGAAACTAGCACAAGCAGAAGCTGCT
GGACTGCATAAAGTTTTTAAACTTCAAACTACTCTTACTTGTAATTCCATGGTACTTTTTGATC
ATATGGGATGTCTGAAGAAATATGAAACTGTGCAAGACATTCTGAAAGAATTCTTTGATTTACG
ATTAAGTTATTACGGTTTACGTAAGGAGTGGCTTGTGGGAATGTTGGGAGCAGAATCTACAAAG
CTTAACAATCAAGCCCGTTTCATTTTAGAGAAGATACAAGGGAAAATTACTATAGAGAATAGGT
CAAAGAAAGATTTGATTCAAATGTTAGTCCAGAGAGGTTATGAATCTGACCCAGTGAAAGCCTG
GAAAGAAGCACAAGAAAAGGCAGCAGAAGAGGATGAAACACAAAACCAGCATGATGATAGTTCC
TCCGATTCAGGAACTCCTTCAGGCCCAGATTTTAATTATATTTTAAATATGTCTCTGTGGTCTC
TTACTAAAGAAAAAGTTGAAGAACTGATTAAACAGAGAGATGCAAAAGGGCGAGAGGTCAATGA
TCTTAAAAGAAAATCTCCTTCAGATCTTTGGAAAGAGGATTTAGCGGCATTTGTTGAAGAACTG
GATAAAGTGGAATCTCAAGAACGAGAAGATGTTCTGGCTGGAATGTCTGGAAAAGCAATTAAAG
GTAAAGTTGGCAAACCTAAGGTGAAGAAACTCCAGTTGGAAGAGACAATGCCCTCACCTTATGG
CAGAAGAATAATTCCTGAAATTACAGCTATGAAGGCAGATGCCAGCAAAAAGTTGCTGAAGAAG
AAGAAGGGTGATCTTGATACTGCAGCAGTAAAAGTGGAATTTGATGAAGAATTCAGTGGAGCAC
CAGTAGAAGGTGCAGGAGAAGAGGCATTGACTCCATCAGTTCCTATAAATAAAGGTCCCAAACC
TAAGAGGGAGAAGAAGGAGCCTGGTACCAGAGTGAGAAAAACACCTACATCATCTGGTAAACCT
AGTGCAAAGAAAGTGAAGAAACGGAATCCTTGGTCAGATGATGAATCCAAGTCAGAAAGTGATT
TGGAAGAAACAGAACCTGTGGTTATTCCAAGAGATTCTTTGCTTAGGAGAGCAGCAGCCGAAAG
ACCTAAATACACATTTGATTTCTCAGAAGAAGAGGATGATGATGCTGATGATGATGATGATGAC
AATAATGATTTAGAGGAATTGAAAGTTAAAGCATCTCCCATAACAAATGATGGGGAAGATGAAT
TTGTTCCTTCAGATGGGTTAGATAAAGATGAATATACATTTTCACCAGGCAAATCAAAAGCCAC
TCCAGAAAAATCTTTGCATGACAAAAAAAGTCAGGATTTTGGAAATCTCTTCTCATTTCCTTCA
TATTCTCAGAAGTCAGAAGATGATTCAGCTAAATTTGACAGTAATGAAGAAGATTCTGCTTCTG
TTTTTTCACCATCATTTGGTCTGAAACAGACAGATAAAGTTCCAAGTAAAACGGTAGCTGCTAA
AAAGGGAAAACCGTCTTCAGATACAGTCCCTAAGCCCAAGAGAGCCCCAAAACAGAAGAAAGTA
GTAGAGGCTGTAAACTCTGACTCGGATTCAGAATTTGGCATTCCAAAGAAGACTACAACACCAA
AAGGTAAAGGCCGAGGGGCAAAGAAAAGGAAAGCATCTGGCTCTGAAAATGAAGGCGATTATAA
CCCTGGCAGGAAAACATCCAAAACAACAAGCAAGAAACCGAAGAAGACATCTTTTGATCAGGAT
TCAGATGTGGACATCTTCCCCTCAGACTTCCCTACTGAGCCACCTTCTCTGCCACGAACCGGTC
GGGCTAGGAAAGAAGTAAAATATTTTGCAGAGTCTGATGAAGAAGAAGATGATGTTGATTTTGC
AATGTTTAATTAAGTGCCCAAAGAGCACAAACATTTTTCAACAAATATCTTGTGTTGTCCTTTT
GTCTTCTCTGTCTCAGACTTTTGTACATCTGGCTTATTTTAATGTGATGATGTAATTGACGGTT
TTTTATTATTGTGGTAGGCCTTTTAACATTTTGTTCTTACACATACAGTTTTATGCTCTTTTTT
ACTCATTGAAATGTCACGTACTGTCTGATTGGCTTGTAGAATTGTTATAGACTGCCGTGCATTA
GCACAGATTTTAATTGTCATGGTTACAAACTACAGACCTGCTTTTTGAAATGAAATTTAAACAT
TAAAAATGGAACTGTGTTCTCTGTCTCTTTACTGAAGATAAAGGTGTAGTAAAAGCTCCCACAC
ACCTTTAAAATAAATATATTTTATTCTTTGCAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001330700 ⟹ NP_001317629

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	25,597,984 - 25,664,907 (-)	NCBI
T2T-CHM13v2.0	3	25,600,831 - 25,667,754 (-)	NCBI

Sequence:

show sequence

GTGTGTGCGGTGTTATGCCGGACAAGAGGGAGGTGACCGTGGCGGCGGCGGCGGCGGCTCTGTT
TATTGTCCCTCTCGGTGTGTGTGTGTGAGGAAATCGGGGCTGCAGCGAGGCTAAGGCTGCCTTT
GAAGCAGCGGCGGCGACCGGGACGACTACTCTGGCGACTCGAGTGGCTGGCCTTCGCGGAGTGT
GAGAAGGACAAGGCACCTCTGCGTCCTCGCCACGTCCGAGCGCCTCGGGCTCCCCGGCCGCCCT
CGCGGCTCGCACGCCCGGGCTTCAGCCCGGCCTGCAGCGGCGCCCGCGGGCGGGCGAGAAGGCA
ACGCCGCCGCTCGGCCGCCGCCGGTCGCTCCCTGCTTTCTCCTCAGCCGCCGCGCTAGGCCCGG
GCGACGCGGACGCCGCGCCTCGAGTTTGAGGGCAGCCGGCGGCGCGGCCTCCTCAGCGGGCTCG
GCTGGACGTCCGCTCCGGATCTTCGCGATGGGGCGCGGGGGTCGGCGCGGCTAGGAGTGCGGCG
AGTGGAGCGGTGGGTGCGGAGCGGCGGGGCCCAGCGGCCCGCAGGGAGGCGGGAGCGGCGGCTG
CGGCCTCAGGGCCTGTGAGCTGGAGGCACTCGCCATGGCCAAGTCGGGTGGCTGCGGCGCGGGA
GCCGGCGTGGGCGGCGGCAACGGGGCACTGACCTGGGTGACTCTTTTTGATCAGAACAATGCTG
CAAAAAAAGAAGAGTCAGAAACTGCCAACAAAAATGATTCTTCAAAGAAGTTGTCTGTTGAGAG
AGTGTATCAGAAGAAGACACAACTTGAACACATTCTTCTTCGTCCTGATACATATATTGGGTCA
GTGGAGCCATTGACGCAGTTCATGTGGGTGTATGATGAAGATGTAGGAATGAATTGCAGGGAGG
TTACCTTTGTGCCAGGTTTATACAAGATCTTTGATGAAATTTTGGTTAATGCTGCTGACAATAA
ACAGAGGGATAAGAACATGACTTGTATTAAAGTTTCTATTGATCCTGAATCTAACATTATAAGC
ATTTGGAATAATGGGAAAGGCATTCCAGTAGTAGAACACAAGGTAGAGAAAGTTTATGTTCCTG
CTTTAATTTTTGGACAGCTTTTAACATCCAGTAACTATGATGATGATGAGAAAAAAGTTACAGG
TGGTCGTAATGGTTATGGTGCAAAACTTTGTAATATTTTCAGTACAAAGTTTACAGTAGAAACA
GCTTGCAAAGAATACAAACACAGTTTTAAGCAGACATGGATGAATAATATGATGAAGACTTCTG
AAGCCAAAATTAAACATTTTGATGGTGAAGATTACACATGCATAACATTCCAACCAGATCTGTC
CAAATTTAAGATGGAAAAACTTGACAAGGATATTGTGGCCCTCATGACTAGAAGGGCATATGAT
TTGGCTGGTTCGTGTAGAGGGGTCAAGGTCATGTTTAATGGAAAGAAATTGCCTGTAAATGGAT
TTCGCAGTTATGTAGATCTTTATGTGAAAGACAAATTGGATGAAACTGGGGTGGCCCTGAAAGT
TATTCATGAGCTTGCAAATGAAAGATGGGATGTTTGTCTCACATTGAGTGAAAAAGGATTCCAG
CAAATCAGCTTTGTAAATAGTATTGCAACTACAAAAGGTGGACGGCACGTGGATTATGTGGTAG
ATCAAGTTGTTGGTAAACTGATTGAAGTAGTTAAGAAAAAGAACAAAGCTGGTGTATCAGTGAA
ACCATTTCAAGTAAAAAACCATATATGGGTTTTTATTAATTGCCTTATTGAAAATCCAACTTTT
GATTCTCAGACTAAGGAAAACATGACTCTGCAGCCCAAAAGTTTTGGGTCTAAATGCCAGCTGT
CAGAAAAATTTTTTAAAGCAGCCTCTAATTGTGGCATTGTAGAAAGTATCCTGAACTGGGTGAA
ATTTAAGGCTCAGACTCAGCTGAATAAGAAGTGTTCATCAGTAAAATACAGTAAAATCAAAGGT
ATTCCCAAACTGGATGATGCTAATGATGCTGGTGGTAAACATTCCCTGGAGTGTACACTGATAT
TAACAGAGGGAGACTCTGCCAAATCACTGGCTGTGTCTGGATTAGGTGTGATTGGACGAGACAG
ATACGGAGTTTTTCCACTCAGGGGCAAAATTCTTAATGTACGGGAAGCTTCTCATAAACAGATC
ATGGAAAATGCTGAAATAAATAATATTATTAAAATAGTTGGTCTACAATATAAGAAAAGTTACG
ATGATGCAGAATCTCTGAAAACCTTACGCTATGGAAAGATTATGATTATGACCGATCAGGATCA
AGATGGTTCTCACATAAAAGGCCTGCTTATTAATTTCATCCATCACAATTGGCCATCACTTTTG
AAGCATGGTTTTCTTGAAGAGTTCATTACTCCTATTGTAAAGGCAAGCAAAAATAAGCAGGAAC
TTTCCTTCTACAGTATTCCTGAATTTGACGAATGGAAAAAACATATAGAAAACCAGAAAGCCTG
GAAAATAAAGTACTATAAAGGATTGGGTACTAGTACAGCTAAAGAAGCAAAGGAATATTTTGCT
GATATGGAAAGGCATCGCATCTTGTTTAGATATGCTGGTCCTGAAGATGATGCTGCCATTACCT
TGGCATTTAGTAAGAAGAAGATTGATGACAGAAAAGAATGGTTAACAAATTTTATGGAAGACCG
GAGACAGCGTAGGCTACATGGCTTACCAGAGCAATTTTTATATGGTACTGCAACAAAGCATTTG
ACTTATAATGATTTCATCAACAAGGAATTGATTCTCTTCTCAAACTCAGACAATGAAAGATCTA
TACCATCTCTTGTTGATGGCTTTAAACCTGGCCAGCGGAAAGTTTTATTTACCTGTTTCAAGAG
GAATGATAAACGTGAAGTAAAAGTTGCCCAGTTGGCTGGCTCTGTTGCTGAGATGTCGGCTTAT
CATCATGGAGAACAAGCATTGATGATGACTATTGTGAATTTGGCTCAGAACTTTGTGGGAAGTA
ACAACATTAACTTGCTTCAGCCTATTGGTCAGTTTGGAACTCGGCTTCATGGTGGCAAAGATGC
TGCAAGCCCTCGTTATATTTTCACAATGTTAAGCACTTTAGCAAGGCTACTTTTTCCTGCTGTG
GATGACAACCTCCTTAAGTTCCTTTATGATGATAATCAACGTGTAGAGCCTGAGTGGTATATTC
CTATAATTCCCATGGTTTTAATAAATGGTGCTGAGGGCATTGGTACTGGATGGGCTTGTAAACT
ACCCAACTATGATGCTAGGGAAATTGTGAACAATGTCAGACGAATGCTAGATGGCCTGGATCCT
CATCCCATGCTTCCAAACTACAAAAACTTTAAAGGCACGATTCAAGAACTTGGTCAAAACCAGT
ATGCAGTCAGTGGTGAAATATTTGTAGTGGACAGAAACACAGTAGAAATTACAGAGCTTCCAGT
TAGAACTTGGACACAGGTATATAAAGAACAGGTTTTAGAACCTATGCTAAATGGAACAGATAAA
ACACCAGCATTAATTTCTGATTATAAAGAATATCATACTGACACAACTGTGAAATTTGTGGTGA
AAATGACTGAAGAGAAACTAGCACAAGCAGAAGCTGCTGGACTGCATAAAGTTTTTAAACTTCA
AACTACTCTTACTTGTAATTCCATGGTACTTTTTGATCATATGGGATGTCTGAAGAAATATGAA
ACTGTGCAAGACATTCTGAAAGAATTCTTTGATTTACGATTAAGTTATTACGGTTTACGTAAGG
AGTGGCTTGTGGGAATGTTGGGAGCAGAATCTACAAAGCTTAACAATCAAGCCCGTTTCATTTT
AGAGAAGATACAAGGGAAAATTACTATAGAGAATAGGTCAAAGAAAGATTTGATTCAAATGTTA
GTCCAGAGAGGTTATGAATCTGACCCAGTGAAAGCCTGGAAAGAAGCACAAGAAAAGGCAGCAG
AAGAGGATGAAACACAAAACCAGCATGATGATAGTTCCTCCGATTCAGGAACTCCTTCAGGCCC
AGATTTTAATTATATTTTAAATATGTCTCTGTGGTCTCTTACTAAAGAAAAAGTTGAAGAACTG
ATTAAACAGAGAGATGCAAAAGGGCGAGAGGTCAATGATCTTAAAAGAAAATCTCCTTCAGATC
TTTGGAAAGAGGATTTAGCGGCATTTGTTGAAGAACTGGATAAAGTGGAATCTCAAGAACGAGA
AGATGTTCTGGCTGGAATGTCTGGAAAAGCAATTAAAGGTAAAGTTGGCAAACCTAAGGTGAAG
AAACTCCAGTTGGAAGAGACAATGCCCTCACCTTATGGCAGAAGAATAATTCCTGAAATTACAG
CTATGAAGGCAGATGCCAGCAAAAAGTTGCTGAAGAAGAAGAAGGGTGATCTTGATACTGCAGC
AGTAAAAGTGGAATTTGATGAAGAATTCAGTGGAGCACCAGTAGAAGGTGCAGGAGAAGAGGCA
TTGACTCCATCAGTTCCTATAAATAAAGGTCCCAAACCTAAGAGGGAGAAGAAGGAGCCTGGTA
CCAGAGTGAGAAAAACACCTACATCATCTGGTAAACCTAGTGCAAAGAAAGTGAAGAAACGGAA
TCCTTGGTCAGATGATGAATCCAAGTCAGAAAGTGATTTGGAAGAAACAGAACCTGTGGTTATT
CCAAGAGATTCTTTGCTTAGGAGAGCAGCAGCCGAAAGACCTAAATACACATTTGATTTCTCAG
AAGAAGAGGATGATGATGCTGATGATGATGATGATGACAATAATGATTTAGAGGAATTGAAAGT
TAAAGCATCTCCCATAACAAATGATGGGGAAGATGAATTTGTTCCTTCAGATGGGTTAGATAAA
GATGAATATACATTTTCACCAGGCAAATCAAAAGCCACTCCAGAAAAATCTTTGCATGACAAAA
AAAGTCAGGATTTTGGAAATCTCTTCTCATTTCCTTCATATTCTCAGAAGTCAGAAGATGATTC
AGCTAAATTTGACAGTAATGAAGAAGATTCTGCTTCTGTTTTTTCACCATCATTTGGTCTGAAA
CAGACAGATAAAGTTCCAAGTAAAACGGTAGCTGCTAAAAAGGGAAAACCGTCTTCAGATACAG
TCCCTAAGCCCAAGAGAGCCCCAAAACAGAAGAAAGTAGTAGAGGCTGTAAACTCTGACTCGGA
TTCAGAATTTGGCATTCCAAAGAAGACTACAACACCAAAAGGTAAAGGCCGAGGGGCAAAGAAA
AGGAAAGCATCTGGCTCTGAAAATGAAGGCGATTATAACCCTGGCAGGAAAACATCCAAAACAA
CAAGCAAGAAACCGAAGAAGACATCTTTTGATCAGGATTCAGATGTGGACATCTTCCCCTCAGA
CTTCCCTACTGAGCCACCTTCTCTGCCACGAACCGGTCGGGCTAGGAAAGAAGTAAAATATTTT
GCAGAGTCTGATGAAGAAGAAGATGATGTTGATTTTGCAATGTTTAATTAAGTGCCCAAAGAGC
ACAAACATTTTTCAACAAATATCTTGTGTTGTCCTTTTGTCTTCTCTGTCTCAGACTTTTGTAC
ATCTGGCTTATTTTAATGTGATGATGTAATTGACGGTTTTTTATTATTGTGGTAGGCCTTTTAA
CATTTTGTTCTTACACATACAGTTTTATGCTCTTTTTTACTCATTGAAATGTCACGTACTGTCT
GATTGGCTTGTAGAATTGTTATAGACTGCCGTGCATTAGCACAGATTTTAATTGTCATGGTTAC
AAACTACAGACCTGCTTTTTGAAATGAAATTTAAACATTAAAAATGGAACTGTG

hide sequence

RefSeq Acc Id:

XM_011534057 ⟹ XP_011532359

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	25,597,905 - 25,664,907 (-)	NCBI

Sequence:

show sequence

GCCGGACAAGAGGGAGGTGACCGTGGCGGCGGCGGCGGCGGCTCTGTTTATTGTCCCTCTCGGT
GTGTGTGTGTGAGGAAATCGGGGCTGCAGCGAGGCTAAGGCTGCCTTTGAAGCAGCGGCGGCGA
CCGGGACGACTACTCTGGCGACTCGAGTGGCTGGCCTTCGCGGAGTGTGAGAAGGACAAGGCAC
CTCTGCGTCCTCGCCACGTCCGAGCGCCTCGGGCTCCCCGGCCGCCCTCGCGGCTCGCACGCCC
GGGCTTCAGCCCGGCCTGCAGCGGCGCCCGCGGGCGGGCGAGAAGGCAACGCCGCCGCTCGGCC
GCCGCCGGTCGCTCCCTGCTTTCTCCTCAGCCGCCGCGCTAGGCCCGGGCGACGCGGACGCCGC
GCCTCGAGTTTGAGGGCAGCCGGCGGCGCGGCCTCCTCAGCGGGCTCGGCTGGACGTCCGCTCC
GGATCTTCGCGATGGGGCGCGGGGGTCGGCGCGGCTAGGAGTGCGGCGAGTGGAGCGGTGGGTG
CGGAGCGGCGGGGCCCAGCGGCCCGCAGGGAGGCGGGAGCGGCGGCTGCGGCCTCAGGGCCTGT
GAGCTGGAGGCACTCGCCATGGCCAAGTCGGGTGGCTGCGGCGCGGGAGCCGGCGTGGGCGGCG
GCAACGGGGCACTGACCTGGGTGACTCTTTTTGATCAGAACAATGCTGCAAAAAAAGAAGAGTC
AGAAACTGCCAACAAAAATGATTCTTCAAAGAAGTTGTCTGTTGAGAGAGTGTATCAGAAGAAG
ACACAACTTGAACACATTCTTCTTCGTCCTGATACATATATTGGGTCAGTGGAGCCATTGACGC
AGTTCATGTGGGTGTATGATGAAGATGTAGGAATGAATTGCAGGGAGGTTACCTTTGTGCCAGG
TTTATACAAGATCTTTGATGAAATTTTGGTTAATGCTGCTGACAATAAACAGAGGGATAAGAAC
ATGACTTGTATTAAAGTTTCTATTGATCCTGAATCTAACATTATAAGCATTTGGAATAATGGGA
AAGGCATTCCAGTAGTAGAACACAAGGTAGAGAAAGTTTATGTTCCTGCTTTAATTTTTGGACA
GCTTTTAACATCCAGTAACTATGATGATGATGAGAAAAAAGTTACAGGTGGTCGTAATGGTTAT
GGTGCAAAACTTTGTAATATTTTCAGTACAAAGTTTACAGTAGAAACAGCTTGCAAAGAATACA
AACACAGTTTTAAGCAGACATGGATGAATAATATGATGAAGACTTCTGAAGCCAAAATTAAACA
TTTTGATGGTGAAGATTACACATGCATAACATTCCAACCAGATCTGTCCAAATTTAAGATGGAA
AAACTTGACAAGGATATTGTGGCCCTCATGACTAGAAGGGCATATGATTTGGCTGGTTCGTGTA
GAGGGGTCAAGGTCATGTTTAATGGAAAGAAATTGCCTGTAAATGGATTTCGCAGTTATGTAGA
TCTTTATGTGAAAGACAAATTGGATGAAACTGGGGTGGCCCTGAAAGTTATTCATGAGCTTGCA
AATGAAAGATGGGATGTTTGTCTCACATTGAGTGAAAAAGGATTCCAGCAAATCAGCTTTGTAA
ATAGTATTGCAACTACAAAAGGTGGACGGCACGTGGATTATGTGGTAGATCAAGTTGTTGGTAA
ACTGATTGAAGTAGTTAAGAAAAAGAACAAAGCTGGTGTATCAGTGAAACCATTTCAAGTAAAA
AACCATATATGGGTTTTTATTAATTGCCTTATTGAAAATCCAACTTTTGATTCTCAGACTAAGG
AAAACATGACTCTGCAGCCCAAAAGTTTTGGGTCTAAATGCCAGCTGTCAGAAAAATTTTTTAA
AGCAGCCTCTAATTGTGGCATTGTAGAAAGTATCCTGAACTGGGTGAAATTTAAGGCTCAGACT
CAGCTGAATAAGAAGTGTTCATCAGTAAAATACAGTAAAATCAAAGGTATTCCCAAACTGGATG
ATGCTAATGATGCTGGTGGTAAACATTCCCTGGAGTGTACACTGATATTAACAGAGGGAGACTC
TGCCAAATCACTGGCTGTGTCTGGATTAGGTGTGATTGGACGAGACAGATACGGAGTTTTTCCA
CTCAGGGGCAAAATTCTTAATGTACGGGAAGCTTCTCATAAACAGATCATGGAAAATGCTGAAA
TAAATAATATTATTAAAATAGTTGGTCTACAATATAAGAAAAGTTACGATGATGCAGAATCTCT
GAAAACCTTACGCTATGGAAAGATTATGATTATGACCGATCAGGATCAAGATGGTTCTCACATA
AAAGGCCTGCTTATTAATTTCATCCATCACAATTGGCCATCACTTTTGAAGCATGGTTTTCTTG
AAGAGTTCATTACTCCTATTGTAAAGGCAAGCAAAAATAAGCAGGAACTTTCCTTCTACAGTAT
TCCTGAATTTGACGAATGGAAAAAACATATAGAAAACCAGAAAGCCTGGAAAATAAAGTACTAT
AAAGGATTGGGTACTAGTACAGCTAAAGAAGCAAAGGAATATTTTGCTGATATGGAAAGGCATC
GCATCTTGTTTAGATATGCTGGTCCTGAAGATGATGCTGCCATTACCTTGGCATTTAGTAAGAA
GAAGATTGATGACAGAAAAGAATGGTTAACAAATTTTATGGAAGACCGGAGACAGCGTAGGCTA
CATGGCTTACCAGAGCAATTTTTATATGGTACTGCAACAAAGCATTTGACTTATAATGATTTCA
TCAACAAGGAATTGATTCTCTTCTCAAACTCAGACAATGAAAGATCTATACCATCTCTTGTTGA
TGGCTTTAAACCTGGCCAGCGGAAAGTTTTATTTACCTGTTTCAAGAGGAATGATAAACGTGAA
GTAAAAGTTGCCCAGTTGGCTGGCTCTGTTGCTGAGATGTCGGCTTATCATCATGGAGAACAAG
CATTGATGATGACTATTGTGAATTTGGCTCAGAACTTTGTGGGAAGTAACAACATTAACTTGCT
TCAGCCTATTGGTCAGTTTGGAACTCGGCTTCATGGTGGCAAAGATGCTGCAAGCCCTCGTTAT
ATTTTCACAATGTTAAGCACTTTAGCAAGGCTACTTTTTCCTGCTGTGGATGACAACCTCCTTA
AGTTCCTTTATGATGATAATCAACGTGTAGAGCCTGAGTGGTATATTCCTATAATTCCCATGGT
TTTAATAAATGGTGCTGAGGGCATTGGTACTGGATGGGCTTGTAAACTACCCAACTATGATGCT
AGGGAAATTGTGAACAATGTCAGACGAATGCTAGATGGCCTGGATCCTCATCCCATGCTTCCAA
ACTACAAAAACTTTAAAGGCACGATTCAAGAACTTGGTCAAAACCAGTATGCAGTCAGTGGTGA
AATATTTGTAGTGGACAGAAACACAGTAGAAATTACAGAGCTTCCAGTTAGAACTTGGACACAG
GTATATAAAGAACAGGTTTTAGAACCTATGCTAAATGGAACAGATAAAACACCAGCATTAATTT
CTGATTATAAAGAATATCATACTGACACAACTGTGAAATTTGTGGTGAAAATGACTGAAGAGAA
ACTAGCACAAGCAGAAGCTGCTGGACTGCATAAAGTTTTTAAACTTCAAACTACTCTTACTTGT
AATTCCATGGTACTTTTTGATCATATGGGATGTCTGAAGAAATATGAAACTGTGCAAGACATTC
TGAAAGAATTCTTTGATTTACGATTAAGTTATTACGGTTTACGTAAGGAGTGGCTTGTGGGAAT
GTTGGGAGCAGAATCTACAAAGCTTAACAATCAAGCCCGTTTCATTTTAGAGAAGATACAAGGG
AAAATTACTATAGAGAATAGGTCAAAGAAAGATTTGATTCAAATGTTAGTCCAGAGAGGTTATG
AATCTGACCCAGTGAAAGCCTGGAAAGAAGCACAAGAAAAGGCAGCAGAAGAGGATGAAACACA
AAACCAGCATGATGATAGTTCCTCCGATTCAGGAACTCCTTCAGGCCCAGATTTTAATTATATT
TTAAATATGTCTCTGTGGTCTCTTACTAAAGAAAAAGTTGAAGAACTGATTAAACAGAGAGATG
CAAAAGGGCGAGAGGTCAATGATCTTAAAAGAAAATCTCCTTCAGATCTTTGGAAAGAGGATTT
AGCGGCATTTGTTGAAGAACTGGATAAAGTGGAATCTCAAGAACGAGAAGATGTTCTGGCTGGA
ATGTCTGGAAAAGCAATTAAAGGTAAAGTTGGCAAACCTAAGGTGAAGAAACTCCAGTTGGAAG
AGACAATGCCCTCACCTTATGGCAGAAGAATAATTCCTGAAATTACAGCTATGAAGGCAGATGC
CAGCAAAAAGTTGCTGAAGAAGAAGAAGGGTGATCTTGATACTGCAGCAGTAAAAGTGGAATTT
GATGAAGAATTCAGTGGAGCACCAGTAGAAGGTGCAGGAGAAGAGGCATTGACTCCATCAGTTC
CTATAAATAAAGGTCCCAAACCTAAGAGGGAGAAGAAGGAGCCTGGTACCAGAGTGAGAAAAAC
ACCTACATCATCTGGTAAACCTAGTGCAAAGAAAGTGAAGAAACGGAATCCTTGGTCAGATGAT
GAATCCAAGTCAGAAAGTGATTTGGAAGAAACAGAACCTGTGGTTATTCCAAGAGATTCTTTGC
TTAGGAGAGCAGCAGCCGAAAGACCTAAATACACATTTGATTTCTCAGAAGAAGAGGATGATGA
TGCTGATGATGATGATGATGACAATAATGATTTAGAGGAATTGAAAGTTAAAGCATCTCCCATA
ACAAATGATGGGGAAGATGAATTTGTTCCTTCAGATGGGTTAGATAAAGATGAATATACATTTT
CACCAGGCAAATCAAAAGCCACTCCAGAAAAATCTTTGCATGACAAAAAAAGTCAGGATTTTGG
AAATCTCTTCTCATTTCCTTCATATTCTCAGAAGTCAGAAGATGGAAAACCGTCTTCAGATACA
GTCCCTAAGCCCAAGAGAGCCCCAAAACAGAAGAAAGTAGTAGAGGCTGTAAACTCTGACTCGG
ATTCAGAATTTGGCATTCCAAAGAAGACTACAACACCAAAAGGTAAAGGCCGAGGGGCAAAGAA
AAGGAAAGCATCTGGCTCTGAAAATGAAGGCGATTATAACCCTGGCAGGAAAACATCCAAAACA
ACAAGCAAGAAACCGAAGAAGACATCTTTTGATCAGGATTCAGATGTGGACATCTTCCCCTCAG
ACTTCCCTACTGAGCCACCTTCTCTGCCACGAACCGGTCGGGCTAGGAAAGAAGTAAAATATTT
TGCAGAGTCTGATGAAGAAGAAGATGATGTTGATTTTGCAATGTTTAATTAAGTGCCCAAAGAG
CACAAACATTTTTCAACAAATATCTTGTGTTGTCCTTTTGTCTTCTCTGTCTCAGACTTTTGTA
CATCTGGCTTATTTTAATGTGATGATGTAATTGACGGTTTTTTATTATTGTGGTAGGCCTTTTA
ACATTTTGTTCTTACACATACAGTTTTATGCTCTTTTTTACTCATTGAAATGTCACGTACTGTC
TGATTGGCTTGTAGAATTGTTATAGACTGCCGTGCATTAGCACAGATTTTAATTGTCATGGTTA
CAAACTACAGACCTGCTTTTTGAAATGAAATTTAAACATTAAAAATGGAACTGTG

hide sequence

RefSeq Acc Id:

XM_047448821 ⟹ XP_047304777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	25,597,905 - 25,664,907 (-)	NCBI

RefSeq Acc Id:

XM_047448822 ⟹ XP_047304778

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	25,615,460 - 25,664,907 (-)	NCBI

RefSeq Acc Id:

XM_054347708 ⟹ XP_054203683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	25,600,752 - 25,667,754 (-)	NCBI

RefSeq Acc Id:

XM_054347709 ⟹ XP_054203684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	25,600,752 - 25,667,754 (-)	NCBI

RefSeq Acc Id:

XM_054347710 ⟹ XP_054203685

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	25,618,307 - 25,667,754 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001059	(Get FASTA)	NCBI Sequence Viewer
	NP_001317629	(Get FASTA)	NCBI Sequence Viewer
	XP_011532359	(Get FASTA)	NCBI Sequence Viewer
	XP_047304777	(Get FASTA)	NCBI Sequence Viewer
	XP_047304778	(Get FASTA)	NCBI Sequence Viewer
	XP_054203683	(Get FASTA)	NCBI Sequence Viewer
	XP_054203684	(Get FASTA)	NCBI Sequence Viewer
	XP_054203685	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA61210	(Get FASTA)	NCBI Sequence Viewer
	AAB01982	(Get FASTA)	NCBI Sequence Viewer
	AAB54121	(Get FASTA)	NCBI Sequence Viewer
	AAB95437	(Get FASTA)	NCBI Sequence Viewer
	AAC77432	(Get FASTA)	NCBI Sequence Viewer
	AAH21863	(Get FASTA)	NCBI Sequence Viewer
	BAD92116	(Get FASTA)	NCBI Sequence Viewer
	BAG59142	(Get FASTA)	NCBI Sequence Viewer
	BAG59664	(Get FASTA)	NCBI Sequence Viewer
	BAH14863	(Get FASTA)	NCBI Sequence Viewer
	CAA09753	(Get FASTA)	NCBI Sequence Viewer
	CAA37706	(Get FASTA)	NCBI Sequence Viewer
	CAA48197	(Get FASTA)	NCBI Sequence Viewer
	CAA50726	(Get FASTA)	NCBI Sequence Viewer
	CAA78815	(Get FASTA)	NCBI Sequence Viewer
	CAA78821	(Get FASTA)	NCBI Sequence Viewer
	CCQ43061	(Get FASTA)	NCBI Sequence Viewer
	EAW64357	(Get FASTA)	NCBI Sequence Viewer
	EAW64358	(Get FASTA)	NCBI Sequence Viewer
	EAW64359	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000264331
	ENSP00000264331.4
	ENSP00000388216.1
	ENSP00000391112
	ENSP00000391112.1
	ENSP00000396704
	ENSP00000396704.2
	ENSP00000514096.1
	ENSP00000514097.1
	ENSP00000514098
	ENSP00000514098.1
GenBank Protein	Q02880	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001059 ⟸ NM_001068
- Peptide Label:	isoform 2
- UniProtKB:	Q71UH4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKSGGCGAGAGVGGGNGALTWVNNAAKKEESETANKNDSSKKLSVERVYQKKTQLEHILLRPD TYIGSVEPLTQFMWVYDEDVGMNCREVTFVPGLYKIFDEILVNAADNKQRDKNMTCIKVSIDPE SNIISIWNNGKGIPVVEHKVEKVYVPALIFGQLLTSSNYDDDEKKVTGGRNGYGAKLCNIFSTK FTVETACKEYKHSFKQTWMNNMMKTSEAKIKHFDGEDYTCITFQPDLSKFKMEKLDKDIVALMT RRAYDLAGSCRGVKVMFNGKKLPVNGFRSYVDLYVKDKLDETGVALKVIHELANERWDVCLTLS EKGFQQISFVNSIATTKGGRHVDYVVDQVVGKLIEVVKKKNKAGVSVKPFQVKNHIWVFINCLI ENPTFDSQTKENMTLQPKSFGSKCQLSEKFFKAASNCGIVESILNWVKFKAQTQLNKKCSSVKY SKIKGIPKLDDANDAGGKHSLECTLILTEGDSAKSLAVSGLGVIGRDRYGVFPLRGKILNVREA SHKQIMENAEINNIIKIVGLQYKKSYDDAESLKTLRYGKIMIMTDQDQDGSHIKGLLINFIHHN WPSLLKHGFLEEFITPIVKASKNKQELSFYSIPEFDEWKKHIENQKAWKIKYYKGLGTSTAKEA KEYFADMERHRILFRYAGPEDDAAITLAFSKKKIDDRKEWLTNFMEDRRQRRLHGLPEQFLYGT ATKHLTYNDFINKELILFSNSDNERSIPSLVDGFKPGQRKVLFTCFKRNDKREVKVAQLAGSVA EMSAYHHGEQALMMTIVNLAQNFVGSNNINLLQPIGQFGTRLHGGKDAASPRYIFTMLSTLARL LFPAVDDNLLKFLYDDNQRVEPEWYIPIIPMVLINGAEGIGTGWACKLPNYDAREIVNNVRRML DGLDPHPMLPNYKNFKGTIQELGQNQYAVSGEIFVVDRNTVEITELPVRTWTQVYKEQVLEPML NGTDKTPALISDYKEYHTDTTVKFVVKMTEEKLAQAEAAGLHKVFKLQTTLTCNSMVLFDHMGC LKKYETVQDILKEFFDLRLSYYGLRKEWLVGMLGAESTKLNNQARFILEKIQGKITIENRSKKD LIQMLVQRGYESDPVKAWKEAQEKAAEEDETQNQHDDSSSDSGTPSGPDFNYILNMSLWSLTKE KVEELIKQRDAKGREVNDLKRKSPSDLWKEDLAAFVEELDKVESQEREDVLAGMSGKAIKGKVG KPKVKKLQLEETMPSPYGRRIIPEITAMKADASKKLLKKKKGDLDTAAVKVEFDEEFSGAPVEG AGEEALTPSVPINKGPKPKREKKEPGTRVRKTPTSSGKPSAKKVKKRNPWSDDESKSESDLEET EPVVIPRDSLLRRAAAERPKYTFDFSEEEDDDADDDDDDNNDLEELKVKASPITNDGEDEFVPS DGLDKDEYTFSPGKSKATPEKSLHDKKSQDFGNLFSFPSYSQKSEDDSAKFDSNEEDSASVFSP SFGLKQTDKVPSKTVAAKKGKPSSDTVPKPKRAPKQKKVVEAVNSDSDSEFGIPKKTTTPKGKG RGAKKRKASGSENEGDYNPGRKTSKTTSKKPKKTSFDQDSDVDIFPSDFPTEPPSLPRTGRARK EVKYFAESDEEEDDVDFAMFN hide sequence

RefSeq Acc Id:	XP_011532359 ⟸ XM_011534057
- Peptide Label:	isoform X1
- UniProtKB:	Q71UH4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKSGGCGAGAGVGGGNGALTWVTLFDQNNAAKKEESETANKNDSSKKLSVERVYQKKTQLEHI LLRPDTYIGSVEPLTQFMWVYDEDVGMNCREVTFVPGLYKIFDEILVNAADNKQRDKNMTCIKV SIDPESNIISIWNNGKGIPVVEHKVEKVYVPALIFGQLLTSSNYDDDEKKVTGGRNGYGAKLCN IFSTKFTVETACKEYKHSFKQTWMNNMMKTSEAKIKHFDGEDYTCITFQPDLSKFKMEKLDKDI VALMTRRAYDLAGSCRGVKVMFNGKKLPVNGFRSYVDLYVKDKLDETGVALKVIHELANERWDV CLTLSEKGFQQISFVNSIATTKGGRHVDYVVDQVVGKLIEVVKKKNKAGVSVKPFQVKNHIWVF INCLIENPTFDSQTKENMTLQPKSFGSKCQLSEKFFKAASNCGIVESILNWVKFKAQTQLNKKC SSVKYSKIKGIPKLDDANDAGGKHSLECTLILTEGDSAKSLAVSGLGVIGRDRYGVFPLRGKIL NVREASHKQIMENAEINNIIKIVGLQYKKSYDDAESLKTLRYGKIMIMTDQDQDGSHIKGLLIN FIHHNWPSLLKHGFLEEFITPIVKASKNKQELSFYSIPEFDEWKKHIENQKAWKIKYYKGLGTS TAKEAKEYFADMERHRILFRYAGPEDDAAITLAFSKKKIDDRKEWLTNFMEDRRQRRLHGLPEQ FLYGTATKHLTYNDFINKELILFSNSDNERSIPSLVDGFKPGQRKVLFTCFKRNDKREVKVAQL AGSVAEMSAYHHGEQALMMTIVNLAQNFVGSNNINLLQPIGQFGTRLHGGKDAASPRYIFTMLS TLARLLFPAVDDNLLKFLYDDNQRVEPEWYIPIIPMVLINGAEGIGTGWACKLPNYDAREIVNN VRRMLDGLDPHPMLPNYKNFKGTIQELGQNQYAVSGEIFVVDRNTVEITELPVRTWTQVYKEQV LEPMLNGTDKTPALISDYKEYHTDTTVKFVVKMTEEKLAQAEAAGLHKVFKLQTTLTCNSMVLF DHMGCLKKYETVQDILKEFFDLRLSYYGLRKEWLVGMLGAESTKLNNQARFILEKIQGKITIEN RSKKDLIQMLVQRGYESDPVKAWKEAQEKAAEEDETQNQHDDSSSDSGTPSGPDFNYILNMSLW SLTKEKVEELIKQRDAKGREVNDLKRKSPSDLWKEDLAAFVEELDKVESQEREDVLAGMSGKAI KGKVGKPKVKKLQLEETMPSPYGRRIIPEITAMKADASKKLLKKKKGDLDTAAVKVEFDEEFSG APVEGAGEEALTPSVPINKGPKPKREKKEPGTRVRKTPTSSGKPSAKKVKKRNPWSDDESKSES DLEETEPVVIPRDSLLRRAAAERPKYTFDFSEEEDDDADDDDDDNNDLEELKVKASPITNDGED EFVPSDGLDKDEYTFSPGKSKATPEKSLHDKKSQDFGNLFSFPSYSQKSEDGKPSSDTVPKPKR APKQKKVVEAVNSDSDSEFGIPKKTTTPKGKGRGAKKRKASGSENEGDYNPGRKTSKTTSKKPK KTSFDQDSDVDIFPSDFPTEPPSLPRTGRARKEVKYFAESDEEEDDVDFAMFN hide sequence

RefSeq Acc Id:	NP_001317629 ⟸ NM_001330700
- Peptide Label:	isoform 1
- UniProtKB:	Q9UMG8 (UniProtKB/Swiss-Prot), Q13600 (UniProtKB/Swiss-Prot), Q9UQP8 (UniProtKB/Swiss-Prot), Q02880 (UniProtKB/Swiss-Prot), Q71UH4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKSGGCGAGAGVGGGNGALTWVTLFDQNNAAKKEESETANKNDSSKKLSVERVYQKKTQLEHI LLRPDTYIGSVEPLTQFMWVYDEDVGMNCREVTFVPGLYKIFDEILVNAADNKQRDKNMTCIKV SIDPESNIISIWNNGKGIPVVEHKVEKVYVPALIFGQLLTSSNYDDDEKKVTGGRNGYGAKLCN IFSTKFTVETACKEYKHSFKQTWMNNMMKTSEAKIKHFDGEDYTCITFQPDLSKFKMEKLDKDI VALMTRRAYDLAGSCRGVKVMFNGKKLPVNGFRSYVDLYVKDKLDETGVALKVIHELANERWDV CLTLSEKGFQQISFVNSIATTKGGRHVDYVVDQVVGKLIEVVKKKNKAGVSVKPFQVKNHIWVF INCLIENPTFDSQTKENMTLQPKSFGSKCQLSEKFFKAASNCGIVESILNWVKFKAQTQLNKKC SSVKYSKIKGIPKLDDANDAGGKHSLECTLILTEGDSAKSLAVSGLGVIGRDRYGVFPLRGKIL NVREASHKQIMENAEINNIIKIVGLQYKKSYDDAESLKTLRYGKIMIMTDQDQDGSHIKGLLIN FIHHNWPSLLKHGFLEEFITPIVKASKNKQELSFYSIPEFDEWKKHIENQKAWKIKYYKGLGTS TAKEAKEYFADMERHRILFRYAGPEDDAAITLAFSKKKIDDRKEWLTNFMEDRRQRRLHGLPEQ FLYGTATKHLTYNDFINKELILFSNSDNERSIPSLVDGFKPGQRKVLFTCFKRNDKREVKVAQL AGSVAEMSAYHHGEQALMMTIVNLAQNFVGSNNINLLQPIGQFGTRLHGGKDAASPRYIFTMLS TLARLLFPAVDDNLLKFLYDDNQRVEPEWYIPIIPMVLINGAEGIGTGWACKLPNYDAREIVNN VRRMLDGLDPHPMLPNYKNFKGTIQELGQNQYAVSGEIFVVDRNTVEITELPVRTWTQVYKEQV LEPMLNGTDKTPALISDYKEYHTDTTVKFVVKMTEEKLAQAEAAGLHKVFKLQTTLTCNSMVLF DHMGCLKKYETVQDILKEFFDLRLSYYGLRKEWLVGMLGAESTKLNNQARFILEKIQGKITIEN RSKKDLIQMLVQRGYESDPVKAWKEAQEKAAEEDETQNQHDDSSSDSGTPSGPDFNYILNMSLW SLTKEKVEELIKQRDAKGREVNDLKRKSPSDLWKEDLAAFVEELDKVESQEREDVLAGMSGKAI KGKVGKPKVKKLQLEETMPSPYGRRIIPEITAMKADASKKLLKKKKGDLDTAAVKVEFDEEFSG APVEGAGEEALTPSVPINKGPKPKREKKEPGTRVRKTPTSSGKPSAKKVKKRNPWSDDESKSES DLEETEPVVIPRDSLLRRAAAERPKYTFDFSEEEDDDADDDDDDNNDLEELKVKASPITNDGED EFVPSDGLDKDEYTFSPGKSKATPEKSLHDKKSQDFGNLFSFPSYSQKSEDDSAKFDSNEEDSA SVFSPSFGLKQTDKVPSKTVAAKKGKPSSDTVPKPKRAPKQKKVVEAVNSDSDSEFGIPKKTTT PKGKGRGAKKRKASGSENEGDYNPGRKTSKTTSKKPKKTSFDQDSDVDIFPSDFPTEPPSLPRT GRARKEVKYFAESDEEEDDVDFAMFN hide sequence

Ensembl Acc Id:

ENSP00000391112 ⟸ ENST00000424225

Ensembl Acc Id:

ENSP00000388216 ⟸ ENST00000413971

Ensembl Acc Id:

ENSP00000264331 ⟸ ENST00000264331

Ensembl Acc Id:

ENSP00000396704 ⟸ ENST00000435706

RefSeq Acc Id:	XP_047304777 ⟸ XM_047448821
- Peptide Label:	isoform X2
- UniProtKB:	Q71UH4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047304778 ⟸ XM_047448822
- Peptide Label:	isoform X3
- UniProtKB:	E9PCY5 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000514097 ⟸ ENST00000699038

Ensembl Acc Id:

ENSP00000514096 ⟸ ENST00000699037

Ensembl Acc Id:

ENSP00000514098 ⟸ ENST00000699043

RefSeq Acc Id:	XP_054203684 ⟸ XM_054347709
- Peptide Label:	isoform X2
- UniProtKB:	Q71UH4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054203683 ⟸ XM_054347708
- Peptide Label:	isoform X1
- UniProtKB:	Q71UH4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054203685 ⟸ XM_054347710
- Peptide Label:	isoform X3
- UniProtKB:	E9PCY5 (UniProtKB/TrEMBL)

Protein Domains

DNA topoisomerase type IIA Topo IIA-type catalytic Toprim

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q02880-F1-model_v2	AlphaFold	Q02880	1-1626	view protein structure

Promoters

RGD ID:

6863826

Promoter ID:

EPDNEW_H5076

Type:

initiation region

Name:

TOP2B_1

Description:

topoisomerase II beta

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	25,664,907 - 25,664,967	EPDNEW

RGD ID:

6801815

Promoter ID:

HG_KWN:44100

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000264331, OTTHUMT00000340821, OTTHUMT00000340822, OTTHUMT00000340824

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	25,680,806 - 25,681,557 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11990	AgrOrtholog
COSMIC	TOP2B	COSMIC
Ensembl Genes	ENSG00000077097	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000264331	ENTREZGENE
	ENST00000264331.9	UniProtKB/Swiss-Prot
	ENST00000413971.5	UniProtKB/TrEMBL
	ENST00000424225	ENTREZGENE
	ENST00000424225.1	UniProtKB/TrEMBL
	ENST00000435706	ENTREZGENE
	ENST00000435706.6	UniProtKB/Swiss-Prot
	ENST00000699037.1	UniProtKB/TrEMBL
	ENST00000699038.1	UniProtKB/TrEMBL
	ENST00000699043	ENTREZGENE
	ENST00000699043.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.268.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.1360.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.1490.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.230.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.565.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.40.50.670	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.90.199.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000077097	GTEx
HGNC ID	HGNC:11990	ENTREZGENE
Human Proteome Map	TOP2B	Human Proteome Map
InterPro	DNA_Topoisomerase_II	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DTHCT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ribosomal_S5_D2-typ_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ribosomal_S5_D2-typ_fold_subgr	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA_A/C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA_A/C_ab	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA_A_a_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA_B_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Topo_IIA_bsu_dom2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TopoII_euk	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TopoIIA_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TOPRIM_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TOPRIM_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TOPRIM_TopoII	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7155	UniProtKB/Swiss-Prot
NCBI Gene	7155	ENTREZGENE
OMIM	126431	OMIM
PANTHER	DNA TOPOISOMERASE/GYRASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR10169:SF36	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DNA_gyraseB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DNA_topoisoIV	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DTHCT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Toprim	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TOPRIM_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36672	PharmGKB, RGD
PRINTS	TOPISMRASEII	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPI2FAMILY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	TOPO_IIA	UniProtKB/Swiss-Prot
	TOPOISOMERASE_II	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TOPRIM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	TOP2c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TOP4c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF54211	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF55874	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF56719	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8V8TN33_HUMAN	UniProtKB/TrEMBL
	A0A8V8TP20_HUMAN	UniProtKB/TrEMBL
	A0A8V8TPE3_HUMAN	UniProtKB/TrEMBL
	E9PCY5	ENTREZGENE, UniProtKB/TrEMBL
	H7BZ82_HUMAN	UniProtKB/TrEMBL
	L8E8K5_HUMAN	UniProtKB/TrEMBL
	Q02880	ENTREZGENE
	Q13600	ENTREZGENE
	Q59H80_HUMAN	UniProtKB/TrEMBL
	Q71UH4	ENTREZGENE, UniProtKB/TrEMBL
	Q9UMG8	ENTREZGENE
	Q9UQP8	ENTREZGENE
	TOP2B_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q13600	UniProtKB/Swiss-Prot
	Q9UMG8	UniProtKB/Swiss-Prot
	Q9UQP8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-08-08	TOP2B	DNA topoisomerase II beta	TOP2B	topoisomerase (DNA) II beta	Symbol and/or name change	5135510	APPROVED
2015-08-11	TOP2B	topoisomerase (DNA) II beta	TOP2B	topoisomerase (DNA) II beta 180kDa	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Human Phenotype Annotations - ClinVar