KIF20A (kinesin family member 20A) - Rat Genome Database

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Gene: KIF20A (kinesin family member 20A) Homo sapiens
Analyze
Symbol: KIF20A
Name: kinesin family member 20A
RGD ID: 1317032
HGNC Page HGNC:9787
Description: Enables protein kinase binding activity. Involved in microtubule bundle formation; midbody abscission; and regulation of cytokinesis. Located in several cellular components, including intercellular bridge; midbody; and spindle. Implicated in restrictive cardiomyopathy.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ21151; GG10_2; kinesin-like protein KIF20A; mitotic kinesin-like protein 2; MKLP2; RAB6 interacting, kinesin-like (rabkinesin6); rab6-interacting kinesin-like protein; RAB6KIFL; rabkinesin-6; RCM6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385138,179,112 - 138,187,723 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5138,178,719 - 138,187,723 (+)EnsemblGRCh38hg38GRCh38
GRCh375137,514,801 - 137,523,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365137,542,784 - 137,551,261 (+)NCBINCBI36Build 36hg18NCBI36
Build 345137,543,247 - 137,551,259NCBI
Celera5133,635,706 - 133,644,693 (+)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5132,705,415 - 132,714,402 (+)NCBIHuRef
CHM1_15136,947,040 - 136,956,027 (+)NCBICHM1_1
T2T-CHM13v2.05138,705,404 - 138,714,015 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-palmitoylglycerol  (EXP)
3,4-dichloroaniline  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
adenine  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antimycin A  (EXP)
arsenite(3-)  (EXP,ISO)
azathioprine  (EXP)
azoxystrobin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (EXP,ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
diallyl trisulfide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (EXP,ISO)
dichloroacetic acid  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diuron  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenpyroximate  (EXP)
fipronil  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gamma-tocopherol  (ISO)
genistein  (EXP)
hydrogen peroxide  (EXP)
hydroxyurea  (EXP)
indole-3-methanol  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
lucanthone  (EXP)
mercaptopurine  (ISO)
methamphetamine  (EXP,ISO)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
mitomycin C  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
niclosamide  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
purine-6-thiol  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tocopherol  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
zaragozic acid A  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9438855   PMID:10233894   PMID:10806357   PMID:10893188   PMID:11060022   PMID:11071909   PMID:11076863   PMID:11416179   PMID:12469216   PMID:12477932   PMID:12939256   PMID:15263015  
PMID:15489334   PMID:15489336   PMID:15665285   PMID:15843429   PMID:16381901   PMID:16431929   PMID:16473624   PMID:16565220   PMID:17081983   PMID:19303298   PMID:20360068   PMID:21516116  
PMID:21873635   PMID:21988832   PMID:22854760   PMID:22887948   PMID:23750214   PMID:24457600   PMID:24656812   PMID:25184681   PMID:25281560   PMID:25416956   PMID:25476789   PMID:25499221  
PMID:25515538   PMID:25953216   PMID:25961928   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26766443   PMID:26831064   PMID:26986935   PMID:27036048   PMID:27248496  
PMID:27609421   PMID:27634302   PMID:27939310   PMID:27941992   PMID:28070829   PMID:28081138   PMID:28514442   PMID:28630147   PMID:28826477   PMID:29093437   PMID:29357359   PMID:29467282  
PMID:29490077   PMID:29500859   PMID:29507755   PMID:29509190   PMID:29513927   PMID:29704495   PMID:29749467   PMID:30006548   PMID:30021884   PMID:30105795   PMID:30182171   PMID:30804502  
PMID:30979931   PMID:31091453   PMID:31093305   PMID:31239290   PMID:31515488   PMID:31545253   PMID:31565944   PMID:31586073   PMID:31753913   PMID:31841120   PMID:32356865   PMID:32467984  
PMID:32502404   PMID:32771525   PMID:32807901   PMID:33232285   PMID:33397691   PMID:33660365   PMID:33686165   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34244565   PMID:34491228  
PMID:34831298   PMID:35013556   PMID:35271311   PMID:35418689   PMID:35439318   PMID:35563538   PMID:35638575   PMID:35844135   PMID:36037925   PMID:36089195   PMID:36114006   PMID:36168628  
PMID:36215168   PMID:36232890   PMID:36424410   PMID:36543142   PMID:36637953   PMID:36763221   PMID:37248320   PMID:37499664   PMID:37827155  


Genomics

Comparative Map Data
KIF20A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385138,179,112 - 138,187,723 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5138,178,719 - 138,187,723 (+)EnsemblGRCh38hg38GRCh38
GRCh375137,514,801 - 137,523,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365137,542,784 - 137,551,261 (+)NCBINCBI36Build 36hg18NCBI36
Build 345137,543,247 - 137,551,259NCBI
Celera5133,635,706 - 133,644,693 (+)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5132,705,415 - 132,714,402 (+)NCBIHuRef
CHM1_15136,947,040 - 136,956,027 (+)NCBICHM1_1
T2T-CHM13v2.05138,705,404 - 138,714,015 (+)NCBIT2T-CHM13v2.0
Kif20a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391834,757,677 - 34,766,330 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1834,757,666 - 34,766,330 (+)EnsemblGRCm39 Ensembl
GRCm381834,624,624 - 34,633,277 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1834,624,613 - 34,633,277 (+)EnsemblGRCm38mm10GRCm38
MGSCv371834,784,278 - 34,792,931 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361834,749,796 - 34,758,078 (+)NCBIMGSCv36mm8
Celera1835,077,037 - 35,085,702 (+)NCBICelera
Cytogenetic Map18B1NCBI
cM Map1818.69NCBI
Kif20a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81826,504,422 - 26,512,908 (+)NCBIGRCr8
mRatBN7.21826,230,294 - 26,238,780 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1826,230,230 - 26,238,780 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1826,357,675 - 26,366,161 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01827,121,481 - 27,129,979 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01826,456,388 - 26,464,886 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01827,424,328 - 27,432,814 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1827,424,328 - 27,432,814 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01827,137,685 - 27,146,171 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41827,100,044 - 27,108,530 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11827,126,319 - 27,135,178 (+)NCBI
Celera1825,967,936 - 25,976,422 (+)NCBICelera
Cytogenetic Map18p12NCBI
Kif20a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554182,222,398 - 2,232,775 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554182,222,398 - 2,232,775 (-)NCBIChiLan1.0ChiLan1.0
KIF20A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24133,452,429 - 133,461,478 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15131,591,982 - 131,601,019 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05133,557,456 - 133,566,089 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15139,690,512 - 139,699,446 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5139,690,517 - 139,699,446 (+)Ensemblpanpan1.1panPan2
KIF20A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11125,826,140 - 25,834,220 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1125,825,747 - 25,833,985 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1124,592,059 - 24,604,038 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01126,678,590 - 26,690,572 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1126,679,487 - 26,690,569 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11125,385,711 - 25,397,687 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01125,208,292 - 25,220,262 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01125,872,755 - 25,884,735 (+)NCBIUU_Cfam_GSD_1.0
Kif20a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213154,240,161 - 154,249,493 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365317,361,928 - 7,374,789 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365317,361,928 - 7,371,397 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIF20A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2140,202,015 - 140,211,155 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12140,202,316 - 140,213,144 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22145,901,017 - 145,910,033 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KIF20A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12340,848,762 - 40,857,685 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2340,849,108 - 40,857,434 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603437,032,588 - 37,041,180 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kif20a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474330,995,526 - 31,011,396 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474330,994,664 - 31,003,858 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KIF20A
293 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 copy number loss See cases [RCV000052114] Chr5:133401565..138437038 [GRCh38]
Chr5:132737257..137772727 [GRCh37]
Chr5:132765156..137800626 [NCBI36]
Chr5:5q31.1-31.2
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3 copy number gain See cases [RCV000135679] Chr5:138179894..139039890 [GRCh38]
Chr5:137515583..138375579 [GRCh37]
Chr5:137543482..138403478 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_005733.3(KIF20A):c.2321C>G (p.Ala774Gly) single nucleotide variant Inborn genetic diseases [RCV003277487] Chr5:138186397 [GRCh38]
Chr5:137522086 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2492G>C (p.Gly831Ala) single nucleotide variant Inborn genetic diseases [RCV003263306] Chr5:138187232 [GRCh38]
Chr5:137522921 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_005733.3(KIF20A):c.801C>T (p.Ile267=) single nucleotide variant not provided [RCV000915673] Chr5:138182959 [GRCh38]
Chr5:137518648 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.892C>T (p.Arg298Cys) single nucleotide variant Inborn genetic diseases [RCV003250926] Chr5:138183228 [GRCh38]
Chr5:137518917 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2193C>T (p.Asp731=) single nucleotide variant not provided [RCV000887867] Chr5:138186028 [GRCh38]
Chr5:137521717 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.187G>A (p.Glu63Lys) single nucleotide variant not provided [RCV000879581] Chr5:138181443 [GRCh38]
Chr5:137517132 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.131C>T (p.Ser44Phe) single nucleotide variant not provided [RCV000956918] Chr5:138179811 [GRCh38]
Chr5:137515500 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2026C>T (p.Arg676Trp) single nucleotide variant not provided [RCV003106549] Chr5:138185611 [GRCh38]
Chr5:137521300 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.166-13G>T single nucleotide variant not provided [RCV001907545] Chr5:138181409 [GRCh38]
Chr5:137517098 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_005733.3(KIF20A):c.544C>T (p.Arg182Trp) single nucleotide variant Cardiomyopathy, familial restrictive, 6 [RCV001535815] Chr5:138182615 [GRCh38]
Chr5:137518304 [GRCh37]
Chr5:5q31.2
pathogenic
GRCh37/hg19 5q31.2(chr5:136409875-137739167) copy number loss Microcephaly [RCV001352638] Chr5:136409875..137739167 [GRCh37]
Chr5:5q31.2
pathogenic
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_005733.3(KIF20A):c.1909del (p.Tyr637fs) deletion Cardiomyopathy, familial restrictive, 6 [RCV001535816] Chr5:138185176 [GRCh38]
Chr5:137520865 [GRCh37]
Chr5:5q31.2
pathogenic
NM_005733.3(KIF20A):c.2611C>A (p.Arg871=) single nucleotide variant not provided [RCV002025213] Chr5:138187351 [GRCh38]
Chr5:137523040 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_005733.3(KIF20A):c.2024G>A (p.Arg675Gln) single nucleotide variant not provided [RCV002025008] Chr5:138185609 [GRCh38]
Chr5:137521298 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.845G>A (p.Arg282Gln) single nucleotide variant not provided [RCV002025565] Chr5:138183181 [GRCh38]
Chr5:137518870 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1615G>C (p.Ala539Pro) single nucleotide variant not provided [RCV002045333] Chr5:138184608 [GRCh38]
Chr5:137520297 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.572T>C (p.Leu191Pro) single nucleotide variant not provided [RCV001971555] Chr5:138182643 [GRCh38]
Chr5:137518332 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1943T>C (p.Ile648Thr) single nucleotide variant not provided [RCV002008782] Chr5:138185528 [GRCh38]
Chr5:137521217 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.881C>T (p.Pro294Leu) single nucleotide variant Inborn genetic diseases [RCV003264253]|not provided [RCV001928340] Chr5:138183217 [GRCh38]
Chr5:137518906 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1300C>G (p.Leu434Val) single nucleotide variant not provided [RCV001949956] Chr5:138184053 [GRCh38]
Chr5:137519742 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2626C>T (p.Arg876Trp) single nucleotide variant not provided [RCV002008831] Chr5:138187366 [GRCh38]
Chr5:137523055 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1207G>A (p.Glu403Lys) single nucleotide variant Inborn genetic diseases [RCV002552852]|not provided [RCV001890627] Chr5:138183755 [GRCh38]
Chr5:137519444 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1088G>A (p.Arg363His) single nucleotide variant not provided [RCV002023855] Chr5:138183530 [GRCh38]
Chr5:137519219 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2132A>G (p.His711Arg) single nucleotide variant not provided [RCV002042008] Chr5:138185967 [GRCh38]
Chr5:137521656 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.743A>T (p.Glu248Val) single nucleotide variant not provided [RCV002006338] Chr5:138182901 [GRCh38]
Chr5:137518590 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1710G>A (p.Met570Ile) single nucleotide variant Inborn genetic diseases [RCV002556399]|not provided [RCV001945336] Chr5:138184833 [GRCh38]
Chr5:137520522 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.989G>A (p.Arg330Gln) single nucleotide variant not provided [RCV002039622] Chr5:138183325 [GRCh38]
Chr5:137519014 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.897C>G (p.Phe299Leu) single nucleotide variant not provided [RCV002006065] Chr5:138183233 [GRCh38]
Chr5:137518922 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1306A>G (p.Thr436Ala) single nucleotide variant not provided [RCV002008139] Chr5:138184059 [GRCh38]
Chr5:137519748 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1450G>A (p.Val484Met) single nucleotide variant Inborn genetic diseases [RCV002553581]|not provided [RCV001889638] Chr5:138184336 [GRCh38]
Chr5:137520025 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.106C>T (p.Arg36Cys) single nucleotide variant not provided [RCV002006748] Chr5:138179786 [GRCh38]
Chr5:137515475 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1800G>C (p.Met600Ile) single nucleotide variant Inborn genetic diseases [RCV002553456]|not provided [RCV001892576] Chr5:138184923 [GRCh38]
Chr5:137520612 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.691G>A (p.Gly231Ser) single nucleotide variant not provided [RCV001895432] Chr5:138182762 [GRCh38]
Chr5:137518451 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.971G>A (p.Arg324His) single nucleotide variant not provided [RCV001948678] Chr5:138183307 [GRCh38]
Chr5:137518996 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1930C>T (p.Arg644Trp) single nucleotide variant not provided [RCV002024210] Chr5:138185515 [GRCh38]
Chr5:137521204 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.748C>T (p.Arg250Trp) single nucleotide variant not provided [RCV002041102] Chr5:138182906 [GRCh38]
Chr5:137518595 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1537A>G (p.Met513Val) single nucleotide variant not provided [RCV002003324] Chr5:138184530 [GRCh38]
Chr5:137520219 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.703-2A>G single nucleotide variant not provided [RCV001947135] Chr5:138182859 [GRCh38]
Chr5:137518548 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1518G>A (p.Gln506=) single nucleotide variant not provided [RCV002005881] Chr5:138184404 [GRCh38]
Chr5:137520093 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639) copy number loss not specified [RCV002053530] Chr5:132031902..137623639 [GRCh37]
Chr5:5q31.1-31.2
pathogenic
NM_005733.3(KIF20A):c.2624C>A (p.Ser875Ter) single nucleotide variant not provided [RCV001909953] Chr5:138187364 [GRCh38]
Chr5:137523053 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1399G>A (p.Val467Met) single nucleotide variant not provided [RCV002006850] Chr5:138184285 [GRCh38]
Chr5:137519974 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1829A>G (p.His610Arg) single nucleotide variant not provided [RCV001872251] Chr5:138185100 [GRCh38]
Chr5:137520789 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_005733.3(KIF20A):c.1448A>G (p.Asn483Ser) single nucleotide variant not provided [RCV001940360] Chr5:138184334 [GRCh38]
Chr5:137520023 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.598G>C (p.Asp200His) single nucleotide variant not provided [RCV001942800] Chr5:138182669 [GRCh38]
Chr5:137518358 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2355+1G>T single nucleotide variant not provided [RCV002036516] Chr5:138186432 [GRCh38]
Chr5:137522121 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2065C>T (p.Leu689Phe) single nucleotide variant not provided [RCV002016994] Chr5:138185650 [GRCh38]
Chr5:137521339 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1931G>A (p.Arg644Gln) single nucleotide variant not provided [RCV001886153] Chr5:138185516 [GRCh38]
Chr5:137521205 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1240C>T (p.Arg414Cys) single nucleotide variant not provided [RCV001942876] Chr5:138183993 [GRCh38]
Chr5:137519682 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2095T>C (p.Cys699Arg) single nucleotide variant not provided [RCV001917237] Chr5:138185680 [GRCh38]
Chr5:137521369 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1526A>G (p.His509Arg) single nucleotide variant not provided [RCV001977581] Chr5:138184519 [GRCh38]
Chr5:137520208 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.706G>A (p.Glu236Lys) single nucleotide variant Inborn genetic diseases [RCV002554237]|not provided [RCV001887517] Chr5:138182864 [GRCh38]
Chr5:137518553 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1525C>T (p.His509Tyr) single nucleotide variant not provided [RCV001973583] Chr5:138184518 [GRCh38]
Chr5:137520207 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.951A>C (p.Leu317Phe) single nucleotide variant not provided [RCV002013935] Chr5:138183287 [GRCh38]
Chr5:137518976 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.266G>A (p.Arg89His) single nucleotide variant not provided [RCV001942618] Chr5:138181619 [GRCh38]
Chr5:137517308 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1926+4A>G single nucleotide variant not provided [RCV001994932] Chr5:138185201 [GRCh38]
Chr5:137520890 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1565C>T (p.Ser522Leu) single nucleotide variant not provided [RCV001973934] Chr5:138184558 [GRCh38]
Chr5:137520247 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1729G>A (p.Glu577Lys) single nucleotide variant Inborn genetic diseases [RCV003365530]|not provided [RCV001917946] Chr5:138184852 [GRCh38]
Chr5:137520541 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.997G>A (p.Glu333Lys) single nucleotide variant not provided [RCV001934034] Chr5:138183333 [GRCh38]
Chr5:137519022 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002026201] Chr5:138179681 [GRCh38]
Chr5:137515370 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.341T>C (p.Ile114Thr) single nucleotide variant not provided [RCV002027510] Chr5:138181694 [GRCh38]
Chr5:137517383 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1562A>G (p.His521Arg) single nucleotide variant not provided [RCV001931755] Chr5:138184555 [GRCh38]
Chr5:137520244 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1904G>T (p.Ser635Ile) single nucleotide variant not provided [RCV002013662] Chr5:138185175 [GRCh38]
Chr5:137520864 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2251C>T (p.Leu751Phe) single nucleotide variant Inborn genetic diseases [RCV002554228]|not provided [RCV001919949] Chr5:138186327 [GRCh38]
Chr5:137522016 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1469C>A (p.Thr490Asn) single nucleotide variant not provided [RCV002031910] Chr5:138184355 [GRCh38]
Chr5:137520044 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.915C>A (p.Phe305Leu) single nucleotide variant not provided [RCV001930812] Chr5:138183251 [GRCh38]
Chr5:137518940 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2542C>G (p.Pro848Ala) single nucleotide variant not provided [RCV001917591] Chr5:138187282 [GRCh38]
Chr5:137522971 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1718T>G (p.Leu573Arg) single nucleotide variant not provided [RCV001905143] Chr5:138184841 [GRCh38]
Chr5:137520530 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1571T>C (p.Ile524Thr) single nucleotide variant not provided [RCV001940805] Chr5:138184564 [GRCh38]
Chr5:137520253 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1800G>A (p.Met600Ile) single nucleotide variant not provided [RCV001867369] Chr5:138184923 [GRCh38]
Chr5:137520612 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1136G>A (p.Arg379His) single nucleotide variant not provided [RCV001974166] Chr5:138183578 [GRCh38]
Chr5:137519267 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2041G>A (p.Ala681Thr) single nucleotide variant not provided [RCV001952005] Chr5:138185626 [GRCh38]
Chr5:137521315 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1559T>C (p.Leu520Pro) single nucleotide variant not provided [RCV002048401] Chr5:138184552 [GRCh38]
Chr5:137520241 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1598C>T (p.Pro533Leu) single nucleotide variant Inborn genetic diseases [RCV003348574]|not provided [RCV001905915] Chr5:138184591 [GRCh38]
Chr5:137520280 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1258A>C (p.Ser420Arg) single nucleotide variant not provided [RCV001902259] Chr5:138184011 [GRCh38]
Chr5:137519700 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1412dup (p.Phe472fs) duplication not provided [RCV001994170] Chr5:138184295..138184296 [GRCh38]
Chr5:137519984..137519985 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.439G>A (p.Asp147Asn) single nucleotide variant not provided [RCV001939905] Chr5:138182386 [GRCh38]
Chr5:137518075 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2612G>A (p.Arg871Gln) single nucleotide variant not provided [RCV002026102] Chr5:138187352 [GRCh38]
Chr5:137523041 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2305G>A (p.Gly769Arg) single nucleotide variant not provided [RCV001930344] Chr5:138186381 [GRCh38]
Chr5:137522070 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1810G>A (p.Glu604Lys) single nucleotide variant not provided [RCV001955011] Chr5:138184933 [GRCh38]
Chr5:137520622 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.23C>T (p.Pro8Leu) single nucleotide variant not provided [RCV001931809] Chr5:138179703 [GRCh38]
Chr5:137515392 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2219A>C (p.Asn740Thr) single nucleotide variant not provided [RCV001979777] Chr5:138186295 [GRCh38]
Chr5:137521984 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.334C>G (p.Arg112Gly) single nucleotide variant not provided [RCV001875602] Chr5:138181687 [GRCh38]
Chr5:137517376 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2314C>T (p.Arg772Cys) single nucleotide variant not provided [RCV001881940] Chr5:138186390 [GRCh38]
Chr5:137522079 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1522G>A (p.Val508Met) single nucleotide variant not provided [RCV002034145] Chr5:138184515 [GRCh38]
Chr5:137520204 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2299G>A (p.Gly767Arg) single nucleotide variant not provided [RCV001867108] Chr5:138186375 [GRCh38]
Chr5:137522064 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1337A>C (p.Gln446Pro) single nucleotide variant not provided [RCV002017703] Chr5:138184090 [GRCh38]
Chr5:137519779 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.472A>T (p.Thr158Ser) single nucleotide variant not provided [RCV001931012] Chr5:138182419 [GRCh38]
Chr5:137518108 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1991C>T (p.Ala664Val) single nucleotide variant not provided [RCV001995350] Chr5:138185576 [GRCh38]
Chr5:137521265 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.335G>A (p.Arg112Gln) single nucleotide variant not provided [RCV001959606] Chr5:138181688 [GRCh38]
Chr5:137517377 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2567G>A (p.Arg856Gln) single nucleotide variant not provided [RCV002031458] Chr5:138187307 [GRCh38]
Chr5:137522996 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.703-3C>A single nucleotide variant not provided [RCV001976743] Chr5:138182858 [GRCh38]
Chr5:137518547 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1186G>A (p.Asp396Asn) single nucleotide variant not provided [RCV001915875] Chr5:138183734 [GRCh38]
Chr5:137519423 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2183T>C (p.Ile728Thr) single nucleotide variant Inborn genetic diseases [RCV002552752]|not provided [RCV001879233] Chr5:138186018 [GRCh38]
Chr5:137521707 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_005733.3(KIF20A):c.702+2dup duplication not provided [RCV001881638] Chr5:138182774..138182775 [GRCh38]
Chr5:137518463..137518464 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1577A>T (p.Glu526Val) single nucleotide variant not provided [RCV002027718] Chr5:138184570 [GRCh38]
Chr5:137520259 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1781A>G (p.Asn594Ser) single nucleotide variant not provided [RCV001991378] Chr5:138184904 [GRCh38]
Chr5:137520593 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2479A>C (p.Lys827Gln) single nucleotide variant not provided [RCV002092467] Chr5:138187219 [GRCh38]
Chr5:137522908 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.2379G>A (p.Gln793=) single nucleotide variant not provided [RCV002105542] Chr5:138187119 [GRCh38]
Chr5:137522808 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1139+13dup duplication not provided [RCV002168094] Chr5:138183593..138183594 [GRCh38]
Chr5:137519282..137519283 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.2516C>T (p.Pro839Leu) single nucleotide variant not provided [RCV002127468] Chr5:138187256 [GRCh38]
Chr5:137522945 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.832+9C>T single nucleotide variant not provided [RCV002072423] Chr5:138182999 [GRCh38]
Chr5:137518688 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2125+14C>A single nucleotide variant not provided [RCV002205470] Chr5:138185724 [GRCh38]
Chr5:137521413 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1926+9C>T single nucleotide variant not provided [RCV002089966] Chr5:138185206 [GRCh38]
Chr5:137520895 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.420T>C (p.Thr140=) single nucleotide variant not provided [RCV002091241] Chr5:138182367 [GRCh38]
Chr5:137518056 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2217+11C>T single nucleotide variant not provided [RCV002111449] Chr5:138186063 [GRCh38]
Chr5:137521752 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.948A>G (p.Leu316=) single nucleotide variant not provided [RCV002206405] Chr5:138183284 [GRCh38]
Chr5:137518973 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2218-19C>T single nucleotide variant not provided [RCV002191491] Chr5:138186275 [GRCh38]
Chr5:137521964 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.832+17G>A single nucleotide variant not provided [RCV002124398] Chr5:138183007 [GRCh38]
Chr5:137518696 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1140-4C>T single nucleotide variant not provided [RCV002084927] Chr5:138183684 [GRCh38]
Chr5:137519373 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.24G>A (p.Pro8=) single nucleotide variant not provided [RCV002071220] Chr5:138179704 [GRCh38]
Chr5:137515393 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.1519-6dup duplication not provided [RCV002186448] Chr5:138184503..138184504 [GRCh38]
Chr5:137520192..137520193 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2133T>C (p.His711=) single nucleotide variant not provided [RCV002186573] Chr5:138185968 [GRCh38]
Chr5:137521657 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1519-15T>A single nucleotide variant not provided [RCV002134986] Chr5:138184497 [GRCh38]
Chr5:137520186 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1352+19T>C single nucleotide variant not provided [RCV002212865] Chr5:138184124 [GRCh38]
Chr5:137519813 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2125+14_2125+15del deletion not provided [RCV002153077] Chr5:138185723..138185724 [GRCh38]
Chr5:137521412..137521413 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.702+3A>G single nucleotide variant not provided [RCV002116096] Chr5:138182776 [GRCh38]
Chr5:137518465 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.24G>C (p.Pro8=) single nucleotide variant not provided [RCV002113377] Chr5:138179704 [GRCh38]
Chr5:137515393 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.2322C>T (p.Ala774=) single nucleotide variant not provided [RCV002185388] Chr5:138186398 [GRCh38]
Chr5:137522087 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1824-10_1824-5del deletion not provided [RCV002117344] Chr5:138185081..138185086 [GRCh38]
Chr5:137520770..137520775 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1926+18A>G single nucleotide variant not provided [RCV002085237] Chr5:138185215 [GRCh38]
Chr5:137520904 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2052C>T (p.Ala684=) single nucleotide variant not provided [RCV002115090] Chr5:138185637 [GRCh38]
Chr5:137521326 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.1904G>C (p.Ser635Thr) single nucleotide variant not provided [RCV002206353] Chr5:138185175 [GRCh38]
Chr5:137520864 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1027+11dup duplication not provided [RCV002192854] Chr5:138183373..138183374 [GRCh38]
Chr5:137519062..137519063 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1139+12G>T single nucleotide variant not provided [RCV002133753] Chr5:138183593 [GRCh38]
Chr5:137519282 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.833-13G>C single nucleotide variant not provided [RCV002173624] Chr5:138183156 [GRCh38]
Chr5:137518845 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.514+19C>T single nucleotide variant not provided [RCV002149274] Chr5:138182480 [GRCh38]
Chr5:137518169 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.265C>T (p.Arg89Cys) single nucleotide variant not provided [RCV002093372] Chr5:138181618 [GRCh38]
Chr5:137517307 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.515-17C>T single nucleotide variant not provided [RCV002077096] Chr5:138182569 [GRCh38]
Chr5:137518258 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1926+19G>A single nucleotide variant not provided [RCV002193765] Chr5:138185216 [GRCh38]
Chr5:137520905 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.405C>T (p.Ser135=) single nucleotide variant not provided [RCV002134489] Chr5:138182352 [GRCh38]
Chr5:137518041 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.351C>T (p.Ala117=) single nucleotide variant not provided [RCV002152442] Chr5:138181704 [GRCh38]
Chr5:137517393 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1027+11A>G single nucleotide variant not provided [RCV002128345] Chr5:138183374 [GRCh38]
Chr5:137519063 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2126-11C>T single nucleotide variant not provided [RCV002150862] Chr5:138185950 [GRCh38]
Chr5:137521639 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2356-15A>C single nucleotide variant not provided [RCV002152121] Chr5:138187081 [GRCh38]
Chr5:137522770 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.6G>T (p.Ser2=) single nucleotide variant not provided [RCV002099034] Chr5:138179686 [GRCh38]
Chr5:137515375 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.312T>G (p.Ser104=) single nucleotide variant not provided [RCV002159113] Chr5:138181665 [GRCh38]
Chr5:137517354 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.1683+14A>C single nucleotide variant not provided [RCV002180445] Chr5:138184690 [GRCh38]
Chr5:137520379 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1290T>C (p.Ile430=) single nucleotide variant not provided [RCV002175634] Chr5:138184043 [GRCh38]
Chr5:137519732 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2218-16A>G single nucleotide variant not provided [RCV002143123] Chr5:138186278 [GRCh38]
Chr5:137521967 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1140-13T>C single nucleotide variant not provided [RCV002143427] Chr5:138183675 [GRCh38]
Chr5:137519364 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.792C>A (p.Leu264=) single nucleotide variant not provided [RCV002198607] Chr5:138182950 [GRCh38]
Chr5:137518639 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1967A>G (p.Gln656Arg) single nucleotide variant not provided [RCV002143732] Chr5:138185552 [GRCh38]
Chr5:137521241 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.832+10G>A single nucleotide variant not provided [RCV002164278] Chr5:138183000 [GRCh38]
Chr5:137518689 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2355+15T>C single nucleotide variant not provided [RCV002155619] Chr5:138186446 [GRCh38]
Chr5:137522135 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.255+6dup duplication not provided [RCV002204388] Chr5:138181516..138181517 [GRCh38]
Chr5:137517205..137517206 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2149T>C (p.Leu717=) single nucleotide variant not provided [RCV002140477] Chr5:138185984 [GRCh38]
Chr5:137521673 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.882G>A (p.Pro294=) single nucleotide variant not provided [RCV002103411] Chr5:138183218 [GRCh38]
Chr5:137518907 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.1449T>C (p.Asn483=) single nucleotide variant not provided [RCV002159168] Chr5:138184335 [GRCh38]
Chr5:137520024 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1566G>A (p.Ser522=) single nucleotide variant not provided [RCV002200188] Chr5:138184559 [GRCh38]
Chr5:137520248 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1140-18_1140-15del deletion not provided [RCV002118618] Chr5:138183667..138183670 [GRCh38]
Chr5:137519356..137519359 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1155A>C (p.Ser385=) single nucleotide variant not provided [RCV002102955] Chr5:138183703 [GRCh38]
Chr5:137519392 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1208+20A>T single nucleotide variant not provided [RCV002201305] Chr5:138183776 [GRCh38]
Chr5:137519465 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1519-16T>A single nucleotide variant not provided [RCV002121664] Chr5:138184496 [GRCh38]
Chr5:137520185 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.376-16C>T single nucleotide variant not provided [RCV002181647] Chr5:138182307 [GRCh38]
Chr5:137517996 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.996C>T (p.Cys332=) single nucleotide variant not provided [RCV002084394] Chr5:138183332 [GRCh38]
Chr5:137519021 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.1927-19C>T single nucleotide variant not provided [RCV002163185] Chr5:138185493 [GRCh38]
Chr5:137521182 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1139+9A>T single nucleotide variant not provided [RCV003112493] Chr5:138183590 [GRCh38]
Chr5:137519279 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1240C>A (p.Arg414Ser) single nucleotide variant Inborn genetic diseases [RCV003250833]|not provided [RCV003112494] Chr5:138183993 [GRCh38]
Chr5:137519682 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_137515370)_(137523102_?)del deletion not provided [RCV003116424] Chr5:137515370..137523102 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NC_000005.9:g.(?_136957787)_(138861289_?)del deletion STING-associated vasculopathy with onset in infancy [RCV003113978] Chr5:136957787..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2411G>A (p.Arg804Gln) single nucleotide variant not provided [RCV003118911] Chr5:138187151 [GRCh38]
Chr5:137522840 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1400T>C (p.Val467Ala) single nucleotide variant Inborn genetic diseases [RCV003276430] Chr5:138184286 [GRCh38]
Chr5:137519975 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1319G>A (p.Cys440Tyr) single nucleotide variant Inborn genetic diseases [RCV003295815] Chr5:138184072 [GRCh38]
Chr5:137519761 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.376-14G>T single nucleotide variant not provided [RCV002750152] Chr5:138182309 [GRCh38]
Chr5:137517998 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2094G>A (p.Gln698=) single nucleotide variant not provided [RCV002614126] Chr5:138185679 [GRCh38]
Chr5:137521368 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1035C>A (p.Asn345Lys) single nucleotide variant Inborn genetic diseases [RCV002905604] Chr5:138183477 [GRCh38]
Chr5:137519166 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2657T>C (p.Phe886Ser) single nucleotide variant not provided [RCV002685744] Chr5:138187397 [GRCh38]
Chr5:137523086 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1610A>T (p.Lys537Ile) single nucleotide variant not provided [RCV003012044] Chr5:138184603 [GRCh38]
Chr5:137520292 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1519-14T>C single nucleotide variant not provided [RCV002775962] Chr5:138184498 [GRCh38]
Chr5:137520187 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.366C>T (p.Thr122=) single nucleotide variant not provided [RCV002685421] Chr5:138181719 [GRCh38]
Chr5:137517408 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1576G>A (p.Glu526Lys) single nucleotide variant not provided [RCV002991660] Chr5:138184569 [GRCh38]
Chr5:137520258 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2563C>A (p.Pro855Thr) single nucleotide variant Inborn genetic diseases [RCV003365772]|not provided [RCV002681223] Chr5:138187303 [GRCh38]
Chr5:137522992 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.863C>T (p.Thr288Ile) single nucleotide variant not provided [RCV002975400] Chr5:138183199 [GRCh38]
Chr5:137518888 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.716C>A (p.Thr239Asn) single nucleotide variant not provided [RCV002996003] Chr5:138182874 [GRCh38]
Chr5:137518563 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.241C>T (p.Arg81Ter) single nucleotide variant not provided [RCV002795085] Chr5:138181497 [GRCh38]
Chr5:137517186 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2281G>A (p.Ala761Thr) single nucleotide variant not provided [RCV002991526] Chr5:138186357 [GRCh38]
Chr5:137522046 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1135C>T (p.Arg379Cys) single nucleotide variant Inborn genetic diseases [RCV002793759] Chr5:138183577 [GRCh38]
Chr5:137519266 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2027G>A (p.Arg676Gln) single nucleotide variant not provided [RCV002972534] Chr5:138185612 [GRCh38]
Chr5:137521301 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.222G>C (p.Leu74Phe) single nucleotide variant not provided [RCV002863351] Chr5:138181478 [GRCh38]
Chr5:137517167 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1927-9C>G single nucleotide variant not provided [RCV003014229] Chr5:138185503 [GRCh38]
Chr5:137521192 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1670T>C (p.Met557Thr) single nucleotide variant not provided [RCV002730116] Chr5:138184663 [GRCh38]
Chr5:137520352 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1028-19C>T single nucleotide variant not provided [RCV002685924] Chr5:138183451 [GRCh38]
Chr5:137519140 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1156A>G (p.Ile386Val) single nucleotide variant Inborn genetic diseases [RCV002689634] Chr5:138183704 [GRCh38]
Chr5:137519393 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.514+20G>A single nucleotide variant not provided [RCV002618422] Chr5:138182481 [GRCh38]
Chr5:137518170 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.653G>A (p.Arg218Gln) single nucleotide variant Inborn genetic diseases [RCV003375688]|not provided [RCV002756250] Chr5:138182724 [GRCh38]
Chr5:137518413 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.787G>A (p.Gly263Arg) single nucleotide variant not provided [RCV002880316] Chr5:138182945 [GRCh38]
Chr5:137518634 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.874C>A (p.Pro292Thr) single nucleotide variant not provided [RCV002617389] Chr5:138183210 [GRCh38]
Chr5:137518899 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.697C>G (p.Gln233Glu) single nucleotide variant not provided [RCV002663071] Chr5:138182768 [GRCh38]
Chr5:137518457 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.957G>T (p.Pro319=) single nucleotide variant not provided [RCV003021462] Chr5:138183293 [GRCh38]
Chr5:137518982 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1945G>A (p.Glu649Lys) single nucleotide variant not provided [RCV002639534] Chr5:138185530 [GRCh38]
Chr5:137521219 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1019A>G (p.Tyr340Cys) single nucleotide variant not provided [RCV002889815] Chr5:138183355 [GRCh38]
Chr5:137519044 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1262G>A (p.Gly421Asp) single nucleotide variant not provided [RCV002740168] Chr5:138184015 [GRCh38]
Chr5:137519704 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.400G>C (p.Ala134Pro) single nucleotide variant not provided [RCV003038820] Chr5:138182347 [GRCh38]
Chr5:137518036 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1519-9dup duplication not provided [RCV002781084] Chr5:138184495..138184496 [GRCh38]
Chr5:137520184..137520185 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.284C>T (p.Thr95Ile) single nucleotide variant not provided [RCV002949202] Chr5:138181637 [GRCh38]
Chr5:137517326 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.716C>T (p.Thr239Ile) single nucleotide variant not provided [RCV003100430] Chr5:138182874 [GRCh38]
Chr5:137518563 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.652C>T (p.Arg218Ter) single nucleotide variant not provided [RCV002637005] Chr5:138182723 [GRCh38]
Chr5:137518412 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1810G>C (p.Glu604Gln) single nucleotide variant Inborn genetic diseases [RCV002868449] Chr5:138184933 [GRCh38]
Chr5:137520622 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.946C>T (p.Leu316=) single nucleotide variant not provided [RCV002846781] Chr5:138183282 [GRCh38]
Chr5:137518971 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1519-19del deletion not provided [RCV002590440] Chr5:138184493 [GRCh38]
Chr5:137520182 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1808G>A (p.Arg603Gln) single nucleotide variant not provided [RCV002592006] Chr5:138184931 [GRCh38]
Chr5:137520620 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.256-18T>A single nucleotide variant not provided [RCV002621121] Chr5:138181591 [GRCh38]
Chr5:137517280 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.375+1G>C single nucleotide variant not provided [RCV003021006] Chr5:138181729 [GRCh38]
Chr5:137517418 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1179G>A (p.Gly393=) single nucleotide variant not provided [RCV002913567] Chr5:138183727 [GRCh38]
Chr5:137519416 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.142A>G (p.Thr48Ala) single nucleotide variant Inborn genetic diseases [RCV002799443] Chr5:138179822 [GRCh38]
Chr5:137515511 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1862T>C (p.Met621Thr) single nucleotide variant not provided [RCV003036285] Chr5:138185133 [GRCh38]
Chr5:137520822 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.168T>C (p.Val56=) single nucleotide variant not provided [RCV002736483] Chr5:138181424 [GRCh38]
Chr5:137517113 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.90T>G (p.Asp30Glu) single nucleotide variant not provided [RCV002662380] Chr5:138179770 [GRCh38]
Chr5:137515459 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.988C>T (p.Arg330Trp) single nucleotide variant not provided [RCV002659581] Chr5:138183324 [GRCh38]
Chr5:137519013 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.398A>G (p.Gln133Arg) single nucleotide variant not provided [RCV003053787] Chr5:138182345 [GRCh38]
Chr5:137518034 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.995G>A (p.Cys332Tyr) single nucleotide variant Inborn genetic diseases [RCV002888813] Chr5:138183331 [GRCh38]
Chr5:137519020 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1893G>C (p.Glu631Asp) single nucleotide variant not provided [RCV002909445] Chr5:138185164 [GRCh38]
Chr5:137520853 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1836C>T (p.Asp612=) single nucleotide variant not provided [RCV003053599] Chr5:138185107 [GRCh38]
Chr5:137520796 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.957G>A (p.Pro319=) single nucleotide variant not provided [RCV002923743] Chr5:138183293 [GRCh38]
Chr5:137518982 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2401C>G (p.Leu801Val) single nucleotide variant Inborn genetic diseases [RCV002646213]|not provided [RCV002662498] Chr5:138187141 [GRCh38]
Chr5:137522830 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.242G>A (p.Arg81Gln) single nucleotide variant not provided [RCV002953253] Chr5:138181498 [GRCh38]
Chr5:137517187 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1178G>C (p.Gly393Ala) single nucleotide variant not provided [RCV002885060] Chr5:138183726 [GRCh38]
Chr5:137519415 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1209-6T>G single nucleotide variant not provided [RCV002927497] Chr5:138183956 [GRCh38]
Chr5:137519645 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2070G>C (p.Gln690His) single nucleotide variant not provided [RCV002760788] Chr5:138185655 [GRCh38]
Chr5:137521344 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2127G>A (p.Glu709=) single nucleotide variant not provided [RCV002574171] Chr5:138185962 [GRCh38]
Chr5:137521651 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1028-4C>T single nucleotide variant not provided [RCV003007666] Chr5:138183466 [GRCh38]
Chr5:137519155 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2551C>T (p.Arg851Ter) single nucleotide variant not provided [RCV002596807] Chr5:138187291 [GRCh38]
Chr5:137522980 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.141T>C (p.Ser47=) single nucleotide variant not provided [RCV002959081] Chr5:138179821 [GRCh38]
Chr5:137515510 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.330T>C (p.Asn110=) single nucleotide variant not provided [RCV002805915] Chr5:138181683 [GRCh38]
Chr5:137517372 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2218-12C>T single nucleotide variant not provided [RCV003042769] Chr5:138186282 [GRCh38]
Chr5:137521971 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1823+17C>T single nucleotide variant not provided [RCV002663373] Chr5:138184963 [GRCh38]
Chr5:137520652 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.702+9T>C single nucleotide variant not provided [RCV002664038] Chr5:138182782 [GRCh38]
Chr5:137518471 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1927-12C>T single nucleotide variant not provided [RCV003022909] Chr5:138185500 [GRCh38]
Chr5:137521189 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2645A>C (p.Lys882Thr) single nucleotide variant not provided [RCV002643857] Chr5:138187385 [GRCh38]
Chr5:137523074 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.893G>A (p.Arg298His) single nucleotide variant Inborn genetic diseases [RCV002764835] Chr5:138183229 [GRCh38]
Chr5:137518918 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.255+1G>A single nucleotide variant not provided [RCV002710691] Chr5:138181512 [GRCh38]
Chr5:137517201 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2630G>A (p.Arg877His) single nucleotide variant not provided [RCV002765670] Chr5:138187370 [GRCh38]
Chr5:137523059 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2056A>C (p.Thr686Pro) single nucleotide variant not provided [RCV002700319] Chr5:138185641 [GRCh38]
Chr5:137521330 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.813CAG[1] (p.Ser274del) microsatellite not provided [RCV002917709] Chr5:138182971..138182973 [GRCh38]
Chr5:137518660..137518662 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2355+14A>G single nucleotide variant not provided [RCV002800839] Chr5:138186445 [GRCh38]
Chr5:137522134 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1683+15A>G single nucleotide variant not provided [RCV002572268] Chr5:138184691 [GRCh38]
Chr5:137520380 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1243T>C (p.Cys415Arg) single nucleotide variant not provided [RCV002642415] Chr5:138183996 [GRCh38]
Chr5:137519685 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.893G>C (p.Arg298Pro) single nucleotide variant not provided [RCV002643404] Chr5:138183229 [GRCh38]
Chr5:137518918 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.169C>G (p.Pro57Ala) single nucleotide variant not provided [RCV003057954] Chr5:138181425 [GRCh38]
Chr5:137517114 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.689G>A (p.Gly230Glu) single nucleotide variant Inborn genetic diseases [RCV002826765] Chr5:138182760 [GRCh38]
Chr5:137518449 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.546G>A (p.Arg182=) single nucleotide variant not provided [RCV002745399] Chr5:138182617 [GRCh38]
Chr5:137518306 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1823+17C>A single nucleotide variant not provided [RCV002710886] Chr5:138184963 [GRCh38]
Chr5:137520652 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2161C>T (p.Pro721Ser) single nucleotide variant Inborn genetic diseases [RCV002788643] Chr5:138185996 [GRCh38]
Chr5:137521685 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2307A>T (p.Gly769=) single nucleotide variant not provided [RCV002700140] Chr5:138186383 [GRCh38]
Chr5:137522072 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1596C>T (p.Ser532=) single nucleotide variant not provided [RCV002958436] Chr5:138184589 [GRCh38]
Chr5:137520278 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.385C>T (p.Pro129Ser) single nucleotide variant not provided [RCV003084734] Chr5:138182332 [GRCh38]
Chr5:137518021 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1079A>T (p.Lys360Ile) single nucleotide variant Inborn genetic diseases [RCV002850335] Chr5:138183521 [GRCh38]
Chr5:137519210 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.166-17C>G single nucleotide variant not provided [RCV003057704] Chr5:138181405 [GRCh38]
Chr5:137517094 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.742G>A (p.Glu248Lys) single nucleotide variant Inborn genetic diseases [RCV003274127]|not provided [RCV003007152] Chr5:138182900 [GRCh38]
Chr5:137518589 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2430T>G (p.Ile810Met) single nucleotide variant not provided [RCV003040158] Chr5:138187170 [GRCh38]
Chr5:137522859 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.593C>T (p.Thr198Ile) single nucleotide variant not provided [RCV002601668] Chr5:138182664 [GRCh38]
Chr5:137518353 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2607T>C (p.Tyr869=) single nucleotide variant not provided [RCV002715527] Chr5:138187347 [GRCh38]
Chr5:137523036 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1860_1861del (p.Glu620fs) deletion not provided [RCV002716881] Chr5:138185130..138185131 [GRCh38]
Chr5:137520819..137520820 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1352+16T>C single nucleotide variant not provided [RCV002715056] Chr5:138184121 [GRCh38]
Chr5:137519810 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2132A>C (p.His711Pro) single nucleotide variant not provided [RCV002721205] Chr5:138185967 [GRCh38]
Chr5:137521656 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.690A>T (p.Gly230=) single nucleotide variant not provided [RCV003048588] Chr5:138182761 [GRCh38]
Chr5:137518450 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1430G>A (p.Arg477His) single nucleotide variant not provided [RCV002576762] Chr5:138184316 [GRCh38]
Chr5:137520005 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1551C>T (p.Phe517=) single nucleotide variant not provided [RCV002877099] Chr5:138184544 [GRCh38]
Chr5:137520233 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1633C>G (p.Leu545Val) single nucleotide variant not provided [RCV003060609] Chr5:138184626 [GRCh38]
Chr5:137520315 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2620C>T (p.Arg874Cys) single nucleotide variant not provided [RCV003062939] Chr5:138187360 [GRCh38]
Chr5:137523049 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.376-16C>A single nucleotide variant not provided [RCV002630757] Chr5:138182307 [GRCh38]
Chr5:137517996 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1027+7G>T single nucleotide variant not provided [RCV003027005] Chr5:138183370 [GRCh38]
Chr5:137519059 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2566C>T (p.Arg856Ter) single nucleotide variant not provided [RCV002646089] Chr5:138187306 [GRCh38]
Chr5:137522995 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.286C>T (p.Leu96Phe) single nucleotide variant not provided [RCV002646577] Chr5:138181639 [GRCh38]
Chr5:137517328 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1206C>T (p.Ser402=) single nucleotide variant not provided [RCV003009331] Chr5:138183754 [GRCh38]
Chr5:137519443 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.165+13G>A single nucleotide variant not provided [RCV002632005] Chr5:138179858 [GRCh38]
Chr5:137515547 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1684-7C>G single nucleotide variant not provided [RCV003030089] Chr5:138184800 [GRCh38]
Chr5:137520489 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.442G>A (p.Val148Ile) single nucleotide variant not provided [RCV002671397] Chr5:138182389 [GRCh38]
Chr5:137518078 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2148G>A (p.Met716Ile) single nucleotide variant not provided [RCV003028365] Chr5:138185983 [GRCh38]
Chr5:137521672 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.792C>G (p.Leu264=) single nucleotide variant not provided [RCV003030481] Chr5:138182950 [GRCh38]
Chr5:137518639 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.506C>T (p.Thr169Met) single nucleotide variant not provided [RCV002649763] Chr5:138182453 [GRCh38]
Chr5:137518142 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1900A>C (p.Thr634Pro) single nucleotide variant not provided [RCV002580969] Chr5:138185171 [GRCh38]
Chr5:137520860 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2026C>A (p.Arg676=) single nucleotide variant not provided [RCV002877375] Chr5:138185611 [GRCh38]
Chr5:137521300 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1131C>T (p.Ser377=) single nucleotide variant not provided [RCV002832780] Chr5:138183573 [GRCh38]
Chr5:137519262 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.566A>G (p.Asn189Ser) single nucleotide variant Inborn genetic diseases [RCV002988308] Chr5:138182637 [GRCh38]
Chr5:137518326 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.377T>A (p.Ile126Asn) single nucleotide variant Inborn genetic diseases [RCV002770938]|not provided [RCV002770937] Chr5:138182324 [GRCh38]
Chr5:137518013 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2627G>A (p.Arg876Gln) single nucleotide variant not provided [RCV002900069] Chr5:138187367 [GRCh38]
Chr5:137523056 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1115A>G (p.His372Arg) single nucleotide variant not provided [RCV002720525] Chr5:138183557 [GRCh38]
Chr5:137519246 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1985_1988del (p.Ser662fs) microsatellite not provided [RCV002811710] Chr5:138185566..138185569 [GRCh38]
Chr5:137521255..137521258 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.856C>A (p.Pro286Thr) single nucleotide variant not provided [RCV002856420] Chr5:138183192 [GRCh38]
Chr5:137518881 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1823+10G>C single nucleotide variant not provided [RCV002672121] Chr5:138184956 [GRCh38]
Chr5:137520645 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1823+17C>G single nucleotide variant not provided [RCV002671741] Chr5:138184963 [GRCh38]
Chr5:137520652 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.255+12A>G single nucleotide variant not provided [RCV002810196] Chr5:138181523 [GRCh38]
Chr5:137517212 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.644A>G (p.Lys215Arg) single nucleotide variant not provided [RCV002597845] Chr5:138182715 [GRCh38]
Chr5:137518404 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.373C>A (p.Gln125Lys) single nucleotide variant not provided [RCV003087279] Chr5:138181726 [GRCh38]
Chr5:137517415 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1220G>A (p.Cys407Tyr) single nucleotide variant not provided [RCV002857510] Chr5:138183973 [GRCh38]
Chr5:137519662 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2245C>G (p.Gln749Glu) single nucleotide variant not provided [RCV002582314] Chr5:138186321 [GRCh38]
Chr5:137522010 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1996C>T (p.Gln666Ter) single nucleotide variant not provided [RCV002653088] Chr5:138185581 [GRCh38]
Chr5:137521270 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2426G>T (p.Cys809Phe) single nucleotide variant not provided [RCV002942540] Chr5:138187166 [GRCh38]
Chr5:137522855 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1334G>A (p.Arg445His) single nucleotide variant not provided [RCV002725625] Chr5:138184087 [GRCh38]
Chr5:137519776 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2126-3C>T single nucleotide variant not provided [RCV002603434] Chr5:138185958 [GRCh38]
Chr5:137521647 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1823+5T>C single nucleotide variant not provided [RCV002635691] Chr5:138184951 [GRCh38]
Chr5:137520640 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1208+11_1208+14del deletion not provided [RCV002635103] Chr5:138183765..138183768 [GRCh38]
Chr5:137519454..137519457 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.828G>A (p.Leu276=) single nucleotide variant not provided [RCV002633913] Chr5:138182986 [GRCh38]
Chr5:137518675 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2238A>G (p.Thr746=) single nucleotide variant not provided [RCV002634666] Chr5:138186314 [GRCh38]
Chr5:137522003 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2561T>A (p.Leu854His) single nucleotide variant Inborn genetic diseases [RCV002655077] Chr5:138187301 [GRCh38]
Chr5:137522990 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1824-2A>C single nucleotide variant not provided [RCV002657958] Chr5:138185093 [GRCh38]
Chr5:137520782 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.726G>C (p.Lys242Asn) single nucleotide variant not provided [RCV002583052] Chr5:138182884 [GRCh38]
Chr5:137518573 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2356-6C>T single nucleotide variant not provided [RCV002608648] Chr5:138187090 [GRCh38]
Chr5:137522779 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.702+7C>T single nucleotide variant not provided [RCV002590223] Chr5:138182780 [GRCh38]
Chr5:137518469 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.2315G>A (p.Arg772His) single nucleotide variant not provided [RCV002606178] Chr5:138186391 [GRCh38]
Chr5:137522080 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.749G>A (p.Arg250Gln) single nucleotide variant not provided [RCV003071153] Chr5:138182907 [GRCh38]
Chr5:137518596 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1816T>C (p.Trp606Arg) single nucleotide variant not provided [RCV002586776] Chr5:138184939 [GRCh38]
Chr5:137520628 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1215A>G (p.Ser405=) single nucleotide variant not provided [RCV002611602] Chr5:138183968 [GRCh38]
Chr5:137519657 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.431T>C (p.Met144Thr) single nucleotide variant not provided [RCV002609991] Chr5:138182378 [GRCh38]
Chr5:137518067 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2337T>A (p.Asp779Glu) single nucleotide variant not provided [RCV002611919] Chr5:138186413 [GRCh38]
Chr5:137522102 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2629C>T (p.Arg877Cys) single nucleotide variant Inborn genetic diseases [RCV002611921]|not provided [RCV002611920] Chr5:138187369 [GRCh38]
Chr5:137523058 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.741C>T (p.Ile247=) single nucleotide variant not provided [RCV002612221] Chr5:138182899 [GRCh38]
Chr5:137518588 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.535A>G (p.Ile179Val) single nucleotide variant not provided [RCV002586262] Chr5:138182606 [GRCh38]
Chr5:137518295 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.956C>T (p.Pro319Leu) single nucleotide variant Inborn genetic diseases [RCV003183606] Chr5:138183292 [GRCh38]
Chr5:137518981 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.569G>A (p.Ser190Asn) single nucleotide variant Inborn genetic diseases [RCV003185163] Chr5:138182640 [GRCh38]
Chr5:137518329 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1427G>A (p.Gly476Asp) single nucleotide variant Inborn genetic diseases [RCV003259320] Chr5:138184313 [GRCh38]
Chr5:137520002 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2485C>T (p.Arg829Cys) single nucleotide variant Inborn genetic diseases [RCV003351898] Chr5:138187225 [GRCh38]
Chr5:137522914 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.2275G>A (p.Glu759Lys) single nucleotide variant Inborn genetic diseases [RCV003366354] Chr5:138186351 [GRCh38]
Chr5:137522040 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.146C>T (p.Ser49Phe) single nucleotide variant not provided [RCV003571365] Chr5:138179826 [GRCh38]
Chr5:137515515 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1519-12T>G single nucleotide variant not provided [RCV003686521] Chr5:138184500 [GRCh38]
Chr5:137520189 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.1519-9del deletion not provided [RCV003715179] Chr5:138184496 [GRCh38]
Chr5:137520185 [GRCh37]
Chr5:5q31.2
benign
NM_005733.3(KIF20A):c.1874A>C (p.Lys625Thr) single nucleotide variant not provided [RCV003687577] Chr5:138185145 [GRCh38]
Chr5:137520834 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.1278A>G (p.Glu426=) single nucleotide variant not provided [RCV003660658] Chr5:138184031 [GRCh38]
Chr5:137519720 [GRCh37]
Chr5:5q31.2
likely benign
NM_005733.3(KIF20A):c.329A>G (p.Asn110Ser) single nucleotide variant not provided [RCV003547970] Chr5:138181682 [GRCh38]
Chr5:137517371 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_005733.3(KIF20A):c.199G>T (p.Val67Leu) single nucleotide variant not provided [RCV003661949] Chr5:138181455 [GRCh38]
Chr5:137517144 [GRCh37]
Chr5:5q31.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1110
Count of miRNA genes:683
Interacting mature miRNAs:778
Transcripts:ENST00000394894, ENST00000502338, ENST00000503417, ENST00000504621, ENST00000508792, ENST00000511638, ENST00000513276
Prediction methods:Microtar, 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.

Markers in Region
RH48651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,523,061 - 137,523,216UniSTSGRCh37
Build 365137,550,960 - 137,551,115RGDNCBI36
Celera5133,644,350 - 133,644,505RGD
Cytogenetic Map5q31UniSTS
HuRef5132,714,059 - 132,714,214UniSTS
GeneMap99-GB4 RH Map5524.26UniSTS
WI-14323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,523,352 - 137,523,480UniSTSGRCh37
Build 365137,551,251 - 137,551,379RGDNCBI36
Celera5133,644,641 - 133,644,769RGD
Cytogenetic Map5q31UniSTS
HuRef5132,714,350 - 132,714,478UniSTS
GeneMap99-GB4 RH Map5524.56UniSTS
Whitehead-RH Map5433.9UniSTS
RH91186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,523,487 - 137,523,607UniSTSGRCh37
Build 365137,551,386 - 137,551,506RGDNCBI36
Celera5133,644,776 - 133,644,896RGD
Cytogenetic Map5q31UniSTS
HuRef5132,714,485 - 132,714,605UniSTS
GeneMap99-GB4 RH Map5524.46UniSTS
RH48412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,519,241 - 137,519,676UniSTSGRCh37
Build 365137,547,140 - 137,547,575RGDNCBI36
Celera5133,640,530 - 133,640,965RGD
Cytogenetic Map5q31UniSTS
HuRef5132,710,239 - 132,710,674UniSTS
GeneMap99-GB4 RH Map5524.46UniSTS
KIF20A_9042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,522,812 - 137,523,434UniSTSGRCh37
Build 365137,550,711 - 137,551,333RGDNCBI36
Celera5133,644,101 - 133,644,723RGD
HuRef5132,713,810 - 132,714,432UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 222 22 85 70 669 73 305 61 120 94 657 311 10 5 8 3
Low 874 868 566 233 805 145 1813 197 304 178 306 700 92 1 422 987 2
Below cutoff 1329 2061 1058 307 455 235 2154 1832 3038 146 490 597 71 774 1711

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC106752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC402781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA885917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA886351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA886785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA887219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB234916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB243616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB254231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB257204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB264125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB276745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB311556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB313846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB318840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB359905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB819640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB820074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000394894   ⟹   ENSP00000378356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,179,112 - 138,187,723 (+)Ensembl
RefSeq Acc Id: ENST00000502338   ⟹   ENSP00000426704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,184,828 - 138,187,243 (+)Ensembl
RefSeq Acc Id: ENST00000503417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,179,169 - 138,181,896 (+)Ensembl
RefSeq Acc Id: ENST00000504621   ⟹   ENSP00000424056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,179,221 - 138,182,747 (+)Ensembl
RefSeq Acc Id: ENST00000508792   ⟹   ENSP00000420880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,179,160 - 138,187,665 (+)Ensembl
RefSeq Acc Id: ENST00000511638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,179,168 - 138,181,704 (+)Ensembl
RefSeq Acc Id: ENST00000513276   ⟹   ENSP00000422928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5138,178,719 - 138,182,425 (+)Ensembl
RefSeq Acc Id: NM_005733   ⟹   NP_005724
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385138,179,112 - 138,187,723 (+)NCBI
GRCh375137,514,408 - 137,523,404 (+)NCBI
Build 365137,542,784 - 137,551,261 (+)NCBI Archive
HuRef5132,705,415 - 132,714,402 (+)ENTREZGENE
CHM1_15136,947,040 - 136,956,027 (+)NCBI
T2T-CHM13v2.05138,705,404 - 138,714,015 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005724 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC83230 (Get FASTA)   NCBI Sequence Viewer  
  AAD37806 (Get FASTA)   NCBI Sequence Viewer  
  AAH12999 (Get FASTA)   NCBI Sequence Viewer  
  BAG59441 (Get FASTA)   NCBI Sequence Viewer  
  CBX51350 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77691 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77700 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77709 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77718 (Get FASTA)   NCBI Sequence Viewer  
  CDH48197 (Get FASTA)   NCBI Sequence Viewer  
  CDH61619 (Get FASTA)   NCBI Sequence Viewer  
  CDH61673 (Get FASTA)   NCBI Sequence Viewer  
  CDH61692 (Get FASTA)   NCBI Sequence Viewer  
  CDH88990 (Get FASTA)   NCBI Sequence Viewer  
  CDH92528 (Get FASTA)   NCBI Sequence Viewer  
  CDH92542 (Get FASTA)   NCBI Sequence Viewer  
  CDH92553 (Get FASTA)   NCBI Sequence Viewer  
  CDH92800 (Get FASTA)   NCBI Sequence Viewer  
  CDH92897 (Get FASTA)   NCBI Sequence Viewer  
  CDI44672 (Get FASTA)   NCBI Sequence Viewer  
  CDI44681 (Get FASTA)   NCBI Sequence Viewer  
  EAW62157 (Get FASTA)   NCBI Sequence Viewer  
  EAW62158 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000378356
  ENSP00000378356.3
  ENSP00000420880.1
  ENSP00000422928.1
  ENSP00000424056.1
  ENSP00000426704.1
GenBank Protein O95235 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005724   ⟸   NM_005733
- UniProtKB: B4DL79 (UniProtKB/Swiss-Prot),   D3DQB6 (UniProtKB/Swiss-Prot),   O95235 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000426704   ⟸   ENST00000502338
RefSeq Acc Id: ENSP00000424056   ⟸   ENST00000504621
RefSeq Acc Id: ENSP00000420880   ⟸   ENST00000508792
RefSeq Acc Id: ENSP00000378356   ⟸   ENST00000394894
RefSeq Acc Id: ENSP00000422928   ⟸   ENST00000513276
Protein Domains
Kinesin motor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95235-F1-model_v2 AlphaFold O95235 1-890 view protein structure

Promoters
RGD ID:6803322
Promoter ID:HG_KWN:51196
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:ENST00000394894,   ENST00000402931,   OTTHUMT00000251282,   OTTHUMT00000318442,   OTTHUMT00000318443,   OTTHUMT00000318444,   OTTHUMT00000318447,   OTTHUMT00000318448,   OTTHUMT00000318449,   OTTHUMT00000318450,   OTTHUMT00000318451,   OTTHUMT00000318452,   UC003LCH.1,   UC003LCI.1,   UC003LCK.1,   UC010JES.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365137,542,186 - 137,543,857 (+)MPROMDB
RGD ID:6870694
Promoter ID:EPDNEW_H8512
Type:initiation region
Name:KIF20A_1
Description:kinesin family member 20A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385138,179,169 - 138,179,229EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9787 AgrOrtholog
COSMIC KIF20A COSMIC
Ensembl Genes ENSG00000112984 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000394894 ENTREZGENE
  ENST00000394894.8 UniProtKB/Swiss-Prot
  ENST00000502338.1 UniProtKB/TrEMBL
  ENST00000504621.1 UniProtKB/TrEMBL
  ENST00000508792.5 UniProtKB/Swiss-Prot
  ENST00000513276.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112984 GTEx
HGNC ID HGNC:9787 ENTREZGENE
Human Proteome Map KIF20A Human Proteome Map
InterPro KIF11-like UniProtKB/TrEMBL
  Kinesin-like_fam UniProtKB/Swiss-Prot
  Kinesin_motor_CS UniProtKB/Swiss-Prot
  Kinesin_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10112 UniProtKB/Swiss-Prot
NCBI Gene 10112 ENTREZGENE
OMIM 605664 OMIM
PANTHER KINESIN MOTOR DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  KINESIN-LIKE PROTEIN KIF11 UniProtKB/TrEMBL
  PTHR24115 UniProtKB/Swiss-Prot
  PTHR24115:SF352 UniProtKB/Swiss-Prot
Pfam Kinesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34149 PharmGKB
PRINTS KINESINHEAVY UniProtKB/Swiss-Prot
PROSITE KINESIN_MOTOR_1 UniProtKB/Swiss-Prot
  KINESIN_MOTOR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KISc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DL79 ENTREZGENE
  D3DQB6 ENTREZGENE
  D6R9E4_HUMAN UniProtKB/TrEMBL
  D6RBN1_HUMAN UniProtKB/TrEMBL
  H0YAC9_HUMAN UniProtKB/TrEMBL
  KI20A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DL79 UniProtKB/Swiss-Prot
  D3DQB6 UniProtKB/Swiss-Prot