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F6VUX8 · F6VUX8_HUMAN

  • Protein
    Centromere protein J
  • Gene
    CENPJ
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

111361002003004005006007008009001,0001,1005001000

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GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV6788324110L>Vcosmic curated
COSV10112156413G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10112156913G>Wcosmic curated
COSV6788421920W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA171698
COSV67882854
RCV000145583
RCV000152967
RCV000309037
RCV000401419
rs35498994
21M>L
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
VAR_032427
CA149026
COSV67883494
RCV000020856
RCV000081958
RCV000263946
RCV000988968
RCV002054459
rs35498994
21M>V
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl)
Seckel syndrome 1 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)UniProt
ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
COSV10112153423N>Hcosmic curated
COSV10470270125S>Fcosmic curated
COSV6788288526R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106554850
rs769170833
26R>Pcosmic curated
ExAC
COSV6788409528G>Rcosmic curated
COSV67883113
rs770200554
33R>Ccosmic curated
ExAC
TOPMed
gnomAD
COSV67883230
rs745427182
33R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV6788388236P>Scosmic curated
COSV67882894
rs377249179
45R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV6788392151S>Ccosmic curated
COSV10112158660H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6788296875L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10531012183N>Tcosmic curated
VAR_032430
CA171684
COSV67884526
RCV000145568
RCV000317427
RCV000372104
RCV000711280
rs9511510
85P>T
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)UniProt
ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV6788347588P>Acosmic curated
COSV6788289392K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10112155693S>Ycosmic curated
CA342344
COSV101121518
RCV000020853
RCV001113052
RCV002490398
RCV002513152
rs41306027
97T>A
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883526104K>Rcosmic curated
COSV67884408105G>Ecosmic curated
COSV67884175109A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884010110A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105933665111C>*cosmic curated
COSV67883063121N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883642123N>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA6920029
COSV67883214
RCV000480183
rs190803157
130A>VVariant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV67883826132E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883798133F>Lcosmic curated
COSV67883710133F>Scosmic curated
COSV67883603135E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121486142L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121453142L>Rcosmic curated
COSV101121506143F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884330147E>Vcosmic curated
COSV101121451148Q>*cosmic curated
COSV67883425151E>Dcosmic curated
COSV67883324153Q>Hcosmic curated
COSV67884276155K>Ecosmic curated
COSV67883622158E>*cosmic curated
COSV67883279
rs1327812314
159Q>Kcosmic curated
TOPMed
gnomAD
COSV101121508161K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121514176E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883427184G>Vcosmic curated
COSV67883357
rs763694655
186C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV105933662
rs538260662
195P>LVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ExAC
gnomAD
COSV67882916196D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884253198Q>Hcosmic curated
COSV67883601212E>Dcosmic curated
COSV67883459226P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883232229E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104702703233P>Scosmic curated
COSV67883148236I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105310089238S>Fcosmic curated
COSV67883340
rs1329876474
240E>Kcosmic curated
gnomAD
COSV105310068249H>Ycosmic curated
CA6919931
COSV67884014
RCV000593794
RCV000903211
RCV001007856
RCV001114340
rs150932292
255T>A
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV101121563
rs377197058
258R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883258
rs773425249
258R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV67883399259A>Tcosmic curated
COSV67883486
RCV002099295
rs532917061
259A>VBenign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV67882954260S>Ycosmic curated
COSV108235409272A>Tcosmic curated
COSV67884217
COSV67884251
275E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67882950275E>Acosmic curated
COSV67884251275E>Kcosmic curated
COSV101121545276K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105310101278N>Scosmic curated
COSV67883508281E>Qcosmic curated
COSV101121450
rs753832552
282E>Kcosmic curated
ExAC
gnomAD
COSV101121492282E>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883854
RCV001769550
rs141469869
284R>CVariant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883116
COSV67883522
rs369635681
284R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV67883116284R>Lcosmic curated
COSV101121590289G>*cosmic curated
COSV101121593299T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884124301Q>Ecosmic curated
COSV101121528303Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883613316S>Ccosmic curated
COSV67883139324E>Qcosmic curated
COSV105310103326P>Scosmic curated
COSV67883381
rs745991478
327I>Vcosmic curated
ExAC
TOPMed
gnomAD
COSV101121469332G>Vcosmic curated
COSV67884232339E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883780342L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105310064347Q>Lcosmic curated
COSV67883463355Q>Kcosmic curated
COSV101121464358L>Mcosmic curated
COSV67884382363G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106554849364P>Scosmic curated
COSV67883859373Q>Hcosmic curated
COSV67883856
rs749913523
374P>Tcosmic curated
ExAC
TOPMed
gnomAD
COSV67883223
rs761545596
378R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV67883771388A>Tcosmic curated
COSV67883482394K>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121467
rs1222002107
397E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV67884152402T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121583403N>Icosmic curated
COSV101121583
COSV101121588
403N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883995408E>Dcosmic curated
COSV67883414
RCV001329074
RCV001820020
RCV001859254
RCV002546302
rs192296063
408E>K
Seckel syndrome 4 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV67883217409D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121561
rs776367665
COSV105310120
411P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV105310112415M>Icosmic curated
COSV104702695416D>Ycosmic curated
COSV67883256417R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121579418Q>Hcosmic curated
COSV101121554419Q>*cosmic curated
COSV105310116421Q>*cosmic curated
COSV67884196421Q>Kcosmic curated
COSV67883032
rs773524787
422R>WVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV105310087
rs1391032548
426L>FVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
gnomAD
COSV101121491434D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104702709436P>Scosmic curated
COSV67883938437I>Fcosmic curated
COSV67883416438L>Fcosmic curated
COSV67884403
rs1364219026
438L>Icosmic curated
Ensembl
COSV67883319
rs1566295021
468L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
COSV104702697470P>Lcosmic curated
CA6919758
COSV67884299
RCV000302891
RCV000355343
RCV002056368
rs193181742
477T>M
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV67883945482D>Ncosmic curated
COSV67884247483G>Acosmic curated
COSV67883408501E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884203505E>Dcosmic curated
COSV105310100505E>Qcosmic curated
COSV67882848
rs754561101
507P>Lcosmic curated
ExAC
gnomAD
COSV105933667509P>Acosmic curated
COSV108235420509P>Lcosmic curated
COSV67884111
rs779744322
511D>Ncosmic curated
ExAC
gnomAD
COSV101121582
COSV67884111
511D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883386513G>Ccosmic curated
COSV67883870
rs1230889329
515T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV108235410
rs765312320
517W>Gcosmic curated
ExAC
gnomAD
COSV104702689527P>Scosmic curated
COSV67883947531G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA10643147
COSV67883556
RCV000291472
RCV000344042
rs371842504
532P>L
Seckel syndrome 4 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
cosmic curated
ClinVar
ESP
TOPMed
dbSNP
gnomAD
COSV67884324533A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883282534S>Gcosmic curated
COSV67883361534S>Ncosmic curated
COSV67883933
rs1593560049
537A>Scosmic curated
Ensembl
COSV107504219
rs1433358566
540S>Ncosmic curated
TOPMed
gnomAD
COSV101121505541P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121443
rs1954540245
541P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV67883539545T>Acosmic curated
COSV67884326546M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV107504211552S>Fcosmic curated
COSV67883419554D>Hcosmic curated
COSV101121548562E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106554852563T>Scosmic curated
CA6919712
COSV105933677
RCV000369854
RCV002265719
rs138228629
566R>*
Microcephaly 6, primary, autosomal recessive (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883669
rs748815881
566R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV67884271575L>Scosmic curated
COSV101121557577E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883578
RCV001730450
rs1453130615
582E>*Likely pathogenic (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV104702712583Q>Ecosmic curated
COSV101121495
rs777755478
584A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV67883734586D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108235418587E>Dcosmic curated
COSV67883294589S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105310093597V>Gcosmic curated
COSV67883628600I>Fcosmic curated
COSV107504214604D>Ncosmic curated
COSV101121494605Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883173
rs141856342
612R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883713613M>Vcosmic curated
COSV67882975614S>Pcosmic curated
COSV105310118627P>Scosmic curated
COSV67883849633H>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883816635N>Kcosmic curated
COSV67884284
rs1954531833
636R>CVariant of uncertain significance (Ensembl)cosmic curated
gnomAD
COSV67883727637S>Ccosmic curated
COSV101121473638E>*cosmic curated
COSV101121542643T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67882826
rs541232925
645R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA6919671
COSV108235414
RCV000292697
RCV000389328
rs773079639
645R>H
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV67883457646E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883424646E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA271253
COSV67883061
RCV000145563
RCV000332352
RCV000604935
RCV000896401
rs140927921
654A>T
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV101121544
rs1225292635
654A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV67883372661L>Fcosmic curated
COSV101121550667L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121504670Q>Rcosmic curated
COSV67883090683S>Fcosmic curated
COSV67884064687T>Icosmic curated
COSV67882926
RCV001926463
rs576775053
692R>CVariant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV101121562
RCV001905584
RCV002553487
rs200890637
692R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883911703S>Rcosmic curated
COSV67883851708E>Dcosmic curated
COSV101121476712V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883136720D>Acosmic curated
COSV67883433721R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA16619622
COSV101121479
RCV000483220
rs989387440
723R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV67883497725I>Vcosmic curated
COSV67884243727S>Ncosmic curated
COSV67884415728R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121510731S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121481732P>Scosmic curated
COSV107504215739G>Ecosmic curated
COSV67883591739G>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67882946
rs983379216
740P>Scosmic curated
TOPMed
COSV67883387748E>Dcosmic curated
COSV101121555755D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67882923758L>Fcosmic curated
COSV104432447762D>Ycosmic curated
COSV67883472
rs772264460
766D>Ncosmic curated
ExAC
TOPMed
gnomAD
COSV67883961
rs779276722
769I>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
gnomAD
COSV101121474771E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883093775H>Lcosmic curated
COSV101121553
rs755714584
777V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV67884092780P>Lcosmic curated
COSV67883645
RCV001112893
RCV001112894
rs201828176
781S>L
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV105933682792D>Ecosmic curated
COSV101121444794D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883792811V>Acosmic curated
COSV101121500813L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121570
rs1414892924
814G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV101121480816E>*cosmic curated
COSV67884504820G>Vcosmic curated
CA259904
COSV101121525
RCV000023763
RCV000597472
RCV000885649
RCV000988967
RCV001110892
RCV004541015
rs144938364
821T>M
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl)
Seckel syndrome 1 (ClinVar)
CENPJ-related disorder (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883417828N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883177
COSV67884312
831I>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883177
rs1433433164
831I>Vcosmic curated
TOPMed
gnomAD
COSV101121503834L>Mcosmic curated
COSV67882836
rs989356433
838I>Vcosmic curated
TOPMed
COSV108235401844P>Rcosmic curated
COSV101121549847R>Scosmic curated
COSV67883696
rs770154338
848G>Ecosmic curated
ExAC
TOPMed
gnomAD
COSV67884164850D>Ecosmic curated
COSV67884008855R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV107504217860P>Scosmic curated
COSV67883302861P>Lcosmic curated
COSV67883441866M>Icosmic curated
COSV67884048
rs1254416735
867M>Icosmic curated
TOPMed
gnomAD
COSV67883270876K>Ncosmic curated
COSV67883268877P>Acosmic curated
VAR_032432
CA171686
COSV67883550
RCV000020851
RCV000145569
RCV000294504
RCV000711281
rs17402892
879S>A
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Benign (Ensembl, ClinVar)UniProt
ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV101121465879S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121516
rs1194740975
890N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV67884367893Q>*cosmic curated
COSV107504218896P>Lcosmic curated
COSV67883951
rs541140338
897P>Scosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV67883506
rs1954466063
901A>Vcosmic curated
Ensembl
CA6919530
COSV104702716
RCV000598603
RCV000778389
rs374057641
902R>*
CENPJ-related disorder (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883141
rs941556834
902R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV101121488904Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108235403904Q>Ecosmic curated
COSV101121511904Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121446912E>Kcosmic curated
COSV101121571916E>*cosmic curated
COSV67884055916E>Kcosmic curated
COSV101121580919K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121509
COSV67883410
922A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67882920922A>Tcosmic curated
COSV101121509
COSV67883410
922A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883989
rs371350350
925A>TVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV101121517
RCV001110134
RCV001110135
RCV001856471
RCV003259097
rs199749446
931R>C
Seckel syndrome 4 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV67882864
rs761276069
934R>*cosmic curated
ExAC
TOPMed
gnomAD
COSV67883331937A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121502939E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883066942R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101121478951Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA271261
COSV106113385
RCV000145571
RCV000280271
RCV000380596
RCV000895689
rs138675304
951Q>R
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67883384
COSV67883708
rs1053431940
955E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Likely pathogenic (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV67883384
rs1053431940
955E>QLikely pathogenic (Ensembl)cosmic curated
TOPMed
gnomAD
COSV67884319957A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA6919486
COSV67882965
RCV000497511
RCV000762911
rs749343808
958R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Pathogenic (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV67882961
RCV001923204
rs1452062416
958R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV67884315961E>*cosmic curated
COSV101121513
COSV67884315
961E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104702694968R>Wcosmic curated
COSV99062058972K>Ncosmic curated
COSV101121485978E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884517981T>Acosmic curated
COSV67883954986T>Ncosmic curated
COSV67883606
rs150134807
988P>Scosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV105933674989D>Hcosmic curated
COSV67884482991K>Rcosmic curated
COSV67883757
rs375262924
993R>HVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV67883085
rs200583239
1001Q>Kcosmic curated
1000Genomes
TOPMed
gnomAD
COSV101121448
RCV001112817
RCV001112818
rs1954196857
1002Q>K
Seckel syndrome 4 (ClinVar)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
COSV67883345
rs1313804167
1007R>Qcosmic curated
gnomAD
CA6919422
COSV67883067
RCV000398214
rs568294978
1007R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV678842611009D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67884132
COSV67882867
1010L>Fcosmic curated
COSV678832401012R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV678829181020T>Icosmic curated
COSV678835531021H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV678830391022S>Gcosmic curated
COSV67883165
rs1165168883
1023R>CVariant of uncertain significance (Ensembl)cosmic curated
gnomAD
CA6919415
COSV101121567
RCV000284181
RCV000336835
RCV002520875
rs146950242
1023R>H
Seckel syndrome 4 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Microcephaly 6, primary, autosomal recessive (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV678837871024L>Rcosmic curated
COSV678830881027Q>Lcosmic curated
COSV678838761036T>Icosmic curated
COSV678839781037D>Ecosmic curated
COSV67883210
rs749766620
1039R>Wcosmic curated
ExAC
TOPMed
gnomAD
COSV1011215731040E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV678829371041E>Qcosmic curated
COSV101121538
COSV67882933
COSV67883987
1047R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883987
rs970616578
1047R>KVariant of uncertain significance (Ensembl)cosmic curated
Ensembl
COSV678829331047R>Tcosmic curated
COSV101121442
rs757159265
1049R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV67883524
rs1954193320
1049R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV678844281052A>Gcosmic curated
COSV678844311052A>Scosmic curated
COSV678842951053W>*cosmic curated
COSV1011215011055R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV678835931057E>Vcosmic curated
COSV678828511060E>Dcosmic curated
COSV67883500
rs773458980
1064E>Kcosmic curated
ExAC
TOPMed
gnomAD
COSV678839751066E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV67883671
rs772256266
1067K>Ecosmic curated
ExAC
TOPMed
gnomAD
COSV1011215371071L>Icosmic curated
CA6919387
COSV67883049
RCV000485858
rs769000518
1072A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV678837401073N>Tcosmic curated
COSV67884116
rs897793933
1074T>Icosmic curated
Ensembl
COSV67883312
rs1392548690
1075S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
COSV1059336851076V>Icosmic curated
COSV67883316
rs763373509
1077R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV1011214981091K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV678840881093K>Rcosmic curated
COSV1011215351094K>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104702715
rs770506371
1095N>Scosmic curated
ExAC
gnomAD
COSV67883259
rs1954098721
1095N>Ycosmic curated
Ensembl
COSV1059336751101G>Ccosmic curated
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