Q9UBB6 · NCDN_HUMAN

  • Protein
    Neurochondrin
  • Gene
    NCDN
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

1729100200300400500600700
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV57849078
TCGA novel
COSV100356893
1M>?
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
cosmic curated
NCI-TCGA
rs13899089222S>LgnomAD
rs12917292052S>PTOPMed
gnomAD
COSV578416813C>Fcosmic curated
rs16484437893C>SEnsembl
rs16484442314C>REnsembl
rs16484451304C>YEnsembl
rs13030969145D>GgnomAD
COSV57850657
rs1648446025
5D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
TCGA novel5D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs7620411496L>PExAC
TOPMed
gnomAD
rs12885471937A>VgnomAD
COSV57849225
rs868484453
8A>Vcosmic curated
Ensembl
rs7633388379A>TExAC
gnomAD
rs1477422489A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75116928510G>AExAC
TOPMed
gnomAD
COSV10463433110G>Rcosmic curated
COSV10035777212L>Fcosmic curated
rs164858413512L>MTOPMed
rs214853624112L>SEnsembl
rs78152420213G>DExAC
gnomAD
rs75616295615A>EExAC
TOPMed
gnomAD
rs75616295615A>GExAC
TOPMed
gnomAD
rs74840463415A>SExAC
rs75616295615A>VExAC
TOPMed
gnomAD
COSV57841718
rs749454935
16S>Gcosmic curated
ExAC
gnomAD
COSV10521435516S>Ncosmic curated
rs77133298116S>RExAC
rs74945493516S>RExAC
gnomAD
COSV5785138918M>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5784481819A>Tcosmic curated
TCGA novel21D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs123438374822C>FTOPMed
gnomAD
rs77244418323E>KExAC
gnomAD
rs77244418323E>QExAC
gnomAD
rs164858876524P>LTOPMed
gnomAD
rs127815746624P>TTOPMed
gnomAD
rs96020861825A>TTOPMed
gnomAD
rs77506240425A>VExAC
TOPMed
gnomAD
rs76033675926L>PExAC
gnomAD
rs127422826528Q>HTOPMed
gnomAD
rs76386731830E>DExAC
TOPMed
gnomAD
COSV5784289730E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV57843324
rs148946641
31G>Scosmic curated
ESP
ExAC
TOPMed
gnomAD
rs120828562632R>GTOPMed
gnomAD
COSV57842560
rs761426994
32R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV10035696834P>Hcosmic curated
rs164859304035T>PEnsembl
TCGA novel36L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs164859368636L>QEnsembl
rs76506445137E>DExAC
TOPMed
gnomAD
COSV100357748
COSV57850664
37E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100357748
COSV57850664
37E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5784538238R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV57845878
rs750407823
38R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV5784735939Y>Scosmic curated
COSV5784870741G>Ecosmic curated
rs144878368542A>VgnomAD
COSV57847995
rs1474420854
44R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
COSV57846149
rs758226457
44R>Hcosmic curated
ExAC
gnomAD
COSV5784567045E>Vcosmic curated
rs142001867051E>KEnsembl
rs75290788752Q>EExAC
gnomAD
rs164865203361K>QEnsembl
rs134644717662A>VTOPMed
gnomAD
rs128664431465A>GgnomAD
rs140450558667D>ETOPMed
gnomAD
rs76419605268I>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs141550002668I>TTOPMed
rs76419605268I>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs144979010771K>NTOPMed
gnomAD
TCGA novel72T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
RCV002246199
rs2148537359
73R>missing
Neurodevelopmental disorder with infantile epileptic spasms (ClinVar)
Likely pathogenic (ClinVar)ClinVar
dbSNP
rs75722169673R>PExAC
TOPMed
gnomAD
COSV100357388
rs757221696
73R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV100357676
rs1648653073
73R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV57847259
rs780581013
74R>Qcosmic curated
ExAC
TOPMed
gnomAD
rs37206147474R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV57844209
rs769088241
75R>Qcosmic curated
ExAC
TOPMed
gnomAD
rs164865423478D>GTOPMed
COSV5784546778D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75026978578D>NgnomAD
COSV5784591079A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs77872537280V>IExAC
TOPMed
gnomAD
rs77872537280V>LExAC
TOPMed
gnomAD
COSV57843130
rs1648654816
81G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs144527119983T>STOPMed
COSV5784750086N>Dcosmic curated
rs164865549886N>SEnsembl
COSV5784330087R>Ccosmic curated
RCV001808124
rs2148537420
87R>S
Neurodevelopmental disorder with infantile epileptic spasms (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV5784775388L>Fcosmic curated
rs140709843690T>ATOPMed
gnomAD
rs140709843690T>STOPMed
gnomAD
rs93640241490T>SgnomAD
rs123994332291T>ATOPMed
gnomAD
rs164865650591T>IEnsembl
rs137940767392K>RTOPMed
COSV57846751
rs753953315
94A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV105214358
rs1290454214
95P>Lcosmic curated
gnomAD
rs120273252596D>NgnomAD
rs125066415796D>VgnomAD
rs750473844100D>EExAC
gnomAD
COSV57847872101H>Rcosmic curated
rs1648657557101H>YgnomAD
rs752138615104R>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1010501797104R>WTOPMed
gnomAD
rs781629376107G>SExAC
gnomAD
rs267598577108V>GEnsembl
rs1648658587109A>PgnomAD
COSV57850286112A>Scosmic curated
rs1409347694115C>FgnomAD
TCGA novel115C>L
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1370253575115C>SgnomAD
rs769563841116S>GExAC
gnomAD
rs1331060628116S>NgnomAD
COSV57846341117D>Ecosmic curated
rs1401975894117D>VgnomAD
rs777606415118P>AExAC
gnomAD
COSV105214332119E>Kcosmic curated
rs1447323220121A>TgnomAD
rs770583774122A>PExAC
TOPMed
gnomAD
rs770583774122A>SExAC
TOPMed
gnomAD
rs770583774122A>TExAC
TOPMed
gnomAD
COSV57848448
rs1648660456
122A>Vcosmic curated
TOPMed
rs199589299124P>LEnsembl
rs1273629300124P>SgnomAD
COSV57843923130I>Mcosmic curated
COSV57851858131P>Acosmic curated
COSV100357691133L>Icosmic curated
rs1648661295134S>GgnomAD
rs1648661397134S>NTOPMed
gnomAD
rs1571083750135T>ATOPMed
rs1571083750135T>PTOPMed
rs1553236017137L>PEnsembl
COSV104634351
rs1187605552
138T>Icosmic curated
gnomAD
rs760428517139A>GExAC
TOPMed
gnomAD
rs760428517139A>VExAC
TOPMed
gnomAD
TCGA novel140R>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs200578072140R>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs200578072140R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1162062783140R>WTOPMed
gnomAD
rs977170049142D>AgnomAD
rs762979951142D>EExAC
TOPMed
gnomAD
COSV100357578
rs1028945097
142D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
TCGA novel142D>T
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1028945097142D>YTOPMed
gnomAD
rs766451366143P>LExAC
TOPMed
gnomAD
rs1648663153144D>YTOPMed
rs1467895598145D>NTOPMed
gnomAD
rs1648663450146A>TgnomAD
rs1384974926147A>PgnomAD
rs1432821860147A>VgnomAD
rs1296691386148R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)1000Genomes
TOPMed
dbSNP
gnomAD
COSV57844623
COSV57851383
rs1326831347
148R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV57851383148R>Pcosmic curated
COSV57850938
COSV57851480
rs767974563
149R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs753072425149R>HExAC
TOPMed
gnomAD
rs753072425149R>LExAC
TOPMed
gnomAD
COSV57851480149R>Scosmic curated
COSV100357432150S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV57849313152I>Ncosmic curated
COSV57846074154D>Ncosmic curated
rs1203818205155T>PgnomAD
rs1648664658156Y>FTOPMed
COSV57850270157Q>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1362185041158C>GTOPMed
gnomAD
rs1207425662160T>MgnomAD
COSV57846549161A>Tcosmic curated
rs778475964162V>IExAC
TOPMed
gnomAD
rs1648666114164G>DgnomAD
rs1376202214164G>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs772018198166P>RExAC
gnomAD
rs745439278166P>SExAC
gnomAD
rs1408391245167R>KgnomAD
TCGA novel169P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs143942845170R>GESP
ExAC
TOPMed
gnomAD
rs1319869402170R>LgnomAD
rs1319869402170R>QgnomAD
rs143942845170R>WESP
ExAC
TOPMed
gnomAD
rs539450659172L>I1000Genomes
TCGA novel172L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1648666965173I>VTOPMed
gnomAD
rs1648667089174A>PEnsembl
rs947943197177T>ITOPMed
gnomAD
rs2148537667177T>PEnsembl
rs771974575178V>LExAC
TOPMed
gnomAD
rs771974575178V>MExAC
TOPMed
gnomAD
rs1648667804180A>STOPMed
gnomAD
rs1571083936185Y>SEnsembl
rs1326485870187G>WgnomAD
COSV100357028
rs138793608
189G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753163717189G>DExAC
TOPMed
gnomAD
rs138793608189G>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs188751865190Y>C1000Genomes
ExAC
gnomAD
COSV57851994190Y>Ncosmic curated
rs1490268398191G>DgnomAD
TCGA novel196L>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
TCGA novel197A>H
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1234014588198L>FgnomAD
TCGA novel198L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1471676734200V>MTOPMed
gnomAD
rs1648671461201G>AgnomAD
COSV100357550204A>Dcosmic curated
rs112847107204A>TEnsembl
rs1648671897205A>STOPMed
COSV57846924
rs778473377
206A>Scosmic curated
ExAC
TOPMed
gnomAD
rs778473377206A>TExAC
TOPMed
gnomAD
COSV57846758206A>Vcosmic curated
rs1389786748207E>KgnomAD
rs1648672415208T>ITOPMed
rs757871167209Q>RExAC
TOPMed
gnomAD
COSV57851400210C>Fcosmic curated
COSV57849727212K>*cosmic curated
rs1304632319212K>NgnomAD
rs1348206516213E>DgnomAD
rs1648672826214A>STOPMed
COSV100357154
rs1183459050
214A>Vcosmic curated
TOPMed
rs746953868215E>DExAC
TOPMed
gnomAD
rs1648673303216P>RgnomAD
rs1558718795216P>SLikely benign (Ensembl)Ensembl
rs755671229217D>NExAC
TOPMed
gnomAD
rs755671229217D>YExAC
TOPMed
gnomAD
rs1359240456220A>GgnomAD
rs1359240456220A>VgnomAD
rs1271405870221V>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1271405870221V>MVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs372420726223R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372420726223R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1482190924223R>WTOPMed
gnomAD
TCGA novel224G>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1648674860224G>CTOPMed
gnomAD
rs1368093708224G>DTOPMed
rs1648674860224G>RTOPMed
gnomAD
COSV57847322226S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs772071163226S>IExAC
gnomAD
TCGA novel226S>R
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV57849409227E>Dcosmic curated
TCGA novel228D>Q
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1166736665230Q>RgnomAD
rs1648676362232A>DEnsembl
COSV57843499232A>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648675288232A>TgnomAD
rs761254119233E>AExAC
gnomAD
COSV57851237234D>Ncosmic curated
rs1571084072234D>YEnsembl
rs1648676973235A>TTOPMed
rs1648677709236S>GTOPMed
rs1169310220236S>NEnsembl
COSV100357713242Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel244L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV104395302248L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV57843945
rs754226344
250P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs764896836252T>AExAC
TOPMed
gnomAD
rs138767615253V>LESP
ExAC
TOPMed
gnomAD
rs138767615253V>MESP
ExAC
TOPMed
gnomAD
rs751126346254P>HExAC
TOPMed
gnomAD
COSV100356977254P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs768893626254P>SEnsembl
COSV57849721
rs1382695651
255P>Lcosmic curated
gnomAD
COSV100357190257C>Fcosmic curated
rs1340399067257C>STOPMed
gnomAD
rs769495645258Y>HExAC
TOPMed
gnomAD
COSV57841581
rs772400383
259R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV57844158
rs761875932
259R>WVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs1185279829260D>NgnomAD
COSV57849429260D>Ycosmic curated
rs1648680885261L>MEnsembl
rs144588804263A>GESP
ExAC
TOPMed
gnomAD
rs144588804263A>VESP
ExAC
TOPMed
gnomAD
COSV57851828264G>Ecosmic curated
COSV100357621
COSV57851828
264G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1168643533266A>EEnsembl
rs777301908267R>CExAC
TOPMed
gnomAD
rs762199210267R>HExAC
gnomAD
COSV57844761267R>Lcosmic curated
rs1464166753268I>VTOPMed
gnomAD
COSV57847745271S>Ncosmic curated
rs750035948278R>CExAC
TOPMed
gnomAD
rs1013869598278R>HTOPMed
gnomAD
rs1453991915280P>TgnomAD
rs1648682204283K>NEnsembl
rs1379549827285A>GTOPMed
COSV100357481286A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1363495505287R>CgnomAD
rs766087108287R>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1295217652289A>VTOPMed
gnomAD
rs751036326290H>QExAC
TOPMed
gnomAD
rs969318014291A>STOPMed
gnomAD
rs969318014291A>TTOPMed
gnomAD
TCGA novel291A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs754530076292C>GExAC
TOPMed
gnomAD
rs754530076292C>RExAC
TOPMed
gnomAD
COSV105214373293G>Ccosmic curated
rs769855847293G>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV57844768293G>Vcosmic curated
COSV57850555
rs368464438
294S>Fcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1648686099294S>PTOPMed
rs1186887015295D>EgnomAD
rs369452951295D>NExAC
TOPMed
gnomAD
rs369452951295D>YExAC
TOPMed
gnomAD
COSV57845474296W>Rcosmic curated
rs773171405298P>LTOPMed
gnomAD
rs1421284275298P>TgnomAD
TCGA novel299A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs780475408299A>VExAC
TOPMed
gnomAD
rs1339330704301S>NgnomAD
rs777214106302S>PExAC
gnomAD
COSV100357195302S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1289801038303G>RTOPMed
gnomAD
rs1289801038303G>WTOPMed
gnomAD
COSV100357653
COSV100357257
306F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA Cosmic
COSV100356742308A>Scosmic curated
rs1324394398308A>VgnomAD
rs1274100960309L>VTOPMed
gnomAD
rs1430961996310L>VTOPMed
gnomAD
rs1571084311311V>GEnsembl
COSV100357912314A>Scosmic curated
rs1225401226314A>VTOPMed
gnomAD
COSV57848923316V>Lcosmic curated
COSV57844243
rs1216343677
316V>Mcosmic curated
TOPMed
gnomAD
rs1648689387317E>QgnomAD
rs1648689474318V>AEnsembl
rs774014076319R>QExAC
TOPMed
gnomAD
rs759004083320L>MExAC
TOPMed
gnomAD
rs987912428321A>SEnsembl
rs11545628321A>VEnsembl
rs1156310233322L>VgnomAD
rs1571084360323E>GEnsembl
rs1406495920323E>KgnomAD
rs1465160957324E>GTOPMed
COSV57844646324E>Kcosmic curated
rs572728420325T>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1648690911326G>RgnomAD
rs757143203327T>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV100357872
rs943795393
328E>Dcosmic curated
TOPMed
gnomAD
COSV106416987328E>Kcosmic curated
rs1571084391329V>GEnsembl
rs1403434230329V>LgnomAD
RCV001775364
rs2148538021
331E>missing
Neurodevelopmental disorder with infantile epileptic spasms (ClinVar)
Likely pathogenic (ClinVar)ClinVar
dbSNP
rs747241342332D>AExAC
TOPMed
gnomAD
rs1277871540332D>EgnomAD
rs150364361333V>L1000Genomes
ExAC
TOPMed
gnomAD
rs150364361333V>M1000Genomes
ExAC
TOPMed
gnomAD
rs1571084410334V>GEnsembl
rs781409276334V>L1000Genomes
ExAC
gnomAD
rs781409276334V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
dbSNP
gnomAD
rs773816119336A>SExAC
TOPMed
gnomAD
rs773816119336A>TExAC
TOPMed
gnomAD
COSV57848742336A>Vcosmic curated
COSV57849320
rs201718421
338Y>Ccosmic curated
1000Genomes
TCGA novel339A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV57850931339A>Vcosmic curated
rs1490734140341M>TgnomAD
COSV57845534342E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648693270344G>RTOPMed
TCGA novel346Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV100356733346Q>Hcosmic curated
rs759196253350R>CExAC
TOPMed
gnomAD
rs1648693817350R>HEnsembl
rs1410770660353Q>ETOPMed
gnomAD
rs536102934354S>A1000Genomes
ExAC
gnomAD
COSV57843931354S>Tcosmic curated
rs760286139358E>KExAC
TOPMed
gnomAD
rs184232102359P>S1000Genomes
rs1648694647364L>FTOPMed
gnomAD
rs1648694857365V>MTOPMed
COSV57849491
rs761636138
367V>Icosmic curated
ExAC
TOPMed
gnomAD
rs1648695373370E>GTOPMed
COSV107352273371A>Dcosmic curated
rs1292243764371A>TgnomAD
TCGA novel371A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1202626049372I>TTOPMed
gnomAD
rs750301464372I>VExAC
gnomAD
rs755247482373G>EExAC
TOPMed
gnomAD
rs200105021374A>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs200105021374A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1571084520375V>GEnsembl
rs1330493557376I>TTOPMed
rs1443345623377H>QgnomAD
COSV100357060378Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648696864378Y>CEnsembl
rs1233051446378Y>HTOPMed
gnomAD
rs1446776595381Q>LgnomAD
COSV57846268
rs1571085352
382V>Gcosmic curated
Ensembl
rs752994640382V>LExAC
TOPMed
gnomAD
rs752994640382V>MExAC
TOPMed
gnomAD
rs756078567383G>EExAC
gnomAD
TCGA novel383G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1042604216388K>QEnsembl
rs777917944388K>RExAC
gnomAD
COSV61935345390P>Scosmic curated
rs935230807391F>LTOPMed
gnomAD
VAR_039849
COSV61935740
rs753974779
392V>E
a colorectal cancer sample; somatic mutation (UniProt)
Variant of uncertain significance (UniProt)UniProt
cosmic curated
ExAC
dbSNP
gnomAD
VAR_039850
COSV61935735
392V>L
a colorectal cancer sample; somatic mutation (UniProt)
Variant of uncertain significance (UniProt)UniProt
cosmic curated
rs1648733931392V>MTOPMed
COSV100622089
rs1571085379
395S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV61937279396V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648734284397R>LTOPMed
COSV61934656397R>Qcosmic curated
COSV61936370
rs1229198411
397R>Wcosmic curated
TOPMed
gnomAD
COSV100621998399L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1557426894403L>MEnsembl
rs1223558987405E>KgnomAD
rs1648734790407T>STOPMed
COSV61935333408S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61936231409S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61934904
rs746183935
411R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV61935751
COSV61936638
rs1347739249
411R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV61936638411R>Lcosmic curated
rs988414930413E>DTOPMed
rs771157715414V>LTOPMed
COSV61935257
rs771157715
414V>Mcosmic curated
TOPMed
rs1648735564416Q>LgnomAD
rs1447898700422V>FTOPMed
gnomAD
COSV99049428
rs1447898700
422V>Icosmic curated
TOPMed
gnomAD
rs374178078423R>CESP
TOPMed
gnomAD
rs374178078423R>GESP
TOPMed
gnomAD
rs200536942423R>HVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs200536942423R>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
COSV61937182423R>Scosmic curated
TCGA novel424Y>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV61935285428L>Icosmic curated
COSV61935067
rs998037805
429Y>Ccosmic curated
gnomAD
rs768250891430E>KExAC
gnomAD
rs776202085431E>VExAC
COSV100622015433E>*cosmic curated
rs376408289433E>KLikely pathogenic (Ensembl)ExAC
TOPMed
gnomAD
VAR_085876
RCV001391338
RCV001526833
rs376408289
433E>Q
NEDIES; uncertain significance; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; no effect on phosphorylation of ERK1/ERK2 (UniProt)
Intellectual disability (ClinVar)
Likely pathogenic (Ensembl, ClinVar)UniProt
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1648737254434E>KEnsembl
rs1157891472436N>SgnomAD
rs773302140438L>FExAC
TOPMed
gnomAD
rs773302140438L>VExAC
TOPMed
gnomAD
COSV100622061441Q>Hcosmic curated
COSV61934965441Q>Kcosmic curated
rs1454208959442V>MEnsembl
COSV100621876
rs762796673
443A>Vcosmic curated
ExAC
gnomAD
COSV105258556444N>Scosmic curated
rs766199700447I>MExAC
gnomAD
COSV61934732448S>Fcosmic curated
COSV100621974448S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61935728449P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61934889
rs142794758
450T>ILikely benign (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV61934732450T>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1571085548451T>IEnsembl
COSV108187752453G>Ecosmic curated
rs141279967453G>RESP
ExAC
TOPMed
gnomAD
COSV61936995456W>*cosmic curated
rs1648739101457P>LTOPMed
rs1648739267458G>RTOPMed
rs1648739522459D>AgnomAD
rs1351911818459D>HgnomAD
COSV100621931
rs758633602
460A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
TCGA novel462R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV105918235
rs1276198303
462R>Qcosmic curated
TOPMed
COSV61937535
rs1490243053
462R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs780949774467G>VExAC
gnomAD
COSV61936878
rs956053377
473V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
TCGA novel474E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV61935236477P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs748812666477P>LExAC
gnomAD
rs966846201477P>STOPMed
gnomAD
VAR_085877
RCV001391339
RCV001526832
rs1305972382
478R>Q
NEDIES; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; no effect on phosphorylation of ERK1/ERK2 (UniProt)
Cerebellar ataxia (ClinVar)
Pathogenic (UniProt)UniProt
ClinVar
dbSNP
gnomAD
rs374733075478R>WESP
ExAC
TOPMed
gnomAD
COSV106507634
rs1648761978
479E>Kcosmic curated
TOPMed
rs774201737480I>LExAC
gnomAD
COSV61935432480I>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648762179482I>MgnomAD
rs1461541404483K>ETOPMed
rs745639355485G>RExAC
gnomAD
COSV61934869487P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105918234
rs762010739
488S>Lcosmic curated
ExAC
TOPMed
gnomAD
TCGA novel491C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV100622237
rs773247590
492K>Ncosmic curated
ExAC
gnomAD
COSV61937343498W>Lcosmic curated
VAR_085878
RCV001391340
RCV001526830
rs2148539394
498W>R
NEDIES; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; in these cells, there is markedly decreased phosphorylation of ERK1/ERK2, compared to wild-type, suggesting impaired GRM5 activation (UniProt)
Intellectual disability (ClinVar)
Neurodevelopmental disorder with infantile epileptic spasms (ClinVar)
Pathogenic (Ensembl, ClinVar)UniProt
ClinVar
Ensembl
dbSNP
rs1648765205500L>FEnsembl
COSV61934681501T>Icosmic curated
rs766859600502S>AExAC
gnomAD
COSV104660347502S>Fcosmic curated
rs1648765574503P>SEnsembl
TCGA novel503P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs768006525506D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs1648765837507T>IEnsembl
COSV61936927
rs753167349
508S>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV100621879511P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs571289950514V>L1000Genomes
ExAC
TOPMed
gnomAD
COSV61936853
rs571289950
514V>Mcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs149457796515E>KESP
TOPMed
rs1253320811516I>MgnomAD
rs538755303516I>S1000Genomes
ExAC
TOPMed
gnomAD
rs538755303516I>T1000Genomes
ExAC
TOPMed
gnomAD
rs745810704517G>AExAC
gnomAD
rs1571086161520T>PEnsembl
rs1287121623526L>VTOPMed
rs76895472527N>SEnsembl
rs1212078626529V>MgnomAD
rs867781298532A>TEnsembl
rs1648768282533P>LTOPMed
COSV107417881533P>Scosmic curated
COSV61936839535L>*cosmic curated
COSV61934773536I>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1301160018537K>MTOPMed
gnomAD
COSV105258540
rs1648781662
537K>Ncosmic curated
TOPMed
COSV61936311
rs1648781752
538R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV105258539
rs911036691
538R>Hcosmic curated
TOPMed
gnomAD
rs147373266539D>EESP
ExAC
TOPMed
gnomAD
rs777983350540A>TExAC
TOPMed
gnomAD
COSV61934553541C>Wcosmic curated
rs1648782310543T>AEnsembl
TCGA novel543T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1335645746544S>CTOPMed
gnomAD
rs1648782578546M>IgnomAD
rs1648782909550M>VTOPMed
COSV61937637
rs1302736618
551T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs749484417551T>SExAC
gnomAD
COSV100621999
rs1648783330
552S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
TCGA novel555A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs200493007557V>LExAC
TOPMed
gnomAD
COSV61934908558Q>Hcosmic curated
rs1648785440558Q>REnsembl
rs761056103560Q>EVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV61935077561G>Vcosmic curated
rs764383759562R>GExAC
gnomAD
rs1202844460564L>PTOPMed
rs1307839644564L>VTOPMed
rs1201815463565L>RgnomAD
rs777114789566A>SExAC
gnomAD
COSV61936100571T>Icosmic curated
COSV100622177574L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1179737808577A>TgnomAD
TCGA novel580L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1474691583582T>ATOPMed
rs1163229989583S>PgnomAD
rs760497699583S>YEnsembl
COSV100622187584P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs747509009585A>GExAC
TOPMed
gnomAD
COSV61936221585A>Vcosmic curated
TCGA novel588G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel589T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1648833506590P>ATOPMed
TCGA novel591A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV61935563593R>*cosmic curated
COSV61937014593R>Qcosmic curated
COSV100622094
COSV61936028
594G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100622092594G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61936028594G>Vcosmic curated
rs1648833720595F>LTOPMed
gnomAD
rs1197796445597A>TTOPMed
gnomAD
COSV61935612598A>Tcosmic curated
rs1244607623599A>VTOPMed
COSV100622095600I>Fcosmic curated
rs1172785202600I>VgnomAD
COSV105918227602F>Icosmic curated
COSV61937265605Q>Hcosmic curated
COSV61935207
rs147694879
608V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV61934540
rs1012827506
609A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV61935314
rs762381306
610R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs201424861610R>WVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1648835362611A>VEnsembl
COSV61934781
rs148888595
613P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV61934741613P>Scosmic curated
rs1648835865614G>ATOPMed
rs1321361648614G>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1322052384615S>AgnomAD
rs1392411224615S>LgnomAD
rs752409540617Q>KExAC
gnomAD
rs1648836588622L>REnsembl
rs1648836763623S>CTOPMed
TCGA novel624P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1648837021624P>LVariant of uncertain significance (Ensembl)TOPMed
rs1478226229624P>SgnomAD
rs746108612625E>GExAC
gnomAD
COSV61937334626Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648837420628G>SgnomAD
rs1648837507629I>VTOPMed
gnomAD
COSV100622219630W>Ccosmic curated
COSV61934998630W>Lcosmic curated
COSV61934692631A>Tcosmic curated
rs1648837853633L>MTOPMed
rs1287359355634Q>LTOPMed
rs1571088016645T>PEnsembl
rs1648838749646G>SEnsembl
COSV61937562647C>Ycosmic curated
rs1452933073648V>LTOPMed
gnomAD
TCGA novel649P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs762580458652P>HPathogenic (Ensembl)ExAC
gnomAD
VAR_085879
RCV001391341
RCV001526831
rs762580458
652P>L
NEDIES; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; in these cells, there is markedly decreased phosphorylation of ERK1/ERK2, compared to wild-type, suggesting impaired GRM5 activation (UniProt)
Cerebellar ataxia (ClinVar)
Neurodevelopmental disorder with infantile epileptic spasms (ClinVar)
Pathogenic (Ensembl, ClinVar)UniProt
ClinVar
ExAC
dbSNP
gnomAD
COSV61934916
rs752708609
657A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1203753278660R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs1285645168660R>HTOPMed
gnomAD
COSV61936270
rs760317998
662R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV100621949
rs753756603
664P>Lcosmic curated
ExAC
gnomAD
COSV61937210
rs1480122351
664P>Scosmic curated
gnomAD
rs920575320666E>DTOPMed
rs1571088132668L>PEnsembl
rs1648841514670L>RgnomAD
rs1557427455672G>REnsembl
rs2148540614674V>GEnsembl
rs1557427456675S>CEnsembl
rs1648842071675S>TgnomAD
COSV100621926676P>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1648842283677N>SVariant of uncertain significance (Ensembl)Ensembl
COSV105258557678S>Ycosmic curated
rs1300847448679V>IgnomAD
rs1386817472681P>SgnomAD
rs1386817472681P>TgnomAD
rs1048354845682E>ATOPMed
gnomAD
rs1333317577682E>KgnomAD
rs1308990474683M>LTOPMed
gnomAD
rs1354811416683M>TgnomAD
rs1308990474683M>VTOPMed
gnomAD
rs755117260684V>MExAC
gnomAD
rs1210502929686A>SgnomAD
rs1210502929686A>TgnomAD
rs1269482534686A>VgnomAD
TCGA novel688Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1648844279691L>VgnomAD
rs937172725695A>VTOPMed
gnomAD
rs1056929819696R>QTOPMed
gnomAD
TCGA novel696R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs919922117697A>GEnsembl
COSV100621869697A>Tcosmic curated
rs1384220448699R>PgnomAD
rs1384220448699R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV108187754699R>Wcosmic curated
rs1390195110702R>QgnomAD
rs1648845948704A>VTOPMed
rs1418871638705M>LTOPMed
gnomAD
rs1418871638705M>VTOPMed
gnomAD
COSV106105816
rs1242730068
709A>Vcosmic curated
gnomAD
COSV100621988710G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs931294403711E>KTOPMed
gnomAD
rs770543784712E>DExAC
COSV61937578
RCV002262228
rs774010404
713T>MLikely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs200496864714A>PExAC
gnomAD
rs1238684998715S>RgnomAD
rs866410933718R>CgnomAD
rs368983567718R>HESP
ExAC
TOPMed
gnomAD
rs368983567718R>LESP
ExAC
TOPMed
gnomAD
rs866410933718R>SgnomAD
rs2148540700719M>L1000Genomes
rs760660286720A>TExAC
gnomAD
rs866509876725C>*Ensembl
COSV61936161725C>Ycosmic curated
COSV108187755729P>Scosmic curated
rs1401653292729P>TgnomAD
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