Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


478 records found for search term Ncstn
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405278196CV3205918single nucleotide variantNM_015331.3(NCSTN):c.-6G>CNCSTN-related disorder [RCV003964030]likely benign1160343391160343391Humanname , trait , alternate_id
150540985CV1297341single nucleotide variantNM_015331.3(NCSTN):c.86-6G>Tnot provided [RCV001767023]uncertain significance1160344716160344716Humanname
152101747CV1621960single nucleotide variantNM_015331.3(NCSTN):c.85+7C>Tnot provided [RCV002115433]likely benign1160343488160343488Humanname
156005423CV2166824single nucleotide variantNM_015331.3(NCSTN):c.86-6G>Anot provided [RCV003017470]likely benign1160344716160344716Humanname
405114969CV3115510single nucleotide variantNM_015331.3(NCSTN):c.86-7C>Tnot provided [RCV003814192]likely benign1160344715160344715Humanname
127296597CV1153314single nucleotide variantNM_015331.3(NCSTN):c.996+7G>AAcne inversa, familial, 1 [RCV001837008]|NCSTN-related disorder [RCV003980501]|not provided [RCV001512582]benign|likely benign|uncertain significance1160352213160352213Human1name , trait , alternate_id
151809105CV1374810single nucleotide variantNM_015331.3(NCSTN):c.314+3A>Gnot provided [RCV001933016]uncertain significance1160349125160349125Humanname
151811973CV1515779single nucleotide variantNM_015331.3(NCSTN):c.436+1G>Cnot provided [RCV002012527]likely pathogenic1160349671160349671Humanname
152149831CV1555779single nucleotide variantNM_015331.3(NCSTN):c.86-15T>Cnot provided [RCV002179275]likely benign1160344707160344707Humanname
152163255CV1561271single nucleotide variantNM_015331.3(NCSTN):c.734-5C>TNCSTN-related disorder [RCV003933533]|not provided [RCV002104200]benign|likely benign1160351691160351691Human1name , trait , alternate_id
152166481CV1566396single nucleotide variantNM_015331.3(NCSTN):c.85+16C>Anot provided [RCV002160658]likely benign1160343497160343497Humanname
156419558CV1977452single nucleotide variantNM_015331.3(NCSTN):c.86-16T>Cnot provided [RCV002612795]benign1160344706160344706Humanname
156014067CV2009029single nucleotide variantNM_015331.3(NCSTN):c.844-8G>Tnot provided [RCV002690671]likely benign1160352046160352046Humanname
156087396CV2060626single nucleotide variantNM_015331.3(NCSTN):c.85+18G>Anot provided [RCV002824059]likely benign1160343499160343499Humanname
155992596CV2063828single nucleotide variantNM_015331.3(NCSTN):c.191-3C>Tnot provided [RCV002843028]uncertain significance1160348996160348996Humanname
155966523CV2082799deletionNM_015331.3(NCSTN):c.85+17delnot provided [RCV002881281]likely benign1160343496160343496Humanname
156304457CV2129679single nucleotide variantNM_015331.3(NCSTN):c.437-8C>Gnot provided [RCV002962296]likely benign1160350097160350097Humanname
156032236CV2132695single nucleotide variantNM_015331.3(NCSTN):c.582+8C>Tnot provided [RCV002999191]likely benign1160350258160350258Humanname
156165792CV2169607single nucleotide variantNM_015331.3(NCSTN):c.191-7C>Gnot provided [RCV003023358]uncertain significance1160348992160348992Humanname
405065305CV2939886single nucleotide variantNM_015331.3(NCSTN):c.86-20A>Gnot provided [RCV003659011]likely benign1160344702160344702Humanname
402473669CV3012769single nucleotide variantNM_015331.3(NCSTN):c.85+14G>Cnot provided [RCV003695563]likely benign1160343495160343495Humanname
405172033CV3025804single nucleotide variantNM_015331.3(NCSTN):c.997-5C>Tnot provided [RCV003704675]uncertain significance1160352882160352882Humanname
404979977CV3127900single nucleotide variantNM_015331.3(NCSTN):c.997-9A>Gnot provided [RCV003825932]likely benign1160352878160352878Humanname
405060583CV3148285single nucleotide variantNM_015331.3(NCSTN):c.436+9C>Tnot provided [RCV003850241]likely benign1160349679160349679Humanname
597910204CV3836934single nucleotide variantNM_015331.3(NCSTN):c.314+7A>Gnot provided [RCV005185285]likely benign1160349129160349129Humanname
126772874CV1002256single nucleotide variantNM_015331.3(NCSTN):c.1102-3C>Tnot provided [RCV001324005]uncertain significance1160353157160353157Humanname
127305382CV1153311single nucleotide variantNM_015331.3(NCSTN):c.733+18C>Gnot provided [RCV001516257]benign1160351390160351390Human1name
127305382CV1153311single nucleotide variantNM_015331.3(NCSTN):c.733+18C>Gnot provided [RCV001516257]benign1160351390160351391Human1name
127299004CV1153312single nucleotide variantNM_015331.3(NCSTN):c.733+19A>Tnot provided [RCV001513511]benign1160351391160351391Humanname
127297293CV1153317single nucleotide variantNM_015331.3(NCSTN):c.1180-5C>Gnot provided [RCV001512823]benign1160354113160354113Humanname
151710810CV1377121single nucleotide variantNM_015331.3(NCSTN):c.1180-3C>Tnot provided [RCV001889341]uncertain significance1160354115160354115Humanname
152136592CV1560685single nucleotide variantNM_015331.3(NCSTN):c.437-12C>GAcne inversa, familial, 1 [RCV002494311]|not provided [RCV002137619]likely benign1160350093160350093Human1name
152031499CV1571667single nucleotide variantNM_015331.3(NCSTN):c.1180-4C>Gnot provided [RCV002186707]likely benign1160354114160354114Humanname
152107412CV1581896single nucleotide variantNM_015331.3(NCSTN):c.1353-7C>Tnot provided [RCV002079794]likely benign1160355648160355648Humanname
152034853CV1584682single nucleotide variantNM_015331.3(NCSTN):c.1551+7A>Cnot provided [RCV002125164]likely benign1160355965160355965Humanname
152153788CV1592920single nucleotide variantNM_015331.3(NCSTN):c.191-19A>Gnot provided [RCV002202381]likely benign1160348980160348980Humanname
152079544CV1596973single nucleotide variantNM_015331.3(NCSTN):c.1180-4C>Anot provided [RCV002092668]likely benign1160354114160354114Humanname
152085799CV1608243single nucleotide variantNM_015331.3(NCSTN):c.1180-9A>Gnot provided [RCV002212023]likely benign1160354109160354109Humanname
152106623CV1609669single nucleotide variantNM_015331.3(NCSTN):c.1353-4G>CNCSTN-related disorder [RCV003958742]|not provided [RCV002116010]benign|likely benign1160355651160355651Human1name , trait , alternate_id
152146099CV1615253duplicationNM_015331.3(NCSTN):c.1102-3dupnot provided [RCV002101497]benign1160353151160353152Humanname
152043620CV1619895single nucleotide variantNM_015331.3(NCSTN):c.437-18C>Tnot provided [RCV002188580]likely benign1160350087160350087Humanname
152137236CV1625507single nucleotide variantNM_015331.3(NCSTN):c.436+15G>Anot provided [RCV002137708]likely benign1160349685160349685Humanname
152176251CV1628647single nucleotide variantNM_015331.3(NCSTN):c.734-11G>Cnot provided [RCV002164394]likely benign1160351685160351685Humanname
152162071CV1635680single nucleotide variantNM_015331.3(NCSTN):c.191-17T>Anot provided [RCV002203606]likely benign1160348982160348982Humanname
152162224CV1635706duplicationNM_015331.3(NCSTN):c.1180-3dupnot provided [RCV002203632]benign1160354109160354110Humanname
152028575CV1642846single nucleotide variantNM_015331.3(NCSTN):c.733+13C>Tnot provided [RCV002185881]likely benign1160351385160351385Humanname
152142910CV1654522single nucleotide variantNM_015331.3(NCSTN):c.436+12A>Gnot provided [RCV002200809]likely benign1160349682160349682Humanname
152099953CV1664039single nucleotide variantNM_015331.3(NCSTN):c.437-14A>Gnot provided [RCV002078856]likely benign1160350091160350091Humanname
152123272CV1665515single nucleotide variantNM_015331.3(NCSTN):c.190+12T>Cnot provided [RCV002198342]likely benign1160344838160344838Humanname
156286606CV1884867single nucleotide variantNM_015331.3(NCSTN):c.1180-8C>Anot provided [RCV003061271]likely benign1160354110160354110Humanname
156409861CV1922924single nucleotide variantNM_015331.3(NCSTN):c.1102-4C>Gnot provided [RCV002607682]likely benign1160353156160353156Humanname
155906621CV1972174single nucleotide variantNM_015331.3(NCSTN):c.582+10C>Tnot provided [RCV002613711]likely benign1160350260160350260Humanname
156158611CV2009335single nucleotide variantNM_015331.3(NCSTN):c.1456-9C>TNCSTN-related disorder [RCV003943482]|not provided [RCV002710085]likely benign1160355854160355854Human1name , trait , alternate_id
156175568CV2052010single nucleotide variantNM_015331.3(NCSTN):c.734-18T>Cnot provided [RCV002828132]uncertain significance1160351678160351678Humanname
156027133CV2055895single nucleotide variantNM_015331.3(NCSTN):c.996+12T>Gnot provided [RCV002820899]likely benign1160352218160352218Humanname
155962345CV2089152single nucleotide variantNM_015331.3(NCSTN):c.315-14C>Tnot provided [RCV002881084]likely benign|uncertain significance1160349535160349535Humanname
156208957CV2103939single nucleotide variantNM_015331.3(NCSTN):c.1456-3C>Tnot provided [RCV002931981]uncertain significance1160355860160355860Humanname
156196085CV2157154single nucleotide variantNM_015331.3(NCSTN):c.1352+1G>Cnot provided [RCV003006163]likely pathogenic1160354291160354291Humanname
156214040CV2171101single nucleotide variantNM_015331.3(NCSTN):c.996+13T>Cnot provided [RCV003042444]likely benign1160352219160352219Humanname
156362564CV2180559single nucleotide variantNM_015331.3(NCSTN):c.583-19G>Anot provided [RCV003049128]likely benign1160351203160351203Humanname
329351410CV2478045single nucleotide variantNM_015331.3(NCSTN):c.1179+6C>GAcne inversa, familial, 1 [RCV003224711]uncertain significance1160353243160353243Human1name
405086437CV2862218single nucleotide variantNM_015331.3(NCSTN):c.1179+6C>Tnot provided [RCV003549598]uncertain significance1160353243160353243Humanname
405239876CV2882681single nucleotide variantNM_015331.3(NCSTN):c.2008-7C>Gnot provided [RCV003557174]likely benign1160358142160358142Humanname
405088898CV2943475single nucleotide variantNM_015331.3(NCSTN):c.437-17C>Tnot provided [RCV003665148]likely benign1160350088160350088Humanname
405084084CV2946442single nucleotide variantNM_015331.3(NCSTN):c.1102-8C>Tnot provided [RCV003664827]likely benign1160353152160353152Humanname
405125717CV2958387single nucleotide variantNM_015331.3(NCSTN):c.583-17T>Cnot provided [RCV003667901]likely benign1160351205160351205Humanname
405220236CV2969640single nucleotide variantNM_015331.3(NCSTN):c.1640-3C>Anot provided [RCV003680569]uncertain significance1160356597160356597Humanname
402502097CV3035484single nucleotide variantNM_015331.3(NCSTN):c.734-19T>Cnot provided [RCV003714801]likely benign1160351677160351677Humanname
404979867CV3127832single nucleotide variantNM_015331.3(NCSTN):c.190+20T>Cnot provided [RCV003825864]likely benign1160344846160344846Humanname
405191950CV3149716single nucleotide variantNM_015331.3(NCSTN):c.733+14G>Tnot provided [RCV003843442]likely benign1160351386160351386Humanname
405238014CV3165368single nucleotide variantNM_015331.3(NCSTN):c.2008-7C>Anot provided [RCV003866570]likely benign1160358142160358142Humanname
405291048CV3203862single nucleotide variantNM_015331.3(NCSTN):c.1102-5C>ANCSTN-related disorder [RCV003927353]likely benign1160353155160353155Humanname , trait , alternate_id
408366644CV3512481single nucleotide variantNM_015331.3(NCSTN):c.1102-3C>ANCSTN-related disorder [RCV004756852]|not provided [RCV005103794]likely benign|uncertain significance1160353157160353157Human1name , trait , alternate_id
597895829CV3740358single nucleotide variantNM_015331.3(NCSTN):c.1101+8G>Tnot provided [RCV005071711]likely benign1160352999160352999Humanname
597959112CV3752033single nucleotide variantNM_015331.3(NCSTN):c.1179+8G>Anot provided [RCV005081163]likely benign1160353245160353245Humanname
597831843CV3759815single nucleotide variantNM_015331.3(NCSTN):c.190+18C>Anot provided [RCV005084753]likely benign1160344844160344844Humanname
597884626CV3816412single nucleotide variantNM_015331.3(NCSTN):c.1102-5C>Gnot provided [RCV005159473]likely benign1160353155160353155Humanname
597903345CV3826160single nucleotide variantNM_015331.3(NCSTN):c.582+18T>Cnot provided [RCV005177856]likely benign1160350268160350268Humanname
597895736CV3831381single nucleotide variantNM_015331.3(NCSTN):c.315-20G>Anot provided [RCV005170584]likely benign1160349529160349529Humanname
597891409CV3832087single nucleotide variantNM_015331.3(NCSTN):c.844-10T>Cnot provided [RCV005166343]likely benign1160352044160352044Humanname
597917891CV3840393deletionNM_015331.3(NCSTN):c.1102-3delnot provided [RCV005192877]benign1160353152160353152Humanname
597930437CV3861551single nucleotide variantNM_015331.3(NCSTN):c.2008-8C>Anot provided [RCV005204707]likely benign1160358141160358141Humanname
8568359CV39410single nucleotide variantNM_015331.3(NCSTN):c.1551+1G>AAcne inversa, familial, 1 [RCV000023406]pathogenic1160355959160355959Human1name
13462490CV439996single nucleotide variantNM_015331.3(NCSTN):c.1101+1G>AAcne inversa, familial, 1 [RCV000515754]pathogenic1160352992160352992Human1name
127305410CV1153316single nucleotide variantNM_015331.3(NCSTN):c.1101+13T>CAcne inversa, familial, 1 [RCV002501791]|not provided [RCV001516264]benign|likely benign1160353004160353004Human1name
151811323CV1350469single nucleotide variantNM_015331.3(NCSTN):c.1102-10C>AAcne inversa, familial, 1 [RCV005370141]|not provided [RCV002048881]likely benign|uncertain significance1160353150160353150Human1name
152044375CV1525569single nucleotide variantNM_015331.3(NCSTN):c.1795-16C>Tnot provided [RCV002126486]likely benign1160357025160357025Humanname
152058850CV1535972single nucleotide variantNM_015331.3(NCSTN):c.1180-12C>Tnot provided [RCV002146544]likely benign1160354106160354106Humanname
152068301CV1571155single nucleotide variantNM_015331.3(NCSTN):c.2007+15G>Anot provided [RCV002129267]likely benign1160357268160357268Humanname
152037755CV1605705single nucleotide variantNM_015331.3(NCSTN):c.1180-20A>Tnot provided [RCV002087497]likely benign1160354098160354098Humanname
152064601CV1612307single nucleotide variantNM_015331.3(NCSTN):c.1795-14C>Tnot provided [RCV002128793]likely benign1160357027160357027Humanname
152070521CV1628412single nucleotide variantNM_015331.3(NCSTN):c.1102-10C>Gnot provided [RCV002169227]likely benign1160353150160353150Humanname
152129870CV1630852single nucleotide variantNM_015331.3(NCSTN):c.1456-10C>Tnot provided [RCV002118942]likely benign1160355853160355853Humanname
152104962CV1633932single nucleotide variantNM_015331.3(NCSTN):c.1352+11C>Tnot provided [RCV002196030]likely benign1160354301160354301Humanname
152107771CV1634665single nucleotide variantNM_015331.3(NCSTN):c.1180-11G>Anot provided [RCV002079837]likely benign1160354107160354107Humanname
152074651CV1647563single nucleotide variantNM_015331.3(NCSTN):c.1353-19A>Tnot provided [RCV002210434]likely benign1160355636160355636Humanname
152041006CV1649298single nucleotide variantNM_015331.3(NCSTN):c.1551+20C>Tnot provided [RCV002206343]benign1160355978160355978Humanname
152052298CV1649950single nucleotide variantNM_015331.3(NCSTN):c.2007+17G>Tnot provided [RCV002167024]likely benign1160357270160357270Humanname
156383750CV1961061single nucleotide variantNM_015331.3(NCSTN):c.1552-13G>Cnot provided [RCV002583346]likely benign1160356247160356247Humanname
156343389CV1981675single nucleotide variantNM_015331.3(NCSTN):c.1353-14G>Anot provided [RCV002631546]likely benign1160355641160355641Humanname
156295679CV1995330single nucleotide variantNM_015331.3(NCSTN):c.1639+12G>Anot provided [RCV002670942]likely benign1160356359160356359Humanname
156380601CV1997973single nucleotide variantNM_015331.3(NCSTN):c.1456-12C>Tnot provided [RCV002653631]likely benign1160355851160355851Humanname
156140634CV2002726single nucleotide variantNM_015331.3(NCSTN):c.1456-17C>Anot provided [RCV002663555]likely benign1160355846160355846Humanname
155951081CV2013996single nucleotide variantNM_015331.3(NCSTN):c.1353-18T>Cnot provided [RCV002686026]likely benign1160355637160355637Humanname
156036879CV2089438single nucleotide variantNM_015331.3(NCSTN):c.1102-14C>Tnot provided [RCV002867282]likely benign1160353146160353146Humanname
155940889CV2110721single nucleotide variantNM_015331.3(NCSTN):c.1794+11G>Anot provided [RCV002904464]uncertain significance1160356765160356765Humanname
155937103CV2114259single nucleotide variantNM_015331.3(NCSTN):c.1552-14T>Cnot provided [RCV002904215]likely benign1160356246160356246Humanname
402492106CV2866810single nucleotide variantNM_015331.3(NCSTN):c.1456-11A>Gnot provided [RCV003573029]likely benign1160355852160355852Humanname
402486131CV2945113single nucleotide variantNM_015331.3(NCSTN):c.1640-19C>Anot provided [RCV003660090]likely benign1160356581160356581Humanname
405163208CV2951443single nucleotide variantNM_015331.3(NCSTN):c.2008-13C>Gnot provided [RCV003670813]likely benign1160358136160358136Humanname
405189044CV2974202single nucleotide variantNM_015331.3(NCSTN):c.2007+19A>Gnot provided [RCV003676982]likely benign1160357272160357272Humanname
402512826CV2991335single nucleotide variantNM_015331.3(NCSTN):c.1102-16T>Cnot provided [RCV003689693]likely benign1160353144160353144Humanname
405114083CV3133832single nucleotide variantNM_015331.3(NCSTN):c.1352+10A>Gnot provided [RCV003836627]likely benign1160354300160354300Humanname
405110201CV3136872single nucleotide variantNM_015331.3(NCSTN):c.2008-18C>Tnot provided [RCV003836026]likely benign1160358131160358131Humanname
405233604CV3145090single nucleotide variantNM_015331.3(NCSTN):c.1102-17C>Tnot provided [RCV003853347]likely benign1160353143160353143Humanname
405233361CV3167942single nucleotide variantNM_015331.3(NCSTN):c.1101+17C>Anot provided [RCV003865610]likely benign1160353008160353008Humanname
597865844CV3742402single nucleotide variantNM_015331.3(NCSTN):c.1456-20C>Tnot provided [RCV005068018]likely benign1160355843160355843Humanname
597929591CV3850648single nucleotide variantNM_015331.3(NCSTN):c.1795-11C>Gnot provided [RCV005203796]likely benign1160357030160357030Humanname
156385401CV1874853duplicationNM_015331.3(NCSTN):c.85+6_85+9dupnot provided [RCV003050818]likely benign1160343486160343487Humanname
151781127CV1426631duplicationNM_015331.3(NCSTN):c.314+2_314+4dupnot provided [RCV002009756]uncertain significance1160349123160349124Humanname
156052543CV1881777single nucleotide variantNM_015331.3(NCSTN):c.15G>T (p.Gly5=)not provided [RCV003078929]benign1160343411160343411Humanname
156148572CV2022954single nucleotide variantNM_015331.3(NCSTN):c.21C>G (p.Gly7=)not provided [RCV002741150]uncertain significance1160343417160343417Humanname
402512570CV2890187single nucleotide variantNM_015331.3(NCSTN):c.21C>T (p.Gly7=)not provided [RCV003580025]likely benign1160343417160343417Humanname
127245442CV1066396deletionNM_015331.3(NCSTN):c.996+10_996+17delnot provided [RCV001398722]likely benign1160352212160352219Humanname
151808899CV1374781deletionNM_015331.3(NCSTN):c.1102-5_1102-3delnot provided [RCV001933000]uncertain significance1160353152160353154Humanname
152076054CV1565406microsatelliteNM_015331.3(NCSTN):c.734-15_734-12delnot provided [RCV002148709]likely benign1160351677160351680Humanname
152148740CV1569112single nucleotide variantNM_015331.3(NCSTN):c.61C>T (p.Leu21=)not provided [RCV002220459]likely benign1160343457160343457Humanname
152161687CV1584552single nucleotide variantNM_015331.3(NCSTN):c.87T>C (p.Gly29=)not provided [RCV002123313]likely benign1160344723160344723Humanname
152090172CV1594007single nucleotide variantNM_015331.3(NCSTN):c.45G>C (p.Arg15=)not provided [RCV002171719]likely benign1160343441160343441Humanname
152061762CV1611247single nucleotide variantNM_015331.3(NCSTN):c.75C>T (p.Val25=)not provided [RCV002146857]likely benign1160343471160343471Humanname
152168619CV1626277single nucleotide variantNM_015331.3(NCSTN):c.54T>C (p.Leu18=)NCSTN-related disorder [RCV003941313]|not provided [RCV002182508]benign|likely benign1160343450160343450Human1name , trait , alternate_id
156337331CV1976945single nucleotide variantNM_015331.3(NCSTN):c.48T>G (p.Gly16=)not provided [RCV002601101]likely benign1160343444160343444Humanname
405189734CV3156745single nucleotide variantNM_015331.3(NCSTN):c.96G>A (p.Arg32=)not provided [RCV003859623]likely benign1160344732160344732Humanname
405270857CV3194103single nucleotide variantNM_015331.3(NCSTN):c.79C>T (p.Leu27=)NCSTN-related disorder [RCV003893685]|not provided [RCV005064706]likely benign1160343475160343475Human1name , trait , alternate_id
597847444CV3765413single nucleotide variantNM_015331.3(NCSTN):c.75C>G (p.Val25=)not provided [RCV005121057]likely benign1160343471160343471Humanname
597856176CV3863188single nucleotide variantNM_015331.3(NCSTN):c.42T>C (p.Ser14=)not provided [RCV005206714]likely benign1160343438160343438Humanname
13521197CV495062deletionNM_015331.3(NCSTN):c.17del (p.Gly6fs)not provided [RCV000599261]pathogenic1160343409160343409Humanname
127255272CV1088131single nucleotide variantNM_015331.3(NCSTN):c.159G>A (p.Leu53=)not provided [RCV001426517]likely benign1160344795160344795Humanname
127292057CV1153310single nucleotide variantNM_015331.3(NCSTN):c.210A>G (p.Thr70=)NCSTN-related disorder [RCV003931046]|not provided [RCV001510706]benign|likely benign1160349018160349018Human1name , trait , alternate_id
151751791CV1412262single nucleotide variantNM_015331.3(NCSTN):c.14G>A (p.Gly5Glu)not provided [RCV001927588]uncertain significance1160343410160343410Humanname
151734170CV1494435single nucleotide variantNM_015331.3(NCSTN):c.23C>T (p.Ser8Phe)not provided [RCV001946364]uncertain significance1160343419160343419Humanname
152028017CV1521187single nucleotide variantNM_015331.3(NCSTN):c.147C>T (p.Pro49=)not provided [RCV002085321]likely benign1160344783160344783Humanname
152170947CV1552484single nucleotide variantNM_015331.3(NCSTN):c.222C>T (p.His74=)not provided [RCV002143288]benign1160349030160349030Humanname
152118718CV1602646single nucleotide variantNM_015331.3(NCSTN):c.228A>G (p.Val76=)not provided [RCV002117559]likely benign1160349036160349036Humanname
152064056CV1612197single nucleotide variantNM_015331.3(NCSTN):c.165C>T (p.Asn55=)not provided [RCV002128719]likely benign1160344801160344801Humanname
156286366CV1884856single nucleotide variantNM_015331.3(NCSTN):c.108G>A (p.Val36=)not provided [RCV003061263]likely benign1160344744160344744Humanname
156375921CV1917598single nucleotide variantNM_015331.3(NCSTN):c.156C>T (p.Arg52=)not provided [RCV002603580]benign1160344792160344792Humanname
156216842CV2081715single nucleotide variantNM_015331.3(NCSTN):c.129C>G (p.Pro43=)not provided [RCV002894025]likely benign1160344765160344765Humanname
155940665CV2142910single nucleotide variantNM_015331.3(NCSTN):c.26G>A (p.Gly9Glu)not provided [RCV002994031]uncertain significance1160343422160343422Humanname
402510783CV2918591single nucleotide variantNM_015331.3(NCSTN):c.26G>C (p.Gly9Ala)not provided [RCV003565960]uncertain significance1160343422160343422Humanname
405239105CV2996977single nucleotide variantNM_015331.3(NCSTN):c.291G>T (p.Leu97=)not provided [RCV003718789]likely benign1160349099160349099Humanname
402475973CV3048670single nucleotide variantNM_015331.3(NCSTN):c.14G>T (p.Gly5Val)not provided [RCV003725404]uncertain significance1160343410160343410Humanname
405030098CV3129951single nucleotide variantNM_015331.3(NCSTN):c.289C>T (p.Leu97=)not provided [RCV003830550]uncertain significance1160349097160349097Humanname
597889863CV3823915single nucleotide variantNM_015331.3(NCSTN):c.117G>A (p.Lys39=)not provided [RCV005165335]likely benign1160344753160344753Humanname
15167202CV706789single nucleotide variantNM_015331.3(NCSTN):c.201T>C (p.Ser67=)not provided [RCV000971350]benign1160349009160349009Humanname
15162230CV718316single nucleotide variantNM_015331.3(NCSTN):c.237G>A (p.Glu79=)not provided [RCV000881719]benign1160349045160349045Humanname
127334019CV1130553single nucleotide variantNM_015331.3(NCSTN):c.816C>T (p.Asp272=)NCSTN-related disorder [RCV003948436]|not provided [RCV001490553]likely benign1160351778160351778Human1name , trait , alternate_id
127297285CV1153313single nucleotide variantNM_015331.3(NCSTN):c.747C>T (p.Asp249=)not provided [RCV001512822]benign1160351709160351709Humanname
127290229CV1153319deletionNM_015331.3(NCSTN):c.1352+20_1352+26delnot provided [RCV001509722]benign1160354306160354312Humanname
150330514CV1168551single nucleotide variantNM_015331.3(NCSTN):c.97G>A (p.Gly33Arg)Acne inversa, familial, 1 [RCV001535813]pathogenic1160344733160344733Human1name
151805921CV1372045single nucleotide variantNM_015331.3(NCSTN):c.49C>G (p.Leu17Val)not provided [RCV001953359]uncertain significance1160343445160343445Humanname
151713196CV1383908single nucleotide variantNM_015331.3(NCSTN):c.95G>T (p.Arg32Met)not provided [RCV001908428]uncertain significance1160344731160344731Humanname
151893060CV1411886single nucleotide variantNM_015331.3(NCSTN):c.86G>A (p.Gly29Asp)not provided [RCV001944727]uncertain significance1160344722160344722Humanname
151864239CV1431517single nucleotide variantNM_015331.3(NCSTN):c.73G>A (p.Val25Ile)not provided [RCV001924403]uncertain significance1160343469160343469Humanname
152046584CV1519640single nucleotide variantNM_015331.3(NCSTN):c.432G>A (p.Gly144=)not provided [RCV002145152]likely benign1160349666160349666Humanname
152159154CV1521967single nucleotide variantNM_015331.3(NCSTN):c.696G>A (p.Arg232=)not provided [RCV002180616]likely benign1160351335160351335Humanname
152121774CV1562559single nucleotide variantNM_015331.3(NCSTN):c.498G>A (p.Ser166=)not provided [RCV002098252]benign1160350166160350166Humanname
152067382CV1566831single nucleotide variantNM_015331.3(NCSTN):c.939A>G (p.Gln313=)not provided [RCV002091110]likely benign1160352149160352149Humanname
152103954CV1574700single nucleotide variantNM_015331.3(NCSTN):c.879A>G (p.Pro293=)not provided [RCV002095897]likely benign1160352089160352089Humanname
152083567CV1576842single nucleotide variantNM_015331.3(NCSTN):c.891C>T (p.Ser297=)not provided [RCV002193338]likely benign1160352101160352101Humanname
152160978CV1606083single nucleotide variantNM_015331.3(NCSTN):c.603G>A (p.Leu201=)not provided [RCV002180927]likely benign1160351242160351242Humanname
152152621CV1609790single nucleotide variantNM_015331.3(NCSTN):c.372C>A (p.Ser124=)not provided [RCV002179687]likely benign1160349606160349606Humanname
152034299CV1639426single nucleotide variantNM_015331.3(NCSTN):c.942G>A (p.Lys314=)not provided [RCV002187237]benign1160352152160352152Humanname
156373304CV1901877single nucleotide variantNM_015331.3(NCSTN):c.56G>A (p.Arg19His)Acne inversa, familial, 1 [RCV005399101]|not provided [RCV003092647]uncertain significance1160343452160343452Human1name
156439061CV1943929single nucleotide variantNM_015331.3(NCSTN):c.714C>T (p.Ser238=)not provided [RCV003109014]likely benign1160351353160351353Humanname
156168209CV1971622single nucleotide variantNM_015331.3(NCSTN):c.86G>T (p.Gly29Val)not provided [RCV002594692]uncertain significance1160344722160344722Humanname
156211587CV1983423single nucleotide variantNM_015331.3(NCSTN):c.399C>T (p.Gly133=)not provided [RCV002626097]likely benign1160349633160349633Humanname
156183232CV2020570single nucleotide variantNM_015331.3(NCSTN):c.738C>T (p.Ile246=)not provided [RCV002710848]likely benign1160351700160351700Humanname
156006136CV2041958single nucleotide variantNM_015331.3(NCSTN):c.98G>T (p.Gly33Val)not provided [RCV002756440]uncertain significance1160344734160344734Humanname
156287211CV2067920single nucleotide variantNM_015331.3(NCSTN):c.62T>C (p.Leu21Pro)not provided [RCV002856602]uncertain significance1160343458160343458Humanname
156248368CV2086314single nucleotide variantNM_015331.3(NCSTN):c.765T>C (p.Asn255=)not provided [RCV002876851]likely benign1160351727160351727Humanname
156115389CV2104604single nucleotide variantNM_015331.3(NCSTN):c.414A>G (p.Val138=)not provided [RCV002927603]likely benign1160349648160349648Humanname
156278441CV2137405single nucleotide variantNM_015331.3(NCSTN):c.82G>A (p.Ala28Thr)not provided [RCV003009512]uncertain significance1160343478160343478Humanname
156131462CV2152103single nucleotide variantNM_015331.3(NCSTN):c.729C>T (p.Asn243=)not provided [RCV003003373]likely benign1160351368160351368Humanname
405239765CV2980004single nucleotide variantNM_015331.3(NCSTN):c.339G>A (p.Gly113=)not provided [RCV003683802]likely benign1160349573160349573Humanname
405201691CV3041333single nucleotide variantNM_015331.3(NCSTN):c.960C>G (p.Thr320=)not provided [RCV003707445]likely benign1160352170160352170Humanname
405251041CV3053279single nucleotide variantNM_015331.3(NCSTN):c.861T>C (p.Phe287=)not provided [RCV003721790]likely benign1160352071160352071Humanname
402476071CV3060295single nucleotide variantNM_015331.3(NCSTN):c.55C>T (p.Arg19Cys)not provided [RCV003726532]uncertain significance1160343451160343451Humanname
402476953CV3070589single nucleotide variantNM_015331.3(NCSTN):c.52C>G (p.Leu18Val)not provided [RCV003734945]uncertain significance1160343448160343448Humanname
405118595CV3131087single nucleotide variantNM_015331.3(NCSTN):c.40A>G (p.Ser14Gly)not provided [RCV003837143]uncertain significance1160343436160343436Humanname
596924953CV3536836duplicationNM_015331.3(NCSTN):c.278dup (p.Tyr94fs)Acne inversa, familial, 1 [RCV004785830]likely pathogenic1160349080160349081Human1name
597850424CV3784834single nucleotide variantNM_015331.3(NCSTN):c.630C>T (p.Phe210=)not provided [RCV005125613]likely benign1160351269160351269Humanname
597855226CV3858497single nucleotide variantNM_015331.3(NCSTN):c.43C>G (p.Arg15Gly)not provided [RCV005197240]uncertain significance1160343439160343439Humanname
12896822CV389331single nucleotide variantNM_015331.3(NCSTN):c.636A>G (p.Leu212=)not provided [RCV001512821]|not specified [RCV000455870]benign1160351275160351275Humanname
598217851CV4003936single nucleotide variantNM_015331.3(NCSTN):c.56G>T (p.Arg19Leu)Inborn genetic diseases [RCV005379183]uncertain significance1160343452160343452Human1name
21071984CV794465deletionNM_015331.3(NCSTN):c.214del (p.Val72fs)not provided [RCV000994151]likely pathogenic1160349019160349019Humanname
127276402CV1088132single nucleotide variantNM_015331.3(NCSTN):c.1476G>A (p.Thr492=)not provided [RCV001432778]likely benign1160355883160355883Humanname
127240241CV1088133single nucleotide variantNM_015331.3(NCSTN):c.1614C>G (p.Leu538=)not provided [RCV001434189]likely benign1160356322160356322Humanname
127308190CV1153315single nucleotide variantNM_015331.3(NCSTN):c.1059C>T (p.Pro353=)not provided [RCV001517409]benign1160352949160352949Humanname
151830841CV1355827single nucleotide variantNM_015331.3(NCSTN):c.240G>T (p.Glu80Asp)not provided [RCV002030786]uncertain significance1160349048160349048Humanname
151813915CV1382870single nucleotide variantNM_015331.3(NCSTN):c.173A>G (p.His58Arg)not provided [RCV002049119]uncertain significance1160344809160344809Humanname
151851336CV1386137single nucleotide variantNM_015331.3(NCSTN):c.223G>A (p.Val75Ile)not provided [RCV001937391]uncertain significance1160349031160349031Humanname
151761327CV1400559single nucleotide variantNM_015331.3(NCSTN):c.283A>G (p.Met95Val)not provided [RCV002007898]uncertain significance1160349091160349091Humanname
151804353CV1429711single nucleotide variantNM_015331.3(NCSTN):c.145C>T (p.Pro49Ser)not provided [RCV001974201]uncertain significance1160344781160344781Humanname
151786807CV1478965single nucleotide variantNM_015331.3(NCSTN):c.1809A>G (p.Ser603=)not provided [RCV002046694]likely benign|uncertain significance1160357055160357055Humanname
151725066CV1496740single nucleotide variantNM_015331.3(NCSTN):c.124A>G (p.Ile42Val)not provided [RCV001910228]uncertain significance1160344760160344760Humanname
151873293CV1499521single nucleotide variantNM_015331.3(NCSTN):c.102C>G (p.Asn34Lys)Inborn genetic diseases [RCV002545763]|not provided [RCV001885548]uncertain significance1160344738160344738Human1name
151843537CV1510861single nucleotide variantNM_015331.3(NCSTN):c.112A>G (p.Arg38Gly)not provided [RCV001957046]uncertain significance1160344748160344748Humanname
152082241CV1525123single nucleotide variantNM_015331.3(NCSTN):c.1665C>T (p.Ile555=)not provided [RCV002130966]likely benign1160356625160356625Humanname
152122017CV1541342single nucleotide variantNM_015331.3(NCSTN):c.1383G>A (p.Glu461=)not provided [RCV002175705]likely benign1160355685160355685Humanname
152152200CV1565091single nucleotide variantNM_015331.3(NCSTN):c.2046C>T (p.Phe682=)not provided [RCV002102398]likely benign1160358187160358187Humanname
152175000CV1572828single nucleotide variantNM_015331.3(NCSTN):c.1332C>T (p.His444=)not provided [RCV002144633]likely benign1160354270160354270Humanname
152157401CV1573206single nucleotide variantNM_015331.3(NCSTN):c.1470G>C (p.Val490=)not provided [RCV002180317]benign1160355877160355877Humanname
152119437CV1589259single nucleotide variantNM_015331.3(NCSTN):c.2022A>G (p.Thr674=)not provided [RCV002216578]benign1160358163160358163Humanname
152036121CV1604395single nucleotide variantNM_015331.3(NCSTN):c.1092G>A (p.Glu364=)not provided [RCV002087234]likely benign1160352982160352982Humanname
152027918CV1607555single nucleotide variantNM_015331.3(NCSTN):c.200G>T (p.Ser67Ile)not provided [RCV002105057]likely benign1160349008160349008Humanname
152163467CV1619014single nucleotide variantNM_015331.3(NCSTN):c.1404C>T (p.Pro468=)not provided [RCV002123614]likely benign1160355706160355706Humanname
152114727CV1628104single nucleotide variantNM_015331.3(NCSTN):c.1917G>A (p.Gln639=)not provided [RCV002197246]likely benign1160357163160357163Humanname
152143068CV1640750single nucleotide variantNM_015331.3(NCSTN):c.1791G>A (p.Lys597=)not provided [RCV002178310]likely benign1160356751160356751Humanname
152144097CV1651603single nucleotide variantNM_015331.3(NCSTN):c.2031C>T (p.Phe677=)Inborn genetic diseases [RCV004651956]|not provided [RCV002138552]likely benign1160358172160358172Human1name
152173340CV1653052single nucleotide variantNM_015331.3(NCSTN):c.1644C>T (p.Asp548=)not provided [RCV002144072]likely benign1160356604160356604Humanname
152050065CV1657135single nucleotide variantNM_015331.3(NCSTN):c.1119A>G (p.Ser373=)not provided [RCV002189299]likely benign1160353177160353177Humanname
152033003CV1657670single nucleotide variantNM_015331.3(NCSTN):c.1371C>T (p.Tyr457=)not provided [RCV002187005]likely benign1160355673160355673Humanname
156041664CV1891085single nucleotide variantNM_015331.3(NCSTN):c.2058C>T (p.Val686=)not provided [RCV003078541]likely benign1160358199160358199Humanname
155962247CV1931643single nucleotide variantNM_015331.3(NCSTN):c.1515C>T (p.Thr505=)not provided [RCV002616790]likely benign1160355922160355922Humanname
156419907CV1967699single nucleotide variantNM_015331.3(NCSTN):c.1350C>T (p.Asn450=)not provided [RCV002613154]likely benign1160354288160354288Humanname
156279768CV1967855single nucleotide variantNM_015331.3(NCSTN):c.142G>T (p.Ala48Ser)Inborn genetic diseases [RCV004065684]|not provided [RCV002598358]uncertain significance1160344778160344778Human1name
155912844CV1980312single nucleotide variantNM_015331.3(NCSTN):c.1299T>C (p.Ala433=)not provided [RCV002614115]likely benign1160354237160354237Humanname
156335007CV1988193single nucleotide variantNM_015331.3(NCSTN):c.273C>A (p.Asn91Lys)not provided [RCV002631138]uncertain significance1160349081160349081Humanname
156273995CV2004321single nucleotide variantNM_015331.3(NCSTN):c.1035C>T (p.Tyr345=)not provided [RCV002646625]likely benign1160352925160352925Humanname
156058259CV2008112single nucleotide variantNM_015331.3(NCSTN):c.200G>C (p.Ser67Thr)Inborn genetic diseases [RCV004066925]|not provided [RCV002705295]uncertain significance1160349008160349008Human1name
155962078CV2023747single nucleotide variantNM_015331.3(NCSTN):c.2055C>T (p.Ile685=)not provided [RCV002731223]likely benign1160358196160358196Humanname
156237708CV2047055single nucleotide variantNM_015331.3(NCSTN):c.1171C>A (p.Arg391=)not provided [RCV002805558]uncertain significance1160353229160353229Humanname
156136865CV2048145single nucleotide variantNM_015331.3(NCSTN):c.1875A>G (p.Ala625=)not provided [RCV002800814]likely benign1160357121160357121Humanname
155981843CV2078486single nucleotide variantNM_015331.3(NCSTN):c.1464A>T (p.Ala488=)not provided [RCV002863807]uncertain significance1160355871160355871Humanname
155956701CV2087028single nucleotide variantNM_015331.3(NCSTN):c.1974C>G (p.Ala658=)not provided [RCV002862644]likely benign1160357220160357220Humanname
156234299CV2093970single nucleotide variantNM_015331.3(NCSTN):c.1662C>T (p.Tyr554=)not provided [RCV002894672]likely benign1160356622160356622Humanname
156385513CV2125475single nucleotide variantNM_015331.3(NCSTN):c.1479G>A (p.Val493=)not provided [RCV002943455]likely benign1160355886160355886Humanname
155934137CV2129378single nucleotide variantNM_015331.3(NCSTN):c.222C>G (p.His74Gln)not provided [RCV002970811]uncertain significance1160349030160349030Humanname
156315835CV2140247single nucleotide variantNM_015331.3(NCSTN):c.166G>A (p.Ala56Thr)not provided [RCV003011380]uncertain significance1160344802160344802Humanname
156212200CV2170938single nucleotide variantNM_015331.3(NCSTN):c.1797G>A (p.Leu599=)not provided [RCV003042375]likely benign1160357043160357043Humanname
156014559CV2177348single nucleotide variantNM_015331.3(NCSTN):c.214G>A (p.Val72Ile)not provided [RCV003035418]uncertain significance1160349022160349022Humanname
402515074CV2855396single nucleotide variantNM_015331.3(NCSTN):c.214G>T (p.Val72Phe)not provided [RCV003547200]uncertain significance1160349022160349022Humanname
402499332CV2871990single nucleotide variantNM_015331.3(NCSTN):c.1941A>G (p.Thr647=)not provided [RCV003545738]likely benign1160357187160357187Humanname
405193149CV2872260single nucleotide variantNM_015331.3(NCSTN):c.1695T>C (p.Tyr565=)not provided [RCV003550594]likely benign1160356655160356655Humanname
405227286CV2898407single nucleotide variantNM_015331.3(NCSTN):c.1122A>G (p.Leu374=)not provided [RCV003554886]likely benign1160353180160353180Humanname
402499537CV2922892single nucleotide variantNM_015331.3(NCSTN):c.1047G>A (p.Lys349=)not provided [RCV003573845]likely benign1160352937160352937Humanname
402518768CV2936566single nucleotide variantNM_015331.3(NCSTN):c.2043C>T (p.Ile681=)not provided [RCV003663090]likely benign1160358184160358184Humanname
405080853CV2945631single nucleotide variantNM_015331.3(NCSTN):c.248A>G (p.Gln83Arg)not provided [RCV003664580]uncertain significance1160349056160349056Humanname
405100584CV2947995single nucleotide variantNM_015331.3(NCSTN):c.2079A>G (p.Lys693=)not provided [RCV003666032]likely benign1160358220160358220Humanname
405169816CV2951203single nucleotide variantNM_015331.3(NCSTN):c.1885A>C (p.Arg629=)not provided [RCV003675327]likely benign1160357131160357131Humanname
405238574CV2996771single nucleotide variantNM_015331.3(NCSTN):c.1479G>T (p.Val493=)not provided [RCV003718692]likely benign1160355886160355886Humanname
405127562CV3013842single nucleotide variantNM_015331.3(NCSTN):c.177G>C (p.Gln59His)not provided [RCV003701360]uncertain significance1160344813160344813Humanname
405116002CV3020057single nucleotide variantNM_015331.3(NCSTN):c.2008T>C (p.Leu670=)not provided [RCV003700246]uncertain significance1160358149160358149Humanname
405118300CV3020355single nucleotide variantNM_015331.3(NCSTN):c.1731A>G (p.Thr577=)not provided [RCV003700390]likely benign1160356691160356691Humanname
405141176CV3029843single nucleotide variantNM_015331.3(NCSTN):c.259A>G (p.Thr87Ala)not provided [RCV003702445]uncertain significance1160349067160349067Humanname
405183743CV3040126single nucleotide variantNM_015331.3(NCSTN):c.1248A>G (p.Pro416=)not provided [RCV003705804]likely benign1160354186160354186Humanname
405174469CV3052555single nucleotide variantNM_015331.3(NCSTN):c.128C>T (p.Pro43Leu)not provided [RCV003728175]uncertain significance1160344764160344764Humanname
405181776CV3057378single nucleotide variantNM_015331.3(NCSTN):c.1563G>T (p.Leu521=)not provided [RCV003728852]likely benign1160356271160356271Humanname
405240968CV3060877single nucleotide variantNM_015331.3(NCSTN):c.2040C>T (p.Leu680=)not provided [RCV003737186]likely benign1160358181160358181Humanname
405213037CV3078141single nucleotide variantNM_015331.3(NCSTN):c.230A>G (p.Glu77Gly)not provided [RCV003732273]uncertain significance1160349038160349038Humanname
405179299CV3119752single nucleotide variantNM_015331.3(NCSTN):c.1923C>T (p.Ser641=)not provided [RCV003819845]likely benign1160357169160357169Humanname
405035743CV3140501single nucleotide variantNM_015331.3(NCSTN):c.1506A>G (p.Ala502=)not provided [RCV003830983]likely benign1160355913160355913Humanname
405227255CV3142864single nucleotide variantNM_015331.3(NCSTN):c.1434C>T (p.Asn478=)not provided [RCV003848207]likely benign1160355736160355736Humanname
405202553CV3143644single nucleotide variantNM_015331.3(NCSTN):c.1251T>C (p.Asn417=)not provided [RCV003844630]likely benign1160354189160354189Humanname
405220175CV3154372single nucleotide variantNM_015331.3(NCSTN):c.1206G>A (p.Glu402=)not provided [RCV003847064]likely benign1160354144160354144Humanname
405208782CV3162509single nucleotide variantNM_015331.3(NCSTN):c.285G>A (p.Met95Ile)not provided [RCV003861808]uncertain significance1160349093160349093Humanname
405205688CV3165633single nucleotide variantNM_015331.3(NCSTN):c.1191C>T (p.Leu397=)not provided [RCV003861299]likely benign1160354129160354129Humanname
402470382CV3171133single nucleotide variantNM_015331.3(NCSTN):c.1803G>A (p.Glu601=)not provided [RCV003874096]likely benign1160357049160357049Humanname
402476083CV3173742single nucleotide variantNM_015331.3(NCSTN):c.295G>A (p.Glu99Lys)not provided [RCV003875280]uncertain significance1160349103160349103Humanname
404992176CV3176308single nucleotide variantNM_015331.3(NCSTN):c.1800T>C (p.Tyr600=)not provided [RCV003881740]likely benign1160357046160357046Humanname
405253019CV3178173single nucleotide variantNM_015331.3(NCSTN):c.1201T>C (p.Leu401=)not provided [RCV003870953]likely benign1160354139160354139Humanname
405256072CV3208584single nucleotide variantNM_015331.3(NCSTN):c.1974C>A (p.Ala658=)NCSTN-related disorder [RCV003939659]likely benign1160357220160357220Humanname , trait , alternate_id
597720468CV3558879single nucleotide variantNM_015331.3(NCSTN):c.121T>C (p.Tyr41His)Inborn genetic diseases [RCV004961435]uncertain significance1160344757160344757Human1name
597864823CV3742240single nucleotide variantNM_015331.3(NCSTN):c.1284G>A (p.Gln428=)not provided [RCV005067856]likely benign1160354222160354222Humanname
597855412CV3781050single nucleotide variantNM_015331.3(NCSTN):c.296A>G (p.Glu99Gly)not provided [RCV005129932]uncertain significance1160349104160349104Humanname
597867035CV3802007single nucleotide variantNM_015331.3(NCSTN):c.277C>G (p.Pro93Ala)not provided [RCV005141799]uncertain significance1160349085160349085Humanname
597872857CV3802983single nucleotide variantNM_015331.3(NCSTN):c.222C>A (p.His74Gln)not provided [RCV005147770]uncertain significance1160349030160349030Humanname
597878891CV3806582single nucleotide variantNM_015331.3(NCSTN):c.1473C>T (p.Ala491=)not provided [RCV005154149]likely benign1160355880160355880Humanname
597903097CV3825756single nucleotide variantNM_015331.3(NCSTN):c.196A>G (p.Ile66Val)not provided [RCV005177630]uncertain significance1160349004160349004Humanname
597912588CV3837075single nucleotide variantNM_015331.3(NCSTN):c.136A>G (p.Lys46Glu)not provided [RCV005187906]uncertain significance1160344772160344772Humanname
597916804CV3838337single nucleotide variantNM_015331.3(NCSTN):c.1023G>A (p.Ser341=)not provided [RCV005191712]likely benign1160352913160352913Humanname
597913657CV3844186single nucleotide variantNM_015331.3(NCSTN):c.1524C>T (p.Ser508=)not provided [RCV005188795]likely benign1160355931160355931Humanname
597930051CV3851635single nucleotide variantNM_015331.3(NCSTN):c.1317T>C (p.Val439=)not provided [RCV005204396]likely benign1160354255160354255Humanname
15193047CV696209single nucleotide variantNM_015331.3(NCSTN):c.1314C>T (p.Gly438=)not provided [RCV000955257]benign1160354252160354252Humanname
15126681CV706790single nucleotide variantNM_015331.3(NCSTN):c.231G>C (p.Glu77Asp)not provided [RCV000963781]benign1160349039160349039Humanname
15202066CV718317single nucleotide variantNM_015331.3(NCSTN):c.1083A>G (p.Ser361=)not provided [RCV000891371]benign1160352973160352973Humanname
15142935CV731809single nucleotide variantNM_015331.3(NCSTN):c.1710C>T (p.Ala570=)not provided [RCV000899755]benign1160356670160356670Humanname
15165483CV745786single nucleotide variantNM_015331.3(NCSTN):c.1938T>A (p.Ser646=)not provided [RCV000926634]likely benign1160357184160357184Humanname
126747560CV1002255single nucleotide variantNM_015331.3(NCSTN):c.619G>C (p.Ala207Pro)not provided [RCV001326172]uncertain significance1160351258160351258Humanname
151778486CV1337107single nucleotide variantNM_015331.3(NCSTN):c.766G>T (p.Val256Leu)not provided [RCV002026033]uncertain significance1160351728160351728Humanname
151891096CV1346902single nucleotide variantNM_015331.3(NCSTN):c.892G>A (p.Ala298Thr)Inborn genetic diseases [RCV004044822]|not provided [RCV002039004]uncertain significance1160352102160352102Human1name
151735143CV1354669single nucleotide variantNM_015331.3(NCSTN):c.694C>T (p.Arg232Trp)not provided [RCV001892667]uncertain significance1160351333160351333Humanname
151772964CV1357418single nucleotide variantNM_015331.3(NCSTN):c.739G>A (p.Val247Ile)not provided [RCV001864253]uncertain significance1160351701160351701Humanname
151750702CV1359133single nucleotide variantNM_015331.3(NCSTN):c.469G>T (p.Ala157Ser)not provided [RCV001969161]uncertain significance1160350137160350137Humanname
151746737CV1375017single nucleotide variantNM_015331.3(NCSTN):c.367G>A (p.Val123Met)Inborn genetic diseases [RCV002557702]|not provided [RCV001947679]uncertain significance1160349601160349601Human1name
151883419CV1384212single nucleotide variantNM_015331.3(NCSTN):c.436G>A (p.Gly146Ser)not provided [RCV001886938]uncertain significance1160349670160349670Humanname
151712298CV1386975single nucleotide variantNM_015331.3(NCSTN):c.448A>T (p.Asn150Tyr)not provided [RCV001964538]uncertain significance1160350116160350116Humanname
151728044CV1388561single nucleotide variantNM_015331.3(NCSTN):c.392C>T (p.Ala131Val)not provided [RCV001966826]uncertain significance1160349626160349626Humanname
151767338CV1393962single nucleotide variantNM_015331.3(NCSTN):c.670G>A (p.Val224Ile)not provided [RCV002008511]uncertain significance1160351309160351309Humanname
151754348CV1405590single nucleotide variantNM_015331.3(NCSTN):c.695G>A (p.Arg232Gln)not provided [RCV001927836]uncertain significance1160351334160351334Humanname
151887801CV1409132single nucleotide variantNM_015331.3(NCSTN):c.313A>T (p.Arg105Trp)Inborn genetic diseases [RCV004953202]|not provided [RCV001942464]uncertain significance1160349121160349121Human1name
151819403CV1415968single nucleotide variantNM_015331.3(NCSTN):c.350G>A (p.Arg117Gln)not provided [RCV001919415]uncertain significance1160349584160349584Humanname
151781303CV1422093single nucleotide variantNM_015331.3(NCSTN):c.364G>A (p.Ala122Thr)not provided [RCV001972107]uncertain significance1160349598160349598Humanname
151872483CV1426265single nucleotide variantNM_015331.3(NCSTN):c.645G>A (p.Met215Ile)not provided [RCV002019132]uncertain significance1160351284160351284Humanname
151762841CV1456144single nucleotide variantNM_015331.3(NCSTN):c.436G>C (p.Gly146Arg)not provided [RCV002044479]uncertain significance1160349670160349670Humanname
151876949CV1460113single nucleotide variantNM_015331.3(NCSTN):c.968G>A (p.Arg323His)not provided [RCV002036371]uncertain significance1160352178160352178Humanname
151876783CV1461445single nucleotide variantNM_015331.3(NCSTN):c.481G>C (p.Glu161Gln)not provided [RCV001925918]uncertain significance1160350149160350149Humanname
151716093CV1470526deletionNM_015331.3(NCSTN):c.1290del (p.Leu431fs)not provided [RCV001908984]pathogenic1160354226160354226Humanname
151794487CV1482725single nucleotide variantNM_015331.3(NCSTN):c.976A>G (p.Met326Val)not provided [RCV002047413]uncertain significance1160352186160352186Humanname
151835810CV1489336single nucleotide variantNM_015331.3(NCSTN):c.967C>T (p.Arg323Cys)NCSTN-related disorder [RCV003394303]|not provided [RCV001902280]uncertain significance1160352177160352177Human1name , trait , alternate_id
152119073CV1558357single nucleotide variantNM_015331.3(NCSTN):c.842G>A (p.Arg281Gln)not provided [RCV002135472]likely benign1160351804160351804Humanname
156416495CV1905266single nucleotide variantNM_015331.3(NCSTN):c.836C>T (p.Ala279Val)not provided [RCV002610205]uncertain significance1160351798160351798Humanname
156295259CV1923060single nucleotide variantNM_015331.3(NCSTN):c.959C>A (p.Thr320Asn)not provided [RCV002647375]uncertain significance1160352169160352169Humanname
156068214CV1971923single nucleotide variantNM_015331.3(NCSTN):c.506A>G (p.Asn169Ser)Inborn genetic diseases [RCV004065746]|not provided [RCV002621165]uncertain significance1160350174160350174Human1name
156327221CV1972797single nucleotide variantNM_015331.3(NCSTN):c.883G>T (p.Ala295Ser)not provided [RCV002600596]uncertain significance1160352093160352093Humanname
156009858CV1989655single nucleotide variantNM_015331.3(NCSTN):c.915G>T (p.Gln305His)Inborn genetic diseases [RCV005375125]|not provided [RCV002636163]uncertain significance1160352125160352125Human1name
156355100CV2008839single nucleotide variantNM_015331.3(NCSTN):c.418T>G (p.Cys140Gly)not provided [RCV002720468]uncertain significance1160349652160349652Humanname
156119957CV2039804single nucleotide variantNM_015331.3(NCSTN):c.465G>T (p.Glu155Asp)not provided [RCV002785750]uncertain significance1160350133160350133Humanname
156183321CV2058890single nucleotide variantNM_015331.3(NCSTN):c.538A>G (p.Ile180Val)not provided [RCV002828374]uncertain significance1160350206160350206Humanname
156224684CV2121748single nucleotide variantNM_015331.3(NCSTN):c.316G>A (p.Asp106Asn)not provided [RCV002958280]uncertain significance1160349550160349550Humanname
156400321CV2199106single nucleotide variantNM_015331.3(NCSTN):c.518A>G (p.Tyr173Cys)Inborn genetic diseases [RCV002656452]|not provided [RCV003777606]uncertain significance1160350186160350186Human1name
156196715CV2259204single nucleotide variantNM_015331.3(NCSTN):c.431G>A (p.Gly144Glu)Inborn genetic diseases [RCV002803192]uncertain significance1160349665160349665Human1name
156043948CV2307964single nucleotide variantNM_015331.3(NCSTN):c.377C>T (p.Thr126Ile)Inborn genetic diseases [RCV002910807]uncertain significance1160349611160349611Human1name
401933102CV2806110single nucleotide variantNM_015331.3(NCSTN):c.715A>C (p.Thr239Pro)not provided [RCV003409196]uncertain significance1160351354160351354Humanname
402498789CV2871917single nucleotide variantNM_015331.3(NCSTN):c.977T>C (p.Met326Thr)not provided [RCV003545689]uncertain significance1160352187160352187Humanname
402505485CV2884438single nucleotide variantNM_015331.3(NCSTN):c.782A>G (p.Lys261Arg)not provided [RCV003546319]uncertain significance1160351744160351744Humanname
405223725CV2887591single nucleotide variantNM_015331.3(NCSTN):c.607C>G (p.Gln203Glu)not provided [RCV003554312]uncertain significance1160351246160351246Humanname
404998592CV3008892single nucleotide variantNM_015331.3(NCSTN):c.898G>T (p.Ala300Ser)not provided [RCV003692953]uncertain significance1160352108160352108Humanname
405126396CV3053519single nucleotide variantNM_015331.3(NCSTN):c.467T>G (p.Phe156Cys)not provided [RCV003724413]uncertain significance1160350135160350135Humanname
405216529CV3055670single nucleotide variantNM_015331.3(NCSTN):c.455A>G (p.Tyr152Cys)Inborn genetic diseases [RCV004374084]|not provided [RCV003732726]uncertain significance1160350123160350123Human1name
405210861CV3059060single nucleotide variantNM_015331.3(NCSTN):c.787A>G (p.Ile263Val)Inborn genetic diseases [RCV004374227]|not provided [RCV003731987]uncertain significance1160351749160351749Human1name
405024568CV3075895single nucleotide variantNM_015331.3(NCSTN):c.461C>T (p.Pro154Leu)not provided [RCV003738683]uncertain significance1160350129160350129Humanname
405026891CV3076007single nucleotide variantNM_015331.3(NCSTN):c.574A>G (p.Ile192Val)not provided [RCV003738852]uncertain significance1160350242160350242Humanname
405213044CV3078142single nucleotide variantNM_015331.3(NCSTN):c.323T>C (p.Met108Thr)not provided [RCV003732274]uncertain significance1160349557160349557Humanname
405196726CV3138741single nucleotide variantNM_015331.3(NCSTN):c.892G>T (p.Ala298Ser)not provided [RCV003821557]uncertain significance1160352102160352102Humanname
405231593CV3157431single nucleotide variantNM_015331.3(NCSTN):c.778C>A (p.Leu260Ile)not provided [RCV003865381]uncertain significance1160351740160351740Humanname
402464335CV3172621single nucleotide variantNM_015331.3(NCSTN):c.497C>T (p.Ser166Leu)not provided [RCV003872559]uncertain significance1160350165160350165Humanname
405814404CV3341288single nucleotide variantNM_015331.3(NCSTN):c.724A>G (p.Ile242Val)Inborn genetic diseases [RCV004484363]uncertain significance1160351363160351363Human1name
597720436CV3558873single nucleotide variantNM_015331.3(NCSTN):c.929A>C (p.Glu310Ala)Inborn genetic diseases [RCV004961430]uncertain significance1160352139160352139Human1name
597720450CV3558876single nucleotide variantNM_015331.3(NCSTN):c.704C>A (p.Ser235Tyr)Inborn genetic diseases [RCV004961432]uncertain significance1160351343160351343Human1name
597720462CV3558878single nucleotide variantNM_015331.3(NCSTN):c.586T>C (p.Tyr196His)Inborn genetic diseases [RCV004961434]uncertain significance1160351225160351225Human1name
597898547CV3740836single nucleotide variantNM_015331.3(NCSTN):c.454T>C (p.Tyr152His)not provided [RCV005071999]uncertain significance1160350122160350122Humanname
597863676CV3800352single nucleotide variantNM_015331.3(NCSTN):c.864C>A (p.Phe288Leu)not provided [RCV005137444]uncertain significance1160352074160352074Humanname
597884374CV3815580single nucleotide variantNM_015331.3(NCSTN):c.517T>C (p.Tyr173His)not provided [RCV005159269]uncertain significance1160350185160350185Humanname
597873670CV3816839single nucleotide variantNM_015331.3(NCSTN):c.881G>A (p.Gly294Glu)not provided [RCV005148892]uncertain significance1160352091160352091Humanname
597896963CV3825236single nucleotide variantNM_015331.3(NCSTN):c.400T>C (p.Phe134Leu)not provided [RCV005171919]uncertain significance1160349634160349634Humanname
8568358CV39409deletionNM_015331.3(NCSTN):c.1752del (p.Glu584fs)Acne inversa, familial, 1 [RCV000023405]pathogenic1160356712160356712Human1name
8602220CV39411single nucleotide variantNM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)Acne inversa, familial, 1 [RCV000023407]pathogenic1160349583160349583Human1name
13783917CV550576single nucleotide variantNM_015331.3(NCSTN):c.944C>T (p.Ala315Val)Acne inversa, familial, 1 [RCV000677636]|not provided [RCV003558532]likely pathogenic|uncertain significance1160352154160352154Human1name
126749146CV1002257single nucleotide variantNM_015331.3(NCSTN):c.1145C>A (p.Pro382His)not provided [RCV001315669]uncertain significance1160353203160353203Humanname
126731614CV1002258single nucleotide variantNM_015331.3(NCSTN):c.1841C>T (p.Thr614Met)not provided [RCV001313073]uncertain significance1160357087160357087Humanname
127319703CV1153318single nucleotide variantNM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr)Acne inversa, familial, 1 [RCV002501843]|NCSTN-related disorder [RCV003931136]|not provided [RCV001522257]benign|likely benign1160354187160354187Human1name , trait , alternate_id
150330515CV1168552single nucleotide variantNM_015331.3(NCSTN):c.1285C>T (p.Arg429Ter)Acne inversa, familial, 1 [RCV001535814]pathogenic1160354223160354223Human1name
151349346CV1170140single nucleotide variantNM_015331.3(NCSTN):c.1635C>G (p.Tyr545Ter)Abnormality of the skin [RCV001814539]pathogenic1160356343160356343Human1name
151870992CV1340430single nucleotide variantNM_015331.3(NCSTN):c.1739A>G (p.Asn580Ser)Inborn genetic diseases [RCV003365543]|not provided [RCV001939797]uncertain significance1160356699160356699Human1name
151831392CV1343631single nucleotide variantNM_015331.3(NCSTN):c.1099C>G (p.Gln367Glu)not provided [RCV001920526]uncertain significance1160352989160352989Humanname
151856746CV1347820single nucleotide variantNM_015331.3(NCSTN):c.1298C>T (p.Ala433Val)not provided [RCV001979618]uncertain significance1160354236160354236Humanname
151813130CV1355630single nucleotide variantNM_015331.3(NCSTN):c.1393G>A (p.Val465Met)not provided [RCV002012640]uncertain significance1160355695160355695Humanname
151844492CV1363459single nucleotide variantNM_015331.3(NCSTN):c.2080G>A (p.Ala694Thr)not provided [RCV002032224]uncertain significance1160358221160358221Humanname
151862565CV1365107single nucleotide variantNM_015331.3(NCSTN):c.1315G>A (p.Val439Ile)not provided [RCV002017939]uncertain significance1160354253160354253Humanname
151852506CV1376084single nucleotide variantNM_015331.3(NCSTN):c.1856G>A (p.Arg619Gln)not provided [RCV001996145]uncertain significance1160357102160357102Humanname
151738928CV1379274single nucleotide variantNM_015331.3(NCSTN):c.1213G>C (p.Gly405Arg)Inborn genetic diseases [RCV005374881]|not provided [RCV001911734]uncertain significance1160354151160354151Human1name
151776818CV1381717single nucleotide variantNM_015331.3(NCSTN):c.2053A>G (p.Ile685Val)not provided [RCV001950690]uncertain significance1160358194160358194Humanname
151712113CV1401666single nucleotide variantNM_015331.3(NCSTN):c.1513A>G (p.Thr505Ala)not provided [RCV001964508]uncertain significance1160355920160355920Humanname
151762996CV1407475single nucleotide variantNM_015331.3(NCSTN):c.1301G>A (p.Arg434Gln)not provided [RCV002044495]uncertain significance1160354239160354239Humanname
151770285CV1410766single nucleotide variantNM_015331.3(NCSTN):c.2056G>A (p.Val686Ile)not provided [RCV001971116]uncertain significance1160358197160358197Humanname
151773903CV1424140single nucleotide variantNM_015331.3(NCSTN):c.1414A>T (p.Ser472Cys)not provided [RCV002045507]uncertain significance1160355716160355716Humanname
151889539CV1436037single nucleotide variantNM_015331.3(NCSTN):c.1229C>T (p.Ala410Val)not provided [RCV001963449]uncertain significance1160354167160354167Humanname
151825014CV1442711single nucleotide variantNM_015331.3(NCSTN):c.1025G>A (p.Arg342Lys)not provided [RCV002013757]uncertain significance1160352915160352915Humanname
151882421CV1443206single nucleotide variantNM_015331.3(NCSTN):c.1225C>G (p.Pro409Ala)not provided [RCV002037136]uncertain significance1160354163160354163Humanname
151786199CV1456229single nucleotide variantNM_015331.3(NCSTN):c.1501C>G (p.Leu501Val)not provided [RCV002046632]uncertain significance1160355908160355908Humanname
151714620CV1457761single nucleotide variantNM_015331.3(NCSTN):c.1071G>C (p.Glu357Asp)not provided [RCV001964977]uncertain significance1160352961160352961Humanname
151725111CV1462043single nucleotide variantNM_015331.3(NCSTN):c.1237C>T (p.Leu413Phe)not provided [RCV001966489]uncertain significance1160354175160354175Humanname
151892395CV1481009single nucleotide variantNM_015331.3(NCSTN):c.2087T>G (p.Val696Gly)not provided [RCV001944068]uncertain significance1160358228160358228Humanname
151877682CV1481103single nucleotide variantNM_015331.3(NCSTN):c.1991C>G (p.Ala664Gly)not provided [RCV001982113]uncertain significance1160357237160357237Humanname
151892461CV1481145single nucleotide variantNM_015331.3(NCSTN):c.1286G>A (p.Arg429Gln)not provided [RCV001944137]uncertain significance1160354224160354224Humanname
151846305CV1501762single nucleotide variantNM_015331.3(NCSTN):c.1571G>A (p.Gly524Glu)not provided [RCV002015957]uncertain significance1160356279160356279Humanname
151710311CV1502195single nucleotide variantNM_015331.3(NCSTN):c.1327G>C (p.Asp443His)not provided [RCV001907860]uncertain significance1160354265160354265Humanname
151774132CV1505016single nucleotide variantNM_015331.3(NCSTN):c.1172G>A (p.Arg391Gln)Inborn genetic diseases [RCV005382325]|not provided [RCV002009131]likely benign|uncertain significance1160353230160353230Human1name
151728602CV1505261single nucleotide variantNM_015331.3(NCSTN):c.1856G>T (p.Arg619Leu)not provided [RCV002021062]uncertain significance1160357102160357102Humanname
151732096CV1512233single nucleotide variantNM_015331.3(NCSTN):c.1163A>G (p.Glu388Gly)not provided [RCV002021407]uncertain significance1160353221160353221Humanname
151889298CV1516208single nucleotide variantNM_015331.3(NCSTN):c.1070A>G (p.Glu357Gly)Acne inversa, familial, 1 [RCV005397283]|not provided [RCV002038575]uncertain significance1160352960160352960Human1name
151869008CV1516716single nucleotide variantNM_015331.3(NCSTN):c.1171C>T (p.Arg391Trp)not provided [RCV001981060]uncertain significance1160353229160353229Humanname
151870058CV1516859single nucleotide variantNM_015331.3(NCSTN):c.1387A>G (p.Ile463Val)not provided [RCV001981178]uncertain significance1160355689160355689Humanname
151756380CV1517076single nucleotide variantNM_015331.3(NCSTN):c.1893G>C (p.Leu631Phe)not provided [RCV002043784]uncertain significance1160357139160357139Humanname
152109225CV1556488single nucleotide variantNM_015331.3(NCSTN):c.1199C>T (p.Thr400Ile)Inborn genetic diseases [RCV003015317]|not provided [RCV002096616]likely benign|uncertain significance1160354137160354137Human1name
152103821CV1645361single nucleotide variantNM_015331.3(NCSTN):c.2104C>T (p.Arg702Trp)not provided [RCV002133598]benign1160358245160358245Humanname
156412600CV1886778single nucleotide variantNM_015331.3(NCSTN):c.2072A>G (p.Asn691Ser)not provided [RCV003072960]uncertain significance1160358213160358213Humanname
156229301CV1955922single nucleotide variantNM_015331.3(NCSTN):c.1081T>G (p.Ser361Ala)not provided [RCV002575811]uncertain significance1160352971160352971Humanname
156170442CV1956244single nucleotide variantNM_015331.3(NCSTN):c.1310C>T (p.Ser437Phe)Inborn genetic diseases [RCV003250513]|not provided [RCV002573795]uncertain significance1160354248160354248Human1name
156414858CV1983045single nucleotide variantNM_015331.3(NCSTN):c.2101C>T (p.Pro701Ser)Inborn genetic diseases [RCV004065817]|not provided [RCV002609398]uncertain significance1160358242160358242Human1name
156209537CV1987062single nucleotide variantNM_015331.3(NCSTN):c.1666G>A (p.Ala556Thr)not provided [RCV002626027]uncertain significance1160356626160356626Humanname
156077675CV2011863single nucleotide variantNM_015331.3(NCSTN):c.1490C>T (p.Ala497Val)Inborn genetic diseases [RCV005382459]|not provided [RCV002705885]uncertain significance1160355897160355897Human1name
156195217CV2024312single nucleotide variantNM_015331.3(NCSTN):c.2101C>G (p.Pro701Ala)not provided [RCV002711216]uncertain significance1160358242160358242Humanname
156320288CV2025300single nucleotide variantNM_015331.3(NCSTN):c.1829A>C (p.His610Pro)Inborn genetic diseases [RCV003269263]|not provided [RCV002717045]uncertain significance1160357075160357075Human1name
156189126CV2030187single nucleotide variantNM_015331.3(NCSTN):c.1047G>C (p.Lys349Asn)not provided [RCV002765854]uncertain significance1160352937160352937Humanname
156315145CV2031845single nucleotide variantNM_015331.3(NCSTN):c.1813G>C (p.Val605Leu)not provided [RCV002716755]uncertain significance1160357059160357059Humanname
156217053CV2039185single nucleotide variantNM_015331.3(NCSTN):c.1559G>A (p.Arg520His)not provided [RCV002766842]uncertain significance1160356267160356267Humanname
156207696CV2042344single nucleotide variantNM_015331.3(NCSTN):c.1208A>C (p.Lys403Thr)not provided [RCV002766479]uncertain significance1160354146160354146Humanname
155968987CV2079098single nucleotide variantNM_015331.3(NCSTN):c.1340C>T (p.Ala447Val)not provided [RCV002881395]uncertain significance1160354278160354278Humanname
156312967CV2107694single nucleotide variantNM_015331.3(NCSTN):c.1568A>G (p.Tyr523Cys)not provided [RCV002937280]uncertain significance1160356276160356276Humanname
155940286CV2119785single nucleotide variantNM_015331.3(NCSTN):c.1609A>G (p.Ile537Val)not provided [RCV002971234]uncertain significance1160356317160356317Humanname
155938048CV2146394single nucleotide variantNM_015331.3(NCSTN):c.1155G>C (p.Gln385His)not provided [RCV003014078]uncertain significance1160353213160353213Humanname
156169078CV2169802single nucleotide variantNM_015331.3(NCSTN):c.1118C>G (p.Ser373Ter)not provided [RCV003023457]pathogenic1160353176160353176Humanname
156128756CV2185844single nucleotide variantNM_015331.3(NCSTN):c.1777C>T (p.Pro593Ser)not provided [RCV003055756]uncertain significance1160356737160356737Humanname
156140632CV2199869single nucleotide variantNM_015331.3(NCSTN):c.1788C>A (p.Asn596Lys)Inborn genetic diseases [RCV002641254]uncertain significance1160356748160356748Human1name
155993934CV2252422single nucleotide variantNM_015331.3(NCSTN):c.1102G>C (p.Val368Leu)Inborn genetic diseases [RCV002778791]|not provided [RCV005099669]uncertain significance1160353160160353160Human1name
156190629CV2255173single nucleotide variantNM_015331.3(NCSTN):c.1850T>A (p.Leu617His)Inborn genetic diseases [RCV002802822]|not provided [RCV005099658]uncertain significance1160357096160357096Human1name
156037942CV2259843single nucleotide variantNM_015331.3(NCSTN):c.1745C>T (p.Thr582Ile)Inborn genetic diseases [RCV002821535]uncertain significance1160356705160356705Human1name
12907372CV227203single nucleotide variantNM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter)Acne inversa, familial, 1 [RCV000490379]pathogenic1160354238160354238Human1name
156060837CV2343804single nucleotide variantNM_015331.3(NCSTN):c.1060G>A (p.Val354Met)Inborn genetic diseases [RCV002978346]uncertain significance1160352950160352950Human1name
156010757CV2362167single nucleotide variantNM_015331.3(NCSTN):c.1967T>C (p.Ile656Thr)Inborn genetic diseases [RCV002997797]|not provided [RCV003720717]uncertain significance1160357213160357213Human1name
329396893CV2463606single nucleotide variantNM_015331.3(NCSTN):c.1642G>C (p.Asp548His)Inborn genetic diseases [RCV003195227]uncertain significance1160356602160356602Human1name
401736312CV2703105single nucleotide variantNM_015331.3(NCSTN):c.1550C>T (p.Thr517Met)Inborn genetic diseases [RCV003273142]|not provided [RCV003777057]uncertain significance1160355957160355957Human1name
401873536CV2749771single nucleotide variantNM_015331.3(NCSTN):c.1295G>A (p.Arg432Gln)not provided [RCV003332900]uncertain significance1160354233160354233Humanname
401880234CV2769997single nucleotide variantNM_015331.3(NCSTN):c.1889C>T (p.Ala630Val)Inborn genetic diseases [RCV003364555]uncertain significance1160357135160357135Human1name
401861401CV2779711single nucleotide variantNM_015331.3(NCSTN):c.1681A>G (p.Thr561Ala)Inborn genetic diseases [RCV003357807]uncertain significance1160356641160356641Human1name
405213557CV2879441single nucleotide variantNM_015331.3(NCSTN):c.1574T>C (p.Phe525Ser)not provided [RCV003552923]uncertain significance1160356282160356282Humanname
402520294CV2902673single nucleotide variantNM_015331.3(NCSTN):c.1217C>T (p.Ala406Val)not provided [RCV003575802]uncertain significance1160354155160354155Humanname
402521363CV2902900single nucleotide variantNM_015331.3(NCSTN):c.1268C>T (p.Pro423Leu)not provided [RCV003575880]uncertain significance1160354206160354206Humanname
402475368CV2920607single nucleotide variantNM_015331.3(NCSTN):c.1289T>A (p.Phe430Tyr)not provided [RCV003571335]uncertain significance1160354227160354227Humanname
405185950CV2921358single nucleotide variantNM_015331.3(NCSTN):c.1189C>T (p.Leu397Phe)not provided [RCV003564455]uncertain significance1160354127160354127Humanname
405005240CV2929376single nucleotide variantNM_015331.3(NCSTN):c.1274C>A (p.Ser425Tyr)not provided [RCV003576265]uncertain significance1160354212160354212Humanname
402509157CV2938382single nucleotide variantNM_015331.3(NCSTN):c.1466A>T (p.Asp489Val)not provided [RCV003662317]uncertain significance1160355873160355873Humanname
402521140CV2940129single nucleotide variantNM_015331.3(NCSTN):c.1715C>T (p.Ala572Val)not provided [RCV003663315]uncertain significance1160356675160356675Humanname
405123452CV2942560single nucleotide variantNM_015331.3(NCSTN):c.1108T>A (p.Leu370Ile)not provided [RCV003671721]uncertain significance1160353166160353166Humanname
405155449CV2949410single nucleotide variantNM_015331.3(NCSTN):c.1283A>G (p.Gln428Arg)not provided [RCV003674241]uncertain significance1160354221160354221Humanname
405166364CV2954664single nucleotide variantNM_015331.3(NCSTN):c.1405G>A (p.Glu469Lys)not provided [RCV003675068]uncertain significance1160355707160355707Humanname
405126015CV2958422single nucleotide variantNM_015331.3(NCSTN):c.1318G>C (p.Val440Leu)Inborn genetic diseases [RCV004953358]|not provided [RCV003667928]uncertain significance1160354256160354256Human1name
405147764CV2962849single nucleotide variantNM_015331.3(NCSTN):c.1036G>A (p.Asp346Asn)not provided [RCV003673775]uncertain significance1160352926160352926Humanname
405191545CV2964908single nucleotide variantNM_015331.3(NCSTN):c.1528A>G (p.Thr510Ala)not provided [RCV003677246]uncertain significance1160355935160355935Humanname
405203371CV2986086single nucleotide variantNM_015331.3(NCSTN):c.1450G>A (p.Ala484Thr)Inborn genetic diseases [RCV005377465]|not provided [RCV003678425]uncertain significance1160355752160355752Human1name
405204778CV2990633single nucleotide variantNM_015331.3(NCSTN):c.1291C>A (p.Leu431Ile)not provided [RCV003678592]uncertain significance1160354229160354229Humanname
404991300CV2999307single nucleotide variantNM_015331.3(NCSTN):c.2063A>G (p.Tyr688Cys)not provided [RCV003692309]uncertain significance1160358204160358204Humanname
405058789CV3019839single nucleotide variantNM_015331.3(NCSTN):c.1121T>C (p.Leu374Ser)not provided [RCV003697533]uncertain significance1160353179160353179Humanname
405119537CV3030683single nucleotide variantNM_015331.3(NCSTN):c.1613T>G (p.Leu538Arg)not provided [RCV003700608]uncertain significance1160356321160356321Humanname
405252925CV3044113single nucleotide variantNM_015331.3(NCSTN):c.1970G>A (p.Arg657His)not provided [RCV003722358]uncertain significance1160357216160357216Humanname
405245332CV3051455single nucleotide variantNM_015331.3(NCSTN):c.1916A>G (p.Gln639Arg)not provided [RCV003720265]uncertain significance1160357162160357162Humanname
405135155CV3052057single nucleotide variantNM_015331.3(NCSTN):c.1487G>A (p.Arg496His)not provided [RCV003725173]uncertain significance1160355894160355894Humanname
405186838CV3058843single nucleotide variantNM_015331.3(NCSTN):c.1375A>G (p.Thr459Ala)not provided [RCV003729345]uncertain significance1160355677160355677Humanname
402518431CV3135993single nucleotide variantNM_015331.3(NCSTN):c.1990G>A (p.Ala664Thr)Inborn genetic diseases [RCV004366832]|not provided [RCV003824619]uncertain significance1160357236160357236Human1name
405045250CV3137391single nucleotide variantNM_015331.3(NCSTN):c.1211G>A (p.Ser404Asn)not provided [RCV003831620]uncertain significance1160354149160354149Humanname
405231865CV3144586single nucleotide variantNM_015331.3(NCSTN):c.1156A>G (p.Lys386Glu)not provided [RCV003853039]uncertain significance1160353214160353214Humanname
405232868CV3144958single nucleotide variantNM_015331.3(NCSTN):c.1428C>G (p.Asp476Glu)not provided [RCV003853215]uncertain significance1160355730160355730Humanname
405208944CV3145779single nucleotide variantNM_015331.3(NCSTN):c.1576C>G (p.Leu526Val)not provided [RCV003845509]uncertain significance1160356284160356284Humanname
405210908CV3146269single nucleotide variantNM_015331.3(NCSTN):c.1877G>A (p.Arg626Gln)not provided [RCV003845800]uncertain significance1160357123160357123Humanname
405207394CV3162112single nucleotide variantNM_015331.3(NCSTN):c.1663A>G (p.Ile555Val)not provided [RCV003861606]uncertain significance1160356623160356623Humanname
402472451CV3171791single nucleotide variantNM_015331.3(NCSTN):c.1410G>T (p.Trp470Cys)not provided [RCV003874575]uncertain significance1160355712160355712Humanname
405814300CV3341229single nucleotide variantNM_015331.3(NCSTN):c.1617G>T (p.Arg539Ser)Inborn genetic diseases [RCV004484304]uncertain significance1160356325160356325Human1name
405814363CV3341265single nucleotide variantNM_015331.3(NCSTN):c.2011A>T (p.Ile671Phe)Inborn genetic diseases [RCV004484340]uncertain significance1160358152160358152Human1name
408377595CV3501609single nucleotide variantNM_015331.3(NCSTN):c.1294C>T (p.Arg432Ter)not provided [RCV004727668]pathogenic1160354232160354232Humanname
597720446CV3558874single nucleotide variantNM_015331.3(NCSTN):c.1247C>G (p.Pro416Arg)Inborn genetic diseases [RCV004961431]uncertain significance1160354185160354185Human1name
597720456CV3558877single nucleotide variantNM_015331.3(NCSTN):c.1288T>C (p.Phe430Leu)Inborn genetic diseases [RCV004961433]uncertain significance1160354226160354226Human1name
597720472CV3558880single nucleotide variantNM_015331.3(NCSTN):c.1012A>G (p.Ile338Val)Inborn genetic diseases [RCV004961436]uncertain significance1160352902160352902Human1name
597930925CV3745901single nucleotide variantNM_015331.3(NCSTN):c.2095A>G (p.Ile699Val)not provided [RCV005075886]uncertain significance1160358236160358236Humanname
597856003CV3747993single nucleotide variantNM_015331.3(NCSTN):c.2095A>C (p.Ile699Leu)not provided [RCV005066814]uncertain significance1160358236160358236Humanname
597856108CV3758750single nucleotide variantNM_015331.3(NCSTN):c.1082C>T (p.Ser361Leu)not provided [RCV005088710]uncertain significance1160352972160352972Humanname
597852178CV3779072single nucleotide variantNM_015331.3(NCSTN):c.1870A>G (p.Thr624Ala)not provided [RCV005127149]uncertain significance1160357116160357116Humanname
597853790CV3781979single nucleotide variantNM_015331.3(NCSTN):c.1965T>G (p.Asp655Glu)not provided [RCV005128471]uncertain significance1160357211160357211Humanname
597841582CV3783494single nucleotide variantNM_015331.3(NCSTN):c.2033G>C (p.Gly678Ala)not provided [RCV005116182]uncertain significance1160358174160358174Humanname
597855289CV3789735single nucleotide variantNM_015331.3(NCSTN):c.1803G>C (p.Glu601Asp)not provided [RCV005129830]uncertain significance1160357049160357049Humanname
597883351CV3807930single nucleotide variantNM_015331.3(NCSTN):c.1041G>A (p.Met347Ile)not provided [RCV005158309]uncertain significance1160352931160352931Humanname
597876339CV3809734single nucleotide variantNM_015331.3(NCSTN):c.1645G>A (p.Gly549Arg)not provided [RCV005151454]uncertain significance1160356605160356605Humanname
597892486CV3812938single nucleotide variantNM_015331.3(NCSTN):c.1991C>T (p.Ala664Val)not provided [RCV005167391]uncertain significance1160357237160357237Humanname
597885865CV3818847single nucleotide variantNM_015331.3(NCSTN):c.1144C>G (p.Pro382Ala)not provided [RCV005160917]uncertain significance1160353202160353202Humanname
597889621CV3823631single nucleotide variantNM_015331.3(NCSTN):c.1772A>G (p.Lys591Arg)not provided [RCV005165051]uncertain significance1160356732160356732Humanname
597890226CV3830536single nucleotide variantNM_015331.3(NCSTN):c.1855C>T (p.Arg619Trp)not provided [RCV005164676]uncertain significance1160357101160357101Humanname
597916942CV3838476single nucleotide variantNM_015331.3(NCSTN):c.1592A>G (p.Asn531Ser)not provided [RCV005191851]uncertain significance1160356300160356300Humanname
15180089CV731808single nucleotide variantNM_015331.3(NCSTN):c.1525G>A (p.Asp509Asn)not provided [RCV000907268]benign1160355932160355932Humanname
8629031CV84174single nucleotide variantNM_015331.2(NCSTN):c.1166C>T (p.Ser389Phe)Malignant melanoma [RCV000064255]not provided1160353224160353224Humanname
126749837CV987007single nucleotide variantNM_015331.3(NCSTN):c.1955G>T (p.Arg652Leu)not provided [RCV001297209]uncertain significance1160357201160357201Humanname
408365314CV3499781deletionNM_015331.3(NCSTN):c.344_351del (p.Thr115fs)not provided [RCV004721825]uncertain significance1160349577160349584Humanname
597879261CV3807037deletionNM_015331.3(NCSTN):c.751_752del (p.Leu251fs)not provided [RCV005154408]pathogenic1160351713160351714Humanname
243050028CV2403766indelNM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCAAcne inversa, familial, 1 [RCV003128285]pathogenic1160352991160353008Humanname
156379339CV2117845deletionNM_015331.3(NCSTN):c.115_126del (p.Lys39_Ile42del)not provided [RCV002943018]uncertain significance1160344751160344762Humanname
156319193CV2137936indelNM_015331.3(NCSTN):c.1248_1249delinsGT (p.Asn417Tyr)not provided [RCV002963086]uncertain significance1160354186160354187Humanname
151789117CV1434385duplicationNM_015331.3(NCSTN):c.1419_1442dup (p.Glu474_Thr481dup)not provided [RCV001876338]uncertain significance1160355719160355720Humanname