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Pathways
Variants search result for Homo sapiens
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More than 1000 records found for search term Sik1 (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127275826CV1085734single nucleotide variantNM_173354.5(SIK1):c.748+9T>ADevelopmental and epileptic encephalopathy, 30 [RCV001406913]likely benign214342100143421001Human1name
127278728CV1107457single nucleotide variantNM_173354.5(SIK1):c.748+8G>ADevelopmental and epileptic encephalopathy, 30 [RCV001445270]likely benign214342100243421002Human1name
127237268CV1107463single nucleotide variantNM_173354.5(SIK1):c.499+9G>TDevelopmental and epileptic encephalopathy, 30 [RCV001422679]likely benign214342162943421629Human1name
127304384CV1128860single nucleotide variantNM_173354.5(SIK1):c.625-9C>TDevelopmental and epileptic encephalopathy, 30 [RCV001454955]likely benign214342114243421142Human1name
150541316CV1301383single nucleotide variantNM_173354.5(SIK1):c.500-3C>Gnot provided [RCV001767793]uncertain significance214342137043421370Humanname
151804830CV1430775single nucleotide variantNM_173354.5(SIK1):c.499+4C>TDevelopmental and epileptic encephalopathy, 30 [RCV001899403]uncertain significance214342163443421634Human1name
151868380CV1438036single nucleotide variantNM_173354.5(SIK1):c.624+6A>GDevelopmental and epileptic encephalopathy, 30 [RCV001906159]uncertain significance214342123743421237Human1name
151752318CV1473794single nucleotide variantNM_173354.5(SIK1):c.273+4A>TDevelopmental and epileptic encephalopathy, 30 [RCV001872379]uncertain significance214342540343425403Human1name
151667546CV1498733single nucleotide variantNM_173354.5(SIK1):c.749-7T>ADevelopmental and epileptic encephalopathy, 30 [RCV002001451]uncertain significance214342046443420464Human1name
152110788CV1564116single nucleotide variantNM_173354.5(SIK1):c.625-5A>GDevelopmental and epileptic encephalopathy, 30 [RCV002174308]likely benign214342113843421138Human1name
152085687CV1621068single nucleotide variantNM_173354.5(SIK1):c.273+7G>ADevelopmental and epileptic encephalopathy, 30 [RCV002193602]likely benign214342540043425400Human1name
152095926CV1661816single nucleotide variantNM_173354.5(SIK1):c.273+8G>ADevelopmental and epileptic encephalopathy, 30 [RCV002172448]likely benign214342539943425399Human1name
156150285CV1878921single nucleotide variantNM_173354.5(SIK1):c.500-7C>TDevelopmental and epileptic encephalopathy, 30 [RCV003056506]likely benign214342137443421374Human1name
156040224CV1929532single nucleotide variantNM_173354.5(SIK1):c.156+7G>ADevelopmental and epileptic encephalopathy, 30 [RCV002637544]likely benign214342601643426016Human1name
156280865CV1967917single nucleotide variantNM_173354.5(SIK1):c.156+5G>TDevelopmental and epileptic encephalopathy, 30 [RCV002598390]uncertain significance214342601843426018Human1name
156365064CV2010665deletionNM_173354.5(SIK1):c.499+4delDevelopmental and epileptic encephalopathy, 30 [RCV002676503]uncertain significance214342163443421634Human1name
156222232CV2115186single nucleotide variantNM_173354.5(SIK1):c.749-4A>CDevelopmental and epileptic encephalopathy, 30 [RCV002932502]likely benign214342046143420461Human1name
405197518CV2873450single nucleotide variantNM_173354.5(SIK1):c.273+4A>CDevelopmental and epileptic encephalopathy, 30 [RCV003590762]uncertain significance214342540343425403Human1name
405197456CV2880505single nucleotide variantNM_173354.5(SIK1):c.274-5T>CDevelopmental and epileptic encephalopathy, 30 [RCV003590729]likely benign214342204243422042Human1name
405176433CV2889095single nucleotide variantNM_173354.5(SIK1):c.500-2A>GDevelopmental and epileptic encephalopathy, 30 [RCV003588150]uncertain significance214342136943421369Human1name
405200754CV2930286single nucleotide variantNM_173354.5(SIK1):c.500-6G>ADevelopmental and epileptic encephalopathy, 30 [RCV003591120]likely benign214342137343421373Human1name
405109157CV2951192single nucleotide variantNM_173354.5(SIK1):c.499+4C>GDevelopmental and epileptic encephalopathy, 30 [RCV003751170]uncertain significance214342163443421634Human1name
405115325CV3008251single nucleotide variantNM_173354.5(SIK1):c.274-6C>ADevelopmental and epileptic encephalopathy, 30 [RCV003752224]likely benign214342204343422043Human1name
405115631CV3010041single nucleotide variantNM_173354.5(SIK1):c.625-6C>TDevelopmental and epileptic encephalopathy, 30 [RCV003752321]likely benign214342113943421139Human1name
405117040CV3026181single nucleotide variantNM_173354.5(SIK1):c.624+3A>GDevelopmental and epileptic encephalopathy, 30 [RCV003752507]uncertain significance214342124043421240Human1name
405105986CV3036108deletionNM_173354.5(SIK1):c.157-5delDevelopmental and epileptic encephalopathy, 30 [RCV003750394]likely benign214342552843425528Human1name
405110226CV3062589single nucleotide variantNM_173354.5(SIK1):c.973-5C>GDevelopmental and epileptic encephalopathy, 30 [RCV003751331]likely benign214342001043420010Human1name
12848976CV363952deletionNM_173354.5(SIK1):c.274-3delDevelopmental and epileptic encephalopathy, 30 [RCV001080379]|Inborn genetic diseases [RCV002318375]|not provided [RCV000421813]benign|likely benign214342204043422040Human2name
597887955CV3739191single nucleotide variantNM_173354.5(SIK1):c.624+5G>CDevelopmental and epileptic encephalopathy, 30 [RCV005070738]uncertain significance214342123843421238Human1name
597908833CV3781628single nucleotide variantNM_173354.5(SIK1):c.337+7C>TDevelopmental and epileptic encephalopathy, 30 [RCV005128316]likely benign214342196743421967Human1name
597896346CV3786075single nucleotide variantNM_173354.5(SIK1):c.337+1G>ADevelopmental and epileptic encephalopathy, 30 [RCV005126449]uncertain significance214342197343421973Human1name
13625285CV533931single nucleotide variantNM_173354.5(SIK1):c.748+7C>TDevelopmental and epileptic encephalopathy, 30 [RCV000653196]likely benign214342100343421003Human1name
14725775CV653570single nucleotide variantNM_173354.5(SIK1):c.273+6G>CDevelopmental and epileptic encephalopathy, 30 [RCV000815353]uncertain significance214342540143425401Human1name
15159237CV745349single nucleotide variantNM_173354.5(SIK1):c.338-9G>TDevelopmental and epileptic encephalopathy, 30 [RCV000902894]likely benign214342180843421808Human1name
15131794CV776736single nucleotide variantNM_173354.5(SIK1):c.273+8G>TDevelopmental and epileptic encephalopathy, 30 [RCV000942287]benign214342539943425399Human1name
15113551CV788305single nucleotide variantNM_173354.5(SIK1):c.500-6G>TDevelopmental and epileptic encephalopathy, 30 [RCV000978041]likely benign214342137343421373Human1name
26884862CV853007single nucleotide variantNM_173354.5(SIK1):c.274-3T>ADevelopmental and epileptic encephalopathy, 30 [RCV001043197]uncertain significance214342204043422040Human1name
126914065CV1051912single nucleotide variantNM_173354.5(SIK1):c.1976+5G>TDevelopmental and epileptic encephalopathy, 30 [RCV001359400]uncertain significance214341753843417538Human1name
127270929CV1085725single nucleotide variantNM_173354.5(SIK1):c.1976+8C>TDevelopmental and epileptic encephalopathy, 30 [RCV001405205]likely benign214341753543417535Human1name
127239338CV1107449single nucleotide variantNM_173354.5(SIK1):c.1463-6C>TDevelopmental and epileptic encephalopathy, 30 [RCV001423105]likely benign214341854743418547Human1name
127259640CV1107450single nucleotide variantNM_173354.5(SIK1):c.1463-8C>TDevelopmental and epileptic encephalopathy, 30 [RCV001438392]likely benign214341854943418549Human1name
127252227CV1107453single nucleotide variantNM_173354.5(SIK1):c.1120-9C>TDevelopmental and epileptic encephalopathy, 30 [RCV001436740]likely benign214341948743419487Human1name
127265321CV1107465single nucleotide variantNM_173354.5(SIK1):c.157-10A>GDevelopmental and epileptic encephalopathy, 30 [RCV001429040]likely benign214342553343425533Human1name
127334608CV1128853single nucleotide variantNM_173354.5(SIK1):c.1463-5C>ADevelopmental and epileptic encephalopathy, 30 [RCV001473693]|Inborn genetic diseases [RCV002396118]likely benign|uncertain significance214341854643418546Human2name
127314051CV1128854single nucleotide variantNM_173354.5(SIK1):c.1462+9C>ADevelopmental and epileptic encephalopathy, 30 [RCV001457597]likely benign214341901243419012Human1name
127330133CV1149826single nucleotide variantNM_173354.5(SIK1):c.1120-4C>GDevelopmental and epileptic encephalopathy, 30 [RCV001487882]likely benign214341948243419482Human1name
151351856CV1323686single nucleotide variantNM_173354.5(SIK1):c.749-45C>GDevelopmental and epileptic encephalopathy, 30 [RCV001807595]|not provided [RCV004713108]|not specified [RCV004598148]benign214342050243420502Human1name
151351858CV1323687single nucleotide variantNM_173354.5(SIK1):c.749-49G>ADevelopmental and epileptic encephalopathy, 30 [RCV001807596]|not provided [RCV004713109]benign214342050643420506Human1name
151351859CV1323688single nucleotide variantNM_173354.5(SIK1):c.748+17C>TDevelopmental and epileptic encephalopathy, 30 [RCV001807597]|not provided [RCV004713110]benign214342099343420993Human1name
151351861CV1323689single nucleotide variantNM_173354.5(SIK1):c.625-23T>CDevelopmental and epileptic encephalopathy, 30 [RCV001807598]|not provided [RCV004714344]|not specified [RCV004598149]benign214342115643421156Human1name
151351863CV1323690single nucleotide variantNM_173354.5(SIK1):c.625-39A>GDevelopmental and epileptic encephalopathy, 30 [RCV001807599]|not provided [RCV004714345]|not specified [RCV004598150]benign214342117243421172Human1name
151351866CV1323691single nucleotide variantNM_173354.5(SIK1):c.337+35C>GDevelopmental and epileptic encephalopathy, 30 [RCV001807600]|not provided [RCV004714346]benign214342193943421939Human1name
151351868CV1323692single nucleotide variantNM_173354.5(SIK1):c.274-28G>ADevelopmental and epileptic encephalopathy, 30 [RCV001807601]|not provided [RCV004714347]benign214342206543422065Human1name
151351871CV1323693single nucleotide variantNM_173354.5(SIK1):c.156+15T>CDevelopmental and epileptic encephalopathy, 30 [RCV001807602]|not provided [RCV004714348]benign214342600843426008Human1name
151777472CV1381182single nucleotide variantNM_173354.5(SIK1):c.274-11T>GDevelopmental and epileptic encephalopathy, 30 [RCV002045823]likely benign|uncertain significance214342204843422048Human1name
152121093CV1521391single nucleotide variantNM_173354.5(SIK1):c.156+18G>CDevelopmental and epileptic encephalopathy, 30 [RCV002135719]benign214342600543426005Human1name
152042891CV1522258single nucleotide variantNM_173354.5(SIK1):c.972+15A>GDevelopmental and epileptic encephalopathy, 30 [RCV002088190]likely benign214342021943420219Human1name
152135784CV1528365single nucleotide variantNM_173354.5(SIK1):c.273+15T>CDevelopmental and epileptic encephalopathy, 30 [RCV002100097]likely benign214342539243425392Human1name
152059839CV1540534single nucleotide variantNM_173354.5(SIK1):c.973-16C>TDevelopmental and epileptic encephalopathy, 30 [RCV002109977]likely benign214342002143420021Human1name
152121979CV1554691single nucleotide variantNM_173354.5(SIK1):c.624+13T>CDevelopmental and epileptic encephalopathy, 30 [RCV002198174]likely benign214342123043421230Human1name
152109580CV1556676single nucleotide variantNM_173354.5(SIK1):c.625-12G>CDevelopmental and epileptic encephalopathy, 30 [RCV002096662]likely benign214342114543421145Human1name
152105787CV1559972single nucleotide variantNM_173354.5(SIK1):c.337+17T>CDevelopmental and epileptic encephalopathy, 30 [RCV002133830]likely benign214342195743421957Human1name
152158492CV1564424deletionNM_173354.5(SIK1):c.1463-5delDevelopmental and epileptic encephalopathy, 30 [RCV002140517]benign214341854643418546Human1name
152069732CV1569992single nucleotide variantNM_173354.5(SIK1):c.499+14G>ADevelopmental and epileptic encephalopathy, 30 [RCV002191624]likely benign214342162443421624Human1name
152127972CV1572169single nucleotide variantNM_173354.5(SIK1):c.748+18G>ADevelopmental and epileptic encephalopathy, 30 [RCV002217669]likely benign214342099243420992Human1name
152163189CV1600755single nucleotide variantNM_173354.5(SIK1):c.338-15T>CDevelopmental and epileptic encephalopathy, 30 [RCV002141279]likely benign214342181443421814Human1name
152035675CV1604227single nucleotide variantNM_173354.5(SIK1):c.273+16G>ADevelopmental and epileptic encephalopathy, 30 [RCV002087163]likely benign214342539143425391Human1name
152086305CV1608340single nucleotide variantNM_173354.5(SIK1):c.624+15C>TDevelopmental and epileptic encephalopathy, 30 [RCV002212087]benign214342122843421228Human1name
152132063CV1621277single nucleotide variantNM_173354.5(SIK1):c.273+15T>GDevelopmental and epileptic encephalopathy, 30 [RCV002218204]likely benign214342539243425392Human1name
152076422CV1632703single nucleotide variantNM_173354.5(SIK1):c.1246-7A>GDevelopmental and epileptic encephalopathy, 30 [RCV002169975]likely benign214341924443419244Human1name
152089631CV1634036single nucleotide variantNM_173354.5(SIK1):c.972+10G>ADevelopmental and epileptic encephalopathy, 30 [RCV002194128]likely benign214342022443420224Human1name
152113731CV1639459single nucleotide variantNM_173354.5(SIK1):c.338-14T>CDevelopmental and epileptic encephalopathy, 30 [RCV002197124]likely benign214342181343421813Human1name
152148209CV1640196single nucleotide variantNM_173354.5(SIK1):c.624+18G>ADevelopmental and epileptic encephalopathy, 30 [RCV002157760]likely benign214342122543421225Human1name
152168069CV1642963single nucleotide variantNM_173354.5(SIK1):c.500-18T>GDevelopmental and epileptic encephalopathy, 30 [RCV002204875]likely benign214342138543421385Human1name
152100943CV1648942single nucleotide variantNM_173354.5(SIK1):c.338-13T>GDevelopmental and epileptic encephalopathy, 30 [RCV002213996]likely benign214342181243421812Human1name
152073403CV1657492single nucleotide variantNM_173354.5(SIK1):c.973-19C>TDevelopmental and epileptic encephalopathy, 30 [RCV002210276]likely benign214342002443420024Human1name
152053436CV1659344single nucleotide variantNM_173354.5(SIK1):c.156+13G>ADevelopmental and epileptic encephalopathy, 30 [RCV002189687]likely benign214342601043426010Human1name
156386709CV1875057single nucleotide variantNM_173354.5(SIK1):c.624+12G>ADevelopmental and epileptic encephalopathy, 30 [RCV003050921]likely benign214342123143421231Human1name
156036422CV1890207deletionNM_173354.5(SIK1):c.748+20delDevelopmental and epileptic encephalopathy, 30 [RCV003078334]likely benign214342099043420990Human1name
156038339CV1890819single nucleotide variantNM_173354.5(SIK1):c.748+17C>GDevelopmental and epileptic encephalopathy, 30 [RCV003078410]likely benign214342099343420993Human1name
156381111CV1893624single nucleotide variantNM_173354.5(SIK1):c.624+19C>GDevelopmental and epileptic encephalopathy, 30 [RCV003093281]likely benign214342122443421224Human1name
156440566CV1943621single nucleotide variantNM_173354.5(SIK1):c.1462+4A>GDevelopmental and epileptic encephalopathy, 30 [RCV003110601]uncertain significance214341901743419017Human1name
156356639CV1996678single nucleotide variantNM_173354.5(SIK1):c.337+11C>TDevelopmental and epileptic encephalopathy, 30 [RCV002675970]likely benign214342196343421963Human1name
156175313CV2038168single nucleotide variantNM_173354.5(SIK1):c.499+17G>ADevelopmental and epileptic encephalopathy, 30 [RCV002741991]likely benign214342162143421621Human1name
156020085CV2058898single nucleotide variantNM_173354.5(SIK1):c.338-18T>CDevelopmental and epileptic encephalopathy, 30 [RCV002820574]likely benign214342181743421817Human1name
156128321CV2100712duplicationNM_173354.5(SIK1):c.1463-5dupDevelopmental and epileptic encephalopathy, 30 [RCV002889843]benign214341854543418546Human1name
156001475CV2106788single nucleotide variantNM_173354.5(SIK1):c.156+20C>TDevelopmental and epileptic encephalopathy, 30 [RCV002947808]likely benign214342600343426003Human1name
156266133CV2140003single nucleotide variantNM_173354.5(SIK1):c.749-11C>TDevelopmental and epileptic encephalopathy, 30 [RCV003009099]likely benign214342046843420468Human1name
156312322CV2143748single nucleotide variantNM_173354.5(SIK1):c.499+16G>ADevelopmental and epileptic encephalopathy, 30 [RCV003011185]likely benign214342162243421622Human1name
156049488CV2186653duplicationNM_173354.5(SIK1):c.1976+6dupDevelopmental and epileptic encephalopathy, 30 [RCV003036859]likely benign214341753643417537Human1name
156037911CV2189827single nucleotide variantNM_173354.5(SIK1):c.337+10A>GDevelopmental and epileptic encephalopathy, 30 [RCV003036450]likely benign214342196443421964Human1name
405178652CV2893084single nucleotide variantNM_173354.5(SIK1):c.337+20A>GDevelopmental and epileptic encephalopathy, 30 [RCV003588251]likely benign214342195443421954Human1name
405192075CV2916191single nucleotide variantNM_173354.5(SIK1):c.337+19C>TDevelopmental and epileptic encephalopathy, 30 [RCV003589995]likely benign214342195543421955Human1name
405199862CV2923295single nucleotide variantNM_173354.5(SIK1):c.273+13C>TDevelopmental and epileptic encephalopathy, 30 [RCV003590995]likely benign214342539443425394Human1name
405108252CV2937182single nucleotide variantNM_173354.5(SIK1):c.1246-9C>GDevelopmental and epileptic encephalopathy, 30 [RCV003751023]likely benign214341924643419246Human1name
405112374CV2975207single nucleotide variantNM_173354.5(SIK1):c.624+20A>GDevelopmental and epileptic encephalopathy, 30 [RCV003751721]likely benign214342122343421223Human1name
405113115CV2978547single nucleotide variantNM_173354.5(SIK1):c.1119+3G>ADevelopmental and epileptic encephalopathy, 30 [RCV003751915]uncertain significance214341985643419856Human1name
405117238CV3019912single nucleotide variantNM_173354.5(SIK1):c.499+13C>TDevelopmental and epileptic encephalopathy, 30 [RCV003752533]likely benign214342162543421625Human1name
405105296CV3028132single nucleotide variantNM_173354.5(SIK1):c.748+16T>CDevelopmental and epileptic encephalopathy, 30 [RCV003750304]likely benign214342099443420994Human1name
405106061CV3040058single nucleotide variantNM_173354.5(SIK1):c.972+14C>TDevelopmental and epileptic encephalopathy, 30 [RCV003750419]likely benign214342022043420220Human1name
405105428CV3040995single nucleotide variantNM_173354.5(SIK1):c.1119+6G>ADevelopmental and epileptic encephalopathy, 30 [RCV003750357]uncertain significance214341985343419853Human1name
405110573CV3073202single nucleotide variantNM_173354.5(SIK1):c.157-20T>ADevelopmental and epileptic encephalopathy, 30 [RCV003751427]likely benign214342554343425543Human1name
405111732CV3081036single nucleotide variantNM_173354.5(SIK1):c.973-13C>TDevelopmental and epileptic encephalopathy, 30 [RCV003751609]likely benign214342001843420018Human1name
405194739CV3128511duplicationNM_173354.5(SIK1):c.156+11dupDevelopmental and epileptic encephalopathy, 30 [RCV003821248]benign214342601143426012Human1name
405135374CV3133914single nucleotide variantNM_173354.5(SIK1):c.973-14C>TDevelopmental and epileptic encephalopathy, 30 [RCV003838693]likely benign214342001943420019Human1name
405281088CV3223877single nucleotide variantNM_173354.5(SIK1):c.625-16C>Tnot specified [RCV003988255]likely benign214342114943421149Humanname
407501794CV3480738single nucleotide variantNM_173354.5(SIK1):c.1120-5C>AInborn genetic diseases [RCV004669836]uncertain significance214341948343419483Human1name
597846716CV3736254single nucleotide variantNM_173354.5(SIK1):c.500-19C>TDevelopmental and epileptic encephalopathy, 30 [RCV005065602]likely benign214342138643421386Human1name
597942393CV3757786single nucleotide variantNM_173354.5(SIK1):c.1976+3A>GDevelopmental and epileptic encephalopathy, 30 [RCV005077784]uncertain significance214341754043417540Human1name
597907065CV3773137single nucleotide variantNM_173354.5(SIK1):c.1977-7C>GDevelopmental and epileptic encephalopathy, 30 [RCV005113202]likely benign214341712443417124Human1name
597937063CV3774622single nucleotide variantNM_173354.5(SIK1):c.337+12T>ADevelopmental and epileptic encephalopathy, 30 [RCV005117655]likely benign214342196243421962Human1name
597967163CV3823806single nucleotide variantNM_173354.5(SIK1):c.972+12C>TDevelopmental and epileptic encephalopathy, 30 [RCV005165226]likely benign214342022243420222Human1name
597974314CV3831570single nucleotide variantNM_173354.5(SIK1):c.749-11C>ADevelopmental and epileptic encephalopathy, 30 [RCV005168509]likely benign214342046843420468Human1name
597944064CV3847291single nucleotide variantNM_173354.5(SIK1):c.624+17C>TDevelopmental and epileptic encephalopathy, 30 [RCV005188211]benign214342122643421226Human1name
13466047CV470724single nucleotide variantNM_173354.5(SIK1):c.1463-7C>TDevelopmental and epileptic encephalopathy, 30 [RCV001083726]|not provided [RCV000713287]benign|likely benign214341854843418548Human1name
13500467CV471691single nucleotide variantNM_173354.5(SIK1):c.1463-5C>TDevelopmental and epileptic encephalopathy, 30 [RCV000536953]|Inborn genetic diseases [RCV002316585]|not specified [RCV005239217]likely benign|uncertain significance214341854643418546Human2name
13625294CV533966single nucleotide variantNM_173354.5(SIK1):c.1463-6C>ADevelopmental and epileptic encephalopathy, 30 [RCV000653206]likely benign214341854743418547Human1name
13625298CV534458single nucleotide variantNM_173354.5(SIK1):c.1463-5C>GDevelopmental and epileptic encephalopathy, 30 [RCV000653210]likely benign214341854643418546Human1name
13625284CV534460single nucleotide variantNM_173354.5(SIK1):c.1119+7G>ADevelopmental and epileptic encephalopathy, 30 [RCV000653195]|not provided [RCV003437386]benign|likely benign214341985243419852Human1name
13815808CV573822single nucleotide variantNM_173354.5(SIK1):c.1745-2A>GDevelopmental and epileptic encephalopathy, 30 [RCV000691881]uncertain significance214341777643417776Human1name
13828371CV580486single nucleotide variantNM_173354.5(SIK1):c.1463-3C>TDevelopmental and epileptic encephalopathy, 30 [RCV000946247]|Inborn genetic diseases [RCV002312381]benign214341854443418544Human2name
14724801CV653231single nucleotide variantNM_173354.5(SIK1):c.1463-7C>GDevelopmental and epileptic encephalopathy, 30 [RCV000814932]likely benign|uncertain significance214341854843418548Human1name
15143775CV695862single nucleotide variantNM_173354.5(SIK1):c.1246-5C>TDevelopmental and epileptic encephalopathy, 30 [RCV000878106]|Inborn genetic diseases [RCV002390852]likely benign214341924243419242Human2name
15201896CV731379single nucleotide variantNM_173354.5(SIK1):c.1246-4G>ADevelopmental and epileptic encephalopathy, 30 [RCV001462148]|not provided [RCV004704277]likely benign214341924143419241Human1name
15127235CV745339single nucleotide variantNM_173354.5(SIK1):c.1744+7C>GDevelopmental and epileptic encephalopathy, 30 [RCV000897072]likely benign214341825343418253Human1name
15181621CV776818single nucleotide variantNM_173354.5(SIK1):c.1120-8G>ADevelopmental and epileptic encephalopathy, 30 [RCV000930170]likely benign214341948643419486Human1name
15178098CV778597single nucleotide variantNM_173354.5(SIK1):c.1744+9C>TDevelopmental and epileptic encephalopathy, 30 [RCV000951193]likely benign214341825143418251Human1name
15108201CV780219single nucleotide variantNM_173354.5(SIK1):c.1463-6C>GDevelopmental and epileptic encephalopathy, 30 [RCV001409915]likely benign214341854743418547Human1name
15121358CV788309single nucleotide variantNM_173354.5(SIK1):c.156+10G>ADevelopmental and epileptic encephalopathy, 30 [RCV001416274]likely benign214342601343426013Human1name
38460860CV960327single nucleotide variantNM_173354.5(SIK1):c.1119+6G>CDevelopmental and epileptic encephalopathy, 30 [RCV001229427]uncertain significance214341985343419853Human1name
151351855CV1323685single nucleotide variantNM_173354.5(SIK1):c.1246-36T>CDevelopmental and epileptic encephalopathy, 30 [RCV001807594]|not provided [RCV004713107]benign214341927343419273Human1name
151848213CV1450919single nucleotide variantNM_173354.5(SIK1):c.1462+13G>ADevelopmental and epileptic encephalopathy, 30 [RCV001957621]likely benign|uncertain significance214341900843419008Human1name
152130068CV1519495deletionNM_173354.5(SIK1):c.1976+15delDevelopmental and epileptic encephalopathy, 30 [RCV002155408]benign214341752843417528Human1name
152136018CV1528408single nucleotide variantNM_173354.5(SIK1):c.1745-20C>TDevelopmental and epileptic encephalopathy, 30 [RCV002100128]likely benign214341779443417794Human1name
152048054CV1549597single nucleotide variantNM_173354.5(SIK1):c.1463-19C>TDevelopmental and epileptic encephalopathy, 30 [RCV002166504]likely benign214341856043418560Human1name
152124726CV1553936single nucleotide variantNM_173354.5(SIK1):c.1120-16C>TDevelopmental and epileptic encephalopathy, 30 [RCV002098654]|not provided [RCV004704732]likely benign214341949443419494Human1name
152171271CV1562257single nucleotide variantNM_173354.5(SIK1):c.1463-18G>ADevelopmental and epileptic encephalopathy, 30 [RCV002183444]|not provided [RCV004714386]benign214341855943418559Human1name
152138804CV1565242single nucleotide variantNM_173354.5(SIK1):c.1463-15G>ADevelopmental and epileptic encephalopathy, 30 [RCV002083880]likely benign214341855643418556Human1name
152067412CV1566841single nucleotide variantNM_173354.5(SIK1):c.1463-15G>CDevelopmental and epileptic encephalopathy, 30 [RCV002091114]likely benign214341855643418556Human1name
152068951CV1570707single nucleotide variantNM_173354.5(SIK1):c.1246-17G>CDevelopmental and epileptic encephalopathy, 30 [RCV002129347]likely benign214341925443419254Human1name
152138839CV1570983single nucleotide variantNM_173354.5(SIK1):c.1245+19T>ADevelopmental and epileptic encephalopathy, 30 [RCV002120075]likely benign214341933443419334Human1name
152141854CV1583492single nucleotide variantNM_173354.5(SIK1):c.1462+18C>TDevelopmental and epileptic encephalopathy, 30 [RCV002120481]likely benign214341900343419003Human1name
152128272CV1583732deletionNM_173354.5(SIK1):c.1977-14delDevelopmental and epileptic encephalopathy, 30 [RCV002198977]likely benign214341713143417131Human1name
152128956CV1584222single nucleotide variantNM_173354.5(SIK1):c.1462+11C>TDevelopmental and epileptic encephalopathy, 30 [RCV002082602]|not provided [RCV004713130]benign214341901043419010Human1name
152133075CV1585189single nucleotide variantNM_173354.5(SIK1):c.1119+13A>CDevelopmental and epileptic encephalopathy, 30 [RCV002083134]likely benign214341984643419846Human1name
152075056CV1599390single nucleotide variantNM_173354.5(SIK1):c.1462+20C>GDevelopmental and epileptic encephalopathy, 30 [RCV002075617]likely benign214341900143419001Human1name
152161982CV1608715single nucleotide variantNM_173354.5(SIK1):c.1245+16G>ADevelopmental and epileptic encephalopathy, 30 [RCV002103972]likely benign214341933743419337Human1name
152099010CV1611817single nucleotide variantNM_173354.5(SIK1):c.1976+15C>TDevelopmental and epileptic encephalopathy, 30 [RCV002172851]likely benign214341752843417528Human1name
152132929CV1621516single nucleotide variantNM_173354.5(SIK1):c.1462+19C>TDevelopmental and epileptic encephalopathy, 30 [RCV002218321]likely benign214341900243419002Human1name
152094373CV1634532single nucleotide variantNM_173354.5(SIK1):c.1463-10C>TDevelopmental and epileptic encephalopathy, 30 [RCV002213163]likely benign214341855143418551Human1name
152066290CV1636378single nucleotide variantNM_173354.5(SIK1):c.1119+14G>ADevelopmental and epileptic encephalopathy, 30 [RCV002110833]|not provided [RCV004704781]likely benign214341984543419845Human1name
152145871CV1642221single nucleotide variantNM_173354.5(SIK1):c.1977-14C>TDevelopmental and epileptic encephalopathy, 30 [RCV002101458]likely benign214341713143417131Human1name
152115400CV1654011single nucleotide variantNM_173354.5(SIK1):c.1744+13C>TDevelopmental and epileptic encephalopathy, 30 [RCV002097409]likely benign214341824743418247Human1name
156237750CV1882232single nucleotide variantNM_173354.5(SIK1):c.1120-15G>ADevelopmental and epileptic encephalopathy, 30 [RCV003085628]likely benign214341949343419493Human1name
156412692CV1886848single nucleotide variantNM_173354.5(SIK1):c.1976+19C>TDevelopmental and epileptic encephalopathy, 30 [RCV003072998]likely benign214341752443417524Human1name
156404422CV1898248single nucleotide variantNM_173354.5(SIK1):c.1119+19C>TDevelopmental and epileptic encephalopathy, 30 [RCV002585404]likely benign214341984043419840Human1name
156418782CV1918758single nucleotide variantNM_173354.5(SIK1):c.1119+11G>ADevelopmental and epileptic encephalopathy, 30 [RCV002611991]likely benign214341984843419848Human1name
156442776CV1949755single nucleotide variantNM_173354.5(SIK1):c.1976+11C>TDevelopmental and epileptic encephalopathy, 30 [RCV003113128]likely benign214341753243417532Human1name
156378600CV1953731single nucleotide variantNM_173354.5(SIK1):c.1463-10C>ADevelopmental and epileptic encephalopathy, 30 [RCV002583004]likely benign214341855143418551Human1name
156139541CV1973537single nucleotide variantNM_173354.5(SIK1):c.1246-15G>ADevelopmental and epileptic encephalopathy, 30 [RCV002593781]likely benign214341925243419252Human1name
156285493CV2012747single nucleotide variantNM_173354.5(SIK1):c.1119+20T>ADevelopmental and epileptic encephalopathy, 30 [RCV002715445]likely benign214341983943419839Human1name
156309128CV2111149single nucleotide variantNM_173354.5(SIK1):c.1462+12C>TDevelopmental and epileptic encephalopathy, 30 [RCV002937062]likely benign214341900943419009Human1name
155959499CV2133659single nucleotide variantNM_173354.5(SIK1):c.1246-17G>TDevelopmental and epileptic encephalopathy, 30 [RCV003015393]likely benign214341925443419254Human1name
156319475CV2182470single nucleotide variantNM_173354.5(SIK1):c.1977-16T>GDevelopmental and epileptic encephalopathy, 30 [RCV003046507]likely benign214341713343417133Human1name
405189404CV2865219single nucleotide variantNM_173354.5(SIK1):c.1246-10T>GDevelopmental and epileptic encephalopathy, 30 [RCV003589633]likely benign214341924743419247Human1name
405196439CV2879687single nucleotide variantNM_173354.5(SIK1):c.1462+12C>GDevelopmental and epileptic encephalopathy, 30 [RCV003590603]likely benign214341900943419009Human1name
405197093CV2879917single nucleotide variantNM_173354.5(SIK1):c.1976+15C>ADevelopmental and epileptic encephalopathy, 30 [RCV003590641]likely benign214341752843417528Human1name
405181617CV2898638single nucleotide variantNM_173354.5(SIK1):c.1976+16G>ADevelopmental and epileptic encephalopathy, 30 [RCV003588463]likely benign214341752743417527Human1name
405194399CV2911314single nucleotide variantNM_173354.5(SIK1):c.1744+10G>CDevelopmental and epileptic encephalopathy, 30 [RCV003590283]likely benign214341825043418250Human1name
405193936CV2917232single nucleotide variantNM_173354.5(SIK1):c.1245+16G>TDevelopmental and epileptic encephalopathy, 30 [RCV003590151]likely benign214341933743419337Human1name
405108336CV2937885single nucleotide variantNM_173354.5(SIK1):c.1976+15C>GDevelopmental and epileptic encephalopathy, 30 [RCV003751043]likely benign214341752843417528Human1name
405116496CV3007250single nucleotide variantNM_173354.5(SIK1):c.1976+13C>TDevelopmental and epileptic encephalopathy, 30 [RCV003752365]likely benign214341753043417530Human1name
405107170CV3068213single nucleotide variantNM_173354.5(SIK1):c.1976+12C>GDevelopmental and epileptic encephalopathy, 30 [RCV003750730]likely benign214341753143417531Human1name
405111394CV3074546single nucleotide variantNM_173354.5(SIK1):c.1245+20G>ADevelopmental and epileptic encephalopathy, 30 [RCV003751538]likely benign214341933343419333Human1name
405215457CV3160647single nucleotide variantNM_173354.5(SIK1):c.1977-13T>CDevelopmental and epileptic encephalopathy, 30 [RCV003862709]likely benign214341713043417130Human1name
405225670CV3169289single nucleotide variantNM_173354.5(SIK1):c.1463-11T>GDevelopmental and epileptic encephalopathy, 30 [RCV003864312]uncertain significance214341855243418552Human1name
407455558CV3415598single nucleotide variantNM_173354.5(SIK1):c.1977-85T>Anot specified [RCV004598481]benign214341720243417202Humanname
407455604CV3415609single nucleotide variantNM_173354.5(SIK1):c.1119+85T>Cnot specified [RCV004598492]benign214341977443419774Humanname
597954460CV3754028single nucleotide variantNM_173354.5(SIK1):c.1245+18G>TDevelopmental and epileptic encephalopathy, 30 [RCV005080071]likely benign214341933543419335Human1name
597890824CV3788184single nucleotide variantNM_173354.5(SIK1):c.1977-15C>GDevelopmental and epileptic encephalopathy, 30 [RCV005125542]likely benign214341713243417132Human1name
597970687CV3802047single nucleotide variantNM_173354.5(SIK1):c.1245+15C>TDevelopmental and epileptic encephalopathy, 30 [RCV005141839]likely benign214341933843419338Human1name
13625282CV534452single nucleotide variantNM_173354.5(SIK1):c.1744+10G>ADevelopmental and epileptic encephalopathy, 30 [RCV001086018]|not provided [RCV000653193]benign214341825043418250Human1name
151751648CV1458955duplicationNM_173354.5(SIK1):c.157-9_157-8dupDevelopmental and epileptic encephalopathy, 30 [RCV002043342]likely benign|uncertain significance214342553043425531Human1name
151756014CV1513477microsatelliteNM_173354.5(SIK1):c.338-5_338-3delDevelopmental and epileptic encephalopathy, 30 [RCV001927986]likely benign|uncertain significance214342180243421804Humanname
152062863CV1663805single nucleotide variantNM_173354.5(SIK1):c.9C>T (p.Ile3=)Developmental and epileptic encephalopathy, 30 [RCV002073888]likely benign214342617043426170Human1name
127319901CV1149835single nucleotide variantNM_173354.5(SIK1):c.27G>A (p.Ala9=)Developmental and epileptic encephalopathy, 30 [RCV001504237]likely benign214342615243426152Human1name
156074453CV1890034single nucleotide variantNM_173354.5(SIK1):c.15G>C (p.Ser5=)Developmental and epileptic encephalopathy, 30 [RCV003079653]likely benign214342616443426164Human1name
405191502CV2870990single nucleotide variantNM_173354.5(SIK1):c.24C>T (p.Ser8=)Developmental and epileptic encephalopathy, 30 [RCV003589922]likely benign214342615543426155Human1name
151842584CV1379711single nucleotide variantNM_173354.5(SIK1):c.5T>G (p.Val2Gly)Developmental and epileptic encephalopathy, 30 [RCV001936297]uncertain significance214342617443426174Human1name
152155058CV1556732single nucleotide variantNM_173354.5(SIK1):c.30C>T (p.Asp10=)Developmental and epileptic encephalopathy, 30 [RCV002122306]|not provided [RCV003434416]benign|likely benign214342614943426149Human1name
152079609CV1579890single nucleotide variantNM_173354.5(SIK1):c.63C>A (p.Pro21=)Developmental and epileptic encephalopathy, 30 [RCV002076192]likely benign214342611643426116Human1name
152168899CV1613983single nucleotide variantNM_173354.5(SIK1):c.99G>A (p.Leu33=)Developmental and epileptic encephalopathy, 30 [RCV002161269]likely benign214342608043426080Human1name
152103135CV1656732deletionNM_173354.5(SIK1):c.499+13_499+55delDevelopmental and epileptic encephalopathy, 30 [RCV002115608]likely benign214342158343421625Human1name
152049399CV1657032deletionNM_173354.5(SIK1):c.500-21_500-18delDevelopmental and epileptic encephalopathy, 30 [RCV002189213]benign214342138543421388Human1name
155722752CV1814539single nucleotide variantNM_173354.5(SIK1):c.87C>T (p.Ile29=)Developmental and epileptic encephalopathy, 30 [RCV003103532]|Inborn genetic diseases [RCV002449788]|not provided [RCV003439010]likely benign214342609243426092Human2name
156409839CV1961975single nucleotide variantNM_173354.5(SIK1):c.90G>A (p.Glu30=)Developmental and epileptic encephalopathy, 30 [RCV002586953]likely benign214342608943426089Human1name
156359348CV2006913single nucleotide variantNM_173354.5(SIK1):c.2T>C (p.Met1Thr)Developmental and epileptic encephalopathy, 30 [RCV002676142]uncertain significance214342617743426177Human1name
156273167CV2018526deletionNM_173354.5(SIK1):c.972+13_972+27delDevelopmental and epileptic encephalopathy, 30 [RCV002715050]likely benign214342020743420221Human1name
405197994CV2880258deletionNM_173354.5(SIK1):c.749-22_749-14delDevelopmental and epileptic encephalopathy, 30 [RCV003590714]uncertain significance214342047143420479Human1name
405111853CV2963541single nucleotide variantNM_173354.5(SIK1):c.33C>A (p.Pro11=)Developmental and epileptic encephalopathy, 30 [RCV003751648]likely benign214342614643426146Human1name
405106122CV3037309single nucleotide variantNM_173354.5(SIK1):c.57G>A (p.Gln19=)Developmental and epileptic encephalopathy, 30 [RCV003750425]likely benign214342612243426122Human1name
404986903CV3179700deletionNM_173354.5(SIK1):c.338-25_338-20delDevelopmental and epileptic encephalopathy, 30 [RCV003881177]likely benign214342181943421824Human1name
597943423CV3765804single nucleotide variantNM_173354.5(SIK1):c.51C>A (p.Gly17=)Developmental and epileptic encephalopathy, 30 [RCV005119182]likely benign214342612843426128Human1name
13829248CV580648single nucleotide variantNM_173354.5(SIK1):c.4G>A (p.Val2Ile)Developmental and epileptic encephalopathy, 30 [RCV000969586]|Inborn genetic diseases [RCV002313535]|not provided [RCV002275130]benign|likely benign214342617543426175Human2name
15167934CV731380duplicationNM_173354.5(SIK1):c.1119+5_1119+6dupDevelopmental and epileptic encephalopathy, 30 [RCV001505847]likely benign214341984943419850Human1name
15201594CV773371single nucleotide variantNM_173354.5(SIK1):c.36G>C (p.Ala12=)Developmental and epileptic encephalopathy, 30 [RCV001506712]likely benign214342614343426143Human1name
127267788CV1085744single nucleotide variantNM_173354.5(SIK1):c.114C>T (p.Phe38=)Developmental and epileptic encephalopathy, 30 [RCV001404214]|not provided [RCV003438770]likely benign214342606543426065Human1name
127243625CV1107466single nucleotide variantNM_173354.5(SIK1):c.123G>A (p.Val41=)Developmental and epileptic encephalopathy, 30 [RCV001434849]likely benign214342605643426056Human1name
152082317CV1551895single nucleotide variantNM_173354.5(SIK1):c.204G>A (p.Leu68=)Developmental and epileptic encephalopathy, 30 [RCV002093015]likely benign214342547643425476Human1name
152164274CV1619772single nucleotide variantNM_173354.5(SIK1):c.285A>G (p.Thr95=)Developmental and epileptic encephalopathy, 30 [RCV002181505]likely benign214342202643422026Human1name
155691708CV1772602single nucleotide variantNM_173354.5(SIK1):c.14C>T (p.Ser5Leu)Developmental and epileptic encephalopathy, 30 [RCV002294941]uncertain significance214342616543426165Human1name
156418530CV1922285single nucleotide variantNM_173354.5(SIK1):c.198C>T (p.Ser66=)Developmental and epileptic encephalopathy, 30 [RCV002611727]likely benign214342548243425482Human1name
405188657CV2864883single nucleotide variantNM_173354.5(SIK1):c.282A>G (p.Glu94=)Developmental and epileptic encephalopathy, 30 [RCV003589577]likely benign214342202943422029Human1name
405117523CV3026186single nucleotide variantNM_173354.5(SIK1):c.237G>A (p.Lys79=)Developmental and epileptic encephalopathy, 30 [RCV003752508]likely benign214342544343425443Human1name
405106896CV3063823single nucleotide variantNM_173354.5(SIK1):c.13T>A (p.Ser5Thr)Developmental and epileptic encephalopathy, 30 [RCV003750673]uncertain significance214342616643426166Human1name
405254956CV3175545single nucleotide variantNM_173354.5(SIK1):c.252A>G (p.Pro84=)Developmental and epileptic encephalopathy, 30 [RCV003871812]likely benign214342542843425428Human1name
405281414CV3224104single nucleotide variantNM_173354.5(SIK1):c.25G>A (p.Ala9Thr)not specified [RCV003988486]uncertain significance214342615443426154Humanname
597901679CV3741382single nucleotide variantNM_173354.5(SIK1):c.10A>C (p.Met4Leu)Developmental and epileptic encephalopathy, 30 [RCV005072353]uncertain significance214342616943426169Human1name
597945153CV3755310single nucleotide variantNM_173354.5(SIK1):c.216T>C (p.Tyr72=)Developmental and epileptic encephalopathy, 30 [RCV005078319]likely benign214342546443425464Human1name
597927164CV3783225single nucleotide variantNM_173354.5(SIK1):c.127C>T (p.Leu43=)Developmental and epileptic encephalopathy, 30 [RCV005115911]likely benign214342605243426052Human1name
597948501CV3800781single nucleotide variantNM_173354.5(SIK1):c.276T>A (p.Val92=)Developmental and epileptic encephalopathy, 30 [RCV005135181]likely benign214342203543422035Human1name
597964380CV3830461single nucleotide variantNM_173354.5(SIK1):c.258C>T (p.Ile86=)Developmental and epileptic encephalopathy, 30 [RCV005164601]likely benign214342542243425422Human1name
13625289CV533941single nucleotide variantNM_173354.5(SIK1):c.117G>C (p.Ala39=)Developmental and epileptic encephalopathy, 30 [RCV001400626]likely benign214342606243426062Human1name
13830778CV580746single nucleotide variantNM_173354.5(SIK1):c.11T>C (p.Met4Thr)Inborn genetic diseases [RCV002318856]uncertain significance214342616843426168Human1name
15126758CV773369single nucleotide variantNM_173354.5(SIK1):c.243G>C (p.Leu81=)Developmental and epileptic encephalopathy, 30 [RCV000941437]benign214342543743425437Human1name
15179141CV773370single nucleotide variantNM_173354.5(SIK1):c.207G>A (p.Glu69=)Developmental and epileptic encephalopathy, 30 [RCV000929568]|not provided [RCV004704332]likely benign214342547343425473Human1name
126726217CV1018755single nucleotide variantNM_173354.5(SIK1):c.468G>A (p.Leu156=)Developmental and epileptic encephalopathy, 30 [RCV001331846]conflicting interpretations of pathogenicity|uncertain significance214342166943421669Human1name
126775089CV1034939deletionNM_173354.5(SIK1):c.206del (p.Glu69fs)Developmental and epileptic encephalopathy, 30 [RCV001347978]uncertain significance214342547443425474Human1name
127271362CV1085733single nucleotide variantNM_173354.5(SIK1):c.924G>T (p.Ala308=)Developmental and epileptic encephalopathy, 30 [RCV001405322]likely benign214342028243420282Human1name
127260628CV1085735single nucleotide variantNM_173354.5(SIK1):c.702G>A (p.Gln234=)Developmental and epileptic encephalopathy, 30 [RCV001420087]likely benign214342105643421056Human1name
127250386CV1085736single nucleotide variantNM_173354.5(SIK1):c.690G>A (p.Pro230=)Developmental and epileptic encephalopathy, 30 [RCV001417565]|Inborn genetic diseases [RCV002377655]|not provided [RCV005428235]likely benign214342106843421068Human2name
127245969CV1085737single nucleotide variantNM_173354.5(SIK1):c.642G>A (p.Leu214=)Developmental and epileptic encephalopathy, 30 [RCV001393983]likely benign214342111643421116Human1name
127256898CV1085738single nucleotide variantNM_173354.5(SIK1):c.513G>C (p.Gly171=)Developmental and epileptic encephalopathy, 30 [RCV001401333]likely benign214342135443421354Human1name
127257475CV1085740single nucleotide variantNM_173354.5(SIK1):c.423C>T (p.His141=)Developmental and epileptic encephalopathy, 30 [RCV001401470]likely benign214342171443421714Human1name
127260186CV1085741single nucleotide variantNM_173354.5(SIK1):c.348T>G (p.Thr116=)Developmental and epileptic encephalopathy, 30 [RCV001419995]likely benign214342178943421789Human1name
127230569CV1085742single nucleotide variantNM_173354.5(SIK1):c.303C>T (p.Ile101=)Developmental and epileptic encephalopathy, 30 [RCV001394745]likely benign214342200843422008Human1name
127236366CV1085743single nucleotide variantNM_173354.5(SIK1):c.300C>T (p.Tyr100=)Developmental and epileptic encephalopathy, 30 [RCV001396883]likely benign214342201143422011Human1name
127256917CV1107455single nucleotide variantNM_173354.5(SIK1):c.976C>T (p.Leu326=)Developmental and epileptic encephalopathy, 30 [RCV001426940]likely benign214342000243420002Human1name
127284157CV1107456single nucleotide variantNM_173354.5(SIK1):c.804C>A (p.Thr268=)Developmental and epileptic encephalopathy, 30 [RCV001449029]likely benign214342040243420402Human1name
127241821CV1107458single nucleotide variantNM_173354.5(SIK1):c.672C>T (p.Phe224=)Developmental and epileptic encephalopathy, 30 [RCV001434492]likely benign214342108643421086Human1name
127233192CV1107459single nucleotide variantNM_173354.5(SIK1):c.669C>T (p.Pro223=)Developmental and epileptic encephalopathy, 30 [RCV001421674]likely benign214342108943421089Human1name
127256259CV1107460single nucleotide variantNM_173354.5(SIK1):c.627C>T (p.Ser209=)Developmental and epileptic encephalopathy, 30 [RCV001437649]likely benign214342113143421131Human1name
127263702CV1107461single nucleotide variantNM_173354.5(SIK1):c.606C>A (p.Gly202=)Developmental and epileptic encephalopathy, 30 [RCV001439361]likely benign214342126143421261Human1name
127276861CV1107462single nucleotide variantNM_173354.5(SIK1):c.573C>T (p.Ala191=)Developmental and epileptic encephalopathy, 30 [RCV001444067]likely benign214342129443421294Human1name
127268801CV1107464single nucleotide variantNM_173354.5(SIK1):c.381G>A (p.Arg127=)Developmental and epileptic encephalopathy, 30 [RCV001430092]likely benign214342175643421756Human1name
127291902CV1128857single nucleotide variantNM_173354.5(SIK1):c.912C>T (p.Tyr304=)Developmental and epileptic encephalopathy, 30 [RCV001476195]|not specified [RCV005237844]likely benign214342029443420294Human1name
127327808CV1128858single nucleotide variantNM_173354.5(SIK1):c.807C>T (p.Ile269=)Developmental and epileptic encephalopathy, 30 [RCV001469263]likely benign214342039943420399Human1name
127300041CV1128859single nucleotide variantNM_173354.5(SIK1):c.705G>A (p.Arg235=)Developmental and epileptic encephalopathy, 30 [RCV001453751]likely benign214342105343421053Human1name
127304404CV1128861single nucleotide variantNM_173354.5(SIK1):c.564G>T (p.Pro188=)Developmental and epileptic encephalopathy, 30 [RCV001462217]likely benign214342130343421303Human1name
127314579CV1128862single nucleotide variantNM_173354.5(SIK1):c.378G>A (p.Ala126=)Developmental and epileptic encephalopathy, 30 [RCV001465017]likely benign214342175943421759Human1name
127304997CV1149827single nucleotide variantNM_173354.5(SIK1):c.861C>T (p.Pro287=)Developmental and epileptic encephalopathy, 30 [RCV001479682]likely benign214342034543420345Human1name
127293496CV1149828single nucleotide variantNM_173354.5(SIK1):c.855G>T (p.Pro285=)Developmental and epileptic encephalopathy, 30 [RCV001496798]likely benign214342035143420351Human1name
127321199CV1149829single nucleotide variantNM_173354.5(SIK1):c.840T>C (p.Ala280=)Developmental and epileptic encephalopathy, 30 [RCV001504688]likely benign214342036643420366Human1name
127330296CV1149830single nucleotide variantNM_173354.5(SIK1):c.789C>T (p.Pro263=)Developmental and epileptic encephalopathy, 30 [RCV001488023]likely benign214342041743420417Human1name
127289881CV1149831single nucleotide variantNM_173354.5(SIK1):c.456C>T (p.Thr152=)Developmental and epileptic encephalopathy, 30 [RCV001495798]|Inborn genetic diseases [RCV002334535]likely benign214342168143421681Human2name
127320437CV1149832single nucleotide variantNM_173354.5(SIK1):c.402G>C (p.Leu134=)Developmental and epileptic encephalopathy, 30 [RCV001484195]likely benign214342173543421735Human1name
127333395CV1149833single nucleotide variantNM_173354.5(SIK1):c.354C>T (p.Asn118=)Developmental and epileptic encephalopathy, 30 [RCV001490161]likely benign214342178343421783Human1name
127293235CV1149834duplicationNM_173354.5(SIK1):c.211dup (p.Ile71fs)Developmental and epileptic encephalopathy, 30 [RCV001496710]likely benign214342546843425469Human1name
150529191CV1288744single nucleotide variantNM_173354.5(SIK1):c.405G>A (p.Ser135=)Developmental and epileptic encephalopathy, 30 [RCV003771879]|not provided [RCV001727212]likely benign214342173243421732Human1name
151851333CV1391810single nucleotide variantNM_173354.5(SIK1):c.32C>G (p.Pro11Arg)Developmental and epileptic encephalopathy, 30 [RCV002033216]uncertain significance214342614743426147Human1name
151887951CV1449476single nucleotide variantNM_173354.5(SIK1):c.74G>T (p.Gly25Val)Developmental and epileptic encephalopathy, 30 [RCV002038295]uncertain significance214342610543426105Human1name
151754482CV1453850single nucleotide variantNM_173354.5(SIK1):c.31C>T (p.Pro11Ser)Developmental and epileptic encephalopathy, 30 [RCV001913313]uncertain significance214342614843426148Human1name
151848760CV1511782single nucleotide variantNM_173354.5(SIK1):c.73G>A (p.Gly25Ser)Developmental and epileptic encephalopathy, 30 [RCV001978646]uncertain significance214342610643426106Human1name
152037469CV1524903single nucleotide variantNM_173354.5(SIK1):c.943C>T (p.Leu315=)Developmental and epileptic encephalopathy, 30 [RCV002165187]likely benign214342026343420263Human1name
152114868CV1537423single nucleotide variantNM_173354.5(SIK1):c.666C>T (p.Leu222=)Developmental and epileptic encephalopathy, 30 [RCV002134967]likely benign214342109243421092Human1name
152171317CV1544090single nucleotide variantNM_173354.5(SIK1):c.435C>T (p.Ile145=)Developmental and epileptic encephalopathy, 30 [RCV002162067]likely benign214342170243421702Human1name
152120950CV1576284single nucleotide variantNM_173354.5(SIK1):c.798C>T (p.Arg266=)Developmental and epileptic encephalopathy, 30 [RCV002198044]likely benign214342040843420408Human1name
152156385CV1589562single nucleotide variantNM_173354.5(SIK1):c.900C>T (p.Asn300=)Developmental and epileptic encephalopathy, 30 [RCV002122492]likely benign214342030643420306Human1name
152047418CV1591386single nucleotide variantNM_173354.5(SIK1):c.850T>C (p.Leu284=)Developmental and epileptic encephalopathy, 30 [RCV002188988]likely benign214342035643420356Human1name
152041502CV1617895single nucleotide variantNM_173354.5(SIK1):c.396A>G (p.Gln132=)Developmental and epileptic encephalopathy, 30 [RCV002206404]likely benign214342174143421741Human1name
152157033CV1629791single nucleotide variantNM_173354.5(SIK1):c.870C>T (p.Pro290=)Developmental and epileptic encephalopathy, 30 [RCV002202774]likely benign214342033643420336Human1name
152172856CV1641757duplicationNM_173354.5(SIK1):c.1463-27_1463-19dupDevelopmental and epileptic encephalopathy, 30 [RCV002183982]likely benign214341855943418560Human1name
152168151CV1645064single nucleotide variantNM_173354.5(SIK1):c.552T>C (p.Cys184=)Developmental and epileptic encephalopathy, 30 [RCV002142343]likely benign214342131543421315Human1name
152129210CV1650537single nucleotide variantNM_173354.5(SIK1):c.849C>T (p.Cys283=)Developmental and epileptic encephalopathy, 30 [RCV002118853]|Inborn genetic diseases [RCV002443229]likely benign214342035743420357Human2name
152119855CV1654826single nucleotide variantNM_173354.5(SIK1):c.466C>T (p.Leu156=)Developmental and epileptic encephalopathy, 30 [RCV002216629]likely benign214342167143421671Human1name
152080565CV1663663single nucleotide variantNM_173354.5(SIK1):c.600T>C (p.Tyr200=)Developmental and epileptic encephalopathy, 30 [RCV002149255]likely benign214342126743421267Human1name
155673588CV1801377single nucleotide variantNM_173354.5(SIK1):c.633C>T (p.Gly211=)Developmental and epileptic encephalopathy, 30 [RCV003103292]|Inborn genetic diseases [RCV002368925]likely benign214342112543421125Human2name
156388987CV1955140single nucleotide variantNM_173354.5(SIK1):c.801C>T (p.Ile267=)Developmental and epileptic encephalopathy, 30 [RCV002583704]likely benign214342040543420405Human1name
156004729CV2014958single nucleotide variantNM_173354.5(SIK1):c.525G>A (p.Lys175=)Developmental and epileptic encephalopathy, 30 [RCV002690217]likely benign214342134243421342Human1name
156254765CV2025893single nucleotide variantNM_173354.5(SIK1):c.47A>G (p.Gln16Arg)Developmental and epileptic encephalopathy, 30 [RCV002746111]uncertain significance214342613243426132Human1name
156135122CV2044300single nucleotide variantNM_173354.5(SIK1):c.654C>T (p.Val218=)Developmental and epileptic encephalopathy, 30 [RCV002786316]likely benign214342110443421104Human1name
156014411CV2051643single nucleotide variantNM_173354.5(SIK1):c.891C>T (p.Tyr297=)Developmental and epileptic encephalopathy, 30 [RCV002820297]likely benign214342031543420315Human1name
155986357CV2070410single nucleotide variantNM_173354.5(SIK1):c.894C>G (p.Thr298=)Developmental and epileptic encephalopathy, 30 [RCV002842757]likely benign214342031243420312Human1name
156050600CV2093492single nucleotide variantNM_173354.5(SIK1):c.720C>T (p.Arg240=)Developmental and epileptic encephalopathy, 30 [RCV002867772]likely benign214342103843421038Human1name
156009226CV2099942single nucleotide variantNM_173354.5(SIK1):c.993T>C (p.Tyr331=)Developmental and epileptic encephalopathy, 30 [RCV002909013]|not specified [RCV005239534]likely benign214341998543419985Human1name
155977825CV2100185single nucleotide variantNM_173354.5(SIK1):c.948C>A (p.Gly316=)Developmental and epileptic encephalopathy, 30 [RCV002881786]likely benign214342025843420258Human1name
156377589CV2120767single nucleotide variantNM_173354.5(SIK1):c.43G>T (p.Gly15Cys)Developmental and epileptic encephalopathy, 30 [RCV002942868]uncertain significance214342613643426136Human1name
156183701CV2151959single nucleotide variantNM_173354.5(SIK1):c.38G>A (p.Gly13Asp)Developmental and epileptic encephalopathy, 30 [RCV003005788]uncertain significance214342614143426141Human1name
155994246CV2171455single nucleotide variantNM_173354.5(SIK1):c.693G>C (p.Thr231=)Developmental and epileptic encephalopathy, 30 [RCV003034471]likely benign214342106543421065Human1name
405188558CV2854779single nucleotide variantNM_173354.5(SIK1):c.28G>T (p.Asp10Tyr)Developmental and epileptic encephalopathy, 30 [RCV003589566]uncertain significance214342615143426151Human1name
405189829CV2859432single nucleotide variantNM_173354.5(SIK1):c.501T>C (p.Asp167=)Developmental and epileptic encephalopathy, 30 [RCV003589715]likely benign214342136643421366Human1name
405178907CV2886761single nucleotide variantNM_173354.5(SIK1):c.570C>T (p.Ala190=)Developmental and epileptic encephalopathy, 30 [RCV003588292]likely benign214342129743421297Human1name
405184213CV2895595single nucleotide variantNM_173354.5(SIK1):c.402G>A (p.Leu134=)Developmental and epileptic encephalopathy, 30 [RCV003589014]likely benign214342173543421735Human1name
405194705CV2931164single nucleotide variantNM_173354.5(SIK1):c.765C>A (p.Ile255=)Developmental and epileptic encephalopathy, 30 [RCV003590310]likely benign214342044143420441Human1name
405109284CV2952356single nucleotide variantNM_173354.5(SIK1):c.49G>T (p.Gly17Cys)Developmental and epileptic encephalopathy, 30 [RCV003751243]uncertain significance214342613043426130Human1name
405114765CV2995080single nucleotide variantNM_173354.5(SIK1):c.70G>C (p.Val24Leu)Developmental and epileptic encephalopathy, 30 [RCV003752054]uncertain significance214342610943426109Human1name
405115445CV3004844single nucleotide variantNM_173354.5(SIK1):c.657C>T (p.Cys219=)Developmental and epileptic encephalopathy, 30 [RCV003752231]likely benign214342110143421101Human1name
405118183CV3023842single nucleotide variantNM_173354.5(SIK1):c.357G>A (p.Gly119=)Developmental and epileptic encephalopathy, 30 [RCV003752572]likely benign214342178043421780Human1name
405106106CV3044163single nucleotide variantNM_173354.5(SIK1):c.42G>C (p.Gln14His)Developmental and epileptic encephalopathy, 30 [RCV003750504]uncertain significance214342613743426137Human1name
405111430CV3074734single nucleotide variantNM_173354.5(SIK1):c.648C>T (p.Val216=)Developmental and epileptic encephalopathy, 30 [RCV003751546]likely benign214342111043421110Human1name
405110588CV3078195single nucleotide variantNM_173354.5(SIK1):c.645C>T (p.Tyr215=)Developmental and epileptic encephalopathy, 30 [RCV003751368]likely benign214342111343421113Human1name
402517604CV3135861single nucleotide variantNM_173354.5(SIK1):c.534G>A (p.Glu178=)Developmental and epileptic encephalopathy, 30 [RCV003824487]likely benign214342133343421333Human1name
597837241CV3761468single nucleotide variantNM_173354.5(SIK1):c.576G>A (p.Pro192=)Developmental and epileptic encephalopathy, 30 [RCV005085839]likely benign214342129143421291Human1name
597895131CV3763552single nucleotide variantNM_173354.5(SIK1):c.921G>A (p.Gln307=)Developmental and epileptic encephalopathy, 30 [RCV005111133]likely benign214342028543420285Human1name
597876972CV3813300single nucleotide variantNM_173354.5(SIK1):c.945G>A (p.Leu315=)Developmental and epileptic encephalopathy, 30 [RCV005149236]likely benign214342026143420261Human1name
597915430CV3833884single nucleotide variantNM_173354.5(SIK1):c.873C>G (p.Ala291=)Developmental and epileptic encephalopathy, 30 [RCV005183243]likely benign214342033343420333Human1name
616933639CV4011596single nucleotide variantNM_173354.5(SIK1):c.804C>T (p.Thr268=)not specified [RCV005408144]likely benign214342040243420402Humanname
13497901CV469670single nucleotide variantNM_173354.5(SIK1):c.951G>T (p.Val317=)Developmental and epileptic encephalopathy, 30 [RCV001086260]|Inborn genetic diseases [RCV002315036]|not provided [RCV000713297]benign|likely benign214342025543420255Human2name
13497703CV469674single nucleotide variantNM_173354.5(SIK1):c.906C>T (p.Gly302=)Developmental and epileptic encephalopathy, 30 [RCV001083722]|Inborn genetic diseases [RCV002311891]|not provided [RCV000713294]|not specified [RCV005000213]benign214342030043420300Human2name
13497544CV469678single nucleotide variantNM_173354.5(SIK1):c.693G>A (p.Thr231=)Developmental and epileptic encephalopathy, 30 [RCV001084216]|Inborn genetic diseases [RCV002311889]|not provided [RCV000713293]benign214342106543421065Human2name
13465890CV469679single nucleotide variantNM_173354.5(SIK1):c.306C>T (p.Val102=)Developmental and epileptic encephalopathy, 30 [RCV000548803]|Inborn genetic diseases [RCV002448791]likely benign214342200543422005Human2name
13467642CV471702single nucleotide variantNM_173354.5(SIK1):c.930T>C (p.Gly310=)Developmental and epileptic encephalopathy, 30 [RCV001082117]|Inborn genetic diseases [RCV002311892]|not provided [RCV000713295]|not specified [RCV005000214]benign214342027643420276Human2name
13466083CV471703single nucleotide variantNM_173354.5(SIK1):c.879C>T (p.Ser293=)Developmental and epileptic encephalopathy, 30 [RCV000549679]likely benign214342032743420327Human1name
13625283CV533924single nucleotide variantNM_173354.5(SIK1):c.924G>A (p.Ala308=)Developmental and epileptic encephalopathy, 30 [RCV000653194]|Inborn genetic diseases [RCV002317897]benign|likely benign214342028243420282Human2name
13625296CV533977single nucleotide variantNM_173354.5(SIK1):c.966G>A (p.Thr322=)Developmental and epileptic encephalopathy, 30 [RCV000653208]|Inborn genetic diseases [RCV002315980]|not provided [RCV003437387]benign|likely benign214342024043420240Human2name
13706271CV537396single nucleotide variantNM_173354.5(SIK1):c.408C>T (p.Ala136=)Developmental and epileptic encephalopathy, 30 [RCV001493074]|not provided [RCV000658925]likely benign|conflicting interpretations of pathogenicity|uncertain significance214342172943421729Human1name
13801458CV577897single nucleotide variantNM_173354.5(SIK1):c.948C>T (p.Gly316=)Developmental and epileptic encephalopathy, 30 [RCV001522162]|Inborn genetic diseases [RCV002312253]|not provided [RCV000713296]benign214342025843420258Human2name
13801455CV577899single nucleotide variantNM_173354.5(SIK1):c.43G>A (p.Gly15Ser)Developmental and epileptic encephalopathy, 30 [RCV001522240]|Inborn genetic diseases [RCV002312252]|not provided [RCV000713292]|not specified [RCV004597870]benign214342613643426136Human2name
13830779CV580603single nucleotide variantNM_173354.5(SIK1):c.345G>A (p.Leu115=)Developmental and epileptic encephalopathy, 30 [RCV002067070]|Inborn genetic diseases [RCV002318857]likely benign214342179243421792Human2name
13828938CV580744single nucleotide variantNM_173354.5(SIK1):c.546G>T (p.Thr182=)Developmental and epileptic encephalopathy, 30 [RCV001509927]|Inborn genetic diseases [RCV002316175]|not provided [RCV003432751]benign|likely benign214342132143421321Human2name
15182525CV705722single nucleotide variantNM_173354.5(SIK1):c.453G>A (p.Lys151=)Developmental and epileptic encephalopathy, 30 [RCV000952238]|Inborn genetic diseases [RCV002337001]|not provided [RCV003432960]benign|likely benign214342168443421684Human2name
15143638CV717232single nucleotide variantNM_173354.5(SIK1):c.855G>A (p.Pro285=)Developmental and epileptic encephalopathy, 30 [RCV000966701]|not provided [RCV003438635]benign|likely benign214342035143420351Human1name
15176039CV742668single nucleotide variantNM_173354.5(SIK1):c.564G>A (p.Pro188=)Developmental and epileptic encephalopathy, 30 [RCV000906345]likely benign214342130343421303Human1name
15118829CV757849single nucleotide variantNM_173354.5(SIK1):c.999C>T (p.His333=)Developmental and epileptic encephalopathy, 30 [RCV001443992]likely benign214341997943419979Human1name
15151067CV757850single nucleotide variantNM_173354.5(SIK1):c.901C>T (p.Leu301=)Developmental and epileptic encephalopathy, 30 [RCV000923597]likely benign214342030543420305Human1name
15187383CV773366single nucleotide variantNM_173354.5(SIK1):c.984C>T (p.Asn328=)Developmental and epileptic encephalopathy, 30 [RCV002068677]likely benign214341999443419994Human1name
15107074CV773367single nucleotide variantNM_173354.5(SIK1):c.591G>C (p.Gly197=)Developmental and epileptic encephalopathy, 30 [RCV001467181]likely benign214342127643421276Human1name
15187579CV773368single nucleotide variantNM_173354.5(SIK1):c.400C>T (p.Leu134=)Developmental and epileptic encephalopathy, 30 [RCV001425721]likely benign214342173743421737Human1name
15145719CV786509single nucleotide variantNM_173354.5(SIK1):c.372C>T (p.Asn124=)Developmental and epileptic encephalopathy, 30 [RCV000983714]likely benign214342176543421765Human1name
26897191CV848853single nucleotide variantNM_173354.5(SIK1):c.91C>G (p.Arg31Gly)Developmental and epileptic encephalopathy, 30 [RCV001048407]likely benign|uncertain significance214342608843426088Human1name
26917180CV848854single nucleotide variantNM_173354.5(SIK1):c.76T>G (p.Phe26Val)Developmental and epileptic encephalopathy, 30 [RCV001056830]uncertain significance214342610343426103Human1name
26889945CV848855single nucleotide variantNM_173354.5(SIK1):c.50G>A (p.Gly17Asp)Developmental and epileptic encephalopathy, 30 [RCV001067654]uncertain significance214342612943426129Human1name
26920772CV848856single nucleotide variantNM_173354.5(SIK1):c.37G>A (p.Gly13Ser)Developmental and epileptic encephalopathy, 30 [RCV001060322]uncertain significance214342614243426142Human1name
38459993CV951254single nucleotide variantNM_173354.5(SIK1):c.88G>C (p.Glu30Gln)Developmental and epileptic encephalopathy, 30 [RCV001229257]uncertain significance214342609143426091Human1name
38484740CV951255single nucleotide variantNM_173354.5(SIK1):c.46C>G (p.Gln16Glu)Developmental and epileptic encephalopathy, 30 [RCV001236492]uncertain significance214342613343426133Human1name
126760656CV1014372single nucleotide variantNM_173354.5(SIK1):c.223G>A (p.Val75Ile)Developmental and epileptic encephalopathy, 30 [RCV001318402]uncertain significance214342545743425457Human1name
126748044CV1014373single nucleotide variantNM_173354.5(SIK1):c.140G>T (p.Arg47Leu)Developmental and epileptic encephalopathy, 30 [RCV001326265]uncertain significance214342603943426039Human1name
126730749CV1034940single nucleotide variantNM_173354.5(SIK1):c.114C>A (p.Phe38Leu)Developmental and epileptic encephalopathy, 30 [RCV001349313]uncertain significance214342606543426065Human1name
126911730CV1051915single nucleotide variantNM_173354.5(SIK1):c.1581G>A (p.Gln527=)Developmental and epileptic encephalopathy, 30 [RCV001369365]likely benign|uncertain significance214341842343418423Human1name
127237886CV1085723single nucleotide variantNM_173354.5(SIK1):c.2139C>T (p.Leu713=)Developmental and epileptic encephalopathy, 30 [RCV001392387]|Inborn genetic diseases [RCV002432080]likely benign214341695543416955Human2name
127243981CV1085724single nucleotide variantNM_173354.5(SIK1):c.2001G>A (p.Pro667=)Developmental and epileptic encephalopathy, 30 [RCV001416278]likely benign214341709343417093Human1name
127248564CV1085726single nucleotide variantNM_173354.5(SIK1):c.1551C>T (p.Pro517=)Developmental and epileptic encephalopathy, 30 [RCV001399422]|not provided [RCV004704526]likely benign214341845343418453Human1name
127236917CV1085727single nucleotide variantNM_173354.5(SIK1):c.1539G>A (p.Ala513=)Developmental and epileptic encephalopathy, 30 [RCV001392186]likely benign214341846543418465Human1name
127281331CV1085728single nucleotide variantNM_173354.5(SIK1):c.1518C>T (p.Asp506=)Developmental and epileptic encephalopathy, 30 [RCV001410387]|Inborn genetic diseases [RCV002395926]likely benign214341848643418486Human2name
127251823CV1085730single nucleotide variantNM_173354.5(SIK1):c.1275C>T (p.Cys425=)Developmental and epileptic encephalopathy, 30 [RCV001400209]likely benign214341920843419208Human1name
127248471CV1085731single nucleotide variantNM_173354.5(SIK1):c.1101G>A (p.Ser367=)Developmental and epileptic encephalopathy, 30 [RCV001399400]|Inborn genetic diseases [RCV002456629]likely benign214341987743419877Human2name
127275607CV1085732single nucleotide variantNM_173354.5(SIK1):c.1050T>C (p.Asn350=)Developmental and epileptic encephalopathy, 30 [RCV001406783]likely benign214341992843419928Human1name
127267364CV1107443single nucleotide variantNM_173354.5(SIK1):c.2334G>A (p.Thr778=)Developmental and epileptic encephalopathy, 30 [RCV001429658]likely benign214341676043416760Human1name
127241276CV1107444single nucleotide variantNM_173354.5(SIK1):c.2193C>T (p.His731=)Developmental and epileptic encephalopathy, 30 [RCV001423531]likely benign214341690143416901Human1name
127265289CV1107445single nucleotide variantNM_173354.5(SIK1):c.2151C>G (p.Gly717=)Developmental and epileptic encephalopathy, 30 [RCV001439900]likely benign214341694343416943Human1name
127281880CV1107446single nucleotide variantNM_173354.5(SIK1):c.2091C>T (p.Leu697=)Developmental and epileptic encephalopathy, 30 [RCV001447452]|not provided [RCV004704563]likely benign214341700343417003Human1name
127259221CV1107447single nucleotide variantNM_173354.5(SIK1):c.2052T>C (p.Phe684=)Developmental and epileptic encephalopathy, 30 [RCV001427556]likely benign214341704243417042Human1name
127266250CV1107451single nucleotide variantNM_173354.5(SIK1):c.1413G>A (p.Arg471=)Developmental and epileptic encephalopathy, 30 [RCV001429351]likely benign214341907043419070Human1name
127273547CV1107452single nucleotide variantNM_173354.5(SIK1):c.1137T>C (p.Leu379=)Developmental and epileptic encephalopathy, 30 [RCV001442588]|Inborn genetic diseases [RCV002456739]likely benign214341946143419461Human2name
127262269CV1107454single nucleotide variantNM_173354.5(SIK1):c.1059C>T (p.Cys353=)Developmental and epileptic encephalopathy, 30 [RCV001428257]|Inborn genetic diseases [RCV002404999]likely benign214341991943419919Human2name
127296690CV1128846single nucleotide variantNM_173354.5(SIK1):c.2118C>T (p.Leu706=)Developmental and epileptic encephalopathy, 30 [RCV001477430]likely benign214341697643416976Human1name
127319500CV1128847single nucleotide variantNM_173354.5(SIK1):c.2013C>G (p.Pro671=)Developmental and epileptic encephalopathy, 30 [RCV001466558]likely benign214341708143417081Human1name
127300699CV1128848single nucleotide variantNM_173354.5(SIK1):c.1914C>T (p.His638=)Developmental and epileptic encephalopathy, 30 [RCV001453958]likely benign214341760543417605Human1name
127290387CV1128849single nucleotide variantNM_173354.5(SIK1):c.1911G>A (p.Leu637=)Developmental and epileptic encephalopathy, 30 [RCV001451226]|not provided [RCV004704566]likely benign214341760843417608Human1name
127303217CV1128850single nucleotide variantNM_173354.5(SIK1):c.1887C>T (p.His629=)Developmental and epileptic encephalopathy, 30 [RCV001461880]likely benign214341763243417632Human1name
127318181CV1128851single nucleotide variantNM_173354.5(SIK1):c.1698C>A (p.Val566=)Developmental and epileptic encephalopathy, 30 [RCV001466099]likely benign214341830643418306Human1name
127322599CV1128852single nucleotide variantNM_173354.5(SIK1):c.1593C>T (p.Gly531=)Developmental and epileptic encephalopathy, 30 [RCV001467668]likely benign214341841143418411Human1name
127336154CV1128855single nucleotide variantNM_173354.5(SIK1):c.1353G>A (p.Gly451=)Developmental and epileptic encephalopathy, 30 [RCV001474790]likely benign214341913043419130Human1name
127288621CV1128856single nucleotide variantNM_173354.5(SIK1):c.1260G>C (p.Pro420=)Developmental and epileptic encephalopathy, 30 [RCV001450541]likely benign214341922343419223Human1name
127333319CV1149818single nucleotide variantNM_173354.5(SIK1):c.2211C>T (p.Gly737=)Developmental and epileptic encephalopathy, 30 [RCV001490097]likely benign214341688343416883Human1name
127327370CV1149819single nucleotide variantNM_173354.5(SIK1):c.2109G>A (p.Thr703=)Developmental and epileptic encephalopathy, 30 [RCV001486334]likely benign214341698543416985Human1name
127308724CV1149820single nucleotide variantNM_173354.5(SIK1):c.2013C>T (p.Pro671=)Developmental and epileptic encephalopathy, 30 [RCV001500852]likely benign214341708143417081Human1name
127300365CV1149821single nucleotide variantNM_173354.5(SIK1):c.1920C>T (p.Gly640=)Developmental and epileptic encephalopathy, 30 [RCV001498577]likely benign214341759943417599Human1name
127301507CV1149822single nucleotide variantNM_173354.5(SIK1):c.1635G>A (p.Ser545=)Developmental and epileptic encephalopathy, 30 [RCV001498861]|not provided [RCV004584915]likely benign214341836943418369Human1name
127303390CV1149823single nucleotide variantNM_173354.5(SIK1):c.1515T>C (p.Ser505=)Developmental and epileptic encephalopathy, 30 [RCV001499386]likely benign214341848943418489Human1name
127321359CV1149824single nucleotide variantNM_173354.5(SIK1):c.1299C>T (p.Pro433=)Developmental and epileptic encephalopathy, 30 [RCV001504734]|Inborn genetic diseases [RCV002384850]likely benign214341918443419184Human2name
127312313CV1149825single nucleotide variantNM_173354.5(SIK1):c.1236G>A (p.Ser412=)Developmental and epileptic encephalopathy, 30 [RCV001501889]likely benign214341936243419362Human1name
127320647CV1159003single nucleotide variantNM_173354.5(SIK1):c.1488G>A (p.Thr496=)Developmental and epileptic encephalopathy, 30 [RCV001522742]|Inborn genetic diseases [RCV002388571]benign214341851643418516Human2name
150548404CV1316308single nucleotide variantNM_173354.5(SIK1):c.189A>C (p.Leu63Phe)Inborn genetic diseases [RCV002544293]|not provided [RCV001786109]uncertain significance214342549143425491Human1name
151862469CV1353478single nucleotide variantNM_173354.5(SIK1):c.1746G>T (p.Gly582=)Developmental and epileptic encephalopathy, 30 [RCV001924176]likely benign|uncertain significance214341777343417773Human1name
151841818CV1379536single nucleotide variantNM_173354.5(SIK1):c.185G>T (p.Arg62Leu)Developmental and epileptic encephalopathy, 30 [RCV001936213]uncertain significance214342549543425495Human1name
151867526CV1429472single nucleotide variantNM_173354.5(SIK1):c.1587G>A (p.Leu529=)Developmental and epileptic encephalopathy, 30 [RCV002035242]likely benign214341841743418417Human1name
151838006CV1445295single nucleotide variantNM_173354.5(SIK1):c.200A>G (p.Asn67Ser)Developmental and epileptic encephalopathy, 30 [RCV001994400]uncertain significance214342548043425480Human1name
151738811CV1455116single nucleotide variantNM_173354.5(SIK1):c.2151C>T (p.Gly717=)Developmental and epileptic encephalopathy, 30 [RCV002005608]likely benign|uncertain significance214341694343416943Human1name
151741814CV1466920single nucleotide variantNM_173354.5(SIK1):c.209A>G (p.Lys70Arg)Developmental and epileptic encephalopathy, 30 [RCV001911995]uncertain significance214342547143425471Human1name
151753693CV1501345single nucleotide variantNM_173354.5(SIK1):c.2013C>A (p.Pro671=)Developmental and epileptic encephalopathy, 30 [RCV001969458]likely benign|uncertain significance214341708143417081Human1name
151858200CV1503487single nucleotide variantNM_173354.5(SIK1):c.1143C>A (p.Thr381=)Developmental and epileptic encephalopathy, 30 [RCV001996794]uncertain significance214341945543419455Human1name
151773548CV1504930deletionNM_173354.5(SIK1):c.9_11del (p.Ile3del)Developmental and epileptic encephalopathy, 30 [RCV001988467]uncertain significance214342616843426170Human1name
152042885CV1522257single nucleotide variantNM_173354.5(SIK1):c.2073C>A (p.Gly691=)Developmental and epileptic encephalopathy, 30 [RCV002088189]likely benign214341702143417021Human1name
152166346CV1524335single nucleotide variantNM_173354.5(SIK1):c.2340C>T (p.Val780=)Developmental and epileptic encephalopathy, 30 [RCV002141906]likely benign214341675443416754Human1name
152083236CV1526326single nucleotide variantNM_173354.5(SIK1):c.1086G>A (p.Pro362=)Developmental and epileptic encephalopathy, 30 [RCV002170819]likely benign214341989243419892Human1name
152117505CV1541167single nucleotide variantNM_173354.5(SIK1):c.1869C>T (p.Gly623=)Developmental and epileptic encephalopathy, 30 [RCV002197594]likely benign214341765043417650Human1name
152067926CV1547557single nucleotide variantNM_173354.5(SIK1):c.2208C>G (p.Thr736=)Developmental and epileptic encephalopathy, 30 [RCV002074701]likely benign214341688643416886Human1name
152083973CV1554817single nucleotide variantNM_173354.5(SIK1):c.1155A>C (p.Arg385=)Developmental and epileptic encephalopathy, 30 [RCV002211791]likely benign214341944343419443Human1name
152125326CV1580761single nucleotide variantNM_173354.5(SIK1):c.1434C>T (p.Ser478=)Developmental and epileptic encephalopathy, 30 [RCV002082131]likely benign214341904943419049Human1name
152124030CV1587344single nucleotide variantNM_173354.5(SIK1):c.2004C>T (p.Ala668=)Developmental and epileptic encephalopathy, 30 [RCV002136083]likely benign214341709043417090Human1name
152045285CV1600105single nucleotide variantNM_173354.5(SIK1):c.1479C>G (p.Pro493=)Developmental and epileptic encephalopathy, 30 [RCV002088481]likely benign214341852543418525Human1name
152037570CV1605656single nucleotide variantNM_173354.5(SIK1):c.2112G>C (p.Ser704=)Developmental and epileptic encephalopathy, 30 [RCV002087472]likely benign214341698243416982Human1name
152070637CV1628444single nucleotide variantNM_173354.5(SIK1):c.2133C>G (p.Pro711=)Developmental and epileptic encephalopathy, 30 [RCV002169243]likely benign214341696143416961Human1name
152085494CV1633506single nucleotide variantNM_173354.5(SIK1):c.1635G>T (p.Ser545=)Developmental and epileptic encephalopathy, 30 [RCV002113329]likely benign214341836943418369Human1name
152107656CV1634639single nucleotide variantNM_173354.5(SIK1):c.1563T>C (p.Ser521=)Developmental and epileptic encephalopathy, 30 [RCV002079822]likely benign214341844143418441Human1name
152130935CV1636848single nucleotide variantNM_173354.5(SIK1):c.1191G>C (p.Val397=)Developmental and epileptic encephalopathy, 30 [RCV002199309]likely benign214341940743419407Human1name
152113267CV1644560single nucleotide variantNM_173354.5(SIK1):c.1605G>T (p.Pro535=)Developmental and epileptic encephalopathy, 30 [RCV002174599]likely benign214341839943418399Human1name
152116632CV1645741single nucleotide variantNM_173354.5(SIK1):c.2130G>A (p.Pro710=)Developmental and epileptic encephalopathy, 30 [RCV002175016]likely benign214341696443416964Human1name
152137517CV1652360single nucleotide variantNM_173354.5(SIK1):c.1410G>C (p.Arg470=)Developmental and epileptic encephalopathy, 30 [RCV002083712]likely benign214341907343419073Human1name
152173703CV1655787single nucleotide variantNM_173354.5(SIK1):c.2037G>A (p.Pro679=)Developmental and epileptic encephalopathy, 30 [RCV002184264]likely benign214341705743417057Human1name
152155069CV1658057single nucleotide variantNM_173354.5(SIK1):c.1419C>T (p.Thr473=)Developmental and epileptic encephalopathy, 30 [RCV002180021]likely benign214341906443419064Human1name
152131732CV1660352single nucleotide variantNM_173354.5(SIK1):c.2311C>T (p.Leu771=)Developmental and epileptic encephalopathy, 30 [RCV002176889]likely benign214341678343416783Human1name
155702453CV1800533single nucleotide variantNM_173354.5(SIK1):c.1209C>T (p.Ala403=)Developmental and epileptic encephalopathy, 30 [RCV003103228]|Inborn genetic diseases [RCV002359613]likely benign214341938943419389Human2name
155689991CV1826767single nucleotide variantNM_173354.5(SIK1):c.1425C>T (p.Ala475=)Developmental and epileptic encephalopathy, 30 [RCV003750919]|Inborn genetic diseases [RCV002391917]likely benign214341905843419058Human2name
155801835CV1864146single nucleotide variantNM_173354.5(SIK1):c.190G>A (p.Asp64Asn)Developmental and epileptic encephalopathy, 30 [RCV003588845]|not provided [RCV002475099]uncertain significance214342549043425490Human1name
156054327CV1882006single nucleotide variantNM_173354.5(SIK1):c.2115G>A (p.Gly705=)Developmental and epileptic encephalopathy, 30 [RCV003078993]likely benign214341697943416979Human1name
156154839CV1896205single nucleotide variantNM_173354.5(SIK1):c.110A>C (p.Asn37Thr)Developmental and epileptic encephalopathy, 30 [RCV003082676]uncertain significance214342606943426069Human1name
156412671CV1904539single nucleotide variantNM_173354.5(SIK1):c.1908C>T (p.Gly636=)Developmental and epileptic encephalopathy, 30 [RCV002587905]likely benign214341761143417611Human1name
156396689CV1924953single nucleotide variantNM_173354.5(SIK1):c.1371G>A (p.Glu457=)Developmental and epileptic encephalopathy, 30 [RCV002654976]likely benign214341911243419112Human1name
156017173CV2019123single nucleotide variantNM_173354.5(SIK1):c.1461A>G (p.Pro487=)Developmental and epileptic encephalopathy, 30 [RCV002690824]uncertain significance214341902243419022Human1name
156327203CV2050366single nucleotide variantNM_173354.5(SIK1):c.1668G>T (p.Gly556=)Developmental and epileptic encephalopathy, 30 [RCV002810465]likely benign214341833643418336Human1name
156324426CV2053993single nucleotide variantNM_173354.5(SIK1):c.1923A>G (p.Ala641=)Developmental and epileptic encephalopathy, 30 [RCV002810299]likely benign214341759643417596Human1name
155999333CV2057330deletionNM_173354.5(SIK1):c.988del (p.Ser330fs)Developmental and epileptic encephalopathy, 30 [RCV002819572]uncertain significance214341999043419990Human1name
156162092CV2096926single nucleotide variantNM_173354.5(SIK1):c.1149T>C (p.Pro383=)Developmental and epileptic encephalopathy, 30 [RCV002872698]likely benign214341944943419449Human1name
155938901CV2110546single nucleotide variantNM_173354.5(SIK1):c.1572G>A (p.Pro524=)Developmental and epileptic encephalopathy, 30 [RCV002904332]likely benign214341843243418432Human1name
155939845CV2110625single nucleotide variantNM_173354.5(SIK1):c.1788C>T (p.Thr596=)Developmental and epileptic encephalopathy, 30 [RCV002904393]likely benign214341773143417731Human1name
156137293CV2129106single nucleotide variantNM_173354.5(SIK1):c.1962G>A (p.Val654=)Developmental and epileptic encephalopathy, 30 [RCV002954096]likely benign214341755743417557Human1name
156394299CV2141162single nucleotide variantNM_173354.5(SIK1):c.1230G>A (p.Gln410=)Developmental and epileptic encephalopathy, 30 [RCV002944254]likely benign214341936843419368Human1name
155952940CV2143709single nucleotide variantNM_173354.5(SIK1):c.158T>C (p.Val53Ala)Developmental and epileptic encephalopathy, 30 [RCV002994734]uncertain significance214342552243425522Human1name
156094662CV2152030single nucleotide variantNM_173354.5(SIK1):c.136C>G (p.His46Asp)Developmental and epileptic encephalopathy, 30 [RCV003020814]uncertain significance214342604343426043Human1name
156213916CV2171090single nucleotide variantNM_173354.5(SIK1):c.2250C>T (p.Ala750=)Developmental and epileptic encephalopathy, 30 [RCV003042439]likely benign214341684443416844Human1name
156210763CV2175678single nucleotide variantNM_173354.5(SIK1):c.1425C>G (p.Ala475=)Developmental and epileptic encephalopathy, 30 [RCV003024798]likely benign214341905843419058Human1name
401743056CV2715384single nucleotide variantNM_173354.5(SIK1):c.263A>G (p.Lys88Arg)Inborn genetic diseases [RCV003292983]uncertain significance214342541743425417Human1name
401892060CV2777200single nucleotide variantNM_173354.5(SIK1):c.278T>C (p.Met93Thr)Inborn genetic diseases [RCV003369755]uncertain significance214342203343422033Human1name
401920151CV2824805single nucleotide variantNM_173354.5(SIK1):c.1710G>A (p.Glu570=)not provided [RCV003431523]likely benign214341829443418294Humanname
405187600CV2854706single nucleotide variantNM_173354.5(SIK1):c.256A>G (p.Ile86Val)Developmental and epileptic encephalopathy, 30 [RCV003589561]uncertain significance214342542443425424Human1name
405196981CV2868204single nucleotide variantNM_173354.5(SIK1):c.1695T>C (p.Pro565=)Developmental and epileptic encephalopathy, 30 [RCV003590530]likely benign214341830943418309Human1name
405185375CV2900599single nucleotide variantNM_173354.5(SIK1):c.208A>G (p.Lys70Glu)Developmental and epileptic encephalopathy, 30 [RCV003589217]uncertain significance214342547243425472Human1name
405199161CV2923326single nucleotide variantNM_173354.5(SIK1):c.288G>C (p.Lys96Asn)Developmental and epileptic encephalopathy, 30 [RCV003590999]uncertain significance214342202343422023Human1name
405200409CV2927563single nucleotide variantNM_173354.5(SIK1):c.2160G>A (p.Pro720=)Developmental and epileptic encephalopathy, 30 [RCV003591070]likely benign214341693443416934Human1name
405195532CV2931905single nucleotide variantNM_173354.5(SIK1):c.1095G>A (p.Arg365=)Developmental and epileptic encephalopathy, 30 [RCV003590419]likely benign214341988343419883Human1name
405199716CV2933422single nucleotide variantNM_173354.5(SIK1):c.179A>C (p.Lys60Thr)Developmental and epileptic encephalopathy, 30 [RCV003591063]uncertain significance214342550143425501Human1name
405108936CV2961258single nucleotide variantNM_173354.5(SIK1):c.2148C>G (p.Thr716=)Developmental and epileptic encephalopathy, 30 [RCV003751173]likely benign214341694643416946Human1name
405111616CV2970749single nucleotide variantNM_173354.5(SIK1):c.1692C>T (p.Leu564=)Developmental and epileptic encephalopathy, 30 [RCV003751657]likely benign214341831243418312Human1name
405112773CV2973122single nucleotide variantNM_173354.5(SIK1):c.1398C>T (p.Ser466=)Developmental and epileptic encephalopathy, 30 [RCV003751790]likely benign214341908543419085Human1name
405113189CV2987846single nucleotide variantNM_173354.5(SIK1):c.2238A>G (p.Pro746=)Developmental and epileptic encephalopathy, 30 [RCV003751877]likely benign214341685643416856Human1name
405113286CV2988173single nucleotide variantNM_173354.5(SIK1):c.2220C>T (p.Ala740=)Developmental and epileptic encephalopathy, 30 [RCV003751898]likely benign214341687443416874Human1name
405113597CV2990632single nucleotide variantNM_173354.5(SIK1):c.1761G>A (p.Arg587=)Developmental and epileptic encephalopathy, 30 [RCV003751997]likely benign214341775843417758Human1name
405117146CV3022197single nucleotide variantNM_173354.5(SIK1):c.2196G>A (p.Leu732=)Developmental and epileptic encephalopathy, 30 [RCV003752465]likely benign214341689843416898Human1name
405107377CV3057626single nucleotide variantNM_173354.5(SIK1):c.1869C>A (p.Gly623=)Developmental and epileptic encephalopathy, 30 [RCV003750719]likely benign214341765043417650Human1name
405203744CV3116762single nucleotide variantNM_173354.5(SIK1):c.2016C>G (p.Gly672=)Developmental and epileptic encephalopathy, 30 [RCV003822246]likely benign214341707843417078Human1name
405183740CV3124042single nucleotide variantNM_173354.5(SIK1):c.1449A>G (p.Pro483=)Developmental and epileptic encephalopathy, 30 [RCV003820238]likely benign214341903443419034Human1name
405154663CV3135143single nucleotide variantNM_173354.5(SIK1):c.1909C>T (p.Leu637=)Developmental and epileptic encephalopathy, 30 [RCV003840255]likely benign214341761043417610Human1name
402477701CV3170160single nucleotide variantNM_173354.5(SIK1):c.1089G>A (p.Arg363=)Developmental and epileptic encephalopathy, 30 [RCV003875548]likely benign214341988943419889Human1name
402465829CV3177358single nucleotide variantNM_173354.5(SIK1):c.1362A>G (p.Leu454=)Developmental and epileptic encephalopathy, 30 [RCV003872989]likely benign214341912143419121Human1name
402492174CV3182411single nucleotide variantNM_173354.5(SIK1):c.1302G>T (p.Val434=)Developmental and epileptic encephalopathy, 30 [RCV003876897]likely benign214341918143419181Human1name
405281941CV3224616single nucleotide variantNM_173354.5(SIK1):c.184C>T (p.Arg62Ter)Developmental and epileptic encephalopathy, 30 [RCV003988951]uncertain significance214342549643425496Human1name
407427490CV3410470single nucleotide variantNM_173354.5(SIK1):c.2259C>A (p.Ala753=)not specified [RCV004586117]likely benign214341683543416835Humanname
597709065CV3599227single nucleotide variantNM_173354.5(SIK1):c.223G>T (p.Val75Phe)Developmental and epileptic encephalopathy, 30 [RCV005107868]|Inborn genetic diseases [RCV004957780]uncertain significance214342545743425457Human2name
597709075CV3599229single nucleotide variantNM_173354.5(SIK1):c.121G>T (p.Val41Leu)Inborn genetic diseases [RCV004957782]uncertain significance214342605843426058Human1name
597895665CV3744198single nucleotide variantNM_173354.5(SIK1):c.1959G>A (p.Glu653=)Developmental and epileptic encephalopathy, 30 [RCV005071668]likely benign214341756043417560Human1name
597877761CV3744296single nucleotide variantNM_173354.5(SIK1):c.1845C>G (p.Ala615=)Developmental and epileptic encephalopathy, 30 [RCV005069510]likely benign214341767443417674Human1name
597868396CV3764464single nucleotide variantNM_173354.5(SIK1):c.277A>G (p.Met93Val)Developmental and epileptic encephalopathy, 30 [RCV005107264]uncertain significance214342203443422034Human1name
597871020CV3768265single nucleotide variantNM_173354.5(SIK1):c.1527G>A (p.Leu509=)Developmental and epileptic encephalopathy, 30 [RCV005122644]likely benign214341847743418477Human1name
597906566CV3772898single nucleotide variantNM_173354.5(SIK1):c.269A>T (p.Tyr90Phe)Developmental and epileptic encephalopathy, 30 [RCV005112963]uncertain significance214342541143425411Human1name
597893085CV3784902single nucleotide variantNM_173354.5(SIK1):c.1860C>A (p.Ala620=)Developmental and epileptic encephalopathy, 30 [RCV005125681]likely benign214341765943417659Human1name
597937567CV3787907single nucleotide variantNM_173354.5(SIK1):c.1855C>A (p.Arg619=)Developmental and epileptic encephalopathy, 30 [RCV005132786]likely benign214341766443417664Human1name
597956659CV3792397single nucleotide variantNM_173354.5(SIK1):c.1797T>C (p.Phe599=)Developmental and epileptic encephalopathy, 30 [RCV005137284]likely benign214341772243417722Human1name
597849799CV3793136single nucleotide variantNM_173354.5(SIK1):c.1020C>T (p.Leu340=)Developmental and epileptic encephalopathy, 30 [RCV005145272]likely benign214341995843419958Human1name
597898196CV3806920single nucleotide variantNM_173354.5(SIK1):c.1881C>T (p.Pro627=)Developmental and epileptic encephalopathy, 30 [RCV005152307]likely benign214341763843417638Human1name
597922596CV3812265single nucleotide variantNM_173354.5(SIK1):c.1515T>G (p.Ser505=)Developmental and epileptic encephalopathy, 30 [RCV005155902]likely benign214341848943418489Human1name
597956901CV3818087single nucleotide variantNM_173354.5(SIK1):c.1452C>T (p.Leu484=)Developmental and epileptic encephalopathy, 30 [RCV005162538]likely benign214341903143419031Human1name
597941420CV3819272single nucleotide variantNM_173354.5(SIK1):c.2310C>T (p.Asp770=)Developmental and epileptic encephalopathy, 30 [RCV005159082]likely benign214341678443416784Human1name
597876967CV3825710single nucleotide variantNM_173354.5(SIK1):c.2049G>C (p.Pro683=)Developmental and epileptic encephalopathy, 30 [RCV005177584]likely benign214341704543417045Human1name
597974599CV3831736single nucleotide variantNM_173354.5(SIK1):c.1806G>A (p.Leu602=)Developmental and epileptic encephalopathy, 30 [RCV005168675]likely benign214341771343417713Human1name
597946303CV3841622single nucleotide variantNM_173354.5(SIK1):c.2322C>T (p.Cys774=)Developmental and epileptic encephalopathy, 30 [RCV005189055]likely benign214341677243416772Human1name
597861794CV3850835single nucleotide variantNM_173354.5(SIK1):c.1269C>T (p.Ala423=)Developmental and epileptic encephalopathy, 30 [RCV005195968]likely benign214341921443419214Human1name
597913628CV3850996single nucleotide variantNM_173354.5(SIK1):c.2160G>C (p.Pro720=)Developmental and epileptic encephalopathy, 30 [RCV005203964]likely benign214341693443416934Human1name
597886122CV3854897single nucleotide variantNM_173354.5(SIK1):c.1122G>A (p.Val374=)Developmental and epileptic encephalopathy, 30 [RCV005199742]likely benign214341947643419476Human1name
13470134CV442312single nucleotide variantNM_173354.5(SIK1):c.1455C>T (p.Thr485=)Developmental and epileptic encephalopathy, 30 [RCV000556496]|Inborn genetic diseases [RCV002311839]|not provided [RCV004712872]|not specified [RCV000516916]benign214341902843419028Human2name
13499388CV469657single nucleotide variantNM_173354.5(SIK1):c.1926C>T (p.Ala642=)Developmental and epileptic encephalopathy, 30 [RCV000532637]|Inborn genetic diseases [RCV002413636]|not provided [RCV004704097]benign|likely benign214341759343417593Human2name
13500931CV469661single nucleotide variantNM_173354.5(SIK1):c.1554G>T (p.Ala518=)Developmental and epileptic encephalopathy, 30 [RCV000538949]|Inborn genetic diseases [RCV002311885]|not provided [RCV004714078]benign214341845043418450Human2name
13465465CV470697single nucleotide variantNM_173354.5(SIK1):c.2142G>A (p.Leu714=)Developmental and epileptic encephalopathy, 30 [RCV000547209]|Inborn genetic diseases [RCV002315035]benign|likely benign214341695243416952Human2name
13466724CV470714single nucleotide variantNM_173354.5(SIK1):c.1782G>A (p.Thr594=)Developmental and epileptic encephalopathy, 30 [RCV000552354]|Inborn genetic diseases [RCV002404561]|not provided [RCV003431120]benign|likely benign214341773743417737Human2name
13498027CV470715single nucleotide variantNM_173354.5(SIK1):c.1605G>A (p.Pro535=)Developmental and epileptic encephalopathy, 30 [RCV001083721]|Inborn genetic diseases [RCV002311886]|not provided [RCV000713288]|not specified [RCV005000212]benign214341839943418399Human2name
13468106CV470722single nucleotide variantNM_173354.5(SIK1):c.1470C>T (p.Val490=)Developmental and epileptic encephalopathy, 30 [RCV000557287]|Inborn genetic diseases [RCV002311884]|not provided [RCV003431119]benign|likely benign214341853443418534Human2name
13499133CV471233single nucleotide variantNM_173354.5(SIK1):c.1404G>A (p.Thr468=)Developmental and epileptic encephalopathy, 30 [RCV000531623]|Inborn genetic diseases [RCV002316584]likely benign214341907943419079Human2name
13498657CV471235single nucleotide variantNM_173354.5(SIK1):c.1077C>T (p.Ala359=)Developmental and epileptic encephalopathy, 30 [RCV000529739]|Inborn genetic diseases [RCV002315031]|not provided [RCV002060366]benign|likely benign214341990143419901Human2name
13498793CV471674single nucleotide variantNM_173354.5(SIK1):c.2121G>A (p.Pro707=)Developmental and epileptic encephalopathy, 30 [RCV000530212]|Inborn genetic diseases [RCV002316587]likely benign214341697343416973Human2name
13501313CV471676single nucleotide variantNM_173354.5(SIK1):c.2049G>A (p.Pro683=)Developmental and epileptic encephalopathy, 30 [RCV000540526]|Inborn genetic diseases [RCV002315033]|not provided [RCV003437286]benign|likely benign214341704543417045Human2name
13501086CV471679single nucleotide variantNM_173354.5(SIK1):c.1641C>T (p.Ser547=)Developmental and epileptic encephalopathy, 30 [RCV000539603]|not provided [RCV003437285]likely benign214341836343418363Human1name
13466250CV471681single nucleotide variantNM_173354.5(SIK1):c.1482C>T (p.Ser494=)Developmental and epileptic encephalopathy, 30 [RCV000550361]likely benign214341852243418522Human1name
13464800CV471695single nucleotide variantNM_173354.5(SIK1):c.1416C>T (p.His472=)Developmental and epileptic encephalopathy, 30 [RCV000543964]likely benign214341906743419067Human1name
13625290CV533905single nucleotide variantNM_173354.5(SIK1):c.2208C>T (p.Thr736=)Developmental and epileptic encephalopathy, 30 [RCV000653202]likely benign214341688643416886Human1name
13625286CV533906single nucleotide variantNM_173354.5(SIK1):c.2202T>C (p.Ile734=)Developmental and epileptic encephalopathy, 30 [RCV000653197]|Inborn genetic diseases [RCV002424538]likely benign214341689243416892Human2name
13625293CV533907single nucleotide variantNM_173354.5(SIK1):c.1875G>T (p.Leu625=)Developmental and epileptic encephalopathy, 30 [RCV000653205]|not provided [RCV004568464]likely benign214341764443417644Human1name
13625288CV533910single nucleotide variantNM_173354.5(SIK1):c.1992G>A (p.Gln664=)Developmental and epileptic encephalopathy, 30 [RCV000653199]likely benign214341710243417102Human1name
13625292CV533921single nucleotide variantNM_173354.5(SIK1):c.1368G>A (p.Glu456=)Developmental and epileptic encephalopathy, 30 [RCV000653204]likely benign214341911543419115Human1name
13625287CV533925single nucleotide variantNM_173354.5(SIK1):c.1278C>T (p.Ser426=)Developmental and epileptic encephalopathy, 30 [RCV000653198]benign214341920543419205Human1name
13625295CV533951single nucleotide variantNM_173354.5(SIK1):c.2160G>T (p.Pro720=)Developmental and epileptic encephalopathy, 30 [RCV000653207]|Inborn genetic diseases [RCV002317899]benign|likely benign214341693443416934Human2name
13625291CV533953single nucleotide variantNM_173354.5(SIK1):c.1917C>T (p.Gly639=)Developmental and epileptic encephalopathy, 30 [RCV000653203]likely benign214341760243417602Human1name
13625297CV534454single nucleotide variantNM_173354.5(SIK1):c.1530C>G (p.Thr510=)Developmental and epileptic encephalopathy, 30 [RCV000653209]likely benign214341847443418474Human1name
13806178CV573143single nucleotide variantNM_173354.5(SIK1):c.233T>C (p.Met78Thr)Developmental and epileptic encephalopathy, 30 [RCV000686108]uncertain significance214342544743425447Human1name
13801453CV577895single nucleotide variantNM_173354.5(SIK1):c.1848C>T (p.Pro616=)Developmental and epileptic encephalopathy, 30 [RCV001511473]|Inborn genetic diseases [RCV002312251]|not provided [RCV000713290]|not specified [RCV004597869]benign214341767143417671Human2name
13829990CV580464single nucleotide variantNM_173354.5(SIK1):c.2166C>T (p.Ala722=)Developmental and epileptic encephalopathy, 30 [RCV003768145]|Inborn genetic diseases [RCV002318781]likely benign214341692843416928Human2name
13830589CV580467single nucleotide variantNM_173354.5(SIK1):c.2148C>T (p.Thr716=)Developmental and epileptic encephalopathy, 30 [RCV001485763]|Inborn genetic diseases [RCV002318184]|not provided [RCV004704197]likely benign214341694643416946Human2name
13829860CV580474single nucleotide variantNM_173354.5(SIK1):c.2127G>A (p.Leu709=)Developmental and epileptic encephalopathy, 30 [RCV002067044]|Inborn genetic diseases [RCV002318654]likely benign214341696743416967Human2name
13830524CV580477single nucleotide variantNM_173354.5(SIK1):c.2112G>A (p.Ser704=)Developmental and epileptic encephalopathy, 30 [RCV001034082]|Inborn genetic diseases [RCV002317641]|not provided [RCV000997834]benign|likely benign|uncertain significance214341698243416982Human2name
13829790CV580586single nucleotide variantNM_173354.5(SIK1):c.2182C>T (p.Leu728=)Developmental and epileptic encephalopathy, 30 [RCV000959505]|Inborn genetic diseases [RCV002318093]likely benign214341691243416912Human2name
13829037CV580588single nucleotide variantNM_173354.5(SIK1):c.2154G>A (p.Ala718=)Developmental and epileptic encephalopathy, 30 [RCV001434050]|Inborn genetic diseases [RCV002314455]likely benign214341694043416940Human2name
13829541CV580633single nucleotide variantNM_173354.5(SIK1):c.2217C>T (p.Thr739=)Developmental and epileptic encephalopathy, 30 [RCV000929977]|Inborn genetic diseases [RCV002315394]|not provided [RCV003432757]likely benign214341687743416877Human2name
13830413CV580644single nucleotide variantNM_173354.5(SIK1):c.1179G>A (p.Pro393=)Developmental and epileptic encephalopathy, 30 [RCV001089340]|Inborn genetic diseases [RCV002317535]|not provided [RCV000951895]likely benign|conflicting interpretations of pathogenicity|uncertain significance214341941943419419Human2name
13828369CV580645single nucleotide variantNM_173354.5(SIK1):c.1143C>T (p.Thr381=)Developmental and epileptic encephalopathy, 30 [RCV001444870]|Inborn genetic diseases [RCV002312379]likely benign214341945543419455Human2name
14708793CV650487single nucleotide variantNM_173354.5(SIK1):c.1260G>A (p.Pro420=)Developmental and epileptic encephalopathy, 30 [RCV000810364]uncertain significance214341922343419223Human1name
14709337CV650502single nucleotide variantNM_173354.5(SIK1):c.232A>T (p.Met78Leu)Developmental and epileptic encephalopathy, 30 [RCV000811716]uncertain significance214342544843425448Human1name
15174378CV705718single nucleotide variantNM_173354.5(SIK1):c.1725G>A (p.Ser575=)Developmental and epileptic encephalopathy, 30 [RCV000950334]likely benign214341827943418279Human1name
15181362CV705719single nucleotide variantNM_173354.5(SIK1):c.1395C>T (p.Pro465=)Developmental and epileptic encephalopathy, 30 [RCV001402336]|Inborn genetic diseases [RCV002391001]likely benign214341908843419088Human2name
15152459CV705721single nucleotide variantNM_173354.5(SIK1):c.1086G>T (p.Pro362=)Developmental and epileptic encephalopathy, 30 [RCV000945887]|Inborn genetic diseases [RCV002427376]likely benign214341989243419892Human2name
15108126CV717230single nucleotide variantNM_173354.5(SIK1):c.1197C>T (p.Ser399=)Developmental and epileptic encephalopathy, 30 [RCV001435381]|not provided [RCV000960425]likely benign214341940143419401Human1name
15188298CV728928single nucleotide variantNM_173354.5(SIK1):c.2226C>T (p.Pro742=)Developmental and epileptic encephalopathy, 30 [RCV000887493]|Inborn genetic diseases [RCV002427243]|not provided [RCV003432879]likely benign214341686843416868Human2name
15166086CV728929single nucleotide variantNM_173354.5(SIK1):c.2088G>A (p.Pro696=)Developmental and epileptic encephalopathy, 30 [RCV000882554]|not provided [RCV001200273]likely benign214341700643417006Human1name
15170182CV728930single nucleotide variantNM_173354.5(SIK1):c.1623C>T (p.Pro541=)Developmental and epileptic encephalopathy, 30 [RCV000883421]|not provided [RCV003432875]likely benign214341838143418381Human1name
15194470CV728931single nucleotide variantNM_173354.5(SIK1):c.1560C>T (p.Leu520=)Developmental and epileptic encephalopathy, 30 [RCV000889232]benign214341844443418444Human1name
15188739CV728932single nucleotide variantNM_173354.5(SIK1):c.1380G>A (p.Thr460=)Developmental and epileptic encephalopathy, 30 [RCV000887624]|not provided [RCV001815455]likely benign214341910343419103Human1name
15172072CV742662single nucleotide variantNM_173354.5(SIK1):c.2175G>A (p.Ala725=)Developmental and epileptic encephalopathy, 30 [RCV000905596]|Inborn genetic diseases [RCV002427262]likely benign214341691943416919Human2name
15149367CV742663single nucleotide variantNM_173354.5(SIK1):c.2058C>T (p.Ile686=)Developmental and epileptic encephalopathy, 30 [RCV001421590]likely benign214341703643417036Human1name
15190188CV742664single nucleotide variantNM_173354.5(SIK1):c.1458G>A (p.Ala486=)Developmental and epileptic encephalopathy, 30 [RCV000909875]likely benign214341902543419025Human1name
15187537CV742665single nucleotide variantNM_173354.5(SIK1):c.1386G>A (p.Glu462=)Developmental and epileptic encephalopathy, 30 [RCV000909118]|not provided [RCV003432900]likely benign214341909743419097Human1name
15136415CV742666single nucleotide variantNM_173354.5(SIK1):c.1173G>A (p.Pro391=)Developmental and epileptic encephalopathy, 30 [RCV002540171]likely benign214341942543419425Human1name
15192978CV742667single nucleotide variantNM_173354.5(SIK1):c.1068C>T (p.Pro356=)Developmental and epileptic encephalopathy, 30 [RCV001453355]|Inborn genetic diseases [RCV002409166]|not provided [RCV003438580]likely benign214341991043419910Human2name
15132407CV757842single nucleotide variantNM_173354.5(SIK1):c.2226C>G (p.Pro742=)Developmental and epileptic encephalopathy, 30 [RCV000920335]|not provided [RCV003438590]likely benign214341686843416868Human1name
15132374CV757843single nucleotide variantNM_173354.5(SIK1):c.1770G>A (p.Leu590=)Developmental and epileptic encephalopathy, 30 [RCV001406006]likely benign214341774943417749Human1name
15202908CV757844single nucleotide variantNM_173354.5(SIK1):c.1722G>A (p.Ala574=)Developmental and epileptic encephalopathy, 30 [RCV002540862]likely benign214341828243418282Human1name
15122356CV757845single nucleotide variantNM_173354.5(SIK1):c.1449A>T (p.Pro483=)Developmental and epileptic encephalopathy, 30 [RCV001424761]likely benign214341903443419034Human1name
15128218CV757846single nucleotide variantNM_173354.5(SIK1):c.1338G>A (p.Glu446=)Developmental and epileptic encephalopathy, 30 [RCV001401950]likely benign214341914543419145Human1name
15195161CV757847single nucleotide variantNM_173354.5(SIK1):c.1200C>T (p.Val400=)Developmental and epileptic encephalopathy, 30 [RCV000911336]likely benign214341939843419398Human1name
15122208CV757848single nucleotide variantNM_173354.5(SIK1):c.1179G>T (p.Pro393=)Developmental and epileptic encephalopathy, 30 [RCV001455129]likely benign214341941943419419Human1name
15182951CV773365single nucleotide variantNM_173354.5(SIK1):c.1620G>A (p.Ser540=)Developmental and epileptic encephalopathy, 30 [RCV000930480]likely benign214341838443418384Human1name
15137148CV786504single nucleotide variantNM_173354.5(SIK1):c.1830C>T (p.Arg610=)Developmental and epileptic encephalopathy, 30 [RCV000982238]likely benign214341768943417689Human1name
15108970CV786505single nucleotide variantNM_173354.5(SIK1):c.1734A>C (p.Ser578=)Developmental and epileptic encephalopathy, 30 [RCV001464068]likely benign214341827043418270Human1name
15114509CV786506single nucleotide variantNM_173354.5(SIK1):c.1554G>A (p.Ala518=)Developmental and epileptic encephalopathy, 30 [RCV001483873]|not specified [RCV005056708]likely benign214341845043418450Human1name
15101086CV786507single nucleotide variantNM_173354.5(SIK1):c.1422G>A (p.Leu474=)Developmental and epileptic encephalopathy, 30 [RCV001460930]likely benign214341906143419061Human1name
15106340CV786508single nucleotide variantNM_173354.5(SIK1):c.1356G>A (p.Pro452=)Developmental and epileptic encephalopathy, 30 [RCV002548408]|Inborn genetic diseases [RCV002382202]likely benign214341912743419127Human2name
26901010CV848852single nucleotide variantNM_173354.5(SIK1):c.118G>A (p.Val40Met)Developmental and epileptic encephalopathy, 30 [RCV001035511]uncertain significance214342606143426061Human1name
38489594CV929343single nucleotide variantNM_173354.5(SIK1):c.134G>A (p.Arg45Gln)Developmental and epileptic encephalopathy, 30 [RCV001221771]uncertain significance214342604543426045Human1name
38496655CV951243single nucleotide variantNM_173354.5(SIK1):c.2172G>A (p.Ala724=)Developmental and epileptic encephalopathy, 30 [RCV001226535]likely benign|uncertain significance214341692243416922Human1name
126765992CV1014369single nucleotide variantNM_173354.5(SIK1):c.779T>C (p.Val260Ala)Developmental and epileptic encephalopathy, 30 [RCV001320262]uncertain significance214342042743420427Human1name
126749594CV1014370single nucleotide variantNM_173354.5(SIK1):c.769C>T (p.Arg257Cys)Developmental and epileptic encephalopathy, 30 [RCV001326566]|Inborn genetic diseases [RCV005278825]uncertain significance214342043743420437Human2name
126734810CV1014371single nucleotide variantNM_173354.5(SIK1):c.339T>G (p.Asp113Glu)Developmental and epileptic encephalopathy, 30 [RCV001313626]uncertain significance214342179843421798Human1name
126772060CV1034936single nucleotide variantNM_173354.5(SIK1):c.938A>G (p.Gln313Arg)Developmental and epileptic encephalopathy, 30 [RCV001345399]|not provided [RCV002292632]likely benign|uncertain significance214342026843420268Human1name
126767565CV1034937single nucleotide variantNM_173354.5(SIK1):c.800T>C (p.Ile267Thr)Developmental and epileptic encephalopathy, 30 [RCV001342871]uncertain significance214342040643420406Human1name
126766264CV1034938single nucleotide variantNM_173354.5(SIK1):c.368A>T (p.Glu123Val)Developmental and epileptic encephalopathy, 30 [RCV001342355]uncertain significance214342176943421769Human1name
126910304CV1038792single nucleotide variantNM_173354.5(SIK1):c.803C>A (p.Thr268Asn)Developmental and epileptic encephalopathy, 30 [RCV002547589]|not provided [RCV001354508]uncertain significance214342040343420403Human1name
127292660CV1159004single nucleotide variantNM_173354.5(SIK1):c.939G>T (p.Gln313His)Developmental and epileptic encephalopathy, 30 [RCV001510918]benign214342026743420267Human1name
150529192CV1288745single nucleotide variantNM_173354.5(SIK1):c.332T>C (p.Met111Thr)not provided [RCV001727213]uncertain significance214342197943421979Humanname
150551390CV1292683single nucleotide variantNM_173354.5(SIK1):c.536C>G (p.Pro179Arg)Inborn genetic diseases [RCV002343810]|not provided [RCV001754291]uncertain significance214342133143421331Human1name
150549534CV1299508single nucleotide variantNM_173354.5(SIK1):c.698G>A (p.Arg233Lys)Developmental and epileptic encephalopathy, 30 [RCV001868512]|not provided [RCV001752434]uncertain significance214342106043421060Human1name
151350830CV1324847single nucleotide variantNM_173354.5(SIK1):c.443G>C (p.Arg148Pro)Developmental and epileptic encephalopathy, 30 [RCV001809292]uncertain significance214342169443421694Human1name
151741789CV1335533deletionNM_173354.5(SIK1):c.1794del (p.Leu600fs)Epileptic encephalopathy [RCV001845061]likely benign214341772543417725Human2name
151844152CV1339434single nucleotide variantNM_173354.5(SIK1):c.620T>C (p.Ile207Thr)Developmental and epileptic encephalopathy, 30 [RCV001978064]uncertain significance214342124743421247Human1name
151778004CV1342780single nucleotide variantNM_173354.5(SIK1):c.871G>C (p.Ala291Pro)Developmental and epileptic encephalopathy, 30 [RCV001988868]uncertain significance214342033543420335Human1name
151823340CV1352200single nucleotide variantNM_173354.5(SIK1):c.371A>G (p.Asn124Ser)Developmental and epileptic encephalopathy, 30 [RCV002013609]uncertain significance214342176643421766Human1name
151860204CV1374027single nucleotide variantNM_173354.5(SIK1):c.796C>T (p.Arg266Cys)Developmental and epileptic encephalopathy, 30 [RCV001938444]uncertain significance214342041043420410Human1name
151709509CV1375906single nucleotide variantNM_173354.5(SIK1):c.700C>T (p.Gln234Ter)Developmental and epileptic encephalopathy, 30 [RCV001964002]uncertain significance214342105843421058Human1name
151871505CV1384284single nucleotide variantNM_173354.5(SIK1):c.818G>A (p.Arg273Gln)Developmental and epileptic encephalopathy, 30 [RCV001960488]uncertain significance214342038843420388Human1name
151826972CV1396278single nucleotide variantNM_173354.5(SIK1):c.835C>G (p.Arg279Gly)Developmental and epileptic encephalopathy, 30 [RCV001934674]|Inborn genetic diseases [RCV002548071]likely benign|uncertain significance214342037143420371Human2name
151744631CV1401608single nucleotide variantNM_173354.5(SIK1):c.710T>C (p.Leu237Pro)Developmental and epileptic encephalopathy, 30 [RCV001947456]|Inborn genetic diseases [RCV004040410]uncertain significance214342104843421048Human2name
151800285CV1403974single nucleotide variantNM_173354.5(SIK1):c.691A>G (p.Thr231Ala)Developmental and epileptic encephalopathy, 30 [RCV001973844]|Inborn genetic diseases [RCV002573421]likely benign|uncertain significance214342106743421067Human2name
151877958CV1415919single nucleotide variantNM_173354.5(SIK1):c.913G>C (p.Asp305His)Developmental and epileptic encephalopathy, 30 [RCV001926063]uncertain significance214342029343420293Human1name
151729885CV1416684single nucleotide variantNM_173354.5(SIK1):c.372C>A (p.Asn124Lys)Developmental and epileptic encephalopathy, 30 [RCV002004658]uncertain significance214342176543421765Human1name
151842922CV1418360single nucleotide variantNM_173354.5(SIK1):c.817C>T (p.Arg273Trp)Developmental and epileptic encephalopathy, 30 [RCV001903069]uncertain significance214342038943420389Human1name
151816785CV1427295single nucleotide variantNM_173354.5(SIK1):c.593A>G (p.Lys198Arg)Developmental and epileptic encephalopathy, 30 [RCV001878819]uncertain significance214342127443421274Human1name
151795915CV1437716single nucleotide variantNM_173354.5(SIK1):c.860C>T (p.Pro287Leu)Developmental and epileptic encephalopathy, 30 [RCV001876935]uncertain significance214342034643420346Human1name
151882267CV1443163single nucleotide variantNM_173354.5(SIK1):c.386A>C (p.Lys129Thr)Developmental and epileptic encephalopathy, 30 [RCV002037105]|Inborn genetic diseases [RCV002543445]uncertain significance214342175143421751Human2name
151774702CV1450244single nucleotide variantNM_173354.5(SIK1):c.521A>T (p.Tyr174Phe)Developmental and epileptic encephalopathy, 30 [RCV001915318]uncertain significance214342134643421346Human1name
151768658CV1486315single nucleotide variantNM_173354.5(SIK1):c.914A>G (p.Asp305Gly)Developmental and epileptic encephalopathy, 30 [RCV001914768]uncertain significance214342029243420292Human1name
151813139CV1498338single nucleotide variantNM_173354.5(SIK1):c.369G>C (p.Glu123Asp)Developmental and epileptic encephalopathy, 30 [RCV001954025]uncertain significance214342176843421768Human1name
151790465CV1512940single nucleotide variantNM_173354.5(SIK1):c.910T>C (p.Tyr304His)Developmental and epileptic encephalopathy, 30 [RCV001876466]uncertain significance214342029643420296Human1name
151812478CV1516014single nucleotide variantNM_173354.5(SIK1):c.854C>A (p.Pro285Gln)Developmental and epileptic encephalopathy, 30 [RCV002012578]uncertain significance214342035243420352Human1name
152137465CV1563399single nucleotide variantNM_173354.5(SIK1):c.880G>A (p.Ala294Thr)Developmental and epileptic encephalopathy, 30 [RCV002200137]|Inborn genetic diseases [RCV004045570]|not provided [RCV004598179]likely benign214342032643420326Human2name
155670825CV1771040single nucleotide variantNM_173354.5(SIK1):c.901C>G (p.Leu301Val)Developmental and epileptic encephalopathy, 30 [RCV002297346]uncertain significance214342030543420305Human1name
155716773CV1774220single nucleotide variantNM_173354.5(SIK1):c.353A>T (p.Asn118Ile)Developmental and epileptic encephalopathy, 30 [RCV002296485]uncertain significance214342178443421784Human1name
155718030CV1775493single nucleotide variantNM_173354.5(SIK1):c.376G>T (p.Ala126Ser)Developmental and epileptic encephalopathy, 30 [RCV002301161]uncertain significance214342176143421761Human1name
155709732CV1775758single nucleotide variantNM_173354.5(SIK1):c.326G>T (p.Gly109Val)Developmental and epileptic encephalopathy, 30 [RCV002296143]uncertain significance214342198543421985Human1name
155701154CV1776158single nucleotide variantNM_173354.5(SIK1):c.753T>G (p.Cys251Trp)Developmental and epileptic encephalopathy, 30 [RCV002299979]uncertain significance214342045343420453Human1name
155730688CV1814204single nucleotide variantNM_173354.5(SIK1):c.836G>A (p.Arg279Gln)Developmental and epileptic encephalopathy, 30 [RCV003588827]|Inborn genetic diseases [RCV002434771]likely benign|uncertain significance214342037043420370Human2name
155713247CV1830014deletionNM_173354.5(SIK1):c.1479del (p.Ser494fs)Inborn genetic diseases [RCV002397082]uncertain significance214341852543418525Human1name
155795552CV1861368single nucleotide variantNM_173354.5(SIK1):c.934A>C (p.Met312Leu)not provided [RCV002469650]uncertain significance214342027243420272Humanname
10044741CV187940single nucleotide variantNM_173354.5(SIK1):c.859C>A (p.Pro287Thr)Developmental and epileptic encephalopathy, 30 [RCV000170344]pathogenic214342034743420347Human1name
156405219CV1912996single nucleotide variantNM_173354.5(SIK1):c.692C>T (p.Thr231Met)Developmental and epileptic encephalopathy, 30 [RCV002606279]|Inborn genetic diseases [RCV004068946]likely benign|uncertain significance214342106643421066Human2name
156360965CV2016650single nucleotide variantNM_173354.5(SIK1):c.521A>G (p.Tyr174Cys)Developmental and epileptic encephalopathy, 30 [RCV002720857]uncertain significance214342134643421346Human1name
156299243CV2017226single nucleotide variantNM_173354.5(SIK1):c.833T>C (p.Met278Thr)Developmental and epileptic encephalopathy, 30 [RCV002715984]|Inborn genetic diseases [RCV004067708]uncertain significance214342037343420373Human2name
155963334CV2034052single nucleotide variantNM_173354.5(SIK1):c.967G>A (p.Val323Met)Developmental and epileptic encephalopathy, 30 [RCV002731280]uncertain significance214342023943420239Human1name
156335471CV2057744single nucleotide variantNM_173354.5(SIK1):c.908A>T (p.Asp303Val)Developmental and epileptic encephalopathy, 30 [RCV002810915]uncertain significance214342029843420298Human1name
155949474CV2058628deletionNM_173354.5(SIK1):c.1455del (p.Ala486fs)Developmental and epileptic encephalopathy, 30 [RCV002816183]uncertain significance214341902843419028Human1name
156281666CV2161010single nucleotide variantNM_173354.5(SIK1):c.445G>A (p.Asp149Asn)Developmental and epileptic encephalopathy, 30 [RCV003027338]uncertain significance214342169243421692Human1name
156070333CV2295806single nucleotide variantNM_173354.5(SIK1):c.718C>T (p.Arg240Cys)Inborn genetic diseases [RCV002868671]uncertain significance214342104043421040Human1name
156440064CV2401748single nucleotide variantNM_173354.5(SIK1):c.788C>T (p.Pro263Leu)not provided [RCV003110036]uncertain significance214342041843420418Humanname
401868439CV2767235single nucleotide variantNM_173354.5(SIK1):c.673G>A (p.Asp225Asn)Developmental and epileptic encephalopathy, 30 [RCV003777532]|Inborn genetic diseases [RCV003345427]uncertain significance214342108543421085Human2name
401930622CV2824806single nucleotide variantNM_173354.5(SIK1):c.580G>C (p.Val194Leu)not provided [RCV003440596]uncertain significance214342128743421287Humanname
401920273CV2824807single nucleotide variantNM_173354.5(SIK1):c.428A>G (p.His143Arg)not provided [RCV003431524]uncertain significance214342170943421709Humanname
401945587CV2839760single nucleotide variantNM_173354.5(SIK1):c.742T>C (p.Ser248Pro)Developmental and epileptic encephalopathy, 30 [RCV003458290]uncertain significance214342101643421016Human1name
405188244CV2865289single nucleotide variantNM_173354.5(SIK1):c.558C>A (p.Ser186Arg)Developmental and epileptic encephalopathy, 30 [RCV003589634]uncertain significance214342130943421309Human1name
405191930CV2871383single nucleotide variantNM_173354.5(SIK1):c.562C>T (p.Pro188Ser)Developmental and epileptic encephalopathy, 30 [RCV003589976]uncertain significance214342130543421305Human1name
405190627CV2874309single nucleotide variantNM_173354.5(SIK1):c.674A>G (p.Asp225Gly)Developmental and epileptic encephalopathy, 30 [RCV003589905]uncertain significance214342108443421084Human1name
405197754CV2884060single nucleotide variantNM_173354.5(SIK1):c.634G>A (p.Val212Met)Developmental and epileptic encephalopathy, 30 [RCV003590797]uncertain significance214342112443421124Human1name
405183355CV2902114single nucleotide variantNM_173354.5(SIK1):c.871G>T (p.Ala291Ser)Developmental and epileptic encephalopathy, 30 [RCV003589035]uncertain significance214342033543420335Human1name
405192989CV2914972single nucleotide variantNM_173354.5(SIK1):c.758G>A (p.Ser253Asn)Developmental and epileptic encephalopathy, 30 [RCV003590177]uncertain significance214342044843420448Human1name
405187061CV2915966single nucleotide variantNM_173354.5(SIK1):c.845C>A (p.Pro282His)Developmental and epileptic encephalopathy, 30 [RCV003589501]uncertain significance214342036143420361Human1name
405199066CV2926978single nucleotide variantNM_173354.5(SIK1):c.462C>A (p.Asn154Lys)Developmental and epileptic encephalopathy, 30 [RCV003590987]uncertain significance214342167543421675Human1name
405112355CV2964944single nucleotide variantNM_173354.5(SIK1):c.866G>C (p.Cys289Ser)Developmental and epileptic encephalopathy, 30 [RCV003751711]uncertain significance214342034043420340Human1name
405112814CV2966236single nucleotide variantNM_173354.5(SIK1):c.647T>C (p.Val216Ala)Developmental and epileptic encephalopathy, 30 [RCV003751798]uncertain significance214342111143421111Human1name
405112286CV2969297single nucleotide variantNM_173354.5(SIK1):c.524A>C (p.Lys175Thr)Developmental and epileptic encephalopathy, 30 [RCV003751769]uncertain significance214342134343421343Human1name
405115382CV3015919single nucleotide variantNM_173354.5(SIK1):c.692C>A (p.Thr231Lys)Developmental and epileptic encephalopathy, 30 [RCV003752289]uncertain significance214342106643421066Human1name
405106444CV3050977single nucleotide variantNM_173354.5(SIK1):c.767G>A (p.Arg256His)Developmental and epileptic encephalopathy, 30 [RCV003750515]uncertain significance214342043943420439Human1name
405139816CV3125765single nucleotide variantNM_173354.5(SIK1):c.857G>C (p.Gly286Ala)Developmental and epileptic encephalopathy, 30 [RCV003816680]uncertain significance214342034943420349Human1name
405193917CV3167523single nucleotide variantNM_173354.5(SIK1):c.392G>C (p.Trp131Ser)Developmental and epileptic encephalopathy, 30 [RCV003859929]uncertain significance214342174543421745Human1name
405269791CV3187489single nucleotide variantNM_173354.5(SIK1):c.572C>T (p.Ala191Val)not provided [RCV003887573]uncertain significance214342129543421295Humanname
405705354CV3224788deletionNM_173354.5(SIK1):c.1373del (p.Gln458fs)Developmental and epileptic encephalopathy, 30 [RCV003990168]likely pathogenic214341911043419110Human1name
407425277CV3411089single nucleotide variantNM_173354.5(SIK1):c.512G>A (p.Gly171Glu)not provided [RCV004588779]uncertain significance214342135543421355Humanname
407501789CV3480736single nucleotide variantNM_173354.5(SIK1):c.811C>G (p.Gln271Glu)Inborn genetic diseases [RCV004669835]uncertain significance214342039543420395Human1name
597639335CV3599226single nucleotide variantNM_173354.5(SIK1):c.482T>C (p.Met161Thr)Inborn genetic diseases [RCV004971181]uncertain significance214342165543421655Human1name
597709071CV3599228single nucleotide variantNM_173354.5(SIK1):c.646G>T (p.Val216Phe)Inborn genetic diseases [RCV004957781]uncertain significance214342111243421112Human1name
597932563CV3742647single nucleotide variantNM_173354.5(SIK1):c.658G>A (p.Gly220Ser)Developmental and epileptic encephalopathy, 30 [RCV005076086]uncertain significance214342110043421100Human1name
597970395CV3750238single nucleotide variantNM_173354.5(SIK1):c.534G>T (p.Glu178Asp)Developmental and epileptic encephalopathy, 30 [RCV005084179]uncertain significance214342133343421333Human1name
597868388CV3764463single nucleotide variantNM_173354.5(SIK1):c.739A>G (p.Met247Val)Developmental and epileptic encephalopathy, 30 [RCV005107263]uncertain significance214342101943421019Human1name
597964492CV3792474single nucleotide variantNM_173354.5(SIK1):c.766C>T (p.Arg256Cys)Developmental and epileptic encephalopathy, 30 [RCV005139841]uncertain significance214342044043420440Human1name
597893462CV3809922single nucleotide variantNM_173354.5(SIK1):c.890A>G (p.Tyr297Cys)Developmental and epileptic encephalopathy, 30 [RCV005151643]uncertain significance214342031643420316Human1name
597943097CV3816387single nucleotide variantNM_173354.5(SIK1):c.689C>T (p.Pro230Leu)Developmental and epileptic encephalopathy, 30 [RCV005159448]uncertain significance214342106943421069Human1name
597914367CV3851098single nucleotide variantNM_173354.5(SIK1):c.793A>G (p.Arg265Gly)Developmental and epileptic encephalopathy, 30 [RCV005204066]uncertain significance214342041343420413Human1name
598177636CV4008324single nucleotide variantNM_173354.5(SIK1):c.886A>G (p.Ser296Gly)Developmental and epileptic encephalopathy, 30 [RCV005393842]uncertain significance214342032043420320Human1name
617152790CV4018405single nucleotide variantNM_173354.5(SIK1):c.853C>A (p.Pro285Thr)not specified [RCV005418665]uncertain significance214342035343420353Humanname
13500789CV470741single nucleotide variantNM_173354.5(SIK1):c.907G>A (p.Asp303Asn)Developmental and epileptic encephalopathy, 30 [RCV000538396]|Inborn genetic diseases [RCV002448792]benign|uncertain significance214342029943420299Human2name
13464416CV471238single nucleotide variantNM_173354.5(SIK1):c.790G>A (p.Ala264Thr)Developmental and epileptic encephalopathy, 30 [RCV000542041]|Inborn genetic diseases [RCV002311890]|not provided [RCV003311849]benign|likely benign214342041643420416Human2name
13625224CV533926single nucleotide variantNM_173354.5(SIK1):c.862G>T (p.Ala288Ser)Developmental and epileptic encephalopathy, 30 [RCV000653182]|Inborn genetic diseases [RCV004957967]likely benign|uncertain significance214342034443420344Human2name
13625233CV533932single nucleotide variantNM_173354.5(SIK1):c.365G>A (p.Ser122Asn)Developmental and epileptic encephalopathy, 30 [RCV000653191]|not specified [RCV005418273]uncertain significance214342177243421772Human1name
13625223CV533937single nucleotide variantNM_173354.5(SIK1):c.881C>T (p.Ala294Val)Developmental and epileptic encephalopathy, 30 [RCV000653181]|Inborn genetic diseases [RCV002311989]|not provided [RCV001287961]benign|likely benign|uncertain significance214342032543420325Human2name
13625225CV533938single nucleotide variantNM_173354.5(SIK1):c.709C>G (p.Leu237Val)Developmental and epileptic encephalopathy, 30 [RCV000653183]uncertain significance214342104943421049Human1name
13828936CV580601single nucleotide variantNM_173354.5(SIK1):c.875T>A (p.Phe292Tyr)Developmental and epileptic encephalopathy, 30 [RCV001476836]|Inborn genetic diseases [RCV002316173]|not provided [RCV003437408]benign|likely benign214342033143420331Human2name
14709250CV650503single nucleotide variantNM_173354.5(SIK1):c.380G>A (p.Arg127Gln)Developmental and epileptic encephalopathy, 30 [RCV000811438]uncertain significance214342175743421757Human1name
14703782CV650504single nucleotide variantNM_173354.5(SIK1):c.404C>T (p.Ser135Leu)Developmental and epileptic encephalopathy, 30 [RCV000795133]|Inborn genetic diseases [RCV002325510]uncertain significance214342173343421733Human2name
14705177CV650505single nucleotide variantNM_173354.5(SIK1):c.409G>A (p.Val137Met)Developmental and epileptic encephalopathy, 30 [RCV000800063]uncertain significance214342172843421728Human1name
14707565CV650506single nucleotide variantNM_173354.5(SIK1):c.436G>A (p.Val146Ile)Developmental and epileptic encephalopathy, 30 [RCV000807486]uncertain significance214342170143421701Human1name
14705720CV650507single nucleotide variantNM_173354.5(SIK1):c.599A>G (p.Tyr200Cys)Developmental and epileptic encephalopathy, 30 [RCV000801772]uncertain significance214342126843421268Human1name
14703697CV650508single nucleotide variantNM_173354.5(SIK1):c.748G>A (p.Asp250Asn)Developmental and epileptic encephalopathy, 30 [RCV000794848]uncertain significance214342101043421010Human1name
14703322CV650509single nucleotide variantNM_173354.5(SIK1):c.808G>A (p.Ala270Thr)Developmental and epileptic encephalopathy, 30 [RCV000793213]likely benign|uncertain significance214342039843420398Human1name
15155474CV717231single nucleotide variantNM_173354.5(SIK1):c.871G>A (p.Ala291Thr)Developmental and epileptic encephalopathy, 30 [RCV000968931]|Inborn genetic diseases [RCV002372671]benign|likely benign214342033543420335Human2name
26897954CV822200single nucleotide variantNM_173354.5(SIK1):c.854C>T (p.Pro285Leu)Developmental and epileptic encephalopathy, 30 [RCV001034369]|not provided [RCV003432993]benign|likely benign214342035243420352Human1name
26897637CV822201single nucleotide variantNM_173354.5(SIK1):c.750C>G (p.Asp250Glu)Developmental and epileptic encephalopathy, 30 [RCV001034247]likely benign214342045643420456Human1name
26897182CV822202single nucleotide variantNM_173354.5(SIK1):c.424G>C (p.Asp142His)Developmental and epileptic encephalopathy, 30 [RCV001034027]likely benign214342171343421713Human1name
26897084CV822203single nucleotide variantNM_173354.5(SIK1):c.379C>T (p.Arg127Trp)Developmental and epileptic encephalopathy, 30 [RCV001033982]likely benign214342175843421758Human1name
26898034CV822204single nucleotide variantNM_173354.5(SIK1):c.377C>T (p.Ala126Val)Developmental and epileptic encephalopathy, 30 [RCV001034390]likely benign214342176043421760Human1name
26921305CV848842single nucleotide variantNM_173354.5(SIK1):c.955C>T (p.Arg319Trp)Developmental and epileptic encephalopathy, 30 [RCV001060866]uncertain significance214342025143420251Human1name
26906611CV848843single nucleotide variantNM_173354.5(SIK1):c.923C>T (p.Ala308Val)Developmental and epileptic encephalopathy, 30 [RCV001051821]uncertain significance214342028343420283Human1name
26921924CV848844single nucleotide variantNM_173354.5(SIK1):c.913G>A (p.Asp305Asn)Developmental and epileptic encephalopathy, 30 [RCV001061431]uncertain significance214342029343420293Human1name
26912874CV848845single nucleotide variantNM_173354.5(SIK1):c.805A>G (p.Ile269Val)Developmental and epileptic encephalopathy, 30 [RCV001039683]uncertain significance214342040143420401Human1name
26897468CV848846single nucleotide variantNM_173354.5(SIK1):c.770G>A (p.Arg257His)Developmental and epileptic encephalopathy, 30 [RCV001070315]uncertain significance214342043643420436Human1name
26920571CV848847single nucleotide variantNM_173354.5(SIK1):c.580G>A (p.Val194Ile)Developmental and epileptic encephalopathy, 30 [RCV001060113]uncertain significance214342128743421287Human1name
26919916CV848848single nucleotide variantNM_173354.5(SIK1):c.563C>G (p.Pro188Arg)Developmental and epileptic encephalopathy, 30 [RCV001059468]|Inborn genetic diseases [RCV002554420]uncertain significance214342130443421304Human2name
26885548CV848849single nucleotide variantNM_173354.5(SIK1):c.549G>T (p.Trp183Cys)Developmental and epileptic encephalopathy, 30 [RCV001065515]uncertain significance214342131843421318Human1name
26903031CV848850single nucleotide variantNM_173354.5(SIK1):c.424G>A (p.Asp142Asn)Developmental and epileptic encephalopathy, 30 [RCV001072040]uncertain significance214342171343421713Human1name
26904100CV848851single nucleotide variantNM_173354.5(SIK1):c.301A>G (p.Ile101Val)Developmental and epileptic encephalopathy, 30 [RCV001050656]|Inborn genetic diseases [RCV002436600]uncertain significance214342201043422010Human2name
38490517CV929342single nucleotide variantNM_173354.5(SIK1):c.862G>A (p.Ala288Thr)Developmental and epileptic encephalopathy, 30 [RCV001222196]uncertain significance214342034443420344Human1name
38479280CV939133single nucleotide variantNM_173354.5(SIK1):c.826C>T (p.Arg276Trp)Developmental and epileptic encephalopathy, 30 [RCV001205910]uncertain significance214342038043420380Human1name
38468330CV939134single nucleotide variantNM_173354.5(SIK1):c.673G>C (p.Asp225His)Developmental and epileptic encephalopathy, 30 [RCV001202187]uncertain significance214342108543421085Human1name
38456742CV939135single nucleotide variantNM_173354.5(SIK1):c.331A>G (p.Met111Val)Developmental and epileptic encephalopathy, 30 [RCV001210917]|Inborn genetic diseases [RCV002562368]uncertain significance214342198043421980Human2name
38490484CV951251single nucleotide variantNM_173354.5(SIK1):c.953A>C (p.Asp318Ala)Developmental and epileptic encephalopathy, 30 [RCV001238855]uncertain significance214342025343420253Human1name
38478289CV951252single nucleotide variantNM_173354.5(SIK1):c.849C>G (p.Cys283Trp)Developmental and epileptic encephalopathy, 30 [RCV001233855]uncertain significance214342035743420357Human1name
38479948CV951253single nucleotide variantNM_173354.5(SIK1):c.688C>A (p.Pro230Thr)Developmental and epileptic encephalopathy, 30 [RCV001234531]|not specified [RCV003994241]uncertain significance214342107043421070Human1name
126756406CV999230single nucleotide variantNM_173354.5(SIK1):c.956G>A (p.Arg319Gln)Developmental and epileptic encephalopathy, 30 [RCV001308103]uncertain significance214342025043420250Human1name
126755358CV999231single nucleotide variantNM_173354.5(SIK1):c.949G>A (p.Val317Met)Developmental and epileptic encephalopathy, 30 [RCV001298332]uncertain significance214342025743420257Human1name
126741730CV999232single nucleotide variantNM_173354.5(SIK1):c.817C>G (p.Arg273Gly)Developmental and epileptic encephalopathy, 30 [RCV001295943]uncertain significance214342038943420389Human1name
126764171CV999233single nucleotide variantNM_173354.5(SIK1):c.646G>A (p.Val216Ile)Developmental and epileptic encephalopathy, 30 [RCV001300989]uncertain significance214342111243421112Human1name
126755088CV1014360single nucleotide variantNM_173354.5(SIK1):c.1904C>G (p.Pro635Arg)Developmental and epileptic encephalopathy, 30 [RCV001316860]|Inborn genetic diseases [RCV002412018]likely benign|uncertain significance214341761543417615Human2name
126746768CV1014361single nucleotide variantNM_173354.5(SIK1):c.1691T>C (p.Leu564Pro)Developmental and epileptic encephalopathy, 30 [RCV001326055]|Inborn genetic diseases [RCV004960777]likely benign|uncertain significance214341831343418313Human2name
126753615CV1014362single nucleotide variantNM_173354.5(SIK1):c.1667G>A (p.Gly556Glu)Developmental and epileptic encephalopathy, 30 [RCV001327319]uncertain significance214341833743418337Human1name
126760318CV1014366single nucleotide variantNM_173354.5(SIK1):c.1135C>A (p.Leu379Ile)Developmental and epileptic encephalopathy, 30 [RCV001318304]uncertain significance214341946343419463Human1name
126747165CV1014367single nucleotide variantNM_173354.5(SIK1):c.1133G>T (p.Gly378Val)Developmental and epileptic encephalopathy, 30 [RCV001315309]uncertain significance214341946543419465Human1name
126746876CV1014368single nucleotide variantNM_173354.5(SIK1):c.1087C>T (p.Arg363Trp)Developmental and epileptic encephalopathy, 30 [RCV001326076]uncertain significance214341989143419891Human1name
126726215CV1018754single nucleotide variantNM_173354.5(SIK1):c.1904C>T (p.Pro635Leu)Developmental and epileptic encephalopathy, 30 [RCV001331845]|Inborn genetic diseases [RCV002546511]uncertain significance214341761543417615Human2name
126748543CV1034931single nucleotide variantNM_173354.5(SIK1):c.1939G>A (p.Gly647Ser)Developmental and epileptic encephalopathy, 30 [RCV001337673]uncertain significance214341758043417580Human1name
126757762CV1034932single nucleotide variantNM_173354.5(SIK1):c.1783C>T (p.Arg595Trp)Developmental and epileptic encephalopathy, 30 [RCV001339659]|not provided [RCV001532454]uncertain significance214341773643417736Human1name
126725853CV1034933single nucleotide variantNM_173354.5(SIK1):c.1634C>T (p.Ser545Leu)Developmental and epileptic encephalopathy, 30 [RCV001348281]|Inborn genetic diseases [RCV004036550]likely benign|uncertain significance214341837043418370Human2name
126766599CV1034935single nucleotide variantNM_173354.5(SIK1):c.1295G>A (p.Arg432Gln)Developmental and epileptic encephalopathy, 30 [RCV001342490]|not provided [RCV005243518]uncertain significance214341918843419188Human1name
126919939CV1051906single nucleotide variantNM_173354.5(SIK1):c.2201T>C (p.Ile734Thr)Developmental and epileptic encephalopathy, 30 [RCV001373516]|Inborn genetic diseases [RCV002432052]likely benign|uncertain significance214341689343416893Human2name
126923632CV1051908single nucleotide variantNM_173354.5(SIK1):c.2149G>A (p.Gly717Ser)Developmental and epileptic encephalopathy, 30 [RCV001366070]uncertain significance214341694543416945Human1name
126921169CV1051910single nucleotide variantNM_173354.5(SIK1):c.2052T>G (p.Phe684Leu)Developmental and epileptic encephalopathy, 30 [RCV001363322]|not specified [RCV004587142]uncertain significance214341704243417042Human1name
126922012CV1051911single nucleotide variantNM_173354.5(SIK1):c.1991A>G (p.Gln664Arg)Developmental and epileptic encephalopathy, 30 [RCV001364164]uncertain significance214341710343417103Human1name
126914339CV1051914single nucleotide variantNM_173354.5(SIK1):c.1777A>T (p.Thr593Ser)Developmental and epileptic encephalopathy, 30 [RCV001359502]|Inborn genetic diseases [RCV002547721]uncertain significance214341774243417742Human2name
126921722CV1051916single nucleotide variantNM_173354.5(SIK1):c.1450C>A (p.Leu484Ile)Developmental and epileptic encephalopathy, 30 [RCV001363830]uncertain significance214341903343419033Human1name
126923032CV1051917single nucleotide variantNM_173354.5(SIK1):c.1447C>T (p.Pro483Ser)Developmental and epileptic encephalopathy, 30 [RCV001365379]|Inborn genetic diseases [RCV004681144]uncertain significance214341903643419036Human2name
127246344CV1085739indelNM_173354.5(SIK1):c.499+10_499+11delinsCCDevelopmental and epileptic encephalopathy, 30 [RCV001398949]|not specified [RCV003987863]likely benign214342162743421628Humanname
127268409CV1107448single nucleotide variantNM_173354.5(SIK1):c.1601C>T (p.Ser534Phe)Developmental and epileptic encephalopathy, 30 [RCV001440774]likely benign214341840343418403Human1name
150550337CV1300194single nucleotide variantNM_173354.5(SIK1):c.2042C>T (p.Pro681Leu)not provided [RCV001765664]uncertain significance214341705243417052Humanname
150552446CV1301422single nucleotide variantNM_173354.5(SIK1):c.2065T>A (p.Cys689Ser)Developmental and epileptic encephalopathy, 30 [RCV003446903]|not provided [RCV001767832]uncertain significance214341702943417029Human1name
151351788CV1323633single nucleotide variantNM_173354.5(SIK1):c.1153C>T (p.Arg385Ter)Global developmental delay [RCV001807537]likely pathogenic214341944543419445Human2name
151868564CV1338608single nucleotide variantNM_173354.5(SIK1):c.1643C>A (p.Ala548Asp)Developmental and epileptic encephalopathy, 30 [RCV001884845]uncertain significance214341836143418361Human1name
151761677CV1340785single nucleotide variantNM_173354.5(SIK1):c.2320T>C (p.Cys774Arg)Developmental and epileptic encephalopathy, 30 [RCV001987344]uncertain significance214341677443416774Human1name
151797849CV1352661single nucleotide variantNM_173354.5(SIK1):c.1078A>T (p.Arg360Trp)Developmental and epileptic encephalopathy, 30 [RCV001877106]uncertain significance214341990043419900Human1name
151747484CV1352951single nucleotide variantNM_173354.5(SIK1):c.2038G>A (p.Ala680Thr)Developmental and epileptic encephalopathy, 30 [RCV001912599]uncertain significance214341705643417056Human1name
151891151CV1356308single nucleotide variantNM_173354.5(SIK1):c.1690C>T (p.Leu564Phe)Developmental and epileptic encephalopathy, 30 [RCV001943264]uncertain significance214341831443418314Human1name
151843166CV1357860single nucleotide variantNM_173354.5(SIK1):c.1076C>G (p.Ala359Gly)Developmental and epileptic encephalopathy, 30 [RCV001881606]uncertain significance214341990243419902Human1name
151805212CV1359259single nucleotide variantNM_173354.5(SIK1):c.1682C>T (p.Ala561Val)Developmental and epileptic encephalopathy, 30 [RCV002028463]uncertain significance214341832243418322Human1name
151854846CV1372742single nucleotide variantNM_173354.5(SIK1):c.1201C>T (p.Leu401Phe)Developmental and epileptic encephalopathy, 30 [RCV001996411]uncertain significance214341939743419397Human1name
151883267CV1384142single nucleotide variantNM_173354.5(SIK1):c.1304C>T (p.Ser435Phe)Developmental and epileptic encephalopathy, 30 [RCV001886902]uncertain significance214341917943419179Human1name
151751702CV1385470single nucleotide variantNM_173354.5(SIK1):c.1829G>T (p.Arg610Leu)Developmental and epileptic encephalopathy, 30 [RCV001969250]uncertain significance214341769043417690Human1name
151851208CV1386099single nucleotide variantNM_173354.5(SIK1):c.1342G>A (p.Ala448Thr)Developmental and epileptic encephalopathy, 30 [RCV001937373]uncertain significance214341914143419141Human1name
151846273CV1386423single nucleotide variantNM_173354.5(SIK1):c.2321G>C (p.Cys774Ser)Developmental and epileptic encephalopathy, 30 [RCV001881983]uncertain significance214341677343416773Human1name
151794353CV1390444single nucleotide variantNM_173354.5(SIK1):c.1481C>T (p.Ser494Phe)Developmental and epileptic encephalopathy, 30 [RCV001952343]uncertain significance214341852343418523Human1name
151752858CV1398160single nucleotide variantNM_173354.5(SIK1):c.1754C>T (p.Ala585Val)Developmental and epileptic encephalopathy, 30 [RCV001969372]uncertain significance214341776543417765Human1name
151714116CV1399384single nucleotide variantNM_173354.5(SIK1):c.1235C>T (p.Ser412Leu)Developmental and epileptic encephalopathy, 30 [RCV001908619]|Inborn genetic diseases [RCV002361186]|not provided [RCV003438887]likely benign|uncertain significance214341936343419363Human2name
151765102CV1403241single nucleotide variantNM_173354.5(SIK1):c.1168T>C (p.Cys390Arg)Developmental and epileptic encephalopathy, 30 [RCV001914422]uncertain significance214341943043419430Human1name
151721805CV1421847single nucleotide variantNM_173354.5(SIK1):c.1642G>A (p.Ala548Thr)Developmental and epileptic encephalopathy, 30 [RCV001909850]|Inborn genetic diseases [RCV005278957]likely benign|uncertain significance214341836243418362Human2name
151804448CV1432330single nucleotide variantNM_173354.5(SIK1):c.2062C>G (p.Pro688Ala)Developmental and epileptic encephalopathy, 30 [RCV001991249]uncertain significance214341703243417032Human1name
151774144CV1440043single nucleotide variantNM_173354.5(SIK1):c.1784G>A (p.Arg595Gln)Developmental and epileptic encephalopathy, 30 [RCV001874736]|Inborn genetic diseases [RCV005271439]likely benign|uncertain significance214341773543417735Human2name
151795670CV1449056single nucleotide variantNM_173354.5(SIK1):c.2060C>T (p.Ala687Val)Developmental and epileptic encephalopathy, 30 [RCV001990483]uncertain significance214341703443417034Human1name
151884049CV1452551single nucleotide variantNM_173354.5(SIK1):c.1670G>A (p.Gly557Asp)Developmental and epileptic encephalopathy, 30 [RCV002037473]|Inborn genetic diseases [RCV003164007]uncertain significance214341833443418334Human2name
151731213CV1457941single nucleotide variantNM_173354.5(SIK1):c.1159G>A (p.Ala387Thr)Developmental and epileptic encephalopathy, 30 [RCV001967130]uncertain significance214341943943419439Human1name
151730651CV1463942single nucleotide variantNM_173354.5(SIK1):c.1471G>A (p.Val491Ile)Developmental and epileptic encephalopathy, 30 [RCV001946011]uncertain significance214341853343418533Human1name
151795420CV1470924single nucleotide variantNM_173354.5(SIK1):c.1921G>A (p.Ala641Thr)Developmental and epileptic encephalopathy, 30 [RCV001952434]uncertain significance214341759843417598Human1name
151827750CV1472118single nucleotide variantNM_173354.5(SIK1):c.2047C>T (p.Pro683Ser)Developmental and epileptic encephalopathy, 30 [RCV002030499]uncertain significance214341704743417047Human1name
151877893CV1475815single nucleotide variantNM_173354.5(SIK1):c.1304C>G (p.Ser435Cys)Developmental and epileptic encephalopathy, 30 [RCV002019765]uncertain significance214341917943419179Human1name
151824806CV1478325single nucleotide variantNM_173354.5(SIK1):c.1115T>G (p.Leu372Trp)Developmental and epileptic encephalopathy, 30 [RCV002030242]uncertain significance214341986343419863Human1name
151848606CV1480356single nucleotide variantNM_173354.5(SIK1):c.2137C>G (p.Leu713Val)Developmental and epileptic encephalopathy, 30 [RCV001903788]uncertain significance214341695743416957Human1name
151745230CV1485035single nucleotide variantNM_173354.5(SIK1):c.1595C>T (p.Ala532Val)Developmental and epileptic encephalopathy, 30 [RCV002006235]uncertain significance214341840943418409Human1name
151870997CV1488677single nucleotide variantNM_173354.5(SIK1):c.1981C>T (p.Leu661Phe)Developmental and epileptic encephalopathy, 30 [RCV002035664]uncertain significance214341711343417113Human1name
151809242CV1498812single nucleotide variantNM_173354.5(SIK1):c.1456G>A (p.Ala486Thr)Developmental and epileptic encephalopathy, 30 [RCV002048698]uncertain significance214341902743419027Human1name
151764410CV1499545single nucleotide variantNM_173354.5(SIK1):c.2243G>T (p.Arg748Leu)Developmental and epileptic encephalopathy, 30 [RCV001863467]|not provided [RCV003232438]uncertain significance214341685143416851Human1name
151719754CV1500228single nucleotide variantNM_173354.5(SIK1):c.2084C>T (p.Ala695Val)Developmental and epileptic encephalopathy, 30 [RCV001909539]uncertain significance214341701043417010Human1name
151745541CV1501830single nucleotide variantNM_173354.5(SIK1):c.2258C>T (p.Ala753Val)Developmental and epileptic encephalopathy, 30 [RCV002042685]uncertain significance214341683643416836Human1name
151847868CV1502426single nucleotide variantNM_173354.5(SIK1):c.2161G>A (p.Val721Met)Developmental and epileptic encephalopathy, 30 [RCV001882201]uncertain significance214341693343416933Human1name
151840479CV1508246single nucleotide variantNM_173354.5(SIK1):c.2014G>C (p.Gly672Arg)Developmental and epileptic encephalopathy, 30 [RCV001956687]uncertain significance214341708043417080Human1name
151873961CV1511379single nucleotide variantNM_173354.5(SIK1):c.1279G>A (p.Gly427Arg)Developmental and epileptic encephalopathy, 30 [RCV001960806]uncertain significance214341920443419204Human1name
151727930CV1511859single nucleotide variantNM_173354.5(SIK1):c.1160C>T (p.Ala387Val)Developmental and epileptic encephalopathy, 30 [RCV001983903]uncertain significance214341943843419438Human1name
152098857CV1530991single nucleotide variantNM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)Developmental and epileptic encephalopathy, 30 [RCV002132996]likely benign|conflicting interpretations of pathogenicity214341992343419923Human1name
155265308CV1695501single nucleotide variantNM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)Developmental and epileptic encephalopathy, 30 [RCV002280233]likely pathogenic214341768043417680Human1name
155717352CV1772041single nucleotide variantNM_173354.5(SIK1):c.2200A>C (p.Ile734Leu)Developmental and epileptic encephalopathy, 30 [RCV002296528]uncertain significance214341689443416894Human1name
155699956CV1773049single nucleotide variantNM_173354.5(SIK1):c.1345A>G (p.Arg449Gly)Developmental and epileptic encephalopathy, 30 [RCV002295567]uncertain significance214341913843419138Human1name
155747531CV1774680single nucleotide variantNM_173354.5(SIK1):c.1902C>G (p.Ser634Arg)Developmental and epileptic encephalopathy, 30 [RCV002303676]|Inborn genetic diseases [RCV003097956]uncertain significance214341761743417617Human2name
155741006CV1777144single nucleotide variantNM_173354.5(SIK1):c.1759C>T (p.Arg587Trp)Developmental and epileptic encephalopathy, 30 [RCV002302403]uncertain significance214341776043417760Human1name
155749892CV1779319single nucleotide variantNM_173354.5(SIK1):c.1892C>T (p.Pro631Leu)Developmental and epileptic encephalopathy, 30 [RCV002305130]uncertain significance214341762743417627Human1name
155739541CV1779588single nucleotide variantNM_173354.5(SIK1):c.1172C>G (p.Pro391Arg)Developmental and epileptic encephalopathy, 30 [RCV002302225]uncertain significance214341942643419426Human1name
155738465CV1832054single nucleotide variantNM_173354.5(SIK1):c.1820G>A (p.Gly607Glu)Inborn genetic diseases [RCV002410352]uncertain significance214341769943417699Human1name
155744032CV1838740single nucleotide variantNM_173354.5(SIK1):c.1855C>T (p.Arg619Trp)Developmental and epileptic encephalopathy, 30 [RCV003100891]|Inborn genetic diseases [RCV002413080]uncertain significance214341766443417664Human2name
155804239CV1866673single nucleotide variantNM_173354.5(SIK1):c.2126T>C (p.Leu709Pro)Developmental and epileptic encephalopathy, 30 [RCV002571551]|not provided [RCV002481220]uncertain significance214341696843416968Human1name
156148596CV1878815single nucleotide variantNM_173354.5(SIK1):c.1375G>A (p.Asp459Asn)Developmental and epileptic encephalopathy, 30 [RCV003056451]uncertain significance214341910843419108Human1name
10044742CV187941single nucleotide variantNM_173354.5(SIK1):c.1039G>T (p.Glu347Ter)Developmental and epileptic encephalopathy, 30 [RCV000170345]pathogenic214341993943419939Human1name
10044743CV187942single nucleotide variantNM_173354.5(SIK1):c.1840C>T (p.Gln614Ter)Developmental and epileptic encephalopathy, 30 [RCV000170346]pathogenic214341767943417679Human1name
10044744CV187943single nucleotide variantNM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)Developmental and epileptic encephalopathy, 30 [RCV000170347]pathogenic|conflicting interpretations of pathogenicity214341762243417622Human1name
10044745CV187944single nucleotide variantNM_173354.5(SIK1):c.1906G>A (p.Gly636Ser)Developmental and epileptic encephalopathy, 30 [RCV000170348]pathogenic214341761343417613Human1name
156200526CV1882962single nucleotide variantNM_173354.5(SIK1):c.1189G>A (p.Val397Met)Developmental and epileptic encephalopathy, 30 [RCV003084198]uncertain significance214341940943419409Human1name
156352149CV1883303single nucleotide variantNM_173354.5(SIK1):c.2036C>T (p.Pro679Leu)Developmental and epileptic encephalopathy, 30 [RCV003091063]uncertain significance214341705843417058Human1name
156134401CV1905602single nucleotide variantNM_173354.5(SIK1):c.1892C>G (p.Pro631Arg)Developmental and epileptic encephalopathy, 30 [RCV003081961]|not provided [RCV004598238]uncertain significance214341762743417627Human1name
156179840CV1924420single nucleotide variantNM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)Developmental and epileptic encephalopathy, 30 [RCV002625003]|Inborn genetic diseases [RCV003162070]benign|likely benign|conflicting interpretations of pathogenicity214341694243416942Human2name
155911956CV1935278single nucleotide variantNM_173354.5(SIK1):c.2099C>T (p.Thr700Ile)Developmental and epileptic encephalopathy, 30 [RCV002510607]uncertain significance214341699543416995Human1name
155913060CV1935400single nucleotide variantNM_173354.5(SIK1):c.1463G>T (p.Cys488Phe)Developmental and epileptic encephalopathy, 30 [RCV002510734]uncertain significance214341854143418541Human1name
156439090CV1943959single nucleotide variantNM_173354.5(SIK1):c.2053G>A (p.Val685Met)Developmental and epileptic encephalopathy, 30 [RCV003109043]uncertain significance214341704143417041Human1name
156437435CV1947442single nucleotide variantNM_173354.5(SIK1):c.1922C>T (p.Ala641Val)Developmental and epileptic encephalopathy, 30 [RCV003106972]uncertain significance214341759743417597Human1name
156409071CV1954633single nucleotide variantNM_173354.5(SIK1):c.1262T>C (p.Val421Ala)Developmental and epileptic encephalopathy, 30 [RCV002586703]uncertain significance214341922143419221Human1name
156256611CV1960888single nucleotide variantNM_173354.5(SIK1):c.1408C>T (p.Arg470Trp)Developmental and epileptic encephalopathy, 30 [RCV002576708]uncertain significance214341907543419075Human1name
156354444CV1962272single nucleotide variantNM_173354.5(SIK1):c.1495C>G (p.Pro499Ala)Developmental and epileptic encephalopathy, 30 [RCV002581292]uncertain significance214341850943418509Human1name
156335825CV1966872single nucleotide variantNM_173354.5(SIK1):c.1793G>C (p.Gly598Ala)Developmental and epileptic encephalopathy, 30 [RCV002601024]uncertain significance214341772643417726Human1name
156335840CV1966873single nucleotide variantNM_173354.5(SIK1):c.1051G>T (p.Ala351Ser)Developmental and epileptic encephalopathy, 30 [RCV002601025]uncertain significance214341992743419927Human1name
156419497CV1967281single nucleotide variantNM_173354.5(SIK1):c.1661C>T (p.Ala554Val)Developmental and epileptic encephalopathy, 30 [RCV002612734]uncertain significance214341834343418343Human1name
156326904CV1972776single nucleotide variantNM_173354.5(SIK1):c.1036A>G (p.Lys346Glu)Developmental and epileptic encephalopathy, 30 [RCV002600579]uncertain significance214341994243419942Human1name
156337146CV1988402single nucleotide variantNM_173354.5(SIK1):c.2135C>A (p.Pro712Gln)Developmental and epileptic encephalopathy, 30 [RCV002631243]uncertain significance214341695943416959Human1name
156327939CV1990697single nucleotide variantNM_173354.5(SIK1):c.1898A>G (p.Gln633Arg)Developmental and epileptic encephalopathy, 30 [RCV002630762]uncertain significance214341762143417621Human1name
156284992CV2001646single nucleotide variantNM_173354.5(SIK1):c.1721C>T (p.Ala574Val)Developmental and epileptic encephalopathy, 30 [RCV002646974]uncertain significance214341828343418283Human1name
156373177CV2028265single nucleotide variantNM_173354.5(SIK1):c.1728C>G (p.Asp576Glu)Developmental and epileptic encephalopathy, 30 [RCV002721692]uncertain significance214341827643418276Human1name
155998545CV2045407single nucleotide variantNM_173354.5(SIK1):c.1829G>C (p.Arg610Pro)Developmental and epileptic encephalopathy, 30 [RCV002756086]uncertain significance214341769043417690Human1name
156334121CV2057670single nucleotide variantNM_173354.5(SIK1):c.1445C>T (p.Ser482Phe)Developmental and epileptic encephalopathy, 30 [RCV002810841]uncertain significance214341903843419038Human1name
156116198CV2058489single nucleotide variantNM_173354.5(SIK1):c.2230G>C (p.Val744Leu)Developmental and epileptic encephalopathy, 30 [RCV002825116]uncertain significance214341686443416864Human1name
156015120CV2061564single nucleotide variantNM_173354.5(SIK1):c.1789A>G (p.Lys597Glu)Developmental and epileptic encephalopathy, 30 [RCV002820335]uncertain significance214341773043417730Human1name
155910465CV2069374single nucleotide variantNM_173354.5(SIK1):c.2302A>G (p.Met768Val)Developmental and epileptic encephalopathy, 30 [RCV002837672]uncertain significance214341679243416792Human1name
156299544CV2069836single nucleotide variantNM_173354.5(SIK1):c.1823T>C (p.Leu608Pro)Developmental and epileptic encephalopathy, 30 [RCV002833556]uncertain significance214341769643417696Human1name
156260769CV2099077single nucleotide variantNM_173354.5(SIK1):c.1330A>G (p.Ile444Val)Developmental and epileptic encephalopathy, 30 [RCV002895570]uncertain significance214341915343419153Human1name
156073357CV2102062single nucleotide variantNM_173354.5(SIK1):c.2123T>C (p.Leu708Pro)Developmental and epileptic encephalopathy, 30 [RCV002912455]uncertain significance214341697143416971Human1name
156367522CV2116881single nucleotide variantNM_173354.5(SIK1):c.1918G>T (p.Gly640Cys)Developmental and epileptic encephalopathy, 30 [RCV002942066]uncertain significance214341760143417601Human1name
155914037CV2149620single nucleotide variantNM_173354.5(SIK1):c.1477C>A (p.Pro493Thr)Developmental and epileptic encephalopathy, 30 [RCV003012467]uncertain significance214341852743418527Human1name
156203442CV2150240single nucleotide variantNM_173354.5(SIK1):c.1341G>C (p.Glu447Asp)Developmental and epileptic encephalopathy, 30 [RCV003006406]uncertain significance214341914243419142Human1name
156238053CV2154496single nucleotide variantNM_173354.5(SIK1):c.1990C>T (p.Gln664Ter)Developmental and epileptic encephalopathy, 30 [RCV003025902]uncertain significance214341710443417104Human1name
156090090CV2155592single nucleotide variantNM_173354.5(SIK1):c.1151T>A (p.Phe384Tyr)Developmental and epileptic encephalopathy, 30 [RCV003020651]uncertain significance214341944743419447Human1name
156209951CV2175617single nucleotide variantNM_173354.5(SIK1):c.2279G>A (p.Gly760Glu)Developmental and epileptic encephalopathy, 30 [RCV003024767]uncertain significance214341681543416815Human1name
156320533CV2182596single nucleotide variantNM_173354.5(SIK1):c.1799T>A (p.Leu600Gln)Developmental and epileptic encephalopathy, 30 [RCV003046571]|Inborn genetic diseases [RCV005281293]uncertain significance214341772043417720Human2name
155962857CV2183656single nucleotide variantNM_173354.5(SIK1):c.1097G>A (p.Ser366Asn)Developmental and epileptic encephalopathy, 30 [RCV003033028]uncertain significance214341988143419881Human1name
156126880CV2185703single nucleotide variantNM_173354.5(SIK1):c.1394C>T (p.Pro465Leu)Developmental and epileptic encephalopathy, 30 [RCV003055685]uncertain significance214341908943419089Human1name
156051247CV2237966single nucleotide variantNM_173354.5(SIK1):c.1547G>A (p.Ser516Asn)Inborn genetic diseases [RCV002782033]uncertain significance214341845743418457Human1name
156364474CV2342023single nucleotide variantNM_173354.5(SIK1):c.1078A>G (p.Arg360Gly)Inborn genetic diseases [RCV002941838]uncertain significance214341990043419900Human1name
156439909CV2401590single nucleotide variantNM_173354.5(SIK1):c.1291C>T (p.Pro431Ser)not provided [RCV003109878]uncertain significance214341919243419192Humanname
243060694CV2408548single nucleotide variantNM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)Developmental and epileptic encephalopathy, 30 [RCV003136677]uncertain significance214341703543417035Human1name
401758779CV2694274single nucleotide variantNM_173354.5(SIK1):c.1450C>T (p.Leu484Phe)Developmental and epileptic encephalopathy, 30 [RCV005102571]|Inborn genetic diseases [RCV003279906]uncertain significance214341903343419033Human2name
11639296CV269845single nucleotide variantNM_173354.5(SIK1):c.1210G>A (p.Glu404Lys)Developmental and epileptic encephalopathy, 30 [RCV001345589]|not provided [RCV000316940]uncertain significance214341938843419388Human1name
401743338CV2715456single nucleotide variantNM_173354.5(SIK1):c.1871G>T (p.Gly624Val)Inborn genetic diseases [RCV003293055]likely benign214341764843417648Human1name
401796834CV2739809single nucleotide variantNM_173354.5(SIK1):c.1936G>A (p.Glu646Lys)not provided [RCV003319770]uncertain significance214341758343417583Humanname
401860291CV2768544single nucleotide variantNM_173354.5(SIK1):c.2333C>T (p.Thr778Met)Inborn genetic diseases [RCV003357396]uncertain significance214341676143416761Human1name
401887481CV2773329single nucleotide variantNM_173354.5(SIK1):c.1525C>A (p.Leu509Met)Inborn genetic diseases [RCV003367124]uncertain significance214341847943418479Human1name
401930621CV2824804single nucleotide variantNM_173354.5(SIK1):c.2117T>A (p.Leu706His)Developmental and epileptic encephalopathy, 30 [RCV003778421]|not provided [RCV003440595]uncertain significance214341697743416977Human1name
401912743CV2829969single nucleotide variantNM_173354.5(SIK1):c.1648C>T (p.Pro550Ser)not provided [RCV003441183]uncertain significance214341835643418356Humanname
401912744CV2829970single nucleotide variantNM_173354.5(SIK1):c.1670G>T (p.Gly557Val)not provided [RCV003441184]uncertain significance214341833443418334Humanname
404999630CV2851019single nucleotide variantNM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)Developmental and epileptic encephalopathy, 30 [RCV003493155]uncertain significance214341905043419050Human1name
405188389CV2862064single nucleotide variantNM_173354.5(SIK1):c.1972C>T (p.Gln658Ter)Developmental and epileptic encephalopathy, 30 [RCV003589651]uncertain significance214341754743417547Human1name
405182716CV2863819single nucleotide variantNM_173354.5(SIK1):c.1795T>A (p.Phe599Ile)Developmental and epileptic encephalopathy, 30 [RCV003588940]uncertain significance214341772443417724Human1name
405183011CV2864236single nucleotide variantNM_173354.5(SIK1):c.1510A>C (p.Ser504Arg)Developmental and epileptic encephalopathy, 30 [RCV003588980]uncertain significance214341849443418494Human1name
405197272CV2869724single nucleotide variantNM_173354.5(SIK1):c.2129C>T (p.Pro710Leu)Developmental and epileptic encephalopathy, 30 [RCV003590700]uncertain significance214341696543416965Human1name
405175758CV2888753single nucleotide variantNM_173354.5(SIK1):c.1852A>G (p.Ser618Gly)Developmental and epileptic encephalopathy, 30 [RCV003588081]uncertain significance214341766743417667Human1name
405184707CV2896528single nucleotide variantNM_173354.5(SIK1):c.1915G>C (p.Gly639Arg)Developmental and epileptic encephalopathy, 30 [RCV003589226]uncertain significance214341760443417604Human1name
405184667CV2900638single nucleotide variantNM_173354.5(SIK1):c.2258C>G (p.Ala753Gly)Developmental and epileptic encephalopathy, 30 [RCV003589221]uncertain significance214341683643416836Human1name
405184926CV2903420single nucleotide variantNM_173354.5(SIK1):c.1120G>T (p.Val374Leu)Developmental and epileptic encephalopathy, 30 [RCV003589252]uncertain significance214341947843419478Human1name
405187053CV2915965single nucleotide variantNM_173354.5(SIK1):c.1084C>T (p.Pro362Ser)Developmental and epileptic encephalopathy, 30 [RCV003589500]uncertain significance214341989443419894Human1name
405191813CV2920063single nucleotide variantNM_173354.5(SIK1):c.1805T>C (p.Leu602Pro)Developmental and epileptic encephalopathy, 30 [RCV003590034]uncertain significance214341771443417714Human1name
405193615CV2921659single nucleotide variantNM_173354.5(SIK1):c.1258C>A (p.Pro420Thr)Developmental and epileptic encephalopathy, 30 [RCV003590245]uncertain significance214341922543419225Human1name
405195065CV2931910single nucleotide variantNM_173354.5(SIK1):c.1280G>C (p.Gly427Ala)Developmental and epileptic encephalopathy, 30 [RCV003590420]uncertain significance214341920343419203Human1name
405200152CV2933775single nucleotide variantNM_173354.5(SIK1):c.2026G>A (p.Ala676Thr)Developmental and epileptic encephalopathy, 30 [RCV003591114]uncertain significance214341706843417068Human1name
405108485CV2938784single nucleotide variantNM_173354.5(SIK1):c.1580A>C (p.Gln527Pro)Developmental and epileptic encephalopathy, 30 [RCV003751077]uncertain significance214341842443418424Human1name
405108162CV2946583single nucleotide variantNM_173354.5(SIK1):c.2263G>C (p.Gly755Arg)Developmental and epileptic encephalopathy, 30 [RCV003751003]uncertain significance214341683143416831Human1name
405108633CV2953076single nucleotide variantNM_173354.5(SIK1):c.1945A>C (p.Ser649Arg)Developmental and epileptic encephalopathy, 30 [RCV003751109]uncertain significance214341757443417574Human1name
405111756CV2956225single nucleotide variantNM_173354.5(SIK1):c.1688T>C (p.Leu563Pro)Developmental and epileptic encephalopathy, 30 [RCV003751622]uncertain significance214341831643418316Human1name
405112249CV2968964single nucleotide variantNM_173354.5(SIK1):c.2062C>T (p.Pro688Ser)Developmental and epileptic encephalopathy, 30 [RCV003751763]uncertain significance214341703243417032Human1name
405112017CV2972210single nucleotide variantNM_173354.5(SIK1):c.2230G>A (p.Val744Met)Developmental and epileptic encephalopathy, 30 [RCV003751724]uncertain significance214341686443416864Human1name
405111591CV2973798single nucleotide variantNM_173354.5(SIK1):c.1829G>A (p.Arg610His)Developmental and epileptic encephalopathy, 30 [RCV003751653]uncertain significance214341769043417690Human1name
405113224CV2979146single nucleotide variantNM_173354.5(SIK1):c.2173G>A (p.Ala725Thr)Developmental and epileptic encephalopathy, 30 [RCV003751933]uncertain significance214341692143416921Human1name
405113138CV2981144single nucleotide variantNM_173354.5(SIK1):c.2189C>T (p.Thr730Ile)Developmental and epileptic encephalopathy, 30 [RCV003751870]uncertain significance214341690543416905Human1name
405113742CV2991133single nucleotide variantNM_173354.5(SIK1):c.1801G>A (p.Gly601Arg)Developmental and epileptic encephalopathy, 30 [RCV003752021]uncertain significance214341771843417718Human1name
405114815CV3004397single nucleotide variantNM_173354.5(SIK1):c.1887C>A (p.His629Gln)Developmental and epileptic encephalopathy, 30 [RCV003752200]uncertain significance214341763243417632Human1name
405115941CV3007024single nucleotide variantNM_173354.5(SIK1):c.1298C>A (p.Pro433His)Developmental and epileptic encephalopathy, 30 [RCV003752361]uncertain significance214341918543419185Human1name
405116576CV3017220single nucleotide variantNM_173354.5(SIK1):c.1319T>A (p.Leu440Gln)Developmental and epileptic encephalopathy, 30 [RCV003752372]uncertain significance214341916443419164Human1name
405105319CV3034326single nucleotide variantNM_173354.5(SIK1):c.1045C>T (p.Arg349Trp)Developmental and epileptic encephalopathy, 30 [RCV003750309]uncertain significance214341993343419933Human1name
405109451CV3058882single nucleotide variantNM_173354.5(SIK1):c.2255T>C (p.Leu752Pro)Developmental and epileptic encephalopathy, 30 [RCV003751273]uncertain significance214341683943416839Human1name
405107221CV3064449single nucleotide variantNM_173354.5(SIK1):c.1057T>C (p.Cys353Arg)Developmental and epileptic encephalopathy, 30 [RCV003750741]uncertain significance214341992143419921Human1name
405107067CV3067488single nucleotide variantNM_173354.5(SIK1):c.1066C>T (p.Pro356Ser)Developmental and epileptic encephalopathy, 30 [RCV003750667]|Inborn genetic diseases [RCV004968422]likely benign|uncertain significance214341991243419912Human2name
405110488CV3073620single nucleotide variantNM_173354.5(SIK1):c.2083G>C (p.Ala695Pro)Developmental and epileptic encephalopathy, 30 [RCV003751467]uncertain significance214341701143417011Human1name
405110707CV3074277single nucleotide variantNM_173354.5(SIK1):c.1144G>C (p.Asp382His)Developmental and epileptic encephalopathy, 30 [RCV003751507]uncertain significance214341945443419454Human1name
404981195CV3121117single nucleotide variantNM_173354.5(SIK1):c.1666G>C (p.Gly556Arg)Developmental and epileptic encephalopathy, 30 [RCV003826109]uncertain significance214341833843418338Human1name
405138897CV3130837single nucleotide variantNM_173354.5(SIK1):c.1933C>T (p.Arg645Trp)Developmental and epileptic encephalopathy, 30 [RCV003839071]uncertain significance214341758643417586Human1name
405024865CV3133014single nucleotide variantNM_173354.5(SIK1):c.1175A>G (p.Gln392Arg)Developmental and epileptic encephalopathy, 30 [RCV003830161]uncertain significance214341942343419423Human1name
405213498CV3142808single nucleotide variantNM_173354.5(SIK1):c.1193A>G (p.Gln398Arg)Developmental and epileptic encephalopathy, 30 [RCV003846166]uncertain significance214341940543419405Human1name
405229539CV3153426single nucleotide variantNM_173354.5(SIK1):c.1967A>G (p.Glu656Gly)Developmental and epileptic encephalopathy, 30 [RCV003848490]uncertain significance214341755243417552Human1name
405216956CV3160848single nucleotide variantNM_173354.5(SIK1):c.1351G>T (p.Gly451Trp)Developmental and epileptic encephalopathy, 30 [RCV003862910]uncertain significance214341913243419132Human1name
405150211CV3162848single nucleotide variantNM_173354.5(SIK1):c.2195T>G (p.Leu732Arg)Developmental and epileptic encephalopathy, 30 [RCV003856291]uncertain significance214341689943416899Human1name
405255269CV3176104single nucleotide variantNM_173354.5(SIK1):c.1478C>G (p.Pro493Arg)Developmental and epileptic encephalopathy, 30 [RCV003872188]uncertain significance214341852643418526Human1name
405229987CV3176702single nucleotide variantNM_173354.5(SIK1):c.1679G>A (p.Gly560Glu)Developmental and epileptic encephalopathy, 30 [RCV003865076]uncertain significance214341832543418325Human1name
405281466CV3224142single nucleotide variantNM_173354.5(SIK1):c.1345A>T (p.Arg449Trp)not specified [RCV003988524]uncertain significance214341913843419138Humanname
405691412CV3227468single nucleotide variantNM_173354.5(SIK1):c.1582G>A (p.Gly528Arg)Developmental and epileptic encephalopathy, 30 [RCV003991813]likely benign214341842243418422Human1name
405750140CV3311546single nucleotide variantNM_173354.5(SIK1):c.1478C>T (p.Pro493Leu)Developmental and epileptic encephalopathy, 30 [RCV005065109]|Inborn genetic diseases [RCV004453658]uncertain significance214341852643418526Human2name
405750147CV3311547single nucleotide variantNM_173354.5(SIK1):c.2257G>T (p.Ala753Ser)Inborn genetic diseases [RCV004453659]likely benign214341683743416837Human1name
407519279CV3480737single nucleotide variantNM_173354.5(SIK1):c.2093C>G (p.Pro698Arg)Inborn genetic diseases [RCV004676428]uncertain significance214341700143417001Human1name
407574174CV3498523single nucleotide variantNM_173354.5(SIK1):c.1580A>G (p.Gln527Arg)not specified [RCV004702999]uncertain significance214341842443418424Humanname
596927458CV3536713single nucleotide variantNM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr)Developmental and epileptic encephalopathy, 30 [RCV004790123]uncertain significance214341675843416758Human1name
596927473CV3536718single nucleotide variantNM_173354.5(SIK1):c.1658A>C (p.Gln553Pro)Developmental and epileptic encephalopathy, 30 [RCV004790128]uncertain significance214341834643418346Human1name
12849120CV363759single nucleotide variantNM_173354.5(SIK1):c.2087C>T (p.Pro696Leu)Developmental and epileptic encephalopathy, 30 [RCV000546024]|Inborn genetic diseases [RCV002314121]|not provided [RCV000424372]benign|likely benign214341700743417007Human2name
12849757CV364017single nucleotide variantNM_173354.5(SIK1):c.1215G>A (p.Met405Ile)Developmental and epileptic encephalopathy, 30 [RCV000990353]|Inborn genetic diseases [RCV002311443]|not provided [RCV000435369]benign|likely benign214341938343419383Human2name
597851719CV3737562single nucleotide variantNM_173354.5(SIK1):c.1651G>C (p.Val551Leu)Developmental and epileptic encephalopathy, 30 [RCV005066335]uncertain significance214341835343418353Human1name
597886630CV3741851single nucleotide variantNM_173354.5(SIK1):c.1276A>G (p.Ser426Gly)Developmental and epileptic encephalopathy, 30 [RCV005070571]uncertain significance214341920743419207Human1name
597831059CV3743766single nucleotide variantNM_173354.5(SIK1):c.1648C>G (p.Pro550Ala)Developmental and epileptic encephalopathy, 30 [RCV005062583]uncertain significance214341835643418356Human1name
597831261CV3750867single nucleotide variantNM_173354.5(SIK1):c.1834G>C (p.Val612Leu)Developmental and epileptic encephalopathy, 30 [RCV005084611]uncertain significance214341768543417685Human1name
597838987CV3758291single nucleotide variantNM_173354.5(SIK1):c.1439G>T (p.Arg480Leu)Developmental and epileptic encephalopathy, 30 [RCV005086126]uncertain significance214341904443419044Human1name
597847547CV3762054single nucleotide variantNM_173354.5(SIK1):c.1867G>A (p.Gly623Ser)Developmental and epileptic encephalopathy, 30 [RCV005087472]uncertain significance214341765243417652Human1name
597868376CV3764460single nucleotide variantNM_173354.5(SIK1):c.2293G>A (p.Asp765Asn)Developmental and epileptic encephalopathy, 30 [RCV005107260]uncertain significance214341680143416801Human1name
597868383CV3764462single nucleotide variantNM_173354.5(SIK1):c.1171C>T (p.Pro391Ser)Developmental and epileptic encephalopathy, 30 [RCV005107262]uncertain significance214341942743419427Human1name
597876314CV3766594single nucleotide variantNM_173354.5(SIK1):c.1109G>A (p.Ser370Asn)Developmental and epileptic encephalopathy, 30 [RCV005108534]uncertain significance214341986943419869Human1name
597909930CV3806521single nucleotide variantNM_173354.5(SIK1):c.2060C>G (p.Ala687Gly)Developmental and epileptic encephalopathy, 30 [RCV005154088]uncertain significance214341703443417034Human1name
597896084CV3810491single nucleotide variantNM_173354.5(SIK1):c.1966G>C (p.Glu656Gln)Developmental and epileptic encephalopathy, 30 [RCV005152016]uncertain significance214341755343417553Human1name
597874266CV3816814single nucleotide variantNM_173354.5(SIK1):c.1229A>C (p.Gln410Pro)Developmental and epileptic encephalopathy, 30 [RCV005148867]uncertain significance214341936943419369Human1name
597835491CV3828228single nucleotide variantNM_173354.5(SIK1):c.1250T>C (p.Leu417Ser)Developmental and epileptic encephalopathy, 30 [RCV005171120]uncertain significance214341923343419233Human1name
597893714CV3833466single nucleotide variantNM_173354.5(SIK1):c.1438C>T (p.Arg480Cys)Developmental and epileptic encephalopathy, 30 [RCV005180158]|Inborn genetic diseases [RCV005283619]likely benign|uncertain significance214341904543419045Human2name
597924887CV3840478single nucleotide variantNM_173354.5(SIK1):c.1775A>G (p.Lys592Arg)Developmental and epileptic encephalopathy, 30 [RCV005184949]uncertain significance214341774443417744Human1name
597950823CV3847059single nucleotide variantNM_173354.5(SIK1):c.2062C>A (p.Pro688Thr)Developmental and epileptic encephalopathy, 30 [RCV005190231]uncertain significance214341703243417032Human1name
598257397CV3914539single nucleotide variantNM_173354.5(SIK1):c.1663C>A (p.Gln555Lys)Inborn genetic diseases [RCV005279192]uncertain significance214341834143418341Human1name
598199490CV3914540single nucleotide variantNM_173354.5(SIK1):c.2249C>T (p.Ala750Val)Inborn genetic diseases [RCV005268402]uncertain significance214341684543416845Human1name
616937908CV4013807single nucleotide variantNM_173354.5(SIK1):c.2290G>C (p.Gly764Arg)Developmental and epileptic encephalopathy, 30 [RCV005413299]uncertain significance214341680443416804Human1name
13445869CV438217single nucleotide variantNM_173354.5(SIK1):c.1259C>T (p.Pro420Leu)Developmental and epileptic encephalopathy, 30 [RCV000802030]|not provided [RCV000512961]likely benign|uncertain significance214341922443419224Human1name
13484536CV446327single nucleotide variantNM_173354.5(SIK1):c.2191C>A (p.His731Asn)not provided [RCV000522362]uncertain significance214341690343416903Humanname
13466511CV469658single nucleotide variantNM_173354.5(SIK1):c.1604C>T (p.Pro535Leu)Developmental and epileptic encephalopathy, 30 [RCV000551430]uncertain significance214341840043418400Human1name
13497838CV469663single nucleotide variantNM_173354.5(SIK1):c.1489G>T (p.Ala497Ser)Developmental and epileptic encephalopathy, 30 [RCV000526239]|Inborn genetic diseases [RCV002395477]benign|likely benign214341851543418515Human2name
13500696CV469665single nucleotide variantNM_173354.5(SIK1):c.1471G>C (p.Val491Leu)Developmental and epileptic encephalopathy, 30 [RCV000538008]|Inborn genetic diseases [RCV002316586]|not provided [RCV003437284]benign|likely benign|uncertain significance214341853343418533Human2name
13468947CV470691single nucleotide variantNM_173354.5(SIK1):c.2243G>A (p.Arg748His)Developmental and epileptic encephalopathy, 30 [RCV000560539]|Inborn genetic diseases [RCV002311888]likely benign|conflicting interpretations of pathogenicity|uncertain significance214341685143416851Human2name
13500067CV470696single nucleotide variantNM_173354.5(SIK1):c.2204G>A (p.Gly735Asp)Developmental and epileptic encephalopathy, 30 [RCV000535373]|Inborn genetic diseases [RCV002316588]benign|likely benign214341689043416890Human2name
13468400CV470703single nucleotide variantNM_173354.5(SIK1):c.2093C>T (p.Pro698Leu)Developmental and epileptic encephalopathy, 30 [RCV000558419]likely benign|uncertain significance214341700143417001Human1name
13498527CV470705single nucleotide variantNM_173354.5(SIK1):c.2072G>A (p.Gly691Asp)Developmental and epileptic encephalopathy, 30 [RCV000529277]|Inborn genetic diseases [RCV002315034]|not provided [RCV003437287]benign|likely benign214341702243417022Human2name
13467020CV470707single nucleotide variantNM_173354.5(SIK1):c.2014G>A (p.Gly672Ser)Developmental and epileptic encephalopathy, 30 [RCV000553286]benign|uncertain significance214341708043417080Human1name
13467435CV470729single nucleotide variantNM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr)Developmental and epileptic encephalopathy, 30 [RCV000554654]uncertain significance214341945943419459Human1name
13464419CV470733single nucleotide variantNM_173354.5(SIK1):c.1129G>A (p.Glu377Lys)Developmental and epileptic encephalopathy, 30 [RCV000542044]benign|uncertain significance214341946943419469Human1name
13467114CV470739single nucleotide variantNM_173354.5(SIK1):c.1072C>G (p.Pro358Ala)Developmental and epileptic encephalopathy, 30 [RCV000553595]|Inborn genetic diseases [RCV002316583]|not provided [RCV003326465]benign|likely benign214341990643419906Human2name
13465704CV471231single nucleotide variantNM_173354.5(SIK1):c.2242C>T (p.Arg748Cys)Developmental and epileptic encephalopathy, 30 [RCV000548146]|Inborn genetic diseases [RCV002526726]uncertain significance214341685243416852Human2name
13468660CV471232single nucleotide variantNM_173354.5(SIK1):c.2174C>T (p.Ala725Val)Developmental and epileptic encephalopathy, 30 [RCV000559345]|Inborn genetic diseases [RCV002311887]|not provided [RCV004712888]benign214341692043416920Human2name
13468808CV471696single nucleotide variantNM_173354.5(SIK1):c.1288C>T (p.Arg430Trp)Developmental and epileptic encephalopathy, 30 [RCV001084738]|Inborn genetic diseases [RCV002315032]|not provided [RCV000559968]benign214341919543419195Human2name
13464623CV471700single nucleotide variantNM_173354.5(SIK1):c.1259C>A (p.Pro420Gln)Developmental and epileptic encephalopathy, 30 [RCV000543156]|Inborn genetic diseases [RCV002413635]uncertain significance214341922443419224Human2name
13532706CV512495single nucleotide variantNM_173354.5(SIK1):c.1828C>T (p.Arg610Cys)Developmental and epileptic encephalopathy, 30 [RCV001868150]|Inborn genetic diseases [RCV000624457]uncertain significance214341769143417691Human2name
13625229CV533909single nucleotide variantNM_173354.5(SIK1):c.1571C>T (p.Pro524Leu)Developmental and epileptic encephalopathy, 30 [RCV000653187]|not provided [RCV003437385]uncertain significance214341843343418433Human1name
13625234CV533912single nucleotide variantNM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)Developmental and epileptic encephalopathy, 30 [RCV000653192]conflicting interpretations of pathogenicity|uncertain significance214341758543417585Human1name
13625281CV533913single nucleotide variantNM_173354.5(SIK1):c.1418C>A (p.Thr473Asn)Developmental and epileptic encephalopathy, 30 [RCV000653185]uncertain significance214341906543419065Human1name
13625228CV533915single nucleotide variantNM_173354.5(SIK1):c.1379C>T (p.Thr460Met)Developmental and epileptic encephalopathy, 30 [RCV000653186]benign|uncertain significance214341910443419104Human1name
13625231CV533917single nucleotide variantNM_173354.5(SIK1):c.1553C>T (p.Ala518Val)Developmental and epileptic encephalopathy, 30 [RCV000653189]|Inborn genetic diseases [RCV002315979]|not provided [RCV004584786]benign|likely benign|uncertain significance214341845143418451Human2name
13625232CV533922single nucleotide variantNM_173354.5(SIK1):c.1219T>C (p.Cys407Arg)Developmental and epileptic encephalopathy, 30 [RCV000653190]|not provided [RCV001508001]uncertain significance214341937943419379Human1name
13625222CV533927single nucleotide variantNM_173354.5(SIK1):c.1069G>A (p.Gly357Arg)Developmental and epileptic encephalopathy, 30 [RCV000653180]likely benign|uncertain significance214341990943419909Human1name
13625230CV533929single nucleotide variantNM_173354.5(SIK1):c.1064G>A (p.Arg355His)Developmental and epileptic encephalopathy, 30 [RCV000653188]|Inborn genetic diseases [RCV002315978]|not provided [RCV002060776]benign|likely benign|uncertain significance214341991443419914Human2name
13625226CV533975single nucleotide variantNM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys)Developmental and epileptic encephalopathy, 30 [RCV000653184]likely benign|uncertain significance214341993543419935Human1name
13811863CV571580single nucleotide variantNM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr)Developmental and epileptic encephalopathy, 30 [RCV000689045]uncertain significance214341680143416801Human1name
13811884CV571583single nucleotide variantNM_173354.5(SIK1):c.2074C>G (p.Pro692Ala)Developmental and epileptic encephalopathy, 30 [RCV000689060]uncertain significance214341702043417020Human1name
13817335CV571587single nucleotide variantNM_173354.5(SIK1):c.1370A>C (p.Glu457Ala)Developmental and epileptic encephalopathy, 30 [RCV000692954]|Inborn genetic diseases [RCV004025139]benign|likely benign|uncertain significance214341911343419113Human2name
13806726CV571591single nucleotide variantNM_173354.5(SIK1):c.1094G>A (p.Arg365Gln)Developmental and epileptic encephalopathy, 30 [RCV000686120]|Inborn genetic diseases [RCV002458202]likely benign|uncertain significance214341988443419884Human2name
13818860CV573815single nucleotide variantNM_173354.5(SIK1):c.2108C>T (p.Thr703Met)Developmental and epileptic encephalopathy, 30 [RCV000693990]benign|uncertain significance214341698643416986Human1name
13806334CV573817single nucleotide variantNM_173354.5(SIK1):c.1843G>A (p.Ala615Thr)Developmental and epileptic encephalopathy, 30 [RCV000700529]|Inborn genetic diseases [RCV002406620]|not provided [RCV004692164]likely benign|uncertain significance214341767643417676Human2name
13818346CV573824single nucleotide variantNM_173354.5(SIK1):c.1031G>A (p.Arg344Gln)Developmental and epileptic encephalopathy, 30 [RCV000693649]uncertain significance214341994743419947Human1name
13814882CV575174single nucleotide variantNM_173354.5(SIK1):c.1538C>T (p.Ala513Val)Developmental and epileptic encephalopathy, 30 [RCV000691190]likely benign|conflicting interpretations of pathogenicity|uncertain significance214341846643418466Human1name
13821606CV575175single nucleotide variantNM_173354.5(SIK1):c.1457C>T (p.Ala486Val)Developmental and epileptic encephalopathy, 30 [RCV000696137]likely benign|conflicting interpretations of pathogenicity|uncertain significance214341902643419026Human1name
13807903CV575176single nucleotide variantNM_173354.5(SIK1):c.1393C>T (p.Pro465Ser)Developmental and epileptic encephalopathy, 30 [RCV000701386]uncertain significance214341909043419090Human1name
13801451CV577896single nucleotide variantNM_173354.5(SIK1):c.1844C>T (p.Ala615Val)Developmental and epileptic encephalopathy, 30 [RCV000990352]|Inborn genetic diseases [RCV002312250]|not provided [RCV000713289]|not specified [RCV004597868]benign214341767543417675Human2name
13829106CV580479single nucleotide variantNM_173354.5(SIK1):c.2104C>A (p.Leu702Ile)Inborn genetic diseases [RCV002314526]uncertain significance214341699043416990Human1name
13828733CV580484single nucleotide variantNM_173354.5(SIK1):c.2011C>T (p.Pro671Ser)Inborn genetic diseases [RCV002316024]uncertain significance214341708343417083Human1name
13830736CV580589single nucleotide variantNM_173354.5(SIK1):c.2059G>A (p.Ala687Thr)Developmental and epileptic encephalopathy, 30 [RCV001034152]|Inborn genetic diseases [RCV002318327]|not provided [RCV004721577]benign|likely benign214341703543417035Human2name
13829707CV580596single nucleotide variantNM_173354.5(SIK1):c.2033A>C (p.Gln678Pro)Developmental and epileptic encephalopathy, 30 [RCV001369004]|Inborn genetic diseases [RCV002318012]|not provided [RCV004692209]uncertain significance214341706143417061Human2name
13828937CV580597single nucleotide variantNM_173354.5(SIK1):c.1300G>C (p.Val434Leu)Developmental and epileptic encephalopathy, 30 [RCV000954028]|Inborn genetic diseases [RCV002316174]|not provided [RCV003437409]benign|likely benign214341918343419183Human2name
13829699CV580638single nucleotide variantNM_173354.5(SIK1):c.2209G>A (p.Gly737Ser)Developmental and epileptic encephalopathy, 30 [RCV001039542]|Inborn genetic diseases [RCV002318006]likely benign|uncertain significance214341688543416885Human2name
13830458CV580642single nucleotide variantNM_173354.5(SIK1):c.1403C>T (p.Thr468Met)Developmental and epileptic encephalopathy, 30 [RCV001043301]|Inborn genetic diseases [RCV002317577]likely benign|uncertain significance214341908043419080Human2name
13830612CV580722single nucleotide variantNM_173354.5(SIK1):c.2225C>T (p.Pro742Leu)Developmental and epileptic encephalopathy, 30 [RCV002534980]|Inborn genetic diseases [RCV002318206]likely benign|uncertain significance214341686943416869Human2name
13829235CV580723single nucleotide variantNM_173354.5(SIK1):c.2086C>T (p.Pro696Ser)Developmental and epileptic encephalopathy, 30 [RCV001862039]|Inborn genetic diseases [RCV002313521]likely benign|uncertain significance214341700843417008Human2name
13830583CV580726single nucleotide variantNM_173354.5(SIK1):c.2048C>T (p.Pro683Leu)Developmental and epileptic encephalopathy, 30 [RCV001057377]|Inborn genetic diseases [RCV002318178]likely benign|uncertain significance214341704643417046Human2name
13830399CV580734single nucleotide variantNM_173354.5(SIK1):c.2005G>A (p.Ala669Thr)Developmental and epileptic encephalopathy, 30 [RCV001034283]|Inborn genetic diseases [RCV002317521]benign|likely benign|uncertain significance214341708943417089Human2name
13829188CV580736single nucleotide variantNM_173354.5(SIK1):c.1154G>A (p.Arg385Gln)Developmental and epileptic encephalopathy, 30 [RCV000792606]|Inborn genetic diseases [RCV002313469]uncertain significance214341944443419444Human2name
13830532CV580739single nucleotide variantNM_173354.5(SIK1):c.1046G>A (p.Arg349Gln)Developmental and epileptic encephalopathy, 30 [RCV001862078]|Inborn genetic diseases [RCV002318129]uncertain significance214341993243419932Human2name
14710297CV650484single nucleotide variantNM_173354.5(SIK1):c.1198G>T (p.Val400Phe)Developmental and epileptic encephalopathy, 30 [RCV000814099]|Inborn genetic diseases [RCV002345858]|not provided [RCV001532456]likely benign|uncertain significance214341940043419400Human2name
14705640CV650485single nucleotide variantNM_173354.5(SIK1):c.1208C>G (p.Ala403Gly)Developmental and epileptic encephalopathy, 30 [RCV000801484]uncertain significance214341939043419390Human1name
14704356CV650488single nucleotide variantNM_173354.5(SIK1):c.1289G>A (p.Arg430Gln)Developmental and epileptic encephalopathy, 30 [RCV000797209]|Inborn genetic diseases [RCV004027588]likely benign|uncertain significance214341919443419194Human2name
14706063CV650489single nucleotide variantNM_173354.5(SIK1):c.1355C>T (p.Pro452Leu)Developmental and epileptic encephalopathy, 30 [RCV000802912]|Inborn genetic diseases [RCV002386434]likely benign|uncertain significance214341912843419128Human2name
14711024CV650491single nucleotide variantNM_173354.5(SIK1):c.1568C>T (p.Thr523Ile)Developmental and epileptic encephalopathy, 30 [RCV000816343]uncertain significance214341843643418436Human1name
14711295CV650493single nucleotide variantNM_173354.5(SIK1):c.1628T>C (p.Leu543Pro)Developmental and epileptic encephalopathy, 30 [RCV000817324]likely benign|uncertain significance214341837643418376Human1name
14704383CV650494single nucleotide variantNM_173354.5(SIK1):c.1870G>A (p.Gly624Ser)Developmental and epileptic encephalopathy, 30 [RCV000797255]uncertain significance214341764943417649Human1name
14710963CV650495single nucleotide variantNM_173354.5(SIK1):c.1915G>A (p.Gly639Ser)Developmental and epileptic encephalopathy, 30 [RCV000816229]|not provided [RCV004808892]likely benign|uncertain significance214341760443417604Human1name
14713202CV650496single nucleotide variantNM_173354.5(SIK1):c.1918G>A (p.Gly640Ser)Developmental and epileptic encephalopathy, 30 [RCV000822965]|Inborn genetic diseases [RCV005278679]likely benign|uncertain significance214341760143417601Human2name
14706135CV650499single nucleotide variantNM_173354.5(SIK1):c.2132C>G (p.Pro711Arg)Developmental and epileptic encephalopathy, 30 [RCV000803098]uncertain significance214341696243416962Human1name
15146020CV694637single nucleotide variantNM_173354.5(SIK1):c.1309A>G (p.Ser437Gly)Developmental and epileptic encephalopathy, 30 [RCV000878479]likely benign214341917443419174Human1name
15152490CV705720single nucleotide variantNM_173354.5(SIK1):c.1100C>T (p.Ser367Leu)Developmental and epileptic encephalopathy, 30 [RCV000945893]|Inborn genetic diseases [RCV002454174]likely benign214341987843419878Human2name
15109782CV717229single nucleotide variantNM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)Developmental and epileptic encephalopathy, 30 [RCV000960770]|Inborn genetic diseases [RCV004029892]likely benign|conflicting interpretations of pathogenicity214341693543416935Human2name
15203141CV757841single nucleotide variantNM_173354.5(SIK1):c.2227G>A (p.Ala743Thr)Developmental and epileptic encephalopathy, 30 [RCV000913745]benign214341686743416867Human1name
21067909CV793855single nucleotide variantNM_173354.5(SIK1):c.1085C>T (p.Pro362Leu)Developmental and epileptic encephalopathy, 30 [RCV002549821]|Inborn genetic diseases [RCV004958355]|not provided [RCV000992982]uncertain significance214341989343419893Human2name
21068213CV798030single nucleotide variantNM_173354.5(SIK1):c.2320T>G (p.Cys774Gly)Developmental and epileptic encephalopathy, 30 [RCV001058555]|not provided [RCV000997833]likely benign|uncertain significance214341677443416774Human1name
21405298CV800783single nucleotide variantNM_173354.5(SIK1):c.2191C>T (p.His731Tyr)Developmental and epileptic encephalopathy, 30 [RCV001367566]|Seizure [RCV001003369]likely benign|uncertain significance214341690343416903Human3name
26897189CV822187single nucleotide variantNM_173354.5(SIK1):c.2222T>G (p.Leu741Arg)Developmental and epileptic encephalopathy, 30 [RCV001034029]benign214341687243416872Human1name
26897553CV822188single nucleotide variantNM_173354.5(SIK1):c.2045C>T (p.Ala682Val)Developmental and epileptic encephalopathy, 30 [RCV001034204]benign214341704943417049Human1name
26897104CV822189single nucleotide variantNM_173354.5(SIK1):c.2034G>T (p.Gln678His)Developmental and epileptic encephalopathy, 30 [RCV001033991]|Inborn genetic diseases [RCV002416318]|not provided [RCV002067716]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance214341706043417060Human2name
26897222CV822190single nucleotide variantNM_173354.5(SIK1):c.1739C>T (p.Thr580Ile)Developmental and epileptic encephalopathy, 30 [RCV001034041]|Inborn genetic diseases [RCV003346254]likely benign214341826543418265Human2name
26897266CV822191single nucleotide variantNM_173354.5(SIK1):c.1594G>T (p.Ala532Ser)Developmental and epileptic encephalopathy, 30 [RCV001034067]benign214341841043418410Human1name
26898161CV822192single nucleotide variantNM_173354.5(SIK1):c.1475C>T (p.Ser492Phe)Developmental and epileptic encephalopathy, 30 [RCV001034434]likely benign214341852943418529Human1name
26897948CV822193single nucleotide variantNM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)Developmental and epileptic encephalopathy, 30 [RCV001034368]likely benign|conflicting interpretations of pathogenicity214341854143418541Human1name
26897163CV822194single nucleotide variantNM_173354.5(SIK1):c.1462T>G (p.Cys488Gly)Developmental and epileptic encephalopathy, 30 [RCV001034018]likely benign214341902143419021Human1name
26897493CV822195single nucleotide variantNM_173354.5(SIK1):c.1424C>T (p.Ala475Val)Developmental and epileptic encephalopathy, 30 [RCV001034175]likely benign214341905943419059Human1name
26897328CV822196single nucleotide variantNM_173354.5(SIK1):c.1300G>A (p.Val434Met)Developmental and epileptic encephalopathy, 30 [RCV001034092]|Inborn genetic diseases [RCV002382262]likely benign214341918343419183Human2name
26898267CV822197single nucleotide variantNM_173354.5(SIK1):c.1144G>A (p.Asp382Asn)Developmental and epileptic encephalopathy, 30 [RCV001034469]likely benign214341945443419454Human1name
26897071CV822198single nucleotide variantNM_173354.5(SIK1):c.1088G>A (p.Arg363Gln)Developmental and epileptic encephalopathy, 30 [RCV001033973]|Inborn genetic diseases [RCV002552047]|not provided [RCV001287960]likely benign|uncertain significance214341989043419890Human2name
26898116CV822199single nucleotide variantNM_173354.5(SIK1):c.1060G>A (p.Ala354Thr)Developmental and epileptic encephalopathy, 30 [RCV001034421]benign214341991843419918Human1name
26921990CV848822single nucleotide variantNM_173354.5(SIK1):c.2272C>T (p.Pro758Ser)Developmental and epileptic encephalopathy, 30 [RCV001061491]uncertain significance214341682243416822Human1name
26915523CV848823single nucleotide variantNM_173354.5(SIK1):c.2218G>A (p.Ala740Thr)Developmental and epileptic encephalopathy, 30 [RCV001055769]benign|uncertain significance214341687643416876Human1name
26906018CV848824single nucleotide variantNM_173354.5(SIK1):c.2161G>T (p.Val721Leu)Developmental and epileptic encephalopathy, 30 [RCV001051514]uncertain significance214341693343416933Human1name
26917698CV848825single nucleotide variantNM_173354.5(SIK1):c.2000C>T (p.Pro667Leu)Developmental and epileptic encephalopathy, 30 [RCV001042815]|not provided [RCV004693491]uncertain significance214341709443417094Human1name
26897469CV848826single nucleotide variantNM_173354.5(SIK1):c.1989A>C (p.Leu663Phe)Developmental and epileptic encephalopathy, 30 [RCV001048558]|Inborn genetic diseases [RCV004031515]uncertain significance214341710543417105Human2name
26898784CV848827single nucleotide variantNM_173354.5(SIK1):c.1888G>A (p.Ala630Thr)Developmental and epileptic encephalopathy, 30 [RCV001049016]uncertain significance214341763143417631Human1name
26886061CV848828single nucleotide variantNM_173354.5(SIK1):c.1832A>G (p.Gln611Arg)Developmental and epileptic encephalopathy, 30 [RCV001043950]benign|uncertain significance214341768743417687Human1name
26922007CV848829single nucleotide variantNM_173354.5(SIK1):c.1594G>A (p.Ala532Thr)Developmental and epileptic encephalopathy, 30 [RCV001061501]likely benign|uncertain significance214341841043418410Human1name
26913010CV848830single nucleotide variantNM_173354.5(SIK1):c.1552G>C (p.Ala518Pro)Developmental and epileptic encephalopathy, 30 [RCV001039763]|Inborn genetic diseases [RCV002391113]|not provided [RCV001171964]likely benign|uncertain significance214341845243418452Human2name
26914176CV848831single nucleotide variantNM_173354.5(SIK1):c.1552G>A (p.Ala518Thr)Developmental and epileptic encephalopathy, 30 [RCV001054775]likely benign|uncertain significance214341845243418452Human1name
26900649CV848832single nucleotide variantNM_173354.5(SIK1):c.1487C>T (p.Thr496Met)Developmental and epileptic encephalopathy, 30 [RCV001049620]uncertain significance214341851743418517Human1name
26921793CV848833single nucleotide variantNM_173354.5(SIK1):c.1439G>A (p.Arg480His)Developmental and epileptic encephalopathy, 30 [RCV001061304]|Inborn genetic diseases [RCV005268893]likely benign|uncertain significance214341904443419044Human2name
26917679CV848834single nucleotide variantNM_173354.5(SIK1):c.1424C>G (p.Ala475Gly)Developmental and epileptic encephalopathy, 30 [RCV001057184]uncertain significance214341905943419059Human1name
26912106CV848835single nucleotide variantNM_173354.5(SIK1):c.1415A>T (p.His472Leu)Developmental and epileptic encephalopathy, 30 [RCV001038968]|Inborn genetic diseases [RCV004963008]uncertain significance214341906843419068Human2name
26923624CV848836single nucleotide variantNM_173354.5(SIK1):c.1388C>G (p.Ser463Cys)Developmental and epileptic encephalopathy, 30 [RCV001064332]|Inborn genetic diseases [RCV004960414]uncertain significance214341909543419095Human2name
26917086CV848837single nucleotide variantNM_173354.5(SIK1):c.1312A>G (p.Ser438Gly)Developmental and epileptic encephalopathy, 30 [RCV001056761]uncertain significance214341917143419171Human1name
26907537CV848838single nucleotide variantNM_173354.5(SIK1):c.1294C>T (p.Arg432Trp)Developmental and epileptic encephalopathy, 30 [RCV001052270]|Inborn genetic diseases [RCV002379555]|not provided [RCV001532455]likely benign|uncertain significance214341918943419189Human2name
26914996CV848839single nucleotide variantNM_173354.5(SIK1):c.1218C>G (p.Asp406Glu)Developmental and epileptic encephalopathy, 30 [RCV001055367]uncertain significance214341938043419380Human1name
26912152CV848840single nucleotide variantNM_173354.5(SIK1):c.1172C>T (p.Pro391Leu)Developmental and epileptic encephalopathy, 30 [RCV001039028]|Inborn genetic diseases [RCV002551434]likely benign|uncertain significance214341942643419426Human2name
26886375CV848841single nucleotide variantNM_173354.5(SIK1):c.1105C>T (p.Leu369Phe)Developmental and epileptic encephalopathy, 30 [RCV001044185]|Inborn genetic diseases [RCV002552546]uncertain significance214341987343419873Human2name
38459911CV919937single nucleotide variantNM_173354.5(SIK1):c.1430T>G (p.Val477Gly)Developmental and epileptic encephalopathy, 30 [RCV001196198]|not provided [RCV002275303]uncertain significance214341905343419053Human1name
38481532CV929332single nucleotide variantNM_173354.5(SIK1):c.2153C>T (p.Ala718Val)Developmental and epileptic encephalopathy, 30 [RCV001218048]uncertain significance214341694143416941Human1name
38487084CV929333single nucleotide variantNM_173354.5(SIK1):c.2120C>T (p.Pro707Leu)Developmental and epileptic encephalopathy, 30 [RCV001220600]|not specified [RCV003226445]uncertain significance214341697443416974Human1name
38485530CV929334single nucleotide variantNM_173354.5(SIK1):c.2052T>A (p.Phe684Leu)Developmental and epileptic encephalopathy, 30 [RCV001219898]uncertain significance214341704243417042Human1name
38488769CV929335single nucleotide variantNM_173354.5(SIK1):c.1927G>A (p.Gly643Ser)Developmental and epileptic encephalopathy, 30 [RCV001221397]|not provided [RCV001311574]likely benign|uncertain significance214341759243417592Human1name
38482553CV929336single nucleotide variantNM_173354.5(SIK1):c.1856G>A (p.Arg619Gln)Developmental and epileptic encephalopathy, 30 [RCV001218516]|Inborn genetic diseases [RCV002562456]likely benign|uncertain significance214341766343417663Human2name
38485693CV929337single nucleotide variantNM_173354.5(SIK1):c.1619C>T (p.Ser540Leu)Developmental and epileptic encephalopathy, 30 [RCV001219908]|Inborn genetic diseases [RCV002402658]likely benign|uncertain significance214341838543418385Human2name
38484592CV929338single nucleotide variantNM_173354.5(SIK1):c.1205A>C (p.Gln402Pro)Developmental and epileptic encephalopathy, 30 [RCV001219497]uncertain significance214341939343419393Human1name
38481826CV929339single nucleotide variantNM_173354.5(SIK1):c.1178C>T (p.Pro393Leu)Developmental and epileptic encephalopathy, 30 [RCV001218183]uncertain significance214341942043419420Human1name
38493735CV929340single nucleotide variantNM_173354.5(SIK1):c.1139C>G (p.Ser380Cys)Developmental and epileptic encephalopathy, 30 [RCV001224479]uncertain significance214341945943419459Human1name
38476050CV929341single nucleotide variantNM_173354.5(SIK1):c.1093C>T (p.Arg365Trp)Developmental and epileptic encephalopathy, 30 [RCV001215464]uncertain significance214341988543419885Human1name
38488481CV939124single nucleotide variantNM_173354.5(SIK1):c.2305G>A (p.Glu769Lys)Developmental and epileptic encephalopathy, 30 [RCV001209770]likely benign|uncertain significance214341678943416789Human1name
38471390CV939126single nucleotide variantNM_173354.5(SIK1):c.2012C>T (p.Pro671Leu)Developmental and epileptic encephalopathy, 30 [RCV001202826]|Inborn genetic diseases [RCV004671247]uncertain significance214341708243417082Human2name
38472525CV939127single nucleotide variantNM_173354.5(SIK1):c.1932C>G (p.Ser644Arg)Developmental and epileptic encephalopathy, 30 [RCV001203202]|Inborn genetic diseases [RCV004963180]uncertain significance214341758743417587Human2name
38473460CV939128single nucleotide variantNM_173354.5(SIK1):c.1921G>T (p.Ala641Ser)Developmental and epileptic encephalopathy, 30 [RCV001203465]|not provided [RCV003326551]likely benign|uncertain significance214341759843417598Human1name
38482711CV939129single nucleotide variantNM_173354.5(SIK1):c.1849G>A (p.Ala617Thr)Developmental and epileptic encephalopathy, 30 [RCV001207379]|Inborn genetic diseases [RCV005278759]likely benign|uncertain significance214341767043417670Human2name
38476990CV939130single nucleotide variantNM_173354.5(SIK1):c.1833G>T (p.Gln611His)Developmental and epileptic encephalopathy, 30 [RCV001204891]uncertain significance214341768643417686Human1name
38483959CV939131single nucleotide variantNM_173354.5(SIK1):c.1538C>G (p.Ala513Gly)Developmental and epileptic encephalopathy, 30 [RCV001207846]uncertain significance214341846643418466Human1name
38468235CV939132single nucleotide variantNM_173354.5(SIK1):c.1373A>G (p.Gln458Arg)Developmental and epileptic encephalopathy, 30 [RCV001213103]uncertain significance214341911043419110Human1name
38474666CV951244single nucleotide variantNM_173354.5(SIK1):c.1538C>A (p.Ala513Glu)Developmental and epileptic encephalopathy, 30 [RCV001232312]uncertain significance214341846643418466Human1name
38487150CV951245single nucleotide variantNM_173354.5(SIK1):c.1535C>T (p.Ser512Phe)Developmental and epileptic encephalopathy, 30 [RCV001237453]uncertain significance214341846943418469Human1name
38479181CV951246duplicationNM_173354.5(SIK1):c.1515dup (p.Asp506Ter)Developmental and epileptic encephalopathy, 30 [RCV001234176]uncertain significance214341848843418489Human1name
38498733CV951247single nucleotide variantNM_173354.5(SIK1):c.1505G>A (p.Gly502Glu)Developmental and epileptic encephalopathy, 30 [RCV001227940]|Inborn genetic diseases [RCV002393559]|not provided [RCV003332309]uncertain significance214341849943418499Human2name
38462713CV951248single nucleotide variantNM_173354.5(SIK1):c.1198G>A (p.Val400Ile)Developmental and epileptic encephalopathy, 30 [RCV001229749]uncertain significance214341940043419400Human1name
38477823CV951249single nucleotide variantNM_173354.5(SIK1):c.1152C>G (p.Phe384Leu)Developmental and epileptic encephalopathy, 30 [RCV001233643]uncertain significance214341944643419446Human1name
38495888CV951250single nucleotide variantNM_173354.5(SIK1):c.1147C>G (p.Pro383Ala)Developmental and epileptic encephalopathy, 30 [RCV001226028]|Inborn genetic diseases [RCV004960585]likely benign|uncertain significance214341945143419451Human2name
38462688CV958967single nucleotide variantNM_173354.5(SIK1):c.1885C>T (p.His629Tyr)Developmental and epileptic encephalopathy, 30 [RCV001247179]uncertain significance214341763443417634Human1name
38499788CV958968single nucleotide variantNM_173354.5(SIK1):c.1834G>A (p.Val612Met)Developmental and epileptic encephalopathy, 30 [RCV001245082]uncertain significance214341768543417685Human1name
38469834CV958969single nucleotide variantNM_173354.5(SIK1):c.1781C>T (p.Thr594Met)Developmental and epileptic encephalopathy, 30 [RCV001248297]|Inborn genetic diseases [RCV002411913]uncertain significance214341773843417738Human2name
40886806CV974218single nucleotide variantNM_173354.5(SIK1):c.1063C>T (p.Arg355Cys)Developmental and epileptic encephalopathy, 30 [RCV002537683]|Inborn genetic diseases [RCV001266053]uncertain significance214341991543419915Human2name
126733167CV999222single nucleotide variantNM_173354.5(SIK1):c.2179C>T (p.Leu727Phe)Developmental and epileptic encephalopathy, 30 [RCV001304220]uncertain significance214341691543416915Human1name
126761408CV999223single nucleotide variantNM_173354.5(SIK1):c.2165C>A (p.Ala722Asp)Developmental and epileptic encephalopathy, 30 [RCV001300081]uncertain significance214341692943416929Human1name
126736609CV999224single nucleotide variantNM_173354.5(SIK1):c.1999C>A (p.Pro667Thr)Developmental and epileptic encephalopathy, 30 [RCV001295243]uncertain significance214341709543417095Human1name
126743378CV999225single nucleotide variantNM_173354.5(SIK1):c.1988T>C (p.Leu663Ser)Developmental and epileptic encephalopathy, 30 [RCV001296179]uncertain significance214341710643417106Human1name
126745326CV999226single nucleotide variantNM_173354.5(SIK1):c.1877G>T (p.Ser626Ile)Developmental and epileptic encephalopathy, 30 [RCV001305968]uncertain significance214341764243417642Human1name
126735188CV999227single nucleotide variantNM_173354.5(SIK1):c.1693C>T (p.Pro565Ser)Developmental and epileptic encephalopathy, 30 [RCV001295041]uncertain significance214341831143418311Human1name
126727416CV999228single nucleotide variantNM_173354.5(SIK1):c.1283T>G (p.Val428Gly)Developmental and epileptic encephalopathy, 30 [RCV001303148]uncertain significance214341920043419200Human1name
126734084CV999229single nucleotide variantNM_173354.5(SIK1):c.1231A>G (p.Ser411Gly)Developmental and epileptic encephalopathy, 30 [RCV001304377]uncertain significance214341936743419367Human1name