Send us a Message



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


650 records found for search term Scn1b
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150453301CV1203773single nucleotide variantNM_001037.5(SCN1B):c.*8C>TGeneralized epilepsy with febrile seizures plus, type 1 [RCV001591729]uncertain significance193503979935039799Human1name
8692738CV142705single nucleotide variantNM_001037.5(SCN1B):c.-9C>ABrugada syndrome 5 [RCV000406321]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000353678]|not provided [RCV000587500]|not specified [RCV000127910]benign|likely benign|conflicting interpretations of pathogenicity193503081235030812Human2name
405701755CV3392221single nucleotide variantNM_001037.5(SCN1B):c.-1C>ACardiovascular phenotype [RCV004521100]uncertain significance193503082035030820Humanname
12741250CV360389single nucleotide variantNM_001037.5(SCN1B):c.-1C>TCardiovascular phenotype [RCV002418238]|not specified [RCV000414531]uncertain significance193503082035030820Humanname
150439741CV1265010deletionNM_001037.5(SCN1B):c.*57delnot provided [RCV001679003]benign193503984835039848Humanname
8692737CV142704single nucleotide variantNM_001037.5(SCN1B):c.-40C>Gnot specified [RCV000127909]benign193503078135030781Humanname
10044929CV188673single nucleotide variantNM_001037.5(SCN1B):c.-27G>Tnot specified [RCV000171030]likely benign193503079435030794Humanname
11551318CV256856single nucleotide variantNM_001037.5(SCN1B):c.5+7C>TBrugada syndrome 5 [RCV001126912]|Cardiovascular phenotype [RCV002429184]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001126911]|not provided [RCV001689813]|not specified [RCV000252884]benign|likely benign|uncertain significance193503971335039713Human2name
11612757CV333131single nucleotide variantNM_001037.5(SCN1B):c.-95C>TBrugada syndrome 5 [RCV000319533]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000262097]|not provided [RCV004703776]benign|likely benign193503072635030726Human2name
11656272CV348589single nucleotide variantNM_001037.5(SCN1B):c.-93G>CBrugada syndrome 5 [RCV000332041]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000385720]uncertain significance193503072835030728Human2name
11649535CV349668single nucleotide variantNM_001037.5(SCN1B):c.-88A>CBrugada syndrome 5 [RCV000388798]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000287506]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002480163]uncertain significance193503073335030733Human2name
11627909CV349669single nucleotide variantNM_001037.5(SCN1B):c.-27G>CBrugada syndrome 5 [RCV000403901]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000291182]|not provided [RCV001643023]benign|likely benign193503079435030794Human2name
12845758CV377401single nucleotide variantNM_001037.5(SCN1B):c.*23A>Gnot specified [RCV000440389]likely benign193503981435039814Humanname
12833056CV377573single nucleotide variantNM_001037.5(SCN1B):c.-26G>Cnot specified [RCV000417781]likely benign193503079535030795Humanname
12848390CV377593single nucleotide variantNM_001037.5(SCN1B):c.*17C>Tnot specified [RCV000445197]likely benign193503980835039808Humanname
13487124CV446083single nucleotide variantNM_001037.5(SCN1B):c.*13G>ADevelopmental and epileptic encephalopathy, 52 [RCV001329521]|not specified [RCV000523129]uncertain significance193503980435039804Human1name
13529863CV507244single nucleotide variantNM_001037.5(SCN1B):c.-41C>Gnot specified [RCV000605892]likely benign193503078035030780Humanname
13530838CV507247single nucleotide variantNM_001037.5(SCN1B):c.-31G>ABrugada syndrome 5 [RCV001126812]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001126813]|not specified [RCV000600850]likely benign|uncertain significance193503079035030790Human2name
13836424CV587697single nucleotide variantNM_001037.5(SCN1B):c.*76G>TBrugada syndrome 5 [RCV001127329]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127330]|not provided [RCV004717714]|not specified [RCV000732539]benign193503986735039867Human2name
28899904CV880289single nucleotide variantNM_001037.5(SCN1B):c.-72G>ABrugada syndrome 5 [RCV001124138]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001126811]uncertain significance193503074935030749Human2name
28906190CV880292single nucleotide variantNM_001037.5(SCN1B):c.*42T>CBrugada syndrome 5 [RCV001126916]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001126915]|not provided [RCV001655683]benign193503983335039833Human2name
28906193CV880293single nucleotide variantNM_001037.5(SCN1B):c.*50C>TBrugada syndrome 5 [RCV001126918]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001126917]uncertain significance193503984135039841Human2name
28906993CV880294single nucleotide variantNM_001037.5(SCN1B):c.*86A>CBrugada syndrome 5 [RCV001127331]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127332]|not provided [RCV001692352]benign193503987735039877Human2name
127334141CV1127753single nucleotide variantNM_001037.5(SCN1B):c.41-7C>TBrugada syndrome 5 [RCV001473411]likely benign193503252135032521Human1name
127307535CV1148696single nucleotide variantNM_001037.5(SCN1B):c.41-8C>TBrugada syndrome 5 [RCV001500508]likely benign193503252035032520Human1name
150420159CV1181727single nucleotide variantNM_001037.5(SCN1B):c.-265G>Anot provided [RCV001551408]likely benign193503055635030556Humanname
8692739CV142706single nucleotide variantNM_001037.5(SCN1B):c.40+6T>Cnot specified [RCV000127911]benign193503086635030866Humanname
152037633CV1669148single nucleotide variantNM_001037.5(SCN1B):c.41-1G>Tnot provided [RCV002224200]likely pathogenic193503252735032527Humanname
156323655CV2072141single nucleotide variantNM_001037.5(SCN1B):c.40+6T>GBrugada syndrome 5 [RCV002834871]uncertain significance193503086635030866Human1name
156341868CV2127606single nucleotide variantNM_001037.5(SCN1B):c.41-5C>TBrugada syndrome 5 [RCV002938942]likely benign193503252335032523Human1name
402513888CV2921847duplicationNM_001037.5(SCN1B):c.41-4dupBrugada syndrome 5 [RCV003510139]likely benign193503252335032524Human1name
11654288CV333128single nucleotide variantNM_001037.5(SCN1B):c.-132C>GBrugada syndrome 5 [RCV000360270]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000316181]uncertain significance193503068935030689Human2name
597921211CV3850816single nucleotide variantNM_001037.5(SCN1B):c.41-6C>GBrugada syndrome 5 [RCV005195949]likely benign193503252235032522Human1name
597931462CV3863442single nucleotide variantNM_001037.5(SCN1B):c.40+1G>Anot provided [RCV005205767]pathogenic193503086135030861Humanname
12898594CV410565single nucleotide variantNM_001037.5(SCN1B):c.41-3C>TCardiovascular phenotype [RCV004023212]|not provided [RCV000478260]uncertain significance193503252535032525Humanname
13538129CV506615single nucleotide variantNM_001037.5(SCN1B):c.6-19C>Gnot specified [RCV000611379]likely benign193503977835039778Humanname
14729290CV668724single nucleotide variantNM_001037.5(SCN1B):c.-226C>Tnot provided [RCV000835151]likely benign193503059535030595Humanname
14741833CV668726single nucleotide variantNM_001037.5(SCN1B):c.40+9G>Anot provided [RCV000840967]likely benign193503086935030869Humanname
15104904CV776576single nucleotide variantNM_001037.5(SCN1B):c.40+8C>TBrugada syndrome 5 [RCV001430570]likely benign193503086835030868Human1name
15138027CV788316single nucleotide variantNM_001037.5(SCN1B):c.40+7G>TBrugada syndrome 5 [RCV001487202]likely benign193503086735030867Human1name
21404322CV802062single nucleotide variantNM_001037.5(SCN1B):c.40+2T>GGeneralized epilepsy with febrile seizures plus, type 1 [RCV001004687]uncertain significance193503086235030862Human1name
28897068CV880288single nucleotide variantNM_001037.5(SCN1B):c.-123A>TBrugada syndrome 5 [RCV001123066]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124137]uncertain significance193503069835030698Human2name
28906997CV880295single nucleotide variantNM_001037.5(SCN1B):c.*102A>TBrugada syndrome 5 [RCV001127334]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127333]benign|likely benign193503989335039893Human2name
28906999CV880296single nucleotide variantNM_001037.5(SCN1B):c.*202C>TBrugada syndrome 5 [RCV001127336]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127335]benign|likely benign193503999335039993Human2name
28897572CV880297single nucleotide variantNM_001037.5(SCN1B):c.*305C>TBrugada syndrome 5 [RCV001123249]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001123250]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002482233]uncertain significance193504009635040096Human2name
28897577CV880298single nucleotide variantNM_001037.5(SCN1B):c.*377C>TBrugada syndrome 5 [RCV001123252]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001123251]benign|uncertain significance193504016835040168Human2name
28897580CV880299single nucleotide variantNM_001037.5(SCN1B):c.*378G>ABrugada syndrome 5 [RCV001123254]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001123253]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002505698]uncertain significance193504016935040169Human2name
28897582CV880300single nucleotide variantNM_001037.5(SCN1B):c.*401G>ABrugada syndrome 5 [RCV001123256]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001123255]|not provided [RCV001785783]benign|likely benign193504019235040192Human2name
28900429CV880301single nucleotide variantNM_001037.5(SCN1B):c.*447A>GBrugada syndrome 5 [RCV001124350]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124351]benign|likely benign193504023835040238Human2name
28900436CV880302single nucleotide variantNM_001037.5(SCN1B):c.*454C>ABrugada syndrome 5 [RCV001124352]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124353]benign|likely benign193504024535040245Human2name
28900440CV880303single nucleotide variantNM_001037.5(SCN1B):c.*464C>GBrugada syndrome 5 [RCV001124354]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124355]uncertain significance193504025535040255Human2name
28900445CV880304single nucleotide variantNM_001037.5(SCN1B):c.*486C>TBrugada syndrome 5 [RCV001124357]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124356]uncertain significance193504027735040277Human2name
28906354CV880305single nucleotide variantNM_001037.5(SCN1B):c.*527T>CBrugada syndrome 5 [RCV001127007]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127006]|not provided [RCV001619889]benign|likely benign193504031835040318Human2name
28906356CV880306single nucleotide variantNM_001037.5(SCN1B):c.*534C>TBrugada syndrome 5 [RCV001127009]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127008]benign|likely benign193504032535040325Human2name
28906360CV880307single nucleotide variantNM_001037.5(SCN1B):c.*553C>TBrugada syndrome 5 [RCV001127010]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001127011]uncertain significance193504034435040344Human2name
150437176CV1237823single nucleotide variantNM_001037.5(SCN1B):c.*5+31G>Anot provided [RCV001644321]benign193503973735039737Humanname
151774635CV1361934single nucleotide variantNM_001037.5(SCN1B):c.591-2A>GBrugada syndrome 5 [RCV001950492]uncertain significance193503963335039633Human1name
151752693CV1363594single nucleotide variantNM_001037.5(SCN1B):c.591-3C>TBrugada syndrome 5 [RCV001872422]uncertain significance193503963235039632Human1name
151868244CV1419087single nucleotide variantNM_001037.5(SCN1B):c.449-3C>TBrugada syndrome 5 [RCV001960095]uncertain significance193503911435039114Human1name
8692725CV142692single nucleotide variantNM_001037.5(SCN1B):c.207+7G>ABrugada syndrome 5 [RCV001427752]|not specified [RCV000127896]benign|likely benign193503270135032701Human1name
8692732CV142699single nucleotide variantNM_001037.5(SCN1B):c.448+8G>CBrugada syndrome 5 [RCV001083585]|not specified [RCV000127903]benign|likely benign193503374735033747Human1name
152159823CV1544477deletionNM_001037.5(SCN1B):c.591-5delBrugada syndrome 5 [RCV002122987]benign193503962635039626Human1name
152102750CV1571707deletionNM_001037.5(SCN1B):c.41-12delBrugada syndrome 5 [RCV002173314]likely benign193503251635032516Human1name
156383126CV1870515single nucleotide variantNM_001037.5(SCN1B):c.449-1G>TBrugada syndrome 5 [RCV003067340]likely pathogenic|uncertain significance193503911635039116Human1name
10044687CV188699single nucleotide variantNM_001037.5(SCN1B):c.449-9C>ABrugada syndrome 5 [RCV002515233]|not specified [RCV000171031]likely benign|uncertain significance193503910835039108Human1name
10044698CV188700single nucleotide variantNM_001037.5(SCN1B):c.449-1G>Anot provided [RCV000171051]pathogenic193503911635039116Humanname
156346531CV1892911single nucleotide variantNM_001037.5(SCN1B):c.448+8G>TBrugada syndrome 5 [RCV003090666]likely benign193503374735033747Human1name
155950114CV2046639single nucleotide variantNM_001037.5(SCN1B):c.40+11G>CBrugada syndrome 5 [RCV002775726]likely benign193503087135030871Human1name
155954701CV2069711single nucleotide variantNM_001037.5(SCN1B):c.590+3G>TBrugada syndrome 5 [RCV002816455]uncertain significance193503926135039261Human1name
156150831CV2100289single nucleotide variantNM_001037.5(SCN1B):c.40+17C>TBrugada syndrome 5 [RCV002872313]likely benign193503087735030877Human1name
156013428CV2123054deletionNM_001037.5(SCN1B):c.207+9delBrugada syndrome 5 [RCV002975770]likely benign193503270135032701Human1name
8560978CV24292single nucleotide variantNM_001037.5(SCN1B):c.208-2A>CGeneralized epilepsy with febrile seizures plus, type 1 [RCV000009835]pathogenic193503349735033497Human1name
402523247CV2877089deletionNM_001037.5(SCN1B):c.208-4delBrugada syndrome 5 [RCV003511002]|Cardiovascular phenotype [RCV005273723]benign|likely benign193503349235033492Human1name
402504774CV2899744duplicationNM_001037.5(SCN1B):c.591-5dupBrugada syndrome 5 [RCV003509146]uncertain significance193503962535039626Human1name
402516222CV2923724single nucleotide variantNM_001037.5(SCN1B):c.41-19G>ABrugada syndrome 5 [RCV003510406]likely benign193503250935032509Human1name
402515614CV2927087single nucleotide variantNM_001037.5(SCN1B):c.448+1G>ABrugada syndrome 5 [RCV003510353]uncertain significance193503374035033740Human1name
402464614CV2955621single nucleotide variantNM_001037.5(SCN1B):c.449-5T>CBrugada syndrome 5 [RCV003622447]uncertain significance193503911235039112Human1name
402464239CV3077187single nucleotide variantNM_001037.5(SCN1B):c.41-11T>CBrugada syndrome 5 [RCV003622346]likely benign193503251735032517Human1name
402497913CV3179378single nucleotide variantNM_001037.5(SCN1B):c.591-8C>TBrugada syndrome 5 [RCV003877645]|not provided [RCV005426251]likely benign|uncertain significance193503962735039627Human1name
12840520CV377579single nucleotide variantNM_001037.5(SCN1B):c.448+7C>TBrugada syndrome 5 [RCV001235685]|Cardiovascular phenotype [RCV004984866]|not provided [RCV001718867]likely benign|uncertain significance193503374635033746Human1name
12845931CV377580single nucleotide variantNM_001037.5(SCN1B):c.448+8G>ABrugada syndrome 5 [RCV002061502]|not provided [RCV001718868]likely benign193503374735033747Human1name
597856730CV3788748single nucleotide variantNM_001037.5(SCN1B):c.40+17C>GBrugada syndrome 5 [RCV005131226]likely benign193503087735030877Human1name
12841670CV379524single nucleotide variantNM_001037.5(SCN1B):c.41-14T>CBrugada syndrome 5 [RCV002063448]|not specified [RCV000432988]likely benign193503251435032514Human1name
597861640CV3798098single nucleotide variantNM_001037.5(SCN1B):c.590+8G>CBrugada syndrome 5 [RCV005135878]uncertain significance193503926635039266Human1name
597894880CV3829220duplicationNM_001037.5(SCN1B):c.40+16dupBrugada syndrome 5 [RCV005169669]benign193503087035030871Human1name
597927923CV3851601single nucleotide variantNM_001037.5(SCN1B):c.40+11G>TBrugada syndrome 5 [RCV005202378]likely benign193503087135030871Human1name
13211568CV426298single nucleotide variantNM_001037.5(SCN1B):c.590+1G>ABrugada syndrome 5 [RCV001865570]|not provided [RCV000497626]pathogenic|likely pathogenic|uncertain significance193503925935039259Human1name
13484667CV442194single nucleotide variantNM_001037.5(SCN1B):c.449-3C>ABrugada syndrome 5 [RCV000697998]|Cardiovascular phenotype [RCV002329223]|not provided [RCV001311511]|not specified [RCV000518529]likely benign|conflicting interpretations of pathogenicity|uncertain significance193503911435039114Human1name
13529080CV506611single nucleotide variantNM_001037.5(SCN1B):c.591-5C>TBrugada syndrome 5 [RCV002064381]|not specified [RCV000605626]likely benign193503963035039630Human1name
14712854CV669876single nucleotide variantNM_001037.5(SCN1B):c.40+15G>ABrugada syndrome 5 [RCV003509613]|not provided [RCV000828554]likely benign193503087535030875Human1name
15040285CV682721single nucleotide variantNM_001037.5(SCN1B):c.449-2A>GBrugada syndrome 5 [RCV003509616]|Developmental and epileptic encephalopathy, 52 [RCV000856658]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000984918]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance193503911535039115Human3name
26903558CV847537single nucleotide variantNM_001037.5(SCN1B):c.448+7C>GBrugada syndrome 5 [RCV001036225]uncertain significance193503374635033746Human1name
26921575CV851809single nucleotide variantNM_001037.5(SCN1B):c.207+1G>ABrugada syndrome 5 [RCV001061114]pathogenic|uncertain significance193503269535032695Human1name
28881133CV860540single nucleotide variantNM_001037.5(SCN1B):c.208-1G>Cnot provided [RCV001091067]uncertain significance193503349835033498Humanname
28906185CV880729single nucleotide variantNM_001037.5(SCN1B):c.*6-11C>GBrugada syndrome 5 [RCV001126914]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001126913]|not provided [RCV001673018]benign193503978635039786Human2name
38476400CV940480single nucleotide variantNM_001037.5(SCN1B):c.207+6C>TBrugada syndrome 5 [RCV001204642]uncertain significance193503270035032700Human1name
8640401CV99386single nucleotide variantNM_001037.5(SCN1B):c.40+15G>TBrugada syndrome 5 [RCV000331403]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000274043]|not provided [RCV004716933]|not specified [RCV000079382]benign193503087535030875Human2name
150437470CV1200986single nucleotide variantNM_001037.5(SCN1B):c.590+97C>Tnot provided [RCV001583066]likely benign193503935535039355Humanname
150501725CV1224266single nucleotide variantNM_001037.5(SCN1B):c.207+34A>Cnot provided [RCV001620907]benign193503272835032728Humanname
150468925CV1249010single nucleotide variantNM_001037.5(SCN1B):c.449-25C>Tnot provided [RCV001670771]benign193503909235039092Humanname
150490364CV1251014single nucleotide variantNM_001037.5(SCN1B):c.207+19C>TBrugada syndrome 5 [RCV002032664]|not provided [RCV001674681]benign|likely benign193503271335032713Human1name
150450526CV1274868single nucleotide variantNM_001037.5(SCN1B):c.591-25T>Gnot provided [RCV004718951]|not specified [RCV001702149]benign193503961035039610Humanname
150471852CV1281084single nucleotide variantNM_001037.5(SCN1B):c.208-94T>Gnot provided [RCV001713270]benign193503340535033405Humanname
150505592CV1286230single nucleotide variantNM_001037.5(SCN1B):c.591-22A>Tnot provided [RCV001719655]benign193503961335039613Humanname
151748403CV1367670single nucleotide variantNM_001037.5(SCN1B):c.207+13C>GBrugada syndrome 5 [RCV001894063]likely benign|uncertain significance193503270735032707Human1name
151824866CV1404146single nucleotide variantNM_001037.5(SCN1B):c.448+77C>ABrugada syndrome 5 [RCV001976089]uncertain significance193503381635033816Human1name
8692726CV142693single nucleotide variantNM_001037.5(SCN1B):c.207+14G>ABrugada syndrome 5 [RCV000329508]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000290912]|not provided [RCV004717057]|not specified [RCV000127897]benign|likely benign193503270835032708Human2name
8692727CV142694single nucleotide variantNM_001037.5(SCN1B):c.208-14C>TBrugada syndrome 5 [RCV002055790]|not specified [RCV000127898]benign|likely benign193503348535033485Human1name
8692733CV142700single nucleotide variantNM_001037.5(SCN1B):c.448+29C>TBrugada syndrome 5 [RCV000457379]|not provided [RCV001701764]|not specified [RCV000127904]benign|likely benign193503376835033768Human1name
8692742CV142709single nucleotide variantNM_001037.5(SCN1B):c.590+16G>ABrugada syndrome 5 [RCV002055791]|not provided [RCV004717060]|not specified [RCV000127915]benign193503927435039274Human1name
151819505CV1450042single nucleotide variantNM_001037.5(SCN1B):c.448+90C>TBrugada syndrome 5 [RCV001879077]uncertain significance193503382935033829Human1name
151718550CV1469361single nucleotide variantNM_001037.5(SCN1B):c.448+68G>TBrugada syndrome 5 [RCV002039716]uncertain significance193503380735033807Human1name
151719311CV1497999single nucleotide variantNM_001037.5(SCN1B):c.449-14C>TBrugada syndrome 5 [RCV001965719]likely benign193503910335039103Human1name
152141068CV1571405single nucleotide variantNM_001037.5(SCN1B):c.449-17C>TBrugada syndrome 5 [RCV002138182]likely benign193503910035039100Human1name
152066605CV1636570single nucleotide variantNM_001037.5(SCN1B):c.207+16G>ABrugada syndrome 5 [RCV002110876]likely benign193503271035032710Human1name
152062874CV1663809single nucleotide variantNM_001037.5(SCN1B):c.448+77C>TBrugada syndrome 5 [RCV002073890]likely benign193503381635033816Human1name
156357925CV1877715single nucleotide variantNM_001037.5(SCN1B):c.208-18C>GBrugada syndrome 5 [RCV003065394]likely benign193503348135033481Human1name
156017746CV1885400single nucleotide variantNM_001037.5(SCN1B):c.591-16G>CBrugada syndrome 5 [RCV003077457]uncertain significance193503961935039619Human1name
10044934CV188689single nucleotide variantNM_001037.5(SCN1B):c.448+45G>ABrugada syndrome 5 [RCV000702088]|not provided [RCV000171043]uncertain significance193503378435033784Human1name
156059251CV1892258single nucleotide variantNM_001037.5(SCN1B):c.448+82C>TBrugada syndrome 5 [RCV003079163]uncertain significance193503382135033821Human1name
156351405CV1926670single nucleotide variantNM_001037.5(SCN1B):c.448+97C>TBrugada syndrome 5 [RCV002650916]uncertain significance193503383635033836Human1name
156434956CV1940274single nucleotide variantNM_001037.5(SCN1B):c.448+25T>CBrugada syndrome 5 [RCV003104687]uncertain significance193503376435033764Human1name
156000734CV2092203single nucleotide variantNM_001037.5(SCN1B):c.448+50A>TBrugada syndrome 5 [RCV002908617]uncertain significance193503378935033789Human1name
156310789CV2164061single nucleotide variantNM_001037.5(SCN1B):c.448+39C>ABrugada syndrome 5 [RCV003046018]likely benign193503377835033778Human1name
156115535CV2173927deletionNM_001037.5(SCN1B):c.448+10delBrugada syndrome 5 [RCV003055259]pathogenic|uncertain significance193503374735033747Human1name
156342987CV2186036single nucleotide variantNM_001037.5(SCN1B):c.448+67A>GBrugada syndrome 5 [RCV003047845]uncertain significance193503380635033806Human1name
8598229CV24293single nucleotide variantNM_001037.5(SCN1B):c.448+88G>AAtrial fibrillation, familial, 13 [RCV004786250]|Brugada syndrome 5 [RCV000009836]|not provided [RCV000171062]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance193503382735033827Human2name
8598231CV24295single nucleotide variantNM_001037.5(SCN1B):c.448+89G>AConduction system disorder [RCV000009838]pathogenic193503382835033828Human1name
11544857CV256855single nucleotide variantNM_001037.5(SCN1B):c.591-14C>ABrugada syndrome 5 [RCV001124239]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124238]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002500875]|not provided [RCV001696190]|not specified [RCV000244355]benign|likely benign193503962135039621Human2name
404980012CV2892692single nucleotide variantNM_001037.5(SCN1B):c.207+20G>CBrugada syndrome 5 [RCV003511252]likely benign193503271435032714Human1name
402468325CV3018778single nucleotide variantNM_001037.5(SCN1B):c.448+41G>ABrugada syndrome 5 [RCV003623412]likely benign193503378035033780Human1name
402468524CV3023238single nucleotide variantNM_001037.5(SCN1B):c.448+71A>GBrugada syndrome 5 [RCV003623464]likely benign193503381035033810Human1name
402464136CV3071436single nucleotide variantNM_001037.5(SCN1B):c.448+36C>TBrugada syndrome 5 [RCV003622313]uncertain significance193503377535033775Human1name
402464199CV3076877single nucleotide variantNM_001037.5(SCN1B):c.448+55G>CBrugada syndrome 5 [RCV003622332]uncertain significance193503379435033794Human1name
405161080CV3125089single nucleotide variantNM_001037.5(SCN1B):c.207+14G>CBrugada syndrome 5 [RCV003818360]likely benign193503270835032708Human1name
405085521CV3167305single nucleotide variantNM_001037.5(SCN1B):c.448+17C>TBrugada syndrome 5 [RCV003851886]likely benign193503375635033756Human1name
405254203CV3175031single nucleotide variantNM_001037.5(SCN1B):c.207+20G>ABrugada syndrome 5 [RCV003871483]likely benign193503271435032714Human1name
405691800CV3227537single nucleotide variantNM_001037.5(SCN1B):c.448+63T>CDevelopmental and epileptic encephalopathy, 52 [RCV003991882]uncertain significance193503380235033802Human1name
12842431CV376391single nucleotide variantNM_001037.5(SCN1B):c.207+10T>CBrugada syndrome 5 [RCV002522478]|not specified [RCV000434402]likely benign193503270435032704Human1name
12836542CV377386single nucleotide variantNM_001037.5(SCN1B):c.207+13C>TBrugada syndrome 5 [RCV002059698]|not specified [RCV000423575]benign|likely benign193503270735032707Human1name
12833179CV377398single nucleotide variantNM_001037.5(SCN1B):c.448+30G>ABrugada syndrome 5 [RCV001324557]|not specified [RCV000418030]likely benign|uncertain significance193503376935033769Human1name
12844129CV377588single nucleotide variantNM_001037.5(SCN1B):c.449-10G>ABrugada syndrome 5 [RCV002522676]|not provided [RCV001721469]likely benign|uncertain significance193503910735039107Human1name
597867497CV3790182single nucleotide variantNM_001037.5(SCN1B):c.448+51T>CBrugada syndrome 5 [RCV005142605]uncertain significance193503379035033790Human1name
597862937CV3796214single nucleotide variantNM_001037.5(SCN1B):c.207+11G>TBrugada syndrome 5 [RCV005137031]likely benign193503270535032705Human1name
597877600CV3796638single nucleotide variantNM_001037.5(SCN1B):c.448+11T>CBrugada syndrome 5 [RCV005152720]likely benign193503375035033750Human1name
597863302CV3796815single nucleotide variantNM_001037.5(SCN1B):c.448+44A>GBrugada syndrome 5 [RCV005137713]likely benign193503378335033783Human1name
597904309CV3842313single nucleotide variantNM_001037.5(SCN1B):c.448+56G>ABrugada syndrome 5 [RCV005178948]likely benign193503379535033795Human1name
12886618CV403692single nucleotide variantNM_001037.5(SCN1B):c.448+92C>GBrugada syndrome 5 [RCV001434457]likely benign193503383135033831Human1name
12884289CV403733single nucleotide variantNM_001037.5(SCN1B):c.448+40G>ABrugada syndrome 5 [RCV000463174]|not provided [RCV000996830]uncertain significance193503377935033779Human1name
13446103CV438099single nucleotide variantNM_001037.5(SCN1B):c.448+10G>CBrugada syndrome 5 [RCV002527410]|not provided [RCV000513278]uncertain significance193503374935033749Human1name
13466016CV468632single nucleotide variantNM_001037.5(SCN1B):c.448+61G>TBrugada syndrome 5 [RCV000549414]uncertain significance193503380035033800Human1name
13497448CV468634single nucleotide variantNM_001037.5(SCN1B):c.448+92C>ABrugada syndrome 5 [RCV000524697]likely benign193503383135033831Human1name
13532298CV506598single nucleotide variantNM_001037.5(SCN1B):c.207+19C>ABrugada syndrome 5 [RCV002528737]|not specified [RCV000601315]likely benign193503271335032713Human1name
14705082CV647937single nucleotide variantNM_001037.5(SCN1B):c.448+39C>TBrugada syndrome 5 [RCV000807994]|not provided [RCV001574966]uncertain significance193503377835033778Human1name
14746016CV669637single nucleotide variantNM_001037.5(SCN1B):c.41-313T>Anot provided [RCV000843991]benign193503221535032215Humanname
14729550CV669878single nucleotide variantNM_001037.5(SCN1B):c.207+55G>Anot provided [RCV000835272]likely benign193503274935032749Humanname
14733078CV670176single nucleotide variantNM_001037.5(SCN1B):c.41-239T>Gnot provided [RCV000836936]benign193503228935032289Humanname
15156228CV688995single nucleotide variantNM_001037.5(SCN1B):c.448+48A>CBrugada syndrome 5 [RCV001402724]|SCN1B-related disorder [RCV004538267]|not provided [RCV000868191]benign|likely benign193503378735033787Human1name , trait , alternate_id
38483354CV938648single nucleotide variantNM_001037.5(SCN1B):c.448+18T>CBrugada syndrome 5 [RCV001207612]uncertain significance193503375735033757Human1name
40814723CV971125single nucleotide variantNM_001037.5(SCN1B):c.448+85G>TBrugada syndrome 5 [RCV001262231]uncertain significance193503382435033824Human1name
126772674CV1013671single nucleotide variantNM_001037.5(SCN1B):c.448+238G>CBrugada syndrome 5 [RCV001323895]uncertain significance193503397735033977Human1name
126913409CV1051218single nucleotide variantNM_001037.5(SCN1B):c.448+106C>ABrugada syndrome 5 [RCV001370093]uncertain significance193503384535033845Human1name
126917937CV1051219single nucleotide variantNM_001037.5(SCN1B):c.448+114C>GBrugada syndrome 5 [RCV001372365]|not provided [RCV002292633]likely benign|uncertain significance193503385335033853Human1name
127297982CV1148699single nucleotide variantNM_001037.5(SCN1B):c.448+140G>ABrugada syndrome 5 [RCV001497902]|not provided [RCV001820207]likely benign193503387935033879Human1name
127326382CV1148700single nucleotide variantNM_001037.5(SCN1B):c.448+161C>ABrugada syndrome 5 [RCV001506273]|not provided [RCV002511092]likely benign193503390035033900Human1name
127323204CV1148701single nucleotide variantNM_001037.5(SCN1B):c.448+164G>ABrugada syndrome 5 [RCV001505349]likely benign193503390335033903Human1name
127289555CV1148702single nucleotide variantNM_001037.5(SCN1B):c.448+236C>TBrugada syndrome 5 [RCV001495668]likely benign193503397535033975Human1name
150331785CV1163659single nucleotide variantNM_001037.5(SCN1B):c.208-189G>Anot provided [RCV001527944]benign193503331035033310Humanname
150418699CV1195382single nucleotide variantNM_001037.5(SCN1B):c.207+263G>Anot provided [RCV001569337]likely benign193503295735032957Humanname
150414932CV1199097single nucleotide variantNM_001037.5(SCN1B):c.208-284C>Tnot provided [RCV001575177]likely benign193503321535033215Humanname
150446909CV1201797single nucleotide variantNM_001037.5(SCN1B):c.208-159G>Anot provided [RCV001584665]likely benign193503334035033340Humanname
150494613CV1204862single nucleotide variantNM_001037.5(SCN1B):c.448+559C>Tnot provided [RCV001593354]likely benign193503429835034298Humanname
150496460CV1206088single nucleotide variantNM_001037.5(SCN1B):c.448+231G>ABrugada syndrome 5 [RCV002579455]|not provided [RCV001593770]uncertain significance193503397035033970Human1name
150512315CV1212965single nucleotide variantNM_001037.5(SCN1B):c.448+444G>Anot provided [RCV001598197]benign193503418335034183Humanname
150465032CV1215377single nucleotide variantNM_001037.5(SCN1B):c.591-150A>Gnot provided [RCV001614076]benign193503948535039485Humanname
150469558CV1219094single nucleotide variantNM_001037.5(SCN1B):c.208-121T>Anot provided [RCV001614846]benign193503337835033378Humanname
150489131CV1265364single nucleotide variantNM_001037.5(SCN1B):c.448+346G>ABrugada syndrome 5 [RCV003621601]|not provided [RCV001687400]benign|uncertain significance193503408535034085Human1name
150443568CV1287902single nucleotide variantNM_001037.5(SCN1B):c.449-229C>Tnot provided [RCV001725624]benign193503888835038888Humanname
150544342CV1297857single nucleotide variantNM_001037.5(SCN1B):c.448+201C>TBrugada syndrome 5 [RCV001799531]|Brugada syndrome 5 [RCV001861117]|not provided [RCV001772765]likely pathogenic|uncertain significance193503394035033940Human1name
151855246CV1344532single nucleotide variantNM_001037.5(SCN1B):c.448+117C>TBrugada syndrome 5 [RCV001923313]uncertain significance193503385635033856Human1name
151784861CV1369161single nucleotide variantNM_001037.5(SCN1B):c.448+159C>TBrugada syndrome 5 [RCV002046501]|not provided [RCV003229081]uncertain significance193503389835033898Human1name
151751891CV1397755single nucleotide variantNM_001037.5(SCN1B):c.448+266G>ABrugada syndrome 5 [RCV001969268]uncertain significance193503400535034005Human1name
151795143CV1420658single nucleotide variantNM_001037.5(SCN1B):c.448+270T>CBrugada syndrome 5 [RCV002027583]uncertain significance193503400935034009Human1name
151887317CV1426739single nucleotide variantNM_001037.5(SCN1B):c.448+213G>CBrugada syndrome 5 [RCV002038162]uncertain significance193503395235033952Human1name
8692734CV142701single nucleotide variantNM_001037.5(SCN1B):c.448+181T>CBrugada syndrome 5 [RCV000860223]|not provided [RCV004717058]|not specified [RCV000127905]benign193503392035033920Human1name
8692735CV142702single nucleotide variantNM_001037.5(SCN1B):c.448+296C>ABrugada syndrome 5 [RCV000860327]|not provided [RCV004717059]|not specified [RCV000127906]benign193503403535034035Human1name
8692736CV142703single nucleotide variantNM_001037.5(SCN1B):c.448+301G>ABrugada syndrome 5 [RCV000461676]|not provided [RCV003992191]|not specified [RCV000127907]benign|likely benign193503404035034040Human1name
151870397CV1436771single nucleotide variantNM_001037.5(SCN1B):c.448+277G>TBrugada syndrome 5 [RCV002018860]uncertain significance193503401635034016Human1name
151854189CV1485389single nucleotide variantNM_001037.5(SCN1B):c.448+198G>ABrugada syndrome 5 [RCV002033565]uncertain significance193503393735033937Human1name
151868352CV1492153single nucleotide variantNM_001037.5(SCN1B):c.448+316T>CBrugada syndrome 5 [RCV002018622]uncertain significance193503405535034055Human1name
151889822CV1514363single nucleotide variantNM_001037.5(SCN1B):c.448+330A>GBrugada syndrome 5 [RCV001963506]uncertain significance193503406935034069Human1name
152046759CV1519666single nucleotide variantNM_001037.5(SCN1B):c.448+125G>TBrugada syndrome 5 [RCV002145172]likely benign193503386435033864Human1name
152171093CV1543950single nucleotide variantNM_001037.5(SCN1B):c.448+308C>TBrugada syndrome 5 [RCV002161988]likely benign193503404735034047Human1name
152068990CV1562150single nucleotide variantNM_001037.5(SCN1B):c.448+137G>ABrugada syndrome 5 [RCV002169046]likely benign193503387635033876Human1name
152105972CV1612697single nucleotide variantNM_001037.5(SCN1B):c.448+131G>ABrugada syndrome 5 [RCV002173720]likely benign193503387035033870Human1name
153002201CV1685453single nucleotide variantNM_001037.5(SCN1B):c.448+333C>TBrugada syndrome 5 [RCV003101437]|not provided [RCV002259439]uncertain significance193503407235034072Human1name
155641665CV1709894deletionNM_001037.5(SCN1B):c.*58_*59delnot provided [RCV002292994]benign|likely benign193503984835039849Humanname
155689421CV1775078single nucleotide variantNM_001037.5(SCN1B):c.448+136A>CBrugada syndrome 5 [RCV002294807]uncertain significance193503387535033875Human1name
9832511CV178738single nucleotide variantNM_001037.5(SCN1B):c.448+112G>ABrugada syndrome 5 [RCV001080219]|Ventricular fibrillation [RCV000157473]|not provided [RCV000171024]|not specified [RCV000212985]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503385135033851Human3name
156410630CV1882645single nucleotide variantNM_001037.5(SCN1B):c.448+280G>ABrugada syndrome 5 [RCV003072148]uncertain significance193503401935034019Human1name
10044935CV188690single nucleotide variantNM_001037.5(SCN1B):c.448+144A>GBrugada syndrome 5 [RCV000685853]|not provided [RCV000171044]uncertain significance193503388335033883Human1name
10044927CV188692single nucleotide variantNM_001037.5(SCN1B):c.448+189C>ABrugada syndrome 5 [RCV000990192]|Cardiovascular phenotype [RCV004020040]|not specified [RCV000171025]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503392835033928Human1name
10044684CV188693single nucleotide variantNM_001037.5(SCN1B):c.448+193G>AAtrial fibrillation, familial, 13 [RCV000578074]|Brugada syndrome 5 [RCV000226296]|Developmental and epileptic encephalopathy, 52 [RCV000578041]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000578118]|Long QT syndrome [RCV003318360]|not provided [RCV000171026]|not specified [RCV000212benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided193503393235033932Human6name
10044928CV188694single nucleotide variantNM_001037.5(SCN1B):c.448+230C>TBrugada syndrome 5 [RCV000538651]|not specified [RCV000171027]benign|likely benign193503396935033969Human1name
10044685CV188695single nucleotide variantNM_001037.5(SCN1B):c.448+295G>TBrugada syndrome 5 [RCV000794276]|not specified [RCV000171028]likely benign|uncertain significance193503403435034034Human1name
10044686CV188696single nucleotide variantNM_001037.5(SCN1B):c.448+321G>ABrugada syndrome 5 [RCV000990193]|Cardiovascular phenotype [RCV002313016]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002498856]|SCN1B-related disorder [RCV004535161]|not provided [RCV000226408]|not specified [RCV000171029]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503406035034060Human4name , trait , alternate_id
10044936CV188697single nucleotide variantNM_001037.5(SCN1B):c.448+345C>TBrugada syndrome 5 [RCV000532192]|not provided [RCV000171046]|not specified [RCV004689650]likely benign|uncertain significance193503408435034084Human1name
10044940CV188698single nucleotide variantNM_001037.5(SCN1B):c.448+354G>ABrugada syndrome 5 [RCV001361072]|not provided [RCV000171063]uncertain significance193503409335034093Human1name
156310059CV1895279single nucleotide variantNM_001037.5(SCN1B):c.448+215C>ABrugada syndrome 5 [RCV003088389]likely benign193503395435033954Human1name
156311519CV1934311single nucleotide variantNM_001037.5(SCN1B):c.448+219C>ABrugada syndrome 5 [RCV002629799]uncertain significance193503395835033958Human1name
156185681CV1964630single nucleotide variantNM_001037.5(SCN1B):c.448+346G>TBrugada syndrome 5 [RCV002574250]uncertain significance193503408535034085Human1name
156416986CV1970141single nucleotide variantNM_001037.5(SCN1B):c.448+191A>GBrugada syndrome 5 [RCV002589976]likely benign193503393035033930Human1name
155912893CV2029652single nucleotide variantNM_001037.5(SCN1B):c.448+264A>GBrugada syndrome 5 [RCV002750266]uncertain significance193503400335034003Human1name
156013998CV2038515single nucleotide variantNM_001037.5(SCN1B):c.448+221C>TBrugada syndrome 5 [RCV002780297]likely benign193503396035033960Human1name
156117149CV2055104single nucleotide variantNM_001037.5(SCN1B):c.448+336T>CBrugada syndrome 5 [RCV002825153]uncertain significance193503407535034075Human1name
155934834CV2114055single nucleotide variantNM_001037.5(SCN1B):c.448+169G>ABrugada syndrome 5 [RCV002904056]uncertain significance193503390835033908Human1name
156145610CV2130761single nucleotide variantNM_001037.5(SCN1B):c.448+130A>GBrugada syndrome 5 [RCV002982471]uncertain significance193503386935033869Human1name
156243723CV2147579single nucleotide variantNM_001037.5(SCN1B):c.448+158A>CBrugada syndrome 5 [RCV003026100]likely benign193503389735033897Human1name
11349043CV243330single nucleotide variantNM_001037.5(SCN1B):c.448+225C>TBrugada syndrome 5 [RCV000229019]|not provided [RCV004701329]|not specified [RCV005238772]uncertain significance193503396435033964Human1name
11349765CV243331single nucleotide variantNM_001037.5(SCN1B):c.448+320C>TBrugada syndrome 5 [RCV000231866]|not provided [RCV001675680]benign|likely benign193503405935034059Human1name
402521267CV2875725single nucleotide variantNM_001037.5(SCN1B):c.448+256T>ABrugada syndrome 5 [RCV003510825]uncertain significance193503399535033995Human1name
402523270CV2877169single nucleotide variantNM_001037.5(SCN1B):c.448+184C>ABrugada syndrome 5 [RCV003511005]uncertain significance193503392335033923Human1name
404980028CV2882879single nucleotide variantNM_001037.5(SCN1B):c.448+113C>GBrugada syndrome 5 [RCV003511297]likely benign193503385235033852Human1name
404979855CV2889792single nucleotide variantNM_001037.5(SCN1B):c.448+287G>CBrugada syndrome 5 [RCV003511324]likely benign193503402635034026Human1name
402504741CV2899587duplicationNM_001037.5(SCN1B):c.448+135dupBrugada syndrome 5 [RCV003509143]uncertain significance193503386935033870Human1name
402504795CV2899814single nucleotide variantNM_001037.5(SCN1B):c.448+120C>ABrugada syndrome 5 [RCV003509148]uncertain significance193503385935033859Human1name
402506147CV2901012single nucleotide variantNM_001037.5(SCN1B):c.448+111C>GBrugada syndrome 5 [RCV003509292]uncertain significance193503385035033850Human1name
402512631CV2914948single nucleotide variantNM_001037.5(SCN1B):c.448+210C>TBrugada syndrome 5 [RCV003510090]uncertain significance193503394935033949Human1name
402465285CV2965905single nucleotide variantNM_001037.5(SCN1B):c.448+305T>CBrugada syndrome 5 [RCV003622618]likely benign193503404435034044Human1name
402466388CV2994198single nucleotide variantNM_001037.5(SCN1B):c.448+105G>CBrugada syndrome 5 [RCV003622900]uncertain significance193503384435033844Human1name
402467127CV2997371single nucleotide variantNM_001037.5(SCN1B):c.448+288T>CBrugada syndrome 5 [RCV003623092]uncertain significance193503402735034027Human1name
402467321CV3008317single nucleotide variantNM_001037.5(SCN1B):c.448+262G>TBrugada syndrome 5 [RCV003623145]uncertain significance193503400135034001Human1name
402467702CV3009650single nucleotide variantNM_001037.5(SCN1B):c.448+342T>ABrugada syndrome 5 [RCV003623246]uncertain significance193503408135034081Human1name
402468741CV3027408single nucleotide variantNM_001037.5(SCN1B):c.448+115C>TBrugada syndrome 5 [RCV003623520]uncertain significance193503385435033854Human1name
402469579CV3054004single nucleotide variantNM_001037.5(SCN1B):c.448+154G>ABrugada syndrome 5 [RCV003623748]uncertain significance193503389335033893Human1name
402470046CV3056665single nucleotide variantNM_001037.5(SCN1B):c.448+135G>ABrugada syndrome 5 [RCV003623871]uncertain significance193503387435033874Human1name
405110609CV3133169single nucleotide variantNM_001037.5(SCN1B):c.448+219C>TBrugada syndrome 5 [RCV003836155]uncertain significance193503395835033958Human1name
405074905CV3140703single nucleotide variantNM_001037.5(SCN1B):c.448+152C>TBrugada syndrome 5 [RCV003833666]likely benign193503389135033891Human1name
405082150CV3167099single nucleotide variantNM_001037.5(SCN1B):c.448+111C>ABrugada syndrome 5 [RCV003851678]uncertain significance193503385035033850Human1name
402498119CV3170292single nucleotide variantNM_001037.5(SCN1B):c.448+135G>TBrugada syndrome 5 [RCV003877664]uncertain significance193503387435033874Human1name
402465304CV3177241single nucleotide variantNM_001037.5(SCN1B):c.448+210C>ABrugada syndrome 5 [RCV003872872]uncertain significance193503394935033949Human1name
405252179CV3177647single nucleotide variantNM_001037.5(SCN1B):c.448+233G>ABrugada syndrome 5 [RCV003870605]likely benign193503397235033972Human1name
405706867CV3225221deletionNM_001037.5(SCN1B):c.448+349delDevelopmental and epileptic encephalopathy, 52 [RCV003990275]likely pathogenic193503408535034085Human1name
408386944CV3524308single nucleotide variantNM_001037.5(SCN1B):c.448+289C>Tnot provided [RCV004768182]uncertain significance193503402835034028Humanname
12740913CV360542single nucleotide variantNM_001037.5(SCN1B):c.448+199G>ABrugada syndrome 5 [RCV002521425]|not specified [RCV000413478]uncertain significance193503393835033938Human1name
597719051CV3733474single nucleotide variantNM_001037.5(SCN1B):c.448+277G>Anot provided [RCV005052664]uncertain significance193503401635034016Humanname
597943873CV3754902single nucleotide variantNM_001037.5(SCN1B):c.448+208T>CBrugada syndrome 5 [RCV005078091]uncertain significance193503394735033947Human1name
597854055CV3762417single nucleotide variantNM_001037.5(SCN1B):c.448+160T>Cnot specified [RCV005088333]uncertain significance193503389935033899Humanname
12834040CV376399single nucleotide variantNM_001037.5(SCN1B):c.448+278G>ABrugada syndrome 5 [RCV001443075]|not provided [RCV000892967]likely benign193503401735034017Human1name
597844180CV3776636single nucleotide variantNM_001037.5(SCN1B):c.448+122G>CBrugada syndrome 5 [RCV005119492]uncertain significance193503386135033861Human1name
597850319CV3788192duplicationNM_001037.5(SCN1B):c.448+219dupBrugada syndrome 5 [RCV005125550]uncertain significance193503395335033954Human1name
597883381CV3807967single nucleotide variantNM_001037.5(SCN1B):c.448+347G>ABrugada syndrome 5 [RCV005158346]likely benign193503408635034086Human1name
597879792CV3814609single nucleotide variantNM_001037.5(SCN1B):c.448+171C>ABrugada syndrome 5 [RCV005154924]uncertain significance193503391035033910Human1name
597909539CV3839858single nucleotide variantNM_001037.5(SCN1B):c.448+129G>ABrugada syndrome 5 [RCV005184597]uncertain significance193503386835033868Human1name
597926061CV3856519single nucleotide variantNM_001037.5(SCN1B):c.448+197A>GBrugada syndrome 5 [RCV005200584]|not specified [RCV005241133]likely benign193503393635033936Human1name
597925183CV3859293deletionNM_001037.5(SCN1B):c.448+303delBrugada syndrome 5 [RCV005199946]uncertain significance193503404035034040Human1name
597933182CV3862847single nucleotide variantNM_001037.5(SCN1B):c.448+357T>CBrugada syndrome 5 [RCV005206381]uncertain significance193503409635034096Human1name
598227178CV3894472single nucleotide variantNM_001037.5(SCN1B):c.448+257G>Anot provided [RCV005257715]likely benign193503399635033996Humanname
12896551CV390353single nucleotide variantNM_001037.5(SCN1B):c.448+129G>Tnot specified [RCV000455502]uncertain significance193503386835033868Humanname
598177154CV4008250single nucleotide variantNM_001037.5(SCN1B):c.448+241C>TGeneralized epilepsy with febrile seizures plus, type 1 [RCV005393766]uncertain significance193503398035033980Human1name
12888785CV403241single nucleotide variantNM_001037.5(SCN1B):c.448+123C>TBrugada syndrome 5 [RCV000471594]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002489023]|not provided [RCV001726176]uncertain significance193503386235033862Human2name
12880923CV403289single nucleotide variantNM_001037.5(SCN1B):c.448+151C>ABrugada syndrome 5 [RCV000456901]uncertain significance193503389035033890Human1name
12881521CV403290single nucleotide variantNM_001037.5(SCN1B):c.448+219C>GBrugada syndrome 5 [RCV000457996]likely benign|uncertain significance193503395835033958Human1name
12887931CV403735single nucleotide variantNM_001037.5(SCN1B):c.448+111C>TBrugada syndrome 5 [RCV000469974]|SCN1B-related disorder [RCV004735539]|not specified [RCV000614197]likely benign|uncertain significance193503385035033850Human1name , trait , alternate_id
12892570CV403741single nucleotide variantNM_001037.5(SCN1B):c.448+257G>CBrugada syndrome 5 [RCV000476082]likely benign193503399635033996Human1name
12892592CV403752single nucleotide variantNM_001037.5(SCN1B):c.448+311G>ABrugada syndrome 5 [RCV000476729]|not provided [RCV002292554]likely benign193503405035034050Human1name
12907239CV415642single nucleotide variantNM_001037.5(SCN1B):c.448+126G>TBrugada syndrome 5 [RCV003509547]|not provided [RCV000490202]uncertain significance193503386535033865Human1name
12907056CV415643single nucleotide variantNM_001037.5(SCN1B):c.448+217C>TBrugada syndrome 5 [RCV002527024]|not provided [RCV000489974]uncertain significance193503395635033956Human1name
13480707CV446079single nucleotide variantNM_001037.5(SCN1B):c.448+103C>TBrugada syndrome 5 [RCV001346848]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002481715]|not provided [RCV000521306]uncertain significance193503384235033842Human2name
13481977CV446080deletionNM_001037.5(SCN1B):c.448+135delBrugada syndrome 5 [RCV001853696]|not provided [RCV000521660]|not specified [RCV001844186]uncertain significance193503387035033870Human1name
13497734CV468637single nucleotide variantNM_001037.5(SCN1B):c.448+215C>GBrugada syndrome 5 [RCV000525799]|not provided [RCV004704080]likely benign193503395435033954Human1name
13499161CV468638single nucleotide variantNM_001037.5(SCN1B):c.448+299A>GBrugada syndrome 5 [RCV000531705]|not provided [RCV001536245]|not specified [RCV001700412]benign|likely benign|uncertain significance193503403835034038Human1name
13464387CV469632single nucleotide variantNM_001037.5(SCN1B):c.448+163A>GBrugada syndrome 5 [RCV000541833]|not provided [RCV004592591]likely benign|uncertain significance193503390235033902Human1name
13466064CV469636single nucleotide variantNM_001037.5(SCN1B):c.448+192C>TBrugada syndrome 5 [RCV000549616]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002476176]|not provided [RCV001755857]uncertain significance193503393135033931Human2name
13503670CV469644single nucleotide variantNM_001037.5(SCN1B):c.448+252C>TBrugada syndrome 5 [RCV000555807]uncertain significance193503399135033991Human1name
13501128CV469647single nucleotide variantNM_001037.5(SCN1B):c.448+314C>ABrugada syndrome 5 [RCV000539724]|not provided [RCV001696221]|not specified [RCV001201297]benign|likely benign193503405335034053Human1name
13521851CV487947single nucleotide variantNM_001037.5(SCN1B):c.448+100G>TBrugada syndrome 5 [RCV003767345]|Developmental and epileptic encephalopathy, 52 [RCV002470916]|not specified [RCV003387892]uncertain significance193503383935033839Human2name
13520879CV495524single nucleotide variantNM_001037.5(SCN1B):c.448+337G>ABrugada syndrome 5 [RCV001085242]|not provided [RCV000598995]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503407635034076Human1name
13538641CV507253single nucleotide variantNM_001037.5(SCN1B):c.448+379G>Tnot specified [RCV000612131]likely benign193503411835034118Humanname
13619475CV532928single nucleotide variantNM_001037.5(SCN1B):c.448+226G>ABrugada syndrome 5 [RCV000646747]uncertain significance193503396535033965Human1name
13619477CV533298single nucleotide variantNM_001037.5(SCN1B):c.448+308C>ABrugada syndrome 5 [RCV000646751]likely benign193503404735034047Human1name
14690045CV621630single nucleotide variantNM_001037.5(SCN1B):c.448+167C>GBrugada syndrome 5 [RCV001438488]|not provided [RCV001637986]|not specified [RCV000780700]benign|likely benign193503390635033906Human1name
14720474CV647938single nucleotide variantNM_001037.5(SCN1B):c.448+127C>TBrugada syndrome 5 [RCV000813044]|not provided [RCV003442105]uncertain significance193503386635033866Human1name
14717135CV647939single nucleotide variantNM_001037.5(SCN1B):c.448+321G>CBrugada syndrome 5 [RCV000811781]uncertain significance193503406035034060Human1name
14721605CV647940single nucleotide variantNM_001037.5(SCN1B):c.448+334G>ABrugada syndrome 5 [RCV000813552]|Cardiovascular phenotype [RCV004669134]|not specified [RCV001553759]likely benign|uncertain significance193503407335034073Human1name
14746017CV668731single nucleotide variantNM_001037.5(SCN1B):c.448+610T>Cnot provided [RCV000843992]benign193503434935034349Humanname
14724843CV669657deletionNM_001037.5(SCN1B):c.208-136delnot provided [RCV000833165]likely benign193503336335033363Humanname
14746019CV669661single nucleotide variantNM_001037.5(SCN1B):c.448+679A>Cnot provided [RCV000843994]benign193503441835034418Humanname
14714517CV669884single nucleotide variantNM_001037.5(SCN1B):c.208-320T>Cnot provided [RCV000829064]benign193503317935033179Humanname
15098755CV688996single nucleotide variantNM_001037.5(SCN1B):c.448+211C>GBrugada syndrome 5 [RCV001500024]likely benign193503395035033950Human1name
21066546CV797783single nucleotide variantNM_001037.5(SCN1B):c.448+184C>Tnot provided [RCV000996831]uncertain significance193503392335033923Humanname
26916160CV847538single nucleotide variantNM_001037.5(SCN1B):c.448+187G>ABrugada syndrome 5 [RCV001056173]uncertain significance193503392635033926Human1name
26897659CV847539single nucleotide variantNM_001037.5(SCN1B):c.448+244A>TBrugada syndrome 5 [RCV001070409]|not provided [RCV003992439]uncertain significance193503398335033983Human1name
26885001CV847541single nucleotide variantNM_001037.5(SCN1B):c.448+310T>CBrugada syndrome 5 [RCV001043264]|not provided [RCV003127595]uncertain significance193503404935034049Human1name
26891055CV847542single nucleotide variantNM_001037.5(SCN1B):c.448+320C>ABrugada syndrome 5 [RCV001046277]likely benign|uncertain significance193503405935034059Human1name
26900066CV847543single nucleotide variantNM_001037.5(SCN1B):c.448+348G>TBrugada syndrome 5 [RCV001035194]uncertain significance193503408735034087Human1name
28881142CV860541single nucleotide variantNM_001037.5(SCN1B):c.448+335A>Tnot provided [RCV001091068]likely benign193503407435034074Humanname
34895608CV917292single nucleotide variantNM_001037.5(SCN1B):c.448+189C>Tnot specified [RCV001192715]uncertain significance193503392835033928Humanname
38476473CV928928single nucleotide variantNM_001037.5(SCN1B):c.448+236C>GBrugada syndrome 5 [RCV001215663]|not provided [RCV002293510]uncertain significance193503397535033975Human1name
38467406CV938649deletionNM_001037.5(SCN1B):c.448+205delBrugada syndrome 5 [RCV001212938]|not provided [RCV001751391]uncertain significance193503394435033944Human1name
38466543CV938650single nucleotide variantNM_001037.5(SCN1B):c.448+337G>TBrugada syndrome 5 [RCV001201877]|not specified [RCV003479289]uncertain significance193503407635034076Human1name
38597802CV964521single nucleotide variantNM_001037.5(SCN1B):c.448+124G>ABrugada syndrome 5 [RCV001306633]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001253149]uncertain significance193503386335033863Human2name
329352241CV2476746single nucleotide variantNM_001037.5(SCN1B):c.448+2215G>Anot provided [RCV003222978]benign|likely benign193503595435035954Humanname
401937195CV2808510single nucleotide variantNM_001037.5(SCN1B):c.448+2233G>Anot provided [RCV003415192]uncertain significance193503597235035972Humanname
155939839CV2054860deletionNM_001037.5(SCN1B):c.591-12_606delBrugada syndrome 5 [RCV002815618]likely pathogenic|uncertain significance193503961335039640Human1name
26915589CV852862deletionNM_001037.5(SCN1B):c.40+1_40+50delBrugada syndrome 5 [RCV001041440]likely pathogenic|uncertain significance193503085335030902Human1name
127300603CV1127752single nucleotide variantNM_001037.5(SCN1B):c.27C>A (p.Val9=)Brugada syndrome 5 [RCV001461134]likely benign193503084735030847Human1name
155720552CV1835801single nucleotide variantNM_001037.5(SCN1B):c.12G>A (p.Leu4=)Cardiovascular phenotype [RCV002380802]likely benign193503083235030832Humanname
13520646CV495521deletionNM_001037.5(SCN1B):c.448+4_448+12delBrugada syndrome 5 [RCV003767421]|Cardiovascular phenotype [RCV002331027]|not provided [RCV000598805]likely pathogenic|uncertain significance193503373935033747Human1name
126769255CV1034229single nucleotide variantNM_001037.5(SCN1B):c.3G>C (p.Met1Ile)Brugada syndrome 5 [RCV001343823]|not provided [RCV003234052]pathogenic|uncertain significance193503082335030823Human1name
127246873CV1084573single nucleotide variantNM_001037.5(SCN1B):c.69G>A (p.Glu23=)Brugada syndrome 5 [RCV001416813]likely benign193503255635032556Human1name
127245834CV1084574single nucleotide variantNM_001037.5(SCN1B):c.84C>T (p.Thr28=)Brugada syndrome 5 [RCV001393946]|Cardiovascular phenotype [RCV002449086]likely benign193503257135032571Human1name
127305065CV1148697single nucleotide variantNM_001037.5(SCN1B):c.90C>A (p.Ala30=)Brugada syndrome 5 [RCV001499825]|Cardiovascular phenotype [RCV002449324]likely benign193503257735032577Human1name
150421571CV1181728single nucleotide variantNM_001037.5(SCN1B):c.2T>C (p.Met1Thr)Brugada syndrome 5 [RCV003771691]|not provided [RCV001552076]pathogenic|uncertain significance193503082235030822Human1name
150529728CV1292947single nucleotide variantNM_001037.5(SCN1B):c.8G>T (p.Arg3Met)Brugada syndrome 5 [RCV003771908]|Cardiovascular phenotype [RCV002370274]|not provided [RCV001756340]uncertain significance193503082835030828Human1name
152060175CV1540585single nucleotide variantNM_001037.5(SCN1B):c.54C>T (p.Cys18=)Brugada syndrome 5 [RCV002110017]|Cardiovascular phenotype [RCV002346480]likely benign193503254135032541Human1name
155744705CV1824348single nucleotide variantNM_001037.5(SCN1B):c.84C>A (p.Thr28=)Cardiovascular phenotype [RCV002414402]likely benign193503257135032571Humanname
155965832CV1892063single nucleotide variantNM_001037.5(SCN1B):c.99G>T (p.Gly33=)Brugada syndrome 5 [RCV003074926]|Cardiovascular phenotype [RCV004071711]likely benign193503258635032586Human1name
402523526CV2884071single nucleotide variantNM_001037.5(SCN1B):c.72G>A (p.Val24=)Brugada syndrome 5 [RCV003511026]likely benign193503255935032559Human1name
404980002CV2892709single nucleotide variantNM_001037.5(SCN1B):c.5G>T (p.Gly2Val)Brugada syndrome 5 [RCV003511254]|Cardiovascular phenotype [RCV004985412]|not provided [RCV005003663]uncertain significance193503082535030825Human1name
402504985CV2906194single nucleotide variantNM_001037.5(SCN1B):c.39G>C (p.Leu13=)Brugada syndrome 5 [RCV003509168]uncertain significance193503085935030859Human1name
402469809CV3045268single nucleotide variantNM_001037.5(SCN1B):c.3G>A (p.Met1Ile)Brugada syndrome 5 [RCV003623809]pathogenic193503082335030823Human1name
402469493CV3053503single nucleotide variantNM_001037.5(SCN1B):c.33G>C (p.Ala11=)Brugada syndrome 5 [RCV003623724]|Cardiovascular phenotype [RCV004985538]likely benign193503085335030853Human1name
405701762CV3392222single nucleotide variantNM_001037.5(SCN1B):c.60C>G (p.Gly20=)Cardiovascular phenotype [RCV004521101]likely benign193503254735032547Humanname
407461555CV3480086single nucleotide variantNM_001037.5(SCN1B):c.60C>T (p.Gly20=)Cardiovascular phenotype [RCV004658753]likely benign193503254735032547Humanname
407461558CV3480088single nucleotide variantNM_001037.5(SCN1B):c.93G>T (p.Val31=)Cardiovascular phenotype [RCV004658754]likely benign193503258035032580Humanname
597681916CV3598095single nucleotide variantNM_001037.5(SCN1B):c.8G>C (p.Arg3Thr)Cardiovascular phenotype [RCV004983465]likely benign193503082835030828Humanname
12844618CV377372single nucleotide variantNM_001037.5(SCN1B):c.63C>T (p.Cys21=)Brugada syndrome 5 [RCV001078597]|Cardiovascular phenotype [RCV002365478]|not provided [RCV005241321]|not specified [RCV000438309]benign|likely benign193503255035032550Human1name
13467804CV470628single nucleotide variantNM_001037.5(SCN1B):c.78G>A (p.Ser26=)Brugada syndrome 5 [RCV001460380]likely benign193503256535032565Human1name
13509761CV482189single nucleotide variantNM_001037.5(SCN1B):c.1A>C (p.Met1Leu)Brugada syndrome 5 [RCV001215961]|Cardiovascular phenotype [RCV002420551]|not provided [RCV000578768]|not specified [RCV003987612]pathogenic|likely pathogenic|uncertain significance193503082135030821Human1name
13539069CV507250single nucleotide variantNM_001037.5(SCN1B):c.90C>T (p.Ala30=)Brugada syndrome 5 [RCV001504445]|Cardiovascular phenotype [RCV002377325]|not provided [RCV000867932]likely benign193503257735032577Human1name
15116574CV694375single nucleotide variantNM_001037.5(SCN1B):c.96T>C (p.Tyr32=)Brugada syndrome 5 [RCV000873352]|Cardiovascular phenotype [RCV002372475]|not provided [RCV004704243]likely benign193503258335032583Human1name
150415886CV1199096single nucleotide variantNM_001037.5(SCN1B):c.20T>G (p.Leu7Ter)not provided [RCV001575594]uncertain significance193503084035030840Humanname
150478751CV1273349single nucleotide variantNM_001037.5(SCN1B):c.222G>A (p.Glu74=)Brugada syndrome 5 [RCV005057544]|not provided [RCV001696552]likely benign193503351335033513Human1name
8692728CV142695single nucleotide variantNM_001037.5(SCN1B):c.267C>T (p.Arg89=)Brugada syndrome 5 [RCV001082771]|Cardiovascular phenotype [RCV000620631]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002483257]|SCN1B-related disorder [RCV004544288]|not provided [RCV000586689]|not specified [RCV000127899]benign|likely benign193503355835033558Human4name , trait , alternate_id
155749521CV1776072single nucleotide variantNM_001037.5(SCN1B):c.19T>A (p.Leu7Ile)Brugada syndrome 5 [RCV002304738]|not provided [RCV004779283]uncertain significance193503083935030839Human1name
155732113CV1835060single nucleotide variantNM_001037.5(SCN1B):c.17C>T (p.Ala6Val)Cardiovascular phenotype [RCV002407874]|not provided [RCV003328701]uncertain significance193503083735030837Humanname
155709567CV1843921single nucleotide variantNM_001037.5(SCN1B):c.213G>A (p.Leu71=)Brugada syndrome 5 [RCV003621657]|Cardiovascular phenotype [RCV002430516]likely benign193503350435033504Human1name
10044694CV188674single nucleotide variantNM_001037.5(SCN1B):c.22G>C (p.Val8Leu)Brugada syndrome 5 [RCV003765068]|not provided [RCV000171047]uncertain significance193503084235030842Human1name
10044695CV188675single nucleotide variantNM_001037.5(SCN1B):c.23T>C (p.Val8Ala)Brugada syndrome 5 [RCV000692873]|Cardiovascular phenotype [RCV003165347]|not provided [RCV004786487]likely benign|uncertain significance193503084335030843Human1name
156155311CV1926150single nucleotide variantNM_001037.5(SCN1B):c.147C>T (p.Thr49=)Brugada syndrome 5 [RCV002624157]likely benign193503263435032634Human1name
155941385CV2068194single nucleotide variantNM_001037.5(SCN1B):c.201T>C (p.Phe67=)Brugada syndrome 5 [RCV002839432]likely benign193503268835032688Human1name
155910833CV2084695single nucleotide variantNM_001037.5(SCN1B):c.291C>T (p.Gly97=)Brugada syndrome 5 [RCV002858475]|Cardiovascular phenotype [RCV004983156]likely benign193503358235033582Human1name
11637718CV266971single nucleotide variantNM_001037.5(SCN1B):c.273G>A (p.Val91=)Brugada syndrome 5 [RCV000646749]|not provided [RCV000725130]|not specified [RCV000289390]likely benign|conflicting interpretations of pathogenicity|uncertain significance193503356435033564Human1name
404979650CV2886276duplicationNM_001037.5(SCN1B):c.59dup (p.Cys21fs)Brugada syndrome 5 [RCV003511286]pathogenic193503254135032542Human1name
402515034CV2926291single nucleotide variantNM_001037.5(SCN1B):c.147C>A (p.Thr49=)Brugada syndrome 5 [RCV003510306]likely benign193503263435032634Human1name
405167349CV2941213single nucleotide variantNM_001037.5(SCN1B):c.286C>A (p.Arg96=)Brugada syndrome 5 [RCV003621810]likely benign193503357735033577Human1name
402466301CV2985777single nucleotide variantNM_001037.5(SCN1B):c.105C>T (p.Thr35=)Brugada syndrome 5 [RCV003622787]likely benign193503259235032592Human1name
402469024CV3038329single nucleotide variantNM_001037.5(SCN1B):c.189C>G (p.Gly63=)Brugada syndrome 5 [RCV003623595]likely benign193503267635032676Human1name
405171557CV3070062single nucleotide variantNM_001037.5(SCN1B):c.123C>T (p.Ile41=)Brugada syndrome 5 [RCV003622165]likely benign193503261035032610Human1name
405244473CV3165297single nucleotide variantNM_001037.5(SCN1B):c.238C>T (p.Leu80=)Brugada syndrome 5 [RCV003868182]likely benign193503352935033529Human1name
11614580CV343244single nucleotide variantNM_001037.5(SCN1B):c.150C>T (p.Asn50=)Brugada syndrome 5 [RCV000325994]|Cardiovascular phenotype [RCV002392882]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000277961]likely benign|conflicting interpretations of pathogenicity|uncertain significance193503263735032637Human2name
597681900CV3598090single nucleotide variantNM_001037.5(SCN1B):c.25G>A (p.Val9Ile)Cardiovascular phenotype [RCV004983461]uncertain significance193503084535030845Humanname
597681908CV3598092single nucleotide variantNM_001037.5(SCN1B):c.114T>C (p.Ile38=)Cardiovascular phenotype [RCV004983463]likely benign193503260135032601Humanname
597681912CV3598094single nucleotide variantNM_001037.5(SCN1B):c.21A>T (p.Leu7Phe)Cardiovascular phenotype [RCV004983464]likely benign193503084135030841Humanname
597681926CV3598097single nucleotide variantNM_001037.5(SCN1B):c.117T>G (p.Leu39=)Cardiovascular phenotype [RCV004983467]likely benign193503260435032604Humanname
597681939CV3598100single nucleotide variantNM_001037.5(SCN1B):c.174C>T (p.Thr58=)Cardiovascular phenotype [RCV004983470]likely benign193503266135032661Humanname
12844847CV377382single nucleotide variantNM_001037.5(SCN1B):c.192T>C (p.Thr64=)not specified [RCV000438729]likely benign193503267935032679Humanname
12833808CV377574single nucleotide variantNM_001037.5(SCN1B):c.258C>T (p.Phe86=)Brugada syndrome 5 [RCV000559249]|Cardiovascular phenotype [RCV002451030]|not specified [RCV000419214]likely benign193503354935033549Human1name
597927455CV3855034single nucleotide variantNM_001037.5(SCN1B):c.288G>A (p.Arg96=)Brugada syndrome 5 [RCV005201943]likely benign193503357935033579Human1name
12896342CV390453deletionNM_001037.5(SCN1B):c.67del (p.Glu23fs)not specified [RCV000455216]uncertain significance193503255335032553Humanname
12885147CV403285single nucleotide variantNM_001037.5(SCN1B):c.255C>G (p.Arg85=)Brugada syndrome 5 [RCV000464789]|Cardiovascular phenotype [RCV002318523]likely benign|uncertain significance193503354635033546Human1name
12898860CV410564single nucleotide variantNM_001037.5(SCN1B):c.13C>A (p.Leu5Met)Brugada syndrome 5 [RCV001851271]|Cardiovascular phenotype [RCV002395181]|not provided [RCV000478866]uncertain significance193503083335030833Human1name
13529112CV506602single nucleotide variantNM_001037.5(SCN1B):c.249T>C (p.Asp83=)Brugada syndrome 5 [RCV003509585]|Cardiovascular phenotype [RCV002431817]|not specified [RCV000600210]likely benign193503354035033540Human1name
13529826CV510799single nucleotide variantNM_001037.5(SCN1B):c.228G>A (p.Glu76=)Brugada syndrome 5 [RCV005091777]|Cardiovascular phenotype [RCV000621998]likely benign193503351935033519Human1name
14711596CV656522single nucleotide variantNM_001037.5(SCN1B):c.141C>T (p.Ser47=)Brugada syndrome 5 [RCV001858423]|Cardiovascular phenotype [RCV002390722]|not provided [RCV000828096]|not specified [RCV004702469]likely benign|uncertain significance193503262835032628Human1name
15141897CV694376single nucleotide variantNM_001037.5(SCN1B):c.165C>T (p.Thr55=)Brugada syndrome 5 [RCV000877758]|Cardiovascular phenotype [RCV002399968]likely benign193503265235032652Human1name
38460224CV938644single nucleotide variantNM_001037.5(SCN1B):c.16G>C (p.Ala6Pro)Brugada syndrome 5 [RCV001211790]uncertain significance193503083635030836Human1name
126735378CV1001095single nucleotide variantNM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)Brugada syndrome 5 [RCV003621712]|not provided [RCV003480310]uncertain significance193503254235032542Human1name
126746644CV1034230single nucleotide variantNM_001037.5(SCN1B):c.97G>A (p.Gly33Arg)Brugada syndrome 5 [RCV001337353]uncertain significance193503258435032584Human1name
127243074CV1084575single nucleotide variantNM_001037.5(SCN1B):c.444C>T (p.Asp148=)Brugada syndrome 5 [RCV001398287]likely benign193503373535033735Human1name
127286474CV1148698single nucleotide variantNM_001037.5(SCN1B):c.411C>T (p.Ser137=)Brugada syndrome 5 [RCV001494256]likely benign193503370235033702Human1name
150418126CV1181729single nucleotide variantNM_001037.5(SCN1B):c.41T>C (p.Val14Ala)Brugada syndrome 5 [RCV002568318]|not provided [RCV001550464]uncertain significance193503252835032528Human1name
150542230CV1303460deletionNM_001037.5(SCN1B):c.448+287_448+290delBrugada syndrome 5 [RCV001868583]|not provided [RCV001769150]uncertain significance193503402335034026Human1name
8660592CV135657single nucleotide variantNM_001037.5(SCN1B):c.501T>C (p.Ile167=)Brugada syndrome 5 [RCV000470285]|Cardiovascular phenotype [RCV000248271]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000395856]|not provided [RCV001689657]|not specified [RCV000118244]benign|likely benign|conflicting interpretations of pathogenicity193503916935039169Human2name
151881053CV1384784single nucleotide variantNM_001037.5(SCN1B):c.561C>G (p.Ala187=)Brugada syndrome 5 [RCV001982550]likely benign193503922935039229Human1name
151819942CV1385921single nucleotide variantNM_001037.5(SCN1B):c.98G>T (p.Gly33Val)Brugada syndrome 5 [RCV002013276]uncertain significance193503258535032585Human1name
151823592CV1425258microsatelliteNM_001037.5(SCN1B):c.448+174_448+175delBrugada syndrome 5 [RCV001919815]uncertain significance193503391135033912Humanname
8692729CV142696single nucleotide variantNM_001037.5(SCN1B):c.300C>T (p.Asp100=)Brugada syndrome 5 [RCV000197992]|Cardiovascular phenotype [RCV000617553]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001123152]|not provided [RCV001812111]|not specified [RCV000127900]likely pathogenic|benign|likely benign193503359135033591Human2name
8692730CV142697single nucleotide variantNM_001037.5(SCN1B):c.348G>A (p.Ser116=)Brugada syndrome 5 [RCV001447787]|Cardiovascular phenotype [RCV002453456]|SCN1B-related disorder [RCV004532533]|not provided [RCV001701522]|not specified [RCV000127901]benign|likely benign193503363935033639Human1name , trait , alternate_id
8692731CV142698single nucleotide variantNM_001037.5(SCN1B):c.351C>T (p.Gly117=)Brugada syndrome 5 [RCV000232458]|Cardiovascular phenotype [RCV000250305]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000284989]|not provided [RCV001723702]|not specified [RCV000127902]benign|likely benign193503364235033642Human2name
8692740CV142707single nucleotide variantNM_001037.5(SCN1B):c.561C>T (p.Ala187=)Brugada syndrome 5 [RCV001517240]|Cardiovascular phenotype [RCV002345438]|not provided [RCV000730227]|not specified [RCV000127913]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503922935039229Human1name
8692741CV142708single nucleotide variantNM_001037.5(SCN1B):c.588T>C (p.Asn196=)Brugada syndrome 5 [RCV000462584]|Cardiovascular phenotype [RCV002354319]|not provided [RCV001725994]|not specified [RCV000127914]benign|likely benign|conflicting interpretations of pathogenicity193503925635039256Human1name
152083144CV1525280single nucleotide variantNM_001037.5(SCN1B):c.408C>T (p.Thr136=)Brugada syndrome 5 [RCV002131082]|Cardiovascular phenotype [RCV004656888]|not provided [RCV003229083]likely benign|uncertain significance193503369935033699Human1name
152079503CV1596957single nucleotide variantNM_001037.5(SCN1B):c.414C>G (p.Val138=)Brugada syndrome 5 [RCV002092663]likely benign193503370535033705Human1name
152101687CV1667120single nucleotide variantNM_001037.5(SCN1B):c.360G>A (p.Glu120=)Brugada syndrome 5 [RCV005095741]|Cardiovascular phenotype [RCV004982940]|not provided [RCV002214106]likely benign193503365135033651Human1name
155641662CV1709893single nucleotide variantNM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)Brugada syndrome 5 [RCV003621622]|Cardiovascular phenotype [RCV005266252]|not provided [RCV002292993]uncertain significance193503254535032545Human1name
155679021CV1793269single nucleotide variantNM_001037.5(SCN1B):c.378G>A (p.Leu126=)Cardiovascular phenotype [RCV002353064]likely benign193503366935033669Humanname
155712974CV1802391single nucleotide variantNM_001037.5(SCN1B):c.50C>T (p.Ala17Val)Brugada syndrome 5 [RCV003621633]|Cardiovascular phenotype [RCV002335986]uncertain significance193503253735032537Human1name
155723311CV1804555single nucleotide variantNM_001037.5(SCN1B):c.651C>T (p.Ala217=)Brugada syndrome 5 [RCV003103304]|Cardiovascular phenotype [RCV002364211]likely benign193503969535039695Human1name
155681164CV1807630single nucleotide variantNM_001037.5(SCN1B):c.615T>C (p.Ser205=)Cardiovascular phenotype [RCV002353656]likely benign193503965935039659Humanname
155674157CV1810097single nucleotide variantNM_001037.5(SCN1B):c.549G>A (p.Lys183=)Brugada syndrome 5 [RCV003096770]|Cardiovascular phenotype [RCV002351598]|not provided [RCV004774666]likely benign|uncertain significance193503921735039217Human1name
155698205CV1810989single nucleotide variantNM_001037.5(SCN1B):c.606C>G (p.Ala202=)Cardiovascular phenotype [RCV002358355]likely benign193503965035039650Humanname
155681856CV1814746single nucleotide variantNM_001037.5(SCN1B):c.91G>A (p.Val31Met)Brugada syndrome 5 [RCV003103570]|Cardiovascular phenotype [RCV002371236]uncertain significance193503257835032578Human1name
10044696CV188676single nucleotide variantNM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)Brugada syndrome 5 [RCV001080647]|Cardiovascular phenotype [RCV000254455]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000299875]|SCN1B-related disorder [RCV004539576]|not provided [RCV000588361]|not specified [RCV000171049]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503084835030848Human2name , trait , alternate_id
10044697CV188677single nucleotide variantNM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)Brugada syndrome 5 [RCV000687916]|Cardiovascular phenotype [RCV002316985]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000765437]|not provided [RCV000766768]|not specified [RCV000192329]uncertain significance193503085835030858Human4name
10044704CV188678single nucleotide variantNM_001037.5(SCN1B):c.73G>A (p.Asp25Asn)Brugada syndrome 5 [RCV002517646]|Cardiovascular phenotype [RCV004020041]|not provided [RCV000171059]pathogenic|uncertain significance193503256035032560Human1name
10044705CV188679single nucleotide variantNM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)Brugada syndrome 5 [RCV001350746]|Cardiovascular phenotype [RCV002426813]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002485076]|not provided [RCV000171060]likely pathogenic|uncertain significance193503256935032569Human4name
10044930CV188680single nucleotide variantNM_001037.5(SCN1B):c.85G>C (p.Glu29Gln)Cardiovascular phenotype [RCV002444687]|not provided [RCV000171034]uncertain significance193503257235032572Humanname
10044412CV188702single nucleotide variantNM_001037.5(SCN1B):c.492T>C (p.Tyr164=)Brugada syndrome 5 [RCV000646750]|Cardiovascular phenotype [RCV002336403]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124237]|not provided [RCV005425785]|not specified [RCV000171032]benign|likely benign193503916035039160Human2name
155985333CV2094811single nucleotide variantNM_001037.5(SCN1B):c.627G>A (p.Glu209=)Brugada syndrome 5 [RCV002907894]likely benign193503967135039671Human1name
156137104CV2141211single nucleotide variantNM_001037.5(SCN1B):c.471C>A (p.Ile157=)Brugada syndrome 5 [RCV002982177]uncertain significance193503913935039139Human1name
156383127CV2223789single nucleotide variantNM_001037.5(SCN1B):c.50C>G (p.Ala17Gly)Cardiovascular phenotype [RCV004093860]uncertain significance193503253735032537Humanname
329384328CV2432523single nucleotide variantNM_001037.5(SCN1B):c.381C>G (p.Leu127=)Cardiovascular phenotype [RCV003176545]likely benign193503367235033672Humanname
329391008CV2455680single nucleotide variantNM_001037.5(SCN1B):c.498C>T (p.Leu166=)Brugada syndrome 5 [RCV005101315]|Cardiovascular phenotype [RCV003217080]likely benign|uncertain significance193503916635039166Human1name
401912681CV2800743deletionNM_001037.5(SCN1B):c.254del (p.Arg85fs)SCN1B-related disorder [RCV004529815]uncertain significance193503354535033545Humanname , trait , alternate_id
402520069CV2874688single nucleotide variantNM_001037.5(SCN1B):c.71T>A (p.Val24Glu)Brugada syndrome 5 [RCV003510744]uncertain significance193503255835032558Human1name
402520088CV2874703duplicationNM_001037.5(SCN1B):c.178dup (p.Arg60fs)Brugada syndrome 5 [RCV003510746]pathogenic193503266335032664Human1name
404979719CV2882880deletionNM_001037.5(SCN1B):c.105del (p.Phe36fs)Brugada syndrome 5 [RCV003511298]pathogenic193503259135032591Human1name
402506243CV2897046single nucleotide variantNM_001037.5(SCN1B):c.564C>T (p.Ala188=)Brugada syndrome 5 [RCV003509303]uncertain significance193503923235039232Human1name
405169147CV2954048single nucleotide variantNM_001037.5(SCN1B):c.504G>A (p.Val168=)Brugada syndrome 5 [RCV003621926]uncertain significance193503917235039172Human1name
402465336CV2969357single nucleotide variantNM_001037.5(SCN1B):c.399G>A (p.Glu133=)Brugada syndrome 5 [RCV003622630]likely benign193503369035033690Human1name
402464228CV3077140single nucleotide variantNM_001037.5(SCN1B):c.330T>C (p.Asn110=)Brugada syndrome 5 [RCV003622342]likely benign193503362135033621Human1name
402501679CV3181009single nucleotide variantNM_001037.5(SCN1B):c.339C>T (p.Tyr113=)Brugada syndrome 5 [RCV003878026]likely benign193503363035033630Human1name
402474488CV3182763single nucleotide variantNM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)Brugada syndrome 5 [RCV003875006]|Generalized epilepsy with febrile seizures plus, type 1 [RCV004796857]uncertain significance193503256435032564Human2name
597681921CV3598096single nucleotide variantNM_001037.5(SCN1B):c.54C>G (p.Cys18Trp)Cardiovascular phenotype [RCV004983466]likely benign193503254135032541Humanname
597681927CV3598098single nucleotide variantNM_001037.5(SCN1B):c.309T>C (p.Asp103=)Cardiovascular phenotype [RCV004983468]likely benign193503360035033600Humanname
597681934CV3598099single nucleotide variantNM_001037.5(SCN1B):c.315T>C (p.Ser105=)Cardiovascular phenotype [RCV004983469]likely benign193503360635033606Humanname
597681943CV3598102single nucleotide variantNM_001037.5(SCN1B):c.32C>T (p.Ala11Val)Brugada syndrome 5 [RCV005061563]|Cardiovascular phenotype [RCV004983471]uncertain significance193503085235030852Human1name
597883239CV3741263single nucleotide variantNM_001037.5(SCN1B):c.567G>A (p.Thr189=)Brugada syndrome 5 [RCV005070170]uncertain significance193503923535039235Human1name
597930244CV3745821single nucleotide variantNM_001037.5(SCN1B):c.369C>A (p.Val123=)Brugada syndrome 5 [RCV005075806]likely benign193503366035033660Human1name
12843570CV376400single nucleotide variantNM_001037.5(SCN1B):c.471C>T (p.Ile157=)Brugada syndrome 5 [RCV001473199]|Cardiovascular phenotype [RCV002339050]|SCN1B-related disorder [RCV004539855]|not specified [RCV000436454]likely benign193503913935039139Human1name , trait , alternate_id
12836770CV377400single nucleotide variantNM_001037.5(SCN1B):c.594G>A (p.Ser198=)Brugada syndrome 5 [RCV001403315]|Cardiovascular phenotype [RCV002356540]|not specified [RCV000423997]likely benign193503963835039638Human1name
12834069CV377590single nucleotide variantNM_001037.5(SCN1B):c.546C>T (p.Tyr182=)Brugada syndrome 5 [RCV000540563]|Cardiovascular phenotype [RCV002348213]|not provided [RCV001702454]|not specified [RCV000419705]likely benign193503921435039214Human1name
597859455CV3786238single nucleotide variantNM_001037.5(SCN1B):c.34G>A (p.Ala12Thr)Brugada syndrome 5 [RCV005133929]uncertain significance193503085435030854Human1name
12847494CV379527single nucleotide variantNM_001037.5(SCN1B):c.414C>T (p.Val138=)Brugada syndrome 5 [RCV001497487]|Cardiovascular phenotype [RCV002328940]|not provided [RCV001703648]benign|likely benign193503370535033705Human1name
597870680CV3803686single nucleotide variantNM_001037.5(SCN1B):c.82A>T (p.Thr28Ser)Brugada syndrome 5 [RCV005145403]uncertain significance193503256935032569Human1name
597896571CV3828826single nucleotide variantNM_001037.5(SCN1B):c.639C>T (p.Gly213=)Brugada syndrome 5 [RCV005171519]uncertain significance193503968335039683Human1name
597930045CV3861011single nucleotide variantNM_001037.5(SCN1B):c.89C>A (p.Ala30Asp)Brugada syndrome 5 [RCV005204374]uncertain significance193503257635032576Human1name
598124720CV3883655single nucleotide variantNM_001037.5(SCN1B):c.69G>T (p.Glu23Asp)not provided [RCV005236009]uncertain significance193503255635032556Humanname
12893843CV410566deletionNM_001037.5(SCN1B):c.108del (p.Phe36fs)Cardiovascular phenotype [RCV004017639]|not provided [RCV000480433]likely pathogenic|uncertain significance193503259535032595Humanname
13498623CV468640single nucleotide variantNM_001037.5(SCN1B):c.522C>A (p.Leu174=)Brugada syndrome 5 [RCV001447440]|Cardiovascular phenotype [RCV002341387]|not provided [RCV000529608]|not specified [RCV001700209]benign|likely benign|uncertain significance193503919035039190Human1name
13500399CV470620single nucleotide variantNM_001037.5(SCN1B):c.29G>A (p.Gly10Asp)Brugada syndrome 5 [RCV000536761]uncertain significance193503084935030849Human1name
13522259CV488667single nucleotide variantNM_001037.5(SCN1B):c.508T>C (p.Leu170=)Brugada syndrome 5 [RCV002062000]|not provided [RCV000591510]likely benign|uncertain significance193503917635039176Human1name
13529867CV506604single nucleotide variantNM_001037.5(SCN1B):c.366C>T (p.His122=)Brugada syndrome 5 [RCV001492565]|Cardiovascular phenotype [RCV002456361]|not specified [RCV000600472]likely benign193503365735033657Human1name
13531291CV506605single nucleotide variantNM_001037.5(SCN1B):c.522C>T (p.Leu174=)Brugada syndrome 5 [RCV002066784]|not provided [RCV001311512]|not specified [RCV000600999]likely benign193503919035039190Human1name
13526382CV506606single nucleotide variantNM_001037.5(SCN1B):c.585G>A (p.Glu195=)Brugada syndrome 5 [RCV003621556]|Cardiovascular phenotype [RCV002358685]|not specified [RCV000604087]likely benign|uncertain significance193503925335039253Human1name
13526876CV507644single nucleotide variantNM_001037.5(SCN1B):c.396C>T (p.Tyr132=)Brugada syndrome 5 [RCV001473179]|Cardiovascular phenotype [RCV004669055]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002483683]|not provided [RCV000762004]likely benign193503368735033687Human4name
13529995CV510798single nucleotide variantNM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)Brugada syndrome 5 [RCV003621563]|Cardiovascular phenotype [RCV000622208]|SCN1B-related disorder [RCV004533279]|not provided [RCV005235447]uncertain significance193503255635032556Human1name , trait , alternate_id
13811672CV573032single nucleotide variantNM_001037.5(SCN1B):c.64G>A (p.Val22Met)Brugada syndrome 5 [RCV000688909]uncertain significance193503255135032551Human1name
13835431CV586689single nucleotide variantNM_001037.5(SCN1B):c.621C>T (p.Ser207=)Brugada syndrome 5 [RCV003621567]|not provided [RCV000731232]uncertain significance193503966535039665Human1name
14699620CV624878single nucleotide variantNM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)Brugada syndrome 5 [RCV001222654]|Cardiovascular phenotype [RCV004027377]|Childhood absence epilepsy [RCV000789049]|Generalized epilepsy with febrile seizures plus, type 1 [RCV004789188]uncertain significance193503257235032572Human3name
14711364CV656523single nucleotide variantNM_001037.5(SCN1B):c.429C>T (p.His143=)Brugada syndrome 5 [RCV002538267]|not provided [RCV000828019]likely benign193503372035033720Human1name
14741729CV656524single nucleotide variantNM_001037.5(SCN1B):c.465A>G (p.Ala155=)not provided [RCV000840919]likely benign193503913335039133Humanname
15133172CV684785single nucleotide variantNM_001037.5(SCN1B):c.387C>T (p.Phe129=)Brugada syndrome 5 [RCV000863919]|Cardiovascular phenotype [RCV003169105]likely benign193503367835033678Human1name
15141158CV695817single nucleotide variantNM_001037.5(SCN1B):c.555C>T (p.Ile185=)Brugada syndrome 5 [RCV001419293]|Cardiovascular phenotype [RCV003169209]likely benign193503922335039223Human1name
15152673CV741775single nucleotide variantNM_001037.5(SCN1B):c.357C>T (p.Tyr119=)Brugada syndrome 5 [RCV000901614]|Cardiovascular phenotype [RCV002460117]likely benign193503364835033648Human1name
28900165CV880291single nucleotide variantNM_001037.5(SCN1B):c.636G>A (p.Thr212=)Brugada syndrome 5 [RCV001124241]|Cardiovascular phenotype [RCV003163281]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001124240]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503968035039680Human2name
38457549CV938645single nucleotide variantNM_001037.5(SCN1B):c.31G>A (p.Ala11Thr)Brugada syndrome 5 [RCV001211162]uncertain significance193503085135030851Human1name
126768522CV1013668single nucleotide variantNM_001037.5(SCN1B):c.137G>T (p.Arg46Leu)Brugada syndrome 5 [RCV001321412]uncertain significance193503262435032624Human1name
126771888CV1013669single nucleotide variantNM_001037.5(SCN1B):c.209T>C (p.Ile70Thr)Brugada syndrome 5 [RCV001323418]uncertain significance193503350035033500Human1name
126757454CV1013670single nucleotide variantNM_001037.5(SCN1B):c.215G>T (p.Arg72Leu)Brugada syndrome 5 [RCV001317494]uncertain significance193503350635033506Human1name
126761486CV1034231single nucleotide variantNM_001037.5(SCN1B):c.259G>A (p.Glu87Lys)Brugada syndrome 5 [RCV001340705]uncertain significance193503355035033550Human1name
150555384CV1297842single nucleotide variantNM_001037.5(SCN1B):c.214C>G (p.Arg72Gly)not provided [RCV001772750]uncertain significance193503350535033505Humanname
151866533CV1342177single nucleotide variantNM_001037.5(SCN1B):c.290G>C (p.Gly97Ala)Brugada syndrome 5 [RCV001997801]uncertain significance193503358135033581Human1name
151830522CV1405446single nucleotide variantNM_001037.5(SCN1B):c.190A>G (p.Thr64Ala)Brugada syndrome 5 [RCV001901765]|Cardiovascular phenotype [RCV004988889]uncertain significance193503267735032677Human1name
151886384CV1414909single nucleotide variantNM_001037.5(SCN1B):c.281G>T (p.Gly94Val)Brugada syndrome 5 [RCV001887553]|Cardiovascular phenotype [RCV002440991]uncertain significance193503357235033572Human1name
151745356CV1433040single nucleotide variantNM_001037.5(SCN1B):c.284G>A (p.Ser95Asn)Brugada syndrome 5 [RCV001968579]uncertain significance193503357535033575Human1name
151802196CV1442375single nucleotide variantNM_001037.5(SCN1B):c.182A>G (p.Gln61Arg)Brugada syndrome 5 [RCV002011677]uncertain significance193503266935032669Human1name
151763828CV1447568single nucleotide variantNM_001037.5(SCN1B):c.274T>C (p.Trp92Arg)Brugada syndrome 5 [RCV001895644]uncertain significance193503356535033565Human1name
151875966CV1466926single nucleotide variantNM_001037.5(SCN1B):c.219T>G (p.Tyr73Ter)Brugada syndrome 5 [RCV001885863]pathogenic|uncertain significance193503351035033510Human1name
151779750CV1491822single nucleotide variantNM_001037.5(SCN1B):c.137G>A (p.Arg46His)Brugada syndrome 5 [RCV002046046]uncertain significance193503262435032624Human1name
155692616CV1836932single nucleotide variantNM_001037.5(SCN1B):c.151G>A (p.Ala51Thr)Cardiovascular phenotype [RCV002392395]uncertain significance193503263835032638Humanname
10044689CV188681single nucleotide variantNM_001037.5(SCN1B):c.121A>G (p.Ile41Val)Brugada syndrome 5 [RCV001224112]|Cardiovascular phenotype [RCV002362870]|not provided [RCV001721099]|not specified [RCV003488418]likely benign|uncertain significance193503260835032608Human1name
10044690CV188682single nucleotide variantNM_001037.5(SCN1B):c.134G>A (p.Arg45His)Brugada syndrome 5 [RCV000559019]|Cardiovascular phenotype [RCV002381546]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000765438]|not provided [RCV000171036]uncertain significance193503262135032621Human4name
10044931CV188683single nucleotide variantNM_001037.5(SCN1B):c.214C>T (p.Arg72Cys)Brugada syndrome 5 [RCV000546983]|not provided [RCV000171037]uncertain significance193503350535033505Human1name
10044691CV188684single nucleotide variantNM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)Brugada syndrome 5 [RCV001127219]|Cardiovascular phenotype [RCV000620273]|Developmental and epileptic encephalopathy, 52 [RCV003448275]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000500892]|not provided [RCV002223804]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance193503354435033544Human3name
10044692CV188685single nucleotide variantNM_001037.5(SCN1B):c.266G>A (p.Arg89His)Brugada syndrome 5 [RCV000466397]|Cardiovascular phenotype [RCV002433738]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002485075]|not provided [RCV000171039]likely benign|uncertain significance193503355735033557Human4name
156128288CV1889216single nucleotide variantNM_001037.5(SCN1B):c.142G>A (p.Glu48Lys)Brugada syndrome 5 [RCV003081729]uncertain significance193503262935032629Human1name
156406151CV1894755single nucleotide variantNM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)Brugada syndrome 5 [RCV003070253]|SCN1B-related disorder [RCV004536598]uncertain significance193503358035033580Human1name , trait , alternate_id
10048476CV193464deletionNM_001037.5(SCN1B):c.347del (p.Ser116fs)Brugada syndrome 5 [RCV001320975]|not provided [RCV000177106]pathogenic|likely pathogenic|uncertain significance193503363835033638Human1name
156067476CV2054565single nucleotide variantNM_001037.5(SCN1B):c.202G>C (p.Val68Leu)Brugada syndrome 5 [RCV002797297]|not provided [RCV004697237]uncertain significance193503268935032689Human1name
155990702CV2066792single nucleotide variantNM_001037.5(SCN1B):c.295A>T (p.Lys99Ter)Brugada syndrome 5 [RCV002842946]|not provided [RCV003232685]pathogenic|uncertain significance193503358635033586Human1name
156268577CV2097248deletionNM_001037.5(SCN1B):c.447del (p.Ala150fs)Brugada syndrome 5 [RCV002877525]pathogenic|uncertain significance193503373635033736Human1name
156131423CV2116880single nucleotide variantNM_001037.5(SCN1B):c.173C>G (p.Thr58Ser)Brugada syndrome 5 [RCV002928215]uncertain significance193503266035032660Human1name
155942931CV2143090single nucleotide variantNM_001037.5(SCN1B):c.139A>G (p.Ser47Gly)Brugada syndrome 5 [RCV002994172]uncertain significance193503262635032626Human1name
156206202CV2160144single nucleotide variantNM_001037.5(SCN1B):c.249T>G (p.Asp83Glu)Brugada syndrome 5 [RCV003042158]|not provided [RCV004700895]uncertain significance193503354035033540Human1name
156285583CV2172217single nucleotide variantNM_001037.5(SCN1B):c.179G>T (p.Arg60Leu)Brugada syndrome 5 [RCV003027474]uncertain significance193503266635032666Human1name
156159468CV2191693single nucleotide variantNM_001037.5(SCN1B):c.284G>C (p.Ser95Thr)Brugada syndrome 5 [RCV003040652]uncertain significance193503357535033575Human1name
8598230CV24294single nucleotide variantNM_001037.5(SCN1B):c.259G>C (p.Glu87Gln)Conduction system disorder [RCV000009837]|Developmental and epileptic encephalopathy, 52 [RCV003988820]|not provided [RCV003332078]pathogenic|uncertain significance193503355035033550Human2name
329384330CV2432522duplicationNM_001037.5(SCN1B):c.631dup (p.Cys211fs)Brugada syndrome 5 [RCV003778952]|Cardiovascular phenotype [RCV003176544]|not provided [RCV004572868]likely pathogenic|uncertain significance193503967435039675Human1name
11638044CV268778single nucleotide variantNM_001037.5(SCN1B):c.268G>A (p.Val90Met)Brugada syndrome 5 [RCV000690213]|Cardiovascular phenotype [RCV002450811]|not provided [RCV000295558]uncertain significance193503355935033559Human1name
11639352CV271246single nucleotide variantNM_001037.5(SCN1B):c.168G>C (p.Glu56Asp)not provided [RCV000317942]uncertain significance193503265535032655Humanname
401754833CV2717546single nucleotide variantNM_001037.5(SCN1B):c.229G>A (p.Val77Met)Cardiovascular phenotype [RCV003296697]uncertain significance193503352035033520Humanname
401829492CV2747426single nucleotide variantNM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)Brugada syndrome 5 [RCV003621698]|not provided [RCV003328891]uncertain significance193503350935033509Human1name
401855745CV2753147single nucleotide variantNM_001037.5(SCN1B):c.289G>C (p.Gly97Arg)Generalized epilepsy with febrile seizures plus, type 1 [RCV003338203]uncertain significance193503358035033580Human1name
402510190CV2854024single nucleotide variantNM_001037.5(SCN1B):c.275G>C (p.Trp92Ser)Brugada syndrome 5 [RCV003509902]uncertain significance193503356635033566Human1name
402517128CV2858901single nucleotide variantNM_001037.5(SCN1B):c.197A>G (p.Glu66Gly)Brugada syndrome 5 [RCV003510503]uncertain significance193503268435032684Human1name
402520488CV2875174single nucleotide variantNM_001037.5(SCN1B):c.224A>G (p.Asn75Ser)Brugada syndrome 5 [RCV003510782]uncertain significance193503351535033515Human1name
402465529CV2976977single nucleotide variantNM_001037.5(SCN1B):c.109A>C (p.Lys37Gln)Brugada syndrome 5 [RCV003622673]uncertain significance193503259635032596Human1name
402467001CV2996773single nucleotide variantNM_001037.5(SCN1B):c.167A>G (p.Glu56Gly)Brugada syndrome 5 [RCV003623060]uncertain significance193503265435032654Human1name
402467195CV3004301single nucleotide variantNM_001037.5(SCN1B):c.239T>C (p.Leu80Pro)Brugada syndrome 5 [RCV003623110]uncertain significance193503353035033530Human1name
405276366CV3198507single nucleotide variantNM_001037.5(SCN1B):c.251A>G (p.Glu84Gly)SCN1B-related disorder [RCV004536942]uncertain significance193503354235033542Humanname , trait , alternate_id
408380450CV3518298single nucleotide variantNM_001037.5(SCN1B):c.254G>T (p.Arg85Leu)Generalized epilepsy with febrile seizures plus, type 1 [RCV004759621]|not provided [RCV004775640]likely pathogenic|uncertain significance193503354535033545Human1name
597842206CV3752889single nucleotide variantNM_001037.5(SCN1B):c.198G>T (p.Glu66Asp)Brugada syndrome 5 [RCV005086618]uncertain significance193503268535032685Human1name
597837875CV3763048single nucleotide variantNM_001037.5(SCN1B):c.142G>C (p.Glu48Gln)Brugada syndrome 5 [RCV005110821]uncertain significance193503262935032629Human1name
12839743CV377397single nucleotide variantNM_001037.5(SCN1B):c.248A>T (p.Asp83Val)not provided [RCV000429392]uncertain significance193503353935033539Humanname
597865272CV3792118single nucleotide variantNM_001037.5(SCN1B):c.125C>A (p.Ser42Tyr)Brugada syndrome 5 [RCV005139674]uncertain significance193503261235032612Human1name
597873519CV3805386single nucleotide variantNM_001037.5(SCN1B):c.166G>T (p.Glu56Ter)Brugada syndrome 5 [RCV005148664]pathogenic193503265335032653Human1name
597893884CV3831748single nucleotide variantNM_001037.5(SCN1B):c.172A>C (p.Thr58Pro)Brugada syndrome 5 [RCV005168687]|not provided [RCV005415694]uncertain significance193503265935032659Human1name
597922173CV3858208single nucleotide variantNM_001037.5(SCN1B):c.145A>T (p.Thr49Ser)Brugada syndrome 5 [RCV005196951]uncertain significance193503263235032632Human1name
13215941CV430178single nucleotide variantNM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)Brugada syndrome 5 [RCV000815939]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002476008]|not provided [RCV001764493]|not specified [RCV000503065]uncertain significance193503262035032620Human2name
13498677CV469629single nucleotide variantNM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)Brugada syndrome 5 [RCV000529816]|not provided [RCV000732892]uncertain significance193503262335032623Human1name
13465750CV470044single nucleotide variantNM_001037.5(SCN1B):c.286C>T (p.Arg96Trp)Brugada syndrome 5 [RCV000548321]|Cardiovascular phenotype [RCV004659101]uncertain significance193503357735033577Human1name
13509881CV482190single nucleotide variantNM_001037.5(SCN1B):c.196G>T (p.Glu66Ter)Brugada syndrome 5 [RCV001368794]|Cardiovascular phenotype [RCV004984988]|Undetermined early-onset epileptic encephalopathy [RCV004017681]|not provided [RCV000578998]pathogenic|likely pathogenic|uncertain significance193503268335032683Human2name
13520748CV495708deletionNM_001037.5(SCN1B):c.644del (p.Gln215fs)not provided [RCV000598889]uncertain significance193503968835039688Humanname
13804490CV574937single nucleotide variantNM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)Brugada syndrome 5 [RCV000685280]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000765439]uncertain significance193503264535032645Human2name
14701941CV647936single nucleotide variantNM_001037.5(SCN1B):c.256T>C (p.Phe86Leu)Brugada syndrome 5 [RCV000806634]|not provided [RCV003238818]uncertain significance193503354735033547Human1name
8621351CV75309single nucleotide variantNM_001037.5(SCN1B):c.254G>A (p.Arg85His)Atrial fibrillation, familial, 13 [RCV000054537]|Brugada syndrome 5 [RCV001059134]|Cardiovascular phenotype [RCV002453365]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000763041]|SCN1B-related disorder [RCV004542717]|not provided [RCV000485749]pathogenic|likely pathogenic|uncertain significance193503354535033545Human4name , trait , alternate_id
25317180CV805109single nucleotide variantNM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)Brugada syndrome 5 [RCV001050500]|Cardiovascular phenotype [RCV002454255]|Developmental and epileptic encephalopathy, 52 [RCV003989622]|Epileptic encephalopathy [RCV003483751]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001007883]|not provided [RCV001766822]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance193503355635033556Human5name
26920279CV847532single nucleotide variantNM_001037.5(SCN1B):c.178C>T (p.Arg60Cys)Brugada syndrome 5 [RCV001059822]|Cardiovascular phenotype [RCV002402430]|Developmental and epileptic encephalopathy, 52 [RCV004789391]|not provided [RCV001759815]pathogenic|likely pathogenic|uncertain significance193503266535032665Human2name
26888734CV847533single nucleotide variantNM_001037.5(SCN1B):c.179G>A (p.Arg60His)Brugada syndrome 5 [RCV001067207]|Cardiovascular phenotype [RCV004030643]|not provided [RCV002067724]uncertain significance193503266635032666Human1name
26917911CV847534single nucleotide variantNM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)Brugada syndrome 5 [RCV001057345]|Cardiovascular phenotype [RCV002451237]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002479349]uncertain significance193503354135033541Human4name
28897307CV880290single nucleotide variantNM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)Brugada syndrome 5 [RCV001123151]|Cardiovascular phenotype [RCV004032245]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001123150]|not provided [RCV001560471]benign|conflicting interpretations of pathogenicity|uncertain significance193503357835033578Human2name
38465756CV938646single nucleotide variantNM_001037.5(SCN1B):c.122T>G (p.Ile41Ser)Brugada syndrome 5 [RCV001201767]uncertain significance193503260935032609Human1name
38483565CV938647single nucleotide variantNM_001037.5(SCN1B):c.212T>C (p.Leu71Pro)Brugada syndrome 5 [RCV001207692]uncertain significance193503350335033503Human1name
38474847CV950749single nucleotide variantNM_001037.5(SCN1B):c.173C>T (p.Thr58Ile)Brugada syndrome 5 [RCV001232363]uncertain significance193503266035032660Human1name
38497146CV950750single nucleotide variantNM_001037.5(SCN1B):c.263G>A (p.Gly88Asp)Brugada syndrome 5 [RCV001226876]uncertain significance193503355435033554Human1name
38468056CV958597single nucleotide variantNM_001037.5(SCN1B):c.290G>A (p.Gly97Asp)Brugada syndrome 5 [RCV001247965]uncertain significance193503358135033581Human1name
41405027CV982180single nucleotide variantNM_001037.5(SCN1B):c.215G>A (p.Arg72His)Cardiovascular phenotype [RCV002430069]|SCN1B-related disorder [RCV004734092]|not provided [RCV001812338]uncertain significance193503350635033506Humanname , trait , alternate_id
126762436CV998505single nucleotide variantNM_001037.5(SCN1B):c.166G>A (p.Glu56Lys)Brugada syndrome 5 [RCV001309883]|Severe myoclonic epilepsy in infancy [RCV001731195]pathogenic|uncertain significance193503265335032653Human2name
126768086CV1034232single nucleotide variantNM_001037.5(SCN1B):c.358G>A (p.Glu120Lys)Brugada syndrome 5 [RCV001343139]uncertain significance193503364935033649Human1name
126911150CV1051215single nucleotide variantNM_001037.5(SCN1B):c.367G>T (p.Val123Phe)Brugada syndrome 5 [RCV001369091]uncertain significance193503365835033658Human1name
126924502CV1051216single nucleotide variantNM_001037.5(SCN1B):c.374G>T (p.Arg125Leu)Brugada syndrome 5 [RCV001367109]|not provided [RCV002223307]uncertain significance193503366535033665Human1name
126911336CV1051217single nucleotide variantNM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys)Brugada syndrome 5 [RCV001369164]|Cardiovascular phenotype [RCV003169893]uncertain significance193503368635033686Human1name
150440898CV1204469single nucleotide variantNM_001037.5(SCN1B):c.570G>T (p.Glu190Asp)Cardiovascular phenotype [RCV003161141]|not provided [RCV001583574]uncertain significance193503923835039238Humanname
150554255CV1296660single nucleotide variantNM_001037.5(SCN1B):c.502G>C (p.Val168Leu)Cardiovascular phenotype [RCV005271358]|not provided [RCV001770897]uncertain significance193503917035039170Humanname
151234384CV1320254single nucleotide variantNM_001037.5(SCN1B):c.379C>T (p.Leu127Phe)Brugada syndrome 5 [RCV002541327]|not provided [RCV001799877]uncertain significance193503367035033670Human1name
151891552CV1347108single nucleotide variantNM_001037.5(SCN1B):c.420G>C (p.Lys140Asn)Brugada syndrome 5 [RCV002039160]uncertain significance193503371135033711Human1name
151833334CV1348228single nucleotide variantNM_001037.5(SCN1B):c.448G>T (p.Ala150Ser)Brugada syndrome 5 [RCV001880519]uncertain significance193503373935033739Human1name
151761377CV1349671single nucleotide variantNM_001037.5(SCN1B):c.571A>C (p.Thr191Pro)Brugada syndrome 5 [RCV001949183]|Cardiovascular phenotype [RCV003375476]uncertain significance193503923935039239Human1name
151723321CV1358185single nucleotide variantNM_001037.5(SCN1B):c.506T>C (p.Val169Ala)Brugada syndrome 5 [RCV001945214]|Cardiovascular phenotype [RCV002344026]uncertain significance193503917435039174Human1name
151723553CV1358267single nucleotide variantNM_001037.5(SCN1B):c.652G>A (p.Glu218Lys)Brugada syndrome 5 [RCV001945239]|Cardiovascular phenotype [RCV004043423]uncertain significance193503969635039696Human1name
151829712CV1362428single nucleotide variantNM_001037.5(SCN1B):c.655T>C (p.Ter219Gln)Brugada syndrome 5 [RCV001993594]uncertain significance193503969935039699Human1name
151861718CV1374289single nucleotide variantNM_001037.5(SCN1B):c.622A>C (p.Lys208Gln)Brugada syndrome 5 [RCV001938629]uncertain significance193503966635039666Human1name
151855564CV1391996single nucleotide variantNM_001037.5(SCN1B):c.331G>A (p.Val111Ile)Brugada syndrome 5 [RCV001883293]|Cardiovascular phenotype [RCV003164232]uncertain significance193503362235033622Human1name
151833514CV1416590single nucleotide variantNM_001037.5(SCN1B):c.304C>T (p.Gln102Ter)Brugada syndrome 5 [RCV002014540]pathogenic|uncertain significance193503359535033595Human1name
151815425CV1463419single nucleotide variantNM_001037.5(SCN1B):c.455G>A (p.Arg152Lys)Brugada syndrome 5 [RCV001900364]uncertain significance193503912335039123Human1name
151717196CV1465174single nucleotide variantNM_001037.5(SCN1B):c.352G>A (p.Asp118Asn)Brugada syndrome 5 [RCV002003099]|not provided [RCV004591683]uncertain significance193503364335033643Human1name
151866929CV1473993single nucleotide variantNM_001037.5(SCN1B):c.487A>G (p.Met163Val)Brugada syndrome 5 [RCV001905995]uncertain significance193503915535039155Human1name
151757950CV1509077single nucleotide variantNM_001037.5(SCN1B):c.489G>A (p.Met163Ile)Brugada syndrome 5 [RCV002024041]|Cardiovascular phenotype [RCV002337162]|not provided [RCV005429382]uncertain significance193503915735039157Human1name
151758358CV1509122single nucleotide variantNM_001037.5(SCN1B):c.611C>A (p.Thr204Asn)Brugada syndrome 5 [RCV002024080]uncertain significance193503965535039655Human1name
151828511CV1510155single nucleotide variantNM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)Brugada syndrome 5 [RCV001920260]|Cardiovascular phenotype [RCV002344016]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002503575]|not provided [RCV002224113]uncertain significance193503922835039228Human4name
151757631CV1514273single nucleotide variantNM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)Brugada syndrome 5 [RCV001948782]|Cardiovascular phenotype [RCV002331494]|not provided [RCV004728969]uncertain significance193503373935033739Human1name
152033923CV1669066single nucleotide variantNM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)Brugada syndrome 5 [RCV003093871]|Cardiovascular phenotype [RCV004982943]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002496151]|not provided [RCV002223410]uncertain significance193503925235039252Human4name
152037308CV1669098single nucleotide variantNM_001037.5(SCN1B):c.487A>T (p.Met163Leu)not provided [RCV002224150]uncertain significance193503915535039155Humanname
155264873CV1704422single nucleotide variantNM_001037.5(SCN1B):c.316A>G (p.Ile106Val)Brugada syndrome 5 [RCV003509711]|Cardiovascular phenotype [RCV004047574]|not provided [RCV002284638]uncertain significance193503360735033607Human1name
155671529CV1776033single nucleotide variantNM_001037.5(SCN1B):c.415G>T (p.Val139Phe)Brugada syndrome 5 [RCV002297441]uncertain significance193503370635033706Human1name
9832510CV178737single nucleotide variantNM_001037.5(SCN1B):c.412G>A (p.Val138Ile)Brugada syndrome 5 [RCV001084740]|Cardiovascular phenotype [RCV000248951]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000401928]|Long QT syndrome [RCV000172897]|SCN1B-related disorder [RCV004734748]|not provided [RCV000171023]|not specified [RCV0pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance193503370335033703Human4name , trait , alternate_id
155733664CV1788054single nucleotide variantNM_001037.5(SCN1B):c.424A>G (p.Ile142Val)Brugada syndrome 5 [RCV005096520]|Cardiovascular phenotype [RCV002329832]uncertain significance193503371535033715Human1name
155725476CV1790940single nucleotide variantNM_001037.5(SCN1B):c.419A>C (p.Lys140Thr)Cardiovascular phenotype [RCV002327818]uncertain significance193503371035033710Humanname
155717803CV1792632single nucleotide variantNM_001037.5(SCN1B):c.346T>G (p.Ser116Ala)Cardiovascular phenotype [RCV002337502]uncertain significance193503363735033637Humanname
155746409CV1800151single nucleotide variantNM_001037.5(SCN1B):c.569A>T (p.Glu190Val)Cardiovascular phenotype [RCV002347522]uncertain significance193503923735039237Humanname
155743841CV1803195single nucleotide variantNM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)Brugada syndrome 5 [RCV003096818]|Cardiovascular phenotype [RCV002345071]uncertain significance193503923035039230Human1name
155745982CV1803357single nucleotide variantNM_001037.5(SCN1B):c.565A>G (p.Thr189Ala)Cardiovascular phenotype [RCV002347304]uncertain significance193503923335039233Humanname
155711104CV1811756single nucleotide variantNM_001037.5(SCN1B):c.641T>C (p.Val214Ala)Cardiovascular phenotype [RCV002361675]uncertain significance193503968535039685Humanname
155666695CV1856744single nucleotide variantNM_001037.5(SCN1B):c.299A>G (p.Asp100Gly)Cardiovascular phenotype [RCV002435576]uncertain significance193503359035033590Humanname
155797338CV1859288single nucleotide variantNM_001037.5(SCN1B):c.635C>T (p.Thr212Met)Brugada syndrome 5 [RCV003621669]|Cardiovascular phenotype [RCV003375623]|not provided [RCV002464916]uncertain significance193503967935039679Human1name
10044932CV188686single nucleotide variantNM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr)Brugada syndrome 5 [RCV000797071]|Cardiovascular phenotype [RCV004984711]|not provided [RCV000171040]uncertain significance193503364335033643Human1name
10044933CV188687single nucleotide variantNM_001037.5(SCN1B):c.367G>A (p.Val123Ile)Brugada syndrome 5 [RCV001315548]|Cardiovascular phenotype [RCV002453586]|not provided [RCV000171042]likely benign|uncertain significance193503365835033658Human1name
10044939CV188688single nucleotide variantNM_001037.5(SCN1B):c.374G>A (p.Arg125His)Atrial fibrillation, familial, 13 [RCV001770132]|Brugada syndrome 5 [RCV000690875]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002485077]|not provided [RCV000171061]|not specified [RCV003235089]likely pathogenic|uncertain significance193503366535033665Human3name
10044693CV188691single nucleotide variantNM_199037.4(SCN1B):c.604C>A (p.Pro202Thr)not provided [RCV000171045]uncertain significance193503389535033895Humanname
10044699CV188701single nucleotide variantNM_001037.5(SCN1B):c.472G>A (p.Val158Met)Brugada syndrome 5 [RCV002515234]|not provided [RCV000171052]pathogenic|likely pathogenic|uncertain significance193503914035039140Human1name
10044937CV188703single nucleotide variantNM_001037.5(SCN1B):c.523G>A (p.Val175Met)Brugada syndrome 5 [RCV000646746]|Cardiovascular phenotype [RCV002312699]uncertain significance193503919135039191Human1name
10044700CV188704single nucleotide variantNM_001037.5(SCN1B):c.590C>T (p.Ala197Val)Brugada syndrome 5 [RCV000646745]|Cardiovascular phenotype [RCV002354422]|Developmental and epileptic encephalopathy, 52 [RCV004725020]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002478539]|SCN1B-related disorder [RCV004535162]|not provided [RCVlikely benign|uncertain significance193503925835039258Human4name , trait , alternate_id
10044938CV188705single nucleotide variantNM_001037.5(SCN1B):c.627G>C (p.Glu209Asp)Cardiovascular phenotype [RCV003372632]|not provided [RCV000171055]uncertain significance193503967135039671Humanname
10044701CV188706single nucleotide variantNM_001037.5(SCN1B):c.630C>A (p.Asn210Lys)not provided [RCV000171056]uncertain significance193503967435039674Humanname
10044702CV188707single nucleotide variantNM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)Brugada syndrome 5 [RCV001080509]|Cardiovascular phenotype [RCV000254246]|Developmental and epileptic encephalopathy, 52 [RCV003989476]|not provided [RCV000713013]likely benign|conflicting interpretations of pathogenicity|uncertain significance193503967635039676Human2name
10044703CV188708single nucleotide variantNM_001037.5(SCN1B):c.638G>A (p.Gly213Asp)Brugada syndrome 5 [RCV000693228]|Cardiovascular phenotype [RCV002354423]|not provided [RCV000171058]uncertain significance193503968235039682Human1name
10044688CV188709single nucleotide variantNM_001037.5(SCN1B):c.640G>A (p.Val214Ile)Brugada syndrome 5 [RCV001852052]|Cardiovascular phenotype [RCV002316984]|not provided [RCV003229815]likely benign|uncertain significance193503968435039684Human1name
156412396CV1890554single nucleotide variantNM_001037.5(SCN1B):c.329A>G (p.Asn110Ser)Brugada syndrome 5 [RCV003072875]uncertain significance193503362035033620Human1name
156264328CV2054048single nucleotide variantNM_001037.5(SCN1B):c.335C>T (p.Thr112Ile)Brugada syndrome 5 [RCV002792125]uncertain significance193503362635033626Human1name
156314797CV2089684single nucleotide variantNM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)Brugada syndrome 5 [RCV002898924]pathogenic193503918635039186Human1name
155923649CV2148645single nucleotide variantNM_001037.5(SCN1B):c.431T>C (p.Ile144Thr)Brugada syndrome 5 [RCV003013307]uncertain significance193503372235033722Human1name
243051524CV2403908single nucleotide variantNM_001037.5(SCN1B):c.343C>T (p.His115Tyr)not provided [RCV003128982]uncertain significance193503363435033634Humanname
243050968CV2415638single nucleotide variantNM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)Generalized epilepsy with febrile seizures plus, type 1 [RCV003148238]uncertain significance193503967835039678Human1name
8598228CV24291single nucleotide variantNM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)Atrial fibrillation, familial, 13 [RCV000184010]|Brugada syndrome 5 [RCV000646741]|Cardiovascular phenotype [RCV002316188]|Generalized epilepsy with febrile seizures plus [RCV000030434]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000009834]|Generalized epilepsy with febrile seizures pathogenic|likely pathogenic|conflicting interpretations of pathogenicity193503365435033654Human5name , trait , alternate_id
401737945CV2714264single nucleotide variantNM_001037.5(SCN1B):c.484A>G (p.Met162Val)Cardiovascular phenotype [RCV004315953]|Generalized epilepsy with febrile seizures plus, type 1 [RCV004784135]uncertain significance193503915235039152Human1name
401774742CV2728256single nucleotide variantNM_001037.5(SCN1B):c.647T>G (p.Val216Gly)Cardiovascular phenotype [RCV003305381]uncertain significance193503969135039691Humanname
401830238CV2747964single nucleotide variantNM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)Brugada syndrome 5 [RCV003509809]|not provided [RCV003329571]uncertain significance193503925835039258Human1name
401899588CV2790575single nucleotide variantNM_001037.5(SCN1B):c.646G>A (p.Val216Met)Cardiovascular phenotype [RCV003377759]uncertain significance193503969035039690Humanname
401870553CV2792434single nucleotide variantNM_001037.5(SCN1B):c.565A>C (p.Thr189Pro)Cardiovascular phenotype [RCV003381284]uncertain significance193503923335039233Humanname
402517978CV2859566single nucleotide variantNM_001037.5(SCN1B):c.349G>A (p.Gly117Ser)Brugada syndrome 5 [RCV003510549]uncertain significance193503364035033640Human1name
404980631CV2898368single nucleotide variantNM_001037.5(SCN1B):c.430A>G (p.Ile144Val)Brugada syndrome 5 [RCV003511441]uncertain significance193503372135033721Human1name
402512201CV2914692single nucleotide variantNM_001037.5(SCN1B):c.520C>T (p.Leu174Phe)Brugada syndrome 5 [RCV003510079]uncertain significance193503918835039188Human1name
405168190CV2942763single nucleotide variantNM_001037.5(SCN1B):c.517T>C (p.Trp173Arg)Brugada syndrome 5 [RCV003621719]uncertain significance193503918535039185Human1name
402467551CV3009143single nucleotide variantNM_001037.5(SCN1B):c.527C>T (p.Ala176Val)Brugada syndrome 5 [RCV003623204]uncertain significance193503919535039195Human1name
404999695CV3120198single nucleotide variantNM_001037.5(SCN1B):c.389A>C (p.Glu130Ala)Brugada syndrome 5 [RCV003827988]uncertain significance193503368035033680Human1name
405171802CV3150113single nucleotide variantNM_001037.5(SCN1B):c.634A>C (p.Thr212Pro)Brugada syndrome 5 [RCV003841584]|not provided [RCV005416746]uncertain significance193503967835039678Human1name
407514517CV3480087single nucleotide variantNM_001037.5(SCN1B):c.469A>G (p.Ile157Val)Cardiovascular phenotype [RCV004674595]uncertain significance193503913735039137Humanname
597681895CV3598089single nucleotide variantNM_001037.5(SCN1B):c.556G>A (p.Ala186Thr)Cardiovascular phenotype [RCV004983460]uncertain significance193503922435039224Humanname
597682708CV3598091single nucleotide variantNM_001037.5(SCN1B):c.593C>T (p.Ser198Leu)Cardiovascular phenotype [RCV004983462]uncertain significance193503963735039637Humanname
12791763CV362162single nucleotide variantNM_001037.5(SCN1B):c.308A>T (p.Asp103Val)Cardiomyopathy [RCV000416448]pathogenic193503359935033599Human2name
12791680CV362555single nucleotide variantNM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)Brugada syndrome 5 [RCV001865315]|Developmental and epileptic encephalopathy, 52 [RCV000417191]|Generalized epilepsy with febrile seizures plus, type 1 [RCV003224271]|Seizure [RCV001785611]|not provided [RCV001565054]pathogenic|likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records193503366435033664Human5name
12791681CV362556single nucleotide variantNM_001037.5(SCN1B):c.316A>T (p.Ile106Phe)Developmental and epileptic encephalopathy, 52 [RCV000417192]pathogenic193503360735033607Human1name
597660999CV3709486single nucleotide variantNM_001037.5(SCN1B):c.463G>T (p.Ala155Ser)Cardiovascular phenotype [RCV005269094]|Generalized epilepsy with febrile seizures plus, type 1 [RCV005028472]|not provided [RCV005054498]uncertain significance193503913135039131Human4name
597850019CV3746834single nucleotide variantNM_001037.5(SCN1B):c.460A>G (p.Met154Val)Brugada syndrome 5 [RCV005060461]uncertain significance193503912835039128Human1name
12837876CV376396single nucleotide variantNM_001037.5(SCN1B):c.405C>G (p.Asn135Lys)Brugada syndrome 5 [RCV002522724]|not provided [RCV000425929]uncertain significance193503369635033696Human1name
597856738CV3788754single nucleotide variantNM_001037.5(SCN1B):c.371A>G (p.Tyr124Cys)Brugada syndrome 5 [RCV005131232]uncertain significance193503366235033662Human1name
597877653CV3796689single nucleotide variantNM_001037.5(SCN1B):c.563C>T (p.Ala188Val)Brugada syndrome 5 [RCV005152772]uncertain significance193503923135039231Human1name
597868830CV3801746single nucleotide variantNM_001037.5(SCN1B):c.611C>G (p.Thr204Ser)Brugada syndrome 5 [RCV005143735]uncertain significance193503965535039655Human1name
597872975CV3803294single nucleotide variantNM_001037.5(SCN1B):c.593C>A (p.Ser198Ter)Brugada syndrome 5 [RCV005147891]uncertain significance193503963735039637Human1name
597873181CV3803466single nucleotide variantNM_001037.5(SCN1B):c.514A>C (p.Ile172Leu)Brugada syndrome 5 [RCV005148063]uncertain significance193503918235039182Human1name
597882618CV3810962single nucleotide variantNM_001037.5(SCN1B):c.630C>G (p.Asn210Lys)Brugada syndrome 5 [RCV005157671]uncertain significance193503967435039674Human1name
597881615CV3816091single nucleotide variantNM_001037.5(SCN1B):c.617A>G (p.Glu206Gly)Brugada syndrome 5 [RCV005156672]uncertain significance193503966135039661Human1name
597891397CV3832081single nucleotide variantNM_001037.5(SCN1B):c.404A>C (p.Asn135Thr)Brugada syndrome 5 [RCV005166337]uncertain significance193503369535033695Human1name
597901783CV3835190single nucleotide variantNM_001037.5(SCN1B):c.555C>G (p.Ile185Met)Brugada syndrome 5 [RCV005176366]|Cardiovascular phenotype [RCV005269200]uncertain significance193503922335039223Human1name
597915555CV3847437single nucleotide variantNM_001037.5(SCN1B):c.469A>T (p.Ile157Phe)Brugada syndrome 5 [RCV005190419]uncertain significance193503913735039137Human1name
597927804CV3851482insertionNM_001037.5(SCN1B):c.24_25insT (p.Val9fs)Brugada syndrome 5 [RCV005202259]pathogenic193503084435030845Human1name
597921596CV3860789single nucleotide variantNM_001037.5(SCN1B):c.581A>G (p.Gln194Arg)Brugada syndrome 5 [RCV005196317]uncertain significance193503924935039249Human1name
598238917CV3893277single nucleotide variantNM_001037.5(SCN1B):c.442G>C (p.Asp148His)not provided [RCV005256010]uncertain significance193503373335033733Humanname
598234758CV3910431single nucleotide variantNM_001037.5(SCN1B):c.530A>G (p.Glu177Gly)Cardiovascular phenotype [RCV005275119]uncertain significance193503919835039198Humanname
598234761CV3910432single nucleotide variantNM_001037.5(SCN1B):c.547A>G (p.Lys183Glu)Cardiovascular phenotype [RCV005275120]uncertain significance193503921535039215Humanname
12913356CV422257single nucleotide variantNM_001037.5(SCN1B):c.449C>T (p.Ala150Val)Brugada syndrome 5 [RCV003766771]|not provided [RCV000493721]uncertain significance193503911735039117Human1name
13212233CV426297single nucleotide variantNM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)Brugada syndrome 5 [RCV002524082]|not provided [RCV000498527]pathogenic|uncertain significance193503368735033687Human1name
13610424CV426701single nucleotide variantNM_001037.5(SCN1B):c.472G>C (p.Val158Leu)Brugada syndrome 5 [RCV001857033]|Cardiovascular phenotype [RCV002341177]|See cases [RCV002252143]|Self-limited epilepsy with centrotemporal spikes [RCV000656062]|not provided [RCV003456401]pathogenic|uncertain significance193503914035039140Human2name
13481626CV446081single nucleotide variantNM_001037.5(SCN1B):c.508T>G (p.Leu170Val)Brugada syndrome 5 [RCV002527568]|Cardiovascular phenotype [RCV002341218]|not provided [RCV000521558]uncertain significance193503917635039176Human1name
13483573CV446082duplicationNM_001037.5(SCN1B):c.615dup (p.Glu206Ter)Brugada syndrome 5 [RCV003509559]|Cardiovascular phenotype [RCV005268632]|not provided [RCV000522094]uncertain significance193503965835039659Human1name
8603037CV45417single nucleotide variantNM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)Brugada syndrome 5 [RCV000860328]|Cardiac arrhythmia [RCV001841545]|not provided [RCV004716913]|not specified [RCV000127908]benign|uncertain significance193503404035034040Human3name
8603038CV45418single nucleotide variantNM_199037.3(SCN1B):c.751G>A (p.Val251Ile)Brugada syndrome 5 [RCV001372438]|Cardiac arrhythmia [RCV001841546]|not provided [RCV000996832]|not specified [RCV000454426]likely pathogenic|uncertain significance193503404235034042Human3name
13467076CV469648single nucleotide variantNM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)Brugada syndrome 5 [RCV000553474]|Cardiovascular phenotype [RCV002367897]|SCN1B-related disorder [RCV000709910]uncertain significance|not provided193503966735039667Human1name , trait , alternate_id
13619472CV532844single nucleotide variantNM_001037.5(SCN1B):c.310C>A (p.Leu104Met)Brugada syndrome 5 [RCV000646743]uncertain significance193503360135033601Human1name
13619476CV532849single nucleotide variantNM_001037.5(SCN1B):c.461T>C (p.Met154Thr)Brugada syndrome 5 [RCV000646748]|Cardiovascular phenotype [RCV002331208]|SCN1B-related disorder [RCV004735710]|not provided [RCV001584490]uncertain significance193503912935039129Human1name , trait , alternate_id
13619471CV532926single nucleotide variantNM_001037.5(SCN1B):c.415G>A (p.Val139Ile)Brugada syndrome 5 [RCV000646742]|Cardiovascular phenotype [RCV002331207]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002507107]|not provided [RCV001766391]likely benign|uncertain significance193503370635033706Human4name
13816722CV572346single nucleotide variantNM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)Brugada syndrome 5 [RCV000706555]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001004758]uncertain significance193503368835033688Human2name
13811999CV574938single nucleotide variantNM_001037.5(SCN1B):c.350G>A (p.Gly117Asp)Brugada syndrome 5 [RCV000689139]uncertain significance193503364135033641Human1name
13829785CV580388single nucleotide variantNM_001037.5(SCN1B):c.471C>G (p.Ile157Met)Brugada syndrome 5 [RCV001862054]|Cardiovascular phenotype [RCV002318088]uncertain significance193503913935039139Human1name
14395636CV611431single nucleotide variantNM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)Brugada syndrome 5 [RCV000798273]|Cardiovascular phenotype [RCV004027171]|Developmental and epileptic encephalopathy, 52 [RCV002250691]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000760199]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002536577]|not provided [RCV00322uncertain significance193503363835033638Human4name
14711673CV647941single nucleotide variantNM_001037.5(SCN1B):c.542G>A (p.Cys181Tyr)Brugada syndrome 5 [RCV000810034]uncertain significance193503921035039210Human1name
14975414CV672454single nucleotide variantNM_001037.5(SCN1B):c.523G>T (p.Val175Leu)Brugada syndrome [RCV000845413]uncertain significance193503919135039191Human1name
15040286CV682722single nucleotide variantNM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp)Developmental and epileptic encephalopathy, 52 [RCV000856659]pathogenic193503364635033646Human1name
15132533CV695818single nucleotide variantNM_001037.5(SCN1B):c.566C>T (p.Thr189Met)Brugada syndrome 5 [RCV000876164]|Cardiovascular phenotype [RCV002346028]likely benign193503923435039234Human1name
8621352CV75310single nucleotide variantNM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)Atrial fibrillation, familial, 13 [RCV000054538]|Brugada syndrome 5 [RCV001853079]|Cardiovascular phenotype [RCV000620098]|Death in early adulthood [RCV000234993]|Generalized epilepsy with febrile seizures plus, type 1 [RCV002477176]|not provided [RCV000766769]|not specified [RCV000171064]pathogenic|uncertain significance193503912535039125Human6name
21066543CV797782single nucleotide variantNM_001037.5(SCN1B):c.409A>G (p.Ser137Gly)not provided [RCV000996829]uncertain significance193503370035033700Humanname
26923705CV847535single nucleotide variantNM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys)Brugada syndrome 5 [RCV001064469]uncertain significance193503362935033629Human1name
26901403CV847536single nucleotide variantNM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)Brugada syndrome 5 [RCV001071568]|Generalized epilepsy with febrile seizures plus, type 1 [RCV003483778]uncertain significance|not provided193503367935033679Human2name
402513306CV2930632insertionNM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)Brugada syndrome 5 [RCV003510175]pathogenic193503258135032582Human1name
150542084CV1302482microsatelliteNM_001037.5(SCN1B):c.240GGA[2] (p.Glu82del)not provided [RCV001761172]uncertain significance193503353135033533Humanname
155674953CV1810221microsatelliteNM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)Brugada syndrome 5 [RCV003096777]|Cardiovascular phenotype [RCV002351722]uncertain significance193503921535039217Humanname
156082437CV1883742indelNM_001037.5(SCN1B):c.448+119_448+120delinsAABrugada syndrome 5 [RCV003079914]uncertain significance193503385835033859Humanname
155936334CV2074874deletionNM_001037.5(SCN1B):c.312_315del (p.Ile106fs)Brugada syndrome 5 [RCV002861464]pathogenic|uncertain significance193503360035033603Human1name
596925464CV3542091microsatelliteNM_001037.5(SCN1B):c.419AGA[1] (p.Lys141del)Generalized epilepsy with febrile seizures plus, type 1 [RCV004795807]uncertain significance193503370935033711Humanname
597847179CV3768376indelNM_001037.5(SCN1B):c.448+301_448+302delinsCABrugada syndrome 5 [RCV005122755]likely benign193503404035034041Humanname
26905392CV847540indelNM_001037.5(SCN1B):c.448+295_448+296delinsAABrugada syndrome 5 [RCV001051268]uncertain significance193503403435034035Humanname
38499676CV958598microsatelliteNM_001037.5(SCN1B):c.401ACA[1] (p.Asn135del)Brugada syndrome 5 [RCV001244944]uncertain significance193503369235033694Humanname
126725647CV998506microsatelliteNM_001037.5(SCN1B):c.412GTC[1] (p.Val139del)Brugada syndrome 5 [RCV001302637]uncertain significance193503370235033704Humanname
597846129CV3786622deletionNM_001037.5(SCN1B):c.20del (p.Ala6_Leu7insTer)Brugada syndrome 5 [RCV005121713]pathogenic193503083935030839Human1name
155644381CV1708658indelNM_001037.5(SCN1B):c.457_458delinsT (p.Asp153fs)Brugada syndrome 1 [RCV002291191]uncertain significance193503912535039126Humanname
597841072CV3775759microsatelliteNM_001037.5(SCN1B):c.419AGA[3] (p.Lys141_Ile142insLys)Brugada syndrome 5 [RCV005115474]uncertain significance193503370835033709Humanname
12913066CV422258indelNM_001037.5(SCN1B):c.477delinsATGATGGATG (p.Ser159_Glu160insTer)not provided [RCV000493343]uncertain significance193503914535039145Humanname