MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1635
Name:Brugada Syndrome 4
Definition:
Alternative IDs:OMIM:611876
ParentIDs:MESH:D053840
TreeNumbers:C14.280.067.322/C567508 |C14.280.123.250/C567508 |C16.320.100/C567508
Synonyms:BRGDA4
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)
Reference: MedGen: C567508
MeSH: C567508
OMIM: 611876;
MSeqDR LSDB:  
Genes: CACNB2; CPS1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005110Atrial fibrillation
3 HP:0012232Shortened QT interval
4 HP:0001279Syncope
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_201571.3(CACNB2):c.36+7C>G783CACNB2Likely benign570174364RCV000625134; NMedGen:C2678477,OMIM:611876101843015118430151-C2678477 611876 Brugada syndrome 4;
NM_201571.3(CACNB2):c.37-26_37-20delTTTTTTT783CACNB2Likely benign71402148RCV000625135; NMedGen:C2678477,OMIM:611876101843978618439792-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.2T>C (p.Met1Thr)783CACNB2Uncertain significance1401122407RCV000527613; NMedGen:C2678477,OMIM:611876101862985718629857-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.32C>T (p.Thr11Ile)783CACNB2Pathogenic587777742RCV000144246; NMedGen:C2678477,OMIM:611876101862988718629887OMIM Allelic Variant:600003.0002C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.39C>T (p.Tyr13=)783CACNB2Likely benign1060504916RCV000470688; NMedGen:C2678477,OMIM:611876101862989418629894-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.51+10C>T783CACNB2Likely benign753309815RCV000469630; NMedGen:C2678477,OMIM:611876101862991618629916-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.52-6C>T783CACNB2Likely benign864622500RCV000203769; NMedGen:C2678477,OMIM:611876101869084718690847-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.56C>T (p.Ser19Leu)783CACNB2Uncertain significance755056713RCV000646204; RCV000497797; NMedGen:C2678477,OMIM:611876; MedGen:CN517202101869085718690857-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.128G>C (p.Arg43Thr)783CACNB2Uncertain significance-1RCV000699711; NMedGen:C2678477,OMIM:611876101869092918690929-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.171+9G>C783CACNB2Likely benign752760931RCV000528255; NMedGen:C2678477,OMIM:611876101869098118690981-C2678477 611876 Brugada syndrome 4;
NM_000724.3(CACNB2):c.169-8C>T783CACNB2Conflicting interpretations of pathogenicity374465425RCV000625136; RCV000208153; NMedGen:C2678477,OMIM:611876; EFO:EFO_0004287,Human Phenotype Ontology:HP:0001663,MedGen:C0042510,SNOMED CT:71908006101878727618787276-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.177G>A (p.Lys59=)783CACNB2Likely benign748906162RCV000646212; NMedGen:C2678477,OMIM:611876101878728918787289-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.180C>T (p.Pro60=)783CACNB2Likely benign368505003RCV000646211; NMedGen:C2678477,OMIM:611876101878729218787292-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.192G>A (p.Ala64=)783CACNB2Conflicting interpretations of pathogenicity182163363RCV000355062; RCV000475844; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876101878730418787304-C1142166 Brugada syndrome;
NM_000724.3(CACNB2):c.215C>T (p.Ala72Val)783CACNB2Uncertain significance200367454RCV000693237; RCV000245027; RCV000148447; RCV000766681; RCV000437912; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; na; MedGen:CN517202; MedGen:CN169374101878733018787330-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.241G>T (p.Val81Leu)783CACNB2Uncertain significance1060503435RCV000477539; NMedGen:C2678477,OMIM:611876101878735318787353-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.262T>C (p.Phe88Leu)783CACNB2Uncertain significance-1RCV000707451; NMedGen:C2678477,OMIM:611876101878737418787374-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.275A>G (p.Asp92Gly)783CACNB2Uncertain significance1554831392RCV000646199; NMedGen:C2678477,OMIM:611876101878738718787387-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.280C>G (p.Leu94Val)783CACNB2Uncertain significance1554831400RCV000646205; NMedGen:C2678477,OMIM:611876101878739218787392-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.295-17T>G783CACNB2Benign4485000RCV000615336; RCV000253486; NMedGen:C2678477,OMIM:611876; MedGen:CN169374101878972418789724-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.323G>A (p.Arg108Gln)783CACNB2Uncertain significance144461906RCV000542174; RCV000619491; NMedGen:C2678477,OMIM:611876; MedGen:CN230736101878976918789769-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.382A>G (p.Met128Val)783CACNB2Uncertain significance775466397RCV000590945; RCV000471885; RCV000619640; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736101878982818789828-C1142166 Brugada syndrome;
NM_000724.3(CACNB2):c.425C>T (p.Ser142Phe)783CACNB2Conflicting interpretations of pathogenicity150528041RCV000148448; RCV000203754; RCV000617381; RCV000170864; RCV000185499; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202; MedGen:CN169374101878987418789874-C1142166 Brugada syndrome;
NM_000724.3(CACNB2):c.476G>C (p.Ser159Thr)783CACNB2Conflicting interpretations of pathogenicity149253719RCV000206260; RCV000619766; RCV000148449; RCV000170855; RCV000185497; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:C3150852,OMIM:613601; MedGen:CN517202; MedGen:CN169374101879544718795447-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.505T>A (p.Ser169Thr)783CACNB2Uncertain significance-1RCV000694906; NMedGen:C2678477,OMIM:611876101879547318795473-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.524C>A (p.Ala175Asp)783CACNB2Uncertain significance-1RCV000696115; NMedGen:C2678477,OMIM:611876101880318018803180-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.548A>C (p.Asn183Thr)783CACNB2Uncertain significance1554835149RCV000646202; NMedGen:C2678477,OMIM:611876101880320418803204-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.643-3C>T783CACNB2Uncertain significance764050459RCV000547960; NMedGen:C2678477,OMIM:611876101880726218807262-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.711G>A (p.Leu237=)783CACNB2Conflicting interpretations of pathogenicity138423466RCV000290442; RCV000197803; RCV000248968; RCV000180025; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101880733318807333-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.750G>A (p.Leu250=)783CACNB2Likely benign1246608729RCV000646209; NMedGen:C2678477,OMIM:611876101880786518807865-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.753T>C (p.Phe251=)783CACNB2Benign/Likely benign149586418RCV000474395; RCV000617740; RCV000170856; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101880786818807868-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.805G>A (p.Ala269Thr)783CACNB2Uncertain significance561197163RCV000646207; NMedGen:C2678477,OMIM:611876101881653918816539-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.831G>A (p.Ser277=)783CACNB2Conflicting interpretations of pathogenicity76956014RCV000381260; RCV000228064; RCV000249791; RCV000589174; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202101881656518816565-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.832G>T (p.Val278Leu)783CACNB2Uncertain significance369543094RCV000646198; NMedGen:C2678477,OMIM:611876101881656618816566-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.855C>T (p.His285=)783CACNB2Likely benign747015946RCV000646214; NMedGen:C2678477,OMIM:611876101881658918816589-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.856G>A (p.Ala286Thr)783CACNB2Uncertain significance-1RCV000695562; NMedGen:C2678477,OMIM:611876101881659018816590-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.863T>C (p.Ile288Thr)783CACNB2Uncertain significance778426010RCV000463220; NMedGen:C2678477,OMIM:611876101881659718816597-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.893C>T (p.Ala298Val)783CACNB2Uncertain significance144367884RCV000646197; NMedGen:C2678477,OMIM:611876101882300518823005-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.914A>G (p.Glu305Gly)783CACNB2Uncertain significance148674271RCV000463627; NMedGen:C2678477,OMIM:611876101882302618823026-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.962C>T (p.Ala321Val)783CACNB2Uncertain significance-1RCV000697864; NMedGen:C2678477,OMIM:611876101882307418823074-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1016T>C (p.Ile339Thr)783CACNB2Uncertain significance139749312RCV000234746; RCV000620776; NMedGen:C2678477,OMIM:611876; MedGen:CN230736101882312818823128-C2678477 611876 Brugada syndrome 4;
NM_201571.3(CACNB2):c.1122+3A>T783CACNB2Uncertain significance200174877RCV000547052; RCV000157132; RCV000243739; NMedGen:C2678477,OMIM:611876; Human Phenotype Ontology:HP:0001695,MedGen:C0018790; MedGen:CN230736101882315918823159-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA783CACNB2Conflicting interpretations of pathogenicity1456201116RCV000464104; RCV000170857; RCV000208344; RCV000171627; NMedGen:C2678477,OMIM:611876; MedGen:C0003811,OMIM:115000; MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007; MedGen:CN517202101882316018823163-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1044+6T>C783CACNB2Benign/Likely benign147857449RCV000311708; RCV000463017; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876101882316218823162-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1045G>A (p.Val349Ile)783CACNB2Uncertain significance-1RCV000697496; NMedGen:C2678477,OMIM:611876101882503018825030-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1131G>A (p.Gln377=)783CACNB2Benign148414498RCV000460840; NMedGen:C2678477,OMIM:611876101882511618825116-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1152T>C (p.Asp384=)783CACNB2Likely benign878855310RCV000227463; NMedGen:C2678477,OMIM:611876101882712018827120-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1195C>T (p.Leu399Phe)783CACNB2Uncertain significance145638628RCV000697431; RCV000455800; NMedGen:C2678477,OMIM:611876; MedGen:CN169374101882716318827163-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1227C>A (p.Ala409=)783CACNB2Likely benign1554842250RCV000646217; NMedGen:C2678477,OMIM:611876101882719518827195-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1270C>T (p.Arg424Cys)783CACNB2Uncertain significance551742573RCV000198726; NMedGen:C2678477,OMIM:611876101882723818827238-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1302C>T (p.Ser434=)783CACNB2Likely benign1060504915RCV000457481; NMedGen:C2678477,OMIM:611876101882727018827270-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1326+6G>A783CACNB2Uncertain significance966376165RCV000646210; NMedGen:C2678477,OMIM:611876101882730018827300-C2678477 611876 Brugada syndrome 4;
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile)783CACNB2Conflicting interpretations of pathogenicity143326262RCV000148450; RCV000231277; RCV000251462; RCV000170869; RCV000185500; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202; MedGen:CN169374101882818118828181-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1354C>T (p.Arg452Cys)783CACNB2Uncertain significance111250176RCV000297236; RCV000557766; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876101882818618828186-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1356C>T (p.Arg452=)783CACNB2Benign/Likely benign34813638RCV000361357; RCV000205522; RCV000621934; RCV000587534; RCV000124108; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202; MedGen:CN169374101882818818828188-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1359C>T (p.Ser453=)783CACNB2Benign/Likely benign143060134RCV000234144; RCV000243143; NMedGen:C2678477,OMIM:611876; MedGen:CN230736101882819118828191-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1370G>A (p.Arg457His)783CACNB2Uncertain significance1039406883RCV000475457; NMedGen:C2678477,OMIM:611876101882820218828202-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1377T>C (p.Ala459=)783CACNB2Likely benign191856144RCV000646218; NMedGen:C2678477,OMIM:611876101882820918828209-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1391A>C (p.Glu464Ala)783CACNB2Conflicting interpretations of pathogenicity138060429RCV000536080; RCV000244354; RCV000170871; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101882822318828223-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1398T>C (p.Pro466=)783CACNB2Conflicting interpretations of pathogenicity150280879RCV000266435; RCV000469061; RCV000241586; RCV000124109; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101882823018828230-C1142166 Brugada syndrome;
NM_000724.3(CACNB2):c.1426C>T (p.Arg476Cys)783CACNB2Conflicting interpretations of pathogenicity202152674RCV000417288; RCV000546282; RCV000619934; RCV000498848; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202101882826118828261-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1430G>A (p.Arg477His)783CACNB2Conflicting interpretations of pathogenicity184280124RCV000646213; RCV000618110; RCV000170872; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202101882826218828262-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1442C>T (p.Ser481Leu)783CACNB2Pathogenic121917812RCV000010155; NMedGen:C2678477,OMIM:611876101882827418828274OMIM Allelic Variant:600003.0001C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1462C>T (p.Arg488Cys)783CACNB2Uncertain significance750387227RCV000646203; NMedGen:C2678477,OMIM:611876101882829418828294-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1477C>T (p.Arg493Cys)783CACNB2Uncertain significance774654438RCV000646201; NMedGen:C2678477,OMIM:611876101882830918828309-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1503T>G (p.Phe501Leu)783CACNB2Uncertain significance878855311RCV000228679; NMedGen:C2678477,OMIM:611876101882833518828335-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1508C>T (p.Ser503Leu)783CACNB2Conflicting interpretations of pathogenicity137886839RCV000302802; RCV000458519; RCV000245105; RCV000170874; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101882834018828340-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1519G>A (p.Glu507Lys)783CACNB2Uncertain significance-1RCV000697967; NMedGen:C2678477,OMIM:611876101882835118828351-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1526G>A (p.Arg509Gln)783CACNB2Likely benign766377211RCV000556414; NMedGen:C2678477,OMIM:611876101882835818828358-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1534G>A (p.Ala512Thr)783CACNB2Conflicting interpretations of pathogenicity202218948RCV000535223; RCV000170875; RCV000185501; NMedGen:C2678477,OMIM:611876; MedGen:CN517202; MedGen:CN169374101882836618828366-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1540G>A (p.Val514Ile)783CACNB2Uncertain significance142639223RCV000703877; RCV000170858; NMedGen:C2678477,OMIM:611876; MedGen:CN517202101882837218828372-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1585G>C (p.Ala529Pro)783CACNB2Uncertain significance373826838RCV000646206; NMedGen:C2678477,OMIM:611876101882841718828417-C2678477 611876 Brugada syndrome 4;
NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu)783CACNB2Conflicting interpretations of pathogenicity144182966RCV000148451; RCV000231525; RCV000619292; RCV000170876; RCV000185502; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202; MedGen:CN169374101882844618828446-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1614C>T (p.Asp538=)783CACNB2Likely benign144182966RCV000476526; NMedGen:C2678477,OMIM:611876101882844618828446-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1623C>T (p.His541=)783CACNB2Benign/Likely benign61733967RCV000363828; RCV000206606; RCV000620127; RCV000585972; RCV000124110; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202; MedGen:CN169374101882845518828455-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1632T>C (p.Ser544=)783CACNB2Benign/Likely benign34503140RCV000269229; RCV000468531; RCV000620685; RCV000755890; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202101882846418828464-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1635C>T (p.Asp545=)783CACNB2Likely benign1060504914RCV000467488; NMedGen:C2678477,OMIM:611876101882846718828467-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1654C>T (p.Arg552Trp)783CACNB2Conflicting interpretations of pathogenicity61733968RCV000646216; RCV000170881; NMedGen:C2678477,OMIM:611876; MedGen:CN517202101882848618828486-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1654C>G (p.Arg552Gly)783CACNB2Conflicting interpretations of pathogenicity61733968RCV000333626; RCV000234242; RCV000619181; RCV000171804; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101882848618828486-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1660C>T (p.Arg554Cys)783CACNB2Uncertain significance994878062RCV000646200; NMedGen:C2678477,OMIM:611876101882849218828492-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1666C>T (p.Arg556Trp)783CACNB2Uncertain significance545095722RCV000477754; RCV000621687; RCV000588292; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN517202101882849818828498-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1671C>T (p.Asp557=)783CACNB2Likely benign777607595RCV000475108; NMedGen:C2678477,OMIM:611876101882850318828503-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1689_1697dupCCACAACGA (p.Asn565_Glu566insAspHisAsn)783CACNB2Uncertain significance1554843116RCV000470276; NMedGen:C2678477,OMIM:611876101882852118828529-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1696G>A (p.Glu566Lys)783CACNB2Uncertain significance761643494RCV000550115; NMedGen:C2678477,OMIM:611876101882852818828528-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1712G>A (p.Arg571His)783CACNB2Uncertain significance772911828RCV000646208; NMedGen:C2678477,OMIM:611876101882854418828544-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1736G>A (p.Arg579His)783CACNB2Uncertain significance780045364RCV000534004; NMedGen:C2678477,OMIM:611876101882856818828568-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1751A>G (p.Asp584Gly)783CACNB2Uncertain significance-1RCV000702021; NMedGen:C2678477,OMIM:611876101882858318828583-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1752T>C (p.Asp584=)783CACNB2Likely benign1554843214RCV000646215; NMedGen:C2678477,OMIM:611876101882858418828584-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1763T>C (p.Ile588Thr)783CACNB2Uncertain significance1554843232RCV000549209; NMedGen:C2678477,OMIM:611876101882859518828595-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1773A>G (p.Lys591=)783CACNB2Likely benign772752419RCV000465156; RCV000618611; RCV000610180; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101882860518828605-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.1774C>T (p.Arg592Trp)783CACNB2Uncertain significance546669133RCV000387951; RCV000764884; RCV000486501; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN169374101882860618828606-C1142166 Brugada syndrome;
NM_201590.2(CACNB2):c.1813C>T (p.Arg605Cys)783CACNB2Likely benign77141223RCV000461914; RCV000620280; RCV000170859; NMedGen:C2678477,OMIM:611876; MedGen:CN230736; MedGen:CN169374101882864518828645-C2678477 611876 Brugada syndrome 4;
NM_201590.2(CACNB2):c.*10G>T783CACNB2Benign/Likely benign4747352RCV000281086; RCV000195586; RCV000249061; NMedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C2678477,OMIM:611876; MedGen:CN169374101882866318828663-C1142166 Brugada syndrome;
NM_000724.3(CACNB2):c.*18delT783CACNB2Benign34022725RCV000625137; NMedGen:C2678477,OMIM:611876101882867118828671-C2678477 611876 Brugada syndrome 4;
MSeqDR Portal