| - GRCh37:
- Chr3:94991-41423012
- GRCh38:
- Chr3:53308-41381521
| ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CCR8, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, CSRNP1, CTDSPL, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GOLGA4, GOLGA4-AS1, GORASP1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITGA9, ITGA9-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121009658, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC121725140, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC122889073, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC126806655, LOC126806656, LOC126806657, LOC126806658, LOC126806659, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR6822, MIR885, MKRN2, MKRN2OS, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, OXTR, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL14, SCN10A, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN11A, SCN5A, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA6, SNORA62, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTC21A, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, ULK4, VGLL4, VHL, VILL, WDR48, WNT7A, XIRP1, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF619, ZNF620, ZNF621, ZNF860 | | See cases | Pathogenic (Jun 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:11504802-38961034
- GRCh38:
- Chr3:11463328-38919543
| ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARPP21, ATG7, AZI2, BALR6, BTD, C3orf20, CAND2, CAPN7, CCDC174, CCR4, CHCHD4, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, COLQ, CRTAP, CTDSPL, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EFHB, EOMES, EPM2AIP1, EXOG, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GLB1, GOLGA4, GOLGA4-AS1, GPD1L, GRIP2, HACL1, HDAC11, HDAC11-AS1, IQSEC1, ITGA9, ITGA9-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107457584, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365150, LOC111365223, LOC111465007, LOC111465009, LOC111501778, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC114803475, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LRRC3B, LRRC3B-AS1, LRRFIP2, LSM3, METTL6, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4442, MIR466, MIR4791, MIR4792, MIR548AY, MIR563, MKRN2, MKRN2OS, MLH1, MRPS25, MYD88, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, RAB5A, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, SATB1, SATB1-AS1, SCN10A, SCN11A, SCN5A, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC4A7, SLC6A6, SNORA7A, SNORA93, STAC, STT3B, SUSD5, SYN2, TAMM41, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TSEN2, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VILL, WNT7A, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:33769898-40703942
- GRCh38:
- Chr3:33728406-40662451
| ACAA1, ACVR2B, ACVR2B-AS1, APRG1, ARPP21, CCR8, CSRNP1, CTDSPL, CX3CR1, DCLK3, DLEC1, EIF1B, EIF1B-AS1, ENTPD3, ENTPD3-AS1, EPM2AIP1, EXOG, GOLGA4, GOLGA4-AS1, GORASP1, ITGA9, ITGA9-AS1, LINC01811, LINC02033, LOC101928135, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111465007, LOC112935929, LOC112935930, LOC112935933, LOC115995508, LOC115995509, LOC120285841, LOC121009656, LOC121009657, LOC121009658, LOC121725139, LOC121725140, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LRRFIP2, MIR128-2, MIR26A1, MIR6822, MLH1, MOBP, MYD88, MYRIP, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, RPL14, RPSA, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, SLC25A38, SNORA6, SNORA62, STAC, TRANK1, TTC21A, VILL, WDR48, XIRP1, XYLB, ZNF619, ZNF620, ZNF621 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:37493856-38991863
- GRCh38:
- Chr3:37452365-38950372
| MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, ACAA1, ACVR2B, ACVR2B-AS1, CTDSPL, DLEC1, EXOG, ITGA9, ITGA9-AS1, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111465007, LOC112935929, LOC112935930, LOC120285841, LOC121725139, LOC122889068, LOC122889069, LOC126806651, LOC126806652, MIR26A1, SLC22A14, VILL, XYLB | | Brugada syndrome | Pathogenic (Oct 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518768-38674808
- GRCh38:
- Chr3:38477277-38633317
| LOC110121287, EXOG, LOC110121269, LOC110121286, ACVR2B, SCN5A | | Brugada syndrome | Uncertain significance (Aug 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589553-38674850
- GRCh38:
- Chr3:38548062-38633359
| LOC110121269, SCN5A | | Brugada syndrome | Uncertain significance (Oct 25, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589553-38593049
- GRCh38:
- Chr3:38548062-38551558
| SCN5A | | Brugada syndrome | Likely pathogenic (Sep 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589663
- GRCh38:
- Chr3:38548172
| SCN5A | | Congenital long QT syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589666-38589667
- GRCh38:
- Chr3:38548175-38548176
| SCN5A | | Congenital long QT syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589677
- GRCh38:
- Chr3:38548186
| SCN5A | | Congenital long QT syndrome, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589805
- GRCh38:
- Chr3:38548314
| SCN5A | | Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589843
- GRCh38:
- Chr3:38548352
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Long QT syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589869
- GRCh38:
- Chr3:38548378
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Long QT syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589880
- GRCh38:
- Chr3:38548389
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589928
- GRCh38:
- Chr3:38548437
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E
| Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589969
- GRCh38:
- Chr3:38548478
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589976
- GRCh38:
- Chr3:38548485
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Progressive familial heart block, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589992
- GRCh38:
- Chr3:38548501
| SCN5A | | Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590010
- GRCh38:
- Chr3:38548519
| SCN5A | | Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590068
- GRCh38:
- Chr3:38548577
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Long QT syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590069
- GRCh38:
- Chr3:38548578
| SCN5A | | Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Brugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590081
- GRCh38:
- Chr3:38548590
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Long QT syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590107
- GRCh38:
- Chr3:38548616
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Long QT syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590111
- GRCh38:
- Chr3:38548620
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Long QT syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590121
- GRCh38:
- Chr3:38548630
| SCN5A | | Congenital long QT syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590139
- GRCh38:
- Chr3:38548648
| SCN5A | | Congenital long QT syndrome, Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590210
- GRCh38:
- Chr3:38548719
| SCN5A | | Congenital long QT syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Brugada syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590244
- GRCh38:
- Chr3:38548753
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590257
- GRCh38:
- Chr3:38548766
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590275
- GRCh38:
- Chr3:38548784
| SCN5A | | Congenital long QT syndrome, not provided, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A | Benign/Likely benign (May 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38590316
- GRCh38:
- Chr3:38548825
| SCN5A | | Congenital long QT syndrome, not provided, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A | Conflicting interpretations of pathogenicity (May 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590358-38590359
- GRCh38:
- Chr3:38548867-38548868
| SCN5A | | Congenital long QT syndrome, Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, not provided, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome | Benign/Likely benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38590369
- GRCh38:
- Chr3:38548878
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Brugada syndrome, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590398
- GRCh38:
- Chr3:38548907
| SCN5A | | Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Conflicting interpretations of pathogenicity (Mar 14, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590422
- GRCh38:
- Chr3:38548931
| SCN5A | | Congenital long QT syndrome, Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590528
- GRCh38:
- Chr3:38549037
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A
| Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590611
- GRCh38:
- Chr3:38549120
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590646
- GRCh38:
- Chr3:38549155
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590647
- GRCh38:
- Chr3:38549156
| SCN5A | | Congenital long QT syndrome, Long QT syndrome 3, not provided, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A | Benign/Likely benign (May 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38590648
- GRCh38:
- Chr3:38549157
| SCN5A | | Congenital long QT syndrome, Long QT syndrome 3, not provided, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A | Conflicting interpretations of pathogenicity (May 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590661
- GRCh38:
- Chr3:38549170
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3
| Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590725
- GRCh38:
- Chr3:38549234
| SCN5A | | Long QT syndrome 3, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590738
- GRCh38:
- Chr3:38549247
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590752
- GRCh38:
- Chr3:38549261
| SCN5A | | Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590754
- GRCh38:
- Chr3:38549263
| SCN5A | | Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Brugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590764
- GRCh38:
- Chr3:38549273
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590822
- GRCh38:
- Chr3:38549331
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590832
- GRCh38:
- Chr3:38549341
| SCN5A | | Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Congenital long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590849
- GRCh38:
- Chr3:38549358
| SCN5A | | Congenital long QT syndrome, not provided, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3 | Benign/Likely benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38590850
- GRCh38:
- Chr3:38549359
| SCN5A | | Long QT syndrome 3, Congenital long QT syndrome, not provided, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1 | Benign/Likely benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38590867
- GRCh38:
- Chr3:38549376
| SCN5A | | Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Congenital long QT syndrome, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590892
- GRCh38:
- Chr3:38549401
| SCN5A | | Long QT syndrome 3, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590923
- GRCh38:
- Chr3:38549432
| SCN5A | | Long QT syndrome 3, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591059
- GRCh38:
- Chr3:38549568
| SCN5A | | Long QT syndrome 3, Congenital long QT syndrome, not provided, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Benign/Likely benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591065
- GRCh38:
- Chr3:38549574
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591087
- GRCh38:
- Chr3:38549596
| SCN5A | | Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Congenital long QT syndrome, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591107
- GRCh38:
- Chr3:38549616
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591124
- GRCh38:
- Chr3:38549633
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Progressive familial heart block, type 1A
| Uncertain significance (Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591135
- GRCh38:
- Chr3:38549644
| SCN5A | | Progressive familial heart block, type 1A, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Long QT syndrome 3 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591149
- GRCh38:
- Chr3:38549658
| SCN5A | | Progressive familial heart block, type 1A, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Long QT syndrome 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591150
- GRCh38:
- Chr3:38549659
| SCN5A | | Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591153
- GRCh38:
- Chr3:38549662
| SCN5A | | Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Brugada syndrome 1
| Uncertain significance (Sep 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591178
- GRCh38:
- Chr3:38549687
| SCN5A | | Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Congenital long QT syndrome, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591198
- GRCh38:
- Chr3:38549707
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, not provided, Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3 | Benign/Likely benign (May 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591225
- GRCh38:
- Chr3:38549734
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591296
- GRCh38:
- Chr3:38549805
| SCN5A | | Brugada syndrome, Progressive familial heart block, Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591326
- GRCh38:
- Chr3:38549835
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591337
- GRCh38:
- Chr3:38549846
| SCN5A | | Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591430
- GRCh38:
- Chr3:38549939
| SCN5A | | Congenital long QT syndrome, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1EVentricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3, ...see more | Uncertain significance (Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591481
- GRCh38:
- Chr3:38549990
| SCN5A | | Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591516
- GRCh38:
- Chr3:38550025
| SCN5A | | Brugada syndrome, Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Congenital long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591522
- GRCh38:
- Chr3:38550031
| SCN5A | | Progressive familial heart block, type 1A, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591608
- GRCh38:
- Chr3:38550117
| SCN5A | | Congenital long QT syndrome, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1ELong QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1, ...see more | Uncertain significance (Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591652
- GRCh38:
- Chr3:38550161
| SCN5A | | Progressive familial heart block, type 1A, Congenital long QT syndrome, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591653
- GRCh38:
- Chr3:38550162
| SCN5A | | Progressive familial heart block, type 1A, Congenital long QT syndrome, not provided, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1 | Benign/Likely benign (Jun 19, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591681
- GRCh38:
- Chr3:38550190
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591689
- GRCh38:
- Chr3:38550198
| SCN5A | | Congenital long QT syndrome, not provided, Progressive familial heart block, type 1A, Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1 | Benign/Likely benign (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591739
- GRCh38:
- Chr3:38550248
| SCN5A | | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Progressive familial heart block, Brugada syndrome, Long QT syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591792-38835521
- GRCh38:
- Chr3:38550301-38794030
| LOC110121269, LOC110121288, SCN10A, SCN5A | | Brugada syndrome | Pathogenic (Oct 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591806
- GRCh38:
- Chr3:38550315
| SCN5A | | Cardiac arrhythmia, not provided | Likely benign (Nov 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591806
- GRCh38:
- Chr3:38550315
| SCN5A | | Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Long QT syndrome, Brugada syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591807
- GRCh38:
- Chr3:38550316
| SCN5A | | not provided | Likely benign (Jul 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591811
- GRCh38:
- Chr3:38550320
| SCN5A | | not provided, Cardiac arrhythmia, not specified
| Conflicting interpretations of pathogenicity (May 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591813
- GRCh38:
- Chr3:38550322
| SCN5A | | Brugada syndrome | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591813
- GRCh38:
- Chr3:38550322
| SCN5A | | Brugada syndrome, Cardiac arrhythmia | Conflicting interpretations of pathogenicity (Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591815-38591816
- GRCh38:
- Chr3:38550324-38550325
| SCN5A | | Brugada syndrome | Uncertain significance (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591815
- GRCh38:
- Chr3:38550324
| SCN5A | | Familial isolated arrhythmogenic right ventricular dysplasia | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591817
- GRCh38:
- Chr3:38550326
| SCN5A | V2015M, V2016M, V1998M, V1997M, V1962M, V1983M | Cardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1, Brugada syndrome, not provided, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3Brugada syndrome 1, ...see more | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591818
- GRCh38:
- Chr3:38550327
| SCN5A | | Brugada syndrome | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591828
- GRCh38:
- Chr3:38550337
| SCN5A | R1958H, R1979H, R1993H, R1994H, R2011H, R2012H | Cardiovascular phenotype, Brugada syndrome | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591829
- GRCh38:
- Chr3:38550338
| SCN5A | R2011C, R2012C, R1993C, R1994C, R1958C, R1979C | Cardiovascular phenotype, Cardiac arrhythmia, Atrial fibrillation, familial, 10, Brugada syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndromeLong QT syndrome 3, ...see more | Uncertain significance (Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591830
- GRCh38:
- Chr3:38550339
| SCN5A | D2011E, D2010E, D1978E, D1957E, D1992E, D1993E | Paroxysmal familial ventricular fibrillation, Congenital long QT syndrome, Progressive familial heart block, Long QT syndrome, Brugada syndrome, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591833
- GRCh38:
- Chr3:38550342
| SCN5A | R1977S, R1992S, R1956S, R2009S, R1991S, R2010S | Brugada syndrome | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591833
- GRCh38:
- Chr3:38550342
| SCN5A | | Cardiac arrhythmia, Brugada syndrome, not specified
| Likely benign (Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591835
- GRCh38:
- Chr3:38550344
| SCN5A | R1977G, R1992G, R1956G, R1991G, R2009G, R2010G | Cardiac arrhythmia, Brugada syndrome | Uncertain significance (Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591836
- GRCh38:
- Chr3:38550345
| SCN5A | D1990E, D1955E, D1976E, D1991E, D2008E, D2009E | Cardiac arrhythmia, not specified, Brugada syndrome
| Uncertain significance (Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591839
- GRCh38:
- Chr3:38550348
| SCN5A | | Cardiac arrhythmia, Brugada syndrome | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591840
- GRCh38:
- Chr3:38550349
| SCN5A | P2007L, P2008L, P1989L, P1990L, P1954L, P1975L | Brugada syndrome, Cardiac arrhythmia | Uncertain significance (Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591845-38591846
- GRCh38:
- Chr3:38550354-38550355
| SCN5A | S2006fs, S1953fs, S1974fs, S1988fs, S1989fs, S2007fs | Brugada syndrome | Uncertain significance (Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591846
- GRCh38:
- Chr3:38550355
| SCN5A | P1952fs, P1973fs, P1987fs, P1988fs, P2005fs, P2006fs | Brugada syndrome, Dilated cardiomyopathy 1E | Uncertain significance (Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |