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Items: 1 to 100 of 3481

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr3:33769898-40703942
GRCh38:
Chr3:33728406-40662451
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
GRCh37:
Chr3:37493856-38991863
GRCh38:
Chr3:37452365-38950372
Brugada syndromePathogenic
(Oct 1, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr3:38518768-38674808
GRCh38:
Chr3:38477277-38633317
LOC110121287, EXOG, LOC110121269, LOC110121286, ACVR2B, SCN5ABrugada syndromeUncertain significance
(Aug 29, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr3:38589553-38674850
GRCh38:
Chr3:38548062-38633359
LOC110121269, SCN5ABrugada syndromeUncertain significance
(Oct 25, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:38589553-38593049
GRCh38:
Chr3:38548062-38551558
SCN5ABrugada syndromeLikely pathogenic
(Sep 23, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr3:38589663
GRCh38:
Chr3:38548172
SCN5ACongenital 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
9.
GRCh37:
Chr3:38589666-38589667
GRCh38:
Chr3:38548175-38548176
SCN5ACongenital 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
10.
GRCh37:
Chr3:38589677
GRCh38:
Chr3:38548186
SCN5ACongenital 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
11.
GRCh37:
Chr3:38589805
GRCh38:
Chr3:38548314
SCN5AProgressive 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
12.
GRCh37:
Chr3:38589843
GRCh38:
Chr3:38548352
SCN5AParoxysmal 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
13.
GRCh37:
Chr3:38589869
GRCh38:
Chr3:38548378
SCN5AParoxysmal 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
14.
GRCh37:
Chr3:38589880
GRCh38:
Chr3:38548389
SCN5ACongenital 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
15.
GRCh37:
Chr3:38589928
GRCh38:
Chr3:38548437
SCN5ASick 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
16.
GRCh37:
Chr3:38589969
GRCh38:
Chr3:38548478
SCN5ASick 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
17.
GRCh37:
Chr3:38589976
GRCh38:
Chr3:38548485
SCN5AParoxysmal 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
18.
GRCh37:
Chr3:38589992
GRCh38:
Chr3:38548501
SCN5AVentricular 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
19.
GRCh37:
Chr3:38590010
GRCh38:
Chr3:38548519
SCN5AProgressive 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
20.
GRCh37:
Chr3:38590068
GRCh38:
Chr3:38548577
SCN5AParoxysmal 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
21.
GRCh37:
Chr3:38590069
GRCh38:
Chr3:38548578
SCN5AVentricular 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
22.
GRCh37:
Chr3:38590081
GRCh38:
Chr3:38548590
SCN5AParoxysmal 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
23.
GRCh37:
Chr3:38590107
GRCh38:
Chr3:38548616
SCN5AParoxysmal 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
24.
GRCh37:
Chr3:38590111
GRCh38:
Chr3:38548620
SCN5AParoxysmal 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
25.
GRCh37:
Chr3:38590121
GRCh38:
Chr3:38548630
SCN5ACongenital 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
26.
GRCh37:
Chr3:38590139
GRCh38:
Chr3:38548648
SCN5ACongenital 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
27.
GRCh37:
Chr3:38590210
GRCh38:
Chr3:38548719
SCN5ACongenital 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
28.
GRCh37:
Chr3:38590244
GRCh38:
Chr3:38548753
SCN5ACongenital 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
29.
GRCh37:
Chr3:38590257
GRCh38:
Chr3:38548766
SCN5ASick 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
30.
GRCh37:
Chr3:38590275
GRCh38:
Chr3:38548784
SCN5ACongenital 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
31.
GRCh37:
Chr3:38590316
GRCh38:
Chr3:38548825
SCN5ACongenital 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
32.
GRCh37:
Chr3:38590358-38590359
GRCh38:
Chr3:38548867-38548868
SCN5ACongenital 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
33.
GRCh37:
Chr3:38590369
GRCh38:
Chr3:38548878
SCN5AParoxysmal 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
34.
GRCh37:
Chr3:38590398
GRCh38:
Chr3:38548907
SCN5ADilated 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
35.
GRCh37:
Chr3:38590422
GRCh38:
Chr3:38548931
SCN5ACongenital 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
36.
GRCh37:
Chr3:38590528
GRCh38:
Chr3:38549037
SCN5ASick 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
37.
GRCh37:
Chr3:38590611
GRCh38:
Chr3:38549120
SCN5ASick 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
38.
GRCh37:
Chr3:38590646
GRCh38:
Chr3:38549155
SCN5ASick 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
39.
GRCh37:
Chr3:38590647
GRCh38:
Chr3:38549156
SCN5ACongenital 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
40.
GRCh37:
Chr3:38590648
GRCh38:
Chr3:38549157
SCN5ACongenital 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
41.
GRCh37:
Chr3:38590661
GRCh38:
Chr3:38549170
SCN5ASick 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
42.
GRCh37:
Chr3:38590725
GRCh38:
Chr3:38549234
SCN5ALong 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
43.
GRCh37:
Chr3:38590738
GRCh38:
Chr3:38549247
SCN5ACongenital 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
44.
GRCh37:
Chr3:38590752
GRCh38:
Chr3:38549261
SCN5ADilated 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
45.
GRCh37:
Chr3:38590754
GRCh38:
Chr3:38549263
SCN5AVentricular 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
46.
GRCh37:
Chr3:38590764
GRCh38:
Chr3:38549273
SCN5ACongenital 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
47.
GRCh37:
Chr3:38590822
GRCh38:
Chr3:38549331
SCN5ACongenital 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
48.
GRCh37:
Chr3:38590832
GRCh38:
Chr3:38549341
SCN5ABrugada 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
49.
GRCh37:
Chr3:38590849
GRCh38:
Chr3:38549358
SCN5ACongenital 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
50.
GRCh37:
Chr3:38590850
GRCh38:
Chr3:38549359
SCN5ALong 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
51.
GRCh37:
Chr3:38590867
GRCh38:
Chr3:38549376
SCN5ABrugada 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
52.
GRCh37:
Chr3:38590892
GRCh38:
Chr3:38549401
SCN5ALong 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
53.
GRCh37:
Chr3:38590923
GRCh38:
Chr3:38549432
SCN5ALong 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
54.
GRCh37:
Chr3:38591059
GRCh38:
Chr3:38549568
SCN5ALong 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
55.
GRCh37:
Chr3:38591065
GRCh38:
Chr3:38549574
SCN5ACongenital 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
56.
GRCh37:
Chr3:38591087
GRCh38:
Chr3:38549596
SCN5ABrugada 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
57.
GRCh37:
Chr3:38591107
GRCh38:
Chr3:38549616
SCN5ACongenital 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
58.
GRCh37:
Chr3:38591124
GRCh38:
Chr3:38549633
SCN5ASick 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
59.
GRCh37:
Chr3:38591135
GRCh38:
Chr3:38549644
SCN5AProgressive 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
60.
GRCh37:
Chr3:38591149
GRCh38:
Chr3:38549658
SCN5AProgressive 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
61.
GRCh37:
Chr3:38591150
GRCh38:
Chr3:38549659
SCN5ADilated 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
62.
GRCh37:
Chr3:38591153
GRCh38:
Chr3:38549662
SCN5ASick 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
63.
GRCh37:
Chr3:38591178
GRCh38:
Chr3:38549687
SCN5ABrugada 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
64.
GRCh37:
Chr3:38591198
GRCh38:
Chr3:38549707
SCN5ASick 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
65.
GRCh37:
Chr3:38591225
GRCh38:
Chr3:38549734
SCN5ASick 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
66.
GRCh37:
Chr3:38591296
GRCh38:
Chr3:38549805
SCN5ABrugada 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
67.
GRCh37:
Chr3:38591326
GRCh38:
Chr3:38549835
SCN5ACongenital 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
68.
GRCh37:
Chr3:38591337
GRCh38:
Chr3:38549846
SCN5AProgressive 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
69.
GRCh37:
Chr3:38591430
GRCh38:
Chr3:38549939
SCN5ACongenital 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
70.
GRCh37:
Chr3:38591481
GRCh38:
Chr3:38549990
SCN5ACongenital 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
71.
GRCh37:
Chr3:38591516
GRCh38:
Chr3:38550025
SCN5ABrugada 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
72.
GRCh37:
Chr3:38591522
GRCh38:
Chr3:38550031
SCN5AProgressive 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
73.
GRCh37:
Chr3:38591608
GRCh38:
Chr3:38550117
SCN5ACongenital 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
74.
GRCh37:
Chr3:38591652
GRCh38:
Chr3:38550161
SCN5AProgressive 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
75.
GRCh37:
Chr3:38591653
GRCh38:
Chr3:38550162
SCN5AProgressive 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
76.
GRCh37:
Chr3:38591681
GRCh38:
Chr3:38550190
SCN5ASick 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
77.
GRCh37:
Chr3:38591689
GRCh38:
Chr3:38550198
SCN5ACongenital 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
78.
GRCh37:
Chr3:38591739
GRCh38:
Chr3:38550248
SCN5AParoxysmal 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
79.
GRCh37:
Chr3:38591792-38835521
GRCh38:
Chr3:38550301-38794030
LOC110121269, LOC110121288, SCN10A, SCN5ABrugada syndromePathogenic
(Oct 4, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr3:38591806
GRCh38:
Chr3:38550315
SCN5ACardiac arrhythmia, not providedLikely benign
(Nov 9, 2018)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:38591806
GRCh38:
Chr3:38550315
SCN5AParoxysmal 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
82.
GRCh37:
Chr3:38591807
GRCh38:
Chr3:38550316
SCN5Anot providedLikely benign
(Jul 11, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr3:38591811
GRCh38:
Chr3:38550320
SCN5Anot provided, Cardiac arrhythmia, not specified
Conflicting interpretations of pathogenicity
(May 3, 2021)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr3:38591813
GRCh38:
Chr3:38550322
SCN5ABrugada syndromeUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr3:38591813
GRCh38:
Chr3:38550322
SCN5ABrugada syndrome, Cardiac arrhythmiaConflicting interpretations of pathogenicity
(Aug 27, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr3:38591815-38591816
GRCh38:
Chr3:38550324-38550325
SCN5ABrugada syndromeUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:38591815
GRCh38:
Chr3:38550324
SCN5AFamilial isolated arrhythmogenic right ventricular dysplasiaPathogeniccriteria provided, single submitter
88.
GRCh37:
Chr3:38591817
GRCh38:
Chr3:38550326
SCN5AV2015M, V2016M, V1998M, V1997M, V1962M, V1983MCardiovascular 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
89.
GRCh37:
Chr3:38591818
GRCh38:
Chr3:38550327
SCN5ABrugada syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:38591828
GRCh38:
Chr3:38550337
SCN5AR1958H, R1979H, R1993H, R1994H, R2011H, R2012HCardiovascular phenotype, Brugada syndromeUncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:38591829
GRCh38:
Chr3:38550338
SCN5AR2011C, R2012C, R1993C, R1994C, R1958C, R1979CCardiovascular 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
92.
GRCh37:
Chr3:38591830
GRCh38:
Chr3:38550339
SCN5AD2011E, D2010E, D1978E, D1957E, D1992E, D1993EParoxysmal 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
93.
GRCh37:
Chr3:38591833
GRCh38:
Chr3:38550342
SCN5AR1977S, R1992S, R1956S, R2009S, R1991S, R2010SBrugada syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr3:38591833
GRCh38:
Chr3:38550342
SCN5ACardiac arrhythmia, Brugada syndrome, not specified
Likely benign
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:38591835
GRCh38:
Chr3:38550344
SCN5AR1977G, R1992G, R1956G, R1991G, R2009G, R2010GCardiac arrhythmia, Brugada syndromeUncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr3:38591836
GRCh38:
Chr3:38550345
SCN5AD1990E, D1955E, D1976E, D1991E, D2008E, D2009ECardiac arrhythmia, not specified, Brugada syndrome
Uncertain significance
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:38591839
GRCh38:
Chr3:38550348
SCN5ACardiac arrhythmia, Brugada syndromeConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr3:38591840
GRCh38:
Chr3:38550349
SCN5AP2007L, P2008L, P1989L, P1990L, P1954L, P1975LBrugada syndrome, Cardiac arrhythmiaUncertain significance
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:38591845-38591846
GRCh38:
Chr3:38550354-38550355
SCN5AS2006fs, S1953fs, S1974fs, S1988fs, S1989fs, S2007fsBrugada syndromeUncertain significance
(Nov 14, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr3:38591846
GRCh38:
Chr3:38550355
SCN5AP1952fs, P1973fs, P1987fs, P1988fs, P2005fs, P2006fsBrugada syndrome, Dilated cardiomyopathy 1EUncertain significance
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
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