| - GRCh37:
- Chr7:150648662
- GRCh38:
- Chr7:150951574
| KCNH2 | I267fs, I607fs | Congenital long QT syndrome | Pathogenic (Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38655522
- GRCh38:
- Chr3:38614031
| SCN5A | S216L | Cardiac arrhythmia, Congenital long QT syndrome | Benign/Likely benign (Mar 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150648171
- GRCh38:
- Chr7:150951083
| KCNH2 | I322fs, I662fs | Congenital long QT syndrome, Long QT syndrome | Pathogenic/Likely pathogenic (Apr 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2797286
- GRCh38:
- Chr11:2776056
| KCNQ1 | | Congenital long QT syndrome | Likely pathogenic (Oct 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2797189
- GRCh38:
- Chr11:2775959
| KCNQ1 | | Long QT syndrome, Congenital long QT syndrome | Pathogenic/Likely pathogenic (Aug 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2592634
- GRCh38:
- Chr11:2571404
| KCNQ1 | | Congenital long QT syndrome, Long QT syndrome, not provided
| Pathogenic/Likely pathogenic (Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:2690777
- GRCh38:
- Chr12:2581611
| CACNA1C | N639K, N636K | Congenital long QT syndrome, Timothy syndrome, Long QT syndrome
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2593319
- Chr11:2608920
- GRCh38:
- Chr11:2572089
- Chr11:2587690
| KCNQ1, KCNQ1 | V254M, V127M, V164M, V417M, V290M, V237M, V385M, V327M | Long QT syndrome 1 | Pathogenic (Mar 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:38645420
- Chr3:38645558
- GRCh38:
- Chr3:38603929
- Chr3:38604067
| SCN5A, SCN5A | H558R, T512I | Progressive familial heart block, type 1A | Pathogenic (Apr 15, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr21:35884576
- GRCh38:
- Chr21:34512278
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Long QT syndrome
| Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739967
- GRCh38:
- Chr7:92110653
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739935
- GRCh38:
- Chr7:92110621
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739589
- GRCh38:
- Chr7:92110275
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739552
- GRCh38:
- Chr7:92110238
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91737810
- GRCh38:
- Chr7:92108496
| AKAP9 | Y3850C, Y3842C, Y2065C | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91734996
- GRCh38:
- Chr7:92105682
| AKAP9 | K3779Q, K3771Q, K1994Q | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91734981
- GRCh38:
- Chr7:92105667
| AKAP9 | | not provided, Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 11 | Benign/Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91732039
- GRCh38:
- Chr7:92102725
| AKAP9 | M3743I, M3735I, M1958I | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91730197
- GRCh38:
- Chr7:92100883
| AKAP9 | A3642S, A3634S, A1857S | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91730174
- GRCh38:
- Chr7:92100860
| AKAP9 | S3634C, S3626C, S1849C | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91729132
- GRCh38:
- Chr7:92099818
| AKAP9 | | not provided, Cardiovascular phenotype, Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 11 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91727525
- GRCh38:
- Chr7:92098211
| AKAP9 | | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Nov 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91727408
- GRCh38:
- Chr7:92098094
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome 11, not provided, not specified, Long QT syndrome | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91726494
- GRCh38:
- Chr7:92097180
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91726380
- GRCh38:
- Chr7:92097066
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Aug 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91718853
- GRCh38:
- Chr7:92089539
| AKAP9 | | Congenital long QT syndrome, not provided, Long QT syndrome
| Conflicting interpretations of pathogenicity (Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91718714
- GRCh38:
- Chr7:92089400
| AKAP9 | A3077T, A3069T, A1292T | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91718693
- GRCh38:
- Chr7:92089379
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, not specified
| Conflicting interpretations of pathogenicity (Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91715687
- GRCh38:
- Chr7:92086373
| AKAP9 | A3057E, A3049E, A1272E | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91714971
- GRCh38:
- Chr7:92085657
| AKAP9 | T2999A, T2991A, T1214A | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91712847
- GRCh38:
- Chr7:92083533
| AKAP9 | M2842V, M2834V, M1057V | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Uncertain significance (Apr 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91712478
- GRCh38:
- Chr7:92083164
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91709003
- GRCh38:
- Chr7:92079689
| AKAP9 | Y2519C, Y2511C, Y734C | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91708381
- GRCh38:
- Chr7:92079067
| AKAP9 | | Long QT syndrome, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Aug 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91707140
- GRCh38:
- Chr7:92077826
| AKAP9 | E2299G, E2291G, E514G | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome | Uncertain significance (Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91707132
- GRCh38:
- Chr7:92077818
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91699389
- GRCh38:
- Chr7:92070075
| AKAP9 | S2126R, S341R | Cardiovascular phenotype, Congenital long QT syndrome | Uncertain significance (Aug 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91691718
- GRCh38:
- Chr7:92062404
| AKAP9 | | Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
| Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91690697
- GRCh38:
- Chr7:92061383
| AKAP9 | A1909T, A124T | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Feb 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91690694
- GRCh38:
- Chr7:92061380
| AKAP9 | R1908G, R123G | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Feb 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91682167
- GRCh38:
- Chr7:92052853
| AKAP9 | | Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Apr 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91674386
- GRCh38:
- Chr7:92045072
| AKAP9 | A1743T | Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
| Uncertain significance (Aug 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91667926-91667928
- GRCh38:
- Chr7:92038612-92038614
| AKAP9 | E1513del | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome | Uncertain significance (Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91660873
- GRCh38:
- Chr7:92031559
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91660833
- GRCh38:
- Chr7:92031519
| AKAP9 | G1418D | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Jan 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91659224
- GRCh38:
- Chr7:92029910
| AKAP9 | | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91651646
- GRCh38:
- Chr7:92022332
| AKAP9 | M1311K | Congenital long QT syndrome, Cardiovascular phenotype | Uncertain significance (Dec 8, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91651588
- GRCh38:
- Chr7:92022274
| AKAP9 | F1292L | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91645538
- GRCh38:
- Chr7:92016224
| AKAP9 | E1236D | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91632562
- GRCh38:
- Chr7:92003248
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome 11, not provided, not specified, Long QT syndrome | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91632509
- GRCh38:
- Chr7:92003195
| AKAP9 | D1093G | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91632195
- GRCh38:
- Chr7:92002881
| AKAP9 | E988D | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91631559
- GRCh38:
- Chr7:92002245
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Jun 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91630902
- GRCh38:
- Chr7:92001588
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91630875
- GRCh38:
- Chr7:92001561
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome | Conflicting interpretations of pathogenicity (Feb 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91630414
- GRCh38:
- Chr7:92001100
| AKAP9 | K395E | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Uncertain significance (Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91630147
- GRCh38:
- Chr7:92000833
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91603134
- GRCh38:
- Chr7:91973820
| AKAP9 | H53R | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype, not specified | Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91570309
- GRCh38:
- Chr7:91940995
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91570307
- GRCh38:
- Chr7:91940993
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91570294
- GRCh38:
- Chr7:91940980
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91570290
- GRCh38:
- Chr7:91940976
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome 11, not provided
| Benign/Likely benign (Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91570254
- GRCh38:
- Chr7:91940940
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome 11 | Uncertain significance (Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91570203
- GRCh38:
- Chr7:91940889
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91570197-91570198
- GRCh38:
- Chr7:91940883-91940884
| AKAP9 | | Long QT syndrome, Congenital long QT syndrome, not provided
| Conflicting interpretations of pathogenicity (Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8788406
- GRCh38:
- Chr3:8746720
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8788405
- GRCh38:
- Chr3:8746719
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance (Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788387
- GRCh38:
- Chr3:8746701
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance (Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788364
- GRCh38:
- Chr3:8746678
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy | Benign/Likely benign (Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788358
- GRCh38:
- Chr3:8746672
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy | Conflicting interpretations of pathogenicity (Oct 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8788341
- GRCh38:
- Chr3:8746655
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8788316
- GRCh38:
- Chr3:8746630
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8788294
- GRCh38:
- Chr3:8746608
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788278
- GRCh38:
- Chr3:8746592
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Long QT syndrome, Caveolinopathy, Hypertrophic cardiomyopathy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8788275
- GRCh38:
- Chr3:8746589
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8788145
- GRCh38:
- Chr3:8746459
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance (Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788020
- GRCh38:
- Chr3:8746334
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8787986
- GRCh38:
- Chr3:8746300
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8787830
- GRCh38:
- Chr3:8746144
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787829
- GRCh38:
- Chr3:8746143
| CAV3, OXTR | | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy | Benign/Likely benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787356
- GRCh38:
- Chr3:8745670
| CAV3, OXTR | L87F | Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38691076
- GRCh38:
- Chr3:38649585
| SCN5A | | Congenital long QT syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38691039
- GRCh38:
- Chr3:38649548
| SCN5A | | Congenital long QT syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38691010
- GRCh38:
- Chr3:38649519
| SCN5A | | Congenital long QT syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38655250
- GRCh38:
- Chr3:38613759
| SCN5A | | Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome, Paroxysmal familial ventricular fibrillation, Cardiovascular phenotype, Cardiac arrhythmia, Congenital long QT syndrome, Brugada syndrome, Progressive familial heart block
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38646247
- GRCh38:
- Chr3:38604756
| SCN5A | | Sick sinus syndrome 1, Congenital long QT syndrome, Brugada syndrome 1, Long QT syndrome 3, Cardiac arrhythmia, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38645293
- GRCh38:
- Chr3:38603802
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Cardiovascular phenotype, Cardiac arrhythmia, Congenital long QT syndrome, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E | Conflicting interpretations of pathogenicity (Jun 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38645223
- GRCh38:
- Chr3:38603732
| SCN5A | L624I | Paroxysmal familial ventricular fibrillation, Progressive familial heart block, Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Congenital long QT syndrome, Brugada syndrome, Long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38639331
- GRCh38:
- Chr3:38597840
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Congenital long QT syndrome, not specified, Cardiovascular phenotype, Cardiac arrhythmia, not provided, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1EProgressive familial heart block, type 1A, ...see more | Conflicting interpretations of pathogenicity (Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38639301
- GRCh38:
- Chr3:38597810
| SCN5A | | Brugada syndrome 1, Congenital long QT syndrome, Long QT syndrome 3, Cardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1 | Conflicting interpretations of pathogenicity (Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38639223
- GRCh38:
- Chr3:38597732
| SCN5A | | Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype, Sick sinus syndrome, Congenital long QT syndrome, Long QT syndrome, Paroxysmal familial ventricular fibrillation, Cardiac arrhythmia, Brugada syndrome, Progressive familial heart block, not provided | Conflicting interpretations of pathogenicity (Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38622835
- GRCh38:
- Chr3:38581344
| LOC110121269, SCN5A | L939F | Progressive familial heart block, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Atrial fibrillation, familial, 10, Dilated Cardiomyopathy, Dominant, Sick sinus syndromeParoxysmal familial ventricular fibrillation, Congenital long QT syndrome, Brugada syndrome, Long QT syndrome, ...see more | Uncertain significance (Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38622662
- GRCh38:
- Chr3:38581171
| LOC110121269, SCN5A | | Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Congenital long QT syndrome, Paroxysmal familial ventricular fibrillation, Cardiac arrhythmia, Brugada syndrome, Long QT syndrome, Progressive familial heart block | Conflicting interpretations of pathogenicity (Jul 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38622416
- GRCh38:
- Chr3:38580925
| LOC110121269, SCN5A | | Dilated Cardiomyopathy, Dominant, Sick sinus syndrome, Congenital long QT syndrome, Long QT syndrome, Paroxysmal familial ventricular fibrillation, Cardiac arrhythmia, Progressive familial heart block, not provided, Brugada syndrome
| Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38620831
- GRCh38:
- Chr3:38579340
| LOC110121269, SCN5A | | Dilated Cardiomyopathy, Dominant, Congenital long QT syndrome, Sick sinus syndrome, Paroxysmal familial ventricular fibrillation, Cardiovascular phenotype, Cardiac arrhythmia, not specified, Brugada syndrome, Long QT syndrome, Progressive familial heart block | Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38618279
- GRCh38:
- Chr3:38576788
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Congenital long QT syndrome, not specified, Cardiac arrhythmia, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A | Conflicting interpretations of pathogenicity (Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38618200
- GRCh38:
- Chr3:38576709
| SCN5A | P1154S, P1155S, P1101S | SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Atrial fibrillation, familial, 10, Cardiovascular phenotype, not provided, Congenital long QT syndromeBrugada syndrome, Dilated cardiomyopathy 1E, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, ...see more | Uncertain significance (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38595912
- GRCh38:
- Chr3:38554421
| SCN5A | | Congenital long QT syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38593036
- GRCh38:
- Chr3:38551545
| SCN5A | | Brugada syndrome 1, Long QT syndrome 3, Cardiovascular phenotype, Cardiac arrhythmia, Congenital long QT syndrome, Brugada syndrome, not provided, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1 ...see more | Conflicting interpretations of pathogenicity (Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38592577
- GRCh38:
- Chr3:38551086
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Cardiovascular phenotype, Congenital long QT syndrome, Cardiac arrhythmia, Brugada syndrome, not provided, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A ...see more | Conflicting interpretations of pathogenicity (Jun 1, 2023) | criteria provided, conflicting interpretations |