| - GRCh37:
- Chr11:2466575
- GRCh38:
- Chr11:2445345
| KCNQ1 | P83fs | Long QT syndrome 1 | Likely pathogenic (Apr 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2606499
- GRCh38:
- Chr11:2585269
| KCNQ1 | F237L, F274L, F364L | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2542764
- GRCh38:
- Chr11:2521534
| KCNQ1 | S27T | Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome 1 | Uncertain significance (Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2591915
- GRCh38:
- Chr11:2570685
| KCNQ1 | G179R, G52R, G89R | Long QT syndrome 1 | Likely pathogenic (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387915-47397923
| CALM2 | | Long QT syndrome 1 | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388842-47403582
| CALM2 | | Long QT syndrome 1 | Uncertain significance (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111435
- GRCh38:
- Chr19:46608178
| CALM3 | | Long QT syndrome 1 | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111445
- GRCh38:
- Chr19:46608188
| CALM3 | | Long QT syndrome 1 | Likely benign (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111752
- GRCh38:
- Chr19:46608495
| CALM3 | | Long QT syndrome 1 | Likely benign (Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111609
- GRCh38:
- Chr19:46608352
| CALM3 | | Long QT syndrome 1 | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47104708
- GRCh38:
- Chr19:46601451
| CALM3 | | Long QT syndrome 1 | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387958
- GRCh38:
- Chr2:47160819
| CALM2 | | Long QT syndrome 1 | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387955
- GRCh38:
- Chr2:47160816
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112252
- GRCh38:
- Chr19:46608995
| CALM3 | | Long QT syndrome 1 | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397854
- GRCh38:
- Chr2:47170715
| CALM2 | | Long QT syndrome 1 | Likely benign (Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389408
- GRCh38:
- Chr2:47162269
| CALM2 | | Long QT syndrome 1 | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112127
- GRCh38:
- Chr19:46608870
| CALM3 | A104T, A68T | Long QT syndrome 1 | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389651
- GRCh38:
- Chr2:47162512
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112099
- GRCh38:
- Chr19:46608842
| CALM3 | | Long QT syndrome 1 | Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112377
- GRCh38:
- Chr19:46609120
| CALM3 | | Long QT syndrome 1 | Likely benign (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389416
- GRCh38:
- Chr2:47162277
| CALM2 | | Long QT syndrome 1 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47403567
- GRCh38:
- Chr2:47176428
| CALM2 | | Long QT syndrome 1 | Likely benign (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111436
- GRCh38:
- Chr19:46608179
| CALM3 | | Long QT syndrome 1 | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112244
- GRCh38:
- Chr19:46608987
| CALM3 | | Long QT syndrome 1 | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388843
- GRCh38:
- Chr2:47161704
| CALM2 | | Long QT syndrome 1 | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111726
- GRCh38:
- Chr19:46608469
| CALM3 | | Long QT syndrome 1 | Likely benign (Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47403562
- GRCh38:
- Chr2:47176423
| CALM2 | | Long QT syndrome 1 | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112386
- GRCh38:
- Chr19:46609129
| CALM3 | F106L, F142L | Long QT syndrome 1 | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389641
- GRCh38:
- Chr2:47162502
| CALM2 | | Long QT syndrome 1 | Likely benign (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388872
- GRCh38:
- Chr2:47161733
| CALM2 | | Long QT syndrome 1 | Likely benign (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47403563
- GRCh38:
- Chr2:47176424
| CALM2 | | Long QT syndrome 1 | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397918
- GRCh38:
- Chr2:47170779
| CALM2 | | Long QT syndrome 1 | Likely benign (Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47403562-47403571
- GRCh38:
- Chr2:47176423-47176432
| CALM2 | | Long QT syndrome 1 | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111862
- GRCh38:
- Chr19:46608605
| CALM3 | | Long QT syndrome 1 | Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389546
- GRCh38:
- Chr2:47162407
| CALM2 | | Long QT syndrome 1 | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109107
- GRCh38:
- Chr19:46605850
| CALM3 | | Long QT syndrome 1, Cardiovascular phenotype | Likely benign (Nov 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47111527
- GRCh38:
- Chr19:46608270
| CALM3 | | Long QT syndrome 1 | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387954-47387955
- GRCh38:
- Chr2:47160815-47160816
| CALM2 | | Long QT syndrome 1 | Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389649
- GRCh38:
- Chr2:47162510
| CALM2 | | Long QT syndrome 1 | Likely benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389713
- GRCh38:
- Chr2:47162574
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389782
- GRCh38:
- Chr2:47162643
| CALM2 | | Long QT syndrome 1 | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112248
- GRCh38:
- Chr19:46608991
| CALM3 | | Long QT syndrome 1 | Likely benign (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397908
- GRCh38:
- Chr2:47170769
| CALM2 | | Long QT syndrome 1 | Likely benign (Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111819
- GRCh38:
- Chr19:46608562
| CALM3 | R87*, R51* | Long QT syndrome 1 | Uncertain significance (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111494
- GRCh38:
- Chr19:46608237
| CALM3 | | Long QT syndrome 1 | Likely benign (Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111500
- GRCh38:
- Chr19:46608243
| CALM3 | | Long QT syndrome 1 | Likely benign (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111584
- GRCh38:
- Chr19:46608327
| CALM3 | | Long QT syndrome 1 | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389813
- GRCh38:
- Chr2:47162674
| CALM2 | | Long QT syndrome 1 | Likely benign (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112187
- GRCh38:
- Chr19:46608930
| CALM3 | E124K, E88K | Long QT syndrome 1 | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111440
- GRCh38:
- Chr19:46608183
| CALM3 | | Long QT syndrome 1 | Likely benign (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389011
- GRCh38:
- Chr2:47161872
| CALM2 | | Long QT syndrome 1 | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47403568
- GRCh38:
- Chr2:47176429
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109092
- GRCh38:
- Chr19:46605835
| CALM3 | | Long QT syndrome 1, Cardiovascular phenotype | Likely benign (Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112402
- GRCh38:
- Chr19:46609145
| CALM3 | A112T, A148T | Cardiovascular phenotype, Long QT syndrome 1 | Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112156
- GRCh38:
- Chr19:46608899
| CALM3 | | Long QT syndrome 1, Cardiovascular phenotype | Likely benign (Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2604711
- GRCh38:
- Chr11:2583481
| KCNQ1 | W175*, W196*, W233*, W323* | Long QT syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:2466720
- GRCh38:
- Chr11:2445490
| KCNQ1 | | Long QT syndrome 1 | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| | KCNQ1 | | Beckwith-Wiedemann syndrome, Long QT syndrome 1 | Pathogenic (Oct 24, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr11:2591893-2591894
- GRCh38:
- Chr11:2570663-2570664
| KCNQ1 | G179fs, G52fs | Long QT syndrome 1 | Likely pathogenic (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2683256
- GRCh38:
- Chr11:2662026
| KCNQ1, KCNQ1OT1 | E307*, E360*, E397*, E455*, E487* | Long QT syndrome 1 | Likely pathogenic (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111721
- GRCh38:
- Chr19:46608464
| CALM3 | | Long QT syndrome 1 | Likely benign (Mar 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397860-47397861
- GRCh38:
- Chr2:47170721-47170722
| CALM2 | | Long QT syndrome 1 | Likely benign (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112150
- GRCh38:
- Chr19:46608893
| CALM3 | | Long QT syndrome 1 | Likely benign (Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111491
- GRCh38:
- Chr19:46608234
| CALM3 | | Long QT syndrome 1 | Likely benign (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389405-47389411
- GRCh38:
- Chr2:47162266-47162272
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397856
- GRCh38:
- Chr2:47170717
| CALM2 | | Long QT syndrome 1 | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111593
- GRCh38:
- Chr19:46608336
| CALM3 | | Long QT syndrome 1 | Likely benign (Feb 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2798198
- GRCh38:
- Chr11:2776968
| KCNQ1 | | Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Long QT syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2
| Likely benign (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112407
- GRCh38:
- Chr19:46609150
| CALM3 | | Long QT syndrome 1 | Likely benign (Mar 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389648
- GRCh38:
- Chr2:47162509
| CALM2 | | Long QT syndrome 1 | Likely benign (Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47104706-47104707
- GRCh38:
- Chr19:46601449-46601450
| CALM3 | | Long QT syndrome 1 | Benign (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112204
- GRCh38:
- Chr19:46608947
| CALM3 | | Long QT syndrome 1 | Likely benign (Apr 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109067
- GRCh38:
- Chr19:46605810
| CALM3 | | Long QT syndrome 1 | Likely benign (Jun 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111440
- GRCh38:
- Chr19:46608183
| CALM3 | | Long QT syndrome 1 | Benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388866
- GRCh38:
- Chr2:47161727
| CALM2 | | Long QT syndrome 1 | Likely benign (Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47104707
- GRCh38:
- Chr19:46601450
| CALM3 | | Long QT syndrome 1 | Likely benign (Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112084
- GRCh38:
- Chr19:46608827
| CALM3 | | Long QT syndrome 1 | Likely benign (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389524
- GRCh38:
- Chr2:47162385
| CALM2 | | Long QT syndrome 1 | Likely benign (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112219
- GRCh38:
- Chr19:46608962
| CALM3 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Apr 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47104712
- GRCh38:
- Chr19:46601455
| CALM3 | | Long QT syndrome 1 | Likely benign (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109121
- GRCh38:
- Chr19:46605864
| CALM3 | | Long QT syndrome 1 | Likely benign (Feb 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389646
- GRCh38:
- Chr2:47162507
| CALM2 | | Long QT syndrome 1 | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387956
- GRCh38:
- Chr2:47160817
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389546
- GRCh38:
- Chr2:47162407
| CALM2 | | Long QT syndrome 1 | Likely benign (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111616
- GRCh38:
- Chr19:46608359
| CALM3 | | Long QT syndrome 1 | Benign (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112389
- GRCh38:
- Chr19:46609132
| CALM3 | | Long QT syndrome 1 | Likely benign (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397910-47397911
- GRCh38:
- Chr2:47170771-47170772
| CALM2 | | Long QT syndrome 1 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112374
- GRCh38:
- Chr19:46609117
| CALM3 | | Long QT syndrome 1 | Likely benign (Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389816
- GRCh38:
- Chr2:47162677
| CALM2 | | Long QT syndrome 1 | Likely benign (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111797
- GRCh38:
- Chr19:46608540
| CALM3 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47111485
- GRCh38:
- Chr19:46608228
| CALM3 | | Long QT syndrome 1 | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109104
- GRCh38:
- Chr19:46605847
| CALM3 | E8D | Long QT syndrome 1 | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112211
- GRCh38:
- Chr19:46608954
| CALM3 | D96N, D132N | Long QT syndrome 1, Cardiovascular phenotype | Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47387942
- GRCh38:
- Chr2:47160803
| CALM2 | E105D, E189D, E141D | Long QT syndrome 1 | Likely pathogenic (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388889
- GRCh38:
- Chr2:47161750
| CALM2 | D180Y, D96Y, D132Y | Long QT syndrome 1 | Pathogenic (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109064-47112410
| CALM3 | | Long QT syndrome 1 | Uncertain significance (Apr 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2683298
- GRCh38:
- Chr11:2662068
| KCNQ1, KCNQ1OT1 | T501A, T374A, T469A, T411A, T321A | Long QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1
| Uncertain significance (Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47109081
- GRCh38:
- Chr19:46605824
| CALM3 | | Long QT syndrome 1 | Uncertain significance (Sep 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47104705
- GRCh38:
- Chr19:46601448
| CALM3 | | Long QT syndrome 1 | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389808-47389811
- GRCh38:
- Chr2:47162669-47162672
| CALM2 | | Long QT syndrome 1 | Likely benign (Aug 4, 2022) | criteria provided, single submitter |