| - GRCh37:
- Chr7:150642044-150656824
- GRCh38:
- Chr7:150944956-150959736
| KCNH2 | | Long QT syndrome | Pathogenic
(Jul 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150642474-150642475
- GRCh38:
- Chr7:150945386-150945387
| KCNH2 | H813fs, H1153fs | Long QT syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150642562-150642563
- GRCh38:
- Chr7:150945474-150945475
| KCNH2 | A1124fs, A784fs | Long QT syndrome | Pathogenic
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150643964
- GRCh38:
- Chr7:150946876
| KCNH2 | | Cardiovascular phenotype | Pathogenic
(Jan 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644017-150644018
- GRCh38:
- Chr7:150946929-150946930
| KCNH2 | P1093fs, P753fs | Long QT syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:150644039-150644040
- GRCh38:
- Chr7:150946951-150946952
| KCNH2 | P1086fs, P746fs | Long QT syndrome | Pathogenic
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644040
- GRCh38:
- Chr7:150946952
| KCNH2 | P1086fs, P746fs | not provided | Likely pathogenic
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644043-150644044
- GRCh38:
- Chr7:150946955-150946956
| KCNH2 | G1085fs, G745fs | Long QT syndrome | Pathogenic
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644043-150644044
- GRCh38:
- Chr7:150946955-150946956
| KCNH2 | P746fs, P1086fs | not provided, Long QT syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644064-150644070
- GRCh38:
- Chr7:150946976-150946982
| KCNH2 | P1076fs, P736fs | Long QT syndrome, Cardiovascular phenotype | Pathogenic
(Dec 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644093
- GRCh38:
- Chr7:150947005
| KCNH2 | Q1068*, Q728* | Long QT syndrome 2 | Pathogenic
(Jul 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644094-150644095
- GRCh38:
- Chr7:150947006-150947007
| KCNH2 | Q1068fs, Q728fs | not provided | Pathogenic
(Sep 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644102
- GRCh38:
- Chr7:150947014
| KCNH2 | Q1065*, Q725* | Cardiovascular phenotype, Long QT syndrome | Pathogenic
(Dec 30, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644122-150644123
- GRCh38:
- Chr7:150947034-150947035
| KCNH2 | A1058fs, A718fs | Long QT syndrome | Pathogenic
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644127-150644128
- GRCh38:
- Chr7:150947039-150947040
| KCNH2 | S717fs, S1057fs | Long QT syndrome | Pathogenic
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644251-150645365
- GRCh38:
- Chr7:150947163-150948277
| KCNH2 | | Prolonged QT interval | Likely pathogenic
(Jun 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644396-150649961
- GRCh38:
- Chr7:150947308-150952873
| KCNH2 | | Long QT syndrome | Likely pathogenic
(Dec 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644414
- GRCh38:
- Chr7:150947326
| KCNH2 | | not provided | Pathogenic
(Oct 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644415
- GRCh38:
- Chr7:150947327
| KCNH2 | | Long QT syndrome, not provided | Pathogenic/Likely pathogenic
(May 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644432
- GRCh38:
- Chr7:150947344
| KCNH2 | Q706*, Q1046*, Q950* | Cardiovascular phenotype | Pathogenic
(Dec 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644432-150644435
- GRCh38:
- Chr7:150947344-150947347
| KCNH2 | L1045fs, L705fs | not provided | Pathogenic
(Mar 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644432
- GRCh38:
- Chr7:150947344
| KCNH2 | Q1046fs, Q706fs | Cardiac arrhythmia | Pathogenic
(Sep 29, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644439-150644456
- GRCh38:
- Chr7:150947351-150947368
| KCNH2 | V1038fs, V698fs | not provided | Pathogenic
(Jul 8, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644455-150644456
- GRCh38:
- Chr7:150947367-150947368
| KCNH2 | V1038fs, V698fs | Long QT syndrome | Pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644455-150644456
- GRCh38:
- Chr7:150947367-150947368
| KCNH2 | V1038fs, V698fs | not provided | Likely pathogenic
(Jan 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644455-150644456
- GRCh38:
- Chr7:150947367-150947368
| KCNH2 | V1038fs, V698fs | Cardiac arrhythmia, Long QT syndrome | Pathogenic
(Feb 18, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644456-150644469
- GRCh38:
- Chr7:150947368-150947381
| KCNH2 | P1034fs, P694fs | not provided, Cardiac arrhythmia, Long QT syndrome
| Pathogenic/Likely pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644458-150644459
- GRCh38:
- Chr7:150947370-150947371
| KCNH2 | D1037fs, D697fs | Long QT syndrome | Pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644458-150644459
- GRCh38:
- Chr7:150947370-150947371
| KCNH2 | | Long QT syndrome | Likely pathogenic
(Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644458-150644459
- GRCh38:
- Chr7:150947370-150947371
| KCNH2 | D1037fs, D697fs | Long QT syndrome | Pathogenic
(May 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644459-150644460
- GRCh38:
- Chr7:150947371-150947372
| KCNH2 | D697fs, D1037fs | Long QT syndrome 2, Long QT syndrome | Pathogenic
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644460-150644467
- GRCh38:
- Chr7:150947372-150947379
| KCNH2 | P1034fs, P694fs | Long QT syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644460-150644461
- GRCh38:
- Chr7:150947372-150947373
| KCNH2 | D1037fs, D697fs | not provided | Pathogenic
(Mar 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644460-150644461
- GRCh38:
- Chr7:150947372-150947373
| KCNH2 | D697fs, D1037fs | not provided | Pathogenic
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644460-150644461
- GRCh38:
- Chr7:150947372-150947373
| KCNH2 | D1037fs, D697fs | Cardiovascular phenotype, not provided, Long QT syndrome
| Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644460-150644461
- GRCh38:
- Chr7:150947372-150947373
| KCNH2 | D1037fs, D697fs | not provided | Pathogenic
(Mar 20, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644461-150644462
- GRCh38:
- Chr7:150947373-150947374
| KCNH2 | G1036fs, G696fs | Long QT syndrome | Pathogenic
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644461-150644468
- GRCh38:
- Chr7:150947373-150947380
| KCNH2 | P694fs, P1034fs | Cardiac arrhythmia | Likely pathogenic
(Sep 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644461-150644462
- GRCh38:
- Chr7:150947373-150947374
| KCNH2 | G1036fs, G696fs | Long QT syndrome | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644461
- GRCh38:
- Chr7:150947373
| KCNH2 | G1036fs, G696fs | Long QT syndrome, Cardiovascular phenotype, not provided
| Pathogenic
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644462-150644475
- GRCh38:
- Chr7:150947374-150947387
| KCNH2 | P1034fs, P694fs | Long QT syndrome, not provided | Pathogenic
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644464-150644465
- GRCh38:
- Chr7:150947376-150947377
| KCNH2 | R1035fs, R695fs | Long QT syndrome | Pathogenic
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644464-150644465
- GRCh38:
- Chr7:150947376-150947377
| KCNH2 | R1035fs, R695fs | Long QT syndrome | Pathogenic
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644465-150644466
- GRCh38:
- Chr7:150947377-150947378
| KCNH2 | R1035fs, R695fs | Long QT syndrome 2 | Pathogenic
(Mar 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644465
- GRCh38:
- Chr7:150947377
| KCNH2 | R695fs, R1035fs | not provided, Long QT syndrome | Pathogenic
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644466-150644478
- GRCh38:
- Chr7:150947378-150947390
| KCNH2 | R1032fs, R692fs | Cardiovascular phenotype, Long QT syndrome | Pathogenic
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644468-150644469
- GRCh38:
- Chr7:150947380-150947381
| KCNH2 | P1034fs, P694fs | Long QT syndrome 2 | Pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644468-150644469
- GRCh38:
- Chr7:150947380-150947381
| KCNH2 | P694fs, P1034fs | not provided | Likely pathogenic
(Feb 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr7:150644468-150644469
- GRCh38:
- Chr7:150947380-150947381
| KCNH2 | P1034fs, P694fs | Cardiac arrhythmia, Cardiovascular phenotype | Pathogenic
(May 24, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644469-150644472
- GRCh38:
- Chr7:150947381-150947384
| KCNH2 | R1033fs, R693fs | Long QT syndrome | Pathogenic
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644469-150644482
- GRCh38:
- Chr7:150947381-150947394
| KCNH2 | S1029fs, S689fs | Long QT syndrome | Pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644469-150644470
- GRCh38:
- Chr7:150947381-150947382
| KCNH2 | P694fs, P1034fs | not provided, Long QT syndrome | Pathogenic/Likely pathogenic
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644469
- GRCh38:
- Chr7:150947381
| KCNH2 | R695fs, R1035fs | not provided | Pathogenic
(May 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644471-150644472
- GRCh38:
- Chr7:150947383-150947384
| KCNH2 | R1033fs, R693fs | Cardiovascular phenotype, Long QT syndrome | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644474-150644475
- GRCh38:
- Chr7:150947386-150947387
| KCNH2 | R692fs, R1032fs | Cardiovascular phenotype | Pathogenic
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644474-150644475
- GRCh38:
- Chr7:150947386-150947387
| KCNH2 | R1032fs, R692fs | Long QT syndrome, Cardiovascular phenotype, not provided
| Pathogenic/Likely pathogenic
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644474
- GRCh38:
- Chr7:150947386
| KCNH2 | R1032fs, R692fs | not provided, Long QT syndrome, Cardiovascular phenotype
| Pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644476
- GRCh38:
- Chr7:150947388
| KCNH2 | G1031fs, G691fs | Long QT syndrome, Cardiac arrhythmia | Pathogenic/Likely pathogenic
(Apr 20, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644479-150644753
- GRCh38:
- Chr7:150947389-150947390
| KCNH2 | | Long QT syndrome 2 | Pathogenic
(Feb 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644479-150644480
- GRCh38:
- Chr7:150947391-150947392
| KCNH2 | P690fs, P1030fs | not provided | Pathogenic
(May 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644480-150644481
- GRCh38:
- Chr7:150947392-150947393
| KCNH2 | P1030fs, P690fs | Long QT syndrome | Pathogenic
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644488-150644489
- GRCh38:
- Chr7:150947400-150947401
| KCNH2 | L1027fs, L687fs | Cardiac arrhythmia | Pathogenic
(Jun 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644507-150644508
- GRCh38:
- Chr7:150947419-150947420
| KCNH2 | S1021fs, S681fs | not provided | Likely pathogenic
(Oct 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644508
- GRCh38:
- Chr7:150947420
| KCNH2 | S681fs, S1021fs | Long QT syndrome | Pathogenic
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644514
- GRCh38:
- Chr7:150947426
| KCNH2 | T1019fs, T679fs | Long QT syndrome | Pathogenic
(May 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644528
- GRCh38:
- Chr7:150947440
| KCNH2 | R1014*, R674* | not provided, Long QT syndrome, Long QT syndrome 2
| Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644529
- GRCh38:
- Chr7:150947441
| KCNH2 | R674fs, R1014fs | Long QT syndrome | Pathogenic
(Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644536
- GRCh38:
- Chr7:150947448
| KCNH2 | E1011fs, E671fs | not provided | Pathogenic
(Apr 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644541
- GRCh38:
- Chr7:150947453
| KCNH2 | Y1009*, Y669* | not provided, Long QT syndrome | Pathogenic
(Aug 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644546
- GRCh38:
- Chr7:150947458
| KCNH2 | Q668*, Q912*, Q1008* | Long QT syndrome | Pathogenic
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644551
- GRCh38:
- Chr7:150947463
| KCNH2 | G1006fs, G666fs | not provided, Long QT syndrome, Long QT syndrome 2
| Pathogenic
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644560-150644561
- GRCh38:
- Chr7:150947472-150947473
| KCNH2 | D663fs, D1003fs | Long QT syndrome | Pathogenic
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644561
- GRCh38:
- Chr7:150947473
| KCNH2 | D1003fs, D663fs | Long QT syndrome | Pathogenic
(Jan 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644561
- GRCh38:
- Chr7:150947473
| KCNH2 | D1003Y, D663Y, D907Y | not provided | Likely pathogenic
(Jul 16, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644565
- GRCh38:
- Chr7:150947477
| KCNH2 | W1001*, W661*, W905* | not provided, Long QT syndrome | Pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644566
- GRCh38:
- Chr7:150947478
| KCNH2 | W1001*, W661*, W905* | Cardiovascular phenotype, Cardiac arrhythmia, not provided,
Long QT syndrome | Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644581
- GRCh38:
- Chr7:150947493
| KCNH2 | N656I, N996I, N900I | not provided, Long QT syndrome 2 | Pathogenic/Likely pathogenic
(Dec 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644600-150644601
- GRCh38:
- Chr7:150947512-150947513
| KCNH2 | | Cardiac arrhythmia, not provided, Long QT syndrome
| Pathogenic/Likely pathogenic
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644605
- GRCh38:
- Chr7:150947517
| KCNH2 | | not provided | Pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644699-150644700
- GRCh38:
- Chr7:150947611-150947612
| KCNH2 | L647fs, L987fs | Cardiac arrhythmia | Likely pathogenic
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644699
- GRCh38:
- Chr7:150947611
| KCNH2 | L647fs, L987fs | Long QT syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644699-150644700
- GRCh38:
- Chr7:150947611-150947612
| KCNH2 | L987fs, L647fs | not provided, Long QT syndrome, Cardiovascular phenotype,
Cardiac arrhythmia, Long QT syndrome 2 | Pathogenic
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644706-150644707
- GRCh38:
- Chr7:150947618-150947619
| KCNH2 | N985fs, N645fs | not provided | Pathogenic
(Apr 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644707
- GRCh38:
- Chr7:150947619
| KCNH2 | C644*, C984*, C888* | not provided | Pathogenic
(Dec 3, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644717-150644718
- GRCh38:
- Chr7:150947629-150947630
| KCNH2 | S981fs, S641fs | Long QT syndrome | Pathogenic
(Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644720-150644724
- GRCh38:
- Chr7:150947632-150947636
| KCNH2 | K639fs, K979fs | Long QT syndrome 2 | Pathogenic
(Nov 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644727-150644728
- GRCh38:
- Chr7:150947639-150947640
| KCNH2 | E638fs, E978fs | Long QT syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644727
- GRCh38:
- Chr7:150947639
| KCNH2 | E638*, E978*, E882* | not provided | Pathogenic
(Jul 15, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644728
- GRCh38:
- Chr7:150947640
| KCNH2 | C977*, C637* | Long QT syndrome | Pathogenic
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644741
- GRCh38:
- Chr7:150947653
| KCNH2 | L633fs, L973fs | Long QT syndrome, Long QT syndrome 2 | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644741-150644742
- GRCh38:
- Chr7:150947653-150947654
| KCNH2 | L633fs, L973fs | not provided | Pathogenic
(Jan 30, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644753
- GRCh38:
- Chr7:150947665
| KCNH2 | G629fs, G969fs | not provided | Pathogenic
(Nov 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644755-150644756
- GRCh38:
- Chr7:150947667-150947668
| KCNH2 | G969fs, G629fs | Cardiovascular phenotype | Pathogenic
(Dec 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644755-150644756
- GRCh38:
- Chr7:150947667-150947668
| KCNH2 | G630fs, G970fs | not provided | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644758-150644759
- GRCh38:
- Chr7:150947670-150947671
| KCNH2 | P628fs, P968fs | not provided, Long QT syndrome | Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644765
- GRCh38:
- Chr7:150947677
| KCNH2 | G625fs, G965fs | Cardiovascular phenotype, Long QT syndrome | Pathogenic
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644766-150644767
- GRCh38:
- Chr7:150947678-150947679
| KCNH2 | G625fs, G965fs | Cardiovascular phenotype, not provided, Long QT syndrome
| Pathogenic/Likely pathogenic
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644767
- GRCh38:
- Chr7:150947679
| KCNH2 | G965fs, G625fs | not provided, Cardiac arrhythmia | Pathogenic
(Jan 4, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150644771-150644772
- GRCh38:
- Chr7:150947683-150947684
| KCNH2 | P963fs, P623fs | not provided | Likely pathogenic
(Jul 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150644801-150644802
- GRCh38:
- Chr7:150947713-150947714
| KCNH2 | L613fs, L953fs | Inborn genetic diseases | Pathogenic
(Nov 17, 2020) | criteria provided, single submitter |