| - GRCh37:
- Chr21:35883621
- GRCh38:
- Chr21:34511323
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821826-35821827
- GRCh38:
- Chr21:34449528-34449529
| KCNE1 | R36fs | Long QT syndrome 5 | Likely pathogenic (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821687
- GRCh38:
- Chr21:34449389
| KCNE1 | | Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Likely benign (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821697
- GRCh38:
- Chr21:34449399
| KCNE1 | N79S | Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821742
- GRCh38:
- Chr21:34449444
| KCNE1 | S64I | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype, Long QT syndrome | Uncertain significance (Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821815-35821902
- GRCh38:
- Chr21:34449517-34449604
| KCNE1 | P11fs | Long QT syndrome 5 | Likely pathogenic (Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821734
- GRCh38:
- Chr21:34449436
| KCNE1 | R67S | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, not provided, Long QT syndrome | Uncertain significance (Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821791
- GRCh38:
- Chr21:34449493
| KCNE1 | L48F | Cardiovascular phenotype, Long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821853
- GRCh38:
- Chr21:34449555
| KCNE1 | M27T | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821813
- GRCh38:
- Chr21:34449515
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype, Long QT syndrome | Conflicting interpretations of pathogenicity (Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35884479
- GRCh38:
- Chr21:34512181
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35883435
- GRCh38:
- Chr21:34511137
| KCNE1 | | not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Benign (Apr 28, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35883407
- GRCh38:
- Chr21:34511109
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821586
- GRCh38:
- Chr21:34449288
| KCNE1 | E116A | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype
| Uncertain significance (Jun 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35820004
- GRCh38:
- Chr21:34447706
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820001
- GRCh38:
- Chr21:34447703
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819420
- GRCh38:
- Chr21:34447122
| KCNE1 | | not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Benign/Likely benign (May 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35884469
- GRCh38:
- Chr21:34512171
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821956
- GRCh38:
- Chr21:34449658
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820583
- GRCh38:
- Chr21:34448285
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819337
- GRCh38:
- Chr21:34447039
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819245
- GRCh38:
- Chr21:34446947
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35883571
- GRCh38:
- Chr21:34511273
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Aug 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821265
- GRCh38:
- Chr21:34448967
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821177
- GRCh38:
- Chr21:34448879
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820465
- GRCh38:
- Chr21:34448167
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819686
- GRCh38:
- Chr21:34447388
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819150
- GRCh38:
- Chr21:34446852
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821168
- GRCh38:
- Chr21:34448870
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820253
- GRCh38:
- Chr21:34447955
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819068
- GRCh38:
- Chr21:34446770
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821754
- GRCh38:
- Chr21:34449456
| KCNE1 | G60D | not provided, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821598
- GRCh38:
- Chr21:34449300
| KCNE1 | H112R | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 5
| Uncertain significance (Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821734
- GRCh38:
- Chr21:34449436
| KCNE1 | R67G | Long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821753-35821767
- GRCh38:
- Chr21:34449455-34449469
| KCNE1 | | Long QT syndrome 5 | Likely pathogenic (Sep 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821725
- GRCh38:
- Chr21:34449427
| KCNE1 | K70Q | Cardiovascular phenotype, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821822
- GRCh38:
- Chr21:34449524
| KCNE1 | | not specified, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35821937
- GRCh38:
- Chr21:34449639
| KCNE1 | | not provided, Long QT syndrome 5, Cardiovascular phenotype, not specified, Jervell and Lange-Nielsen syndrome 2 | Conflicting interpretations of pathogenicity (May 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35821821-35821822
- GRCh38:
- Chr21:34449523-34449524
| KCNE1 | S38G | not provided, Long QT syndrome, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Benign/Likely benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821920-35821921
- GRCh38:
- Chr21:34449622-34449623
| KCNE1 | N5* | Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, not provided, Long QT syndrome | Pathogenic (Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35884478
- GRCh38:
- Chr21:34512180
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35884470
- GRCh38:
- Chr21:34512172
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35884415
- GRCh38:
- Chr21:34512117
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35884412
- GRCh38:
- Chr21:34512114
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35884380
- GRCh38:
- Chr21:34512082
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35884312
- GRCh38:
- Chr21:34512014
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35883612
- GRCh38:
- Chr21:34511314
| KCNE1 | | Congenital long QT syndrome, not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Benign/Likely benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35883535
- GRCh38:
- Chr21:34511237
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35883490
- GRCh38:
- Chr21:34511192
| KCNE1 | | Congenital long QT syndrome, not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Benign/Likely benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35883489
- GRCh38:
- Chr21:34511191
| KCNE1 | | Congenital long QT syndrome, not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35883462
- GRCh38:
- Chr21:34511164
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35831002
- GRCh38:
- Chr21:34458704
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35831001
- GRCh38:
- Chr21:34458703
| KCNE1 | | not specified, Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2 | Benign/Likely benign (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35830983
- GRCh38:
- Chr21:34458685
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35830958
- GRCh38:
- Chr21:34458660
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821945
- GRCh38:
- Chr21:34449647
| KCNE1 | | not specified, Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821879
- GRCh38:
- Chr21:34449581
| KCNE1 | | Cardiovascular phenotype, Long QT syndrome, Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 | Conflicting interpretations of pathogenicity (Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35821513
- GRCh38:
- Chr21:34449215
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 2 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35821419
- GRCh38:
- Chr21:34449121
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 2 | Benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821411
- GRCh38:
- Chr21:34449113
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, not provided | Benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821347
- GRCh38:
- Chr21:34449049
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, not provided | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35821275
- GRCh38:
- Chr21:34448977
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5, not provided | Benign/Likely benign (Jul 6, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821170
- GRCh38:
- Chr21:34448872
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35821087
- GRCh38:
- Chr21:34448789
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome 5, not provided, Jervell and Lange-Nielsen syndrome 2 | Benign (Jun 13, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821086
- GRCh38:
- Chr21:34448788
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome, Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome | Uncertain significance (Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821053
- GRCh38:
- Chr21:34448755
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5, not provided | Benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35821050
- GRCh38:
- Chr21:34448752
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35820990
- GRCh38:
- Chr21:34448692
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35820965
- GRCh38:
- Chr21:34448667
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, not provided | Benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35820726
- GRCh38:
- Chr21:34448428
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5
| Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820620
- GRCh38:
- Chr21:34448322
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820548
- GRCh38:
- Chr21:34448250
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820500
- GRCh38:
- Chr21:34448202
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820475
- GRCh38:
- Chr21:34448177
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820351
- GRCh38:
- Chr21:34448053
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35820324
- GRCh38:
- Chr21:34448026
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome, Congenital long QT syndrome, not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35820221
- GRCh38:
- Chr21:34447923
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, not provided | Benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35820205
- GRCh38:
- Chr21:34447907
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35820096
- GRCh38:
- Chr21:34447798
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2 | Uncertain significance (Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819987
- GRCh38:
- Chr21:34447689
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819969
- GRCh38:
- Chr21:34447671
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35819960
- GRCh38:
- Chr21:34447662
| KCNE1 | | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome, Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome | Uncertain significance (Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819877
- GRCh38:
- Chr21:34447579
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819842
- GRCh38:
- Chr21:34447544
| KCNE1 | | Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819728
- GRCh38:
- Chr21:34447430
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5 | Benign/Likely benign (May 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819712
- GRCh38:
- Chr21:34447414
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819711
- GRCh38:
- Chr21:34447413
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819705
- GRCh38:
- Chr21:34447407
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819684
- GRCh38:
- Chr21:34447386
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819615
- GRCh38:
- Chr21:34447317
| KCNE1 | | Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819543
- GRCh38:
- Chr21:34447245
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819542
- GRCh38:
- Chr21:34447244
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:35819536
- GRCh38:
- Chr21:34447238
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5 | Benign (May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819535
- GRCh38:
- Chr21:34447237
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819445
- GRCh38:
- Chr21:34447147
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5 | Benign/Likely benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819440
- GRCh38:
- Chr21:34447142
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5 | Benign/Likely benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819393
- GRCh38:
- Chr21:34447095
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819349
- GRCh38:
- Chr21:34447051
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35819223
- GRCh38:
- Chr21:34446925
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | Uncertain significance (Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35819214
- GRCh38:
- Chr21:34446916
| KCNE1 | | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |