| - GRCh37:
- Chr11:128782003
- GRCh38:
- Chr11:128912108
| KCNJ5 | E279K | Long QT syndrome 13, Familial hyperaldosteronism type III, not provided
| Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128782074
- GRCh38:
- Chr11:128912179
| KCNJ5 | | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 13,
Familial hyperaldosteronism type III | Likely benign
(Oct 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786293-128786294
- GRCh38:
- Chr11:128916398-128916399
| KCNJ5 | | Long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13
| Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781317
- GRCh38:
- Chr11:128911422
| KCNJ5 | R50H | Cardiovascular phenotype, Long QT syndrome 13, Familial hyperaldosteronism type III,
Familial hyperaldosteronism type III, Long QT syndrome | Uncertain significance
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781392
- GRCh38:
- Chr11:128911497
| KCNJ5 | S75N | Cardiovascular phenotype, Long QT syndrome 13, Familial hyperaldosteronism type III,
Long QT syndrome | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781427
- GRCh38:
- Chr11:128911532
| KCNJ5 | R87C | Long QT syndrome, not provided, Long QT syndrome 13,
Familial hyperaldosteronism type III, Cardiovascular phenotype | Uncertain significance
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786321
- GRCh38:
- Chr11:128916426
| KCNJ5 | R319W | not provided, Long QT syndrome 13, Familial hyperaldosteronism type III
| Uncertain significance
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781786
- GRCh38:
- Chr11:128911891
| KCNJ5 | | Cardiovascular phenotype, Long QT syndrome 13, Familial hyperaldosteronism type III,
Long QT syndrome | Likely benign
(Dec 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781978
- GRCh38:
- Chr11:128912083
| KCNJ5 | | Familial hyperaldosteronism type III, Long QT syndrome 13, Long QT syndrome
| Likely benign
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781519
- GRCh38:
- Chr11:128911624
| KCNJ5 | | Long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13,
Cardiovascular phenotype | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781799
- GRCh38:
- Chr11:128911904
| KCNJ5 | R211W | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 13,
Familial hyperaldosteronism type III | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786360
- GRCh38:
- Chr11:128916465
| KCNJ5 | R332* | Long QT syndrome 13, Familial hyperaldosteronism type III, Long QT syndrome
| Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786614
- GRCh38:
- Chr11:128916719
| KCNJ5 | R416S | Cardiovascular phenotype, Familial hyperaldosteronism type III, Long QT syndrome 13
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781700
- GRCh38:
- Chr11:128911805
| KCNJ5 | V178I | Familial hyperaldosteronism type III, Long QT syndrome 13, Long QT syndrome
| Uncertain significance
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781442
- GRCh38:
- Chr11:128911547
| KCNJ5 | V92I | Cardiovascular phenotype, Familial hyperaldosteronism type III, Long QT syndrome 13,
Long QT syndrome | Uncertain significance
(Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781316
- GRCh38:
- Chr11:128911421
| KCNJ5 | R50C | not provided, Long QT syndrome, Long QT syndrome 13,
Familial hyperaldosteronism type III, Cardiovascular phenotype | Uncertain significance
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781287
- GRCh38:
- Chr11:128911392
| KCNJ5 | T40M | Long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781382
- GRCh38:
- Chr11:128911487
| KCNJ5 | R72W | Familial hyperaldosteronism type III, Long QT syndrome 13, Long QT syndrome,
not provided, Cardiovascular phenotype | Conflicting interpretations of pathogenicity
(Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:128761336
- GRCh38:
- Chr11:128891441
| KCNJ5 | | Long QT syndrome 13, Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
| Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786517
- GRCh38:
- Chr11:128916622
| KCNJ5 | P384R | Cardiovascular phenotype, Long QT syndrome 13, Long QT syndrome
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786586
- GRCh38:
- Chr11:128916691
| KCNJ5 | K407R | Long QT syndrome 13, Familial hyperaldosteronism type III, Long QT syndrome
| Uncertain significance
(Sep 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781893
- GRCh38:
- Chr11:128911998
| KCNJ5 | R242Q | Long QT syndrome, Long QT syndrome 13, Familial hyperaldosteronism type III
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781606
- GRCh38:
- Chr11:128911711
| KCNJ5 | | Cardiovascular phenotype, Long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Likely benign
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781480
- GRCh38:
- Chr11:128911585
| KCNJ5 | | Cardiovascular phenotype, Familial hyperaldosteronism type III, Long QT syndrome 13,
not provided, Long QT syndrome | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781842
- GRCh38:
- Chr11:128911947
| KCNJ5 | R225H | Long QT syndrome, Cardiovascular phenotype, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128782032
- GRCh38:
- Chr11:128912137
| KCNJ5 | E288D | Hypertrophic cardiomyopathy, Long QT syndrome 13 | Conflicting interpretations of pathogenicity
(Feb 5, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:128781813
- GRCh38:
- Chr11:128911918
| KCNJ5 | | Familial hyperaldosteronism type III, Long QT syndrome 13, Cardiovascular phenotype,
Long QT syndrome | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786552
- GRCh38:
- Chr11:128916657
| KCNJ5 | A396T | Cardiovascular phenotype, Long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Uncertain significance
(Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781576
- GRCh38:
- Chr11:128911681
| KCNJ5 | | Familial hyperaldosteronism type III, Long QT syndrome 13, Long QT syndrome,
Cardiovascular phenotype | Likely benign
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781906
- GRCh38:
- Chr11:128912011
| KCNJ5 | | not provided, Cardiovascular phenotype, Long QT syndrome 13,
Familial hyperaldosteronism type III, Long QT syndrome | Benign/Likely benign
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786515
- GRCh38:
- Chr11:128916620
| KCNJ5 | | Cardiovascular phenotype, Long QT syndrome 13, Familial hyperaldosteronism type III,
not provided, Long QT syndrome | Benign/Likely benign
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781963
- GRCh38:
- Chr11:128912068
| KCNJ5 | | not specified, Long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Likely benign
(Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781535
- GRCh38:
- Chr11:128911640
| KCNJ5 | D123N | Long QT syndrome 13, Familial hyperaldosteronism type III, Long QT syndrome
| Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781607
- GRCh38:
- Chr11:128911712
| KCNJ5 | E147K | not provided, Long QT syndrome, Cardiovascular phenotype,
Familial hyperaldosteronism type III, Long QT syndrome 13, not specified
| Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781833
- GRCh38:
- Chr11:128911938
| KCNJ5 | G222D | Familial hyperaldosteronism type III, Long QT syndrome 13, not provided,
Long QT syndrome | Uncertain significance
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786550
- GRCh38:
- Chr11:128916655
| KCNJ5 | D395A | Familial hyperaldosteronism type III, Long QT syndrome 13, Long QT syndrome
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128787562
- GRCh38:
- Chr11:128917667
| KCNJ5 | | Familial hyperaldosteronism type III, Congenital long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781912
- GRCh38:
- Chr11:128912017
| KCNJ5 | | Familial hyperaldosteronism type III, Long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13, Cardiovascular phenotype, Congenital long QT syndrome,
not provided | Benign/Likely benign
(Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781598
- GRCh38:
- Chr11:128911703
| KCNJ5 | I144V | Familial hyperaldosteronism type III, Long QT syndrome, Long QT syndrome 13,
Cardiovascular phenotype, Congenital long QT syndrome, not provided
| Conflicting interpretations of pathogenicity
(Jun 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:128781441
- GRCh38:
- Chr11:128911546
| KCNJ5 | | Cardiovascular phenotype, Congenital long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13, Long QT syndrome, Familial hyperaldosteronism,
not specified | Benign/Likely benign
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128761342
- GRCh38:
- Chr11:128891447
| KCNJ5 | | Familial hyperaldosteronism type III, Congenital long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Uncertain significance
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128761336-128761337
- GRCh38:
- Chr11:128891441-128891442
| KCNJ5 | | Congenital long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13,
Familial hyperaldosteronism | Uncertain significance
(Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128761336-128761337
- GRCh38:
- Chr11:128891441-128891442
| KCNJ5 | | Congenital long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13,
Familial hyperaldosteronism | Uncertain significance
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128761334-128761338
- GRCh38:
- Chr11:128891439-128891443
| KCNJ5 | | Familial hyperaldosteronism, Congenital long QT syndrome, Familial hyperaldosteronism type III,
Long QT syndrome 13 | Uncertain significance
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786490
- GRCh38:
- Chr11:128916595
| KCNJ5 | R375Q | Long QT syndrome, Long QT syndrome 13, Familial hyperaldosteronism type III,
Cardiovascular phenotype | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781993
- GRCh38:
- Chr11:128912098
| KCNJ5 | | Long QT syndrome, not provided, Cardiovascular phenotype,
Long QT syndrome 13, Familial hyperaldosteronism type III | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786294
- GRCh38:
- Chr11:128916399
| KCNJ5 | | Congenital long QT syndrome, not specified, Long QT syndrome,
Familial hyperaldosteronism type III, Long QT syndrome 13 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128782012
- GRCh38:
- Chr11:128912117
| KCNJ5 | Q282E | Cardiovascular phenotype, Congenital long QT syndrome, not specified,
Long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128782002
- GRCh38:
- Chr11:128912107
| KCNJ5 | | Cardiovascular phenotype, Congenital long QT syndrome, not specified,
Long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781978
- GRCh38:
- Chr11:128912083
| KCNJ5 | | Cardiovascular phenotype, Familial hyperaldosteronism type III, Long QT syndrome 13,
Congenital long QT syndrome, not specified, Long QT syndrome,
Familial hyperaldosteronism type III, Long QT syndrome 13 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128781339
- GRCh38:
- Chr11:128911444
| KCNJ5 | | Cardiovascular phenotype, Congenital long QT syndrome, not specified,
Long QT syndrome, Familial hyperaldosteronism type III, Long QT syndrome 13
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128786525
- GRCh38:
- Chr11:128916630
| KCNJ5 | G387R | Cardiovascular phenotype, Familial hyperaldosteronism type III, Long QT syndrome,
Long QT syndrome 13 | Conflicting interpretations of pathogenicity
(Nov 28, 2022) | criteria provided, conflicting interpretations |