| - GRCh37:
- Chr11:2606499
- GRCh38:
- Chr11:2585269
| KCNQ1 | F237L, F274L, F364L | Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2 | 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:
- Chr11:2798198
- 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:
- Chr11:2683298
- GRCh38:
- Chr11:2662068
| KCNQ1, KCNQ1OT1 | T501A, T374A, T469A, T411A, T321A | Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome
| Uncertain significance (Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2591939
- GRCh38:
- Chr11:2570709
| KCNQ1 | L187F, L60F, L97F | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Beckwith-Wiedemann syndrome, Atrial fibrillation, familial, 3, not provided, Cardiovascular phenotype | Uncertain significance (Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869066
- GRCh38:
- Chr11:2847836
| KCNQ1, KCNQ1-AS1 | G495S, G622S, G442S, G532S, G126S, G590S | not provided, Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome 1 | Uncertain significance (Jun 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2466525
- GRCh38:
- Chr11:2445295
| KCNQ1 | S66Y | Cardiovascular phenotype, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, not provided, Long QT syndrome | Uncertain significance (Nov 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869138
- GRCh38:
- Chr11:2847908
| KCNQ1, KCNQ1-AS1 | G646S, G519S, G150S, G556S, G614S, G466S | Cardiovascular phenotype, Long QT syndrome, Cardiac arrhythmia, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome | Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2683253
- GRCh38:
- Chr11:2662023
| KCNQ1, KCNQ1OT1 | A359T, A486T, A396T, A454T, A306T | not provided, Long QT syndrome, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Cardiac arrhythmia | Uncertain significance (May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2594155
- GRCh38:
- Chr11:2572925
| KCNQ1 | A160V, A287V, A197V | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia | Uncertain significance (Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869106
- GRCh38:
- Chr11:2847876
| KCNQ1, KCNQ1-AS1 | G635E, G508E, G545E, G603E, G139E, G455E | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia, Polymorphic ventricular tachycardia
| Uncertain significance (Mar 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2799238
- GRCh38:
- Chr11:2778008
| KCNQ1 | G462S, G589S, G409S, G557S, G93S, G499S | Long QT syndrome, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, not provided, Cardiac arrhythmia, not specified
| Conflicting interpretations of pathogenicity (Jun 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2869126
- GRCh38:
- Chr11:2847896
| KCNQ1, KCNQ1-AS1 | C515R, C642R, C610R, C146R, C462R, C552R | Long QT syndrome, Cardiac arrhythmia, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3
| Uncertain significance (Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2608848
- GRCh38:
- Chr11:2587618
| KCNQ1 | K266E, K393E, K213E, K303E, K361E | Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2, Cardiac arrhythmia
| Uncertain significance (May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2868987
- GRCh38:
- Chr11:2847757
| KCNQ1, KCNQ1-AS1 | | Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2, Cardiac arrhythmia | Likely benign (Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2608909
- GRCh38:
- Chr11:2587679
| KCNQ1 | K413R, K286R, K233R, K323R, K381R | Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2, Cardiovascular phenotype, Cardiac arrhythmia | Uncertain significance (Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869963
- GRCh38:
- Chr11:2848733
| KCNQ1, KCNQ1-AS1 | | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869528
- GRCh38:
- Chr11:2848298
| KCNQ1, KCNQ1-AS1 | | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869358
- GRCh38:
- Chr11:2848128
| KCNQ1, KCNQ1-AS1 | | Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869314
- GRCh38:
- Chr11:2848084
| KCNQ1, KCNQ1-AS1 | | Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2683178
- GRCh38:
- Chr11:2661948
| KCNQ1, KCNQ1OT1 | | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Short QT syndrome type 2 | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2593351
- GRCh38:
- Chr11:2572121
| KCNQ1 | | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome, Short QT syndrome type 2, Atrial fibrillation, familial, 3 | Conflicting interpretations of pathogenicity (Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2466515
- GRCh38:
- Chr11:2445285
| KCNQ1 | P63T | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869523
- GRCh38:
- Chr11:2848293
| KCNQ1, KCNQ1-AS1 | | Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869299
- GRCh38:
- Chr11:2848069
| KCNQ1, KCNQ1-AS1 | | Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869097
- GRCh38:
- Chr11:2847867
| KCNQ1, KCNQ1-AS1 | R505K, R632K, R542K, R136K, R452K, R600K | Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2790162
- GRCh38:
- Chr11:2768932
| KCNQ1 | | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869473
- GRCh38:
- Chr11:2848243
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2594228
- GRCh38:
- Chr11:2572998
| KCNQ1 | | Long QT syndrome, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Conflicting interpretations of pathogenicity (Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2593228
- GRCh38:
- Chr11:2571998
| KCNQ1 | | Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2466274
- GRCh38:
- Chr11:2445044
| KCNQ1 | | Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869865
- GRCh38:
- Chr11:2848635
| KCNQ1, KCNQ1-AS1 | | Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1 | Benign/Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2591914
- GRCh38:
- Chr11:2570684
| KCNQ1 | | Cardiovascular phenotype, Long QT syndrome, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1
| Conflicting interpretations of pathogenicity (Jan 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2549146
- GRCh38:
- Chr11:2527916
| KCNQ1 | | Atrial fibrillation, familial, 3, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2608821
- GRCh38:
- Chr11:2587591
| KCNQ1 | A384T, A257T, A352T, A204T, A294T | Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Long QT syndrome
| Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2466369
- GRCh38:
- Chr11:2445139
| KCNQ1 | R14L | Cardiovascular phenotype, Long QT syndrome 1, Long QT syndrome, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, not provided, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3Short QT syndrome type 2, ...see more | Uncertain significance (Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869032
- GRCh38:
- Chr11:2847802
| KCNQ1, KCNQ1-AS1 | | Cardiac arrhythmia, Long QT syndrome, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1
| Conflicting interpretations of pathogenicity (Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2606518
- GRCh38:
- Chr11:2585288
| KCNQ1 | A243V, A370V, A280V | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, not provided, Cardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome
| Conflicting interpretations of pathogenicity (Aug 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2610068
- GRCh38:
- Chr11:2588838
| KCNQ1 | | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Cardiovascular phenotype, Cardiac arrhythmia | Likely benign (Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2610066
- GRCh38:
- Chr11:2588836
| KCNQ1 | D332N, D459N, D279N, D369N, D427N | not provided, Cardiovascular phenotype, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Cardiac arrhythmia, Long QT syndrome | Conflicting interpretations of pathogenicity (Jul 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2591954
- GRCh38:
- Chr11:2570724
| KCNQ1 | R65C, R192C, R102C | Cardiovascular phenotype, Long QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome 1, not specified, Cardiac arrhythmia
| Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2790079
- GRCh38:
- Chr11:2768849
| KCNQ1 | R380Q, R507Q, R327Q, R417Q, R475Q | Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome, Cardiac arrhythmia, Long QT syndrome 1, Cardiovascular phenotype
| Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2683255
- GRCh38:
- Chr11:2662025
| KCNQ1, KCNQ1OT1 | | Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome 1, Cardiovascular phenotype, not specified, Long QT syndrome, Cardiac arrhythmia
| Likely benign (Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2592594
- GRCh38:
- Chr11:2571364
| KCNQ1 | V215G, V88G, V125G | Long QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1
| Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2869104-2869105
- GRCh38:
- Chr11:2847874-2847875
| KCNQ1, KCNQ1-AS1 | A509fs, A636fs | Long QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1
| Uncertain significance (Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2466525-2466535
- GRCh38:
- Chr11:2445295-2445305
| KCNQ1 | P67fs | Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, not provided, Cardiovascular phenotype, Long QT syndrome 1, Long QT syndrome
| Pathogenic/Likely pathogenic (Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869087
- GRCh38:
- Chr11:2847857
| KCNQ1, KCNQ1-AS1 | G502S, G629S, G133S, G597S, G449S, G539S | not specified, Long QT syndrome, Cardiac arrhythmia, Long QT syndrome 1, Short QT syndrome type 2, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, not provided, Brugada syndrome | Uncertain significance (Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2591873
- GRCh38:
- Chr11:2570643
| KCNQ1 | V165M, V38M, V75M | Long QT syndrome, Cardiac arrhythmia, not provided, Long QT syndrome 1, Short QT syndrome type 2, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3 | Uncertain significance (Jan 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2683228
- GRCh38:
- Chr11:2661998
| KCNQ1, KCNQ1OT1 | | Cardiac arrhythmia, not provided, Cardiovascular phenotype, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome
| Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2592598
- GRCh38:
- Chr11:2571368
| KCNQ1 | | Cardiac arrhythmia, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Cardiovascular phenotype, not specified, Long QT syndrome, Short QT syndrome type 2 | Conflicting interpretations of pathogenicity (Jul 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2591886
- GRCh38:
- Chr11:2570656
| KCNQ1 | T169M, T42M, T79M | Cardiac arrhythmia, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome 1, Long QT syndromeLong QT syndrome 1, ...see more | Uncertain significance (Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2594194
- GRCh38:
- Chr11:2572964
| KCNQ1 | A300E, A173E, A210E | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Long QT syndrome, not provided
| Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2610023
- GRCh38:
- Chr11:2588793
| KCNQ1 | | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, not specified, Long QT syndrome, not provided, Cardiovascular phenotype, Cardiac arrhythmia | Benign/Likely benign (Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2466728
- GRCh38:
- Chr11:2445498
| KCNQ1 | | not provided, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, not specified, Long QT syndrome | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2610040
- GRCh38:
- Chr11:2588810
| KCNQ1 | E323G, E450G, E360G, E270G, E418G | Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, not provided, Cardiac arrhythmia, Long QT syndrome | Uncertain significance (Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2870321
- GRCh38:
- Chr11:2849091
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2870288
- GRCh38:
- Chr11:2849058
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2870258
- GRCh38:
- Chr11:2849028
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2870208
- GRCh38:
- Chr11:2848978
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, not provided, Jervell and Lange-Nielsen syndrome 1 | Likely benign (Sep 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2870165
- GRCh38:
- Chr11:2848935
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome, Long QT syndrome 1 | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2870137
- GRCh38:
- Chr11:2848907
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2870110
- GRCh38:
- Chr11:2848880
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2870108
- GRCh38:
- Chr11:2848878
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, not provided, Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2870070
- GRCh38:
- Chr11:2848840
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, not provided, Long QT syndrome 1
| Conflicting interpretations of pathogenicity (May 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2870039
- GRCh38:
- Chr11:2848809
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Benign/Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869975
- GRCh38:
- Chr11:2848745
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, not provided
| Benign/Likely benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869964
- GRCh38:
- Chr11:2848734
| KCNQ1, KCNQ1-AS1 | | Congenital long QT syndrome, not provided, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1
| Benign/Likely benign (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869950
- GRCh38:
- Chr11:2848720
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2869945
- GRCh38:
- Chr11:2848715
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869885
- GRCh38:
- Chr11:2848655
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869866
- GRCh38:
- Chr11:2848636
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869814
- GRCh38:
- Chr11:2848584
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869772
- GRCh38:
- Chr11:2848542
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869715
- GRCh38:
- Chr11:2848485
| KCNQ1, KCNQ1-AS1 | | Congenital long QT syndrome, Long QT syndrome 1, Short QT syndrome type 2, not provided, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1
| Benign/Likely benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869712
- GRCh38:
- Chr11:2848482
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, not provided, Long QT syndrome, Atrial fibrillation, familial, 3 | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869697
- GRCh38:
- Chr11:2848467
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Congenital long QT syndrome, Long QT syndrome 1, not provided, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1
| Benign/Likely benign (May 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869644
- GRCh38:
- Chr11:2848414
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Congenital long QT syndrome, Long QT syndrome 1, not provided, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1
| Benign/Likely benign (May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869625
- GRCh38:
- Chr11:2848395
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Congenital long QT syndrome, Long QT syndrome 1, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869624
- GRCh38:
- Chr11:2848394
| KCNQ1, KCNQ1-AS1 | | Short QT syndrome type 2, Congenital long QT syndrome, Long QT syndrome 1, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2869583
- GRCh38:
- Chr11:2848353
| KCNQ1, KCNQ1-AS1 | | Congenital long QT syndrome, Short QT syndrome type 2, Long QT syndrome 1, not provided, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1
| Benign/Likely benign (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869538
- GRCh38:
- Chr11:2848308
| KCNQ1, KCNQ1-AS1 | | Congenital long QT syndrome, Short QT syndrome type 2, Long QT syndrome 1, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1 | Benign/Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869499
- GRCh38:
- Chr11:2848269
| KCNQ1, KCNQ1-AS1 | | Congenital long QT syndrome, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2869497
- GRCh38:
- Chr11:2848267
| KCNQ1, KCNQ1-AS1 | | Congenital long QT syndrome, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3 | Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869452
- GRCh38:
- Chr11:2848222
| KCNQ1, KCNQ1-AS1 | | Atrial fibrillation, familial, 3, Short QT syndrome type 2, Congenital long QT syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, not provided
| Benign/Likely benign (Jun 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869404
- GRCh38:
- Chr11:2848174
| KCNQ1, KCNQ1-AS1 | | Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2869280
- GRCh38:
- Chr11:2848050
| KCNQ1, KCNQ1-AS1 | | Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2799279
- GRCh38:
- Chr11:2778049
| KCNQ1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2683320
- GRCh38:
- Chr11:2662090
| KCNQ1, KCNQ1OT1 | | Congenital long QT syndrome, Long QT syndrome, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Long QT syndrome 1
| Conflicting interpretations of pathogenicity (Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2604715
- GRCh38:
- Chr11:2583485
| KCNQ1 | | Cardiac arrhythmia, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome, Cardiovascular phenotype, Atrial fibrillation, familial, 3 | Benign/Likely benign (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2549151
- GRCh38:
- Chr11:2527921
| KCNQ1 | | Cardiac arrhythmia, not provided, Congenital long QT syndrome, Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1 | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2466291
- GRCh38:
- Chr11:2445061
| KCNQ1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Congenital long QT syndrome, not provided
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2466260
- GRCh38:
- Chr11:2445030
| KCNQ1 | | Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Atrial fibrillation, familial, 3, Long QT syndrome 1 | Uncertain significance (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2466673
- GRCh38:
- Chr11:2445443
| KCNQ1 | | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1 | Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2869077
- GRCh38:
- Chr11:2847847
| KCNQ1, KCNQ1-AS1 | | Cardiac arrhythmia, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Cardiovascular phenotype, not provided, Long QT syndrome, not specified
| Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2608873
- GRCh38:
- Chr11:2587643
| KCNQ1 | R274Q, R401Q, R221Q, R311Q, R369Q | Long QT syndrome, not specified, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1 | Uncertain significance (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2608823
- GRCh38:
- Chr11:2587593
| KCNQ1 | | not provided, Cardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Short QT syndrome type 2, Long QT syndrome 1 | Conflicting interpretations of pathogenicity (Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:2466624
- GRCh38:
- Chr11:2445394
| KCNQ1 | P99R | Cardiovascular phenotype, Long QT syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, not provided, Long QT syndrome | Uncertain significance (May 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2466570
- GRCh38:
- Chr11:2445340
| KCNQ1 | P81L | Cardiovascular phenotype, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, not provided, Long QT syndrome | Uncertain significance (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2610027
- GRCh38:
- Chr11:2588797
| KCNQ1 | D319N, D446N, D356N, D414N, D266N | Cardiovascular phenotype, Cardiac arrhythmia, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, not provided, Long QT syndrome
| Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2606542
- GRCh38:
- Chr11:2585312
| KCNQ1 | | Cardiovascular phenotype, Cardiac arrhythmia, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2, not provided, Long QT syndrome, Hearing impairment | Conflicting interpretations of pathogenicity (Jan 11, 2023) | criteria provided, conflicting interpretations |