U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 189

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:2606499
GRCh38:
Chr11:2585269
KCNQ1F237L, F274L, F364LAtrial 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
2.
GRCh37:
Chr11:2542764
GRCh38:
Chr11:2521534
KCNQ1S27TAtrial 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
3.
GRCh37:
Chr11:2798198
GRCh38:
Chr11:2776968
KCNQ1Long 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
4.
GRCh37:
Chr11:2683298
GRCh38:
Chr11:2662068
KCNQ1, KCNQ1OT1T501A, T374A, T469A, T411A, T321AAtrial 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
5.
GRCh37:
Chr11:2591939
GRCh38:
Chr11:2570709
KCNQ1L187F, L60F, L97FLong 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
6.
GRCh37:
Chr11:2869066
GRCh38:
Chr11:2847836
KCNQ1, KCNQ1-AS1G495S, G622S, G442S, G532S, G126S, G590Snot 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
7.
GRCh37:
Chr11:2466525
GRCh38:
Chr11:2445295
KCNQ1S66YCardiovascular 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
8.
GRCh37:
Chr11:2869138
GRCh38:
Chr11:2847908
KCNQ1, KCNQ1-AS1G646S, G519S, G150S, G556S, G614S, G466SCardiovascular 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
9.
GRCh37:
Chr11:2683253
GRCh38:
Chr11:2662023
KCNQ1, KCNQ1OT1A359T, A486T, A396T, A454T, A306Tnot 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
10.
GRCh37:
Chr11:2594155
GRCh38:
Chr11:2572925
KCNQ1A160V, A287V, A197VLong 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
11.
GRCh37:
Chr11:2869106
GRCh38:
Chr11:2847876
KCNQ1, KCNQ1-AS1G635E, G508E, G545E, G603E, G139E, G455ELong 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
12.
GRCh37:
Chr11:2799238
GRCh38:
Chr11:2778008
KCNQ1G462S, G589S, G409S, G557S, G93S, G499SLong 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
13.
GRCh37:
Chr11:2869126
GRCh38:
Chr11:2847896
KCNQ1, KCNQ1-AS1C515R, C642R, C610R, C146R, C462R, C552RLong 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
14.
GRCh37:
Chr11:2608848
GRCh38:
Chr11:2587618
KCNQ1K266E, K393E, K213E, K303E, K361EJervell 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
15.
GRCh37:
Chr11:2868987
GRCh38:
Chr11:2847757
KCNQ1, KCNQ1-AS1Long 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
16.
GRCh37:
Chr11:2608909
GRCh38:
Chr11:2587679
KCNQ1K413R, K286R, K233R, K323R, K381RJervell 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
17.
GRCh37:
Chr11:2869963
GRCh38:
Chr11:2848733
KCNQ1, KCNQ1-AS1Long 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
18.
GRCh37:
Chr11:2869528
GRCh38:
Chr11:2848298
KCNQ1, KCNQ1-AS1Long 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
19.
GRCh37:
Chr11:2869358
GRCh38:
Chr11:2848128
KCNQ1, KCNQ1-AS1Jervell 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
20.
GRCh37:
Chr11:2869314
GRCh38:
Chr11:2848084
KCNQ1, KCNQ1-AS1Jervell 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
21.
GRCh37:
Chr11:2683178
GRCh38:
Chr11:2661948
KCNQ1, KCNQ1OT1Long 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
22.
GRCh37:
Chr11:2593351
GRCh38:
Chr11:2572121
KCNQ1Long 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
23.
GRCh37:
Chr11:2466515
GRCh38:
Chr11:2445285
KCNQ1P63TLong 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
24.
GRCh37:
Chr11:2869523
GRCh38:
Chr11:2848293
KCNQ1, KCNQ1-AS1Jervell 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
25.
GRCh37:
Chr11:2869299
GRCh38:
Chr11:2848069
KCNQ1, KCNQ1-AS1Long 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
26.
GRCh37:
Chr11:2869097
GRCh38:
Chr11:2847867
KCNQ1, KCNQ1-AS1R505K, R632K, R542K, R136K, R452K, R600KJervell 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
27.
GRCh37:
Chr11:2790162
GRCh38:
Chr11:2768932
KCNQ1Long 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
28.
GRCh37:
Chr11:2869473
GRCh38:
Chr11:2848243
KCNQ1, KCNQ1-AS1Short 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
29.
GRCh37:
Chr11:2594228
GRCh38:
Chr11:2572998
KCNQ1Long 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
30.
GRCh37:
Chr11:2593228
GRCh38:
Chr11:2571998
KCNQ1Long 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
31.
GRCh37:
Chr11:2466274
GRCh38:
Chr11:2445044
KCNQ1Long 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
32.
GRCh37:
Chr11:2869865
GRCh38:
Chr11:2848635
KCNQ1, KCNQ1-AS1Atrial 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
33.
GRCh37:
Chr11:2591914
GRCh38:
Chr11:2570684
KCNQ1Cardiovascular 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
34.
GRCh37:
Chr11:2549146
GRCh38:
Chr11:2527916
KCNQ1Atrial 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
35.
GRCh37:
Chr11:2608821
GRCh38:
Chr11:2587591
KCNQ1A384T, A257T, A352T, A204T, A294TShort 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
36.
GRCh37:
Chr11:2466369
GRCh38:
Chr11:2445139
KCNQ1R14LCardiovascular 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
37.
GRCh37:
Chr11:2869032
GRCh38:
Chr11:2847802
KCNQ1, KCNQ1-AS1Cardiac 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
38.
GRCh37:
Chr11:2606518
GRCh38:
Chr11:2585288
KCNQ1A243V, A370V, A280VLong 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
39.
GRCh37:
Chr11:2610068
GRCh38:
Chr11:2588838
KCNQ1Long 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
40.
GRCh37:
Chr11:2610066
GRCh38:
Chr11:2588836
KCNQ1D332N, D459N, D279N, D369N, D427Nnot 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
41.
GRCh37:
Chr11:2591954
GRCh38:
Chr11:2570724
KCNQ1R65C, R192C, R102CCardiovascular 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
42.
GRCh37:
Chr11:2790079
GRCh38:
Chr11:2768849
KCNQ1R380Q, R507Q, R327Q, R417Q, R475QAtrial 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
43.
GRCh37:
Chr11:2683255
GRCh38:
Chr11:2662025
KCNQ1, KCNQ1OT1Atrial 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
44.
GRCh37:
Chr11:2592594
GRCh38:
Chr11:2571364
KCNQ1V215G, V88G, V125GLong 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
45.
GRCh37:
Chr11:2869104-2869105
GRCh38:
Chr11:2847874-2847875
KCNQ1, KCNQ1-AS1A509fs, A636fsLong 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
46.
GRCh37:
Chr11:2466525-2466535
GRCh38:
Chr11:2445295-2445305
KCNQ1P67fsLong 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
47.
GRCh37:
Chr11:2869087
GRCh38:
Chr11:2847857
KCNQ1, KCNQ1-AS1G502S, G629S, G133S, G597S, G449S, G539Snot 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
48.
GRCh37:
Chr11:2591873
GRCh38:
Chr11:2570643
KCNQ1V165M, V38M, V75MLong 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
49.
GRCh37:
Chr11:2683228
GRCh38:
Chr11:2661998
KCNQ1, KCNQ1OT1Cardiac 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
50.
GRCh37:
Chr11:2592598
GRCh38:
Chr11:2571368
KCNQ1Cardiac 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
51.
GRCh37:
Chr11:2591886
GRCh38:
Chr11:2570656
KCNQ1T169M, T42M, T79MCardiac 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
52.
GRCh37:
Chr11:2594194
GRCh38:
Chr11:2572964
KCNQ1A300E, A173E, A210EShort 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
53.
GRCh37:
Chr11:2610023
GRCh38:
Chr11:2588793
KCNQ1Long 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
54.
GRCh37:
Chr11:2466728
GRCh38:
Chr11:2445498
KCNQ1not 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
55.
GRCh37:
Chr11:2610040
GRCh38:
Chr11:2588810
KCNQ1E323G, E450G, E360G, E270G, E418GLong 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
56.
GRCh37:
Chr11:2870321
GRCh38:
Chr11:2849091
KCNQ1, KCNQ1-AS1Short 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
57.
GRCh37:
Chr11:2870288
GRCh38:
Chr11:2849058
KCNQ1, KCNQ1-AS1Short 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
58.
GRCh37:
Chr11:2870258
GRCh38:
Chr11:2849028
KCNQ1, KCNQ1-AS1Short 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
59.
GRCh37:
Chr11:2870208
GRCh38:
Chr11:2848978
KCNQ1, KCNQ1-AS1Short 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
60.
GRCh37:
Chr11:2870165
GRCh38:
Chr11:2848935
KCNQ1, KCNQ1-AS1Short 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
61.
GRCh37:
Chr11:2870137
GRCh38:
Chr11:2848907
KCNQ1, KCNQ1-AS1Short 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
62.
GRCh37:
Chr11:2870110
GRCh38:
Chr11:2848880
KCNQ1, KCNQ1-AS1Short 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
63.
GRCh37:
Chr11:2870108
GRCh38:
Chr11:2848878
KCNQ1, KCNQ1-AS1Short 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
64.
GRCh37:
Chr11:2870070
GRCh38:
Chr11:2848840
KCNQ1, KCNQ1-AS1Short 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
65.
GRCh37:
Chr11:2870039
GRCh38:
Chr11:2848809
KCNQ1, KCNQ1-AS1Short 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
66.
GRCh37:
Chr11:2869975
GRCh38:
Chr11:2848745
KCNQ1, KCNQ1-AS1Short 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
67.
GRCh37:
Chr11:2869964
GRCh38:
Chr11:2848734
KCNQ1, KCNQ1-AS1Congenital 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
68.
GRCh37:
Chr11:2869950
GRCh38:
Chr11:2848720
KCNQ1, KCNQ1-AS1Short 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
69.
GRCh37:
Chr11:2869945
GRCh38:
Chr11:2848715
KCNQ1, KCNQ1-AS1Short 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
70.
GRCh37:
Chr11:2869885
GRCh38:
Chr11:2848655
KCNQ1, KCNQ1-AS1Short 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
71.
GRCh37:
Chr11:2869866
GRCh38:
Chr11:2848636
KCNQ1, KCNQ1-AS1Short 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
72.
GRCh37:
Chr11:2869814
GRCh38:
Chr11:2848584
KCNQ1, KCNQ1-AS1Short 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
73.
GRCh37:
Chr11:2869772
GRCh38:
Chr11:2848542
KCNQ1, KCNQ1-AS1Short 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
74.
GRCh37:
Chr11:2869715
GRCh38:
Chr11:2848485
KCNQ1, KCNQ1-AS1Congenital 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
75.
GRCh37:
Chr11:2869712
GRCh38:
Chr11:2848482
KCNQ1, KCNQ1-AS1Short 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
76.
GRCh37:
Chr11:2869697
GRCh38:
Chr11:2848467
KCNQ1, KCNQ1-AS1Short 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
77.
GRCh37:
Chr11:2869644
GRCh38:
Chr11:2848414
KCNQ1, KCNQ1-AS1Short 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
78.
GRCh37:
Chr11:2869625
GRCh38:
Chr11:2848395
KCNQ1, KCNQ1-AS1Short 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
79.
GRCh37:
Chr11:2869624
GRCh38:
Chr11:2848394
KCNQ1, KCNQ1-AS1Short 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
80.
GRCh37:
Chr11:2869583
GRCh38:
Chr11:2848353
KCNQ1, KCNQ1-AS1Congenital 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
81.
GRCh37:
Chr11:2869538
GRCh38:
Chr11:2848308
KCNQ1, KCNQ1-AS1Congenital 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
82.
GRCh37:
Chr11:2869499
GRCh38:
Chr11:2848269
KCNQ1, KCNQ1-AS1Congenital 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
83.
GRCh37:
Chr11:2869497
GRCh38:
Chr11:2848267
KCNQ1, KCNQ1-AS1Congenital 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
84.
GRCh37:
Chr11:2869452
GRCh38:
Chr11:2848222
KCNQ1, KCNQ1-AS1Atrial 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
85.
GRCh37:
Chr11:2869404
GRCh38:
Chr11:2848174
KCNQ1, KCNQ1-AS1Atrial 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
86.
GRCh37:
Chr11:2869280
GRCh38:
Chr11:2848050
KCNQ1, KCNQ1-AS1Atrial 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
87.
GRCh37:
Chr11:2799279
GRCh38:
Chr11:2778049
KCNQ1Short 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
88.
GRCh37:
Chr11:2683320
GRCh38:
Chr11:2662090
KCNQ1, KCNQ1OT1Congenital 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
89.
GRCh37:
Chr11:2604715
GRCh38:
Chr11:2583485
KCNQ1Cardiac 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
90.
GRCh37:
Chr11:2549151
GRCh38:
Chr11:2527921
KCNQ1Cardiac 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
91.
GRCh37:
Chr11:2466291
GRCh38:
Chr11:2445061
KCNQ1Short 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
92.
GRCh37:
Chr11:2466260
GRCh38:
Chr11:2445030
KCNQ1Short 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
93.
GRCh37:
Chr11:2466673
GRCh38:
Chr11:2445443
KCNQ1Cardiovascular 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
94.
GRCh37:
Chr11:2869077
GRCh38:
Chr11:2847847
KCNQ1, KCNQ1-AS1Cardiac 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
95.
GRCh37:
Chr11:2608873
GRCh38:
Chr11:2587643
KCNQ1R274Q, R401Q, R221Q, R311Q, R369QLong 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
96.
GRCh37:
Chr11:2608823
GRCh38:
Chr11:2587593
KCNQ1not 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
97.
GRCh37:
Chr11:2466624
GRCh38:
Chr11:2445394
KCNQ1P99RCardiovascular 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
98.
GRCh37:
Chr11:2466570
GRCh38:
Chr11:2445340
KCNQ1P81LCardiovascular 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
99.
GRCh37:
Chr11:2610027
GRCh38:
Chr11:2588797
KCNQ1D319N, D446N, D356N, D414N, D266NCardiovascular 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
100.
GRCh37:
Chr11:2606542
GRCh38:
Chr11:2585312
KCNQ1Cardiovascular 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
Format
Items per page
Sort by
Choose Destination