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Items: 1 to 100 of 213

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, T321ALong QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome,
Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1
Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:2606515
GRCh38:
Chr11:2585285
KCNQ1P242L, P369L, P279Lnot provided, Jervell and Lange-Nielsen syndrome 1Uncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
6.
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
7.
GRCh37:
Chr11:2868995
GRCh38:
Chr11:2847765
KCNQ1, KCNQ1-AS1Cardiovascular phenotype, Long QT syndromeConflicting interpretations of pathogenicity
(Aug 13, 2022)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr11:2798207
GRCh38:
Chr11:2776977
KCNQ1Jervell and Lange-Nielsen syndrome 1Likely pathogenic
(Oct 27, 2020)		criteria provided, single submitter
9.
GRCh37:
Chr11:2869084
GRCh38:
Chr11:2847854
KCNQ1, KCNQ1-AS1G501S, G628S, G538S, G448S, G132S, G596SCardiovascular phenotype, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1,
Long QT syndrome 1		Uncertain significance
(Feb 16, 2023)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:2466354
GRCh38:
Chr11:2445124
KCNQ1R9TJervell and Lange-Nielsen syndrome 1, Long QT syndrome 1Uncertain significancecriteria provided, single submitter
11.
GRCh37:
Chr11:2797263-2797275
GRCh38:
Chr11:2776033-2776045
KCNQ1I429fs, I556fsJervell and Lange-Nielsen syndrome 1Uncertain significance
(Mar 26, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr11:2869066
GRCh38:
Chr11:2847836
KCNQ1-AS1, KCNQ1G495S, G622S, G442S, G532S, G126S, G590SAtrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome
Uncertain significance
(May 30, 2022)		criteria provided, multiple submitters, no conflicts
13.
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
14.
GRCh37:
Chr11:2869138
GRCh38:
Chr11:2847908
KCNQ1, KCNQ1-AS1G646S, G519S, G150S, G556S, G614S, G466SAtrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Cardiac arrhythmia,
Cardiovascular phenotype, Long QT syndrome		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr11:2683253
GRCh38:
Chr11:2662023
KCNQ1, KCNQ1OT1A359T, A486T, A396T, A454T, A306TCardiac arrhythmia, 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
(May 5, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:2594155
GRCh38:
Chr11:2572925
KCNQ1A160V, A287V, A197VAtrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Cardiac arrhythmia,
Cardiovascular phenotype, Long QT syndrome		Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:2869106
GRCh38:
Chr11:2847876
KCNQ1, KCNQ1-AS1G635E, G508E, G545E, G603E, G139E, G455ECardiac arrhythmia, Polymorphic ventricular tachycardia, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1,
Short QT syndrome type 2, Cardiovascular phenotype, Long QT syndrome
Uncertain significance
(Feb 15, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr11:2799238
GRCh38:
Chr11:2778008
KCNQ1G462S, G589S, G409S, G557S, G93S, G499SCardiac arrhythmia, 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		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr11:2869126
GRCh38:
Chr11:2847896
KCNQ1, KCNQ1-AS1C515R, C642R, C610R, C146R, C462R, C552RCardiac arrhythmia, Atrial fibrillation, familial, 3, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome
Uncertain significance
(Apr 20, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:2608848
GRCh38:
Chr11:2587618
KCNQ1K266E, K393E, K213E, K303E, K361ECardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2
Uncertain significance
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:2868987
GRCh38:
Chr11:2847757
KCNQ1, KCNQ1-AS1Cardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2,
Long QT syndrome		Likely benign
(Apr 25, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:2608909
GRCh38:
Chr11:2587679
KCNQ1K413R, K286R, K233R, K323R, K381RCardiac arrhythmia, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 1,
Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1,
Short QT syndrome type 2		Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
23.
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
24.
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
25.
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
26.
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
27.
GRCh37:
Chr11:2683178
GRCh38:
Chr11:2661948
KCNQ1, KCNQ1OT1Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1, Short QT syndrome type 2,
Atrial fibrillation, familial, 3		Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
GRCh37:
Chr11:2869032
GRCh38:
Chr11:2847802
KCNQ1, KCNQ1-AS1Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Short QT syndrome type 2,
Cardiac arrhythmia, Long QT syndrome, Long QT syndrome 1
Conflicting interpretations of pathogenicity
(Sep 29, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr11:2606518
GRCh38:
Chr11:2585288
KCNQ1A243V, A370V, A280VCardiac arrhythmia, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 1,
Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Aug 5, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr11:2610068
GRCh38:
Chr11:2588838
KCNQ1Cardiovascular phenotype, Cardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1,
Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome		Likely benign
(Aug 13, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:2610066
GRCh38:
Chr11:2588836
KCNQ1D332N, D459N, D279N, D369N, D427NCardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome 1,
Long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 1,
Atrial fibrillation, familial, 3, Short QT syndrome type 2		Conflicting interpretations of pathogenicity
(Jun 27, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:2591954
GRCh38:
Chr11:2570724
KCNQ1R65C, R192C, R102CCardiovascular phenotype, Cardiac arrhythmia, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2,
Long QT syndrome 1, not specified, Long QT syndrome
Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:2790079
GRCh38:
Chr11:2768849
KCNQ1R380Q, R507Q, R327Q, R417Q, R475QCardiovascular phenotype, Cardiac arrhythmia, 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, Long QT syndrome 1
Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:2798265
GRCh38:
Chr11:2777035
KCNQ1Jervell and Lange-Nielsen syndrome 1Pathogenicno assertion criteria provided
50.
GRCh37:
Chr11:2683255
GRCh38:
Chr11:2662025
KCNQ1, KCNQ1OT1Cardiac arrhythmia, 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 specified, Long QT syndrome
Likely benign
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:2683221-2683224
GRCh38:
Chr11:2661991-2661994
KCNQ1, KCNQ1OT1M349fs, M476fsJervell and Lange-Nielsen syndrome 1Pathogenicno assertion criteria provided
52.
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
53.
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
54.
GRCh37:
Chr11:2466525-2466535
GRCh38:
Chr11:2445295-2445305
KCNQ1P67fsCardiovascular phenotype, not provided, Long QT syndrome,
Long QT syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome,
Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2		Pathogenic/Likely pathogenic
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:2593291-2593292
GRCh38:
Chr11:2572061-2572062
KCNQ1G118fs, G245fsAbnormality of the cardiovascular systemPathogenic
(Jul 10, 2021)		criteria provided, single submitter
56.
GRCh37:
Chr11:2790091
GRCh38:
Chr11:2768861
KCNQ1A385fs, A512fsJervell and Lange-Nielsen syndrome 1Pathogeniccriteria provided, single submitter
57.
GRCh37:
Chr11:2869087
GRCh38:
Chr11:2847857
KCNQ1, KCNQ1-AS1G502S, G629S, G133S, G597S, G449S, G539SCardiac arrhythmia, Brugada syndrome, Jervell and Lange-Nielsen syndrome 1,
Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, not specified, not provided,
Long QT syndrome		Uncertain significance
(Dec 8, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:2591873
GRCh38:
Chr11:2570643
KCNQ1V165M, V38M, V75MCardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1,
Short QT syndrome type 2, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome,
not provided, Long QT syndrome		Uncertain significance
(Jan 5, 2023)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:2683228
GRCh38:
Chr11:2661998
KCNQ1, KCNQ1OT1Cardiovascular phenotype, Cardiac arrhythmia, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, not provided, Long QT syndrome
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:2592598
GRCh38:
Chr11:2571368
KCNQ1not specified, Cardiovascular phenotype, Cardiac arrhythmia,
Long QT syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1,
Atrial fibrillation, familial, 3, Short QT syndrome type 2		Conflicting interpretations of pathogenicity
(Jul 21, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr11:2591886
GRCh38:
Chr11:2570656
KCNQ1T169M, T42M, T79MCardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2,
Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Long QT syndrome 1,
Short QT syndrome type 2, Long QT syndromeLong QT syndrome 1,
...see more		Uncertain significance
(Aug 28, 2022)		criteria provided, multiple submitters, no conflicts
62.
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
63.
GRCh37:
Chr11:2610023
GRCh38:
Chr11:2588793
KCNQ1Cardiovascular phenotype, Cardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1,
Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3,
Beckwith-Wiedemann syndrome, not provided, Long QT syndrome,
not specified		Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
64.
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
65.
GRCh37:
Chr11:2466443
GRCh38:
Chr11:2445213
KCNQ1E39*Jervell and Lange-Nielsen syndrome 1Pathogenic
(Jan 5, 2017)		no assertion criteria provided
66.
GRCh37:
Chr11:2610040
GRCh38:
Chr11:2588810
KCNQ1E323G, E450G, E360G, E270G, E418GCardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1,
Short QT syndrome type 2, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome,
not provided, Long QT syndrome		Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
67.
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
68.
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
69.
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
70.
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
71.
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
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
GRCh37:
Chr11:2869964
GRCh38:
Chr11:2848734
KCNQ1, KCNQ1-AS1not provided, Congenital long QT syndrome, 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
79.
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
80.
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
81.
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
82.
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
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
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
91.
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
92.
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
93.
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
94.
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
95.
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
96.
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
97.
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
98.
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
99.
GRCh37:
Chr11:2683320
GRCh38:
Chr11:2662090
KCNQ1, KCNQ1OT1Long QT syndrome, 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
(Jun 13, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr11:2604715
GRCh38:
Chr11:2583485
KCNQ1Cardiac arrhythmia, Cardiovascular phenotype, 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
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
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