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Links from MedGen

Items: 43

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr21:35884576
GRCh38:
Chr21:34512278
KCNE1Congenital long QT syndrome, Long QT syndrome, Jervell and Lange-Nielsen syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
2.
GRCh37:
Chr21:35884553
GRCh38:
Chr21:34512255
KCNE1Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome, Long QT syndrome
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
3.
GRCh37:
Chr21:35884525
GRCh38:
Chr21:34512227
KCNE1Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome, Long QT syndrome
Benign
(Jun 14, 2016)		criteria provided, single submitter
4.
GRCh37:
Chr21:35884509
GRCh38:
Chr21:34512211
KCNE1Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome, Long QT syndrome
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
5.
GRCh37:
Chr21:35821452
GRCh38:
Chr21:34449154
KCNE1Jervell and Lange-Nielsen syndrome, Long QT syndrome, Congenital long QT syndrome
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
6.
GRCh37:
Chr21:35821086
GRCh38:
Chr21:34448788
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome,
Congenital long QT syndrome, Long QT syndrome		Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr21:35820597
GRCh38:
Chr21:34448299
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
8.
GRCh37:
Chr21:35820314-35820317
GRCh38:
Chr21:34448016-34448019
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome,
not provided		Likely benign
(Oct 26, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr21:35819995-35819996
GRCh38:
Chr21:34447697-34447698
KCNE1Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome, Long QT syndrome,
not provided		Benign
(May 12, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr21:35819960
GRCh38:
Chr21:34447662
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome,
Congenital long QT syndrome, Long QT syndrome		Uncertain significance
(Sep 20, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:2870130
GRCh38:
Chr11:2848900
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome,
Congenital long QT syndrome, Short QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
12.
GRCh37:
Chr11:2870122-2870124
GRCh38:
Chr11:2848892-2848894
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Congenital long QT syndrome, Long QT syndrome,
Jervell and Lange-Nielsen syndrome, Short QT syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr11:2870119-2870121
GRCh38:
Chr11:2848889-2848891
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Congenital long QT syndrome, Long QT syndrome,
Jervell and Lange-Nielsen syndrome, Short QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
14.
GRCh37:
Chr11:2869787
GRCh38:
Chr11:2848557
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Congenital long QT syndrome, Short QT syndrome,
Long QT syndrome, Jervell and Lange-Nielsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
15.
GRCh37:
Chr11:2869631
GRCh38:
Chr11:2848401
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Congenital long QT syndrome, Short QT syndrome,
Long QT syndrome, Jervell and Lange-Nielsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr11:2869606
GRCh38:
Chr11:2848376
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome,
Short QT syndrome, not provided		Benign/Likely benign
(Oct 22, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:2869525
GRCh38:
Chr11:2848295
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Congenital long QT syndrome, Long QT syndrome,
Jervell and Lange-Nielsen syndrome, Short QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
18.
GRCh37:
Chr11:2869474
GRCh38:
Chr11:2848244
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Short QT syndrome, Congenital long QT syndrome,
Long QT syndrome, Jervell and Lange-Nielsen syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
19.
GRCh37:
Chr11:2869393
GRCh38:
Chr11:2848163
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Short QT syndrome, Congenital long QT syndrome,
Long QT syndrome, Jervell and Lange-Nielsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
20.
GRCh37:
Chr11:2869259
GRCh38:
Chr11:2848029
KCNQ1, KCNQ1-AS1Familial atrial fibrillation, Long QT syndrome, Short QT syndrome,
Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
21.
GRCh37:
Chr11:2869181
GRCh38:
Chr11:2847951
KCNQ1-AS1, KCNQ1P533H, P660H, P628H, P164H, P480H, P570HFamilial atrial fibrillation, Short QT syndrome, Congenital long QT syndrome,
Long QT syndrome, Jervell and Lange-Nielsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
22.
GRCh37:
Chr11:2869175
GRCh38:
Chr11:2847945
KCNQ1, KCNQ1-AS1T658N, T531N, T568N, T626N, T478N, T162NFamilial atrial fibrillation, Long QT syndrome, Short QT syndrome,
Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
23.
GRCh37:
Chr11:2688285
GRCh38:
Chr11:2667055
KCNQ1, KCNQ1OT1Congenital long QT syndrome, Short QT syndrome, not provided,
Long QT syndrome, Jervell and Lange-Nielsen syndrome, Familial atrial fibrillation
Benign/Likely benign
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:2683314
GRCh38:
Chr11:2662084
KCNQ1, KCNQ1OT1Jervell and Lange-Nielsen syndrome, Cardiovascular phenotype, Cardiac arrhythmia,
not specified, Familial atrial fibrillation, Short QT syndrome,
Long QT syndrome, Congenital long QT syndrome		Conflicting interpretations of pathogenicity
(Oct 14, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr11:2641445
GRCh38:
Chr11:2620215
KCNQ1, KCNQ1OT1Jervell and Lange-Nielsen syndrome, Familial atrial fibrillation, Short QT syndrome,
Congenital long QT syndrome, Long QT syndrome		Benign
(Jun 14, 2016)		criteria provided, single submitter
26.
GRCh37:
Chr11:2638195
GRCh38:
Chr11:2616965
KCNQ1, KCNQ1OT1Jervell and Lange-Nielsen syndrome, Familial atrial fibrillation, Congenital long QT syndrome,
Short QT syndrome, Long QT syndrome		Benign
(Jun 14, 2016)		criteria provided, single submitter
27.
GRCh37:
Chr11:2632730
GRCh38:
Chr11:2611500
KCNQ1, KCNQ1OT1Jervell and Lange-Nielsen syndrome, Familial atrial fibrillation, Short QT syndrome,
Congenital long QT syndrome, Long QT syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr11:2631622
GRCh38:
Chr11:2610392
KCNQ1, KCNQ1OT1Familial atrial fibrillation, Long QT syndrome, Short QT syndrome,
Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
29.
GRCh37:
Chr11:2631610
GRCh38:
Chr11:2610380
KCNQ1, KCNQ1OT1Familial atrial fibrillation, Long QT syndrome, Short QT syndrome,
Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
30.
GRCh37:
Chr11:2608935
GRCh38:
Chr11:2587705
KCNQ1Jervell and Lange-Nielsen syndrome, Familial atrial fibrillation, not specified,
Long QT syndrome, Short QT syndrome, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr11:2594070
GRCh38:
Chr11:2572840
KCNQ1Familial atrial fibrillation, Short QT syndrome, Congenital long QT syndrome,
Jervell and Lange-Nielsen syndrome, Long QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
32.
GRCh37:
Chr11:2592600
GRCh38:
Chr11:2571370
KCNQ1S217F, S90F, S127FFamilial atrial fibrillation, Short QT syndrome, Congenital long QT syndrome,
Jervell and Lange-Nielsen syndrome, Long QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
33.
GRCh37:
Chr11:2466394
GRCh38:
Chr11:2445164
KCNQ1Familial atrial fibrillation, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome,
Short QT syndrome, Long QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr11:2466357
GRCh38:
Chr11:2445127
KCNQ1A10DFamilial atrial fibrillation, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome,
Short QT syndrome, Long QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
35.
GRCh37:
Chr11:2549173
GRCh38:
Chr11:2527943
KCNQ1V135fs, V8fsJervell and Lange-Nielsen syndrome, Congenital long QT syndrome, not provided
Likely pathogenic
(Nov 13, 2018)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:2594121
GRCh38:
Chr11:2572891
KCNQ1S149fs, S276fsJervell and Lange-Nielsen syndrome, Congenital long QT syndromeLikely pathogenic
(Dec 9, 2013)		criteria provided, single submitter
37.
GRCh37:
Chr11:2799222
GRCh38:
Chr11:2777992
KCNQ1Jervell and Lange-Nielsen syndrome, Cardiac arrhythmia, Cardiovascular phenotype,
Congenital long QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome,
Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1,
Short QT syndrome, not specifiedLong QT syndrome,
Familial atrial fibrillation, ...see more		Benign/Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr11:2610046
GRCh38:
Chr11:2588816
KCNQ1R452Q, R325Q, R272Q, R362Q, R420QCardiovascular phenotype, Cardiac arrhythmia, Jervell and Lange-Nielsen syndrome,
Familial atrial fibrillation, Congenital long QT syndrome, not specified,
Short QT syndrome, Atrial fibrillation, familial, 3, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndromeShort QT syndrome type 2,
not provided, Long QT syndrome, ...see more		Conflicting interpretations of pathogenicity
(Mar 13, 2023)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr11:2591950-2591954
GRCh38:
Chr11:2570720-2570724
KCNQ1R192fs, R65fsLong QT syndrome, Long QT syndrome 1, not provided,
Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Congenital long QT syndrome,
Jervell and Lange-Nielsen syndrome, Cardiovascular phenotype		Pathogenic
(Jan 17, 2023)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:2591868
GRCh38:
Chr11:2570638
KCNQ1L36fsLong QT syndrome, Long QT syndrome 1, Rare genetic deafness,
Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Cardiovascular phenotype,
not provided		Pathogenic/Likely pathogenic
(Feb 8, 2023)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:2608860
GRCh38:
Chr11:2587630
KCNQ1R397W, R270W, R307W, R365W, R217WFamilial atrial fibrillation, Jervell and Lange-Nielsen syndrome, not provided,
Long QT syndrome 1, Cardiovascular phenotype, Congenital long QT syndrome,
Cardiac arrhythmia, Atrial fibrillation, familial, 3, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2Short QT syndrome,
not specified, Long QT syndrome, ...see more		Conflicting interpretations of pathogenicity
(Mar 2, 2023)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr11:2591850
GRCh38:
Chr11:2570620
KCNQ1Congenital long QT syndrome, Cardiac arrhythmia, Jervell and Lange-Nielsen syndrome,
Short QT syndrome, not specified, Long QT syndrome,
Familial atrial fibrillation		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr21:35821707
GRCh38:
Chr21:34449409
KCNE1D76NSudden unexplained death, Brugada syndrome, Arrhythmogenic right ventricular cardiomyopathy,
Cardiovascular phenotype, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome,
not provided, Long QT syndrome, Long QT syndrome 5
Conflicting interpretations of pathogenicity
(Oct 11, 2022)		criteria provided, conflicting interpretations
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