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Items: 37

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:2869172
GRCh38:
Chr11:2847942
KCNQ1, KCNQ1-AS1Long QT syndrome 1GMAF:0.00020(G)Uncertain significance
(Mar 6, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr11:2466692
GRCh38:
Chr11:2445462
KCNQ1Cardiac arrhythmia, Long QT syndrome 1Pathogenic
(Mar 4, 2015)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:47388876
GRCh38:
Chr2:47161737
CALM2Long QT syndrome 1, Long QT syndrome 15Pathogenic/Likely pathogenic
(Aug 1, 2014)
no assertion criteria provided
4.
GRCh37:
Chr2:47388883
GRCh38:
Chr2:47161744
CALM2Long QT syndrome 1, Long QT syndrome 15Pathogenic/Likely pathogenic
(Aug 1, 2014)
no assertion criteria provided
5.
GRCh37:
Chr2:47388887
GRCh38:
Chr2:47161748
CALM2Long QT syndrome 1, Long QT syndrome 15Pathogenic/Likely pathogenic
(Aug 1, 2014)
no assertion criteria provided
6.
GRCh37:
Chr2:47388990
GRCh38:
Chr2:47161851
CALM2Long QT syndrome 1, Long QT syndrome 15Pathogenic/Likely pathogenic
(Aug 1, 2014)
no assertion criteria provided
7.
GRCh37:
Chr2:47388990
GRCh38:
Chr2:47161851
CALM2Long QT syndrome 1, Long QT syndrome 15Pathogenic/Likely pathogenic
(Aug 1, 2014)
no assertion criteria provided
8.
GRCh37:
Chr11:2593251
GRCh38:
Chr11:2572021
KCNQ1Atrial fibrillation, familial, 3, Cardiac arrhythmia, Long QT syndrome 1,
Long QT syndrome, Congenital long QT syndrome
Pathogenic
(May 28, 2015)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:2591913
GRCh38:
Chr11:2570683
KCNQ1Long QT syndrome 1, Long QT syndrome, LQT1 subtypePathogenic
(Sep 10, 2004)
no assertion criteria provided
10.
GRCh37:
Chr11:2869095
GRCh38:
Chr11:2847865
KCNQ1, KCNQ1-AS1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype
Pathogenic
(Jul 7, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr11:2797236
GRCh38:
Chr11:2776006
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(Nov 10, 2014)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:2608860
GRCh38:
Chr11:2587630
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome,
Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
GO-ESP:0.00038(T)
GMAF:0.00020(T)
Conflicting interpretations of pathogenicity, not provided
(Mar 25, 2015)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr11:2592563
GRCh38:
Chr11:2571333
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome,
not provided, Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
Pathogenic
(Jun 1, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr11:2593319
Chr11:2608920
GRCh38:
Chr11:2572089
Chr11:2587690
KCNQ1Long QT syndrome 1Pathogenic
(Mar 1, 2004)
no assertion criteria provided
15.
GRCh37:
Chr11:2594101
GRCh38:
Chr11:2572871
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(Sep 10, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr11:2594100
GRCh38:
Chr11:2572870
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Congenital long QT syndrome
GMAF:0.00020(A)Pathogenic
(Nov 7, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr11:2799220
GRCh38:
Chr11:2777990
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Acquired susceptibility to long QT syndrome 1,
Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
Pathogenic, not provided, risk factor
(Mar 26, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr11:2466678
GRCh38:
Chr11:2445448
KCNQ1Long QT syndrome 1, Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
Pathogenic
(Oct 20, 2001)
no assertion criteria provided
19.
GRCh37:
Chr11:2799239
GRCh38:
Chr11:2778009
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1,
Congenital long QT syndrome
Pathogenic
(Dec 16, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr11:2604775
GRCh38:
Chr11:2583545
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome
Pathogenic
(May 22, 2015)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:2604664
GRCh38:
Chr11:2583434
KCNQ1Long QT syndrome 1, Long QT syndrome, LQT1 subtypePathogenic
(Sep 7, 1999)
no assertion criteria provided
22.
GRCh37:
Chr11:2466539-2466547
GRCh38:
Chr11:2445309-2445317
KCNQ1Long QT syndrome 1Pathogenic
(Oct 7, 1999)
no assertion criteria provided
23.
KCNQ1Long QT syndrome 1Pathogenic
(Aug 1, 1998)
no assertion criteria provided
24.
GRCh37:
Chr11:2594193
GRCh38:
Chr11:2572963
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, not provided
Conflicting interpretations of pathogenicity
(May 31, 2012)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr11:2797262
GRCh38:
Chr11:2776032
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome,
Congenital long QT syndrome
Pathogenic
(Jul 23, 2015)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr11:2604683
GRCh38:
Chr11:2583453
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(Feb 23, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr11:2606443
GRCh38:
Chr11:2585213
KCNQ1Long QT syndrome 1, Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
Pathogenic
(Jan 1, 1996)
no assertion criteria provided
28.
GRCh37:
Chr11:2604765
GRCh38:
Chr11:2583535
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome,
not provided, Long QT syndrome, LQT1 subtype
Conflicting interpretations of pathogenicity, not provided
(Dec 2, 2014)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr11:2604765
GRCh38:
Chr11:2583535
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome 1/2, digenic,
Long QT syndrome, Congenital long QT syndrome
Pathogenic
(Aug 13, 2015)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:2594112
GRCh38:
Chr11:2572882
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(Oct 17, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr11:2593319
GRCh38:
Chr11:2572089
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome,
Congenital long QT syndrome
Pathogenic/Likely pathogenic
(Mar 30, 2015)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:2591949
GRCh38:
Chr11:2570719
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(Jul 3, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr11:2604678
GRCh38:
Chr11:2583448
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(May 10, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr11:2594211
GRCh38:
Chr11:2572981
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, Long QT syndrome, LQT1 subtype,
Congenital long QT syndrome
Pathogenic
(Aug 11, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr11:2591945
GRCh38:
Chr11:2570715
KCNQ1Long QT syndrome 1, Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
Pathogenic
(Jan 1, 1999)
no assertion criteria provided
36.
GRCh37:
Chr11:2591912
GRCh38:
Chr11:2570682
KCNQ1Long QT syndrome 1, Long QT syndrome, LQT1 subtype, Congenital long QT syndrome
Pathogenic
(Jan 1, 1996)
no assertion criteria provided
37.
KCNQ1Long QT syndrome 1Pathogenic
(Jan 1, 1996)
no assertion criteria provided
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