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Items: 41

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:35821641
GRCh38:
Chr21:34449343
KCNE1Long QT syndrome, Congenital long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Apr 5, 2018)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr3:38655263
GRCh38:
Chr3:38613772
SCN5ACongenital long QT syndromenot providedno assertion provided
3.
GRCh37:
Chr3:38655264
GRCh38:
Chr3:38613773
SCN5ALong QT syndrome 3, Cardiac conduction defect, nonspecific, Brugada syndrome,
not provided, Congenital long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Dec 15, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr3:38593037
GRCh38:
Chr3:38551546
SCN5ACongenital long QT syndromenot providedno assertion provided
5.
GRCh37:
Chr3:38601885
GRCh38:
Chr3:38560394
SCN5ACongenital long QT syndromenot providedno assertion provided
6.
GRCh37:
Chr3:38674773
GRCh38:
Chr3:38633282
SCN5ACongenital long QT syndromenot providedno assertion provided
7.
GRCh37:
Chr3:38640517
GRCh38:
Chr3:38599026
SCN5ACongenital long QT syndromenot providedno assertion provided
8.
GRCh37:
Chr21:35743006
GRCh38:
Chr21:34370707
KCNE2Long QT syndrome, not specified, Congenital long QT syndrome
Uncertain significance
(Sep 6, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr7:150654525
GRCh38:
Chr7:150957437
KCNH2Long QT syndrome, not specified, not provided,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jul 27, 2017)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr7:150656792
GRCh38:
Chr7:150959704
KCNH2Congenital long QT syndromenot providedno assertion provided
11.
GRCh37:
Chr7:150648068
GRCh38:
Chr7:150950980
KCNH2Congenital long QT syndromenot providedno assertion provided
12.
GRCh37:
Chr7:150648643
GRCh38:
Chr7:150951555
KCNH2Long QT syndrome, not provided, Congenital long QT syndrome,
Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Mar 28, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:150648898
GRCh38:
Chr7:150951810
KCNH2Congenital long QT syndromenot providedno assertion provided
14.
GRCh37:
Chr7:150648906
GRCh38:
Chr7:150951818
KCNH2Congenital long QT syndromenot providedno assertion provided
15.
GRCh37:
Chr7:150649790
GRCh38:
Chr7:150952702
KCNH2Congenital long QT syndrome, Cardiovascular phenotypeLikely pathogenic
(Nov 7, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr7:150649791
GRCh38:
Chr7:150952703
KCNH2Congenital long QT syndromenot providedno assertion provided
17.
GRCh37:
Chr11:2591955
GRCh38:
Chr11:2570725
KCNQ1Long QT syndrome, not provided, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Jun 2, 2017)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:2604690
GRCh38:
Chr11:2583460
KCNQ1Congenital long QT syndromenot providedno assertion provided
19.
GRCh37:
Chr11:2593335
GRCh38:
Chr11:2572105
KCNQ1Long QT syndrome, not provided, Congenital long QT syndrome
Pathogenic
(Aug 18, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:2593334
GRCh38:
Chr11:2572104
KCNQ1Long QT syndrome, not provided, Congenital long QT syndrome,
Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Jul 2, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:2593250
GRCh38:
Chr11:2572020
KCNQ1Long QT syndrome 1, not provided, Congenital long QT syndrome
Pathogenic/Likely pathogenic
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:2591942
GRCh38:
Chr11:2570712
KCNQ1Long QT syndrome 1/2, digenicPathogenic
(Sep 1, 2006)
no assertion criteria provided
23.
GRCh37:
Chr11:2869078
GRCh38:
Chr11:2847848
KCNQ1, KCNQ1-AS1not specified, Congenital long QT syndrome, Cardiovascular phenotype
Uncertain significance
(Oct 25, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:2604761-2604763
GRCh38:
Chr11:2583531-2583533
KCNQ1Long QT syndrome, LQT1 subtypenot providedno assertion provided
25.
GRCh37:
Chr11:2604760-2604762
GRCh38:
Chr11:2583530-2583532
KCNQ1Long QT syndrome, not provided, Cardiovascular phenotype
Pathogenic
(Nov 3, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:150671808
GRCh38:
Chr7:150974720
KCNH2Long QT syndrome 2/3, digenic, not provided, Congenital long QT syndrome,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Nov 28, 2017)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr7:150644817
GRCh38:
Chr7:150947729
KCNH2Long QT syndrome 1/2, digenic, Congenital long QT syndromePathogenic
(Sep 1, 2006)
no assertion criteria provided
28.
KCNH2Long QT syndrome 2, Long QT syndrome 1/2, digenicPathogenic
(Sep 1, 2006)
no assertion criteria provided
29.
GRCh37:
Chr7:150671913
GRCh38:
Chr7:150974825
KCNH2Long QT syndrome 2, Congenital long QT syndromePathogenic
(Dec 13, 2002)
no assertion criteria provided
30.
GRCh37:
Chr7:150648599
GRCh38:
Chr7:150951511
KCNH2Long QT syndrome 2, not provided, Congenital long QT syndrome
Pathogenic/Likely pathogenic
(Feb 25, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr7:150648703
GRCh38:
Chr7:150951615
KCNH2Long QT syndrome 2, Congenital long QT syndromePathogenic
(May 15, 1996)
no assertion criteria provided
32.
GRCh37:
Chr21:35821680
GRCh38:
Chr21:34449382
KCNE1Long QT syndrome 5, acquired, susceptibility to, Long QT syndrome 2/5, Long QT syndrome,
Romano-Ward syndrome, not specified, not provided,
Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome
Conflicting interpretations of pathogenicity, other, risk factor
(Jul 25, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr3:38592408
GRCh38:
Chr3:38550917
SCN5ALong QT syndrome 2/3, digenic, Long QT syndrome, Brugada syndrome,
not specified, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Aug 25, 2016)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr3:38620907
GRCh38:
Chr3:38579416
SCN5A, LOC110121269Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Long qt syndrome 3, acquired, susceptibility to,
Long QT syndrome, Romano-Ward syndrome, Brugada syndrome,
not specified, not provided, Sick sinus syndrome,
Progressive familial heart block, Cardiovascular phenotypeParoxysmal familial ventricular fibrillation,
Dilated Cardiomyopathy, Dominant, ...see more
Conflicting interpretations of pathogenicity, risk factor
(Feb 6, 2018)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr3:38592995
GRCh38:
Chr3:38551504
SCN5ALong QT syndrome 3, Long qt syndrome 3/6, digenic, Congenital long QT syndrome
Pathogenic
(Sep 1, 2006)
no assertion criteria provided
36.
GRCh37:
Chr21:35742955
GRCh38:
Chr21:34370656
KCNE2Long qt syndrome 3/6, digenic, Congenital long QT syndromePathogenic
(Sep 1, 2006)
no assertion criteria provided
37.
GRCh37:
Chr21:35742947
GRCh38:
Chr21:34370648
KCNE2Cardiac arrhythmia, Long QT syndrome 6, not specified,
not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Sep 20, 2017)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr11:2593287
GRCh38:
Chr11:2572057
KCNQ1Long QT syndrome 1/2, digenic, Congenital long QT syndromePathogenic
(Sep 1, 2006)
no assertion criteria provided
39.
GRCh37:
Chr11:2604683
GRCh38:
Chr11:2583453
KCNQ1Long QT syndrome 1, not provided, Congenital long QT syndrome
Pathogenic
(Nov 9, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr11:2604765
GRCh38:
Chr11:2583535
KCNQ1Long QT syndrome 1, Long QT syndrome, not provided,
Cardiovascular phenotype
Pathogenic
(Jan 17, 2018)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:2594112
GRCh38:
Chr11:2572882
KCNQ1Long QT syndrome 1, not provided, Congenital long QT syndrome,
Cardiovascular phenotype
Pathogenic
(Oct 13, 2017)
criteria provided, multiple submitters, no conflicts
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