S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 235

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:38591829
GRCh38:
Chr3:38550338
SCN5Anot provided, Congenital long QT syndromeGO-ESP:0.00002(A)Pathogenic
(Jun 1, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr3:38591902
GRCh38:
Chr3:38550411
SCN5AAtrial fibrillation, Atrial fibrillation, familial, 10, not specified,
Atrial fibrillation
GO-ESP:0.00008(T)
GO-ESP:0.00001(T)
Conflicting interpretations of pathogenicity, not provided
(Jun 1, 2014)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr3:38591928
GRCh38:
Chr3:38550437
SCN5Anot providedLikely pathogenic
(May 16, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr3:38591991
GRCh38:
Chr3:38550500
SCN5Anot providedGO-ESP:0.00007(A)Likely pathogenic
(May 18, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:38592012
GRCh38:
Chr3:38550521
SCN5ALong QT syndrome 2, not provided, Atrial fibrillation,
Cardiovascular phenotype
GMAF:0.00840(A)Conflicting interpretations of pathogenicity, not provided
(Nov 19, 2015)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr3:38592033
GRCh38:
Chr3:38550542
SCN5Anot provided, SCN5A-Related DisordersConflicting interpretations of pathogenicity
(Jun 24, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr3:38592093
GRCh38:
Chr3:38550602
SCN5ABrugada syndrome 1, Brugada syndromeGO-ESP:0.00008(T)
GO-ESP:0.00004(T)
Pathogenic
(Dec 1, 1999)
no assertion criteria provided
8.
GRCh37:
Chr3:38592123
GRCh38:
Chr3:38550632
SCN5Anot providedGO-ESP:0.00001(C)Likely pathogenic
(Oct 28, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr3:38592137
GRCh38:
Chr3:38550646
SCN5Anot provided, Congenital long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity, not provided
(Nov 9, 2015)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr3:38592152
GRCh38:
Chr3:38550661
SCN5ALong QT syndrome, not specified, not provided,
Death in infancy
GO-ESP:0.00079(A)
GMAF:0.00060(A)
GO-ESP:0.00019(A)
Conflicting interpretations of pathogenicity, not provided
(Mar 24, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr3:38592170
GRCh38:
Chr3:38550679
SCN5ALong QT syndrome 3, not specified, Cardiovascular phenotype
GO-ESP:0.00007(T)Conflicting interpretations of pathogenicity
(Oct 21, 2015)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr3:38592237
GRCh38:
Chr3:38550746
SCN5Anot providedLikely pathogenic
(Dec 6, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr3:38592239
GRCh38:
Chr3:38550748
SCN5Anot provided, Atrial fibrillationLikely pathogenic
(Jun 27, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr3:38592317
GRCh38:
Chr3:38550826
SCN5ABrugada syndrome, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jan 19, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr3:38592356
GRCh38:
Chr3:38550865
SCN5APrimary dilated cardiomyopathy, Dilated cardiomyopathy 1E, not specified,
not provided
GO-ESP:0.00086(G)
GMAF:0.00160(G)
GO-ESP:0.00023(G)
Conflicting interpretations of pathogenicity, not provided
(Oct 20, 2014)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr3:38592386
GRCh38:
Chr3:38550895
SCN5ALong QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, not specified,
not provided, Congenital long QT syndrome
GO-ESP:0.00016(T)
GO-ESP:0.00003(T)
Conflicting interpretations of pathogenicity, not provided
(Apr 21, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr3:38592387
GRCh38:
Chr3:38550896
SCN5Anot provided, Atrial fibrillationGO-ESP:0.00008(A)
GO-ESP:0.00003(A)
Likely pathogenic
(Jun 11, 2012)
criteria provided, single submitter
18.
GRCh37:
Chr3:38592396-38592399
GRCh38:
Chr3:38550905-38550908
SCN5Anot provided, Cardiovascular phenotypeLikely pathogenic
(Jan 5, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:38592408
GRCh38:
Chr3:38550917
SCN5ALong QT syndrome 2/3, digenic, Long QT syndrome, Brugada syndrome,
not specified, Congenital long QT syndrome
GO-ESP:0.00031(T)Conflicting interpretations of pathogenicity, not provided
(May 11, 2016)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr3:38592458
GRCh38:
Chr3:38550967
SCN5Anot provided, Congenital long QT syndromeLikely pathogenic
(Feb 3, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr3:38592476-38592478
GRCh38:
Chr3:38550985-38550987
SCN5ABrugada syndrome 1, Long QT syndrome 3Pathogenic
(Mar 12, 2002)
no assertion criteria provided
22.
GRCh37:
Chr3:38592479
GRCh38:
Chr3:38550988
SCN5ALong QT syndrome 3, Congenital long QT syndromePathogenic
(Aug 17, 2001)
no assertion criteria provided
23.
GRCh37:
Chr3:38592480
GRCh38:
Chr3:38550989
SCN5ABrugada syndrome 1, Brugada syndromePathogenic
(Aug 17, 2001)
no assertion criteria provided
24.
GRCh37:
Chr3:38592485
GRCh38:
Chr3:38550994
SCN5Anot specified, not providedConflicting interpretations of pathogenicity
(Apr 4, 2013)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr3:38592506-38592507
GRCh38:
Chr3:38551015-38551016
SCN5ABrugada syndrome 1Likely pathogenic
(Jan 1, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr3:38592513
GRCh38:
Chr3:38551022
SCN5ABrugada syndrome 1, Long QT syndrome 3, Sinus node disease,
Brugada syndrome, not provided, Congenital long QT syndrome,
Cardiovascular phenotype
Pathogenic
(May 31, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:38592527
GRCh38:
Chr3:38551036
SCN5ALong QT syndrome, not provided, Congenital long QT syndrome
GO-ESP:0.00008(A)
GO-ESP:0.00003(A)
Conflicting interpretations of pathogenicity, not provided
(Mar 25, 2015)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr3:38592534
GRCh38:
Chr3:38551043
SCN5Anot provided, Congenital long QT syndromeGO-ESP:0.00003(T)Likely pathogenic
(Jan 15, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr3:38592561
GRCh38:
Chr3:38551070
SCN5Anot provided, Congenital long QT syndromePathogenic
(Jul 12, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr3:38592566
GRCh38:
Chr3:38551075
SCN5Anot providedPathogenic
(Aug 22, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr3:38592576
GRCh38:
Chr3:38551085
SCN5Anot provided, Congenital long QT syndromePathogenic
(Aug 1, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr3:38592578
GRCh38:
Chr3:38551087
SCN5Anot providedLikely pathogenic
(Aug 30, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr3:38592632
GRCh38:
Chr3:38551141
SCN5Anot providedLikely pathogenic
(Jun 3, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr3:38592636
GRCh38:
Chr3:38551145
SCN5ABrugada syndrome, not providedPathogenic
(May 12, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr3:38592678
GRCh38:
Chr3:38551187
SCN5Anot providedGO-ESP:0.00001(T)Likely pathogenic
(May 17, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr3:38592695
GRCh38:
Chr3:38551204
SCN5Anot provided, Congenital long QT syndromePathogenic
(Dec 12, 2012)
criteria provided, single submitter
37.
GRCh37:
Chr3:38592723
GRCh38:
Chr3:38551232
SCN5Anot providedLikely pathogenic
(Oct 10, 2013)
criteria provided, single submitter
38.
GRCh37:
Chr3:38592732
GRCh38:
Chr3:38551241
SCN5AHeart block, nonprogressivePathogenic
(Sep 1, 1999)
no assertion criteria provided
39.
GRCh37:
Chr3:38592734
GRCh38:
Chr3:38551243
SCN5ABrugada syndrome 1, Paroxysmal familial ventricular fibrillation 1, not provided,
Ventricular fibrillation, Cardiovascular phenotype
GO-ESP:0.00001(A)Pathogenic/Likely pathogenic, not provided
(Oct 11, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:38592755
GRCh38:
Chr3:38551264
SCN5Anot providedLikely pathogenic
(Dec 3, 2012)
criteria provided, single submitter
41.
GRCh37:
Chr3:38592791
GRCh38:
Chr3:38551300
SCN5Anot providedLikely pathogenic
(Aug 29, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr3:38592836
GRCh38:
Chr3:38551345
SCN5Anot providedGO-ESP:0.00001(G)Likely pathogenic
(Jun 27, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr3:38592837
GRCh38:
Chr3:38551346
SCN5Anot providedLikely pathogenic
(May 10, 2013)
criteria provided, single submitter
44.
GRCh37:
Chr3:38592864
GRCh38:
Chr3:38551373
SCN5Anot providedPathogenic
(Nov 25, 2013)
criteria provided, single submitter
45.
GRCh37:
Chr3:38592864
GRCh38:
Chr3:38551373
SCN5ALong QT syndrome, Congenital long QT syndromeLikely pathogenicno assertion criteria provided
46.
GRCh37:
Chr3:38592885
GRCh38:
Chr3:38551394
SCN5Anot provided, Congenital long QT syndromeGO-ESP:0.00003(C)Likely pathogenic
(May 6, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr3:38592912
GRCh38:
Chr3:38551421
SCN5Anot providedLikely pathogenic
(May 13, 2013)
criteria provided, single submitter
48.
GRCh37:
Chr3:38592929
GRCh38:
Chr3:38551438
SCN5Anot provided, Congenital long QT syndromeGO-ESP:0.00003(A)Pathogenic
(Mar 14, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr3:38592932
GRCh38:
Chr3:38551441
SCN5ALong QT syndrome 3, not provided, Congenital long QT syndrome,
Cardiovascular phenotype
Pathogenic
(Jun 9, 2016)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:38592978
GRCh38:
Chr3:38551487
SCN5ACardiovascular phenotypeGMAF:0.00020(A)
GO-ESP:0.00001(A)
Pathogenic
(Sep 4, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr3:38592986
GRCh38:
Chr3:38551495
SCN5Anot provided, Congenital long QT syndrome, Cardiovascular phenotype
GO-ESP:0.00007(T)Likely pathogenic
(Jun 21, 2016)
criteria provided, multiple submitters, no conflicts
52.
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
53.
GRCh37:
Chr3:38592996
GRCh38:
Chr3:38551505
SCN5ASick sinus syndrome 1, autosomal recessive, not providedPathogenic
(Jul 31, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr3:38593004
GRCh38:
Chr3:38551513
SCN5ABrugada syndrome 1, Brugada syndromeGO-ESP:0.00001(A)Pathogenic
(Apr 10, 2014)
no assertion criteria provided
55.
GRCh37:
Chr3:38593011-38593013
GRCh38:
Chr3:38551520-38551522
SCN5ALong QT syndrome 3, Long QT syndrome, not provided
GO-ESP:0.00001(-)Pathogenic/Likely pathogenic
(Jun 29, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:38593016-38593018
GRCh38:
Chr3:38551525-38551527
SCN5ABrugada syndromePathogenic
(Jan 20, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr3:38595764-38595767
GRCh38:
Chr3:38554273-38554276
SCN5ABrugada syndrome 1Likely pathogenic
(Feb 18, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr3:38595770
GRCh38:
Chr3:38554279
SCN5Anot providedPathogenic
(Sep 2, 2011)
criteria provided, single submitter
59.
GRCh37:
Chr3:38595800
GRCh38:
Chr3:38554309
SCN5ADilated cardiomyopathy 1E, Dilated cardiomyopathyPathogenic
(Jan 26, 2005)
no assertion criteria provided
60.
GRCh37:
Chr3:38595800
GRCh38:
Chr3:38554309
SCN5AProgressive familial heart block type 1A, not provided, Atrioventricular block
Pathogenic
(Jun 29, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr3:38595811
GRCh38:
Chr3:38554320
SCN5ABrugada syndromePathogenic
(Jul 1, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr3:38595864
GRCh38:
Chr3:38554373
SCN5ACardiovascular phenotypeGO-ESP:0.00001(A)Likely pathogenic
(Nov 2, 2012)
criteria provided, single submitter
63.
GRCh37:
Chr3:38595967-38595971
GRCh38:
Chr3:38554476-38554480
SCN5Anot providedPathogenic
(Sep 4, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr3:38597155
GRCh38:
Chr3:38555664
SCN5ABrugada syndrome 1, Primary familial hypertrophic cardiomyopathy, not specified,
not provided
GO-ESP:0.00007(A)Conflicting interpretations of pathogenicity, not provided
(Jan 1, 2016)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr3:38597162-38597170
GRCh38:
Chr3:38555671-38555679
SCN5ALong QT syndrome 3, not providedPathogenic
(Jan 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr3:38597196
GRCh38:
Chr3:38555705
SCN5Anot provided, Congenital long QT syndromeLikely pathogenic
(Mar 1, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr3:38597205
GRCh38:
Chr3:38555714
SCN5Anot provided, Congenital long QT syndromeLikely pathogenic
(Feb 4, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr3:38597210-38597212
GRCh38:
Chr3:38555719-38555721
SCN5ABrugada syndromeLikely pathogenic
(Nov 19, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr3:38597211
GRCh38:
Chr3:38555720
SCN5AAtrial fibrillation, Congenital long QT syndromeGO-ESP:0.00003(C)Likely pathogenic
(Jun 24, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr3:38597217
GRCh38:
Chr3:38555726
SCN5Anot providedPathogenic
(Oct 20, 2011)
criteria provided, single submitter
71.
GRCh37:
Chr3:38597236
GRCh38:
Chr3:38555745
SCN5Anot providedPathogenic
(Jul 16, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr3:38597945
GRCh38:
Chr3:38556454
SCN5Anot providedLikely pathogenic
(Apr 24, 2014)
criteria provided, single submitter
73.
GRCh37:
Chr3:38597946
GRCh38:
Chr3:38556455
SCN5ACardiovascular phenotypePathogenic
(May 15, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr3:38597966
GRCh38:
Chr3:38556475
SCN5Anot providedLikely pathogenic
(Jan 14, 2013)
criteria provided, single submitter
75.
GRCh37:
Chr3:38597996
GRCh38:
Chr3:38556505
SCN5Anot provided, Congenital long QT syndromePathogenic
(Oct 19, 2012)
criteria provided, single submitter
76.
GRCh37:
Chr3:38598023
GRCh38:
Chr3:38556532
SCN5ABrugada syndrome, not providedLikely pathogenic
(Apr 5, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr3:38598031
GRCh38:
Chr3:38556540
SCN5Anot providedLikely pathogenic
(Feb 20, 2012)
criteria provided, single submitter
78.
GRCh37:
Chr3:38598048
GRCh38:
Chr3:38556557
SCN5ABrugada syndrome, Cardiovascular phenotypeLikely pathogenic
(Nov 18, 2015)
criteria provided, single submitter
79.
GRCh37:
Chr3:38598716
GRCh38:
Chr3:38557225
SCN5Anot providedPathogenic
(Sep 11, 2012)
criteria provided, single submitter
80.
GRCh37:
Chr3:38598722
GRCh38:
Chr3:38557231
SCN5Anot providedPathogenic
(Feb 23, 2012)
criteria provided, single submitter
81.
GRCh37:
Chr3:38598739
GRCh38:
Chr3:38557248
SCN5ABrugada syndrome, not specified, not provided
GMAF:0.00020(A)
GO-ESP:0.00003(A)
Conflicting interpretations of pathogenicity
(Apr 13, 2015)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr3:38598751
GRCh38:
Chr3:38557260
SCN5Anot providedLikely pathogenic
(Feb 10, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr3:38598759
GRCh38:
Chr3:38557268
SCN5ABrugada syndrome 1Pathogenic
(Oct 1, 2006)
no assertion criteria provided
84.
GRCh37:
Chr3:38598777
GRCh38:
Chr3:38557286
SCN5Anot providedPathogenic
(Sep 26, 2011)
criteria provided, single submitter
85.
GRCh37:
Chr3:38601636
GRCh38:
Chr3:38560145
SCN5Anot providedPathogenic
(May 8, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr3:38601637
GRCh38:
Chr3:38560146
SCN5Anot providedLikely pathogenic
(Aug 17, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr3:38601661
GRCh38:
Chr3:38560170
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, autosomal recessive, Cardiac conduction defect, nonspecific,
Brugada syndrome, not provided
Pathogenic
(May 23, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr3:38601666
GRCh38:
Chr3:38560175
SCN5ABrugada syndrome, not providedPathogenic
(May 11, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr3:38601693
GRCh38:
Chr3:38560202
SCN5ABrugada syndrome 1Pathogenic
(Dec 1, 2010)
no assertion criteria provided
90.
GRCh37:
Chr3:38601701
GRCh38:
Chr3:38560210
SCN5ABrugada syndromePathogenic
(Jun 13, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr3:38601751
GRCh38:
Chr3:38560260
SCN5ABrugada syndromeGO-ESP:0.00001(T)Likely pathogenic
(May 13, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr3:38601813
GRCh38:
Chr3:38560322
SCN5Anot providedGO-ESP:0.00008(A)Likely pathogenic
(May 5, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr3:38601826
GRCh38:
Chr3:38560335
SCN5ABrugada syndrome, not providedGO-ESP:0.00005(T)Pathogenic
(Jun 18, 2012)
criteria provided, single submitter
94.
GRCh37:
Chr3:38601848
GRCh38:
Chr3:38560357
SCN5Anot providedPathogenic
(Oct 15, 2012)
criteria provided, single submitter
95.
GRCh37:
Chr3:38601865
GRCh38:
Chr3:38560374
SCN5ABrugada syndrome, not providedGO-ESP:0.00005(T)Conflicting interpretations of pathogenicity, not provided
(Jul 16, 2015)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr3:38601883
GRCh38:
Chr3:38560392
SCN5Anot provided, Congenital long QT syndromeGO-ESP:0.00001(C)Pathogenic
(May 30, 2013)
criteria provided, single submitter
97.
GRCh37:
Chr3:38601888
GRCh38:
Chr3:38560397
SCN5Anot providedLikely pathogenic
(Oct 8, 2015)
criteria provided, single submitter
98.
GRCh37:
Chr3:38601888
GRCh38:
Chr3:38560397
SCN5ABrugada syndromePathogenic
(Oct 21, 2013)
criteria provided, single submitter
99.
GRCh37:
Chr3:38601888
GRCh38:
Chr3:38560397
SCN5ABrugada syndrome, not providedPathogenic
(Jul 14, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr3:38601889
GRCh38:
Chr3:38560398
SCN5Anot providedPathogenic
(Oct 17, 2012)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center