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Items: 1 to 100 of 1517

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr7:150648662
GRCh38:
Chr7:150951574
KCNH2I267fs, I607fsCongenital long QT syndromePathogenic
(Oct 19, 2020)		criteria provided, single submitter
2.
GRCh37:
Chr3:38655522
GRCh38:
Chr3:38614031
SCN5AS216LCardiac arrhythmia, Congenital long QT syndromeBenign/Likely benign
(Mar 3, 2021)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:150648171
GRCh38:
Chr7:150951083
KCNH2I322fs, I662fsCongenital long QT syndrome, Long QT syndromePathogenic/Likely pathogenic
(Apr 4, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:2797286
GRCh38:
Chr11:2776056
KCNQ1Congenital long QT syndromeLikely pathogenic
(Oct 21, 2018)		criteria provided, single submitter
5.
GRCh37:
Chr11:2797189
GRCh38:
Chr11:2775959
KCNQ1Long QT syndrome, Congenital long QT syndromePathogenic/Likely pathogenic
(Aug 1, 2020)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:2592634
GRCh38:
Chr11:2571404
KCNQ1Congenital long QT syndrome, Long QT syndrome, not provided
Pathogenic/Likely pathogenic
(Apr 25, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:2690777
GRCh38:
Chr12:2581611
CACNA1CN639K, N636KCongenital long QT syndrome, Timothy syndrome, Long QT syndrome
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:2593319
Chr11:2608920
GRCh38:
Chr11:2572089
Chr11:2587690
KCNQ1, KCNQ1V254M, V127M, V164M, V417M, V290M, V237M, V385M, V327MLong QT syndrome 1Pathogenic
(Mar 1, 2004)		no assertion criteria provided
9.
GRCh37:
Chr3:38645420
Chr3:38645558
GRCh38:
Chr3:38603929
Chr3:38604067
SCN5A, SCN5AH558R, T512IProgressive familial heart block, type 1APathogenic
(Apr 15, 2008)		no assertion criteria provided
10.
GRCh37:
Chr21:35884576
GRCh38:
Chr21:34512278
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Long QT syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
11.
GRCh37:
Chr7:91739967
GRCh38:
Chr7:92110653
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
12.
GRCh37:
Chr7:91739935
GRCh38:
Chr7:92110621
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr7:91739589
GRCh38:
Chr7:92110275
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
14.
GRCh37:
Chr7:91739552
GRCh38:
Chr7:92110238
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
15.
GRCh37:
Chr7:91737810
GRCh38:
Chr7:92108496
AKAP9Y3850C, Y3842C, Y2065CCongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr7:91734996
GRCh38:
Chr7:92105682
AKAP9K3779Q, K3771Q, K1994QCongenital long QT syndrome, Long QT syndromeUncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:91734981
GRCh38:
Chr7:92105667
AKAP9not provided, Congenital long QT syndrome, Long QT syndrome,
Long QT syndrome 11		Benign/Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:91732039
GRCh38:
Chr7:92102725
AKAP9M3743I, M3735I, M1958ICongenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr7:91730197
GRCh38:
Chr7:92100883
AKAP9A3642S, A3634S, A1857SCongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
20.
GRCh37:
Chr7:91730174
GRCh38:
Chr7:92100860
AKAP9S3634C, S3626C, S1849CCongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
21.
GRCh37:
Chr7:91729132
GRCh38:
Chr7:92099818
AKAP9not provided, Cardiovascular phenotype, Congenital long QT syndrome,
Long QT syndrome, Long QT syndrome 11		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:91727525
GRCh38:
Chr7:92098211
AKAP9Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Conflicting interpretations of pathogenicity
(Nov 22, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr7:91727408
GRCh38:
Chr7:92098094
AKAP9Congenital long QT syndrome, Long QT syndrome 11, not provided,
not specified, Long QT syndrome		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:91726494
GRCh38:
Chr7:92097180
AKAP9Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jul 15, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr7:91726380
GRCh38:
Chr7:92097066
AKAP9Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Aug 28, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr7:91718853
GRCh38:
Chr7:92089539
AKAP9Congenital long QT syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Sep 29, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr7:91718714
GRCh38:
Chr7:92089400
AKAP9A3077T, A3069T, A1292TCongenital long QT syndrome, Long QT syndromeUncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:91718693
GRCh38:
Chr7:92089379
AKAP9Congenital long QT syndrome, Long QT syndrome, not specified
Conflicting interpretations of pathogenicity
(Sep 28, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr7:91715687
GRCh38:
Chr7:92086373
AKAP9A3057E, A3049E, A1272ECongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
30.
GRCh37:
Chr7:91714971
GRCh38:
Chr7:92085657
AKAP9T2999A, T2991A, T1214ACongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
31.
GRCh37:
Chr7:91712847
GRCh38:
Chr7:92083533
AKAP9M2842V, M2834V, M1057VCongenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Uncertain significance
(Apr 16, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:91712478
GRCh38:
Chr7:92083164
AKAP9Congenital long QT syndrome, Long QT syndromeConflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr7:91709003
GRCh38:
Chr7:92079689
AKAP9Y2519C, Y2511C, Y734CCongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr7:91708381
GRCh38:
Chr7:92079067
AKAP9Long QT syndrome, Congenital long QT syndromeConflicting interpretations of pathogenicity
(Aug 3, 2021)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr7:91707140
GRCh38:
Chr7:92077826
AKAP9E2299G, E2291G, E514GLong QT syndrome 11, Long QT syndrome, Cardiovascular phenotype,
Congenital long QT syndrome		Uncertain significance
(Mar 13, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:91707132
GRCh38:
Chr7:92077818
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
37.
GRCh37:
Chr7:91699389
GRCh38:
Chr7:92070075
AKAP9S2126R, S341RCardiovascular phenotype, Congenital long QT syndromeUncertain significance
(Aug 17, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr7:91691718
GRCh38:
Chr7:92062404
AKAP9Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr7:91690697
GRCh38:
Chr7:92061383
AKAP9A1909T, A124TCongenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Conflicting interpretations of pathogenicity
(Feb 13, 2023)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr7:91690694
GRCh38:
Chr7:92061380
AKAP9R1908G, R123GCongenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Conflicting interpretations of pathogenicity
(Feb 25, 2023)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr7:91682167
GRCh38:
Chr7:92052853
AKAP9Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype,
Congenital long QT syndrome		Conflicting interpretations of pathogenicity
(Apr 21, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr7:91674386
GRCh38:
Chr7:92045072
AKAP9A1743TLong QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
Uncertain significance
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr7:91667926-91667928
GRCh38:
Chr7:92038612-92038614
AKAP9E1513delLong QT syndrome 11, Long QT syndrome, Cardiovascular phenotype,
Congenital long QT syndrome		Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr7:91660873
GRCh38:
Chr7:92031559
AKAP9Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 12, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr7:91660833
GRCh38:
Chr7:92031519
AKAP9G1418DLong QT syndrome 11, Long QT syndrome, Cardiovascular phenotype,
Congenital long QT syndrome		Conflicting interpretations of pathogenicity
(Jan 19, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr7:91659224
GRCh38:
Chr7:92029910
AKAP9Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr7:91651646
GRCh38:
Chr7:92022332
AKAP9M1311KCongenital long QT syndrome, Cardiovascular phenotypeUncertain significance
(Dec 8, 2020)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr7:91651588
GRCh38:
Chr7:92022274
AKAP9F1292LCongenital long QT syndrome, Long QT syndromeUncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:91645538
GRCh38:
Chr7:92016224
AKAP9E1236DCongenital long QT syndrome, Long QT syndromeUncertain significance
(Oct 27, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr7:91632562
GRCh38:
Chr7:92003248
AKAP9Congenital long QT syndrome, Long QT syndrome 11, not provided,
not specified, Long QT syndrome		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:91632509
GRCh38:
Chr7:92003195
AKAP9D1093GCongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
52.
GRCh37:
Chr7:91632195
GRCh38:
Chr7:92002881
AKAP9E988DCongenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
53.
GRCh37:
Chr7:91631559
GRCh38:
Chr7:92002245
AKAP9Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jun 18, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr7:91630902
GRCh38:
Chr7:92001588
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
55.
GRCh37:
Chr7:91630875
GRCh38:
Chr7:92001561
AKAP9Congenital long QT syndrome, Long QT syndromeConflicting interpretations of pathogenicity
(Feb 14, 2021)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr7:91630414
GRCh38:
Chr7:92001100
AKAP9K395ECongenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Uncertain significance
(Dec 16, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr7:91630147
GRCh38:
Chr7:92000833
AKAP9Congenital long QT syndrome, Long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
58.
GRCh37:
Chr7:91603134
GRCh38:
Chr7:91973820
AKAP9H53RCongenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype,
not specified		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr7:91570309
GRCh38:
Chr7:91940995
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
60.
GRCh37:
Chr7:91570307
GRCh38:
Chr7:91940993
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
61.
GRCh37:
Chr7:91570294
GRCh38:
Chr7:91940980
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
62.
GRCh37:
Chr7:91570290
GRCh38:
Chr7:91940976
AKAP9Congenital long QT syndrome, Long QT syndrome 11, not provided
Benign/Likely benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr7:91570254
GRCh38:
Chr7:91940940
AKAP9Congenital long QT syndrome, Long QT syndrome 11Uncertain significance
(Sep 20, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:91570203
GRCh38:
Chr7:91940889
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
65.
GRCh37:
Chr7:91570197-91570198
GRCh38:
Chr7:91940883-91940884
AKAP9Long QT syndrome, Congenital long QT syndrome, not provided
Conflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr3:8788406
GRCh38:
Chr3:8746720
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr3:8788405
GRCh38:
Chr3:8746719
CAV3, OXTRRippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome		Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:8788387
GRCh38:
Chr3:8746701
CAV3, OXTRRippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome		Uncertain significance
(Sep 21, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr3:8788364
GRCh38:
Chr3:8746678
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided,
Caveolinopathy		Benign/Likely benign
(Sep 10, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr3:8788358
GRCh38:
Chr3:8746672
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided,
Caveolinopathy		Conflicting interpretations of pathogenicity
(Oct 14, 2021)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr3:8788341
GRCh38:
Chr3:8746655
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr3:8788316
GRCh38:
Chr3:8746630
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr3:8788294
GRCh38:
Chr3:8746608
CAV3, OXTRRippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome		Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:8788278
GRCh38:
Chr3:8746592
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Long QT syndrome,
Caveolinopathy, Hypertrophic cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
75.
GRCh37:
Chr3:8788275
GRCh38:
Chr3:8746589
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr3:8788145
GRCh38:
Chr3:8746459
CAV3, OXTRRippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:8788020
GRCh38:
Chr3:8746334
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr3:8787986
GRCh38:
Chr3:8746300
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr3:8787830
GRCh38:
Chr3:8746144
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr3:8787829
GRCh38:
Chr3:8746143
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided,
Caveolinopathy		Benign/Likely benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:8787356
GRCh38:
Chr3:8745670
CAV3, OXTRL87FLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr3:38691076
GRCh38:
Chr3:38649585
SCN5ACongenital long QT syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Long QT syndrome 3		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr3:38691039
GRCh38:
Chr3:38649548
SCN5ACongenital long QT syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Long QT syndrome 3		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr3:38691010
GRCh38:
Chr3:38649519
SCN5ACongenital long QT syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Long QT syndrome 3		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr3:38655250
GRCh38:
Chr3:38613759
SCN5ADilated Cardiomyopathy, Dominant, Sick sinus syndrome, Long QT syndrome,
Paroxysmal familial ventricular fibrillation, Cardiovascular phenotype, Cardiac arrhythmia,
Congenital long QT syndrome, Brugada syndrome, Progressive familial heart block
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr3:38646247
GRCh38:
Chr3:38604756
SCN5ASick sinus syndrome 1, Congenital long QT syndrome, Brugada syndrome 1,
Long QT syndrome 3, Cardiac arrhythmia, Brugada syndrome,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr3:38645293
GRCh38:
Chr3:38603802
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Cardiovascular phenotype, Cardiac arrhythmia, Congenital long QT syndrome,
Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Dilated cardiomyopathy 1E		Conflicting interpretations of pathogenicity
(Jun 30, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr3:38645223
GRCh38:
Chr3:38603732
SCN5AL624IParoxysmal familial ventricular fibrillation, Progressive familial heart block, Dilated Cardiomyopathy, Dominant,
Sick sinus syndrome, Congenital long QT syndrome, Brugada syndrome,
Long QT syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
89.
GRCh37:
Chr3:38639331
GRCh38:
Chr3:38597840
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Congenital long QT syndrome, not specified, Cardiovascular phenotype,
Cardiac arrhythmia, not provided, Brugada syndrome,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1EProgressive familial heart block, type 1A,
...see more		Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr3:38639301
GRCh38:
Chr3:38597810
SCN5ABrugada syndrome 1, Congenital long QT syndrome, Long QT syndrome 3,
Cardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A,
Sick sinus syndrome 1		Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr3:38639223
GRCh38:
Chr3:38597732
SCN5ADilated Cardiomyopathy, Dominant, Cardiovascular phenotype, Sick sinus syndrome,
Congenital long QT syndrome, Long QT syndrome, Paroxysmal familial ventricular fibrillation,
Cardiac arrhythmia, Brugada syndrome, Progressive familial heart block,
not provided		Conflicting interpretations of pathogenicity
(Aug 15, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr3:38622835
GRCh38:
Chr3:38581344
LOC110121269, SCN5AL939FProgressive familial heart block, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Dilated Cardiomyopathy, Dominant, Sick sinus syndromeParoxysmal familial ventricular fibrillation,
Congenital long QT syndrome, Brugada syndrome, Long QT syndrome,
...see more		Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:38622662
GRCh38:
Chr3:38581171
LOC110121269, SCN5ADilated Cardiomyopathy, Dominant, Sick sinus syndrome, Congenital long QT syndrome,
Paroxysmal familial ventricular fibrillation, Cardiac arrhythmia, Brugada syndrome,
Long QT syndrome, Progressive familial heart block		Conflicting interpretations of pathogenicity
(Jul 13, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr3:38622416
GRCh38:
Chr3:38580925
LOC110121269, SCN5ADilated Cardiomyopathy, Dominant, Sick sinus syndrome, Congenital long QT syndrome,
Long QT syndrome, Paroxysmal familial ventricular fibrillation, Cardiac arrhythmia,
Progressive familial heart block, not provided, Brugada syndrome
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr3:38620831
GRCh38:
Chr3:38579340
LOC110121269, SCN5ADilated Cardiomyopathy, Dominant, Congenital long QT syndrome, Sick sinus syndrome,
Paroxysmal familial ventricular fibrillation, Cardiovascular phenotype, Cardiac arrhythmia,
not specified, Brugada syndrome, Long QT syndrome,
Progressive familial heart block		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr3:38618279
GRCh38:
Chr3:38576788
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3,
Congenital long QT syndrome, not specified, Cardiac arrhythmia,
Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A		Conflicting interpretations of pathogenicity
(Oct 29, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr3:38618200
GRCh38:
Chr3:38576709
SCN5AP1154S, P1155S, P1101SSUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Cardiovascular phenotype,
not provided, Congenital long QT syndromeBrugada syndrome,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
...see more		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr3:38595912
GRCh38:
Chr3:38554421
SCN5ACongenital long QT syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1,
Long QT syndrome 3		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr3:38593036
GRCh38:
Chr3:38551545
SCN5ABrugada syndrome 1, Long QT syndrome 3, Cardiovascular phenotype,
Cardiac arrhythmia, Congenital long QT syndrome, Brugada syndrome,
not provided, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Sick sinus syndrome 1 ...see more		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr3:38592577
GRCh38:
Chr3:38551086
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Cardiovascular phenotype, Congenital long QT syndrome, Cardiac arrhythmia,
Brugada syndrome, not provided, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A ...see more		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
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