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Items: 1 to 100 of 1570

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:
Chr19:47111566
GRCh38:
Chr19:46608309
CALM3Long QT syndrome 1Likely benign
(Sep 19, 2019)
criteria provided, single submitter
3.
GRCh37:
Chr19:47111557
GRCh38:
Chr19:46608300
CALM3Long QT syndrome 1Likely benign
(Mar 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr19:47112093
GRCh38:
Chr19:46608836
CALM3Long QT syndrome 1Likely benign
(Jul 19, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr19:47112093-47112094
GRCh38:
Chr19:46608836-46608837
CALM3Long QT syndrome 1Likely benign
(Nov 20, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr2:47389773
GRCh38:
Chr2:47162634
CALM2Long QT syndrome 1Likely benign
(Sep 10, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr2:47388947
GRCh38:
Chr2:47161808
CALM2Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:47389779
GRCh38:
Chr2:47162640
CALM2Long QT syndrome 1Likely benign
(Oct 28, 2020)
criteria provided, single submitter
9.
GRCh37:
Chr2:47389449
GRCh38:
Chr2:47162310
CALM2Long QT syndrome 1Likely benign
(Nov 10, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr2:47387936
GRCh38:
Chr2:47160797
CALM2Long QT syndrome 1Likely benign
(Jun 30, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr2:47389541-47389560
GRCh38:
Chr2:47162402-47162421
CALM2Long QT syndrome 1Likely benign
(Aug 30, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr2:47389671
GRCh38:
Chr2:47162532
CALM2Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Jun 24, 2020)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr19:47111833
GRCh38:
Chr19:46608576
CALM3Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr19:47112183
GRCh38:
Chr19:46608926
CALM3Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:47112404
GRCh38:
Chr19:46609147
CALM3Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:47109079
GRCh38:
Chr19:46605822
CALM3Long QT syndrome 1Likely benign
(Mar 4, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr2:47388886
GRCh38:
Chr2:47161747
CALM2G133S, G181S, G97SLong QT syndrome 1Likely pathogenic
(Aug 27, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr2:47397874
GRCh38:
Chr2:47170735
CALM2Long QT syndrome 1Uncertain significance
(Sep 30, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr19:47112212
GRCh38:
Chr19:46608955
CALM3D132V, D96VLong QT syndrome 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr2:47388859
GRCh38:
Chr2:47161720
CALM2Long QT syndrome 1Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:47389507
GRCh38:
Chr2:47162368
CALM2E116A, E68A, E32ALong QT syndrome 1Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr19:47109117
GRCh38:
Chr19:46605860
CALM3Cardiovascular phenotype, Long QT syndrome 1Uncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:47388866-47388867
GRCh38:
Chr2:47161727-47161728
CALM2Y103*, Y139*, Y187*Long QT syndrome 1Uncertain significance
(May 11, 2020)
criteria provided, single submitter
24.
GRCh37:
Chr2:47389732
GRCh38:
Chr2:47162593
CALM2T35I, T83ICardiovascular phenotype, not provided, Long QT syndrome 1
Uncertain significance
(Jul 28, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:47112377-47112378
GRCh38:
Chr19:46609120-46609121
CALM3Long QT syndrome 1Uncertain significance
(Jun 28, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:47388964
GRCh38:
Chr2:47161825
CALM2R107C, R71C, R155CLong QT syndrome 1, Cardiovascular phenotypeUncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:47388888
GRCh38:
Chr2:47161749
CALM2D132G, D96G, D180GLong QT syndrome 1Pathogenic
(Sep 2, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr2:47389420
GRCh38:
Chr2:47162281
CALM2Cardiovascular phenotype, Long QT syndrome 1Uncertain significance
(May 24, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr3:38655522
GRCh38:
Chr3:38614031
SCN5AS216LCongenital long QT syndrome, Cardiac arrhythmiaBenign/Likely benign
(Mar 3, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:47389463
GRCh38:
Chr2:47162324
CALM2E83K, E47K, E131KLong QT syndrome 1Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr19:47111735
GRCh38:
Chr19:46608478
CALM3Long QT syndrome 16, Long QT syndrome 1Uncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr2:47388894
GRCh38:
Chr2:47161755
CALM2D130G, D178G, D94GLong QT syndrome 1Likely pathogenic
(Aug 31, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr19:47111563
GRCh38:
Chr19:46608306
CALM3Long QT syndrome 1Likely benign
(Apr 16, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr2:47389713
GRCh38:
Chr2:47162574
CALM2Long QT syndrome 1Likely benign
(Apr 28, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr2:47403571
GRCh38:
Chr2:47176432
CALM2Long QT syndrome 1Likely benign
(Apr 11, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr19:47111444
GRCh38:
Chr19:46608187
CALM3Long QT syndrome 1Likely benign
(Dec 27, 2021)
criteria provided, single submitter
37.
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
38.
GRCh37:
Chr11:2797286
GRCh38:
Chr11:2776056
KCNQ1Congenital long QT syndromeLikely pathogenic
(Oct 21, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:2797189
GRCh38:
Chr11:2775959
KCNQ1Congenital long QT syndrome, Long QT syndromePathogenic/Likely pathogenic
(Aug 1, 2020)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr19:47111466
GRCh38:
Chr19:46608209
CALM3A16GLong QT syndrome 1Uncertain significance
(Jun 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:47112136
GRCh38:
Chr19:46608879
CALM3R107C, R71CLong QT syndrome 1Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:47111550
GRCh38:
Chr19:46608293
CALM3P44L, P8LLong QT syndrome 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr11:2592634
GRCh38:
Chr11:2571404
KCNQ1not provided, Long QT syndrome, Congenital long QT syndrome
Pathogenic/Likely pathogenic
(Apr 25, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:47388904
GRCh38:
Chr2:47161765
CALM2R91G, R127G, R175GLong QT syndrome 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr2:47388869
GRCh38:
Chr2:47161730
CALM2N102K, N138K, N186KLong QT syndrome 1Uncertain significance
(Aug 12, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr2:47388997
GRCh38:
Chr2:47161858
CALM2D144Y, D60Y, D96YLong QT syndrome 1Pathogenic
(Aug 31, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr12:2690777
GRCh38:
Chr12:2581611
CACNA1CN639K, N636KLong QT syndrome, Congenital long QT syndrome, Timothy syndrome
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:47389540
GRCh38:
Chr2:47162401
CALM2Long QT syndrome 1, not specifiedLikely benign
(Nov 20, 2018)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr19:47112171
GRCh38:
Chr19:46608914
CALM3Long QT syndrome 1, not provided, Cardiovascular phenotype
Likely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr19:47112382
GRCh38:
Chr19:46609125
CALM3E141G, E105GLong QT syndrome 1Likely pathogenic
(Sep 2, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr19:47112126
GRCh38:
Chr19:46608869
CALM3Cardiovascular phenotype, not provided, Long QT syndrome 1
Likely benign
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:47388935
GRCh38:
Chr2:47161796
CALM2Long QT syndrome 1, Cardiovascular phenotype, not specified
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:47389539
GRCh38:
Chr2:47162400
CALM2Long QT syndrome 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
54.
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
55.
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
56.
GRCh37:
Chr19:47112141
GRCh38:
Chr19:46608884
CALM3Cardiovascular phenotype, not specified, Long QT syndrome 1
Likely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:47109104
GRCh38:
Chr19:46605847
CALM3Long QT syndrome 1Likely benign
(Dec 10, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr2:47387950-47387952
GRCh38:
Chr2:47160811-47160813
CALM2not provided, Long QT syndrome 1Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr19:47112103
GRCh38:
Chr19:46608846
CALM3D96H, D60HLong QT syndrome 1Pathogenic
(Sep 1, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr19:47112242
GRCh38:
Chr19:46608985
CALM3Long QT syndrome 16, Long QT syndrome 1Uncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
61.
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
62.
GRCh37:
Chr7:91739967
GRCh38:
Chr7:92110653
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr7:91739935
GRCh38:
Chr7:92110621
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr7:91739589
GRCh38:
Chr7:92110275
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr7:91739552
GRCh38:
Chr7:92110238
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr7:91737810
GRCh38:
Chr7:92108496
AKAP9Y3850C, Y3842C, Y2065CCongenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
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
68.
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
69.
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
70.
GRCh37:
Chr7:91730197
GRCh38:
Chr7:92100883
AKAP9A3642S, A3634S, A1857SCongenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr7:91730174
GRCh38:
Chr7:92100860
AKAP9S3634C, S3626C, S1849CCongenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
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
79.
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
80.
GRCh37:
Chr7:91715687
GRCh38:
Chr7:92086373
AKAP9A3057E, A3049E, A1272ECongenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr7:91714971
GRCh38:
Chr7:92085657
AKAP9T2999A, T2991A, T1214ACongenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
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
83.
GRCh37:
Chr7:91712478
GRCh38:
Chr7:92083164
AKAP9Congenital long QT syndrome, Long QT syndromeConflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr7:91709003
GRCh38:
Chr7:92079689
AKAP9Y2519C, Y2511C, Y734CCongenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr7:91708381
GRCh38:
Chr7:92079067
AKAP9Long QT syndrome, Congenital long QT syndromeConflicting interpretations of pathogenicity
(Aug 3, 2021)
criteria provided, conflicting interpretations
86.
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
87.
GRCh37:
Chr7:91707132
GRCh38:
Chr7:92077818
AKAP9Congenital long QT syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr7:91699389
GRCh38:
Chr7:92070075
AKAP9S2126R, S341RCardiovascular phenotype, Congenital long QT syndromeUncertain significance
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
89.
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
90.
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
91.
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
92.
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
93.
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
94.
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
95.
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
96.
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
97.
GRCh37:
Chr7:91659224
GRCh38:
Chr7:92029910
AKAP9Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr7:91651646
GRCh38:
Chr7:92022332
AKAP9M1311KCongenital long QT syndrome, Cardiovascular phenotypeUncertain significance
(Dec 8, 2020)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr7:91651588
GRCh38:
Chr7:92022274
AKAP9F1292LCongenital long QT syndrome, Long QT syndromeUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr7:91645538
GRCh38:
Chr7:92016224
AKAP9E1236DCongenital long QT syndrome, Long QT syndromeUncertain significance
(Oct 27, 2021)
criteria provided, multiple submitters, no conflicts
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