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Links from MedGen

Items: 1 to 100 of 556

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:2466575
GRCh38:
Chr11:2445345
KCNQ1P83fsLong QT syndrome 1Likely pathogenic
(Apr 27, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr11:2606499
GRCh38:
Chr11:2585269
KCNQ1F237L, F274L, F364LShort QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1
Uncertain significance
(Aug 28, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:2542764
GRCh38:
Chr11:2521534
KCNQ1S27TAtrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2,
Long QT syndrome 1
Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr11:2591915
GRCh38:
Chr11:2570685
KCNQ1G179R, G52R, G89RLong QT syndrome 1Likely pathogenic
(Sep 30, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:47387915-47397923
CALM2Long QT syndrome 1Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:47388842-47403582
CALM2Long QT syndrome 1Uncertain significance
(Jan 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr19:47111435
GRCh38:
Chr19:46608178
CALM3Long QT syndrome 1Likely benign
(May 30, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:47111445
GRCh38:
Chr19:46608188
CALM3Long QT syndrome 1Likely benign
(May 9, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:47111752
GRCh38:
Chr19:46608495
CALM3Long QT syndrome 1Likely benign
(Apr 2, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:47111609
GRCh38:
Chr19:46608352
CALM3Long QT syndrome 1Likely benign
(Aug 19, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:47104708
GRCh38:
Chr19:46601451
CALM3Long QT syndrome 1Likely benign
(Oct 4, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:47387958
GRCh38:
Chr2:47160819
CALM2Long QT syndrome 1Likely benign
(Sep 3, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:47387955
GRCh38:
Chr2:47160816
CALM2Long QT syndrome 1Likely benign
(Oct 29, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr19:47112252
GRCh38:
Chr19:46608995
CALM3Long QT syndrome 1Likely benign
(Apr 25, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr2:47397854
GRCh38:
Chr2:47170715
CALM2Long QT syndrome 1Likely benign
(Dec 21, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr2:47389408
GRCh38:
Chr2:47162269
CALM2Long QT syndrome 1Likely benign
(Sep 19, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:47112127
GRCh38:
Chr19:46608870
CALM3A104T, A68TLong QT syndrome 1Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:47389651
GRCh38:
Chr2:47162512
CALM2Long QT syndrome 1Likely benign
(Oct 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:47112099
GRCh38:
Chr19:46608842
CALM3Long QT syndrome 1Likely benign
(Feb 24, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:47112377
GRCh38:
Chr19:46609120
CALM3Long QT syndrome 1Likely benign
(Feb 17, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:47389416
GRCh38:
Chr2:47162277
CALM2Long QT syndrome 1Likely benign
(Mar 18, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:47403567
GRCh38:
Chr2:47176428
CALM2Long QT syndrome 1Likely benign
(Jun 3, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:47111436
GRCh38:
Chr19:46608179
CALM3Long QT syndrome 1Likely benign
(Aug 16, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:47112244
GRCh38:
Chr19:46608987
CALM3Long QT syndrome 1Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:47388843
GRCh38:
Chr2:47161704
CALM2Long QT syndrome 1Likely benign
(Apr 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:47111726
GRCh38:
Chr19:46608469
CALM3Long QT syndrome 1Likely benign
(Aug 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:47403562
GRCh38:
Chr2:47176423
CALM2Long QT syndrome 1Likely benign
(Mar 13, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:47112386
GRCh38:
Chr19:46609129
CALM3F106L, F142LLong QT syndrome 1Uncertain significance
(Sep 2, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr2:47389641
GRCh38:
Chr2:47162502
CALM2Long QT syndrome 1Likely benign
(Mar 20, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:47388872
GRCh38:
Chr2:47161733
CALM2Long QT syndrome 1Likely benign
(Apr 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:47403563
GRCh38:
Chr2:47176424
CALM2Long QT syndrome 1Likely benign
(Feb 5, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:47397918
GRCh38:
Chr2:47170779
CALM2Long QT syndrome 1Likely benign
(Jan 17, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:47403562-47403571
GRCh38:
Chr2:47176423-47176432
CALM2Long QT syndrome 1Likely benign
(May 15, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:47111862
GRCh38:
Chr19:46608605
CALM3Long QT syndrome 1Likely benign
(Jun 22, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:47389546
GRCh38:
Chr2:47162407
CALM2Long QT syndrome 1Likely benign
(Mar 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:47109107
GRCh38:
Chr19:46605850
CALM3Long QT syndrome 1, Cardiovascular phenotypeLikely benign
(Nov 20, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr19:47111527
GRCh38:
Chr19:46608270
CALM3Long QT syndrome 1Likely benign
(Apr 29, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:47387954-47387955
GRCh38:
Chr2:47160815-47160816
CALM2Long QT syndrome 1Likely benign
(Feb 24, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:47389649
GRCh38:
Chr2:47162510
CALM2Long QT syndrome 1Likely benign
(Sep 17, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:47389713
GRCh38:
Chr2:47162574
CALM2Long QT syndrome 1Likely benign
(Oct 25, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:47389782
GRCh38:
Chr2:47162643
CALM2Long QT syndrome 1Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:47112248
GRCh38:
Chr19:46608991
CALM3Long QT syndrome 1Likely benign
(Jun 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:47397908
GRCh38:
Chr2:47170769
CALM2Long QT syndrome 1Likely benign
(Nov 27, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:47111819
GRCh38:
Chr19:46608562
CALM3R87*, R51*Long QT syndrome 1Uncertain significance
(Aug 25, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr19:47111494
GRCh38:
Chr19:46608237
CALM3Long QT syndrome 1Likely benign
(Jan 7, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:47111500
GRCh38:
Chr19:46608243
CALM3Long QT syndrome 1Likely benign
(Feb 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:47111584
GRCh38:
Chr19:46608327
CALM3Long QT syndrome 1Likely benign
(Sep 15, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:47389813
GRCh38:
Chr2:47162674
CALM2Long QT syndrome 1Likely benign
(Mar 5, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:47112187
GRCh38:
Chr19:46608930
CALM3E124K, E88KLong QT syndrome 1Uncertain significance
(Dec 15, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr19:47111440
GRCh38:
Chr19:46608183
CALM3Long QT syndrome 1Likely benign
(Mar 10, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:47389011
GRCh38:
Chr2:47161872
CALM2Long QT syndrome 1Likely benign
(Aug 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:47403568
GRCh38:
Chr2:47176429
CALM2Long QT syndrome 1Likely benign
(Oct 14, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:47109092
GRCh38:
Chr19:46605835
CALM3Long QT syndrome 1, Cardiovascular phenotypeLikely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr19:47112402
GRCh38:
Chr19:46609145
CALM3A112T, A148TCardiovascular phenotype, Long QT syndrome 1Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr19:47112156
GRCh38:
Chr19:46608899
CALM3Long QT syndrome 1, Cardiovascular phenotypeLikely benign
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:2604711
GRCh38:
Chr11:2583481
KCNQ1W175*, W196*, W233*, W323*Long QT syndrome 1Pathogenicno assertion criteria provided
57.
GRCh37:
Chr11:2466720
GRCh38:
Chr11:2445490
KCNQ1Long QT syndrome 1Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
58.
KCNQ1Beckwith-Wiedemann syndrome, Long QT syndrome 1Pathogenic
(Oct 24, 2022)
no assertion criteria provided
59.
GRCh37:
Chr11:2591893-2591894
GRCh38:
Chr11:2570663-2570664
KCNQ1G179fs, G52fsLong QT syndrome 1Likely pathogenic
(Dec 23, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr11:2683256
GRCh38:
Chr11:2662026
KCNQ1, KCNQ1OT1E307*, E360*, E397*, E455*, E487*Long QT syndrome 1Likely pathogenic
(Aug 23, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:47111721
GRCh38:
Chr19:46608464
CALM3Long QT syndrome 1Likely benign
(Mar 16, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:47397860-47397861
GRCh38:
Chr2:47170721-47170722
CALM2Long QT syndrome 1Likely benign
(Apr 26, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:47112150
GRCh38:
Chr19:46608893
CALM3Long QT syndrome 1Likely benign
(Sep 29, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr19:47111491
GRCh38:
Chr19:46608234
CALM3Long QT syndrome 1Likely benign
(Aug 31, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr2:47389405-47389411
GRCh38:
Chr2:47162266-47162272
CALM2Long QT syndrome 1Likely benign
(Oct 1, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr2:47397856
GRCh38:
Chr2:47170717
CALM2Long QT syndrome 1Likely benign
(Jul 19, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:47111593
GRCh38:
Chr19:46608336
CALM3Long QT syndrome 1Likely benign
(Feb 7, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr11:2798198
GRCh38:
Chr11:2776968
KCNQ1Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3,
Long QT syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2
Likely benign
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr19:47112407
GRCh38:
Chr19:46609150
CALM3Long QT syndrome 1Likely benign
(Mar 22, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr2:47389648
GRCh38:
Chr2:47162509
CALM2Long QT syndrome 1Likely benign
(Nov 23, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:47104706-47104707
GRCh38:
Chr19:46601449-46601450
CALM3Long QT syndrome 1Benign
(Aug 13, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr19:47112204
GRCh38:
Chr19:46608947
CALM3Long QT syndrome 1Likely benign
(Apr 14, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr19:47109067
GRCh38:
Chr19:46605810
CALM3Long QT syndrome 1Likely benign
(Jun 5, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr19:47111440
GRCh38:
Chr19:46608183
CALM3Long QT syndrome 1Benign
(Oct 17, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:47388866
GRCh38:
Chr2:47161727
CALM2Long QT syndrome 1Likely benign
(Aug 5, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr19:47104707
GRCh38:
Chr19:46601450
CALM3Long QT syndrome 1Likely benign
(Sep 8, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr19:47112084
GRCh38:
Chr19:46608827
CALM3Long QT syndrome 1Likely benign
(Aug 31, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr2:47389524
GRCh38:
Chr2:47162385
CALM2Long QT syndrome 1Likely benign
(Aug 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr19:47112219
GRCh38:
Chr19:46608962
CALM3Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Apr 16, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr19:47104712
GRCh38:
Chr19:46601455
CALM3Long QT syndrome 1Likely benign
(Sep 15, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr19:47109121
GRCh38:
Chr19:46605864
CALM3Long QT syndrome 1Likely benign
(Feb 11, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr2:47389646
GRCh38:
Chr2:47162507
CALM2Long QT syndrome 1Likely benign
(Jul 18, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr2:47387956
GRCh38:
Chr2:47160817
CALM2Long QT syndrome 1Likely benign
(Oct 8, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr2:47389546
GRCh38:
Chr2:47162407
CALM2Long QT syndrome 1Likely benign
(Apr 26, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:47111616
GRCh38:
Chr19:46608359
CALM3Long QT syndrome 1Benign
(Jul 14, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr19:47112389
GRCh38:
Chr19:46609132
CALM3Long QT syndrome 1Likely benign
(Mar 16, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:47397910-47397911
GRCh38:
Chr2:47170771-47170772
CALM2Long QT syndrome 1Likely benign
(Mar 18, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:47112374
GRCh38:
Chr19:46609117
CALM3Long QT syndrome 1Likely benign
(Dec 1, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr2:47389816
GRCh38:
Chr2:47162677
CALM2Long QT syndrome 1Likely benign
(Nov 9, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr19:47111797
GRCh38:
Chr19:46608540
CALM3Cardiovascular phenotype, Long QT syndrome 1Likely benign
(Jun 29, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr19:47111485
GRCh38:
Chr19:46608228
CALM3Long QT syndrome 1Likely benign
(Jul 26, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:47109104
GRCh38:
Chr19:46605847
CALM3E8DLong QT syndrome 1Uncertain significance
(Aug 17, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr19:47112211
GRCh38:
Chr19:46608954
CALM3D96N, D132NLong QT syndrome 1, Cardiovascular phenotypeUncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:47387942
GRCh38:
Chr2:47160803
CALM2E105D, E189D, E141DLong QT syndrome 1Likely pathogenic
(Oct 3, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr2:47388889
GRCh38:
Chr2:47161750
CALM2D180Y, D96Y, D132YLong QT syndrome 1Pathogenic
(Jul 25, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr19:47109064-47112410
CALM3Long QT syndrome 1Uncertain significance
(Apr 27, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr11:2683298
GRCh38:
Chr11:2662068
KCNQ1, KCNQ1OT1T501A, T374A, T469A, T411A, T321ALong QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome,
Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1
Uncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr19:47109081
GRCh38:
Chr19:46605824
CALM3Long QT syndrome 1Uncertain significance
(Sep 19, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr19:47104705
GRCh38:
Chr19:46601448
CALM3Long QT syndrome 1Likely benign
(Jul 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:47389808-47389811
GRCh38:
Chr2:47162669-47162672
CALM2Long QT syndrome 1Likely benign
(Aug 4, 2022)
criteria provided, single submitter
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