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Links from MedGen

Items: 71

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:90863575-90871061
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Uncertain significance
(Feb 9, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:90870225
GRCh38:
Chr14:90403881
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Sep 6, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr14:90870324
GRCh38:
Chr14:90403980
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Oct 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr14:90870261
GRCh38:
Chr14:90403917
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Feb 20, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr14:90870202
GRCh38:
Chr14:90403858
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Jul 26, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr14:90866451
GRCh38:
Chr14:90400107
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Oct 22, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr14:90870839
GRCh38:
Chr14:90404495
CALM1, LOC126862021D135E, D134E, D98ECatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Uncertain significance
(May 2, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr14:90870723
GRCh38:
Chr14:90404379
CALM1D97Y, D60Y, D96YCatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Pathogenic
(Jun 21, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr14:90867766
GRCh38:
Chr14:90401422
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Aug 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr14:90867638
GRCh38:
Chr14:90401294
CALM1G25S, G24SLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Uncertain significance
(Dec 27, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr14:90866402
GRCh38:
Chr14:90400058
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Apr 22, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr14:90870327
GRCh38:
Chr14:90403983
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Mar 11, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr14:90866403
GRCh38:
Chr14:90400059
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Aug 27, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr14:90867584
GRCh38:
Chr14:90401240
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Jun 27, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr14:90867589
GRCh38:
Chr14:90401245
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Jun 10, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr14:90870192
GRCh38:
Chr14:90403848
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(May 21, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr14:90870240
GRCh38:
Chr14:90403896
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Feb 20, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr14:90870868
GRCh38:
Chr14:90404524
LOC126862021, CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Sep 23, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr14:90863587
GRCh38:
Chr14:90397243
CALM1, LOC130056272Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Apr 12, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr14:90867652
GRCh38:
Chr14:90401308
CALM1Cardiovascular phenotype, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
Likely benign
(May 18, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr14:90870795
GRCh38:
Chr14:90404451
CALM1, LOC126862021E120K, E121K, E84KLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Uncertain significance
(Oct 30, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr14:90867655
GRCh38:
Chr14:90401311
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Jun 30, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr14:90871013
GRCh38:
Chr14:90404669
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Jul 17, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr14:90867676
GRCh38:
Chr14:90401332
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Jan 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr14:90867686
GRCh38:
Chr14:90401342
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Nov 14, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr14:90863590
GRCh38:
Chr14:90397246
LOC130056272, CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Oct 25, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr14:90870252
GRCh38:
Chr14:90403908
CALM1Cardiovascular phenotype, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
Likely benign
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr14:90870332
GRCh38:
Chr14:90403988
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Oct 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr14:90870827
GRCh38:
Chr14:90404483
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Apr 10, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr14:90870329
GRCh38:
Chr14:90403985
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Nov 21, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr14:90870866-90870867
GRCh38:
Chr14:90404522-90404523
LOC126862021, CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Feb 9, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr14:90866455
GRCh38:
Chr14:90400111
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Aug 31, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr14:90866451
GRCh38:
Chr14:90400107
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Jun 27, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr14:90870854
GRCh38:
Chr14:90404510
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Mar 22, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr14:90870210
GRCh38:
Chr14:90403866
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Mar 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr14:90870839
GRCh38:
Chr14:90404495
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Oct 11, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr14:90870765
GRCh38:
Chr14:90404421
CALM1M110L, M111L, M74LCatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Uncertain significance
(Apr 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr14:90870832
GRCh38:
Chr14:90404488
CALM1, LOC126862021D132G, D133G, D96GLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Pathogenic
(Oct 14, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr14:90863357
GRCh38:
Chr14:90397013
CALM1, LOC112272566not provided, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr14:90867658
GRCh38:
Chr14:90401314
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Sep 15, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr14:90870294
GRCh38:
Chr14:90403950
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Mar 27, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr14:90871037
GRCh38:
Chr14:90404693
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Jun 3, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:90870860-90870861
GRCh38:
Chr14:90404516-90404517
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Oct 30, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr14:90866400
GRCh38:
Chr14:90400056
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Likely benign
(Aug 20, 2020)
criteria provided, single submitter
45.
GRCh37:
Chr14:90870713-90871071
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Uncertain significance
(Feb 27, 2020)
criteria provided, single submitter
46.
GRCh37:
Chr14:90871037
GRCh38:
Chr14:90404693
CALM1, LOC126862021F142L, F143L, F106LLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Pathogenic
(Sep 2, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr14:90870832
GRCh38:
Chr14:90404488
CALM1, LOC126862021D133V, D132V, D96VCatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Pathogenic
(Aug 28, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr14:90870307
GRCh38:
Chr14:90403963
CALM1D94H, D58H, D95HLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr14:90867674
GRCh38:
Chr14:90401330
CALM1V37L, V36LCatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr14:90870228
GRCh38:
Chr14:90403884
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Cardiovascular phenotype
Likely benign
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr14:90866346
GRCh38:
Chr14:90400002
CALM1not provided, Catecholaminergic polymorphic ventricular tachycardia 4Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr14:90863489
GRCh38:
Chr14:90397145
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr14:90870738
GRCh38:
Chr14:90404394
CALM1I65V, I101V, I102VCatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr14:90870831
GRCh38:
Chr14:90404487
CALM1, LOC126862021D96N, D132N, D133NCatecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14Pathogenic
(Aug 12, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr14:90870848
GRCh38:
Chr14:90404504
CALM1, LOC126862021Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Cardiovascular phenotype
Likely benign
(Oct 14, 2020)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr14:90870300
GRCh38:
Chr14:90403956
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely benign
(Oct 14, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr14:90870835
GRCh38:
Chr14:90404491
CALM1, LOC126862021G133E, G134E, G97ELong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Likely pathogenic
(Aug 13, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr14:90871016-90871017
GRCh38:
Chr14:90404672-90404673
CALM1, LOC126862021Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, not specified
Likely benign
(May 2, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr14:90867646
GRCh38:
Chr14:90401302
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr14:90867637
GRCh38:
Chr14:90401293
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Cardiovascular phenotype
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr14:90870740
GRCh38:
Chr14:90404396
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, not provided,
Cardiovascular phenotype
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr14:90867725
GRCh38:
Chr14:90401381
CALM1I53V, I17V, I54VLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4Uncertain significance
(Aug 13, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr14:90871035
GRCh38:
Chr14:90404691
LOC126862021, CALM1F142L, F143L, F106LLong QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, not provided
Pathogenic
(Jun 21, 2023)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr14:90870863-90870866
GRCh38:
Chr14:90404519-90404522
CALM1, LOC126862021not specified, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr14:90866423
GRCh38:
Chr14:90400079
CALM1Cardiovascular phenotype, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4,
not provided
Likely benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr14:90866399
GRCh38:
Chr14:90400055
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, not provided
Benign/Likely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr14:90870761
GRCh38:
Chr14:90404417
CALM1Cardiovascular phenotype, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4,
not provided
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr14:90867764
GRCh38:
Chr14:90401420
CALM1Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, not specified
Benign/Likely benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr14:90867640
GRCh38:
Chr14:90401296
CALM1Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Cardiovascular phenotype
Likely benign
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr14:90870730
GRCh38:
Chr14:90404386
CALM1N98S, N62S, N99SCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14,
Catecholaminergic polymorphic ventricular tachycardia 4, Catecholaminergic polymorphic ventricular tachycardia
Pathogenic/Likely pathogenic
(Jan 6, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr14:90867729
GRCh38:
Chr14:90401385
CALM1N54I, N18I, N55ICatecholaminergic polymorphic ventricular tachycardia 4Likely pathogenic
(Jul 22, 2020)
criteria provided, single submitter
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