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Items: 1 to 100 of 126

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:35883621
GRCh38:
Chr21:34511323
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr21:35821826-35821827
GRCh38:
Chr21:34449528-34449529
KCNE1R36fsLong QT syndrome 5Likely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr21:35821687
GRCh38:
Chr21:34449389
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Likely benign
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr21:35821697
GRCh38:
Chr21:34449399
KCNE1N79SLong QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr21:35821742
GRCh38:
Chr21:34449444
KCNE1S64IJervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype,
Long QT syndrome
Uncertain significance
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr21:35821815-35821902
GRCh38:
Chr21:34449517-34449604
KCNE1P11fsLong QT syndrome 5Likely pathogenic
(Jul 16, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr21:35821734
GRCh38:
Chr21:34449436
KCNE1R67SJervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, not provided,
Long QT syndrome
Uncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr21:35821791
GRCh38:
Chr21:34449493
KCNE1L48FCardiovascular phenotype, Long QT syndrome, not provided,
Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr21:35821853
GRCh38:
Chr21:34449555
KCNE1M27TLong QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr21:35821813
GRCh38:
Chr21:34449515
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype,
Long QT syndrome
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr21:35884479
GRCh38:
Chr21:34512181
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Likely benign
(Apr 27, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr21:35883435
GRCh38:
Chr21:34511137
KCNE1not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Benign
(Apr 28, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr21:35883407
GRCh38:
Chr21:34511109
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr21:35821586
GRCh38:
Chr21:34449288
KCNE1E116AJervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype
Uncertain significance
(Jun 12, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr21:35820004
GRCh38:
Chr21:34447706
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr21:35820001
GRCh38:
Chr21:34447703
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome 2,
Long QT syndrome 5
Uncertain significance
(Aug 9, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr21:35819420
GRCh38:
Chr21:34447122
KCNE1not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Benign/Likely benign
(May 24, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr21:35884469
GRCh38:
Chr21:34512171
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr21:35821956
GRCh38:
Chr21:34449658
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr21:35820583
GRCh38:
Chr21:34448285
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Oct 14, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr21:35819337
GRCh38:
Chr21:34447039
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr21:35819245
GRCh38:
Chr21:34446947
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr21:35883571
GRCh38:
Chr21:34511273
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Aug 25, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr21:35821265
GRCh38:
Chr21:34448967
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr21:35821177
GRCh38:
Chr21:34448879
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr21:35820465
GRCh38:
Chr21:34448167
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr21:35819686
GRCh38:
Chr21:34447388
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr21:35819150
GRCh38:
Chr21:34446852
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr21:35821168
GRCh38:
Chr21:34448870
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr21:35820253
GRCh38:
Chr21:34447955
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr21:35819068
GRCh38:
Chr21:34446770
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2,
Long QT syndrome 5
Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr21:35821754
GRCh38:
Chr21:34449456
KCNE1G60Dnot provided, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2,
Long QT syndrome 5
Uncertain significance
(Dec 27, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr21:35821598
GRCh38:
Chr21:34449300
KCNE1H112RCardiovascular phenotype, Long QT syndrome, Long QT syndrome 5
Uncertain significance
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr21:35821734
GRCh38:
Chr21:34449436
KCNE1R67GLong QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr21:35821753-35821767
GRCh38:
Chr21:34449455-34449469
KCNE1Long QT syndrome 5Likely pathogenic
(Sep 6, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr21:35821725
GRCh38:
Chr21:34449427
KCNE1K70QCardiovascular phenotype, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2,
Long QT syndrome 5
Uncertain significance
(Apr 18, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr21:35821822
GRCh38:
Chr21:34449524
KCNE1not specified, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2,
Long QT syndrome 5
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr21:35821937
GRCh38:
Chr21:34449639
KCNE1not provided, Long QT syndrome 5, Cardiovascular phenotype,
not specified, Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(May 22, 2023)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr21:35821821-35821822
GRCh38:
Chr21:34449523-34449524
KCNE1S38Gnot provided, Long QT syndrome, Cardiovascular phenotype,
Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Benign/Likely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr21:35821920-35821921
GRCh38:
Chr21:34449622-34449623
KCNE1N5*Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
not provided, Long QT syndrome
Pathogenic
(Jun 7, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr21:35884478
GRCh38:
Chr21:34512180
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome,
Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Sep 15, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr21:35884470
GRCh38:
Chr21:34512172
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr21:35884415
GRCh38:
Chr21:34512117
KCNE1Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr21:35884412
GRCh38:
Chr21:34512114
KCNE1Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Benign
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr21:35884380
GRCh38:
Chr21:34512082
KCNE1Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr21:35884312
GRCh38:
Chr21:34512014
KCNE1Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr21:35883612
GRCh38:
Chr21:34511314
KCNE1Congenital long QT syndrome, not provided, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr21:35883535
GRCh38:
Chr21:34511237
KCNE1Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr21:35883490
GRCh38:
Chr21:34511192
KCNE1Congenital long QT syndrome, not provided, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr21:35883489
GRCh38:
Chr21:34511191
KCNE1Congenital long QT syndrome, not provided, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr21:35883462
GRCh38:
Chr21:34511164
KCNE1Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr21:35831002
GRCh38:
Chr21:34458704
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr21:35831001
GRCh38:
Chr21:34458703
KCNE1not specified, Long QT syndrome 5, Congenital long QT syndrome,
Jervell and Lange-Nielsen syndrome 2
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr21:35830983
GRCh38:
Chr21:34458685
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr21:35830958
GRCh38:
Chr21:34458660
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr21:35821945
GRCh38:
Chr21:34449647
KCNE1not specified, Long QT syndrome 5, Congenital long QT syndrome,
Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr21:35821879
GRCh38:
Chr21:34449581
KCNE1Cardiovascular phenotype, Long QT syndrome, Congenital long QT syndrome,
Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr21:35821513
GRCh38:
Chr21:34449215
KCNE1Long QT syndrome 5, Congenital long QT syndrome, not provided,
Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr21:35821419
GRCh38:
Chr21:34449121
KCNE1Long QT syndrome 5, Congenital long QT syndrome, not provided,
Jervell and Lange-Nielsen syndrome 2
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr21:35821411
GRCh38:
Chr21:34449113
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome,
not provided
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr21:35821347
GRCh38:
Chr21:34449049
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome,
not provided
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr21:35821275
GRCh38:
Chr21:34448977
KCNE1Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5,
not provided
Benign/Likely benign
(Jul 6, 2018)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr21:35821170
GRCh38:
Chr21:34448872
KCNE1Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr21:35821087
GRCh38:
Chr21:34448789
KCNE1Congenital long QT syndrome, Long QT syndrome 5, not provided,
Jervell and Lange-Nielsen syndrome 2
Benign
(Jun 13, 2019)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr21:35821086
GRCh38:
Chr21:34448788
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome,
Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome
Uncertain significance
(Sep 15, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr21:35821053
GRCh38:
Chr21:34448755
KCNE1Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5,
not provided
Benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr21:35821050
GRCh38:
Chr21:34448752
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr21:35820990
GRCh38:
Chr21:34448692
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr21:35820965
GRCh38:
Chr21:34448667
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome,
not provided
Benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr21:35820726
GRCh38:
Chr21:34448428
KCNE1Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr21:35820620
GRCh38:
Chr21:34448322
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr21:35820548
GRCh38:
Chr21:34448250
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr21:35820500
GRCh38:
Chr21:34448202
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr21:35820475
GRCh38:
Chr21:34448177
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr21:35820351
GRCh38:
Chr21:34448053
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr21:35820324
GRCh38:
Chr21:34448026
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome,
Congenital long QT syndrome, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr21:35820221
GRCh38:
Chr21:34447923
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome,
not provided
Benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr21:35820205
GRCh38:
Chr21:34447907
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr21:35820096
GRCh38:
Chr21:34447798
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Sep 3, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr21:35819987
GRCh38:
Chr21:34447689
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr21:35819969
GRCh38:
Chr21:34447671
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr21:35819960
GRCh38:
Chr21:34447662
KCNE1Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome,
Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome
Uncertain significance
(Sep 20, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr21:35819877
GRCh38:
Chr21:34447579
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr21:35819842
GRCh38:
Chr21:34447544
KCNE1Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome,
Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr21:35819728
GRCh38:
Chr21:34447430
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided,
Long QT syndrome 5
Benign/Likely benign
(May 24, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr21:35819712
GRCh38:
Chr21:34447414
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr21:35819711
GRCh38:
Chr21:34447413
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr21:35819705
GRCh38:
Chr21:34447407
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr21:35819684
GRCh38:
Chr21:34447386
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr21:35819615
GRCh38:
Chr21:34447317
KCNE1Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr21:35819543
GRCh38:
Chr21:34447245
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr21:35819542
GRCh38:
Chr21:34447244
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr21:35819536
GRCh38:
Chr21:34447238
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided,
Long QT syndrome 5
Benign
(May 12, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr21:35819535
GRCh38:
Chr21:34447237
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr21:35819445
GRCh38:
Chr21:34447147
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided,
Long QT syndrome 5
Benign/Likely benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr21:35819440
GRCh38:
Chr21:34447142
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided,
Long QT syndrome 5
Benign/Likely benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr21:35819393
GRCh38:
Chr21:34447095
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr21:35819349
GRCh38:
Chr21:34447051
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr21:35819223
GRCh38:
Chr21:34446925
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5,
Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr21:35819214
GRCh38:
Chr21:34446916
KCNE1Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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