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Items: 1 to 100 of 293

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:62037993
GRCh38:
Chr20:63406640
KCNQ2not specified, KCNQ2-Related DisordersBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr20:62038003
GRCh38:
Chr20:63406650
KCNQ2Early infantile epileptic encephalopathy 7, not specified, Early infantile epileptic encephalopathy
Conflicting interpretations of pathogenicity
(Jul 18, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr20:62038012
GRCh38:
Chr20:63406659
KCNQ2not specifiedLikely benign
(Jan 8, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr20:62038032
GRCh38:
Chr20:63406679
KCNQ2not specifiedUncertain significance
(Jan 17, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr20:62038044
GRCh38:
Chr20:63406691
KCNQ2not specifiedUncertain significance
(Mar 9, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr20:62038045
GRCh38:
Chr20:63406692
KCNQ2not specified, Early infantile epileptic encephalopathyBenign/Likely benign
(Aug 15, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:62038056
GRCh38:
Chr20:63406703
KCNQ2not specifiedLikely benign
(Sep 16, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr20:62038060
GRCh38:
Chr20:63406707
KCNQ2not specified, KCNQ2-Related DisordersBenign/Likely benign
(Jul 12, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr20:62038061
GRCh38:
Chr20:63406708
KCNQ2not providedPathogenic
(Jul 16, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr20:62038061
GRCh38:
Chr20:63406708
KCNQ2not specifiedUncertain significance
(Oct 9, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr20:62038072
GRCh38:
Chr20:63406719
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr20:62038073
GRCh38:
Chr20:63406720
KCNQ2not specifiedUncertain significance
(Mar 21, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr20:62038081
GRCh38:
Chr20:63406728
KCNQ2not specifiedBenign
(Oct 13, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr20:62038087
GRCh38:
Chr20:63406734
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Nov 30, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr20:62038151
GRCh38:
Chr20:63406798
KCNQ2not specifiedUncertain significance
(Sep 12, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr20:62038170
GRCh38:
Chr20:63406817
KCNQ2not specifiedUncertain significance
(Nov 11, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr20:62038212
GRCh38:
Chr20:63406859
KCNQ2not specifiedUncertain significance
(Mar 22, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr20:62038215
GRCh38:
Chr20:63406862
KCNQ2not providedPathogenic
(Jul 2, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr20:62038231
GRCh38:
Chr20:63406878
KCNQ2not specifiedBenign
(Jun 3, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr20:62038239
GRCh38:
Chr20:63406886
KCNQ2not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr20:62038272
GRCh38:
Chr20:63406919
KCNQ2not specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr20:62038277
GRCh38:
Chr20:63406924
KCNQ2Benign familial neonatal seizures 1, not specified, KCNQ2-Related Disorders
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr20:62038285
GRCh38:
Chr20:63406932
KCNQ2not specifiedLikely benign
(Feb 4, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr20:62038286
GRCh38:
Chr20:63406933
KCNQ2not specifiedLikely benign
(Nov 15, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr20:62038287
GRCh38:
Chr20:63406934
KCNQ2not specified, Continuous spike and waves during slow-wave sleep syndromeConflicting interpretations of pathogenicity
(Nov 16, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr20:62038295
GRCh38:
Chr20:63406942
KCNQ2not specifiedUncertain significance
(Apr 19, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr20:62038350
GRCh38:
Chr20:63406997
KCNQ2not specifiedLikely benign
(Dec 15, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr20:62038352
GRCh38:
Chr20:63406999
KCNQ2not specified, Early infantile epileptic encephalopathyBenign/Likely benign
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr20:62038371
GRCh38:
Chr20:63407018
KCNQ2not providedPathogenic
(Nov 12, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr20:62038372
GRCh38:
Chr20:63407019
KCNQ2not specifiedLikely benign
(Nov 9, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr20:62038381
GRCh38:
Chr20:63407028
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr20:62038382
GRCh38:
Chr20:63407029
KCNQ2not specifiedUncertain significance
(Nov 29, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr20:62038384
GRCh38:
Chr20:63407031
KCNQ2not specifiedLikely benign
(Nov 18, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr20:62038397
GRCh38:
Chr20:63407044
KCNQ2not specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr20:62038408
GRCh38:
Chr20:63407055
KCNQ2not specifiedLikely benign
(Aug 19, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr20:62038489-62038490
GRCh38:
Chr20:63407136-63407137
KCNQ2not provided, Inborn genetic diseasesPathogenic
(Jun 24, 2013)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr20:62038489
GRCh38:
Chr20:63407136
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Mar 31, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr20:62038490
GRCh38:
Chr20:63407137
KCNQ2not providedPathogenic
(Apr 13, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr20:62038510
GRCh38:
Chr20:63407157
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr20:62038512-62038514
GRCh38:
Chr20:63407159-63407161
KCNQ2not specifiedUncertain significance
(Nov 4, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr20:62038544
GRCh38:
Chr20:63407191
KCNQ2not specifiedUncertain significance
(Aug 15, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr20:62038551
GRCh38:
Chr20:63407198
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Dec 21, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr20:62038566
GRCh38:
Chr20:63407213
KCNQ2not specifiedUncertain significance
(Nov 26, 2013)
criteria provided, single submitter
44.
GRCh37:
Chr20:62038567
GRCh38:
Chr20:63407214
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Conflicting interpretations of pathogenicity
(Jan 10, 2017)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr20:62038585
GRCh38:
Chr20:63407232
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr20:62038609
GRCh38:
Chr20:63407256
KCNQ2not specifiedLikely benign
(Oct 26, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr20:62038616
GRCh38:
Chr20:63407263
KCNQ2not specifiedUncertain significance
(Nov 11, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr20:62038661
GRCh38:
Chr20:63407308
KCNQ2not specifiedUncertain significance
(May 18, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr20:62038679
GRCh38:
Chr20:63407326
KCNQ2not providedLikely pathogenic
(Aug 8, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr20:62038686
GRCh38:
Chr20:63407333
KCNQ2not providedPathogenic
(Jan 24, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr20:62038707
GRCh38:
Chr20:63407354
KCNQ2not specifiedLikely benign
(Jan 19, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr20:62038728
GRCh38:
Chr20:63407375
KCNQ2not providedPathogenic
(Dec 11, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr20:62039749
GRCh38:
Chr20:63408396
KCNQ2not specifiedBenign
(Jun 29, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr20:62039750
GRCh38:
Chr20:63408397
KCNQ2not specifiedBenign
(Apr 16, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr20:62039750
GRCh38:
Chr20:63408397
KCNQ2not specifiedLikely benign
(Sep 21, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr20:62039761
GRCh38:
Chr20:63408408
KCNQ2Benign familial neonatal seizures 1, not specified, not provided
Conflicting interpretations of pathogenicity
(Jul 31, 2016)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr20:62039765
GRCh38:
Chr20:63408412
KCNQ2not providedPathogenic
(Nov 17, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr20:62039789
GRCh38:
Chr20:63408436
KCNQ2not providedLikely pathogenic
(Mar 29, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr20:62039820
GRCh38:
Chr20:63408467
KCNQ2not specifiedBenign
(Feb 4, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr20:62039821
GRCh38:
Chr20:63408468
KCNQ2not specifiedLikely benign
(Aug 27, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr20:62039826
GRCh38:
Chr20:63408473
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Conflicting interpretations of pathogenicity
(Jul 10, 2016)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr20:62039839
GRCh38:
Chr20:63408486
KCNQ2not specified, Early infantile epileptic encephalopathyUncertain significance
(Sep 15, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr20:62039843
GRCh38:
Chr20:63408490
KCNQ2not specifiedUncertain significance
(Mar 13, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr20:62039860
GRCh38:
Chr20:63408507
KCNQ2not specifiedUncertain significance
(Mar 27, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr20:62039890
GRCh38:
Chr20:63408537
KCNQ2not providedPathogenic
(Feb 25, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr20:62044783
GRCh38:
Chr20:63413430
KCNQ2not specifiedLikely benign
(Jul 21, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr20:62044786
GRCh38:
Chr20:63413433
KCNQ2not specifiedBenign
(Mar 7, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr20:62044809
GRCh38:
Chr20:63413456
KCNQ2not specifiedUncertain significance
(Sep 26, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr20:62044824
GRCh38:
Chr20:63413471
KCNQ2not providedLikely pathogenic
(Aug 8, 2012)
criteria provided, single submitter
70.
GRCh37:
Chr20:62044824
GRCh38:
Chr20:63413471
KCNQ2Benign familial neonatal seizures 1, not provided, Epileptic encephalopathy
Pathogenic/Likely pathogenic
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr20:62044825
GRCh38:
Chr20:63413472
KCNQ2Early infantile epileptic encephalopathy 7, not providedPathogenic
(Jun 27, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr20:62044825
GRCh38:
Chr20:63413472
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Mar 31, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr20:62044831-62044832
GRCh38:
Chr20:63413478-63413479
KCNQ2not providedPathogenic
(Jul 30, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr20:62044832
GRCh38:
Chr20:63413479
KCNQ2Early infantile epileptic encephalopathy 7, not providedPathogenic
(Feb 3, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr20:62044834
GRCh38:
Chr20:63413481
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic/Likely pathogenic
(Feb 3, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr20:62044847
GRCh38:
Chr20:63413494
KCNQ2not specified, KCNQ2-Related Disorders, Early infantile epileptic encephalopathy
Benign/Likely benign
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr20:62044868
GRCh38:
Chr20:63413515
KCNQ2not specifiedLikely benign
(Aug 22, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr20:62044877
GRCh38:
Chr20:63413524
KCNQ2Early infantile epileptic encephalopathy 7, not specified, KCNQ2-Related Disorders,
Early infantile epileptic encephalopathy
Conflicting interpretations of pathogenicity
(Jan 18, 2017)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr20:62044879
GRCh38:
Chr20:63413526
KCNQ2Early infantile epileptic encephalopathy 7, not providedPathogenic
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr20:62044880
GRCh38:
Chr20:63413527
KCNQ2not providedPathogenic
(Jun 8, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr20:62044884
GRCh38:
Chr20:63413531
KCNQ2Early infantile epileptic encephalopathy 7, not providedPathogenic
(Mar 31, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr20:62044887
GRCh38:
Chr20:63413534
KCNQ2not providedLikely pathogenic
(Sep 14, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr20:62044888
GRCh38:
Chr20:63413535
KCNQ2Early infantile epileptic encephalopathy 7, not provided, Early infantile epileptic encephalopathy
Pathogenic
(Nov 8, 2016)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr20:62044908
GRCh38:
Chr20:63413555
KCNQ2Early infantile epileptic encephalopathy 7, not providedPathogenic
(Mar 31, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr20:62044908
GRCh38:
Chr20:63413555
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Feb 2, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr20:62044909
GRCh38:
Chr20:63413556
KCNQ2Benign familial neonatal seizures 1, Early infantile epileptic encephalopathy 7, not provided
Pathogenic
(Mar 31, 2016)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr20:62044926
GRCh38:
Chr20:63413573
KCNQ2not providedLikely pathogenic
(Nov 3, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr20:62044927
GRCh38:
Chr20:63413574
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic/Likely pathogenic
(Sep 2, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr20:62044929
GRCh38:
Chr20:63413576
KCNQ2not providedPathogenic
(Aug 16, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr20:62044933
GRCh38:
Chr20:63413580
KCNQ2not specifiedUncertain significance
(Mar 31, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr20:62044935
GRCh38:
Chr20:63413582
KCNQ2not providedPathogenic
(Jul 26, 2013)
criteria provided, single submitter
92.
GRCh37:
Chr20:62044952
GRCh38:
Chr20:63413599
KCNQ2not specifiedBenign
(Nov 4, 2013)
criteria provided, single submitter
93.
GRCh37:
Chr20:62045422
GRCh38:
Chr20:63414069
KCNQ2not specifiedLikely benign
(Jan 20, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr20:62045423
GRCh38:
Chr20:63414070
KCNQ2not specifiedLikely benign
(May 6, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr20:62045440
GRCh38:
Chr20:63414087
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Mar 31, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr20:62045441
GRCh38:
Chr20:63414088
KCNQ2not providedLikely pathogenic
(Nov 28, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr20:62045445
GRCh38:
Chr20:63414092
KCNQ2not specifiedUncertain significance
(Jan 25, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr20:62045447
GRCh38:
Chr20:63414094
KCNQ2not specifiedUncertain significance
(Jan 17, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr20:62045468
GRCh38:
Chr20:63414115
KCNQ2not providedPathogenic
(Mar 15, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr20:62045470
GRCh38:
Chr20:63414117
KCNQ2Early infantile epileptic encephalopathy 7, not specifiedConflicting interpretations of pathogenicity
(Sep 22, 2016)
criteria provided, conflicting interpretations
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