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ClinVar for MedGen (Select 342266)

Items: 75

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:62073782
GRCh38:
Chr20:63442429
KCNQ2Benign familial neonatal seizures 1, Early infantile epileptic encephalopathy 7, not provided
Pathogenic/Likely pathogenic
(Dec 16, 2014)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr20:62015806-62064474
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
3.
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
4.
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
5.
GRCh37:
Chr20:62062691
GRCh38:
Chr20:63431338
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
6.
GRCh37:
Chr20:62039895
GRCh38:
Chr20:63408542
KCNQ2Benign familial neonatal seizures 1GMAF:0.00040(A)Pathogenic
(Apr 27, 2010)
no assertion criteria provided
7.
GRCh37:
Chr20:62039891
GRCh38:
Chr20:63408538
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
8.
GRCh37:
Chr20:62046480
GRCh38:
Chr20:63415127
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
9.
GRCh37:
Chr20:62103520
GRCh38:
Chr20:63472167
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
10.
GRCh37:
Chr20:62070003
GRCh38:
Chr20:63438650
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
11.
GRCh37:
Chr20:62070004
GRCh38:
Chr20:63438651
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Nov 27, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr20:62070034
GRCh38:
Chr20:63438681
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
13.
GRCh37:
Chr20:62070062
GRCh38:
Chr20:63438709
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
14.
GRCh37:
Chr20:62070966-62070968
GRCh38:
Chr20:63439613-63439615
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
15.
GRCh37:
Chr20:62070997
GRCh38:
Chr20:63439644
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
16.
GRCh37:
Chr20:62071030-62071031
GRCh38:
Chr20:63439677-63439678
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
17.
GRCh37:
Chr20:62073763
GRCh38:
Chr20:63442410
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
18.
GRCh37:
Chr20:62073768
GRCh38:
Chr20:63442415
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Aug 7, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr20:62073802
GRCh38:
Chr20:63442449
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
20.
GRCh37:
Chr20:62073826
GRCh38:
Chr20:63442473
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
21.
GRCh37:
Chr20:62073835
GRCh38:
Chr20:63442482
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
22.
GRCh37:
Chr20:62073848
GRCh38:
Chr20:63442495
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
23.
GRCh37:
Chr20:62076018
GRCh38:
Chr20:63444665
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
24.
GRCh37:
Chr20:62103751-62103754
GRCh38:
Chr20:63472398-63472401
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
25.
GRCh37:
Chr20:62076065
GRCh38:
Chr20:63444712
KCNQ2Benign familial neonatal seizures 1, Early infantile epileptic encephalopathy 7, not provided
Pathogenic
(Feb 18, 2015)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr20:62076067
GRCh38:
Chr20:63444714
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
27.
GRCh37:
Chr20:62076080
GRCh38:
Chr20:63444727
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
28.
GRCh37:
Chr20:62076115
GRCh38:
Chr20:63444762
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
29.
GRCh37:
Chr20:62076117
GRCh38:
Chr20:63444764
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
30.
GRCh37:
Chr20:62076109-62076118
GRCh38:
Chr20:63444756-63444765
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
31.
GRCh37:
Chr20:62076717-62076719
GRCh38:
Chr20:63445364-63445366
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
32.
GRCh37:
Chr20:62078099
GRCh38:
Chr20:63446746
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
33.
GRCh37:
Chr20:62078122
GRCh38:
Chr20:63446769
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Sep 24, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr20:62078131
GRCh38:
Chr20:63446778
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
35.
GRCh37:
Chr20:62078139-62078141
GRCh38:
Chr20:63446786-63446788
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
36.
GRCh37:
Chr20:62078171-62078173
GRCh38:
Chr20:63446818-63446820
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
37.
GRCh37:
Chr20:62103815
GRCh38:
Chr20:63472462
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
38.
GRCh37:
Chr20:62038007-62038011
GRCh38:
Chr20:63406654-63406658
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
39.
GRCh37:
Chr20:62038019
GRCh38:
Chr20:63406666
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
40.
GRCh37:
Chr20:62038052
GRCh38:
Chr20:63406699
KCNQ2Benign familial neonatal seizures 1Benign
(Apr 27, 2010)
no assertion criteria provided
41.
GRCh37:
Chr20:62038277
GRCh38:
Chr20:63406924
KCNQ2Benign familial neonatal seizures 1, not specifiedGO-ESP:0.59870(G)
GMAF:0.40950(T)
Benign
(May 7, 2014)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr20:62103585
GRCh38:
Chr20:63472232
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
43.
GRCh37:
Chr20:62103613
GRCh38:
Chr20:63472260
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Dec 24, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr20:62038601
GRCh38:
Chr20:63407248
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
45.
GRCh37:
Chr20:62103816
GRCh38:
Chr20:63472463
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
46.
GRCh37:
Chr20:62038660
GRCh38:
Chr20:63407307
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
47.
GRCh37:
Chr20:62038686
GRCh38:
Chr20:63407333
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
48.
GRCh37:
Chr20:62038706
GRCh38:
Chr20:63407353
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
49.
GRCh37:
Chr20:62039889
GRCh38:
Chr20:63408536
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
50.
GRCh37:
Chr20:62044824
GRCh38:
Chr20:63413471
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Jan 7, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr20:62044825
GRCh38:
Chr20:63413472
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Oct 16, 2012)
criteria provided, single submitter
52.
GRCh37:
Chr20:62044908
GRCh38:
Chr20:63413555
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Sep 11, 2012)
criteria provided, single submitter
53.
GRCh37:
Chr20:62044935
GRCh38:
Chr20:63413582
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
54.
GRCh37:
Chr20:62045490-62045503
GRCh38:
Chr20:63414137-63414150
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
55.
GRCh37:
Chr20:62045527
GRCh38:
Chr20:63414174
KCNQ2Benign familial neonatal seizures 1, not specifiedGMAF:0.00600(G)Conflicting interpretations of pathogenicity
(Jun 12, 2013)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr20:62046255
GRCh38:
Chr20:63414902
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
57.
GRCh37:
Chr20:62046439
GRCh38:
Chr20:63415086
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Mar 24, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr20:62050985
GRCh38:
Chr20:63419632
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
59.
GRCh37:
Chr20:62059718
GRCh38:
Chr20:63428365
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
60.
GRCh37:
Chr20:62059744-62059745
GRCh38:
Chr20:63428391-63428392
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
61.
GRCh37:
Chr20:62065161
GRCh38:
Chr20:63433808
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
62.
GRCh37:
Chr20:62065204
GRCh38:
Chr20:63433851
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
63.
GRCh37:
Chr20:62065223
GRCh38:
Chr20:63433870
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
64.
GRCh37:
Chr20:62069985
GRCh38:
Chr20:63438632
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Apr 27, 2010)
no assertion criteria provided
65.
GRCh37:
Chr20:62076082
GRCh38:
Chr20:63444729
KCNQ2Benign familial neonatal seizures 1, Seizures, benign familial neonatal, 1, and/or myokymia, not provided
Pathogenic
(Sep 15, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr20:62038489
GRCh38:
Chr20:63407136
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic
(Jul 22, 2014)
criteria provided, single submitter
67.
GRCh37:
Chr20:62073835
GRCh38:
Chr20:63442482
KCNQ2Benign familial neonatal seizures 1, Early infantile epileptic encephalopathy 7Pathogenic
(Nov 6, 2012)
no assertion criteria provided
68.
GRCh37:
Chr20:62044904
GRCh38:
Chr20:63413551
KCNQ2Benign familial neonatal seizures 1, Early infantile epileptic encephalopathy 7Pathogenic
(Nov 6, 2012)
no assertion criteria provided
69.
KCNQ2Benign familial neonatal seizures 1, Early infantile epileptic encephalopathy 7Pathogenic
(Nov 6, 2012)
no assertion criteria provided
70.
GRCh37:
Chr20:62076083
GRCh38:
Chr20:63444730
KCNQ2Benign familial neonatal seizures 1, Seizures, benign familial neonatal, 1, and/or myokymia, not provided
Pathogenic
(Dec 17, 2014)
criteria provided, single submitter
71.
GRCh37:
Chr20:62076062
GRCh38:
Chr20:63444709
KCNQ2Benign familial neonatal seizures 1, not providedPathogenic/Likely pathogenic
(May 27, 2015)
criteria provided, single submitter
72.
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Nov 6, 2012)
no assertion criteria provided
73.
GRCh37:
Chr20:62044881-62044882
GRCh38:
Chr20:63413528-63413529
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Nov 6, 2012)
no assertion criteria provided
74.
GRCh37:
Chr20:62070962
GRCh38:
Chr20:63439609
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Nov 6, 2012)
no assertion criteria provided
75.
GRCh37:
Chr20:62071027
GRCh38:
Chr20:63439674
KCNQ2Benign familial neonatal seizures 1Pathogenic
(Nov 6, 2012)
no assertion criteria provided
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