S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 255

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:166847735
GRCh38:
Chr2:165991225
SCN1A, LOC102724058not specifiedBenign
(Dec 29, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr2:166847808
GRCh38:
Chr2:165991298
SCN1A, LOC102724058not specifiedLikely benign
(Jan 21, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr2:166847834
GRCh38:
Chr2:165991324
SCN1A, LOC102724058not specifiedUncertain significance
(Sep 5, 2013)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:166847873
GRCh38:
Chr2:165991363
SCN1A, LOC102724058not specifiedUncertain significance
(Dec 10, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr2:166847889
GRCh38:
Chr2:165991379
SCN1A, LOC102724058not specifiedUncertain significance
(Jan 13, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr2:166847915
GRCh38:
Chr2:165991405
SCN1A, LOC102724058not specified, not provided, West syndrome
Uncertain significance
(Jul 31, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:166847920
GRCh38:
Chr2:165991410
SCN1A, LOC102724058not specifiedLikely benign
(Oct 16, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr2:166847921
GRCh38:
Chr2:165991411
SCN1A, LOC102724058Familial hemiplegic migraine, Seizure Disorders, not specified,
not provided, Early infantile epileptic encephalopathy
Benign/Likely benign
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:166847933
GRCh38:
Chr2:165991423
SCN1A, LOC102724058not specifiedUncertain significance
(Jan 23, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr2:166847934
GRCh38:
Chr2:165991424
SCN1A, LOC102724058not specifiedUncertain significance
(Feb 28, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr2:166847962
GRCh38:
Chr2:165991452
SCN1A, LOC102724058not specifiedLikely benign
(May 25, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:166847963
GRCh38:
Chr2:165991453
SCN1A, LOC102724058not specifiedUncertain significance
(Mar 8, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr2:166847979
GRCh38:
Chr2:165991469
SCN1A, LOC102724058not providedLikely pathogenic
(Oct 2, 2013)
criteria provided, single submitter
14.
GRCh37:
Chr2:166847995-166848015
GRCh38:
Chr2:165991485-165991505
SCN1A, LOC102724058not specifiedUncertain significance
(Aug 28, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr2:166848003
GRCh38:
Chr2:165991493
SCN1A, LOC102724058Familial hemiplegic migraine, Seizure Disorders, not specified,
not provided, Early infantile epileptic encephalopathy
Conflicting interpretations of pathogenicity, not provided
(Jan 6, 2017)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:166848007
GRCh38:
Chr2:165991497
SCN1A, LOC102724058not providedPathogenic
(Feb 14, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr2:166848014
GRCh38:
Chr2:165991504
SCN1A, LOC102724058not specifiedUncertain significance
(May 28, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr2:166848019
GRCh38:
Chr2:165991509
SCN1A, LOC102724058not specifiedBenign
(Jun 5, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr2:166848020
GRCh38:
Chr2:165991510
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedLikely pathogenic
(Jul 18, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr2:166848022
GRCh38:
Chr2:165991512
SCN1A, LOC102724058not specifiedLikely benign
(Nov 25, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr2:166848030
GRCh38:
Chr2:165991520
SCN1A, LOC102724058not specifiedUncertain significance
(Nov 21, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr2:166848032
GRCh38:
Chr2:165991522
SCN1A, LOC102724058not providedLikely pathogenic
(Jan 2, 2013)
criteria provided, single submitter
23.
GRCh37:
Chr2:166848037-166848041
GRCh38:
Chr2:165991527-165991531
SCN1A, LOC102724058not providedPathogenic
(May 15, 2012)
criteria provided, single submitter
24.
GRCh37:
Chr2:166848039
GRCh38:
Chr2:165991529
SCN1A, LOC102724058not providedPathogenic
(Jul 9, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr2:166848039
GRCh38:
Chr2:165991529
SCN1A, LOC102724058not providedPathogenic
(Sep 15, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr2:166848042
GRCh38:
Chr2:165991532
SCN1A, LOC102724058not providedLikely pathogenic
(Aug 6, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr2:166848046
GRCh38:
Chr2:165991536
SCN1A, LOC102724058not specifiedLikely benign
(May 23, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr2:166848074-166848077
GRCh38:
Chr2:165991564-165991567
SCN1A, LOC102724058not providedPathogenic
(Feb 11, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr2:166848075
GRCh38:
Chr2:165991565
SCN1A, LOC102724058not providedPathogenic
(Sep 17, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr2:166848104
GRCh38:
Chr2:165991594
SCN1A, LOC102724058not providedLikely pathogenic
(Sep 26, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr2:166848108
GRCh38:
Chr2:165991598
SCN1A, LOC102724058not specifiedUncertain significance
(Apr 12, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr2:166848111
GRCh38:
Chr2:165991601
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Dec 20, 2014)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:166848129
GRCh38:
Chr2:165991619
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Dec 12, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:166848146
GRCh38:
Chr2:165991636
SCN1A, LOC102724058not specified, not providedUncertain significance
(Sep 30, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:166848158
GRCh38:
Chr2:165991648
SCN1A, LOC102724058not providedLikely pathogenic
(May 31, 2012)
criteria provided, single submitter
36.
GRCh37:
Chr2:166848165
GRCh38:
Chr2:165991655
SCN1A, LOC102724058not specifiedUncertain significance
(Oct 4, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr2:166848203
GRCh38:
Chr2:165991693
SCN1A, LOC102724058not providedLikely pathogenic
(Jul 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr2:166848217
GRCh38:
Chr2:165991707
SCN1A, LOC102724058not specifiedUncertain significance
(Feb 12, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr2:166848218
GRCh38:
Chr2:165991708
SCN1A, LOC102724058not providedPathogenic
(Oct 4, 2012)
criteria provided, single submitter
40.
GRCh37:
Chr2:166848218
GRCh38:
Chr2:165991708
SCN1A, LOC102724058not providedPathogenic
(Aug 27, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr2:166848221
GRCh38:
Chr2:165991711
SCN1A, LOC102724058not providedLikely pathogenic
(Jul 1, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr2:166848222
GRCh38:
Chr2:165991712
SCN1A, LOC102724058not specified, not providedConflicting interpretations of pathogenicity
(Feb 2, 2017)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr2:166848246-166848249
GRCh38:
Chr2:165991736-165991739
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Aug 29, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:166848273-166848281
GRCh38:
Chr2:165991763-165991771
SCN1A, LOC102724058not providedPathogenic
(Aug 8, 2013)
criteria provided, single submitter
45.
GRCh37:
Chr2:166848275
GRCh38:
Chr2:165991765
SCN1A, LOC102724058not specifiedUncertain significance
(Mar 18, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr2:166848279
GRCh38:
Chr2:165991769
SCN1A, LOC102724058not providedLikely pathogenic
(Aug 30, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr2:166848284
GRCh38:
Chr2:165991774
SCN1A, LOC102724058not specifiedUncertain significance
(Oct 14, 2013)
criteria provided, single submitter
48.
GRCh37:
Chr2:166848293
GRCh38:
Chr2:165991783
SCN1A, LOC102724058not providedPathogenic
(Jul 9, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr2:166848299
GRCh38:
Chr2:165991789
SCN1A, LOC102724058not providedLikely pathogenic
(Mar 22, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr2:166848350
GRCh38:
Chr2:165991840
SCN1A, LOC102724058not providedPathogenic
(Dec 15, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr2:166848351
GRCh38:
Chr2:165991841
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, Seizures, not provided
Likely pathogenic
(Mar 2, 2017)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:166848363
GRCh38:
Chr2:165991853
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Jan 4, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr2:166848367
GRCh38:
Chr2:165991857
SCN1A, LOC102724058Familial hemiplegic migraine, Seizure Disorders, not specified,
Early infantile epileptic encephalopathy
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:166848369
GRCh38:
Chr2:165991859
SCN1A, LOC102724058not providedPathogenic
(Jul 20, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr2:166848379-166848382
GRCh38:
Chr2:165991869-165991872
SCN1A, LOC102724058not providedPathogenic
(Aug 28, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr2:166848402
GRCh38:
Chr2:165991892
SCN1A, LOC102724058not providedLikely pathogenic
(Jun 29, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr2:166848402
GRCh38:
Chr2:165991892
SCN1A, LOC102724058Generalized epilepsy with febrile seizures plus, type 1, not specifiedUncertain significance
(May 1, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr2:166848410
GRCh38:
Chr2:165991900
SCN1A, LOC102724058not providedLikely pathogenic
(Jun 29, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr2:166848424
GRCh38:
Chr2:165991914
SCN1A, LOC102724058not providedLikely pathogenic
(May 1, 2015)
criteria provided, single submitter
60.
GRCh37:
Chr2:166848429
GRCh38:
Chr2:165991919
SCN1A, LOC102724058not specifiedBenign
(Apr 2, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr2:166848437
GRCh38:
Chr2:165991927
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, not provided
Pathogenic
(Jun 2, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:166848438
GRCh38:
Chr2:165991928
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Nov 10, 2015)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:166848439
GRCh38:
Chr2:165991929
SCN1A, LOC102724058not specifiedConflicting interpretations of pathogenicity
(Jan 14, 2015)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr2:166848447
GRCh38:
Chr2:165991937
SCN1A, LOC102724058not providedLikely pathogenic
(Jun 23, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr2:166848459
GRCh38:
Chr2:165991949
SCN1A, LOC102724058not specifiedUncertain significance
(Dec 2, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr2:166848479
GRCh38:
Chr2:165991969
SCN1A, LOC102724058not providedLikely pathogenic
(Jun 23, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr2:166848494
GRCh38:
Chr2:165991984
SCN1A, LOC102724058not providedLikely pathogenic
(Jul 22, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr2:166848503
GRCh38:
Chr2:165991993
SCN1A, LOC102724058not providedLikely pathogenic
(Nov 10, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr2:166848508-166848512
GRCh38:
Chr2:165991998-165992002
SCN1A, LOC102724058not providedPathogenic
(Jan 5, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr2:166848510
GRCh38:
Chr2:165992000
SCN1A, LOC102724058not providedLikely pathogenic
(Mar 16, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr2:166848515
GRCh38:
Chr2:165992005
SCN1A, LOC102724058not providedLikely pathogenic
(Jul 20, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr2:166848524
GRCh38:
Chr2:165992014
SCN1A, LOC102724058not providedLikely pathogenic
(Jul 10, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr2:166848540
GRCh38:
Chr2:165992030
SCN1A, LOC102724058not providedLikely pathogenic
(Nov 11, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr2:166848563
GRCh38:
Chr2:165992053
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Dec 20, 2014)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:166848567
GRCh38:
Chr2:165992057
SCN1A, LOC102724058not providedLikely pathogenic
(Dec 16, 2014)
criteria provided, single submitter
76.
GRCh37:
Chr2:166848587-166848603
GRCh38:
Chr2:165992077-165992093
SCN1A, LOC102724058not providedPathogenic
(May 8, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr2:166848596
GRCh38:
Chr2:165992086
SCN1A, LOC102724058not providedLikely pathogenic
(Dec 26, 2013)
criteria provided, single submitter
78.
GRCh37:
Chr2:166848617
GRCh38:
Chr2:165992107
SCN1A, LOC102724058not providedLikely pathogenic
(Oct 27, 2014)
criteria provided, single submitter
79.
GRCh37:
Chr2:166848623
GRCh38:
Chr2:165992113
SCN1A, LOC102724058not providedPathogenic
(Jul 23, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr2:166848639
GRCh38:
Chr2:165992129
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Aug 4, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr2:166848654
GRCh38:
Chr2:165992144
SCN1A, LOC102724058not providedLikely pathogenic
(Nov 24, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr2:166848658
GRCh38:
Chr2:165992148
SCN1A, LOC102724058not specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr2:166848664
GRCh38:
Chr2:165992154
SCN1A, LOC102724058not providedLikely pathogenic
(Mar 8, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr2:166848664
GRCh38:
Chr2:165992154
SCN1A, LOC102724058not providedLikely pathogenic
(Aug 5, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr2:166848681
GRCh38:
Chr2:165992171
SCN1A, LOC102724058not providedLikely pathogenic
(Jun 12, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr2:166848732
GRCh38:
Chr2:165992222
SCN1A, LOC102724058not providedLikely pathogenic
(Apr 7, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr2:166848732
GRCh38:
Chr2:165992222
SCN1A, LOC102724058not providedLikely pathogenic
(Dec 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr2:166848760-166848765
GRCh38:
Chr2:165992250-165992255
SCN1A, LOC102724058not providedPathogenic
(Dec 11, 2012)
criteria provided, single submitter
89.
GRCh37:
Chr2:166848772-166848775
GRCh38:
Chr2:165992262-165992265
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Dec 20, 2014)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:166848786
GRCh38:
Chr2:165992276
SCN1A, LOC102724058not providedLikely pathogenic
(Dec 29, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr2:166848790
GRCh38:
Chr2:165992280
SCN1A, LOC102724058not providedLikely pathogenic
(Mar 15, 2013)
criteria provided, single submitter
92.
GRCh37:
Chr2:166848805
GRCh38:
Chr2:165992295
SCN1A, LOC102724058not specifiedLikely benign
(Dec 16, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr2:166848813
GRCh38:
Chr2:165992303
SCN1A, LOC102724058not providedLikely pathogenic
(Feb 7, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr2:166848840
GRCh38:
Chr2:165992330
SCN1A, LOC102724058Familial hemiplegic migraine, Seizure Disorders, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:166848842
GRCh38:
Chr2:165992332
SCN1A, LOC102724058not providedPathogenic
(Feb 20, 2013)
criteria provided, single submitter
96.
GRCh37:
Chr2:166848842
GRCh38:
Chr2:165992332
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, not provided
Pathogenic
(Jul 10, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr2:166848851
GRCh38:
Chr2:165992341
SCN1A, LOC102724058Severe myoclonic epilepsy in infancy, not providedPathogenic
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:166848854
GRCh38:
Chr2:165992344
SCN1A, LOC102724058not providedPathogenic
(Sep 18, 2013)
criteria provided, single submitter
99.
GRCh37:
Chr2:166848862
GRCh38:
Chr2:165992352
SCN1A, LOC102724058not specifiedLikely benign
(Jul 8, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr2:166848869
GRCh38:
Chr2:165992359
SCN1A, LOC102724058not providedPathogenic
(May 13, 2014)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center