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Items: 1 to 100 of 156

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:152689450
GRCh38:
Chr2:151832936
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr2:152689493
GRCh38:
Chr2:151832979
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr2:152689638
GRCh38:
Chr2:151833124
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr2:152689656
GRCh38:
Chr2:151833142
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:152689770
GRCh38:
Chr2:151833256
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr2:152689778
GRCh38:
Chr2:151833264
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:152690011
GRCh38:
Chr2:151833497
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:152690071
GRCh38:
Chr2:151833557
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:152690146
GRCh38:
Chr2:151833632
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:152690200
GRCh38:
Chr2:151833686
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:152690215
GRCh38:
Chr2:151833701
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:152690248
GRCh38:
Chr2:151833734
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr2:152690261
GRCh38:
Chr2:151833747
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr2:152690511
GRCh38:
Chr2:151833997
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr2:152690604
GRCh38:
Chr2:151834090
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr2:152690611
GRCh38:
Chr2:151834097
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr2:152690657
GRCh38:
Chr2:151834143
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:152690664
GRCh38:
Chr2:151834150
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:152690714
GRCh38:
Chr2:151834200
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr2:152690788
GRCh38:
Chr2:151834274
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr2:152690860
GRCh38:
Chr2:151834346
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr2:152690862
GRCh38:
Chr2:151834348
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr2:152691063
GRCh38:
Chr2:151834549
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr2:152691064
GRCh38:
Chr2:151834550
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr2:152691488
GRCh38:
Chr2:151834974
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr2:152691502
GRCh38:
Chr2:151834988
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr2:152691552
GRCh38:
Chr2:151835038
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr2:152691829
GRCh38:
Chr2:151835315
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr2:152691945
GRCh38:
Chr2:151835431
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr2:152691965
GRCh38:
Chr2:151835451
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr2:152692158
GRCh38:
Chr2:151835644
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:152692246
GRCh38:
Chr2:151835732
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr2:152692476
GRCh38:
Chr2:151835962
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr2:152692709
GRCh38:
Chr2:151836195
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr2:152692748
GRCh38:
Chr2:151836234
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:152692796
GRCh38:
Chr2:151836282
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr2:152692855
GRCh38:
Chr2:151836341
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr2:152692904
GRCh38:
Chr2:151836390
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr2:152692938
GRCh38:
Chr2:151836424
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr2:152693091
GRCh38:
Chr2:151836577
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr2:152693242
GRCh38:
Chr2:151836728
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr2:152693423
GRCh38:
Chr2:151836909
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr2:152693445
GRCh38:
Chr2:151836931
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr2:152693445
GRCh38:
Chr2:151836931
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr2:152693470
GRCh38:
Chr2:151836956
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr2:152693681
GRCh38:
Chr2:151837167
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr2:152693691
GRCh38:
Chr2:151837177
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr2:152693696
GRCh38:
Chr2:151837182
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr2:152693702
GRCh38:
Chr2:151837188
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr2:152693722-152693723
GRCh38:
Chr2:151837208-151837209
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr2:152693724
GRCh38:
Chr2:151837210
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr2:152693807
GRCh38:
Chr2:151837293
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr2:152693819
GRCh38:
Chr2:151837305
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr2:152693822
GRCh38:
Chr2:151837308
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr2:152693848
GRCh38:
Chr2:151837334
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr2:152693977
GRCh38:
Chr2:151837463
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr2:152693998
GRCh38:
Chr2:151837484
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr2:152694113
GRCh38:
Chr2:151837599
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr2:152694132
GRCh38:
Chr2:151837618
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr2:152694132
GRCh38:
Chr2:151837618
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr2:152694174
GRCh38:
Chr2:151837660
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr2:152694349
GRCh38:
Chr2:151837835
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr2:152694447
GRCh38:
Chr2:151837933
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr2:152694448
GRCh38:
Chr2:151837934
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr2:152694523
GRCh38:
Chr2:151838009
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr2:152694540
GRCh38:
Chr2:151838026
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr2:152694624
GRCh38:
Chr2:151838110
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr2:152694743
GRCh38:
Chr2:151838229
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr2:152694768
GRCh38:
Chr2:151838254
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr2:152694838
GRCh38:
Chr2:151838324
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr2:152694846
GRCh38:
Chr2:151838332
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr2:152694896
GRCh38:
Chr2:151838382
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr2:152695009
GRCh38:
Chr2:151838495
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr2:152695009
GRCh38:
Chr2:151838495
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr2:152695041
GRCh38:
Chr2:151838527
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr2:152695105
GRCh38:
Chr2:151838591
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr2:152695179
GRCh38:
Chr2:151838665
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr2:152695179
GRCh38:
Chr2:151838665
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr2:152695190
GRCh38:
Chr2:151838676
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr2:152695190-152695191
GRCh38:
Chr2:151838676-151838677
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr2:152695191
GRCh38:
Chr2:151838677
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaBenign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr2:152695482
GRCh38:
Chr2:151838968
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr2:152695482
GRCh38:
Chr2:151838968
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr2:152695629
GRCh38:
Chr2:151839115
CACNB4Juvenile myoclonic epilepsy, Episodic ataxia, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr2:152695643
GRCh38:
Chr2:151839129
CACNB4Idiopathic generalized epilepsyUncertain significance
(Jun 21, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr2:152695646
GRCh38:
Chr2:151839132
CACNB4not specifiedUncertain significance
(Jan 20, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr2:152695647
GRCh38:
Chr2:151839133
CACNB4not specifiedUncertain significance
(Nov 6, 2013)
criteria provided, single submitter
88.
GRCh37:
Chr2:152695687
GRCh38:
Chr2:151839173
CACNB4Idiopathic generalized epilepsyUncertain significance
(Aug 20, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr2:152695692
GRCh38:
Chr2:151839178
CACNB4not providedUncertain significance
(Jul 31, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr2:152695752
GRCh38:
Chr2:151839238
CACNB4Epilepsy, juvenile myoclonic 6risk factor
(May 1, 2000)
no assertion criteria provided
91.
GRCh37:
Chr2:152695759
GRCh38:
Chr2:151839245
CACNB4not specifiedUncertain significance
(Sep 17, 2014)
criteria provided, single submitter
92.
GRCh37:
Chr2:152695783
GRCh38:
Chr2:151839269
CACNB4Idiopathic generalized epilepsy, Juvenile myoclonic epilepsy, Episodic ataxia,
not specified
Conflicting interpretations of pathogenicity
(Sep 9, 2016)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr2:152695841
GRCh38:
Chr2:151839327
CACNB4Idiopathic generalized epilepsy, not specifiedUncertain significance
(Aug 26, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:152695848
GRCh38:
Chr2:151839334
CACNB4not specifiedUncertain significance
(Oct 9, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr2:152695853
GRCh38:
Chr2:151839339
CACNB4not specifiedUncertain significance
(Apr 6, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr2:152695896
GRCh38:
Chr2:151839382
CACNB4Idiopathic generalized epilepsy, Juvenile myoclonic epilepsy, Episodic ataxia,
not specified
Benign/Likely benign
(Dec 7, 2016)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:152698439
GRCh38:
Chr2:151841925
CACNB4not specifiedUncertain significance
(Jun 24, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr2:152698441
GRCh38:
Chr2:151841927
CACNB4Juvenile myoclonic epilepsy, Episodic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr2:152698480
GRCh38:
Chr2:151841966
CACNB4Juvenile myoclonic epilepsy, Episodic ataxia, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:152698521
GRCh38:
Chr2:151842007
CACNB4Idiopathic generalized epilepsyUncertain significance
(Jun 21, 2016)
criteria provided, single submitter
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