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Items: 1 to 100 of 229

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:161277807
GRCh38:
Chr5:161850801
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352595
2.
GRCh37:
Chr5:161274210
GRCh38:
Chr5:161847204
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352579
3.
GRCh37:
Chr5:161274216
GRCh38:
Chr5:161847210
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352581
4.
GRCh37:
Chr5:161274217
GRCh38:
Chr5:161847211
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352583
5.
GRCh37:
Chr5:161274217
GRCh38:
Chr5:161847211
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352582
6.
GRCh37:
Chr5:161274223
GRCh38:
Chr5:161847217
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352580
7.
GRCh37:
Chr5:161274224
GRCh38:
Chr5:161847218
GABRA1Juvenile myoclonic epilepsyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352585
8.
GRCh37:
Chr5:161274226
GRCh38:
Chr5:161847220
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352586
9.
GRCh37:
Chr5:161274227
GRCh38:
Chr5:161847221
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352584
10.
GRCh37:
Chr5:161274260
GRCh38:
Chr5:161847254
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352587
11.
GRCh37:
Chr5:161274425
GRCh38:
Chr5:161847419
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352588
12.
GRCh37:
Chr5:161274427
GRCh38:
Chr5:161847421
GABRA1not specifiedLikely benign
(Jan 19, 2017)
criteria provided, single submitterVCV000506912
13.
GRCh37:
Chr5:161275181
GRCh38:
Chr5:161848175
GABRA1not specifiedLikely benign
(Nov 7, 2017)
criteria provided, single submitterVCV000516090
14.
GRCh37:
Chr5:161275186
GRCh38:
Chr5:161848180
GABRA1not specifiedLikely benign
(Feb 16, 2018)
criteria provided, single submitterVCV000516091
15.
GRCh37:
Chr5:161275187
GRCh38:
Chr5:161848181
GABRA1not specifiedBenign
(Feb 1, 2013)
criteria provided, single submitterVCV000137406
16.
GRCh37:
Chr5:161275192
GRCh38:
Chr5:161848186
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352589
17.
GRCh37:
Chr5:161275197
GRCh38:
Chr5:161848191
GABRA1not specifiedLikely benign
(May 23, 2016)
criteria provided, single submitterVCV000386238
18.
GRCh37:
Chr5:161275201
GRCh38:
Chr5:161848195
GABRA1not specifiedLikely benign
(Mar 24, 2017)
criteria provided, single submitterVCV000508427
19.
GRCh37:
Chr5:161275203
GRCh38:
Chr5:161848197
GABRA1not specifiedLikely benign
(Sep 19, 2017)
criteria provided, single submitterVCV000512177
20.
GRCh37:
Chr5:161275224
GRCh38:
Chr5:161848218
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352590
21.
GRCh37:
Chr5:161275249
GRCh38:
Chr5:161848243
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352591
22.
GRCh37:
Chr5:161275302
GRCh38:
Chr5:161848296
GABRA1Juvenile myoclonic epilepsyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352592
23.
GRCh37:
Chr5:161275333-161275338
GRCh38:
Chr5:161848327-161848332
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352593
24.
GRCh37:
Chr5:161275413
GRCh38:
Chr5:161848407
GABRA1Juvenile myoclonic epilepsyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352594
25.
GRCh37:
Chr5:161275420
GRCh38:
Chr5:161848414
GABRA1not specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitterVCV000377899
26.
GRCh37:
Chr5:161275425-161275426
GRCh38:
Chr5:161848419-161848420
GABRA1not specifiedLikely benign
(Apr 28, 2016)
criteria provided, single submitterVCV000420983
27.
GRCh37:
Chr5:161275425
GRCh38:
Chr5:161848419
GABRA1not specifiedLikely benign
(Feb 26, 2016)
criteria provided, single submitterVCV000384167
28.
GRCh37:
Chr5:161275436
GRCh38:
Chr5:161848430
GABRA1not specifiedBenign
(Oct 2, 2013)
criteria provided, single submitterVCV000137407
29.
GRCh37:
Chr5:161275443
GRCh38:
Chr5:161848437
GABRA1not providedLikely benign
(May 14, 2018)
criteria provided, single submitterVCV000668300
30.
GRCh37:
Chr5:161275446
GRCh38:
Chr5:161848440
GABRA1not specifiedLikely benign
(Nov 28, 2017)
criteria provided, single submitterVCV000516092
31.
GRCh37:
Chr5:161277777
GRCh38:
Chr5:161850771
GABRA1not specifiedLikely benign
(Nov 29, 2016)
criteria provided, single submitterVCV000377900
32.
GRCh37:
Chr5:161277779
GRCh38:
Chr5:161850773
GABRA1not specifiedLikely benign
(Feb 23, 2017)
criteria provided, single submitterVCV000507422
33.
GRCh37:
Chr5:161277782
GRCh38:
Chr5:161850776
GABRA1not specifiedBenign
(Apr 12, 2015)
criteria provided, single submitterVCV000377901
34.
GRCh37:
Chr5:161277793
GRCh38:
Chr5:161850787
GABRA1not providedLikely benign
(May 17, 2018)
criteria provided, single submitterVCV000668467
35.
GRCh37:
Chr5:161277813
GRCh38:
Chr5:161850807
GABRA1not specified, Juvenile myoclonic epilepsyConflicting interpretations of pathogenicity
(Jul 26, 2016)
criteria provided, conflicting interpretationsVCV000205513
36.
GRCh37:
Chr5:161277827
GRCh38:
Chr5:161850821
GABRA1S4Nnot specifiedLikely benign
(Oct 2, 2013)
criteria provided, single submitterVCV000205514
37.
GRCh37:
Chr5:161277843
GRCh38:
Chr5:161850837
GABRA1D9Enot specifiedLikely benign
(May 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000196289
38.
GRCh37:
Chr5:161277861
GRCh38:
Chr5:161850855
GABRA1not providedLikely benign
(May 2, 2018)
criteria provided, single submitterVCV000682491
39.
GRCh37:
Chr5:161277864
GRCh38:
Chr5:161850858
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Likely benign
(May 16, 2017)
criteria provided, single submitterVCV000468876
40.
GRCh37:
Chr5:161277875
GRCh38:
Chr5:161850869
GABRA1T20Inot providedUncertain significance
(May 31, 2018)
criteria provided, single submitterVCV000546090
41.
GRCh37:
Chr5:161277899
GRCh38:
Chr5:161850893
GABRA1Juvenile myoclonic epilepsy, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000129124
42.
GRCh37:
Chr5:161277909
GRCh38:
Chr5:161850903
GABRA1not specifiedLikely benign
(Jan 2, 2018)
criteria provided, single submitterVCV000385750
43.
GRCh37:
Chr5:161281160
GRCh38:
Chr5:161854154
GABRA1not providedUncertain significance
(Sep 23, 2016)
criteria provided, single submitterVCV000290995
44.
GRCh37:
Chr5:161281164
GRCh38:
Chr5:161854158
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Uncertain significance
(Jan 2, 2018)
criteria provided, single submitterVCV000579311
45.
GRCh37:
Chr5:161281167
GRCh38:
Chr5:161854161
GABRA1not specifiedLikely benign
(Oct 23, 2017)
criteria provided, single submitterVCV000377902
46.
GRCh37:
Chr5:161281169
GRCh38:
Chr5:161854163
GABRA1G27EEpilepsy, juvenile myoclonic 5, Epileptic encephalopathy, early infantile, 19Uncertain significance
(Jan 31, 2018)
criteria provided, single submitterVCV000626110
47.
GRCh37:
Chr5:161281174
GRCh38:
Chr5:161854168
GABRA1P29SEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4,
not specified, not provided
Uncertain significance
(Nov 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000197167
48.
GRCh37:
Chr5:161281175
GRCh38:
Chr5:161854169
GABRA1P29Lnot providedUncertain significance
(Aug 21, 2018)
criteria provided, multiple submitters, no conflictsVCV000205529
49.
GRCh37:
Chr5:161281176
GRCh38:
Chr5:161854170
GABRA1not specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitterVCV000381108
50.
GRCh37:
Chr5:161281183
GRCh38:
Chr5:161854177
GABRA1Q32KEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4,
Seizures
Uncertain significance
(Oct 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000536749
51.
GRCh37:
Chr5:161281183
GRCh38:
Chr5:161854177
GABRA1Q32*Epileptic encephalopathy, early infantile, 19, not providedConflicting interpretations of pathogenicity
(Dec 10, 2015)
criteria provided, conflicting interpretationsVCV000224145
52.
GRCh37:
Chr5:161281185
GRCh38:
Chr5:161854179
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4,
not specified, not provided, Seizures
Benign
(May 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000129125
53.
GRCh37:
Chr5:161281239
GRCh38:
Chr5:161854233
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Likely benign
(Jun 1, 2017)
criteria provided, single submitterVCV000468873
54.
GRCh37:
Chr5:161281245
GRCh38:
Chr5:161854239
GABRA1not provided, Seizures, not specified,
Juvenile myoclonic epilepsy
Benign/Likely benign
(May 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000129123
55.
GRCh37:
Chr5:161281265
GRCh38:
Chr5:161854259
GABRA1P59Lnot providedUncertain significance
(Nov 20, 2017)
criteria provided, single submitterVCV000423472
56.
GRCh37:
Chr5:161281276
GRCh38:
Chr5:161854270
GABRA1E63Knot specifiedUncertain significance
(Jul 27, 2016)
criteria provided, single submitterVCV000435273
57.
GRCh37:
Chr5:161281281
GRCh38:
Chr5:161854275
GABRA1not providedUncertain significance
(Sep 20, 2013)
criteria provided, single submitterVCV000205530
58.
GRCh37:
Chr5:161281292
GRCh38:
Chr5:161854286
GABRA1not specifiedLikely benign
(Mar 31, 2017)
criteria provided, single submitterVCV000508465
59.
GRCh37:
Chr5:161292685
GRCh38:
Chr5:161865679
GABRA1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000670652
60.
GRCh37:
Chr5:161292727
GRCh38:
Chr5:161865721
GABRA1E63Anot providedUncertain significance
(Nov 2, 2018)
criteria provided, single submitterVCV000452188
61.
GRCh37:
Chr5:161292737
GRCh38:
Chr5:161865731
GABRA1not specifiedLikely benign
(Jun 23, 2017)
criteria provided, single submitterVCV000518109
62.
GRCh37:
Chr5:161292755
GRCh38:
Chr5:161865749
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Likely benign
(May 24, 2017)
criteria provided, single submitterVCV000468874
63.
GRCh37:
Chr5:161292770
GRCh38:
Chr5:161865764
GABRA1SeizuresLikely benign
(May 19, 2017)
criteria provided, single submitterVCV000590144
64.
GRCh37:
Chr5:161292771
GRCh38:
Chr5:161865765
GABRA1G78RSensorineural hearing loss, Seizures, Intellectual disability
Uncertain significance
(Jan 9, 2019)
no assertion criteria providedVCV000625850
65.
GRCh37:
Chr5:161292806
GRCh38:
Chr5:161865800
GABRA1Juvenile myoclonic epilepsy, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000137408
66.
GRCh37:
Chr5:161292807
GRCh38:
Chr5:161865801
GABRA1not specifiedLikely benign
(Jan 22, 2018)
criteria provided, single submitterVCV000516093
67.
GRCh37:
Chr5:161293079
GRCh38:
Chr5:161866073
GABRA1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000668789
68.
GRCh37:
Chr5:161299902
GRCh38:
Chr5:161872896
GABRA1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670525
69.
GRCh37:
Chr5:161299922
GRCh38:
Chr5:161872916
GABRA1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000680273
70.
GRCh37:
Chr5:161300121
GRCh38:
Chr5:161873115
GABRA1not providedLikely pathogenic
(Dec 26, 2017)
criteria provided, single submitterVCV000422478
71.
GRCh37:
Chr5:161300128
GRCh38:
Chr5:161873122
GABRA1not specifiedLikely benign
(Oct 25, 2016)
criteria provided, single submitterVCV000390316
72.
GRCh37:
Chr5:161300135
GRCh38:
Chr5:161873129
GABRA1D90Hnot providedPathogenic
(Jun 13, 2013)
criteria provided, single submitterVCV000205517
73.
GRCh37:
Chr5:161300194
GRCh38:
Chr5:161873188
GABRA1SeizuresLikely benign
(Dec 13, 2016)
criteria provided, single submitterVCV000589982
74.
GRCh37:
Chr5:161300202
GRCh38:
Chr5:161873196
GABRA1R112QEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4,
Inborn genetic diseases, Epilepsy, juvenile myoclonic 5, Epileptic encephalopathy, early infantile, 19,
Epileptic encephalopathy, early infantile, 19, not provided, Seizures
Conflicting interpretations of pathogenicity
(Nov 25, 2018)
criteria provided, conflicting interpretationsVCV000127074
75.
GRCh37:
Chr5:161300206
GRCh38:
Chr5:161873200
GABRA1L113FSeizures, Inborn genetic diseasesUncertain significance
(Mar 14, 2017)
criteria provided, single submitterVCV000521611
76.
GRCh37:
Chr5:161300245
GRCh38:
Chr5:161873239
GABRA1not specifiedLikely benign
(Dec 1, 2016)
criteria provided, single submitterVCV000373654
77.
GRCh37:
Chr5:161300251
GRCh38:
Chr5:161873245
GABRA1SeizuresLikely benign
(Sep 2, 2016)
criteria provided, single submitterVCV000588228
78.
GRCh37:
Chr5:161300281
GRCh38:
Chr5:161873275
GABRA1not specifiedLikely benign
(Mar 29, 2016)
criteria provided, single submitterVCV000384936
79.
GRCh37:
Chr5:161300306
GRCh38:
Chr5:161873300
GABRA1R147Wnot providedLikely benign
(Aug 29, 2017)
criteria provided, single submitterVCV000445352
80.
GRCh37:
Chr5:161300308
GRCh38:
Chr5:161873302
GABRA1not provided, not specified, Seizures
Conflicting interpretations of pathogenicity
(Jan 31, 2017)
criteria provided, conflicting interpretationsVCV000137409
81.
GRCh37:
Chr5:161300309
GRCh38:
Chr5:161873303
GABRA1I148Fnot specifiedUncertain significance
(Mar 4, 2015)
criteria provided, single submitterVCV000211057
82.
GRCh37:
Chr5:161300320
GRCh38:
Chr5:161873314
GABRA1not specifiedLikely benign
(Sep 1, 2017)
criteria provided, single submitterVCV000511883
83.
GRCh37:
Chr5:161300362
GRCh38:
Chr5:161873356
GABRA1not specifiedLikely benign
(Jul 12, 2016)
criteria provided, single submitterVCV000387581
84.
GRCh37:
Chr5:161302552
GRCh38:
Chr5:161875546
GABRA1Juvenile myoclonic epilepsyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352596
85.
GRCh37:
Chr5:161302560
GRCh38:
Chr5:161875554
GABRA1not specifiedLikely benign
(May 20, 2016)
criteria provided, single submitterVCV000386240
86.
GRCh37:
Chr5:161302561
GRCh38:
Chr5:161875555
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Likely benign
(Nov 6, 2017)
criteria provided, single submitterVCV000536751
87.
GRCh37:
Chr5:161302567
GRCh38:
Chr5:161875561
GABRA1not specifiedLikely benign
(Jun 22, 2017)
criteria provided, single submitterVCV000518123
88.
GRCh37:
Chr5:161302573
GRCh38:
Chr5:161875567
GABRA1V162Mnot providedUncertain significance
(Jan 14, 2015)
criteria provided, single submitterVCV000205531
89.
GRCh37:
Chr5:161302574
GRCh38:
Chr5:161875568
GABRA1V162GEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Uncertain significance
(Feb 7, 2017)
criteria provided, single submitterVCV000468875
90.
GRCh37:
Chr5:161302587
GRCh38:
Chr5:161875581
GABRA1C166WEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Uncertain significance
(Feb 10, 2018)
criteria provided, single submitterVCV000581609
91.
GRCh37:
Chr5:161302590
GRCh38:
Chr5:161875584
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4,
not specified, not provided, Seizures
Conflicting interpretations of pathogenicity
(Sep 30, 2018)
criteria provided, conflicting interpretationsVCV000137410
92.
GRCh37:
Chr5:161302667
GRCh38:
Chr5:161875661
GABRA1not specifiedLikely benign
(Jan 18, 2017)
criteria provided, single submitterVCV000506910
93.
GRCh37:
Chr5:161302728
GRCh38:
Chr5:161875722
GABRA1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670653
94.
GRCh37:
Chr5:161309303
GRCh38:
Chr5:161882297
GABRA1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000668790
95.
GRCh37:
Chr5:161309544
GRCh38:
Chr5:161882538
GABRA1not providedUncertain significance
(Mar 20, 2017)
criteria provided, single submitterVCV000445414
96.
GRCh37:
Chr5:161309580
GRCh38:
Chr5:161882574
GABRA1Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Likely benign
(Aug 10, 2017)
criteria provided, single submitterVCV000468877
97.
GRCh37:
Chr5:161309616
GRCh38:
Chr5:161882610
GABRA1not provided, not specifiedConflicting interpretations of pathogenicity
(Jun 20, 2016)
criteria provided, conflicting interpretationsVCV000198751
98.
GRCh37:
Chr5:161309637
GRCh38:
Chr5:161882631
GABRA1not specifiedBenign
(May 23, 2013)
criteria provided, single submitterVCV000137411
99.
GRCh37:
Chr5:161309641
GRCh38:
Chr5:161882635
GABRA1S213TEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
Uncertain significance
(Aug 14, 2018)
criteria provided, single submitterVCV000661858
100.
GRCh37:
Chr5:161309644
GRCh38:
Chr5:161882638
GABRA1R214CEpilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy, Epilepsy, childhood absence 4,
not provided, Intractable seizure
Conflicting interpretations of pathogenicity
(Aug 22, 2018)
criteria provided, conflicting interpretationsVCV000265161
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