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

Download:

Choose Destination

Search results

Items: 1 to 100 of 1240

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:138593959
GRCh38:
Chr9:135702113
KCNT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000677573
2.
GRCh37:
Chr9:138594065
GRCh38:
Chr9:135702219
KCNT1not providedLikely benign
(May 14, 2018)
criteria provided, single submitterVCV000668309
3.
GRCh37:
Chr9:138594067
GRCh38:
Chr9:135702221
KCNT1not specifiedLikely benign
(Feb 18, 2016)
criteria provided, single submitterVCV000383618
4.
GRCh37:
Chr9:138594078
GRCh38:
Chr9:135702232
KCNT1not specifiedLikely benign
(Jul 21, 2016)
criteria provided, single submitterVCV000387653
5.
GRCh37:
Chr9:138594085-138606586
GRCh38:
Chr9:135702239-135714740
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Dec 20, 2019)
criteria provided, single submitterVCV000662288
6.
GRCh37:
Chr9:138594089
GRCh38:
Chr9:135702243
KCNT1not specifiedLikely benign
(Nov 27, 2017)
criteria provided, single submitterVCV000508672
7.
GRCh37:
Chr9:138594104
GRCh38:
Chr9:135702258
KCNT1not provided, SeizuresBenign
(Oct 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000388332
8.
GRCh37:
Chr9:138594108
GRCh38:
Chr9:135702262
KCNT1P2SEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Nov 6, 2019)
criteria provided, single submitterVCV000964279
9.
GRCh37:
Chr9:138594114
GRCh38:
Chr9:135702268
KCNT1P4SEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Jun 14, 2018)
criteria provided, single submitterVCV000583110
10.
GRCh37:
Chr9:138594115
GRCh38:
Chr9:135702269
KCNT1P4REpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Mar 23, 2020)
criteria provided, single submitterVCV001046530
11.
GRCh37:
Chr9:138594120
GRCh38:
Chr9:135702274
KCNT1G6REpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Sep 1, 2020)
criteria provided, single submitterVCV001132077
12.
GRCh37:
Chr9:138594120
GRCh38:
Chr9:135702274
KCNT1G6REpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Mar 7, 2020)
criteria provided, single submitterVCV000842108
13.
GRCh37:
Chr9:138594124
GRCh38:
Chr9:135702278
KCNT1A7fsEarly infantile epileptic encephalopathy 14Likely pathogenic
(Oct 2, 2021)
criteria provided, single submitterVCV001320234
14.
GRCh37:
Chr9:138594133-138594134
GRCh38:
Chr9:135702287-135702288
KCNT1V13fsEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV001045803
15.
GRCh37:
Chr9:138594134
GRCh38:
Chr9:135702288
KCNT1Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not specified,
Seizures
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000193440
16.
GRCh37:
Chr9:138594135
GRCh38:
Chr9:135702289
KCNT1G11REpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Mar 23, 2020)
criteria provided, single submitterVCV001020320
17.
GRCh37:
Chr9:138594136
GRCh38:
Chr9:135702290
KCNT1G11Enot provided, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5
Likely benign
(Jun 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000578357
18.
GRCh37:
Chr9:138594138
GRCh38:
Chr9:135702292
KCNT1G12SEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Mar 22, 2019)
criteria provided, single submitterVCV000836634
19.
GRCh37:
Chr9:138594140
GRCh38:
Chr9:135702294
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Mar 7, 2020)
criteria provided, single submitterVCV001093719
20.
GRCh37:
Chr9:138594142
GRCh38:
Chr9:135702296
KCNT1V13AEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Jan 24, 2020)
criteria provided, single submitterVCV000540575
21.
GRCh37:
Chr9:138594145
GRCh38:
Chr9:135702299
KCNT1C14Snot providedUncertain significance
(Apr 11, 2019)
criteria provided, single submitterVCV001305092
22.
GRCh37:
Chr9:138594150
GRCh38:
Chr9:135702304
KCNT1E16QEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Jul 7, 2020)
criteria provided, single submitterVCV000840170
23.
GRCh37:
Chr9:138594151
GRCh38:
Chr9:135702305
KCNT1E16VEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Aug 13, 2019)
criteria provided, single submitterVCV000412307
24.
GRCh37:
Chr9:138594154
GRCh38:
Chr9:135702308
KCNT1A17VEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Mar 1, 2019)
criteria provided, single submitterVCV000412316
25.
GRCh37:
Chr9:138594156
GRCh38:
Chr9:135702310
KCNT1R18CEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Apr 19, 2020)
criteria provided, single submitterVCV001060591
26.
GRCh37:
Chr9:138594157
GRCh38:
Chr9:135702311
KCNT1R18HEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Apr 27, 2020)
criteria provided, single submitterVCV001123941
27.
GRCh37:
Chr9:138594157
GRCh38:
Chr9:135702311
KCNT1R18LEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV000964549
28.
GRCh37:
Chr9:138594158
GRCh38:
Chr9:135702312
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Mar 5, 2020)
criteria provided, single submitterVCV000733208
29.
GRCh37:
Chr9:138594159
GRCh38:
Chr9:135702313
KCNT1G19SEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Jul 24, 2019)
criteria provided, single submitterVCV000833651
30.
GRCh37:
Chr9:138594161
GRCh38:
Chr9:135702315
KCNT1Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(May 18, 2018)
criteria provided, single submitterVCV000583079
31.
GRCh37:
Chr9:138594163
GRCh38:
Chr9:135702317
KCNT1G20Anot specified, not provided, Early infantile epileptic encephalopathy 14,
Epilepsy, nocturnal frontal lobe, 5, Seizures
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000129366
32.
GRCh37:
Chr9:138594164
GRCh38:
Chr9:135702318
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14, not provided
Likely benign
(Jul 26, 2018)
criteria provided, single submitterVCV000698057
33.
GRCh37:
Chr9:138594166
GRCh38:
Chr9:135702320
KCNT1G21VEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Mar 6, 2020)
criteria provided, single submitterVCV000665175
34.
GRCh37:
Chr9:138594166
GRCh38:
Chr9:135702320
KCNT1G21DEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Oct 12, 2017)
criteria provided, single submitterVCV000540584
35.
GRCh37:
Chr9:138594169
GRCh38:
Chr9:135702323
KCNT1Y22CEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Oct 22, 2018)
criteria provided, single submitterVCV000640758
36.
GRCh37:
Chr9:138594177
GRCh38:
Chr9:135702331
KCNT1R25WEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely pathogenic
(Oct 27, 2020)
criteria provided, single submitterVCV000937909
37.
GRCh37:
Chr9:138594178
GRCh38:
Chr9:135702332
KCNT1R25PEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Benign
(Nov 23, 2020)
criteria provided, single submitterVCV000833856
38.
GRCh37:
Chr9:138594181
GRCh38:
Chr9:135702335
KCNT1T26Inot providedLikely benign
(Apr 27, 2021)
criteria provided, single submitterVCV001212415
39.
GRCh37:
Chr9:138594185
GRCh38:
Chr9:135702339
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Oct 28, 2020)
criteria provided, single submitterVCV001083161
40.
GRCh37:
Chr9:138594186-138594189
GRCh38:
Chr9:135702340-135702343
KCNT1Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Oct 3, 2017)
criteria provided, single submitterVCV000540574
41.
GRCh37:
Chr9:138594189
GRCh38:
Chr9:135702343
KCNT1F29LEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Oct 3, 2017)
criteria provided, single submitterVCV000540597
42.
GRCh37:
Chr9:138594194
GRCh38:
Chr9:135702348
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Jul 26, 2019)
criteria provided, single submitterVCV001108257
43.
GRCh37:
Chr9:138594195
GRCh38:
Chr9:135702349
KCNT1D31YEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Oct 8, 2020)
criteria provided, single submitterVCV001090607
44.
GRCh37:
Chr9:138594198
GRCh38:
Chr9:135702352
KCNT1G32CEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Likely benign
(Oct 18, 2017)
criteria provided, single submitterVCV000412312
45.
GRCh37:
Chr9:138594203
GRCh38:
Chr9:135702357
KCNT1not provided, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5,
not specified, Seizures
Conflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000193439
46.
GRCh37:
Chr9:138594208
GRCh38:
Chr9:135702362
KCNT1A35VEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not specified,
not provided
Conflicting interpretations of pathogenicity
(Aug 1, 2021)
criteria provided, conflicting interpretationsVCV000447645
47.
GRCh37:
Chr9:138594215
GRCh38:
Chr9:135702369
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Mar 22, 2019)
criteria provided, single submitterVCV000642324
48.
GRCh37:
Chr9:138594252
GRCh38:
Chr9:135702406
KCNT1not providedLikely benign
(Jul 8, 2018)
criteria provided, single submitterVCV001211730
49.
GRCh37:
Chr9:138594266-138594267
GRCh38:
Chr9:135702420-135702421
KCNT1not providedBenign
(Jul 9, 2018)
criteria provided, single submitterVCV001242621
50.
GRCh37:
Chr9:138594291
GRCh38:
Chr9:135702445
KCNT1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001191227
51.
GRCh37:
Chr9:138594368
GRCh38:
Chr9:135702522
KCNT1not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000677658
52.
GRCh37:
Chr9:138594436
GRCh38:
Chr9:135702590
KCNT1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001181049
53.
GRCh37:
Chr9:138606160
GRCh38:
Chr9:135714314
KCNT1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001266360
54.
GRCh37:
Chr9:138606327
GRCh38:
Chr9:135714481
KCNT1not providedLikely benign
(Jul 17, 2019)
criteria provided, single submitterVCV001215153
55.
GRCh37:
Chr9:138606415
GRCh38:
Chr9:135714569
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Mar 4, 2020)
criteria provided, single submitterVCV001110892
56.
GRCh37:
Chr9:138606415
GRCh38:
Chr9:135714569
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Jul 10, 2020)
criteria provided, single submitterVCV001077824
57.
GRCh37:
Chr9:138606415
GRCh38:
Chr9:135714569
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000742109
58.
GRCh37:
Chr9:138606421
GRCh38:
Chr9:135714575
KCNT1Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Dec 4, 2019)
criteria provided, single submitterVCV000930854
59.
GRCh37:
Chr9:138606424
GRCh38:
Chr9:135714578
KCNT1R38GEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Oct 30, 2018)
criteria provided, single submitterVCV000665465
60.
GRCh37:
Chr9:138606428
GRCh38:
Chr9:135714582
KCNT1P39Lnot specified, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5,
Seizures
Benign
(Dec 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000129351
61.
GRCh37:
Chr9:138606435
GRCh38:
Chr9:135714589
KCNT1not providedLikely benign
(May 2, 2018)
criteria provided, single submitterVCV000682464
62.
GRCh37:
Chr9:138606438
GRCh38:
Chr9:135714592
KCNT1not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitterVCV000761959
63.
GRCh37:
Chr9:138606442
GRCh38:
Chr9:135714596
KCNT1G44Cnot provided, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5
Likely benign
(Jan 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000473358
64.
GRCh37:
Chr9:138606447
GRCh38:
Chr9:135714601
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Jul 14, 2019)
criteria provided, single submitterVCV001129181
65.
GRCh37:
Chr9:138606447
GRCh38:
Chr9:135714601
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Sep 2, 2020)
criteria provided, single submitterVCV001121970
66.
GRCh37:
Chr9:138606448
GRCh38:
Chr9:135714602
KCNT1L46FEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14
Conflicting interpretations of pathogenicity
(Jun 1, 2018)
criteria provided, conflicting interpretationsVCV000224110
67.
GRCh37:
Chr9:138606455
GRCh38:
Chr9:135714609
KCNT1D48VEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Oct 3, 2019)
criteria provided, single submitterVCV000863745
68.
GRCh37:
Chr9:138606458
GRCh38:
Chr9:135714612
KCNT1T49SEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not specified
Likely benign
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000386452
69.
GRCh37:
Chr9:138606462
GRCh38:
Chr9:135714616
KCNT1not specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitterVCV000384648
70.
GRCh37:
Chr9:138606463
GRCh38:
Chr9:135714617
KCNT1G51REarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not specified
Likely benign
(Nov 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000517706
71.
GRCh37:
Chr9:138606464
GRCh38:
Chr9:135714618
KCNT1G51AEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Sep 15, 2017)
criteria provided, single submitterVCV000540566
72.
GRCh37:
Chr9:138606474
GRCh38:
Chr9:135714628
KCNT1M54Inot providedUncertain significance
(Jan 16, 2020)
criteria provided, single submitterVCV001311119
73.
GRCh37:
Chr9:138606485
GRCh38:
Chr9:135714639
KCNT1D58Gnot providedConflicting interpretations of pathogenicity
(Sep 18, 2019)
criteria provided, conflicting interpretationsVCV000723392
74.
GRCh37:
Chr9:138606503
GRCh38:
Chr9:135714657
KCNT1L64WEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Feb 10, 2018)
criteria provided, single submitterVCV000565633
75.
GRCh37:
Chr9:138606504-138607414
GRCh38:
Chr9:135714658-135715568
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Jul 15, 2019)
criteria provided, single submitterVCV000845198
76.
GRCh37:
Chr9:138606511
GRCh38:
Chr9:135714665
KCNT1R67CEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Nov 10, 2016)
criteria provided, single submitterVCV000412319
77.
GRCh37:
Chr9:138606523
GRCh38:
Chr9:135714677
KCNT1R71WEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000647099
78.
GRCh37:
Chr9:138606530
GRCh38:
Chr9:135714684
KCNT1L73PEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not provided,
Seizures
Uncertain significance
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000449770
79.
GRCh37:
Chr9:138606531
GRCh38:
Chr9:135714685
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Feb 22, 2020)
criteria provided, single submitterVCV001099336
80.
GRCh37:
Chr9:138606534
GRCh38:
Chr9:135714688
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(May 25, 2020)
criteria provided, single submitterVCV001155263
81.
GRCh37:
Chr9:138606543
GRCh38:
Chr9:135714697
KCNT1not provided, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5
Likely benign
(Nov 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000473372
82.
GRCh37:
Chr9:138606549
GRCh38:
Chr9:135714703
KCNT1Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not specified
Likely benign
(Feb 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000386190
83.
GRCh37:
Chr9:138606552
GRCh38:
Chr9:135714706
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000696658
84.
GRCh37:
Chr9:138606552
GRCh38:
Chr9:135714706
KCNT1F80LEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Sep 16, 2017)
criteria provided, single submitterVCV000540579
85.
GRCh37:
Chr9:138606559
GRCh38:
Chr9:135714713
KCNT1D83HEarly infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5Uncertain significance
(Aug 20, 2018)
criteria provided, single submitterVCV000640345
86.
GRCh37:
Chr9:138606576
GRCh38:
Chr9:135714730
KCNT1not providedUncertain significance
(May 27, 2015)
criteria provided, single submitterVCV000195366
87.
GRCh37:
Chr9:138606581-138606582
GRCh38:
Chr9:135714735-135714736
KCNT1Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not provided,
not specified, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5
Benign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflictsVCV000261362
88.
GRCh37:
Chr9:138606586
GRCh38:
Chr9:135714740
KCNT1not specifiedLikely benign
(Nov 16, 2016)
criteria provided, single submitterVCV000497037
89.
GRCh37:
Chr9:138606586
GRCh38:
Chr9:135714740
KCNT1not specified, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5,
Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5
Benign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflictsVCV000286134
90.
GRCh37:
Chr9:138606607
GRCh38:
Chr9:135714761
KCNT1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001191469
91.
GRCh37:
Chr9:138606631
GRCh38:
Chr9:135714785
KCNT1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001195660
92.
GRCh37:
Chr9:138641649
GRCh38:
Chr9:135749803
KCNT1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000668722
93.
GRCh37:
Chr9:138641650
GRCh38:
Chr9:135749804
KCNT1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000683562
94.
GRCh37:
Chr9:138641661
GRCh38:
Chr9:135749815
KCNT1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001202460
95.
GRCh37:
Chr9:138641704
GRCh38:
Chr9:135749858
KCNT1not providedLikely benign
(Jun 29, 2018)
criteria provided, single submitterVCV001193588
96.
GRCh37:
Chr9:138641780
GRCh38:
Chr9:135749934
KCNT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000682091
97.
GRCh37:
Chr9:138641928-138641929
GRCh38:
Chr9:135750082-135750083
KCNT1not specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitterVCV000517698
98.
GRCh37:
Chr9:138641940
GRCh38:
Chr9:135750094
KCNT1Epilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Likely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001144678
99.
GRCh37:
Chr9:138641950
GRCh38:
Chr9:135750104
KCNT1not specifiedLikely benign
(Aug 19, 2016)
criteria provided, single submitterVCV000388670
100.
GRCh37:
Chr9:138641961
GRCh38:
Chr9:135750115
KCNT1Y43C, Y91CEpilepsy, nocturnal frontal lobe, 5, Early infantile epileptic encephalopathy 14Uncertain significance
(Aug 29, 2020)
criteria provided, single submitterVCV001000213
Format
Items per page
Sort by

Download:

Choose Destination
Support Center