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Items: 33

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:146056314
GRCh38:
Chr6:145735178
EPM2A, LOC100507557not specifiedLikely benign
(Feb 11, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr6:146056329
GRCh38:
Chr6:145735193
EPM2A, LOC100507557not specifiedLikely benign
(Apr 19, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr6:146056330
GRCh38:
Chr6:145735194
EPM2A, LOC100507557not specifiedLikely benign
(Jul 11, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr6:146056394
GRCh38:
Chr6:145735258
EPM2A, LOC100507557not specifiedUncertain significance
(Dec 31, 2012)
criteria provided, single submitter
5.
GRCh37:
Chr6:146056400
GRCh38:
Chr6:145735264
EPM2A, LOC100507557not specifiedUncertain significance
(May 16, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr6:146056426
GRCh38:
Chr6:145735290
EPM2A, LOC100507557not specifiedUncertain significance
(Jul 1, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr6:146056427
GRCh38:
Chr6:145735291
EPM2A, LOC100507557Progressive myoclonic epilepsy, not specifiedUncertain significance
(Oct 27, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr6:146056442
GRCh38:
Chr6:145735306
EPM2A, LOC100507557not specifiedUncertain significance
(May 2, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr6:146056464
GRCh38:
Chr6:145735328
EPM2A, LOC100507557not specifiedBenign
(Apr 17, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr6:146056469
GRCh38:
Chr6:145735333
EPM2A, LOC100507557not providedPathogenic
(Jul 1, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr6:146056472
GRCh38:
Chr6:145735336
EPM2A, LOC100507557not providedPathogenic
(Jun 29, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr6:146056472
GRCh38:
Chr6:145735336
EPM2A, LOC100507557Lafora disease, Progressive myoclonic epilepsy, not specified
Conflicting interpretations of pathogenicity
(Aug 14, 2017)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr6:146056476-146056478
GRCh38:
Chr6:145735340-145735342
EPM2A, LOC100507557not specifiedUncertain significance
(May 16, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr6:146056478
GRCh38:
Chr6:145735342
EPM2A, LOC100507557not specifiedUncertain significance
(Nov 5, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr6:146056483
GRCh38:
Chr6:145735347
EPM2A, LOC100507557not specifiedUncertain significance
(Jan 23, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr6:146056486
GRCh38:
Chr6:145735350
EPM2A, LOC100507557not specifiedUncertain significance
(Mar 15, 2013)
criteria provided, single submitter
17.
GRCh37:
Chr6:146056487
GRCh38:
Chr6:145735351
EPM2A, LOC100507557not specified, not providedUncertain significance
(May 12, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:146056492
GRCh38:
Chr6:145735356
EPM2A, LOC100507557Progressive myoclonic epilepsy, not specifiedUncertain significance
(May 24, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr6:146056499
GRCh38:
Chr6:145735363
EPM2A, LOC100507557Progressive myoclonic epilepsy, not specifiedUncertain significance
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:146056499
GRCh38:
Chr6:145735363
EPM2A, LOC100507557Lafora disease, Progressive myoclonic epilepsy, not specified
Benign
(Jul 5, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr6:146056506
GRCh38:
Chr6:145735370
EPM2A, LOC100507557Progressive myoclonic epilepsy, not specifiedConflicting interpretations of pathogenicity
(Mar 3, 2017)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr6:146056535
GRCh38:
Chr6:145735399
EPM2A, LOC100507557not specifiedUncertain significance
(Sep 23, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr6:146056541
GRCh38:
Chr6:145735405
EPM2A, LOC100507557Lafora disease, not providedPathogenic/Likely pathogenic
(Oct 1, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr6:146056547
GRCh38:
Chr6:145735411
EPM2A, LOC100507557not providedLikely pathogenic
(Mar 31, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr6:146056558
GRCh38:
Chr6:145735422
EPM2A, LOC100507557Progressive myoclonic epilepsy, not specifiedUncertain significance
(Feb 24, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:146056569
GRCh38:
Chr6:145735433
EPM2A, LOC100507557not specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr6:146056591
GRCh38:
Chr6:145735455
EPM2A, LOC100507557not specifiedUncertain significance
(Oct 18, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr6:146056611
GRCh38:
Chr6:145735475
EPM2A, LOC100507557Progressive myoclonic epilepsy, not specifiedConflicting interpretations of pathogenicity
(Aug 11, 2017)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr6:146056631
GRCh38:
Chr6:145735495
EPM2A, LOC100507557not specifiedUncertain significance
(Sep 18, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr6:146056637
GRCh38:
Chr6:145735501
EPM2A, LOC100507557not specifiedLikely benign
(May 31, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr6:146056649
GRCh38:
Chr6:145735513
EPM2A, LOC100507557not specifiedBenign
(May 26, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:146056661
GRCh38:
Chr6:145735525
EPM2A, LOC100507557not specifiedLikely benign
(Dec 22, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr6:146056675
GRCh38:
Chr6:145735539
EPM2A, LOC100507557not specifiedLikely benign
(Jun 21, 2016)
criteria provided, single submitter
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