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Items: 23

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:154544158
GRCh38:
Chr1:154571682
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:154544158
GRCh38:
Chr1:154571682
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
3.
GRCh37:
Chr1:154544158
GRCh38:
Chr1:154571682
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
4.
GRCh37:
Chr1:154544200
GRCh38:
Chr1:154571724
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
5.
GRCh37:
Chr1:154544222
GRCh38:
Chr1:154571746
CHRNB2Epilepsy, nocturnal frontal lobe, type 3, not providedPathogenic
(Mar 12, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr1:154544235
GRCh38:
Chr1:154571759
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
7.
GRCh37:
Chr1:154544309
GRCh38:
Chr1:154571833
CHRNB2Epilepsy, nocturnal frontal lobe, type 3Pathogenic
(Sep 20, 2012)
no assertion criteria provided
8.
GRCh37:
Chr8:27321124
GRCh38:
Chr8:27463607
CHRNA2Epilepsy, nocturnal frontal lobe, type 4Pathogenic
(Sep 20, 2012)
no assertion criteria provided
9.
GRCh37:
Chr8:67089624
GRCh38:
Chr8:66177389
CRHAutosomal dominant nocturnal frontal lobe epilepsy, not providedConflicting interpretations of pathogenicity
(Feb 19, 2015)
no assertion criteria provided
10.
GRCh37:
Chr9:138657034
GRCh38:
Chr9:135765188
KCNT1Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not provided
Pathogenic
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:138669220
GRCh38:
Chr9:135777374
KCNT1Epilepsy, nocturnal frontal lobe, 5Pathogenic
(Feb 19, 2015)
no assertion criteria provided
12.
GRCh37:
Chr9:138670627
GRCh38:
Chr9:135778781
KCNT1Epilepsy, nocturnal frontal lobe, 5Pathogenic
(Feb 19, 2015)
no assertion criteria provided
13.
GRCh37:
Chr9:138671257
GRCh38:
Chr9:135779411
KCNT1Epilepsy, nocturnal frontal lobe, 5Pathogenic
(Feb 19, 2015)
no assertion criteria provided
14.
GRCh37:
Chr20:61981756
GRCh38:
Chr20:63350404
CHRNA4Epilepsy, nocturnal frontal lobe, type 1, Autosomal dominant nocturnal frontal lobe epilepsyConflicting interpretations of pathogenicity
(Jun 18, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr20:61981885
GRCh38:
Chr20:63350533
CHRNA4Epilepsy, nocturnal frontal lobe, type 1Pathogenic
(Sep 20, 2012)
no assertion criteria provided
16.
GRCh37:
Chr20:61981891-61981893
GRCh38:
Chr20:63350539-63350541
CHRNA4Epilepsy, nocturnal frontal lobe, type 1Pathogenic
(Sep 20, 2012)
no assertion criteria provided
17.
GRCh37:
Chr20:61981912
GRCh38:
Chr20:63350560
CHRNA4Epilepsy, nocturnal frontal lobe, type 1, not providedPathogenic
(Jun 11, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr20:61981924
GRCh38:
Chr20:63350572
CHRNA4Epilepsy, nocturnal frontal lobe, type 1, not providedPathogenic
(Sep 11, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr22:32210991
GRCh38:
Chr22:31815005
DEPDC5Epilepsy, familial focal, with variable foci 1Pathogenic
(Apr 13, 2016)
no assertion criteria provided
20.
GRCh37:
Chr22:32234669
GRCh38:
Chr22:31838683
DEPDC5Epilepsy, familial focal, with variable foci 1Pathogenic
(Apr 13, 2016)
no assertion criteria provided
21.
GRCh37:
Chr22:32253534
GRCh38:
Chr22:31857548
DEPDC5Epilepsy, familial focal, with variable foci 1Pathogenic
(Apr 13, 2016)
no assertion criteria provided
22.
GRCh37:
Chr22:32289641
GRCh38:
Chr22:31893655
DEPDC5Epilepsy, familial focal, with variable foci 1Pathogenic
(Feb 19, 2015)
no assertion criteria provided
23.
GRCh37:
Chr22:32302238
GRCh38:
Chr22:31906252
DEPDC5Epilepsy, familial focal, with variable foci 1Pathogenic
(Apr 13, 2016)
no assertion criteria provided
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