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Items: 39

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:18429624
GRCh38:
Chr10:18140695
CACNB2not specifiedGMAF:0.03020(A)Benign
(Jun 25, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr10:18429635
GRCh38:
Chr10:18140706
CACNB2not specifiedBenign
(Jul 15, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr10:18429636
GRCh38:
Chr10:18140707
CACNB2not specifiedGMAF:0.00020(A)Likely benign
(Oct 22, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr10:18429682
GRCh38:
Chr10:18140753
CACNB2not specifiedUncertain significance
(Jul 10, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr10:18429718
GRCh38:
Chr10:18140789
CACNB2not specifiedUncertain significance
(Oct 27, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr10:18429765
GRCh38:
Chr10:18140836
CACNB2not specifiedUncertain significance
(Oct 1, 2012)
criteria provided, single submitter
7.
GRCh37:
Chr10:18439808-18439809
GRCh38:
Chr10:18150879-18150880
CACNB2Cardiac arrhythmiaBenign
(Apr 16, 2012)
criteria provided, single submitter
8.
GRCh37:
Chr10:18439808
GRCh38:
Chr10:18150879
CACNB2not specifiedBenign
(Jan 13, 2012)
criteria provided, single submitter
9.
GRCh37:
Chr10:18439824
GRCh38:
Chr10:18150895
CACNB2Cardiac arrhythmiaUncertain significance
(Sep 9, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr10:18439900
GRCh38:
Chr10:18150971
CACNB2not specified, not providedGMAF:0.00060(A)Conflicting interpretations of pathogenicity
(Oct 28, 2015)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr10:18550236
GRCh38:
Chr10:18261307
CACNB2not specifiedLikely benign
(Jun 4, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr10:18550254
GRCh38:
Chr10:18261325
CACNB2not specifiedGMAF:0.00460(G)Benign
(May 8, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr10:18789874
GRCh38:
Chr10:18500945
CACNB2Brugada syndrome 4, Brugada syndrome, not specified,
not provided
GMAF:0.00040(T)Conflicting interpretations of pathogenicity
(Oct 16, 2015)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr10:18795447
GRCh38:
Chr10:18506518
CACNB2Brugada syndrome 4, Early repolarization associated with ventricular fibrillation, not specified,
not provided
GMAF:0.00180(C)Conflicting interpretations of pathogenicity
(Oct 29, 2015)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr10:18795471
GRCh38:
Chr10:18506542
CACNB2not specifiedUncertain significance
(Jun 12, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr10:18803963
GRCh38:
Chr10:18515034
CACNB2, NSUN6not specifiedUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr10:18807868
GRCh38:
Chr10:18518939
CACNB2, NSUN6not specifiedGMAF:0.00360(C)Benign
(Oct 7, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr10:18823073
GRCh38:
Chr10:18534144
CACNB2, NSUN6not specifiedUncertain significance
(Nov 12, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr10:18823160-18823163
GRCh38:
Chr10:18534231-18534234
CACNB2, NSUN6Cardiac arrhythmia, Long QT syndrome, not provided
Conflicting interpretations of pathogenicity
(Feb 26, 2015)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr10:18827117
GRCh38:
Chr10:18538188
CACNB2, NSUN6not providedGMAF:0.00020(T)Likely pathogenic
(May 23, 2012)
criteria provided, single submitter
21.
GRCh37:
Chr10:18828169
GRCh38:
Chr10:18539240
CACNB2, NSUN6not specifiedUncertain significance
(Mar 26, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr10:18828181
GRCh38:
Chr10:18539252
CACNB2, NSUN6Brugada syndrome 4, Cardiac arrhythmia, Brugada syndrome,
not provided
GMAF:0.00040(T)Conflicting interpretations of pathogenicity
(Feb 5, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr10:18828188
GRCh38:
Chr10:18539259
CACNB2, NSUN6Brugada syndrome 4, not specifiedGMAF:0.00960(T)Benign
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:18828192
GRCh38:
Chr10:18539263
CACNB2, NSUN6not specifiedUncertain significance
(Feb 21, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr10:18828223
GRCh38:
Chr10:18539294
CACNB2, NSUN6not specifiedGMAF:0.00060(C)Uncertain significance
(Jul 20, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr10:18828230
GRCh38:
Chr10:18539301
CACNB2, NSUN6not specifiedGMAF:0.00100(C)Benign
(Mar 29, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr10:18828262
GRCh38:
Chr10:18539333
CACNB2, NSUN6not providedGMAF:0.00040(A)Likely pathogenic
(Mar 26, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr10:18828312
GRCh38:
Chr10:18539383
CACNB2, NSUN6not provided, Cardiac arrestConflicting interpretations of pathogenicity
(Sep 18, 2014)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr10:18828340
GRCh38:
Chr10:18539411
CACNB2, NSUN6not specifiedGMAF:0.00140(T)Uncertain significance
(May 17, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr10:18828366
GRCh38:
Chr10:18539437
CACNB2, NSUN6not specified, not providedGMAF:0.00100(A)Uncertain significance
(Jun 13, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:18828372
GRCh38:
Chr10:18539443
CACNB2, NSUN6not specifiedUncertain significance
(May 4, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr10:18828446
GRCh38:
Chr10:18539517
CACNB2, NSUN6Brugada syndrome 4, Brugada syndrome, not specified,
not provided
GMAF:0.00020(G)Conflicting interpretations of pathogenicity
(Nov 21, 2015)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr10:18828455
GRCh38:
Chr10:18539526
CACNB2, NSUN6Brugada syndrome 4, not specifiedGMAF:0.00780(T)Benign
(Mar 3, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:18828486
GRCh38:
Chr10:18539557
CACNB2, NSUN6not specified, not providedGMAF:0.00440(G)Uncertain significance
(May 9, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:18828511
GRCh38:
Chr10:18539582
CACNB2, NSUN6not specifiedUncertain significance
(Nov 18, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr10:18828591
GRCh38:
Chr10:18539662
CACNB2, NSUN6not specifiedUncertain significance
(Jun 27, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr10:18828635
GRCh38:
Chr10:18539706
CACNB2, NSUN6not specifiedGMAF:0.09700(G)Benign
(Mar 11, 2015)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr10:18828645
GRCh38:
Chr10:18539716
CACNB2, NSUN6Cardiac arrhythmiaGMAF:0.00100(T)Likely benign
(Apr 10, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr10:18794238-18834881
CACNB2, NSUN6See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
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