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Items: 1 to 100 of 341

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:237205772-237205774
GRCh38:
Chr1:237042472-237042474
RYR2not specifiedBenign
(Mar 25, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr1:237205840
GRCh38:
Chr1:237042540
RYR2not specifiedGO-ESP:0.00014(A)Uncertain significance
(Mar 25, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr1:237205853
GRCh38:
Chr1:237042553
RYR2not specifiedUncertain significance
(Oct 30, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr1:237205858
GRCh38:
Chr1:237042558
RYR2not provided, Cardiovascular phenotypeUncertain significance
(Jul 8, 2014)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:237433895
GRCh38:
Chr1:237270595
RYR2not specified, not providedUncertain significance
(Apr 20, 2013)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:237494193
GRCh38:
Chr1:237330893
RYR2not providedPathogenic
(Aug 15, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr1:237494227
GRCh38:
Chr1:237330927
RYR2not providedLikely pathogenic
(Aug 6, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr1:237494240
GRCh38:
Chr1:237330940
RYR2not specifiedGO-ESP:0.00048(A)
GMAF:0.00040(A)
GO-ESP:0.00025(A)
Benign/Likely benign
(Mar 23, 2015)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:237494248
GRCh38:
Chr1:237330948
RYR2not providedLikely pathogenic
(Apr 9, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr1:237527664
GRCh38:
Chr1:237364364
RYR2not specifiedUncertain significance
(Dec 28, 2012)
criteria provided, single submitter
11.
GRCh37:
Chr1:237527677
GRCh38:
Chr1:237364377
RYR2not specifiedLikely benign
(Oct 9, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr1:237527679
GRCh38:
Chr1:237364379
RYR2not specifiedGMAF:0.00180(T)Benign
(Jan 24, 2014)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:237532888
GRCh38:
Chr1:237369588
RYR2not specifiedUncertain significance
(Aug 20, 2014)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:237538003
GRCh38:
Chr1:237374703
RYR2not specifiedBenign/Likely benign
(Jul 22, 2014)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:237538090
GRCh38:
Chr1:237374790
RYR2not specifiedGO-ESP:0.00002(T)Uncertain significance
(Jun 22, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:237540615
GRCh38:
Chr1:237377315
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GO-ESP:0.30434(C)
GMAF:0.36280(C)
GO-ESP:0.30215(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:237540658
GRCh38:
Chr1:237377358
RYR2not providedLikely pathogenic
(Nov 20, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr1:237540665
GRCh38:
Chr1:237377365
RYR2not provided, Catecholaminergic polymorphic ventricular tachycardiaPathogenic/Likely pathogenic
(Dec 12, 2014)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:237540671-237540673
GRCh38:
Chr1:237377371-237377373
RYR2not providedLikely pathogenic
(Sep 7, 2012)
criteria provided, single submitter
20.
GRCh37:
Chr1:237540686
GRCh38:
Chr1:237377386
RYR2not providedLikely pathogenic
(Jun 21, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:237540686
GRCh38:
Chr1:237377386
RYR2Ventricular tachycardia, catecholaminergic polymorphic, 1, not providedPathogenic
(Apr 27, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:237540694
GRCh38:
Chr1:237377394
RYR2not providedLikely pathogenic
(Mar 28, 2012)
criteria provided, single submitter
23.
GRCh37:
Chr1:237540727
GRCh38:
Chr1:237377427
RYR2not providedPathogenic
(Jul 22, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr1:237540742
GRCh38:
Chr1:237377442
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GO-ESP:0.00672(C)
GMAF:0.00720(C)
GO-ESP:0.00200(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:237550653
GRCh38:
Chr1:237387353
RYR2not specified, not provided, Catecholaminergic polymorphic ventricular tachycardia
GO-ESP:0.00014(G)Conflicting interpretations of pathogenicity
(Jul 5, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:237551386
GRCh38:
Chr1:237388086
RYR2not specifiedLikely benign
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr1:237551399
GRCh38:
Chr1:237388099
RYR2not providedPathogenic
(Oct 11, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr1:237551414
GRCh38:
Chr1:237388114
RYR2not providedLikely pathogenic
(Jul 5, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr1:237551429
GRCh38:
Chr1:237388129
RYR2not providedLikely pathogenic
(Jun 17, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr1:237551436
GRCh38:
Chr1:237388136
RYR2not specifiedGMAF:0.00120(T)
GO-ESP:0.00033(T)
Benign
(Apr 13, 2015)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:237551437
GRCh38:
Chr1:237388137
RYR2not specifiedUncertain significance
(Sep 22, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:237580371
GRCh38:
Chr1:237417071
RYR2not specifiedGO-ESP:0.00002(A)Uncertain significance
(Oct 7, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr1:237580387
GRCh38:
Chr1:237417087
RYR2not specifiedUncertain significance
(Aug 15, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr1:237580393
GRCh38:
Chr1:237417093
RYR2not providedLikely pathogenic
(Aug 2, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr1:237580414
GRCh38:
Chr1:237417114
RYR2not specifiedUncertain significance
(Dec 13, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr1:237580424
GRCh38:
Chr1:237417124
RYR2not specifiedGO-ESP:0.00002(A)Uncertain significance
(May 7, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr1:237580425
GRCh38:
Chr1:237417125
RYR2not providedUncertain significance
(Aug 27, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr1:237586436
GRCh38:
Chr1:237423136
RYR2not specifiedGO-ESP:0.00001(A)Uncertain significance
(Dec 7, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr1:237586506
GRCh38:
Chr1:237423206
RYR2not specifiedUncertain significance
(May 2, 2014)
criteria provided, single submitter
40.
GRCh37:
Chr1:237604666
GRCh38:
Chr1:237441366
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GMAF:0.00200(G)
GO-ESP:0.00130(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:237604679
GRCh38:
Chr1:237441379
RYR2not providedLikely pathogenic
(Aug 20, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr1:237604748
GRCh38:
Chr1:237441448
RYR2not specified, Cardiovascular phenotypeGMAF:0.00040(A)
GO-ESP:0.00026(A)
Conflicting interpretations of pathogenicity
(Dec 23, 2015)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr1:237604756
GRCh38:
Chr1:237441456
RYR2not specified, Cardiovascular phenotypeGO-ESP:0.00067(T)
GMAF:0.00060(T)
GO-ESP:0.00027(T)
Benign/Likely benign
(Dec 23, 2015)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:237604757
GRCh38:
Chr1:237441457
RYR2Ventricular tachycardia, catecholaminergic polymorphic, 1, not specifiedGMAF:0.00020(A)
GO-ESP:0.00009(A)
Uncertain significance
(Jun 17, 2015)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:237608702
GRCh38:
Chr1:237445402
RYR2not specifiedGO-ESP:0.00001(G)Uncertain significance
(Oct 10, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr1:237608708
GRCh38:
Chr1:237445408
RYR2not specifiedUncertain significance
(Sep 3, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr1:237608748
GRCh38:
Chr1:237445448
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GMAF:0.00140(A)
GO-ESP:0.00071(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:237608750
GRCh38:
Chr1:237445450
RYR2not specifiedUncertain significance
(Jul 26, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:237608770
GRCh38:
Chr1:237445470
RYR2not specified, Cardiovascular phenotypeGO-ESP:0.00001(T)Uncertain significance
(Dec 31, 2015)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:237608780
GRCh38:
Chr1:237445480
RYR2not providedLikely pathogenic
(Jun 4, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr1:237608788
GRCh38:
Chr1:237445488
RYR2not provided, Ventricular fibrillation, Catecholaminergic polymorphic ventricular tachycardia
GMAF:0.00020(T)
GO-ESP:0.00002(T)
Pathogenic
(Sep 2, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:237608789
GRCh38:
Chr1:237445489
RYR2Long QT syndrome, not providedConflicting interpretations of pathogenicity
(Oct 10, 2016)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr1:237608842
GRCh38:
Chr1:237445542
RYR2not specifiedGMAF:0.00660(T)
GO-ESP:0.00833(T)
Benign
(Apr 3, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:237617694
GRCh38:
Chr1:237454394
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardiaGMAF:0.00040(A)
GO-ESP:0.00030(A)
Benign
(Nov 25, 2015)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:237617717
GRCh38:
Chr1:237454417
RYR2not specifiedGO-ESP:0.00002(T)Uncertain significance
(Nov 16, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr1:237617740
GRCh38:
Chr1:237454440
RYR2not specifiedGO-ESP:0.00001(G)Uncertain significance
(Jul 17, 2014)
criteria provided, single submitter
57.
GRCh37:
Chr1:237617852
GRCh38:
Chr1:237454552
RYR2not specified, Ventricular tachycardiaGO-ESP:0.00009(A)Uncertain significance
(Nov 20, 2015)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:237617878
GRCh38:
Chr1:237454578
RYR2not specified, Cardiovascular phenotypeGO-ESP:0.00008(T)
GMAF:0.00020(T)
GO-ESP:0.00017(T)
Uncertain significance
(Dec 12, 2015)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:237619889
GRCh38:
Chr1:237456589
RYR2not specifiedBenign/Likely benign
(Apr 7, 2012)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:237619971
GRCh38:
Chr1:237456671
RYR2not specifiedGO-ESP:0.00066(C)
GMAF:0.00040(C)
GO-ESP:0.00044(C)
Benign/Likely benign
(Mar 6, 2015)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:237619984
GRCh38:
Chr1:237456684
RYR2not specifiedGO-ESP:0.00009(A)Uncertain significance
(Mar 1, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr1:237632393
GRCh38:
Chr1:237469093
RYR2not providedGMAF:0.00020(A)
GO-ESP:0.00001(A)
Uncertain significance
(Aug 22, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr1:237632420
GRCh38:
Chr1:237469120
RYR2not specifiedUncertain significance
(Jan 10, 2012)
criteria provided, single submitter
64.
GRCh37:
Chr1:237632454
GRCh38:
Chr1:237469154
RYR2not specifiedGO-ESP:0.00004(G)Uncertain significance
(Jul 1, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr1:237655124
GRCh38:
Chr1:237491824
RYR2not specifiedUncertain significance
(Dec 29, 2011)
criteria provided, single submitter
66.
GRCh37:
Chr1:237655172
GRCh38:
Chr1:237491872
RYR2not specifiedUncertain significance
(Apr 15, 2013)
criteria provided, single submitter
67.
GRCh37:
Chr1:237655173
GRCh38:
Chr1:237491873
RYR2not specified, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia,
Cardiomyopathy, ARVC
GO-ESP:0.02415(T)
GMAF:0.02160(T)
GO-ESP:0.02875(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:237655188
GRCh38:
Chr1:237491888
RYR2not specifiedUncertain significance
(Dec 17, 2012)
criteria provided, single submitter
69.
GRCh37:
Chr1:237655219
GRCh38:
Chr1:237491919
RYR2not specifiedGO-ESP:0.00017(T)Uncertain significance
(Mar 14, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:237656258
GRCh38:
Chr1:237492958
RYR2not specifiedUncertain significance
(Jul 19, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr1:237659822
GRCh38:
Chr1:237496522
RYR2not specifiedGO-ESP:0.00004(G)Uncertain significance
(Nov 28, 2012)
criteria provided, single submitter
72.
GRCh37:
Chr1:237659887
GRCh38:
Chr1:237496587
RYR2not specifiedUncertain significance
(Aug 26, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr1:237659899
GRCh38:
Chr1:237496599
RYR2not providedUncertain significance
(Nov 7, 2011)
criteria provided, single submitter
74.
GRCh37:
Chr1:237659987
GRCh38:
Chr1:237496687
RYR2not providedUncertain significance
(Jul 21, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr1:237663995
GRCh38:
Chr1:237500695
RYR2not specifiedGMAF:0.00240(T)
GO-ESP:0.00087(T)
Benign
(Jun 19, 2014)
criteria provided, single submitter
76.
GRCh37:
Chr1:237664060
GRCh38:
Chr1:237500760
RYR2not specifiedGO-ESP:0.00015(G)Benign
(Oct 24, 2014)
criteria provided, single submitter
77.
GRCh37:
Chr1:237664074
GRCh38:
Chr1:237500774
RYR2Cardiac arrhythmia, Paroxysmal familial ventricular fibrillation 1, not specified,
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GO-ESP:0.00020(A)Conflicting interpretations of pathogenicity
(Jun 22, 2016)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr1:237664108
GRCh38:
Chr1:237500808
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GMAF:0.00620(T)
GO-ESP:0.00253(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:237664157
GRCh38:
Chr1:237500857
RYR2not providedUncertain significance
(Jul 28, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr1:237666573
GRCh38:
Chr1:237503273
RYR2not specifiedGMAF:0.00000(T)
GO-ESP:0.00026(T)
Benign
(Jun 26, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr1:237666583
GRCh38:
Chr1:237503283
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GO-ESP:0.01127(T)
GMAF:0.01320(T)
GO-ESP:0.00935(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:237666591
GRCh38:
Chr1:237503291
RYR2not specifiedUncertain significance
(May 8, 2014)
criteria provided, single submitter
83.
GRCh37:
Chr1:237666594
GRCh38:
Chr1:237503294
RYR2not specifiedGO-ESP:0.00025(T)
GO-ESP:0.00006(T)
Uncertain significance
(Apr 9, 2015)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:237666674
GRCh38:
Chr1:237503374
RYR2not specifiedLikely benign
(Aug 29, 2012)
criteria provided, single submitter
85.
GRCh37:
Chr1:237666699
GRCh38:
Chr1:237503399
RYR2not specifiedUncertain significance
(May 20, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr1:237666766
GRCh38:
Chr1:237503466
RYR2not specified, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy, ARVC
GO-ESP:0.00017(A)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr1:237666781
GRCh38:
Chr1:237503481
RYR2not specifiedBenign
(Jun 28, 2011)
criteria provided, single submitter
88.
GRCh37:
Chr1:237666821
GRCh38:
Chr1:237503521
RYR2not specifiedGMAF:0.00120(T)
GO-ESP:0.00028(T)
Benign
(Mar 20, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr1:237670025
GRCh38:
Chr1:237506725
RYR2not specifiedGO-ESP:0.00011(T)Uncertain significance
(Jul 2, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr1:237670107
GRCh38:
Chr1:237506807
RYR2not specified, not providedGO-ESP:0.00012(G)Uncertain significance
(Mar 4, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:237675024
GRCh38:
Chr1:237511724
RYR2not specifiedGO-ESP:0.00025(A)Uncertain significance
(Sep 8, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:237693732
GRCh38:
Chr1:237530432
RYR2not specifiedGO-ESP:0.00023(C)Uncertain significance
(Jul 27, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:237693752
GRCh38:
Chr1:237530452
RYR2not specifiedUncertain significance
(Apr 14, 2014)
criteria provided, single submitter
94.
GRCh37:
Chr1:237711759
GRCh38:
Chr1:237548459
RYR2not specified, Cardiovascular phenotypeGMAF:0.00040(T)
GO-ESP:0.00016(T)
Uncertain significance
(Oct 21, 2015)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:237711849
GRCh38:
Chr1:237548549
RYR2not specifiedGMAF:0.00020(T)
GO-ESP:0.00006(T)
Uncertain significance
(Feb 26, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr1:237711861
GRCh38:
Chr1:237548561
RYR2not specifiedGO-ESP:0.00001(T)Uncertain significance
(Aug 29, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr1:237711862
GRCh38:
Chr1:237548562
RYR2Ventricular tachycardia, catecholaminergic polymorphic, 1, not specified, Catecholaminergic polymorphic ventricular tachycardia
GMAF:0.00040(A)
GO-ESP:0.00046(A)
Uncertain significance
(Jul 14, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:237713928
GRCh38:
Chr1:237550628
RYR2not providedGO-ESP:0.00017(T)Likely pathogenic
(Oct 28, 2013)
criteria provided, single submitter
99.
GRCh37:
Chr1:237713929
GRCh38:
Chr1:237550629
RYR2not specifiedGO-ESP:0.00025(A)
GMAF:0.00020(A)
GO-ESP:0.00009(A)
Uncertain significance
(Nov 17, 2015)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:237713941
GRCh38:
Chr1:237550641
RYR2not specifiedGO-ESP:0.00003(A)Uncertain significance
(Aug 27, 2014)
criteria provided, single submitter
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