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Links from MedGen

Items: 1 to 100 of 518

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:237993925
GRCh38:
Chr1:237830625
RYR2N4917KVentricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Uncertain significance
(May 29, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr1:237941995
GRCh38:
Chr1:237778695
RYR2L3935FCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2
Likely pathogenic
(Nov 3, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr1:237656279
GRCh38:
Chr1:237492979
RYR2C618FArrhythmogenic right ventricular dysplasia 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr1:237787110
GRCh38:
Chr1:237623810
RYR2C1988RArrhythmogenic right ventricular dysplasia 2Uncertain significance
(Aug 23, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr1:237843820
GRCh38:
Chr1:237680520
RYR2S2987NArrhythmogenic right ventricular dysplasia 2Uncertain significance
(Jul 19, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr1:237655215
GRCh38:
Chr1:237491915
RYR2R606SArrhythmogenic right ventricular dysplasia 2Uncertain significance
(Mar 16, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr1:237961394
GRCh38:
Chr1:237798094
RYR2M4672LArrhythmogenic right ventricular dysplasia 2Uncertain significance
(Mar 3, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr1:237828422
GRCh38:
Chr1:237665122
RYR2Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Uncertain significance
(Jul 16, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr1:237794770
GRCh38:
Chr1:237631470
RYR2M2162LArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Uncertain significance
(Apr 25, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:237580383
GRCh38:
Chr1:237417083
RYR2H270Ynot provided, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Feb 21, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:237995886
GRCh38:
Chr1:237832586
RYR2C4948Ynot provided, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Nov 18, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:237617718
GRCh38:
Chr1:237454418
RYR2Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1		Likely benign
(Jul 2, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:237791262
GRCh38:
Chr1:237627962
RYR2I2108VCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:237870361
GRCh38:
Chr1:237707061
RYR2M3231ICatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Oct 22, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:237935377
GRCh38:
Chr1:237772077
RYR2V3875LCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Likely pathogenic
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:237961460
GRCh38:
Chr1:237798160
RYR2L4694VCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(May 19, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:237817689
GRCh38:
Chr1:237654389
RYR2G2647Dnot provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:237890498
GRCh38:
Chr1:237727198
RYR2R3613GCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:237831211
GRCh38:
Chr1:237667911
RYR2Y2848CCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:237550600
GRCh38:
Chr1:237387300
RYR2G199VCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:237947873
GRCh38:
Chr1:237784573
LOC126806068, RYR2Y4287*Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:237870455
GRCh38:
Chr1:237707155
RYR2M3263LVentricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:237670037
GRCh38:
Chr1:237506737
RYR2I881VCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:237961364
GRCh38:
Chr1:237798064
RYR2G4662RCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Nov 12, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:237802324
GRCh38:
Chr1:237639024
RYR2V2313Anot provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Jan 10, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:237538024
GRCh38:
Chr1:237374724
RYR2C131YCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:237756794
GRCh38:
Chr1:237593494
RYR2I1432VCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:237957284
GRCh38:
Chr1:237793984
RYR2V4634IArrhythmogenic right ventricular dysplasia 2Uncertain significancecriteria provided, single submitter
29.
GRCh37:
Chr1:74835140
GRCh38:
Chr1:74369456
FPGT-TNNI3K, TNNI3KL513P, L614PArrhythmogenic right ventricular dysplasia 2Likely pathogenic
(Oct 20, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr1:237801775
GRCh38:
Chr1:237638475
RYR2F2304SCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Cardiomyopathy		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:237955575
GRCh38:
Chr1:237792275
RYR2Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Arrhythmogenic right ventricular dysplasia 2		Likely benign
(Jul 23, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:237947676
GRCh38:
Chr1:237784376
LOC126806068, RYR2E4222KCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy		Uncertain significance
(Oct 25, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:237632425
GRCh38:
Chr1:237469125
RYR2A549VArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1Likely pathogeniccriteria provided, single submitter
34.
GRCh37:
Chr1:237729956
GRCh38:
Chr1:237566656
RYR2Y1102DCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2,
not provided		Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:237778090
GRCh38:
Chr1:237614790
RYR2R1888Wnot provided, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Oct 26, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:237824177
GRCh38:
Chr1:237660877
RYR2I2789Tnot provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Oct 18, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:237580399
GRCh38:
Chr1:237417099
RYR2W275*Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:237730066
GRCh38:
Chr1:237566766
RYR2D1138ECardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:237870354
GRCh38:
Chr1:237707054
RYR2T3229ICatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:237777739
GRCh38:
Chr1:237614439
RYR2I1771VCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1		Conflicting interpretations of pathogenicity
(Feb 15, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr1:237801675
GRCh38:
Chr1:237638375
RYR2G2271CCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiovascular phenotype		Uncertain significance
(Dec 28, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:237604656
GRCh38:
Chr1:237441356
RYR2G348DArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, not provided
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:237586538
GRCh38:
Chr1:237423238
RYR2R332QArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Oct 9, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:237870371
GRCh38:
Chr1:237707071
RYR2M3235VCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiovascular phenotype		Uncertain significance
(Nov 11, 2021)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:237774291
GRCh38:
Chr1:237610991
RYR2Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:237947877
GRCh38:
Chr1:237784577
LOC126806068, RYR2S4289GArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Oct 6, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:237666608
GRCh38:
Chr1:237503308
RYR2G806RArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:237947650
GRCh38:
Chr1:237784350
LOC126806068, RYR2E4213GArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:237886485
GRCh38:
Chr1:237723185
RYR2T3538PCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:237758818
GRCh38:
Chr1:237595518
RYR2Y1486CArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Cardiovascular phenotype, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:237617714
GRCh38:
Chr1:237454414
RYR2K439TCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Sep 4, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:237791142
GRCh38:
Chr1:237627842
RYR2R2068*Arrhythmogenic right ventricular dysplasia 2Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
53.
GRCh37:
Chr1:237837463-237837464
GRCh38:
Chr1:237674163-237674164
RYR2E2887fsArrhythmogenic right ventricular dysplasia 2Likely pathogenic
(Jan 1, 2019)		criteria provided, single submitter
54.
GRCh37:
Chr1:237969446
GRCh38:
Chr1:237806146
RYR2Y4721HCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Nov 18, 2019)		criteria provided, single submitter
55.
GRCh37:
Chr1:237955456
GRCh38:
Chr1:237792156
RYR2S4539RCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:237608709
GRCh38:
Chr1:237445409
RYR2M393ICatecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Sep 22, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:237778099
GRCh38:
Chr1:237614799
RYR2E1891KCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr1:237817644
GRCh38:
Chr1:237654344
RYR2A2632VCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:237666737
GRCh38:
Chr1:237503437
RYR2D849NCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, not provided
Conflicting interpretations of pathogenicity
(Aug 22, 2023)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr1:237433828
GRCh38:
Chr1:237270528
RYR2T27SCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:237729896
GRCh38:
Chr1:237566596
RYR2G1082RCardiomyopathy, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Uncertain significance
(Jun 4, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:237947932
GRCh38:
Chr1:237784632
LOC126806068, RYR2R4307HCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr1:237969493-237969494
GRCh38:
Chr1:237806193-237806194
RYR2A4740fsCardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:237713944
GRCh38:
Chr1:237550644
RYR2T1056Mnot provided, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1,
Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Jan 19, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:237955471
GRCh38:
Chr1:237792171
RYR2V4544MCardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:237886536
GRCh38:
Chr1:237723236
RYR2A3555TCardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Nov 10, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:237664082
GRCh38:
Chr1:237500782
RYR2L759VCardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Jul 13, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:237811902
GRCh38:
Chr1:237648602
RYR2S2501AArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Cardiomyopathy		Uncertain significance
(Jul 21, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:237666651
GRCh38:
Chr1:237503351
RYR2A820GCardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:237758892
GRCh38:
Chr1:237595592
RYR2V1511LCardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Sep 27, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:237798272
GRCh38:
Chr1:237634972
RYR2R2258CCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Cardiomyopathy		Uncertain significance
(Jun 4, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:237801713
GRCh38:
Chr1:237638413
RYR2K2283NVentricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Cardiomyopathy		Uncertain significance
(Jul 20, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:237777937
GRCh38:
Chr1:237614637
RYR2E1837KCardiovascular phenotype, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Conflicting interpretations of pathogenicity
(May 31, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr1:237791173
GRCh38:
Chr1:237627873
RYR2P2078LCardiovascular phenotype, Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Jun 6, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:237948073
GRCh38:
Chr1:237784773
LOC126806068, RYR2L4354RCardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:237619979
GRCh38:
Chr1:237456679
RYR2G519ACardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:237777953
GRCh38:
Chr1:237614653
RYR2I1842TCardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Nov 2, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:237656290
GRCh38:
Chr1:237492990
RYR2G622RCardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(May 2, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:237659813
GRCh38:
Chr1:237496513
RYR2M655TVentricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Cardiomyopathy		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:237947204
GRCh38:
Chr1:237783904
RYR2E4064DVentricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Cardiomyopathy		Uncertain significance
(Aug 18, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:237965216
GRCh38:
Chr1:237801916
RYR2Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy		Conflicting interpretations of pathogenicity
(Apr 1, 2022)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr1:237947782
GRCh38:
Chr1:237784482
LOC126806068, RYR2R4257QCatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy		Uncertain significance
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:237787065
GRCh38:
Chr1:237623765
RYR2I1973VCardiovascular phenotype, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Uncertain significance
(Aug 13, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:237813234
GRCh38:
Chr1:237649934
RYR2V2524ICardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Jun 9, 2023)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:237881796
GRCh38:
Chr1:237718496
RYR2R3510Lnot specified, Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:237778028
GRCh38:
Chr1:237614728
RYR2E1867ACardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2		Uncertain significance
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:237780691
GRCh38:
Chr1:237617391
RYR2R1941CCatecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:237755034
GRCh38:
Chr1:237591734
RYR2Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Uncertain significance
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:237961442
GRCh38:
Chr1:237798142
RYR2P4688ACardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy		Uncertain significance
(Jul 13, 2021)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:237619982
GRCh38:
Chr1:237456682
RYR2R520LCardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1,
Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy		Uncertain significance
(Jul 13, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:237664160
GRCh38:
Chr1:237500860
RYR2D785NCatecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:237814727
GRCh38:
Chr1:237651427
RYR2M2584VCardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		Uncertain significance
(Sep 8, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:237670013
GRCh38:
Chr1:237506713
RYR2V873MArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:237997215
GRCh38:
Chr1:237833915
RYR2Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr1:237996002
GRCh38:
Chr1:237832702
RYR2Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr1:237817646
GRCh38:
Chr1:237654346
RYR2A2633TCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Mar 24, 2020)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:237813298
GRCh38:
Chr1:237649998
RYR2I2545TArrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr1:237802421
GRCh38:
Chr1:237639121
RYR2Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
Conflicting interpretations of pathogenicity
(Mar 11, 2019)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:237774081
GRCh38:
Chr1:237610781
RYR2A1568VCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Uncertain significance
(Jun 30, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:237753260
GRCh38:
Chr1:237589960
LOC126806067, RYR2P1256TCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 24, 2021)		criteria provided, conflicting interpretations
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