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Links from MedGen

Items: 1 to 100 of 545

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:32975485
GRCh38:
Chr12:32822551
PKP2N585fs, N629fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr6:7583494
GRCh38:
Chr6:7583261
DSPArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr6:7565604-7565605
GRCh38:
Chr6:7565371-7565372
DSPR265fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr6:7582874
GRCh38:
Chr6:7582641
DSPArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr3:14176266
GRCh38:
Chr3:14134766
TMEM43Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr17:39919324
GRCh38:
Chr17:41763072
JUPE470KArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr17:39911977
GRCh38:
Chr17:41755725
JUPArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr17:39923835
GRCh38:
Chr17:41767583
JUPArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr14:76429731
GRCh38:
Chr14:75963388
TGFB3P285QArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr14:76429789
GRCh38:
Chr14:75963446
TGFB3R266CArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr6:7584673-7584674
GRCh38:
Chr6:7584440-7584441
DSPR1795fs, R1951fs, R2394fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr1:237961374
GRCh38:
Chr1:237798074
RYR2R4665KArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr1:237895403
GRCh38:
Chr1:237732103
RYR2H3665YArrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotypeUncertain significance
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:237895397
GRCh38:
Chr1:237732097
RYR2P3663SCatecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:237824201
GRCh38:
Chr1:237660901
RYR2S2797NArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr1:237819203
GRCh38:
Chr1:237655903
RYR2S2683LArrhythmogenic right ventricular cardiomyopathy, Long QT syndromeUncertain significance
(Jul 24, 2023)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:237758820
GRCh38:
Chr1:237595520
RYR2M1487LArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr1:237777716
GRCh38:
Chr1:237614416
RYR2F1763CArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr1:237802479
GRCh38:
Chr1:237639179
RYR2N2365DArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr18:29121195-29121208
GRCh38:
Chr18:31541232-31541245
DSG2G640fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr1:237791254
GRCh38:
Chr1:237627954
RYR2T2105IArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr1:237817608
GRCh38:
Chr1:237654308
RYR2Y2620CArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr1:237774245
GRCh38:
Chr1:237610945
RYR2D1623YArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr12:33031482
GRCh38:
Chr12:32878548
PKP2Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr12:33030845-33030846
GRCh38:
Chr12:32877911-32877912
PKP2Q323fsArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr12:33003715
GRCh38:
Chr12:32850781
PKP2K455EArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr6:7581714
GRCh38:
Chr6:7581481
DSPL1764PArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr6:7583662
GRCh38:
Chr6:7583429
DSPG1457V, G1613V, G2056VArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr6:7570722
GRCh38:
Chr6:7570489
DSPN543HArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr18:28669529-28669530
GRCh38:
Chr18:31089566-31089567
DSC2T168fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr18:29104663
GRCh38:
Chr18:31524700
DSG2Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr18:29100872
GRCh38:
Chr18:31520909
DSG2T108SArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr18:28649120
GRCh38:
Chr18:31069154
DSC2Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr18:28650804
GRCh38:
Chr18:31070838
DSC2T713KCardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:237961400
GRCh38:
Chr1:237798100
RYR2K4674EArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr12:33030876
GRCh38:
Chr12:32877942
PKP2S313fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr12:33030953
GRCh38:
Chr12:32878019
PKP2R287fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr12:32974399
GRCh38:
Chr12:32821465
PKP2H635fs, H679fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr18:28659899
GRCh38:
Chr18:31079933
DSC2S526*Arrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr18:29104858
GRCh38:
Chr18:31524895
DSG2Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10Conflicting interpretations of pathogenicity
(Sep 28, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr18:28667694
GRCh38:
Chr18:31087731
DSC2D238GArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr18:29099765
GRCh38:
Chr18:31519802
DSG2Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathyConflicting interpretations of pathogenicity
(Jun 1, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr12:32975468
GRCh38:
Chr12:32822534
PKP2R635Q, R591Qnot specified, not provided, Cardiovascular phenotype,
Arrhythmogenic right ventricular dysplasia 9		Uncertain significance
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:33003813-33003814
GRCh38:
Chr12:32850879-32850880
PKP2L422fsArrhythmogenic right ventricular dysplasia 9, not provided, Arrhythmogenic right ventricular cardiomyopathy
Pathogenic
(Aug 3, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr6:7580102
GRCh38:
Chr6:7579869
DSPQ1227*Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Mar 1, 2017)		criteria provided, single submitter
46.
GRCh37:
Chr1:237811783
GRCh38:
Chr1:237648483
RYR2C2461YArrhythmogenic right ventricular cardiomyopathyUncertain significance
(May 2, 2017)		criteria provided, single submitter
47.
GRCh37:
Chr18:29110951
GRCh38:
Chr18:31530988
DSG2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jul 3, 2019)		criteria provided, single submitter
48.
GRCh37:
Chr12:32977069
GRCh38:
Chr12:32824135
PKP2R529fs, R573fsArrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jul 3, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr2:179527282
GRCh38:
Chr2:178662555
TTNK12312NArrhythmogenic right ventricular cardiomyopathyLikely benign
(Feb 2, 2017)		criteria provided, single submitter
50.
GRCh37:
Chr14:23858266
GRCh38:
Chr14:23389057
MYH6Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Arrhythmogenic right ventricular cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 26, 2021)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr12:112940053
GRCh38:
Chr12:112502249
PTPN11C573R, C569R, C568RRASopathy, Arrhythmogenic right ventricular cardiomyopathyConflicting interpretations of pathogenicity
(Mar 8, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr18:29104715-29104716
GRCh38:
Chr18:31524752-31524753
DSG2V295fsArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, See cases,
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB		Pathogenic/Likely pathogenic
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr14:23862699
GRCh38:
Chr14:23393490
MYH6G986Enot provided, Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy 14
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr10:18789787
GRCh38:
Chr10:18500858
CACNB2C140Y, C168Y, C113Y, C114Y, C120YCardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome 4,
not provided		Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr18:29125898
GRCh38:
Chr18:31545935
DSG2-AS1, DSG2I851fsArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10Pathogenic/Likely pathogenic
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr18:29126008
GRCh38:
Chr18:31546045
DSG2, DSG2-AS1S887GArrhythmogenic right ventricular cardiomyopathyUncertain significancecriteria provided, single submitter
57.
GRCh37:
Chr2:179432351
GRCh38:
Chr2:178567624
TTN-AS1, TTNG24529S, G17297S, G23602S, G26170S, G17105S, G17230Snot provided, Arrhythmogenic right ventricular cardiomyopathyConflicting interpretations of pathogenicity
(Jun 17, 2019)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr6:7579857
GRCh38:
Chr6:7579624
DSPA1145fsPrimary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(May 24, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr6:7580818-7580819
GRCh38:
Chr6:7580585-7580586
DSPQ1467fsArrhythmogenic right ventricular cardiomyopathy, not providedPathogenic/Likely pathogenic
(Feb 1, 2023)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:33031159-33031160
GRCh38:
Chr12:32878225-32878226
PKP2H218fsArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9Pathogenic/Likely pathogenic
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:7571676
GRCh38:
Chr6:7571443
DSPQ588*Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy,
Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy		Pathogenic/Likely pathogenic
(Dec 19, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:237947253
GRCh38:
Chr1:237783953
RYR2E4081KCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular cardiomyopathy,
not provided		Uncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr6:7559559
GRCh38:
Chr6:7559326
DSPQ175*Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8, not provided		Pathogenic/Likely pathogenic
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:69881335
GRCh38:
Chr10:68121578
MYPNP47LDilated cardiomyopathy 1KK, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype,
not provided		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
ChrX:32716056
GRCh38:
ChrX:32697939
DMDK297N, K174N, K289N, K293NArrhythmogenic right ventricular cardiomyopathy, Duchenne muscular dystrophy, not provided
Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:220283549
GRCh38:
Chr2:219418827
DESY122CDesmin-related myofibrillar myopathy, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy,
not provided		Conflicting interpretations of pathogenicity
(Nov 18, 2021)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr19:49675354
GRCh38:
Chr19:49172097
TRPM4A380V, A265V, A206Vnot provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype,
Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6, Progressive familial heart block type IB
Uncertain significance
(Apr 20, 2023)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:112441544
GRCh38:
Chr6:112120341
LAMA4G1529V, G1536VDilated cardiomyopathy 1JJ, not providedUncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr6:7584993-7584998
GRCh38:
Chr6:7584760-7584765
DSPCardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8,
Arrhythmogenic right ventricular cardiomyopathy		Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:32975436-32975437
GRCh38:
Chr12:32822502-32822503
PKP2G602*, G646*Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:33031913-33031917
GRCh38:
Chr12:32878979-32878983
PKP2Arrhythmogenic right ventricular cardiomyopathyPathogenic
(May 31, 2016)		criteria provided, single submitter
72.
GRCh37:
Chr10:112570154
GRCh38:
Chr10:110810396
RBM20A605Vnot provided, Dilated cardiomyopathy 1DD, Arrhythmogenic right ventricular cardiomyopathy,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Feb 23, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:236924432
GRCh38:
Chr1:236761132
ACTN2E829*, E621*Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1AA,
Primary familial hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Apr 4, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr2:220285637
GRCh38:
Chr2:219420915
DESQ329*not provided, Cardiomyopathy, Desmin-related myofibrillar myopathy,
Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy		Conflicting interpretations of pathogenicity
(May 6, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr1:237604620
GRCh38:
Chr1:237441320
RYR2E336GArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Nov 30, 2016)		criteria provided, single submitter
76.
GRCh37:
Chr1:237777734
GRCh38:
Chr1:237614434
RYR2V1769AArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Sep 26, 2016)		criteria provided, single submitter
77.
GRCh37:
Chr14:76429669
GRCh38:
Chr14:75963326
TGFB3Y306Hnot provided, Arrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 7, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:33030843-33030846
GRCh38:
Chr12:32877909-32877912
PKP2Q323fsArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9Pathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:33021997
GRCh38:
Chr12:32869063
PKP2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jul 5, 2017)		criteria provided, single submitter
80.
GRCh37:
Chr6:7568012
GRCh38:
Chr6:7567779
DSPnot provided, Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jan 19, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:7565733
GRCh38:
Chr6:7565500
DSPQ307*Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jul 17, 2017)		criteria provided, single submitter
82.
GRCh37:
Chr12:33030838-33030839
GRCh38:
Chr12:32877904-32877905
PKP2A326fsArrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Apr 28, 2017)		criteria provided, single submitter
83.
GRCh37:
Chr6:7579896-7579897
GRCh38:
Chr6:7579663-7579664
DSPE1159fsArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Primary dilated cardiomyopathy,
Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype		Pathogenic
(Jun 21, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr6:7556006
GRCh38:
Chr6:7555773
DSPQ76*Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathyLikely pathogenic
(Jun 13, 2017)		criteria provided, single submitter
85.
GRCh37:
Chr12:33030779
GRCh38:
Chr12:32877845
PKP2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Sep 21, 2016)		criteria provided, single submitter
86.
GRCh37:
Chr18:28669542
GRCh38:
Chr18:31089579
DSC2A164TCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular cardiomyopathy
Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr18:29125820
GRCh38:
Chr18:31545857
DSG2-AS1, DSG2R824HCardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Dec 12, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr18:28669437
GRCh38:
Chr18:31089474
DSC2R199CCardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 11, not provided		Uncertain significance
(Jun 12, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:237947035
GRCh38:
Chr1:237783735
RYR2N4008Snot provided, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular cardiomyopathy,
Cardiomyopathy		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:237946980
GRCh38:
Chr1:237783680
RYR2V3990ICatecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2,
Arrhythmogenic right ventricular cardiomyopathy		Uncertain significance
(Nov 14, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:32975532
GRCh38:
Chr12:32822598
PKP2L614fs, L570fsFamilial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(May 10, 2016)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr6:7581422
GRCh38:
Chr6:7581189
DSPQ1667*Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, not provided
Pathogenic/Likely pathogenic
(Apr 29, 2023)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:48244749
GRCh38:
Chr17:50167388
SGCAD20NArrhythmogenic right ventricular cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2DConflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr10:112572526
GRCh38:
Chr10:110812768
RBM20R791WCardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1DD
Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:179517256
GRCh38:
Chr2:178652529
TTNP13019L, P10585L, P11512Lnot provided, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Arrhythmogenic right ventricular cardiomyopathy		Conflicting interpretations of pathogenicity
(Apr 18, 2019)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr18:29104711
GRCh38:
Chr18:31524748
DSG2R292CCardiovascular phenotype, not provided, Arrhythmogenic right ventricular cardiomyopathy,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr6:7580728-7580732
GRCh38:
Chr6:7580495-7580499
DSPT1436fsCardiovascular phenotype, Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy		Pathogenic/Likely pathogenic
(Dec 13, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr6:7579556
GRCh38:
Chr6:7579323
DSPR1045*Cardiac arrhythmia, Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy,
Primary dilated cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8, not provided		Pathogenic/Likely pathogenic
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:237732505
GRCh38:
Chr1:237569205
RYR2V1162MCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy,
Cardiomyopathy		Uncertain significance
(Nov 5, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:237617822
GRCh38:
Chr1:237454522
RYR2K475RArrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
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