| - GRCh37:
- Chr12:32975485
- GRCh38:
- Chr12:32822551
| PKP2 | N585fs, N629fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7583494
- GRCh38:
- Chr6:7583261
| DSP | | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565604-7565605
- GRCh38:
- Chr6:7565371-7565372
| DSP | R265fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7582874
- GRCh38:
- Chr6:7582641
| DSP | | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:14176266
- GRCh38:
- Chr3:14134766
| TMEM43 | | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39919324
- GRCh38:
- Chr17:41763072
| JUP | E470K | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39911977
- GRCh38:
- Chr17:41755725
| JUP | | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39923835
- GRCh38:
- Chr17:41767583
| JUP | | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:76429731
- GRCh38:
- Chr14:75963388
| TGFB3 | P285Q | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:76429789
- GRCh38:
- Chr14:75963446
| TGFB3 | R266C | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7584673-7584674
- GRCh38:
- Chr6:7584440-7584441
| DSP | R1795fs, R1951fs, R2394fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237961374
- GRCh38:
- Chr1:237798074
| RYR2 | R4665K | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237895403
- GRCh38:
- Chr1:237732103
| RYR2 | H3665Y | Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype | Uncertain significance (Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237895397
- GRCh38:
- Chr1:237732097
| RYR2 | P3663S | Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237824201
- GRCh38:
- Chr1:237660901
| RYR2 | S2797N | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237819203
- GRCh38:
- Chr1:237655903
| RYR2 | S2683L | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237758820
- GRCh38:
- Chr1:237595520
| RYR2 | M1487L | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237777716
- GRCh38:
- Chr1:237614416
| RYR2 | F1763C | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237802479
- GRCh38:
- Chr1:237639179
| RYR2 | N2365D | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29121195-29121208
- GRCh38:
- Chr18:31541232-31541245
| DSG2 | G640fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237791254
- GRCh38:
- Chr1:237627954
| RYR2 | T2105I | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237817608
- GRCh38:
- Chr1:237654308
| RYR2 | Y2620C | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237774245
- GRCh38:
- Chr1:237610945
| RYR2 | D1623Y | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33031482
- GRCh38:
- Chr12:32878548
| PKP2 | | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33030845-33030846
- GRCh38:
- Chr12:32877911-32877912
| PKP2 | Q323fs | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33003715
- GRCh38:
- Chr12:32850781
| PKP2 | K455E | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7581714
- GRCh38:
- Chr6:7581481
| DSP | L1764P | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7583662
- GRCh38:
- Chr6:7583429
| DSP | G1457V, G1613V, G2056V | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7570722
- GRCh38:
- Chr6:7570489
| DSP | N543H | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28669529-28669530
- GRCh38:
- Chr18:31089566-31089567
| DSC2 | T168fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104663
- GRCh38:
- Chr18:31524700
| DSG2 | | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29100872
- GRCh38:
- Chr18:31520909
| DSG2 | T108S | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28649120
- GRCh38:
- Chr18:31069154
| DSC2 | | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28650804
- GRCh38:
- Chr18:31070838
| DSC2 | T713K | Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237961400
- GRCh38:
- Chr1:237798100
| RYR2 | K4674E | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33030876
- GRCh38:
- Chr12:32877942
| PKP2 | S313fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33030953
- GRCh38:
- Chr12:32878019
| PKP2 | R287fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32974399
- GRCh38:
- Chr12:32821465
| PKP2 | H635fs, H679fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28659899
- GRCh38:
- Chr18:31079933
| DSC2 | S526* | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104858
- GRCh38:
- Chr18:31524895
| DSG2 | | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:28667694
- GRCh38:
- Chr18:31087731
| DSC2 | D238G | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11 | Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099765
- GRCh38:
- Chr18:31519802
| DSG2 | | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Jun 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32975468
- GRCh38:
- Chr12:32822534
| PKP2 | R635Q, R591Q | not specified, not provided, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 | Uncertain significance (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:33003813-33003814
- GRCh38:
- Chr12:32850879-32850880
| PKP2 | L422fs | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7580102
- GRCh38:
- Chr6:7579869
| DSP | Q1227* | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Mar 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237811783
- GRCh38:
- Chr1:237648483
| RYR2 | C2461Y | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (May 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29110951
- GRCh38:
- Chr18:31530988
| DSG2 | | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32977069
- GRCh38:
- Chr12:32824135
| PKP2 | R529fs, R573fs | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179527282
- GRCh38:
- Chr2:178662555
| TTN | K12312N | Arrhythmogenic right ventricular cardiomyopathy | Likely benign (Feb 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23858266
- GRCh38:
- Chr14:23389057
| MYH6 | | Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy 14
| Conflicting interpretations of pathogenicity (Aug 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:112940053
- GRCh38:
- Chr12:112502249
| PTPN11 | C573R, C569R, C568R | RASopathy, Arrhythmogenic right ventricular cardiomyopathy | Conflicting interpretations of pathogenicity (Mar 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29104715-29104716
- GRCh38:
- Chr18:31524752-31524753
| DSG2 | V295fs | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, See cases | Pathogenic/Likely pathogenic (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23862699
- GRCh38:
- Chr14:23393490
| MYH6 | G986E | not provided, Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy 14
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:18789787
- GRCh38:
- Chr10:18500858
| CACNB2 | C140Y, C168Y, C113Y, C114Y, C120Y | Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome 4, not provided | Uncertain significance (Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125898
- GRCh38:
- Chr18:31545935
| DSG2-AS1, DSG2 | I851fs | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic/Likely pathogenic (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126008
- GRCh38:
- Chr18:31546045
| DSG2, DSG2-AS1 | S887G | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:179432351
- GRCh38:
- Chr2:178567624
| TTN-AS1, TTN | G24529S, G17297S, G23602S, G26170S, G17105S, G17230S | not provided, Arrhythmogenic right ventricular cardiomyopathy | Conflicting interpretations of pathogenicity (Jun 17, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7579857
- GRCh38:
- Chr6:7579624
| DSP | A1145fs | Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy | Likely pathogenic (May 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7580818-7580819
- GRCh38:
- Chr6:7580585-7580586
| DSP | Q1467fs | not provided, Arrhythmogenic right ventricular cardiomyopathy | Pathogenic/Likely pathogenic (Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:33031159-33031160
- GRCh38:
- Chr12:32878225-32878226
| PKP2 | H218fs | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9 | Pathogenic/Likely pathogenic (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7571676
- GRCh38:
- Chr6:7571443
| DSP | Q588* | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy | Pathogenic/Likely pathogenic (Dec 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237947253
- GRCh38:
- Chr1:237783953
| RYR2 | E4081K | not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype | Uncertain significance (Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7559559
- GRCh38:
- Chr6:7559326
| DSP | Q175* | Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic/Likely pathogenic (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:69881335
- GRCh38:
- Chr10:68121578
| MYPN | P47L | Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, not provided | Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:32716056
- GRCh38:
- ChrX:32697939
| DMD | K297N, K174N, K289N, K293N | Arrhythmogenic right ventricular cardiomyopathy, Duchenne muscular dystrophy, not provided
| Uncertain significance (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283549
- GRCh38:
- Chr2:219418827
| DES | Y122C | Desmin-related myofibrillar myopathy, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, not provided | Conflicting interpretations of pathogenicity (Nov 18, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:49675354
- GRCh38:
- Chr19:49172097
| TRPM4 | A380V, A265V, A206V | not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, Progressive familial heart block type IB, Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6
| Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:112441544
- GRCh38:
- Chr6:112120341
| LAMA4 | G1529V, G1536V | Dilated cardiomyopathy 1JJ, not provided | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7584993-7584998
- GRCh38:
- Chr6:7584760-7584765
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy | Uncertain significance (May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32975436-32975437
- GRCh38:
- Chr12:32822502-32822503
| PKP2 | G602*, G646* | Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy | Likely pathogenic (Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:33031913-33031917
- GRCh38:
- Chr12:32878979-32878983
| PKP2 | | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (May 31, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:112570154
- GRCh38:
- Chr10:110810396
| RBM20 | A605V | Dilated cardiomyopathy 1DD, Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular cardiomyopathy | Conflicting interpretations of pathogenicity (Feb 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:236924432
- GRCh38:
- Chr1:236761132
| ACTN2 | E829*, E621* | Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype | Conflicting interpretations of pathogenicity (Apr 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220285637
- GRCh38:
- Chr2:219420915
| DES | Q329* | Desmin-related myofibrillar myopathy, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype, not provided | Conflicting interpretations of pathogenicity (May 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:237604620
- GRCh38:
- Chr1:237441320
| RYR2 | E336G | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Nov 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237777734
- GRCh38:
- Chr1:237614434
| RYR2 | V1769A | Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Sep 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr14:76429669
- GRCh38:
- Chr14:75963326
| TGFB3 | Y306H | not provided, Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Apr 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:33030843-33030846
- GRCh38:
- Chr12:32877909-32877912
| PKP2 | Q323fs | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9 | Pathogenic/Likely pathogenic (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:33021997
- GRCh38:
- Chr12:32869063
| PKP2 | | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Jul 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568012
- GRCh38:
- Chr6:7567779
| DSP | | not provided, Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Jan 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7565733
- GRCh38:
- Chr6:7565500
| DSP | Q307* | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Jul 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33030838-33030839
- GRCh38:
- Chr12:32877904-32877905
| PKP2 | A326fs | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7579896-7579897
- GRCh38:
- Chr6:7579663-7579664
| DSP | E1159fs | Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic (Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7556006
- GRCh38:
- Chr6:7555773
| DSP | Q76* | Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy | Likely pathogenic (Jun 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33030779
- GRCh38:
- Chr12:32877845
| PKP2 | | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Sep 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28669542
- GRCh38:
- Chr18:31089579
| DSC2 | A164T | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular cardiomyopathy
| Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125820
- GRCh38:
- Chr18:31545857
| DSG2-AS1, DSG2 | R824H | Cardiovascular 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 |
| - GRCh37:
- Chr18:28669437
- GRCh38:
- Chr18:31089474
| DSC2 | R199C | Cardiomyopathy, Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237947035
- GRCh38:
- Chr1:237783735
| RYR2 | N4008S | Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, not provided | Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237946980
- GRCh38:
- Chr1:237783680
| RYR2 | V3990I | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular cardiomyopathy | Uncertain significance (Nov 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32975532
- GRCh38:
- Chr12:32822598
| PKP2 | L614fs, L570fs | Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (May 10, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7581422
- GRCh38:
- Chr6:7581189
| DSP | Q1667* | Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Pathogenic/Likely pathogenic (Apr 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48244749
- GRCh38:
- Chr17:50167388
| SGCA | D20N | Arrhythmogenic right ventricular cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D | Conflicting interpretations of pathogenicity (Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:112572526
- GRCh38:
- Chr10:110812768
| RBM20 | R791W | Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1DD
| Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179517256
- GRCh38:
- Chr2:178652529
| TTN | P13019L, P10585L, P11512L | not provided, Arrhythmogenic right ventricular cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G | Conflicting interpretations of pathogenicity (Apr 18, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29104711
- GRCh38:
- Chr18:31524748
| DSG2 | R292C | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular cardiomyopathy | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7580728-7580732
- GRCh38:
- Chr6:7580495-7580499
| DSP | T1436fs | Cardiovascular 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 |
| - GRCh37:
- Chr6:7579556
- GRCh38:
- Chr6:7579323
| DSP | R1045* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Cardiac arrhythmia, Cardiovascular phenotype, Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, not provided, Primary dilated cardiomyopathy | Pathogenic/Likely pathogenic (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237732505
- GRCh38:
- Chr1:237569205
| RYR2 | V1162M | Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype | Uncertain significance (Nov 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237617822
- GRCh38:
- Chr1:237454522
| RYR2 | K475R | Arrhythmogenic right ventricular cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
| Uncertain significance (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |