| - GRCh37:
- Chr18:29078217
- GRCh38:
- Chr18:31498254
| DSG2 | M1I | Arrhythmogenic right ventricular dysplasia 10, not provided | Pathogenic/Likely pathogenic (May 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29078241
- GRCh38:
- Chr18:31498278
| DSG2 | Y9* | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29078260
- GRCh38:
- Chr18:31498297
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:29078260
- GRCh38:
- Chr18:31498297
| DSG2 | | not provided, Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29098238
- GRCh38:
- Chr18:31518275
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29098238
- GRCh38:
- Chr18:31518275
| DSG2 | | not provided | Likely pathogenic (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29099770-29099771
- GRCh38:
- Chr18:31519807-31519808
| DSG2 | L29fs | not provided | Likely pathogenic (Mar 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29099775
- GRCh38:
- Chr18:31519812
| DSG2 | T31fs | not provided, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic/Likely pathogenic (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099820
- GRCh38:
- Chr18:31519857
| DSG2 | R46W | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099821
- GRCh38:
- Chr18:31519858
| DSG2 | R46Q | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype | Pathogenic/Likely pathogenic (Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099830
- GRCh38:
- Chr18:31519867
| DSG2 | R49H | Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9 | Pathogenic/Likely pathogenic (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099836
- GRCh38:
- Chr18:31519873
| DSG2 | W51S | not provided | Likely pathogenic (Jul 22, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29099901
- GRCh38:
- Chr18:31519938
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29100838
- GRCh38:
- Chr18:31520875
| DSG2 | P97fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29100855-29100856
- GRCh38:
- Chr18:31520892-31520893
| DSG2 | V103fs | not provided | Likely pathogenic (Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29100910
- GRCh38:
- Chr18:31520947
| DSG2 | E121* | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29101060
- GRCh38:
- Chr18:31521097
| DSG2 | | not provided | Likely pathogenic (Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29101061
- GRCh38:
- Chr18:31521098
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29101073
- GRCh38:
- Chr18:31521110
| DSG2 | Y130* | not provided | Likely pathogenic (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29101104
- GRCh38:
- Chr18:31521141
| DSG2 | K141fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29101147-29101148
- GRCh38:
- Chr18:31521184-31521185
| DSG2 | E156fs | Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic (Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101176-29101177
- GRCh38:
- Chr18:31521213-31521214
| DSG2 | G166fs | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101191-29101195
- GRCh38:
- Chr18:31521228-31521232
| DSG2 | L171fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Oct 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101207
- GRCh38:
- Chr18:31521244
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29101207-29101208
- GRCh38:
- Chr18:31521244-31521245
| DSG2 | | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101207
- GRCh38:
- Chr18:31521244
| DSG2 | | Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101208
- GRCh38:
- Chr18:31521245
| DSG2 | | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29102044
- GRCh38:
- Chr18:31522081
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102049-29102055
- GRCh38:
- Chr18:31522086-31522092
| DSG2 | T176fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102120-29102124
- GRCh38:
- Chr18:31522157-31522161
| DSG2 | V201fs | not provided | Pathogenic (May 17, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102134-29102135
- GRCh38:
- Chr18:31522171-31522172
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (May 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102139-29102146
- GRCh38:
- Chr18:31522176-31522183
| DSG2 | Y207fs | not provided | Likely pathogenic (Aug 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102152
- GRCh38:
- Chr18:31522189
| DSG2 | F211fs | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29102170-29102171
- GRCh38:
- Chr18:31522207-31522208
| DSG2 | T217fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Feb 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102188
- GRCh38:
- Chr18:31522225
| DSG2 | T223fs | not provided | Likely pathogenic (Apr 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102196-29102200
- GRCh38:
- Chr18:31522233-31522237
| DSG2 | T226fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29102213
- GRCh38:
- Chr18:31522250
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104410
- GRCh38:
- Chr18:31524447
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104464-29104465
- GRCh38:
- Chr18:31524501-31524502
| DSG2 | T249fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (May 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104489
- GRCh38:
- Chr18:31524526
| DSG2 | Q257* | not provided | Pathogenic (May 28, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104517
- GRCh38:
- Chr18:31524554
| DSG2 | N266S | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Mar 7, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr18:29104522-29104523
- GRCh38:
- Chr18:31524559-31524560
| DSG2 | V271fs | not provided, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic/Likely pathogenic (Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104664
- GRCh38:
- Chr18:31524701
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, not provided | Likely pathogenic (Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104665
- GRCh38:
- Chr18:31524702
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104707-29104708
- GRCh38:
- Chr18:31524744-31524745
| DSG2 | T291fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (May 21, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104715-29104716
- GRCh38:
- Chr18:31524752-31524753
| DSG2 | V295fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, See cases | Pathogenic/Likely pathogenic (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104746
- GRCh38:
- Chr18:31524783
| DSG2 | D304fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104749-29104778
- GRCh38:
- Chr18:31524786-31524815
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104754
- GRCh38:
- Chr18:31524791
| DSG2 | W306* | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29104755
- GRCh38:
- Chr18:31524792
| DSG2 | W306* | not provided, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic/Likely pathogenic (Dec 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104778
- GRCh38:
- Chr18:31524815
| DSG2 | S314* | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic (Mar 20, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29110948
- GRCh38:
- Chr18:31530985
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Oct 30, 2020) | 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:
- Chr18:29110962
- GRCh38:
- Chr18:31530999
| DSG2 | E343* | Arrhythmogenic right ventricular dysplasia 10, not provided | Pathogenic/Likely pathogenic (Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29110987-29110988
- GRCh38:
- Chr18:31531024-31531025
| DSG2 | I353fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29111019-29111021
- GRCh38:
- Chr18:31531056-31531058
| DSG2 | K362fs | not provided | Likely pathogenic (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115233-29115234
- GRCh38:
- Chr18:31535270-31535271
| DSG2 | Y428fs | not provided | Likely pathogenic (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115263
- GRCh38:
- Chr18:31535300
| DSG2 | W437* | not provided | Likely pathogenic (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115282-29115304
- GRCh38:
- Chr18:31535319-31535341
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, Intellectual disability | Likely pathogenic (Aug 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115288
- GRCh38:
- Chr18:31535325
| DSG2 | E446* | not provided | Likely pathogenic (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115372-29115373
- GRCh38:
- Chr18:31535409-31535410
| DSG2 | D475fs | not provided | Likely pathogenic (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115376
- GRCh38:
- Chr18:31535413
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Likely pathogenic (Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116173-29116174
- GRCh38:
- Chr18:31536210-31536211
| DSG2 | T480fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29118713
- GRCh38:
- Chr18:31538750
| DSG2 | | not specified | Likely pathogenic (May 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29118734
- GRCh38:
- Chr18:31538771
| DSG2 | Q558* | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29118767
- GRCh38:
- Chr18:31538804
| DSG2 | Q569* | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29118812
- GRCh38:
- Chr18:31538849
| DSG2 | Q584* | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29118820-29118821
- GRCh38:
- Chr18:31538857-31538858
| DSG2 | T587fs | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29118833-29118834
- GRCh38:
- Chr18:31538870-31538871
| DSG2 | | not provided, Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jan 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29118885-29118886
- GRCh38:
- Chr18:31538922-31538923
| DSG2 | L610fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Cardiovascular phenotype | Pathogenic/Likely pathogenic (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29121154
- GRCh38:
- Chr18:31541191
| DSG2 | | not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Mar 17, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29121195-29121208
- GRCh38:
- Chr18:31541232-31541245
| DSG2 | G640fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29121277-29121282
- GRCh38:
- Chr18:31541314-31541319
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29121278
- GRCh38:
- Chr18:31541315
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29121278
- GRCh38:
- Chr18:31541315
| DSG2 | | Cardiovascular phenotype | Likely pathogenic (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115213-29126706
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Nov 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29099325-29099910
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29099746-29099920
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115223-29118951
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29099756-29099910
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Jul 6, 2019) | criteria provided, single submitter |