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Items: 80

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:29078217
GRCh38:
Chr18:31498254
DSG2M1IArrhythmogenic right ventricular dysplasia 10, not providedPathogenic/Likely pathogenic
(May 1, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr18:29078241
GRCh38:
Chr18:31498278
DSG2Y9*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 13, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr18:29078260
GRCh38:
Chr18:31498297
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr18:29078260
GRCh38:
Chr18:31498297
DSG2not provided, Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(May 21, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr18:29098238
GRCh38:
Chr18:31518275
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Aug 20, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr18:29098238
GRCh38:
Chr18:31518275
DSG2not providedLikely pathogenic
(Dec 30, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr18:29099770-29099771
GRCh38:
Chr18:31519807-31519808
DSG2L29fsnot providedLikely pathogenic
(Mar 17, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr18:29099775
GRCh38:
Chr18:31519812
DSG2T31fsnot provided, Arrhythmogenic right ventricular dysplasia 10Pathogenic/Likely pathogenic
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr18:29099820
GRCh38:
Chr18:31519857
DSG2R46WCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr18:29099821
GRCh38:
Chr18:31519858
DSG2R46QArrhythmogenic 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
11.
GRCh37:
Chr18:29099830
GRCh38:
Chr18:31519867
DSG2R49HArrhythmogenic 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
12.
GRCh37:
Chr18:29099836
GRCh38:
Chr18:31519873
DSG2W51Snot providedLikely pathogenic
(Jul 22, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr18:29099901
GRCh38:
Chr18:31519938
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Aug 9, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr18:29100838
GRCh38:
Chr18:31520875
DSG2P97fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Mar 27, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr18:29100855-29100856
GRCh38:
Chr18:31520892-31520893
DSG2V103fsnot providedLikely pathogenic
(Aug 3, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr18:29100910
GRCh38:
Chr18:31520947
DSG2E121*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Mar 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr18:29101060
GRCh38:
Chr18:31521097
DSG2not providedLikely pathogenic
(Jun 10, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr18:29101061
GRCh38:
Chr18:31521098
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr18:29101073
GRCh38:
Chr18:31521110
DSG2Y130*not providedLikely pathogenic
(Feb 10, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr18:29101104
GRCh38:
Chr18:31521141
DSG2K141fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Jan 6, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr18:29101147-29101148
GRCh38:
Chr18:31521184-31521185
DSG2E156fsCardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 10
Pathogenic
(Jul 9, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr18:29101176-29101177
GRCh38:
Chr18:31521213-31521214
DSG2G166fsDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided,
Arrhythmogenic right ventricular dysplasia 10
Pathogenic
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr18:29101191-29101195
GRCh38:
Chr18:31521228-31521232
DSG2L171fsArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Oct 26, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr18:29101207
GRCh38:
Chr18:31521244
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Oct 27, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr18:29101207-29101208
GRCh38:
Chr18:31521244-31521245
DSG2Dilated 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
26.
GRCh37:
Chr18:29101207
GRCh38:
Chr18:31521244
DSG2Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr18:29101208
GRCh38:
Chr18:31521245
DSG2Cardiovascular 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
28.
GRCh37:
Chr18:29102044
GRCh38:
Chr18:31522081
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr18:29102049-29102055
GRCh38:
Chr18:31522086-31522092
DSG2T176fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 20, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr18:29102120-29102124
GRCh38:
Chr18:31522157-31522161
DSG2V201fsnot providedPathogenic
(May 17, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr18:29102134-29102135
GRCh38:
Chr18:31522171-31522172
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(May 29, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr18:29102139-29102146
GRCh38:
Chr18:31522176-31522183
DSG2Y207fsnot providedLikely pathogenic
(Aug 21, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr18:29102152
GRCh38:
Chr18:31522189
DSG2F211fsCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr18:29102170-29102171
GRCh38:
Chr18:31522207-31522208
DSG2T217fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Feb 7, 2020)
criteria provided, single submitter
35.
GRCh37:
Chr18:29102188
GRCh38:
Chr18:31522225
DSG2T223fsnot providedLikely pathogenic
(Apr 20, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr18:29102196-29102200
GRCh38:
Chr18:31522233-31522237
DSG2T226fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Sep 2, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr18:29102213
GRCh38:
Chr18:31522250
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Sep 1, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr18:29104410
GRCh38:
Chr18:31524447
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Mar 18, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr18:29104464-29104465
GRCh38:
Chr18:31524501-31524502
DSG2T249fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(May 16, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr18:29104489
GRCh38:
Chr18:31524526
DSG2Q257*not providedPathogenic
(May 28, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr18:29104517
GRCh38:
Chr18:31524554
DSG2N266SArrhythmogenic right ventricular dysplasia 10Pathogenic
(Mar 7, 2006)
no assertion criteria provided
42.
GRCh37:
Chr18:29104522-29104523
GRCh38:
Chr18:31524559-31524560
DSG2V271fsnot provided, Arrhythmogenic right ventricular dysplasia 10Pathogenic/Likely pathogenic
(Sep 16, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr18:29104664
GRCh38:
Chr18:31524701
DSG2Arrhythmogenic right ventricular dysplasia 10, not providedLikely pathogenic
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr18:29104665
GRCh38:
Chr18:31524702
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Feb 7, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr18:29104707-29104708
GRCh38:
Chr18:31524744-31524745
DSG2T291fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(May 21, 2020)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr18:29104715-29104716
GRCh38:
Chr18:31524752-31524753
DSG2V295fsArrhythmogenic 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
47.
GRCh37:
Chr18:29104746
GRCh38:
Chr18:31524783
DSG2D304fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 19, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr18:29104749-29104778
GRCh38:
Chr18:31524786-31524815
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Feb 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr18:29104754
GRCh38:
Chr18:31524791
DSG2W306*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Sep 5, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr18:29104755
GRCh38:
Chr18:31524792
DSG2W306*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
51.
GRCh37:
Chr18:29104778
GRCh38:
Chr18:31524815
DSG2S314*Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Mar 20, 2012)
criteria provided, single submitter
52.
GRCh37:
Chr18:29110948
GRCh38:
Chr18:31530985
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Oct 30, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr18:29110951
GRCh38:
Chr18:31530988
DSG2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Jul 3, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr18:29110962
GRCh38:
Chr18:31530999
DSG2E343*Arrhythmogenic right ventricular dysplasia 10, not providedPathogenic/Likely pathogenic
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr18:29110987-29110988
GRCh38:
Chr18:31531024-31531025
DSG2I353fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Oct 28, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr18:29111019-29111021
GRCh38:
Chr18:31531056-31531058
DSG2K362fsnot providedLikely pathogenic
(Mar 4, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr18:29115233-29115234
GRCh38:
Chr18:31535270-31535271
DSG2Y428fsnot providedLikely pathogenic
(May 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr18:29115263
GRCh38:
Chr18:31535300
DSG2W437*not providedLikely pathogenic
(Sep 14, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr18:29115282-29115304
GRCh38:
Chr18:31535319-31535341
DSG2Arrhythmogenic right ventricular dysplasia 10, Intellectual disabilityLikely pathogenic
(Aug 3, 2020)
criteria provided, single submitter
60.
GRCh37:
Chr18:29115288
GRCh38:
Chr18:31535325
DSG2E446*not providedLikely pathogenic
(Dec 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr18:29115372-29115373
GRCh38:
Chr18:31535409-31535410
DSG2D475fsnot providedLikely pathogenic
(Jul 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr18:29115376
GRCh38:
Chr18:31535413
DSG2Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Likely pathogenic
(Feb 14, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr18:29116173-29116174
GRCh38:
Chr18:31536210-31536211
DSG2T480fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Jul 27, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr18:29118713
GRCh38:
Chr18:31538750
DSG2not specifiedLikely pathogenic
(May 24, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr18:29118734
GRCh38:
Chr18:31538771
DSG2Q558*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Sep 1, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr18:29118767
GRCh38:
Chr18:31538804
DSG2Q569*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 21, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr18:29118812
GRCh38:
Chr18:31538849
DSG2Q584*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Oct 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr18:29118820-29118821
GRCh38:
Chr18:31538857-31538858
DSG2T587fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Sep 3, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr18:29118833-29118834
GRCh38:
Chr18:31538870-31538871
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathyPathogenic
(Jan 19, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr18:29118885-29118886
GRCh38:
Chr18:31538922-31538923
DSG2L610fsArrhythmogenic 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
71.
GRCh37:
Chr18:29121154
GRCh38:
Chr18:31541191
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Mar 17, 2020)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr18:29121195-29121208
GRCh38:
Chr18:31541232-31541245
DSG2G640fsArrhythmogenic right ventricular cardiomyopathyPathogenic
(Jun 1, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr18:29121277-29121282
GRCh38:
Chr18:31541314-31541319
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr18:29121278
GRCh38:
Chr18:31541315
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Nov 30, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr18:29121278
GRCh38:
Chr18:31541315
DSG2Cardiovascular phenotypeLikely pathogenic
(Apr 26, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr18:29115213-29126706
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Nov 25, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr18:29099325-29099910
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Sep 9, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr18:29099746-29099920
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Aug 4, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr18:29115223-29118951
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Aug 12, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr18:29099756-29099910
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Jul 6, 2019)
criteria provided, single submitter
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