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Items: 1 to 100 of 655

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr18:29078037
GRCh38:
Chr18:31498074
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890093
2.
GRCh37:
Chr18:29078059
GRCh38:
Chr18:31498096
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000326462
3.
GRCh37:
Chr18:29078060-29078061
GRCh38:
Chr18:31498097-31498098
DSG2Arrhythmogenic right ventricular cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000326463
4.
GRCh37:
Chr18:29078071
GRCh38:
Chr18:31498108
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890094
5.
GRCh37:
Chr18:29078080
GRCh38:
Chr18:31498117
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000326464
6.
GRCh37:
Chr18:29078121
GRCh38:
Chr18:31498158
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000326465
7.
GRCh37:
Chr18:29078136
GRCh38:
Chr18:31498173
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000326466
8.
GRCh37:
Chr18:29078160
GRCh38:
Chr18:31498197
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000326467
9.
GRCh37:
Chr18:29078174-29078194
GRCh38:
Chr18:31498203-31498223
DSG2CardiomyopathyUncertain significance
(Oct 14, 2016)
criteria provided, single submitterVCV000188443
10.
GRCh37:
Chr18:29078171
GRCh38:
Chr18:31498208
DSG2Arrhythmogenic right ventricular cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000326468
11.
GRCh37:
Chr18:29078178
GRCh38:
Chr18:31498215
DSG2not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001269521
12.
GRCh37:
Chr18:29078182
GRCh38:
Chr18:31498219
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000890672
13.
GRCh37:
Chr18:29078190-29078216
GRCh38:
Chr18:31498227-31498253
DSG2not providedUncertain significance
(Dec 1, 2020)
criteria provided, single submitterVCV001012911
14.
GRCh37:
Chr18:29078193
GRCh38:
Chr18:31498230
DSG2not specifiedLikely benign
(Oct 26, 2015)
criteria provided, single submitterVCV000380755
15.
GRCh37:
Chr18:29078199
GRCh38:
Chr18:31498236
DSG2not specifiedLikely benign
(Aug 17, 2016)
criteria provided, single submitterVCV000388620
16.
GRCh37:
Chr18:29078200
GRCh38:
Chr18:31498237
DSG2Cardiomyopathy, not specifiedUncertain significance
(Dec 23, 2019)
criteria provided, single submitterVCV000163198
17.
GRCh37:
Chr18:29078203
GRCh38:
Chr18:31498240
DSG2CardiomyopathyUncertain significance
(Dec 18, 2019)
criteria provided, single submitterVCV000922399
18.
GRCh37:
Chr18:29078204
GRCh38:
Chr18:31498241
DSG2not provided, not specified, Cardiomyopathy
Uncertain significance
(Oct 29, 2019)
criteria provided, multiple submitters, no conflictsVCV000178664
19.
GRCh37:
Chr18:29078211
GRCh38:
Chr18:31498248
DSG2Arrhythmogenic right ventricular cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000326469
20.
GRCh37:
Chr18:29078212
GRCh38:
Chr18:31498249
DSG2CardiomyopathyUncertain significance
(Dec 23, 2019)
criteria provided, single submitterVCV000926635
21.
GRCh37:
Chr18:29078213
GRCh38:
Chr18:31498250
DSG2CardiomyopathyUncertain significance
(Dec 21, 2020)
criteria provided, single submitterVCV001171237
22.
GRCh37:
Chr18:29078214
GRCh38:
Chr18:31498251
DSG2not provided, CardiomyopathyConflicting interpretations of pathogenicity
(Nov 24, 2020)
criteria provided, conflicting interpretationsVCV000510690
23.
GRCh37:
Chr18:29078215
GRCh38:
Chr18:31498252
DSG2M1LCardiomyopathyUncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV001172391
24.
GRCh37:
Chr18:29078215
GRCh38:
Chr18:31498252
DSG2M1LCardiomyopathyUncertain significance
(Mar 16, 2019)
criteria provided, single submitterVCV000924921
25.
GRCh37:
Chr18:29078217
GRCh38:
Chr18:31498254
DSG2M1IArrhythmogenic right ventricular cardiomyopathy, type 10Pathogenic/Likely pathogenic
(Jul 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000657863
26.
GRCh37:
Chr18:29078220
GRCh38:
Chr18:31498257
DSG2CardiomyopathyLikely benign
(Jul 13, 2020)
criteria provided, single submitterVCV001171456
27.
GRCh37:
Chr18:29078220
GRCh38:
Chr18:31498257
DSG2Cardiomyopathy, not specified, Cardiovascular phenotype,
not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000137166
28.
GRCh37:
Chr18:29078224
GRCh38:
Chr18:31498261
DSG2S4GCardiomyopathyUncertain significance
(Apr 6, 2020)
criteria provided, single submitterVCV000924083
29.
GRCh37:
Chr18:29078228
GRCh38:
Chr18:31498265
DSG2P5Lnot provided, Cardiovascular phenotypeUncertain significance
(Jan 3, 2017)
criteria provided, multiple submitters, no conflictsVCV000496147
30.
GRCh37:
Chr18:29078229
GRCh38:
Chr18:31498266
DSG2not provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy,
Arrhythmogenic right ventricular cardiomyopathy, type 10, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jul 9, 2020)
criteria provided, conflicting interpretationsVCV000326470
31.
GRCh37:
Chr18:29078236
GRCh38:
Chr18:31498273
DSG2A8TCardiomyopathyUncertain significance
(Jan 5, 2019)
criteria provided, single submitterVCV000918240
32.
GRCh37:
Chr18:29078244
GRCh38:
Chr18:31498281
DSG2CardiomyopathyLikely benign
(Oct 17, 2018)
criteria provided, single submitterVCV000629781
33.
GRCh37:
Chr18:29078245
GRCh38:
Chr18:31498282
DSG2not provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, type 10
Likely benign
(Feb 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000762484
34.
GRCh37:
Chr18:29078251
GRCh38:
Chr18:31498288
DSG2L13FCardiomyopathyUncertain significance
(Nov 28, 2018)
criteria provided, single submitterVCV000920722
35.
GRCh37:
Chr18:29078252
GRCh38:
Chr18:31498289
DSG2L13RCardiomyopathyUncertain significance
(Nov 14, 2018)
criteria provided, single submitterVCV000628323
36.
GRCh37:
Chr18:29078254-29078256
GRCh38:
Chr18:31498291-31498293
DSG2L15delArrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jun 8, 2020)
criteria provided, single submitterVCV001023346
37.
GRCh37:
Chr18:29078256
GRCh38:
Chr18:31498293
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Aug 24, 2019)
criteria provided, single submitterVCV000466342
38.
GRCh37:
Chr18:29078258
GRCh38:
Chr18:31498295
DSG2L15QPrimary familial dilated cardiomyopathy, Cardiovascular phenotype, not provided,
not specified, Arrhythmogenic right ventricular cardiomyopathy, type 10, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Apr 20, 2021)
criteria provided, conflicting interpretationsVCV000044318
39.
GRCh37:
Chr18:29078260
GRCh38:
Chr18:31498297
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely pathogeniccriteria provided, single submitterVCV000973533
40.
GRCh37:
Chr18:29078260
GRCh38:
Chr18:31498297
DSG2CardiomyopathyUncertain significance
(Dec 5, 2018)
criteria provided, single submitterVCV000925437
41.
GRCh37:
Chr18:29078260
GRCh38:
Chr18:31498297
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely pathogenic
(Jun 12, 2018)
criteria provided, single submitterVCV000567764
42.
GRCh37:
Chr18:29078265
GRCh38:
Chr18:31498302
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10, CardiomyopathyConflicting interpretations of pathogenicity
(Jul 1, 2020)
criteria provided, conflicting interpretationsVCV000923077
43.
GRCh37:
Chr18:29078268
GRCh38:
Chr18:31498305
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000534691
44.
GRCh37:
Chr18:29078268
GRCh38:
Chr18:31498305
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Conflicting interpretations of pathogenicity
(Oct 28, 2020)
criteria provided, conflicting interpretationsVCV000466343
45.
GRCh37:
Chr18:29078269
GRCh38:
Chr18:31498306
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Apr 20, 2018)
criteria provided, single submitterVCV000758426
46.
GRCh37:
Chr18:29078269
GRCh38:
Chr18:31498306
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000326471
47.
GRCh37:
Chr18:29078275
GRCh38:
Chr18:31498312
DSG2not provided, not specifiedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001284722
48.
GRCh37:
Chr18:29078276
GRCh38:
Chr18:31498313
DSG2not providedBenign
(Jul 19, 2016)
criteria provided, single submitterVCV001296354
49.
GRCh37:
Chr18:29078516
GRCh38:
Chr18:31498553
DSG2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000683472
50.
GRCh37:
Chr18:29098191
GRCh38:
Chr18:31518228
DSG2not specifiedLikely benign
(Aug 12, 2016)
criteria provided, single submitterVCV000388617
51.
GRCh37:
Chr18:29098193
GRCh38:
Chr18:31518230
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Sep 19, 2019)
criteria provided, single submitterVCV001117862
52.
GRCh37:
Chr18:29098199
GRCh38:
Chr18:31518236
DSG2not specified, CardiomyopathyLikely benign
(Dec 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000514432
53.
GRCh37:
Chr18:29098202
GRCh38:
Chr18:31518239
DSG2I16FCardiomyopathyUncertain significance
(Feb 4, 2019)
criteria provided, single submitterVCV000926420
54.
GRCh37:
Chr18:29098202
GRCh38:
Chr18:31518239
DSG2I16Vnot provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, type 10
Uncertain significance
(May 2, 2019)
criteria provided, multiple submitters, no conflictsVCV000426374
55.
GRCh37:
Chr18:29098203
GRCh38:
Chr18:31518240
DSG2I16TCardiomyopathyUncertain significance
(Jan 29, 2020)
criteria provided, single submitterVCV000926324
56.
GRCh37:
Chr18:29098211
GRCh38:
Chr18:31518248
DSG2N19Dnot specified, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, type 10
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000511964
57.
GRCh37:
Chr18:29098213
GRCh38:
Chr18:31518250
DSG2not specified, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, type 10
Benign/Likely benign
(Oct 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000137160
58.
GRCh37:
Chr18:29098214
GRCh38:
Chr18:31518251
DSG2V20ICardiomyopathyUncertain significance
(Aug 21, 2019)
criteria provided, single submitterVCV000923895
59.
GRCh37:
Chr18:29098216
GRCh38:
Chr18:31518253
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Jun 22, 2020)
criteria provided, single submitterVCV001095491
60.
GRCh37:
Chr18:29098227
GRCh38:
Chr18:31518264
DSG2L24Pnot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000872394
61.
GRCh37:
Chr18:29098229
GRCh38:
Chr18:31518266
DSG2H25YCardiomyopathyUncertain significance
(Aug 29, 2018)
criteria provided, single submitterVCV000629173
62.
GRCh37:
Chr18:29098234
GRCh38:
Chr18:31518271
DSG2CardiomyopathyLikely benign
(Nov 24, 2019)
criteria provided, single submitterVCV000925256
63.
GRCh37:
Chr18:29098244
GRCh38:
Chr18:31518281
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000756346
64.
GRCh37:
Chr18:29098247
GRCh38:
Chr18:31518284
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10, not specifiedBenign/Likely benign
(Sep 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000381896
65.
GRCh37:
Chr18:29098253-29098254
GRCh38:
Chr18:31518290-31518291
DSG2not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001182019
66.
GRCh37:
Chr18:29098254
GRCh38:
Chr18:31518291
DSG2not specified, not providedBenign/Likely benignno assertion criteria providedVCV001284607
67.
GRCh37:
Chr18:29098323
GRCh38:
Chr18:31518360
DSG2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671032
68.
GRCh37:
Chr18:29098345
GRCh38:
Chr18:31518382
DSG2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671013
69.
GRCh37:
Chr18:29098474
GRCh38:
Chr18:31518511
DSG2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000678478
70.
GRCh37:
Chr18:29099756
GRCh38:
Chr18:31519793
DSG2not specifiedLikely benign
(Jan 11, 2018)
criteria provided, single submitterVCV000512648
71.
GRCh37:
Chr18:29099762
GRCh38:
Chr18:31519799
DSG2CardiomyopathyLikely benign
(Aug 2, 2019)
criteria provided, single submitterVCV000919705
72.
GRCh37:
Chr18:29099763
GRCh38:
Chr18:31519800
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10, CardiomyopathyConflicting interpretations of pathogenicity
(Aug 8, 2020)
criteria provided, conflicting interpretationsVCV000922662
73.
GRCh37:
Chr18:29099764
GRCh38:
Chr18:31519801
DSG2CardiomyopathyUncertain significance
(Jul 20, 2019)
criteria provided, single submitterVCV000927630
74.
GRCh37:
Chr18:29099768
GRCh38:
Chr18:31519805
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10, not specified, not provided,
Cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000044327
75.
GRCh37:
Chr18:29099770-29099771
GRCh38:
Chr18:31519807-31519808
DSG2L29fsnot providedLikely pathogenic
(Mar 17, 2021)
criteria provided, single submitterVCV000199834
76.
GRCh37:
Chr18:29099770
GRCh38:
Chr18:31519807
DSG2L29Snot providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitterVCV000191625
77.
GRCh37:
Chr18:29099774
GRCh38:
Chr18:31519811
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Sep 24, 2019)
criteria provided, single submitterVCV001088896
78.
GRCh37:
Chr18:29099775
GRCh38:
Chr18:31519812
DSG2T31fsnot providedLikely pathogenic
(Nov 15, 2016)
criteria provided, single submitterVCV000422697
79.
GRCh37:
Chr18:29099782
GRCh38:
Chr18:31519819
DSG2N33Snot provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000199795
80.
GRCh37:
Chr18:29099782
GRCh38:
Chr18:31519819
DSG2N33Tnot specified, Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Sep 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000179897
81.
GRCh37:
Chr18:29099783
GRCh38:
Chr18:31519820
DSG2not providedLikely benign
(Jun 18, 2018)
criteria provided, single submitterVCV000749713
82.
GRCh37:
Chr18:29099789
GRCh38:
Chr18:31519826
DSG2N35KCardiomyopathyUncertain significance
(Aug 21, 2019)
criteria provided, single submitterVCV000919997
83.
GRCh37:
Chr18:29099790
GRCh38:
Chr18:31519827
DSG2K36ECardiomyopathyUncertain significance
(Jun 18, 2019)
criteria provided, single submitterVCV000919835
84.
GRCh37:
Chr18:29099805
GRCh38:
Chr18:31519842
DSG2H41Nnot provided, Arrhythmogenic right ventricular cardiomyopathy, type 10, Cardiomyopathy
Likely benign
(May 25, 2021)
criteria provided, multiple submitters, no conflictsVCV000419925
85.
GRCh37:
Chr18:29099806
GRCh38:
Chr18:31519843
DSG2H41LCardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000659450
86.
GRCh37:
Chr18:29099812
GRCh38:
Chr18:31519849
DSG2H43Rnot provided, CardiomyopathyUncertain significance
(Jun 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000922473
87.
GRCh37:
Chr18:29099820
GRCh38:
Chr18:31519857
DSG2R46WArrhythmogenic right ventricular cardiomyopathy, type 10Likely pathogenic
(Oct 10, 2020)
criteria provided, single submitterVCV000863095
88.
GRCh37:
Chr18:29099821
GRCh38:
Chr18:31519858
DSG2R46Qnot provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10,
Arrhythmogenic right ventricular cardiomyopathy, type 10
Pathogenic
(Dec 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000016812
89.
GRCh37:
Chr18:29099822
GRCh38:
Chr18:31519859
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001142707
90.
GRCh37:
Chr18:29099827
GRCh38:
Chr18:31519864
DSG2K48RCardiomyopathyUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000924952
91.
GRCh37:
Chr18:29099829
GRCh38:
Chr18:31519866
DSG2R49SArrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Jan 30, 2017)
criteria provided, single submitterVCV000466331
92.
GRCh37:
Chr18:29099829
GRCh38:
Chr18:31519866
DSG2R49CCardiomyopathy, not providedConflicting interpretations of pathogenicity
(Oct 27, 2021)
criteria provided, conflicting interpretationsVCV000450040
93.
GRCh37:
Chr18:29099830
GRCh38:
Chr18:31519867
DSG2R49HArrhythmogenic right ventricular cardiomyopathy, not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10
Pathogenic/Likely pathogenic
(Dec 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000016810
94.
GRCh37:
Chr18:29099831
GRCh38:
Chr18:31519868
DSG2not specified, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, type 10
Conflicting interpretations of pathogenicity
(Nov 11, 2020)
criteria provided, conflicting interpretationsVCV000326472
95.
GRCh37:
Chr18:29099832
GRCh38:
Chr18:31519869
DSG2A50TCardiomyopathy, not providedUncertain significance
(Dec 3, 2019)
criteria provided, single submitterVCV000925861
96.
GRCh37:
Chr18:29099835
GRCh38:
Chr18:31519872
DSG2W51Rnot provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Uncertain significance
(Feb 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000420241
97.
GRCh37:
Chr18:29099836
GRCh38:
Chr18:31519873
DSG2W51Snot providedLikely pathogenic
(Jul 22, 2014)
criteria provided, single submitterVCV000199796
98.
GRCh37:
Chr18:29099836
GRCh38:
Chr18:31519873
DSG2W51Lnot specifiedUncertain significance
(Feb 19, 2016)
criteria provided, single submitterVCV000044282
99.
GRCh37:
Chr18:29099843
GRCh38:
Chr18:31519880
DSG2not provided, Arrhythmogenic right ventricular cardiomyopathy, type 10Likely benign
(May 16, 2018)
criteria provided, single submitterVCV000534684
100.
GRCh37:
Chr18:29099844
GRCh38:
Chr18:31519881
DSG2A54TArrhythmogenic right ventricular cardiomyopathy, type 10, Cardiomyopathy, not specified
Uncertain significance
(Jan 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000929896
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