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Items: 1 to 100 of 904

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:28672132
GRCh38:
Chr18:31092169
DSC2I96LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 8, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr18:28672280
GRCh38:
Chr18:31092317
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Apr 4, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr18:28647981-28681934
DSC2Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr18:28673522-28673606
DSC2Arrhythmogenic right ventricular dysplasia 11Pathogenic
(Mar 23, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr18:28681846-28681934
DSC2Arrhythmogenic right ventricular dysplasia 11Pathogenic
(May 20, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr18:28651804
GRCh38:
Chr18:31071838
DSC2T488I, T631IArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr18:28662280
GRCh38:
Chr18:31082314
DSC2L253*, L396*Arrhythmogenic right ventricular dysplasia 11Pathogenic
(Apr 7, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr18:28648840
GRCh38:
Chr18:31068874
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Oct 5, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr18:28660107
GRCh38:
Chr18:31080141
DSC2G349A, G492AInborn genetic diseases, Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr18:28667773
GRCh38:
Chr18:31087810
DSC2I212V, I69VArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jul 29, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr18:28654775
GRCh38:
Chr18:31074809
DSC2T588S, T445SArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr18:28649117
GRCh38:
Chr18:31069151
DSC2Y751H, Y608HArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr18:28648995
GRCh38:
Chr18:31069029
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Mar 8, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr18:28654742
GRCh38:
Chr18:31074776
DSC2P599A, P456AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Feb 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr18:28647994
GRCh38:
Chr18:31068028
DSC2C755F, C898FArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr18:28648985
GRCh38:
Chr18:31069019
DSC2E652K, E795KArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr18:28666599
GRCh38:
Chr18:31086636
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Oct 4, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr18:28660286
GRCh38:
Chr18:31080320
DSC2I432M, I289MArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Dec 7, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr18:28667614
GRCh38:
Chr18:31087651
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Mar 14, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr18:28650767
GRCh38:
Chr18:31070801
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Sep 4, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr18:28651821
GRCh38:
Chr18:31071855
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jul 13, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr18:28659936
GRCh38:
Chr18:31079970
DSC2P371A, P514AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr18:28666528
GRCh38:
Chr18:31086565
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 15, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr18:28663043
GRCh38:
Chr18:31083077
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 9, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr18:28650800
GRCh38:
Chr18:31070834
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jun 28, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr18:28666553
GRCh38:
Chr18:31086590
DSC2Q167E, Q310EArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 2, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr18:28666530
GRCh38:
Chr18:31086567
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Oct 21, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr18:28649079
GRCh38:
Chr18:31069113
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jul 20, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr18:28672276
GRCh38:
Chr18:31092313
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jul 1, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr18:28671017
GRCh38:
Chr18:31091054
DSC2G7C, G150CArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr18:28648128
GRCh38:
Chr18:31068162
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 25, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr18:28666604
GRCh38:
Chr18:31086641
DSC2T150A, T293AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 28, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr18:28654793
GRCh38:
Chr18:31074827
DSC2V439M, V582MArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Dec 18, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr18:28660270
GRCh38:
Chr18:31080304
DSC2V295L, V438LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 27, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr18:28659963-28659978
GRCh38:
Chr18:31079997-31080012
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 13, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr18:28654785
GRCh38:
Chr18:31074819
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 30, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr18:28669470
GRCh38:
Chr18:31089507
DSC2V188M, V45MArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr18:28671093
GRCh38:
Chr18:31091130
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jun 4, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr18:28672207
GRCh38:
Chr18:31092244
DSC2F71VArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Feb 27, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr18:28672090
GRCh38:
Chr18:31092127
DSC2F110LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Oct 4, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr18:28660186
GRCh38:
Chr18:31080220
DSC2D466H, D323HArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Oct 3, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr18:28650836
GRCh38:
Chr18:31070870
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 1, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr18:28651572
GRCh38:
Chr18:31071606
DSC2F565L, F708LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(May 1, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr18:28662207
GRCh38:
Chr18:31082241
DSC2K421fsArrhythmogenic right ventricular dysplasia 11Pathogenic
(May 2, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr18:28669411
GRCh38:
Chr18:31089448
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr18:28662212
GRCh38:
Chr18:31082246
DSC2V276I, V419IArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr18:28660088
GRCh38:
Chr18:31080122
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Apr 16, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr18:28669487
GRCh38:
Chr18:31089524
DSC2P39L, P182LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 12, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr18:28669403
GRCh38:
Chr18:31089440
DSC2E210A, E67AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 9, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr18:28672263
GRCh38:
Chr18:31092300
DSC2V52DArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 5, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr18:28672164
GRCh38:
Chr18:31092201
DSC2I85TArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr18:28666710
GRCh38:
Chr18:31086747
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Mar 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr18:28666702
GRCh38:
Chr18:31086739
DSC2T117I, T260IArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 24, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr18:28672245
GRCh38:
Chr18:31092282
DSC2F58CArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr18:28681919
GRCh38:
Chr18:31101956
DSC2, DSCASP6AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr18:28650822
GRCh38:
Chr18:31070856
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Mar 26, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr18:28662897
GRCh38:
Chr18:31082931
DSC2T215P, T358PArrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotypeUncertain significance
(Jan 29, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr18:28648063
GRCh38:
Chr18:31068097
DSC2R875L, R732LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Sep 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr18:28649103
GRCh38:
Chr18:31069137
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 16, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr18:28659818
GRCh38:
Chr18:31079852
DSC2D553G, D410GArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Oct 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr18:28649059
GRCh38:
Chr18:31069093
DSC2G770D, G627DArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Aug 29, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr18:28659804
GRCh38:
Chr18:31079838
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Apr 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr18:28660242
GRCh38:
Chr18:31080276
DSC2A304G, A447GArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jan 11, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr18:28667688
GRCh38:
Chr18:31087725
DSC2Y240C, Y97CArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 29, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr18:28650830-28650831
GRCh38:
Chr18:31070864-31070865
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jul 4, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr18:28667621
GRCh38:
Chr18:31087658
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jan 6, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr18:28651664
GRCh38:
Chr18:31071698
DSC2T678A, T535AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jan 2, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr18:28650725
GRCh38:
Chr18:31070759
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 31, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr18:28647992
GRCh38:
Chr18:31068026
DSC2M756L, M899LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr18:28650741
GRCh38:
Chr18:31070775
DSC2Q591R, Q734RArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr18:28648196-28648198
GRCh38:
Chr18:31068230-31068232
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Sep 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr18:28651757
GRCh38:
Chr18:31071791
DSC2V504I, V647ICardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jan 16, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr18:28671084
GRCh38:
Chr18:31091121
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Feb 23, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr18:28672163
GRCh38:
Chr18:31092200
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 9, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr18:28660318
GRCh38:
Chr18:31080352
DSC2P422S, P279SArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Apr 29, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr18:28666612
GRCh38:
Chr18:31086649
DSC2P290L, P147LArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr18:28673558
GRCh38:
Chr18:31093595
DSC2P40TArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr18:28654751
GRCh38:
Chr18:31074785
DSC2A596P, A453PArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Dec 10, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr18:28666628
GRCh38:
Chr18:31086665
DSC2I142V, I285VArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr18:28654629
GRCh38:
Chr18:31074663
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Sep 10, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr18:28681851
GRCh38:
Chr18:31101888
DSC2, DSCASArrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 31, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr18:28662978
GRCh38:
Chr18:31083012
DSC2Q188*, Q331*Arrhythmogenic right ventricular dysplasia 11Pathogenic
(Aug 19, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr18:28660061
GRCh38:
Chr18:31080095
DSC2Arrhythmogenic right ventricular dysplasia 11Likely pathogenic
(Aug 7, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr18:28650748
GRCh38:
Chr18:31070782
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Oct 14, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr18:28671120
GRCh38:
Chr18:31091157
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 4, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr18:28667747
GRCh38:
Chr18:31087784
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Aug 24, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr18:28660058
GRCh38:
Chr18:31080092
DSC2Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jul 4, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr18:28648845
GRCh38:
Chr18:31068879
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jun 28, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr18:28648841
GRCh38:
Chr18:31068875
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(Jun 24, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr18:28666541
GRCh38:
Chr18:31086578
DSC2E171K, E314KArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr18:28648113-28648114
GRCh38:
Chr18:31068147-31068148
DSC2Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 18, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr18:28672100
GRCh38:
Chr18:31092137
DSC2K106NArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr18:28662290
GRCh38:
Chr18:31082324
DSC2Y250D, Y393DArrhythmogenic right ventricular dysplasia 11Uncertain significance
(May 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr18:28659868
GRCh38:
Chr18:31079902
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 27, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr18:28670986
GRCh38:
Chr18:31091023
DSC2Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(May 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr18:28654689
GRCh38:
Chr18:31074723
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 19, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr18:28651686
GRCh38:
Chr18:31071720
DSC2Arrhythmogenic right ventricular dysplasia 11Likely benign
(May 18, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr18:28651807
GRCh38:
Chr18:31071841
DSC2D630V, D487VArrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr18:28662220
GRCh38:
Chr18:31082254
DSC2V273A, V416AArrhythmogenic right ventricular dysplasia 11Uncertain significance
(May 17, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr18:28671052
GRCh38:
Chr18:31091089
DSC2A138VArrhythmogenic right ventricular dysplasia 11Uncertain significance
(May 14, 2022)
criteria provided, single submitter
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