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Links from MedGen

Items: 1 to 100 of 1032

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr18:29100850
GRCh38:
Chr18:31520887
DSG2I101VArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 1, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr18:29118913
GRCh38:
Chr18:31538950
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Sep 20, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr18:29078215-29178638
TTR, DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Feb 21, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr18:29115213-29126706
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Nov 25, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr18:29122463-29122835
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 13, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr18:29098182-29178638
TTR, DSG2Arrhythmogenic right ventricular dysplasia 10, Amyloidogenic transthyretin amyloidosisUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr18:29100832
GRCh38:
Chr18:31520869
DSG2T95AArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 20, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr18:29115361
GRCh38:
Chr18:31535398
DSG2V470AArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Aug 13, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr18:29116383
GRCh38:
Chr18:31536420
DSG2R548GArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 17, 2021)		criteria provided, single submitter
10.
GRCh37:
Chr18:29104863
GRCh38:
Chr18:31524900
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jun 22, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr18:29125941
GRCh38:
Chr18:31545978
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10Likely benign
(Oct 17, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr18:29126465
GRCh38:
Chr18:31546502
DSG2, DSG2-AS1A1039VArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 20, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr18:29118750
GRCh38:
Chr18:31538787
DSG2L563PArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Aug 22, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr18:29098252
GRCh38:
Chr18:31518289
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jun 14, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr18:29122528
GRCh38:
Chr18:31542565
DSG2-AS1, DSG2G683RArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Oct 13, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr18:29126507
GRCh38:
Chr18:31546544
DSG2-AS1, DSG2P1053RArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 13, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr18:29126397
GRCh38:
Chr18:31546434
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jun 13, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr18:29078224
GRCh38:
Chr18:31498261
DSG2S4RArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jul 16, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr18:29098251
GRCh38:
Chr18:31518288
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(May 1, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr18:29111190
GRCh38:
Chr18:31531227
DSG2D419NArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jul 9, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr18:29126209
GRCh38:
Chr18:31546246
DSG2, DSG2-AS1G954CArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 9, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr18:29101176
GRCh38:
Chr18:31521213
DSG2V165FArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jun 7, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr18:29110950
GRCh38:
Chr18:31530987
DSG2E339KArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 27, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr18:29115311
GRCh38:
Chr18:31535348
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Apr 4, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr18:29101177
GRCh38:
Chr18:31521214
DSG2V165ACardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 17, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr18:29098188
GRCh38:
Chr18:31518225
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Oct 17, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr18:29122562
GRCh38:
Chr18:31542599
DSG2, DSG2-AS1A694GArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 21, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr18:29116282
GRCh38:
Chr18:31536319
DSG2N514TArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 24, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr18:29102086-29102087
GRCh38:
Chr18:31522123-31522124
DSG2P189TArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jul 17, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr18:29111154
GRCh38:
Chr18:31531191
DSG2G407SArrhythmogenic right ventricular dysplasia 10Uncertain significance
(May 8, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr18:29102038
GRCh38:
Chr18:31522075
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Aug 4, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr18:29126685
GRCh38:
Chr18:31546722
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10Likely benign
(Aug 12, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr18:29110931
GRCh38:
Chr18:31530968
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Aug 21, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr18:29101147
GRCh38:
Chr18:31521184
DSG2N155SArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 18, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr18:29126387
GRCh38:
Chr18:31546424
DSG2, DSG2-AS1Y1013SArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Aug 20, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr18:29115380
GRCh38:
Chr18:31535417
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 2, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr18:29099809
GRCh38:
Chr18:31519846
DSG2P42LArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Sep 20, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr18:29111067
GRCh38:
Chr18:31531104
DSG2K378QArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Aug 3, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr18:29118960
GRCh38:
Chr18:31538997
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jul 29, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr18:29125725
GRCh38:
Chr18:31545762
DSG2, DSG2-AS1Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10Likely benign
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr18:29121157
GRCh38:
Chr18:31541194
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jan 19, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr18:29111233
GRCh38:
Chr18:31531270
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Apr 23, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr18:29126495
GRCh38:
Chr18:31546532
DSG2-AS1, DSG2R1049IArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 18, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr18:29099919
GRCh38:
Chr18:31519956
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Dec 24, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr18:29098188
GRCh38:
Chr18:31518225
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 18, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr18:29104866
GRCh38:
Chr18:31524903
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jan 23, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr18:29118814
GRCh38:
Chr18:31538851
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Oct 20, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr18:29122531
GRCh38:
Chr18:31542568
DSG2-AS1, DSG2R684GArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jul 20, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr18:29078277
GRCh38:
Chr18:31498314
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(May 13, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr18:29104722
GRCh38:
Chr18:31524759
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Feb 20, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr18:29104809
GRCh38:
Chr18:31524846
DSG2E324DArrhythmogenic right ventricular dysplasia 10Uncertain significance
(May 9, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr18:29125665
GRCh38:
Chr18:31545702
DSG2-AS1, DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(May 5, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr18:29111001
GRCh38:
Chr18:31531038
DSG2N356HArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jun 14, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr18:29100827
GRCh38:
Chr18:31520864
DSG2G93EArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Apr 25, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr18:29104520
GRCh38:
Chr18:31524557
DSG2D267GArrhythmogenic right ventricular dysplasia 10Uncertain significance
(May 2, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr18:29100917
GRCh38:
Chr18:31520954
DSG2P123LArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Apr 9, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr18:29115363
GRCh38:
Chr18:31535400
DSG2A471TArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Apr 8, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr18:29100838
GRCh38:
Chr18:31520875
DSG2P97fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Mar 27, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr18:29099840
GRCh38:
Chr18:31519877
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Mar 18, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr18:29099814
GRCh38:
Chr18:31519851
DSG2L44VArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 30, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr18:29118940
GRCh38:
Chr18:31538977
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jun 8, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr18:29126337
GRCh38:
Chr18:31546374
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10Likely benign
(Mar 13, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr18:29125760
GRCh38:
Chr18:31545797
DSG2, DSG2-AS1T804SArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Mar 13, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr18:29100910
GRCh38:
Chr18:31520947
DSG2E121*Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Mar 13, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr18:29104564
GRCh38:
Chr18:31524601
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Feb 22, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr18:29115301
GRCh38:
Chr18:31535338
DSG2A450VArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Feb 20, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr18:29101225
GRCh38:
Chr18:31521262
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Feb 19, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr18:29102199
GRCh38:
Chr18:31522236
DSG2T226SArrhythmogenic right ventricular dysplasia 10, CardiomyopathyUncertain significance
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr18:29104665
GRCh38:
Chr18:31524702
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Feb 7, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr18:29104749-29104778
GRCh38:
Chr18:31524786-31524815
DSG2Arrhythmogenic right ventricular dysplasia 10Pathogenic
(Feb 4, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr18:29078234
GRCh38:
Chr18:31498271
DSG2R7PArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jan 16, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr18:29122777
GRCh38:
Chr18:31542814
DSG2, DSG2-AS1A766TArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Oct 25, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr18:29126268
GRCh38:
Chr18:31546305
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jan 15, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr18:29101215
GRCh38:
Chr18:31521252
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Apr 25, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr18:29102229
GRCh38:
Chr18:31522266
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Feb 27, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr18:29099884
GRCh38:
Chr18:31519921
DSG2K67RArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 31, 2021)		criteria provided, single submitter
77.
GRCh37:
Chr18:29122716
GRCh38:
Chr18:31542753
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jan 3, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr18:29099832
GRCh38:
Chr18:31519869
DSG2A50PArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 24, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr18:29126490-29126491
GRCh38:
Chr18:31546527-31546528
DSG2-AS1, DSG2E1048fsArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jan 10, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr18:29111198
GRCh38:
Chr18:31531235
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Dec 24, 2021)		criteria provided, single submitter
81.
GRCh37:
Chr18:29116359
GRCh38:
Chr18:31536396
DSG2M540VArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
82.
GRCh37:
Chr18:29111033
GRCh38:
Chr18:31531070
DSG2S366RArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 23, 2021)		criteria provided, single submitter
83.
GRCh37:
Chr18:29104441
GRCh38:
Chr18:31524478
DSG2A241PArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 23, 2021)		criteria provided, single submitter
84.
GRCh37:
Chr18:29104468
GRCh38:
Chr18:31524505
DSG2D250HArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Apr 10, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr18:29122544
GRCh38:
Chr18:31542581
DSG2, DSG2-AS1G688EArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Jan 19, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr18:29098238
GRCh38:
Chr18:31518275
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Aug 20, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr18:29100777
GRCh38:
Chr18:31520814
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Dec 21, 2021)		criteria provided, single submitter
88.
GRCh37:
Chr18:29099811
GRCh38:
Chr18:31519848
DSG2H43YArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Oct 19, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr18:29104862
GRCh38:
Chr18:31524899
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Mar 26, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr18:29101044
GRCh38:
Chr18:31521081
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Dec 17, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr18:29122579
GRCh38:
Chr18:31542616
DSG2-AS1, DSG2S700GArrhythmogenic right ventricular dysplasia 10Uncertain significance
(Dec 17, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr18:29104701
GRCh38:
Chr18:31524738
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Oct 13, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr18:29121297
GRCh38:
Chr18:31541334
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Sep 11, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr18:29110961
GRCh38:
Chr18:31530998
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Oct 13, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr18:29104647-29104648
GRCh38:
Chr18:31524684-31524685
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Sep 15, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr18:29104416
GRCh38:
Chr18:31524453
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Aug 22, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr18:29118820-29118821
GRCh38:
Chr18:31538857-31538858
DSG2T587fsArrhythmogenic right ventricular dysplasia 10Pathogenic
(Sep 3, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr18:29099753
GRCh38:
Chr18:31519790
DSG2Arrhythmogenic right ventricular dysplasia 10Uncertain significance
(Oct 17, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr18:29121278
GRCh38:
Chr18:31541315
DSG2Arrhythmogenic right ventricular dysplasia 10Likely pathogenic
(Nov 30, 2021)		criteria provided, single submitter
100.
GRCh37:
Chr18:29118748
GRCh38:
Chr18:31538785
DSG2Arrhythmogenic right ventricular dysplasia 10Likely benign
(Jul 13, 2022)		criteria provided, single submitter
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