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Links from MedGen

Items: 1 to 100 of 523

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:14180660-14180817
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Feb 11, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr3:14166700
GRCh38:
Chr3:14125200
TMEM43A3TArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 10, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr3:14175222
GRCh38:
Chr3:14133722
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 21, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr3:14171001
GRCh38:
Chr3:14129501
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 31, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:14173114
GRCh38:
Chr3:14131614
TMEM43P61L, P106L, P111LArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr3:14183120
GRCh38:
Chr3:14141620
TMEM43L293P, L318P, L343P, L338P, L341P, L342P, L344PArrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jan 20, 2023)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr3:14175274-14175285
GRCh38:
Chr3:14133774-14133785
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jul 23, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr3:14177367
GRCh38:
Chr3:14135867
TMEM43D231N, D281N, D280N, D282N, D256N, D276NArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Apr 7, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:14176263
GRCh38:
Chr3:14134763
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:14177339
GRCh38:
Chr3:14135839
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Oct 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr3:14180787
GRCh38:
Chr3:14139287
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Oct 30, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:14170939
GRCh38:
Chr3:14129439
TMEM43H14YArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 26, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr3:14172445
GRCh38:
Chr3:14130945
TMEM43R91W, R46W, R96WArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:14176645
GRCh38:
Chr3:14135145
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jan 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr3:14174048
GRCh38:
Chr3:14132548
TMEM43E127A, E132A, E82AArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Feb 9, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:14176666
GRCh38:
Chr3:14135166
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 1, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:14173131-14173132
GRCh38:
Chr3:14131631-14131632
TMEM43H118fsArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 28, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:14166721
GRCh38:
Chr3:14125221
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 12, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:14172395
GRCh38:
Chr3:14130895
TMEM43S79fsArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Apr 29, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr3:14172324
GRCh38:
Chr3:14130824
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:14174450
GRCh38:
Chr3:14132950
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jun 4, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:14180721
GRCh38:
Chr3:14139221
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Mar 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:14171004
GRCh38:
Chr3:14129504
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 5, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr3:14174047
GRCh38:
Chr3:14132547
TMEM43E132K, E127K, E82KArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:14183294
GRCh38:
Chr3:14141794
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 4, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:14183120
GRCh38:
Chr3:14141620
TMEM43L293Q, L338Q, L342Q, L318Q, L344Q, L341Q, L343QArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:14180722
GRCh38:
Chr3:14139222
TMEM43W259R, W310R, W309R, W284R, W304R, W307R, W308RArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:14176739
GRCh38:
Chr3:14135239
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Nov 1, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:14176675
GRCh38:
Chr3:14135175
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Feb 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr3:14173065
GRCh38:
Chr3:14131565
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 8, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr3:14177321
GRCh38:
Chr3:14135821
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 20, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:14183231
GRCh38:
Chr3:14141731
TMEM43A355G, A380G, A381G, A330G, A375G, A378G, A379GArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:14174028
GRCh38:
Chr3:14132528
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 19, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:14172454
GRCh38:
Chr3:14130954
TMEM43K49E, K99E, K94EArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Dec 27, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr3:14183257
GRCh38:
Chr3:14141757
TMEM43V388I, V389I, V339I, V364I, V384I, V387I, V390IArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr3:14176651
GRCh38:
Chr3:14135151
TMEM43Arrhythmogenic right ventricular dysplasia 5Benign
(Dec 23, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr3:14177425
GRCh38:
Chr3:14135925
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Mar 1, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:14173087
GRCh38:
Chr3:14131587
TMEM43S97C, S52C, S102CArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr3:14183142
GRCh38:
Chr3:14141642
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 25, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:14174362
GRCh38:
Chr3:14132862
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 21, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:14183160
GRCh38:
Chr3:14141660
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 18, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:14172345
GRCh38:
Chr3:14130845
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 13, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:14173095
GRCh38:
Chr3:14131595
TMEM43N105D, N55D, N100DArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:14176711
GRCh38:
Chr3:14135211
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 6, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr3:14174049
GRCh38:
Chr3:14132549
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jun 22, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:14174353
GRCh38:
Chr3:14132853
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 5, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:14175278
GRCh38:
Chr3:14133778
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 22, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr3:14170910
GRCh38:
Chr3:14129410
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:14176737
GRCh38:
Chr3:14135237
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(May 10, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:14174418
GRCh38:
Chr3:14132918
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Oct 1, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr3:14174027
GRCh38:
Chr3:14132527
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Oct 17, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:14177290
GRCh38:
Chr3:14135790
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 18, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:14176730
GRCh38:
Chr3:14135230
TMEM43V255L, V261L, V210L, V260LArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Dec 27, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr3:14180810
GRCh38:
Chr3:14139310
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 18, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:14183178
GRCh38:
Chr3:14141678
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Mar 8, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr3:14175322
GRCh38:
Chr3:14133822
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:14176270
GRCh38:
Chr3:14134770
TMEM43G196V, G145V, G195V, G190VArrhythmogenic right ventricular dysplasia 5Uncertain significance
(May 18, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:14173172
GRCh38:
Chr3:14131672
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jun 19, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:14176382
GRCh38:
Chr3:14134882
TMEM43K227N, K232N, K233N, K182NArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:14175223
GRCh38:
Chr3:14133723
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 5, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:14180789
GRCh38:
Chr3:14139289
TMEM43Y330C, Y281C, Y306C, Y326C, Y329C, Y331C, Y332CArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr3:14176385
GRCh38:
Chr3:14134885
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(May 18, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:14172330
GRCh38:
Chr3:14130830
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:14171005
GRCh38:
Chr3:14129505
TMEM43M36VArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Feb 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr3:14176662
GRCh38:
Chr3:14135162
TMEM43G237E, G238E, G232E, G187EArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Sep 24, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:14183211
GRCh38:
Chr3:14141711
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 21, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:14176348
GRCh38:
Chr3:14134848
TMEM43R221L, R216L, R171L, R222LArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Apr 9, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:14174067
GRCh38:
Chr3:14132567
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 9, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:14183189
GRCh38:
Chr3:14141689
TMEM43A366V, A316V, A361V, A364V, A365V, A341V, A367VArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:14171037-14171039
GRCh38:
Chr3:14129537-14129539
TMEM43F47delArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 15, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:14174405
GRCh38:
Chr3:14132905
TMEM43F111C, F156C, F161C, F162CArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Mar 31, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:14177370
GRCh38:
Chr3:14135870
TMEM43T232A, T257A, T277A, T281A, T282A, T283AArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr3:14170913
GRCh38:
Chr3:14129413
TMEM43Y5CCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 28, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:14180705
GRCh38:
Chr3:14139205
TMEM43S301N, S303N, S304N, S298N, S302N, S253N, S278NCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:14180691
GRCh38:
Chr3:14139191
TMEM43Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotypeLikely benign
(Apr 24, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr3:14176657
GRCh38:
Chr3:14135157
TMEM43Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:14183219
GRCh38:
Chr3:14141719
TMEM43A326D, A351D, A371D, A374D, A375D, A376D, A377DArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr3:14177350
GRCh38:
Chr3:14135850
TMEM43F225C, F250C, F270C, F274C, F275C, F276CArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jul 20, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:14180768
GRCh38:
Chr3:14139268
TMEM43N274I, N299I, N319I, N322I, N323I, N324I, N325IArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:14183245
GRCh38:
Chr3:14141745
TMEM43V335M, V360M, V380M, V383M, V384M, V385M, V386MArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:14176354
GRCh38:
Chr3:14134854
TMEM43D173V, D218V, D223V, D224VArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:14180665
GRCh38:
Chr3:14139165
TMEM43not specified, Arrhythmogenic right ventricular dysplasia 5Conflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:14174044
GRCh38:
Chr3:14132544
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely pathogenic
(Feb 1, 2013)
criteria provided, single submitter
84.
GRCh37:
Chr3:14180692
GRCh38:
Chr3:14139192
TMEM43R299GArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr3:14176699-14176700
GRCh38:
Chr3:14135199-14135200
TMEM43D251fsCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant,
Auditory neuropathy, autosomal dominant 3, not provided, Arrhythmogenic right ventricular dysplasia 5
Uncertain significance
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:14175222
GRCh38:
Chr3:14133722
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Nov 5, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr3:14177372
GRCh38:
Chr3:14135872
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jun 28, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr3:14183250
GRCh38:
Chr3:14141750
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jan 5, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr3:14172450
GRCh38:
Chr3:14130950
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jan 4, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr3:14177428
GRCh38:
Chr3:14135928
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Mar 26, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr3:14174079
GRCh38:
Chr3:14132579
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Nov 11, 2020)
criteria provided, single submitter
92.
GRCh37:
Chr3:14172447
GRCh38:
Chr3:14130947
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 3, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr3:14170908
GRCh38:
Chr3:14129408
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 5, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:14174115
GRCh38:
Chr3:14132615
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Oct 17, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:14180787
GRCh38:
Chr3:14139287
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 21, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr3:14180664
GRCh38:
Chr3:14139164
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Mar 23, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr3:14176751
GRCh38:
Chr3:14135251
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 3, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:14177366
GRCh38:
Chr3:14135866
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Feb 18, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr3:14176254
GRCh38:
Chr3:14134754
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 3, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr3:14177363
GRCh38:
Chr3:14135863
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 2, 2021)
criteria provided, single submitter
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